| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38580090C>A | CA061313 | RYR1 | c.1409C>A c.2806C>A c.2778C>A c.14473C>A (p.Arg4825Ser) c.14458C>A (p.Arg4820Ser) c.14455C>A (p.Arg4819Ser) c.14440C>A (p.Arg4814Ser) c.14470C>A (p.Arg4824Ser) c.14386C>A (p.Arg4796Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580090C= | CA2335092295 | RYR1 | c.1409C= c.2806C= c.2778C= c.14473C= (p.Arg4825=) c.14458C= (p.Arg4820=) c.14455C= (p.Arg4819=) c.14440C= (p.Arg4814=) c.14470C= (p.Arg4824=) c.14386C= (p.Arg4796=) | |
| 19 | g.38580090C>G | CA405687306 | RYR1 | c.1409C>G c.2806C>G c.2778C>G c.14473C>G (p.Arg4825Gly) c.14458C>G (p.Arg4820Gly) c.14455C>G (p.Arg4819Gly) c.14440C>G (p.Arg4814Gly) c.14470C>G (p.Arg4824Gly) c.14386C>G (p.Arg4796Gly) | |
| 19 | g.38580090C>T | CA024150 | RYR1 | c.1409C>T c.2806C>T c.2778C>T c.14473C>T (p.Arg4825Cys) c.14458C>T (p.Arg4820Cys) c.14455C>T (p.Arg4819Cys) c.14440C>T (p.Arg4814Cys) c.14470C>T (p.Arg4824Cys) c.14386C>T (p.Arg4796Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580091G>A | CA061315 | RYR1 | c.1410G>A c.2807G>A c.2779G>A c.14474G>A (p.Arg4825His) c.14459G>A (p.Arg4820His) c.14456G>A (p.Arg4819His) c.14441G>A (p.Arg4814His) c.14471G>A (p.Arg4824His) c.14387G>A (p.Arg4796His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38580091G>C | CA024152 | RYR1 | c.1410G>C c.2807G>C c.2779G>C c.14474G>C (p.Arg4825Pro) c.14459G>C (p.Arg4820Pro) c.14456G>C (p.Arg4819Pro) c.14441G>C (p.Arg4814Pro) c.14471G>C (p.Arg4824Pro) c.14387G>C (p.Arg4796Pro) | ClinVar dbSNP |
| 19 | g.38580091G= | CA2335092296 | RYR1 | c.1410G= c.2807G= c.2779G= c.14474G= (p.Arg4825=) c.14459G= (p.Arg4820=) c.14456G= (p.Arg4819=) c.14441G= (p.Arg4814=) c.14471G= (p.Arg4824=) c.14387G= (p.Arg4796=) | |
| 19 | g.38580091G>T | CA405687310 | RYR1 | c.1410G>T c.2807G>T c.2779G>T c.14474G>T (p.Arg4825Leu) c.14459G>T (p.Arg4820Leu) c.14456G>T (p.Arg4819Leu) c.14441G>T (p.Arg4814Leu) c.14471G>T (p.Arg4824Leu) c.14387G>T (p.Arg4796Leu) | COSMIC |
| 19 | g.38580092C>A | CA507356065 | RYR1 | c.1411C>A c.2808C>A c.2780C>A c.14475C>A (p.Arg4825=) c.14460C>A (p.Arg4820=) c.14457C>A (p.Arg4819=) c.14442C>A (p.Arg4814=) c.14472C>A (p.Arg4824=) c.14388C>A (p.Arg4796=) | |
| 19 | g.38580092C= | CA2335092297 | RYR1 | c.1411C= c.2808C= c.2780C= c.14475C= (p.Arg4825=) c.14460C= (p.Arg4820=) c.14457C= (p.Arg4819=) c.14442C= (p.Arg4814=) c.14472C= (p.Arg4824=) c.14388C= (p.Arg4796=) | |
| 19 | g.38580092C>G | CA507356066 | RYR1 | c.1411C>G c.2808C>G c.2780C>G c.14475C>G (p.Arg4825=) c.14460C>G (p.Arg4820=) c.14457C>G (p.Arg4819=) c.14442C>G (p.Arg4814=) c.14472C>G (p.Arg4824=) c.14388C>G (p.Arg4796=) | |
| 19 | g.38580092C>T | CA061319 | RYR1 | c.1411C>T c.2808C>T c.2780C>T c.14475C>T (p.Arg4825=) c.14460C>T (p.Arg4820=) c.14457C>T (p.Arg4819=) c.14442C>T (p.Arg4814=) c.14472C>T (p.Arg4824=) c.14388C>T (p.Arg4796=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580093A= | CA2335092298 | RYR1 | c.1412A= c.2809A= c.2781A= c.14476A= (p.Thr4826=) c.14461A= (p.Thr4821=) c.14458A= (p.Thr4820=) c.14443A= (p.Thr4815=) c.14473A= (p.Thr4825=) c.14389A= (p.Thr4797=) | |
| 19 | g.38580093A>C | CA061320 | RYR1 | c.1412A>C c.2809A>C c.2781A>C c.14476A>C (p.Thr4826Pro) c.14461A>C (p.Thr4821Pro) c.14458A>C (p.Thr4820Pro) c.14443A>C (p.Thr4815Pro) c.14473A>C (p.Thr4825Pro) c.14389A>C (p.Thr4797Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580093A>G | CA405687316 | RYR1 | c.1412A>G c.2809A>G c.2781A>G c.14476A>G (p.Thr4826Ala) c.14461A>G (p.Thr4821Ala) c.14458A>G (p.Thr4820Ala) c.14443A>G (p.Thr4815Ala) c.14473A>G (p.Thr4825Ala) c.14389A>G (p.Thr4797Ala) | |
| 19 | g.38580093A>T | CA405687318 | RYR1 | c.1412A>T c.2809A>T c.2781A>T c.14476A>T (p.Thr4826Ser) c.14461A>T (p.Thr4821Ser) c.14458A>T (p.Thr4820Ser) c.14443A>T (p.Thr4815Ser) c.14473A>T (p.Thr4825Ser) c.14389A>T (p.Thr4797Ser) | |
| 19 | g.38580094C>A | CA405687322 | RYR1 | c.1413C>A c.2810C>A c.2782C>A c.14477C>A (p.Thr4826Asn) c.14462C>A (p.Thr4821Asn) c.14459C>A (p.Thr4820Asn) c.14444C>A (p.Thr4815Asn) c.14474C>A (p.Thr4825Asn) c.14390C>A (p.Thr4797Asn) | |
| 19 | g.38580094C= | CA2335092299 | RYR1 | c.1413C= c.2810C= c.2782C= c.14477C= (p.Thr4826=) c.14462C= (p.Thr4821=) c.14459C= (p.Thr4820=) c.14444C= (p.Thr4815=) c.14474C= (p.Thr4825=) c.14390C= (p.Thr4797=) | |
| 19 | g.38580094C>G | CA405687324 | RYR1 | c.1413C>G c.2810C>G c.2782C>G c.14477C>G (p.Thr4826Ser) c.14462C>G (p.Thr4821Ser) c.14459C>G (p.Thr4820Ser) c.14444C>G (p.Thr4815Ser) c.14474C>G (p.Thr4825Ser) c.14390C>G (p.Thr4797Ser) | |
| 19 | g.38580094C>T | CA024154 | RYR1 | c.1413C>T c.2810C>T c.2782C>T c.14477C>T (p.Thr4826Ile) c.14462C>T (p.Thr4821Ile) c.14459C>T (p.Thr4820Ile) c.14444C>T (p.Thr4815Ile) c.14474C>T (p.Thr4825Ile) c.14390C>T (p.Thr4797Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580095C>A | CA507356068 | RYR1 | c.1414C>A c.2811C>A c.2783C>A c.14478C>A (p.Thr4826=) c.14463C>A (p.Thr4821=) c.14460C>A (p.Thr4820=) c.14445C>A (p.Thr4815=) c.14475C>A (p.Thr4825=) c.14391C>A (p.Thr4797=) | |
| 19 | g.38580095C>G | CA507356067 | RYR1 | c.1414C>G c.2811C>G c.2783C>G c.14478C>G (p.Thr4826=) c.14463C>G (p.Thr4821=) c.14460C>G (p.Thr4820=) c.14445C>G (p.Thr4815=) c.14475C>G (p.Thr4825=) c.14391C>G (p.Thr4797=) | |
| 19 | g.38580095C>T | CA081233 | RYR1 | c.1414C>T c.2811C>T c.2783C>T c.14478C>T (p.Thr4826=) c.14463C>T (p.Thr4821=) c.14460C>T (p.Thr4820=) c.14445C>T (p.Thr4815=) c.14475C>T (p.Thr4825=) c.14391C>T (p.Thr4797=) | ClinVar |
| 19 | g.38580096A>C | CA081234 | RYR1 | c.1415A>C c.2812A>C c.2784A>C c.14479A>C (p.Ile4827Leu) c.14464A>C (p.Ile4822Leu) c.14461A>C (p.Ile4821Leu) c.14446A>C (p.Ile4816Leu) c.14476A>C (p.Ile4826Leu) c.14392A>C (p.Ile4798Leu) | |
| 19 | g.38580096A>G | CA405687327 | RYR1 | c.1415A>G c.2812A>G c.2784A>G c.14479A>G (p.Ile4827Val) c.14464A>G (p.Ile4822Val) c.14461A>G (p.Ile4821Val) c.14446A>G (p.Ile4816Val) c.14476A>G (p.Ile4826Val) c.14392A>G (p.Ile4798Val) | gnomAD v4 |
| 19 | g.38580096A>T | CA405687330 | RYR1 | c.1415A>T c.2812A>T c.2784A>T c.14479A>T (p.Ile4827Phe) c.14464A>T (p.Ile4822Phe) c.14461A>T (p.Ile4821Phe) c.14446A>T (p.Ile4816Phe) c.14476A>T (p.Ile4826Phe) c.14392A>T (p.Ile4798Phe) | |
| 19 | g.38580097T>A | CA024156 | RYR1 | c.1416T>A c.2813T>A c.2785T>A c.14480T>A (p.Ile4827Asn) c.14465T>A (p.Ile4822Asn) c.14462T>A (p.Ile4821Asn) c.14447T>A (p.Ile4816Asn) c.14477T>A (p.Ile4826Asn) c.14393T>A (p.Ile4798Asn) | ClinVar dbSNP |
| 19 | g.38580097T>C | CA405687335 | RYR1 | c.1416T>C c.2813T>C c.2785T>C c.14480T>C (p.Ile4827Thr) c.14465T>C (p.Ile4822Thr) c.14462T>C (p.Ile4821Thr) c.14447T>C (p.Ile4816Thr) c.14477T>C (p.Ile4826Thr) c.14393T>C (p.Ile4798Thr) | |
| 19 | g.38580097T>G | CA405687337 | RYR1 | c.1416T>G c.2813T>G c.2785T>G c.14480T>G (p.Ile4827Ser) c.14465T>G (p.Ile4822Ser) c.14462T>G (p.Ile4821Ser) c.14447T>G (p.Ile4816Ser) c.14477T>G (p.Ile4826Ser) c.14393T>G (p.Ile4798Ser) | |
| 19 | g.38580097T= | CA2335092300 | RYR1 | c.1416T= c.2813T= c.2785T= c.14480T= (p.Ile4827=) c.14465T= (p.Ile4822=) c.14462T= (p.Ile4821=) c.14447T= (p.Ile4816=) c.14477T= (p.Ile4826=) c.14393T= (p.Ile4798=) | |
| 19 | g.38580098C>A | CA507356074 | RYR1 | c.1417C>A c.2814C>A c.2786C>A c.14481C>A (p.Ile4827=) c.14466C>A (p.Ile4822=) c.14463C>A (p.Ile4821=) c.14448C>A (p.Ile4816=) c.14478C>A (p.Ile4826=) c.14394C>A (p.Ile4798=) | |
| 19 | g.38580098C= | CA2335092301 | RYR1 | c.1417C= c.2814C= c.2786C= c.14481C= (p.Ile4827=) c.14466C= (p.Ile4822=) c.14463C= (p.Ile4821=) c.14448C= (p.Ile4816=) c.14478C= (p.Ile4826=) c.14394C= (p.Ile4798=) | |
| 19 | g.38580098C>G | CA405687338 | RYR1 | c.1417C>G c.2814C>G c.2786C>G c.14481C>G (p.Ile4827Met) c.14466C>G (p.Ile4822Met) c.14463C>G (p.Ile4821Met) c.14448C>G (p.Ile4816Met) c.14478C>G (p.Ile4826Met) c.14394C>G (p.Ile4798Met) | |
| 19 | g.38580098C>T | CA507356075 | RYR1 | c.1417C>T c.2814C>T c.2786C>T c.14481C>T (p.Ile4827=) c.14466C>T (p.Ile4822=) c.14463C>T (p.Ile4821=) c.14448C>T (p.Ile4816=) c.14478C>T (p.Ile4826=) c.14394C>T (p.Ile4798=) | dbSNP gnomAD v4 |
| 19 | g.38580099C>A | CA405687339 | RYR1 | c.1418C>A c.2815C>A c.2787C>A c.14482C>A (p.Leu4828Met) c.14467C>A (p.Leu4823Met) c.14464C>A (p.Leu4822Met) c.14449C>A (p.Leu4817Met) c.14479C>A (p.Leu4827Met) c.14395C>A (p.Leu4799Met) | |
| 19 | g.38580099C>G | CA405687340 | RYR1 | c.1418C>G c.2815C>G c.2787C>G c.14482C>G (p.Leu4828Val) c.14467C>G (p.Leu4823Val) c.14464C>G (p.Leu4822Val) c.14449C>G (p.Leu4817Val) c.14479C>G (p.Leu4827Val) c.14395C>G (p.Leu4799Val) | |
| 19 | g.38580099C>T | CA507356076 | RYR1 | c.1418C>T c.2815C>T c.2787C>T c.14482C>T (p.Leu4828=) c.14467C>T (p.Leu4823=) c.14464C>T (p.Leu4822=) c.14449C>T (p.Leu4817=) c.14479C>T (p.Leu4827=) c.14395C>T (p.Leu4799=) | ClinVar |
| 19 | g.38580100T>A | CA405687342 | RYR1 | c.1419T>A c.2816T>A c.2788T>A c.14483T>A (p.Leu4828Gln) c.14468T>A (p.Leu4823Gln) c.14465T>A (p.Leu4822Gln) c.14450T>A (p.Leu4817Gln) c.14480T>A (p.Leu4827Gln) c.14396T>A (p.Leu4799Gln) | |
| 19 | g.38580100T>C | CA405687343 | RYR1 | c.1419T>C c.2816T>C c.2788T>C c.14483T>C (p.Leu4828Pro) c.14468T>C (p.Leu4823Pro) c.14465T>C (p.Leu4822Pro) c.14450T>C (p.Leu4817Pro) c.14480T>C (p.Leu4827Pro) c.14396T>C (p.Leu4799Pro) | |
| 19 | g.38580100T>G | CA405687341 | RYR1 | c.1419T>G c.2816T>G c.2788T>G c.14483T>G (p.Leu4828Arg) c.14468T>G (p.Leu4823Arg) c.14465T>G (p.Leu4822Arg) c.14450T>G (p.Leu4817Arg) c.14480T>G (p.Leu4827Arg) c.14396T>G (p.Leu4799Arg) | |
| 19 | g.38580101G>A | CA507356078 | RYR1 | c.1420G>A c.2817G>A c.2789G>A c.14484G>A (p.Leu4828=) c.14469G>A (p.Leu4823=) c.14466G>A (p.Leu4822=) c.14451G>A (p.Leu4817=) c.14481G>A (p.Leu4827=) c.14397G>A (p.Leu4799=) | |
| 19 | g.38580101G>C | CA507356079 | RYR1 | c.1420G>C c.2817G>C c.2789G>C c.14484G>C (p.Leu4828=) c.14469G>C (p.Leu4823=) c.14466G>C (p.Leu4822=) c.14451G>C (p.Leu4817=) c.14481G>C (p.Leu4827=) c.14397G>C (p.Leu4799=) | |
| 19 | g.38580101G>T | CA507356081 | RYR1 | c.1420G>T c.2817G>T c.2789G>T c.14484G>T (p.Leu4828=) c.14469G>T (p.Leu4823=) c.14466G>T (p.Leu4822=) c.14451G>T (p.Leu4817=) c.14481G>T (p.Leu4827=) c.14397G>T (p.Leu4799=) | |
| 19 | g.38580102T>A | CA405687352 | RYR1 | c.1421T>A c.2818T>A c.2790T>A c.14485T>A (p.Ser4829Thr) c.14470T>A (p.Ser4824Thr) c.14467T>A (p.Ser4823Thr) c.14452T>A (p.Ser4818Thr) c.14482T>A (p.Ser4828Thr) c.14398T>A (p.Ser4800Thr) | |
| 19 | g.38580102T>C | CA405687346 | RYR1 | c.1421T>C c.2818T>C c.2790T>C c.14485T>C (p.Ser4829Pro) c.14470T>C (p.Ser4824Pro) c.14467T>C (p.Ser4823Pro) c.14452T>C (p.Ser4818Pro) c.14482T>C (p.Ser4828Pro) c.14398T>C (p.Ser4800Pro) | |
| 19 | g.38580102T>G | CA405687351 | RYR1 | c.1421T>G c.2818T>G c.2790T>G c.14485T>G (p.Ser4829Ala) c.14470T>G (p.Ser4824Ala) c.14467T>G (p.Ser4823Ala) c.14452T>G (p.Ser4818Ala) c.14482T>G (p.Ser4828Ala) c.14398T>G (p.Ser4800Ala) | |
| 19 | g.38580103C>A | CA405687355 | RYR1 | c.1422C>A c.2819C>A c.2791C>A c.14486C>A (p.Ser4829Tyr) c.14471C>A (p.Ser4824Tyr) c.14468C>A (p.Ser4823Tyr) c.14453C>A (p.Ser4818Tyr) c.14483C>A (p.Ser4828Tyr) c.14399C>A (p.Ser4800Tyr) | |
| 19 | g.38580103C= | CA2335092302 | RYR1 | c.1422C= c.2819C= c.2791C= c.14486C= (p.Ser4829=) c.14471C= (p.Ser4824=) c.14468C= (p.Ser4823=) c.14453C= (p.Ser4818=) c.14483C= (p.Ser4828=) c.14399C= (p.Ser4800=) | |
| 19 | g.38580103C>G | CA405687358 | RYR1 | c.1422C>G c.2819C>G c.2791C>G c.14486C>G (p.Ser4829Cys) c.14471C>G (p.Ser4824Cys) c.14468C>G (p.Ser4823Cys) c.14453C>G (p.Ser4818Cys) c.14483C>G (p.Ser4828Cys) c.14399C>G (p.Ser4800Cys) | |
| 19 | g.38580103C>T | CA405687361 | RYR1 | c.1422C>T c.2819C>T c.2791C>T c.14486C>T (p.Ser4829Phe) c.14471C>T (p.Ser4824Phe) c.14468C>T (p.Ser4823Phe) c.14453C>T (p.Ser4818Phe) c.14483C>T (p.Ser4828Phe) c.14399C>T (p.Ser4800Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580104C>A | CA507356084 | RYR1 | c.1423C>A c.2820C>A c.2792C>A c.14487C>A (p.Ser4829=) c.14472C>A (p.Ser4824=) c.14469C>A (p.Ser4823=) c.14454C>A (p.Ser4818=) c.14484C>A (p.Ser4828=) c.14400C>A (p.Ser4800=) | |
| 19 | g.38580104C= | CA2335092303 | RYR1 | c.1423C= c.2820C= c.2792C= c.14487C= (p.Ser4829=) c.14472C= (p.Ser4824=) c.14469C= (p.Ser4823=) c.14454C= (p.Ser4818=) c.14484C= (p.Ser4828=) c.14400C= (p.Ser4800=) | |
| 19 | g.38580104C>G | CA507356085 | RYR1 | c.1423C>G c.2820C>G c.2792C>G c.14487C>G (p.Ser4829=) c.14472C>G (p.Ser4824=) c.14469C>G (p.Ser4823=) c.14454C>G (p.Ser4818=) c.14484C>G (p.Ser4828=) c.14400C>G (p.Ser4800=) | |
| 19 | g.38580104C>T | CA507356086 | RYR1 | c.1423C>T c.2820C>T c.2792C>T c.14487C>T (p.Ser4829=) c.14472C>T (p.Ser4824=) c.14469C>T (p.Ser4823=) c.14454C>T (p.Ser4818=) c.14484C>T (p.Ser4828=) c.14400C>T (p.Ser4800=) | ClinVar gnomAD v4 |
| 19 | g.38580105T>A | CA405687366 | RYR1 | c.1424T>A c.2821T>A c.2793T>A c.14488T>A (p.Ser4830Thr) c.14473T>A (p.Ser4825Thr) c.14470T>A (p.Ser4824Thr) c.14455T>A (p.Ser4819Thr) c.14485T>A (p.Ser4829Thr) c.14401T>A (p.Ser4801Thr) | ClinVar dbSNP |
| 19 | g.38580105T>C | CA405687369 | RYR1 | c.1424T>C c.2821T>C c.2793T>C c.14488T>C (p.Ser4830Pro) c.14473T>C (p.Ser4825Pro) c.14470T>C (p.Ser4824Pro) c.14455T>C (p.Ser4819Pro) c.14485T>C (p.Ser4829Pro) c.14401T>C (p.Ser4801Pro) | ClinVar |
| 19 | g.38580105T>G | CA405687371 | RYR1 | c.1424T>G c.2821T>G c.2793T>G c.14488T>G (p.Ser4830Ala) c.14473T>G (p.Ser4825Ala) c.14470T>G (p.Ser4824Ala) c.14455T>G (p.Ser4819Ala) c.14485T>G (p.Ser4829Ala) c.14401T>G (p.Ser4801Ala) | |
| 19 | g.38580105T= | CA2335092304 | RYR1 | c.1424T= c.2821T= c.2793T= c.14488T= (p.Ser4830=) c.14473T= (p.Ser4825=) c.14470T= (p.Ser4824=) c.14455T= (p.Ser4819=) c.14485T= (p.Ser4829=) c.14401T= (p.Ser4801=) | |
| 19 | g.38580105_38580134dup | CA061321 | RYR1 | c.1424_1447+6dup c.2821_2844+6dup c.2793_2816+6dup c.14488_14511+6dup c.14473_14496+6dup c.14470_14493+6dup c.14455_14478+6dup c.14485_14508+6dup c.14401_14424+6dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580106C>A | CA405687375 | RYR1 | c.1425C>A c.2822C>A c.2794C>A c.14489C>A (p.Ser4830Tyr) c.14474C>A (p.Ser4825Tyr) c.14471C>A (p.Ser4824Tyr) c.14456C>A (p.Ser4819Tyr) c.14486C>A (p.Ser4829Tyr) c.14402C>A (p.Ser4801Tyr) | ClinVar dbSNP |
| 19 | g.38580106C= | CA2335092305 | RYR1 | c.1425C= c.2822C= c.2794C= c.14489C= (p.Ser4830=) c.14474C= (p.Ser4825=) c.14471C= (p.Ser4824=) c.14456C= (p.Ser4819=) c.14486C= (p.Ser4829=) c.14402C= (p.Ser4801=) | |
| 19 | g.38580106C>G | CA405687378 | RYR1 | c.1425C>G c.2822C>G c.2794C>G c.14489C>G (p.Ser4830Cys) c.14474C>G (p.Ser4825Cys) c.14471C>G (p.Ser4824Cys) c.14456C>G (p.Ser4819Cys) c.14486C>G (p.Ser4829Cys) c.14402C>G (p.Ser4801Cys) | |
| 19 | g.38580106C>T | CA405687379 | RYR1 | c.1425C>T c.2822C>T c.2794C>T c.14489C>T (p.Ser4830Phe) c.14474C>T (p.Ser4825Phe) c.14471C>T (p.Ser4824Phe) c.14456C>T (p.Ser4819Phe) c.14486C>T (p.Ser4829Phe) c.14402C>T (p.Ser4801Phe) | |
| 19 | g.38580107T>A | CA507356089 | RYR1 | c.1426T>A c.2823T>A c.2795T>A c.14490T>A (p.Ser4830=) c.14475T>A (p.Ser4825=) c.14472T>A (p.Ser4824=) c.14457T>A (p.Ser4819=) c.14487T>A (p.Ser4829=) c.14403T>A (p.Ser4801=) | |
| 19 | g.38580107T>C | CA507356090 | RYR1 | c.1426T>C c.2823T>C c.2795T>C c.14490T>C (p.Ser4830=) c.14475T>C (p.Ser4825=) c.14472T>C (p.Ser4824=) c.14457T>C (p.Ser4819=) c.14487T>C (p.Ser4829=) c.14403T>C (p.Ser4801=) | |
| 19 | g.38580107T>G | CA507356091 | RYR1 | c.1426T>G c.2823T>G c.2795T>G c.14490T>G (p.Ser4830=) c.14475T>G (p.Ser4825=) c.14472T>G (p.Ser4824=) c.14457T>G (p.Ser4819=) c.14487T>G (p.Ser4829=) c.14403T>G (p.Ser4801=) | |
| 19 | g.38580107dup | CA2573054762 | RYR1 | c.1426dup c.2823dup c.2795dup c.14490dup (p.Val4831CysfsTer?) c.14475dup (p.Val4826CysfsTer?) c.14472dup (p.Val4825CysfsTer?) c.14457dup (p.Val4820CysfsTer?) c.14487dup (p.Val4830CysfsTer?) c.14403dup (p.Val4802CysfsTer?) | ClinVar dbSNP |
| 19 | g.38580107_38580108insTCTGTCACCCACAATGGGAAACAGGTGTGG | CA081235 | RYR1 | c.1426_1427insTCTGTCACCCACAATGGGAAACAGGTGTGG c.2823_2824insTCTGTCACCCACAATGGGAAACAGGTGTGG c.2795_2796insTCTGTCACCCACAATGGGAAACAGGTGTGG c.14490_14491insTCTGTCACCCACAATGGGAAACAGGTGTGG (p.Ser4830_Val4831insSerValThrHisAsnGlyLysGlnValTrp) c.14475_14476insTCTGTCACCCACAATGGGAAACAGGTGTGG (p.Ser4825_Val4826insSerValThrHisAsnGlyLysGlnValTrp) c.14472_14473insTCTGTCACCCACAATGGGAAACAGGTGTGG (p.Ser4824_Val4825insSerValThrHisAsnGlyLysGlnValTrp) c.14457_14458insTCTGTCACCCACAATGGGAAACAGGTGTGG (p.Ser4819_Val4820insSerValThrHisAsnGlyLysGlnValTrp) c.14487_14488insTCTGTCACCCACAATGGGAAACAGGTGTGG (p.Ser4829_Val4830insSerValThrHisAsnGlyLysGlnValTrp) c.14403_14404insTCTGTCACCCACAATGGGAAACAGGTGTGG (p.Ser4801_Val4802insSerValThrHisAsnGlyLysGlnValTrp) | |
| 19 | g.38580108G>A | CA405687381 | RYR1 | c.1427G>A c.2824G>A c.2796G>A c.14491G>A (p.Val4831Ile) c.14476G>A (p.Val4826Ile) c.14473G>A (p.Val4825Ile) c.14458G>A (p.Val4820Ile) c.14488G>A (p.Val4830Ile) c.14404G>A (p.Val4802Ile) | |
| 19 | g.38580108G>C | CA405687382 | RYR1 | c.1427G>C c.2824G>C c.2796G>C c.14491G>C (p.Val4831Leu) c.14476G>C (p.Val4826Leu) c.14473G>C (p.Val4825Leu) c.14458G>C (p.Val4820Leu) c.14488G>C (p.Val4830Leu) c.14404G>C (p.Val4802Leu) | |
| 19 | g.38580108G>T | CA405687380 | RYR1 | c.1427G>T c.2824G>T c.2796G>T c.14491G>T (p.Val4831Phe) c.14476G>T (p.Val4826Phe) c.14473G>T (p.Val4825Phe) c.14458G>T (p.Val4820Phe) c.14488G>T (p.Val4830Phe) c.14404G>T (p.Val4802Phe) | |
| 19 | g.38580109T>A | CA405687384 | RYR1 | c.1428T>A c.2825T>A c.2797T>A c.14492T>A (p.Val4831Asp) c.14477T>A (p.Val4826Asp) c.14474T>A (p.Val4825Asp) c.14459T>A (p.Val4820Asp) c.14489T>A (p.Val4830Asp) c.14405T>A (p.Val4802Asp) | |
| 19 | g.38580109T>C | CA405687385 | RYR1 | c.1428T>C c.2825T>C c.2797T>C c.14492T>C (p.Val4831Ala) c.14477T>C (p.Val4826Ala) c.14474T>C (p.Val4825Ala) c.14459T>C (p.Val4820Ala) c.14489T>C (p.Val4830Ala) c.14405T>C (p.Val4802Ala) | |
| 19 | g.38580109T>G | CA405687388 | RYR1 | c.1428T>G c.2825T>G c.2797T>G c.14492T>G (p.Val4831Gly) c.14477T>G (p.Val4826Gly) c.14474T>G (p.Val4825Gly) c.14459T>G (p.Val4820Gly) c.14489T>G (p.Val4830Gly) c.14405T>G (p.Val4802Gly) | |
| 19 | g.38580110C>A | CA507356093 | RYR1 | c.1429C>A c.2826C>A c.2798C>A c.14493C>A (p.Val4831=) c.14478C>A (p.Val4826=) c.14475C>A (p.Val4825=) c.14460C>A (p.Val4820=) c.14490C>A (p.Val4830=) c.14406C>A (p.Val4802=) | |
| 19 | g.38580110C>G | CA507356094 | RYR1 | c.1429C>G c.2826C>G c.2798C>G c.14493C>G (p.Val4831=) c.14478C>G (p.Val4826=) c.14475C>G (p.Val4825=) c.14460C>G (p.Val4820=) c.14490C>G (p.Val4830=) c.14406C>G (p.Val4802=) | |
| 19 | g.38580110C>T | CA507356096 | RYR1 | c.1429C>T c.2826C>T c.2798C>T c.14493C>T (p.Val4831=) c.14478C>T (p.Val4826=) c.14475C>T (p.Val4825=) c.14460C>T (p.Val4820=) c.14490C>T (p.Val4830=) c.14406C>T (p.Val4802=) | ClinVar |
| 19 | g.38580111A>C | CA405687391 | RYR1 | c.1430A>C c.2827A>C c.2799A>C c.14494A>C (p.Thr4832Pro) c.14479A>C (p.Thr4827Pro) c.14476A>C (p.Thr4826Pro) c.14461A>C (p.Thr4821Pro) c.14491A>C (p.Thr4831Pro) c.14407A>C (p.Thr4803Pro) | |
| 19 | g.38580111A>G | CA405687393 | RYR1 | c.1430A>G c.2827A>G c.2799A>G c.14494A>G (p.Thr4832Ala) c.14479A>G (p.Thr4827Ala) c.14476A>G (p.Thr4826Ala) c.14461A>G (p.Thr4821Ala) c.14491A>G (p.Thr4831Ala) c.14407A>G (p.Thr4803Ala) | |
| 19 | g.38580111A>T | CA405687395 | RYR1 | c.1430A>T c.2827A>T c.2799A>T c.14494A>T (p.Thr4832Ser) c.14479A>T (p.Thr4827Ser) c.14476A>T (p.Thr4826Ser) c.14461A>T (p.Thr4821Ser) c.14491A>T (p.Thr4831Ser) c.14407A>T (p.Thr4803Ser) | |
| 19 | g.38580112C>A | CA16607807 | RYR1 | c.1431C>A c.2828C>A c.2800C>A c.14495C>A (p.Thr4832Asn) c.14480C>A (p.Thr4827Asn) c.14477C>A (p.Thr4826Asn) c.14462C>A (p.Thr4821Asn) c.14492C>A (p.Thr4831Asn) c.14408C>A (p.Thr4803Asn) | ClinVar dbSNP |
| 19 | g.38580112C= | CA2335092306 | RYR1 | c.1431C= c.2828C= c.2800C= c.14495C= (p.Thr4832=) c.14480C= (p.Thr4827=) c.14477C= (p.Thr4826=) c.14462C= (p.Thr4821=) c.14492C= (p.Thr4831=) c.14408C= (p.Thr4803=) | |
| 19 | g.38580112C>G | CA405687400 | RYR1 | c.1431C>G c.2828C>G c.2800C>G c.14495C>G (p.Thr4832Ser) c.14480C>G (p.Thr4827Ser) c.14477C>G (p.Thr4826Ser) c.14462C>G (p.Thr4821Ser) c.14492C>G (p.Thr4831Ser) c.14408C>G (p.Thr4803Ser) | gnomAD v4 |
| 19 | g.38580112C>T | CA405687398 | RYR1 | c.1431C>T c.2828C>T c.2800C>T c.14495C>T (p.Thr4832Ile) c.14480C>T (p.Thr4827Ile) c.14477C>T (p.Thr4826Ile) c.14462C>T (p.Thr4821Ile) c.14492C>T (p.Thr4831Ile) c.14408C>T (p.Thr4803Ile) | |
| 19 | g.38580114del | CA2579758273 | RYR1 | c.1433del c.2830del c.2802del c.14497del (p.His4833ThrfsTer7) c.14482del (p.His4828ThrfsTer7) c.14479del (p.His4827ThrfsTer7) c.14464del (p.His4822ThrfsTer7) c.14494del (p.His4832ThrfsTer7) c.14410del (p.His4804ThrfsTer7) | |
| 19 | g.38580113C>A | CA507356100 | RYR1 | c.1432C>A c.2829C>A c.2801C>A c.14496C>A (p.Thr4832=) c.14481C>A (p.Thr4827=) c.14478C>A (p.Thr4826=) c.14463C>A (p.Thr4821=) c.14493C>A (p.Thr4831=) c.14409C>A (p.Thr4803=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580113C= | CA2335092307 | RYR1 | c.1432C= c.2829C= c.2801C= c.14496C= (p.Thr4832=) c.14481C= (p.Thr4827=) c.14478C= (p.Thr4826=) c.14463C= (p.Thr4821=) c.14493C= (p.Thr4831=) c.14409C= (p.Thr4803=) | |
| 19 | g.38580113C>G | CA507356101 | RYR1 | c.1432C>G c.2829C>G c.2801C>G c.14496C>G (p.Thr4832=) c.14481C>G (p.Thr4827=) c.14478C>G (p.Thr4826=) c.14463C>G (p.Thr4821=) c.14493C>G (p.Thr4831=) c.14409C>G (p.Thr4803=) | |
| 19 | g.38580113C>T | CA061328 | RYR1 | c.1432C>T c.2829C>T c.2801C>T c.14496C>T (p.Thr4832=) c.14481C>T (p.Thr4827=) c.14478C>T (p.Thr4826=) c.14463C>T (p.Thr4821=) c.14493C>T (p.Thr4831=) c.14409C>T (p.Thr4803=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580114C>A | CA405687404 | RYR1 | c.1433C>A c.2830C>A c.2802C>A c.14497C>A (p.His4833Asn) c.14482C>A (p.His4828Asn) c.14479C>A (p.His4827Asn) c.14464C>A (p.His4822Asn) c.14494C>A (p.His4832Asn) c.14410C>A (p.His4804Asn) | |
| 19 | g.38580114C= | CA2335092308 | RYR1 | c.1433C= c.2830C= c.2802C= c.14497C= (p.His4833=) c.14482C= (p.His4828=) c.14479C= (p.His4827=) c.14464C= (p.His4822=) c.14494C= (p.His4832=) c.14410C= (p.His4804=) | |
| 19 | g.38580114C>G | CA405687410 | RYR1 | c.1433C>G c.2830C>G c.2802C>G c.14497C>G (p.His4833Asp) c.14482C>G (p.His4828Asp) c.14479C>G (p.His4827Asp) c.14464C>G (p.His4822Asp) c.14494C>G (p.His4832Asp) c.14410C>G (p.His4804Asp) | |
| 19 | g.38580114C>T | CA024158 | RYR1 | c.1433C>T c.2830C>T c.2802C>T c.14497C>T (p.His4833Tyr) c.14482C>T (p.His4828Tyr) c.14479C>T (p.His4827Tyr) c.14464C>T (p.His4822Tyr) c.14494C>T (p.His4832Tyr) c.14410C>T (p.His4804Tyr) | ClinVar dbSNP |
| 19 | g.38580115A>C | CA405687420 | RYR1 | c.1434A>C c.2831A>C c.2803A>C c.14498A>C (p.His4833Pro) c.14483A>C (p.His4828Pro) c.14480A>C (p.His4827Pro) c.14465A>C (p.His4822Pro) c.14495A>C (p.His4832Pro) c.14411A>C (p.His4804Pro) | |
| 19 | g.38580115A>G | CA405687419 | RYR1 | c.1434A>G c.2831A>G c.2803A>G c.14498A>G (p.His4833Arg) c.14483A>G (p.His4828Arg) c.14480A>G (p.His4827Arg) c.14465A>G (p.His4822Arg) c.14495A>G (p.His4832Arg) c.14411A>G (p.His4804Arg) | |
| 19 | g.38580115A>T | CA405687417 | RYR1 | c.1434A>T c.2831A>T c.2803A>T c.14498A>T (p.His4833Leu) c.14483A>T (p.His4828Leu) c.14480A>T (p.His4827Leu) c.14465A>T (p.His4822Leu) c.14495A>T (p.His4832Leu) c.14411A>T (p.His4804Leu) | |
| 19 | g.38580116C>A | CA405687422 | RYR1 | c.1435C>A c.2832C>A c.2804C>A c.14499C>A (p.His4833Gln) c.14484C>A (p.His4828Gln) c.14481C>A (p.His4827Gln) c.14466C>A (p.His4822Gln) c.14496C>A (p.His4832Gln) c.14412C>A (p.His4804Gln) | |
| 19 | g.38580116C>G | CA405687424 | RYR1 | c.1435C>G c.2832C>G c.2804C>G c.14499C>G (p.His4833Gln) c.14484C>G (p.His4828Gln) c.14481C>G (p.His4827Gln) c.14466C>G (p.His4822Gln) c.14496C>G (p.His4832Gln) c.14412C>G (p.His4804Gln) | |
| 19 | g.38580116C>T | CA081236 | RYR1 | c.1435C>T c.2832C>T c.2804C>T c.14499C>T (p.His4833=) c.14484C>T (p.His4828=) c.14481C>T (p.His4827=) c.14466C>T (p.His4822=) c.14496C>T (p.His4832=) c.14412C>T (p.His4804=) | |
| 19 | g.38580117A>C | CA405687425 | RYR1 | c.1436A>C c.2833A>C c.2805A>C c.14500A>C (p.Asn4834His) c.14485A>C (p.Asn4829His) c.14482A>C (p.Asn4828His) c.14467A>C (p.Asn4823His) c.14497A>C (p.Asn4833His) c.14413A>C (p.Asn4805His) | |
| 19 | g.38580117A>G | CA405687426 | RYR1 | c.1436A>G c.2833A>G c.2805A>G c.14500A>G (p.Asn4834Asp) c.14485A>G (p.Asn4829Asp) c.14482A>G (p.Asn4828Asp) c.14467A>G (p.Asn4823Asp) c.14497A>G (p.Asn4833Asp) c.14413A>G (p.Asn4805Asp) | |
| 19 | g.38580117A>T | CA405687428 | RYR1 | c.1436A>T c.2833A>T c.2805A>T c.14500A>T (p.Asn4834Tyr) c.14485A>T (p.Asn4829Tyr) c.14482A>T (p.Asn4828Tyr) c.14467A>T (p.Asn4823Tyr) c.14497A>T (p.Asn4833Tyr) c.14413A>T (p.Asn4805Tyr) | |
| 19 | g.38580118A>C | CA405687431 | RYR1 | c.1437A>C c.2834A>C c.2806A>C c.14501A>C (p.Asn4834Thr) c.14486A>C (p.Asn4829Thr) c.14483A>C (p.Asn4828Thr) c.14468A>C (p.Asn4823Thr) c.14498A>C (p.Asn4833Thr) c.14414A>C (p.Asn4805Thr) | |
| 19 | g.38580118A>G | CA405687432 | RYR1 | c.1437A>G c.2834A>G c.2806A>G c.14501A>G (p.Asn4834Ser) c.14486A>G (p.Asn4829Ser) c.14483A>G (p.Asn4828Ser) c.14468A>G (p.Asn4823Ser) c.14498A>G (p.Asn4833Ser) c.14414A>G (p.Asn4805Ser) | |
| 19 | g.38580118A>T | CA405687434 | RYR1 | c.1437A>T c.2834A>T c.2806A>T c.14501A>T (p.Asn4834Ile) c.14486A>T (p.Asn4829Ile) c.14483A>T (p.Asn4828Ile) c.14468A>T (p.Asn4823Ile) c.14498A>T (p.Asn4833Ile) c.14414A>T (p.Asn4805Ile) | |
| 19 | g.38580119T>A | CA405687435 | RYR1 | c.1438T>A c.2835T>A c.2807T>A c.14502T>A (p.Asn4834Lys) c.14487T>A (p.Asn4829Lys) c.14484T>A (p.Asn4828Lys) c.14469T>A (p.Asn4823Lys) c.14499T>A (p.Asn4833Lys) c.14415T>A (p.Asn4805Lys) | |
| 19 | g.38580119T>C | CA507356104 | RYR1 | c.1438T>C c.2835T>C c.2807T>C c.14502T>C (p.Asn4834=) c.14487T>C (p.Asn4829=) c.14484T>C (p.Asn4828=) c.14469T>C (p.Asn4823=) c.14499T>C (p.Asn4833=) c.14415T>C (p.Asn4805=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580119T>G | CA405687436 | RYR1 | c.1438T>G c.2835T>G c.2807T>G c.14502T>G (p.Asn4834Lys) c.14487T>G (p.Asn4829Lys) c.14484T>G (p.Asn4828Lys) c.14469T>G (p.Asn4823Lys) c.14499T>G (p.Asn4833Lys) c.14415T>G (p.Asn4805Lys) | |
| 19 | g.38580119T= | CA2335092309 | RYR1 | c.1438T= c.2835T= c.2807T= c.14502T= (p.Asn4834=) c.14487T= (p.Asn4829=) c.14484T= (p.Asn4828=) c.14469T= (p.Asn4823=) c.14499T= (p.Asn4833=) c.14415T= (p.Asn4805=) | |
| 19 | g.38580120G>A | CA405687437 | RYR1 | c.1439G>A c.2836G>A c.2808G>A c.14503G>A (p.Gly4835Arg) c.14488G>A (p.Gly4830Arg) c.14485G>A (p.Gly4829Arg) c.14470G>A (p.Gly4824Arg) c.14500G>A (p.Gly4834Arg) c.14416G>A (p.Gly4806Arg) | |
| 19 | g.38580120G>C | CA405687439 | RYR1 | c.1439G>C c.2836G>C c.2808G>C c.14503G>C (p.Gly4835Arg) c.14488G>C (p.Gly4830Arg) c.14485G>C (p.Gly4829Arg) c.14470G>C (p.Gly4824Arg) c.14500G>C (p.Gly4834Arg) c.14416G>C (p.Gly4806Arg) | |
| 19 | g.38580120G>T | CA405687441 | RYR1 | c.1439G>T c.2836G>T c.2808G>T c.14503G>T (p.Gly4835Trp) c.14488G>T (p.Gly4830Trp) c.14485G>T (p.Gly4829Trp) c.14470G>T (p.Gly4824Trp) c.14500G>T (p.Gly4834Trp) c.14416G>T (p.Gly4806Trp) | |
| 19 | g.38580121G>A | CA405687447 | RYR1 | c.1440G>A c.2837G>A c.2809G>A c.14504G>A (p.Gly4835Glu) c.14489G>A (p.Gly4830Glu) c.14486G>A (p.Gly4829Glu) c.14471G>A (p.Gly4824Glu) c.14501G>A (p.Gly4834Glu) c.14417G>A (p.Gly4806Glu) | |
| 19 | g.38580121G>C | CA405687443 | RYR1 | c.1440G>C c.2837G>C c.2809G>C c.14504G>C (p.Gly4835Ala) c.14489G>C (p.Gly4830Ala) c.14486G>C (p.Gly4829Ala) c.14471G>C (p.Gly4824Ala) c.14501G>C (p.Gly4834Ala) c.14417G>C (p.Gly4806Ala) | |
| 19 | g.38580121G>T | CA405687445 | RYR1 | c.1440G>T c.2837G>T c.2809G>T c.14504G>T (p.Gly4835Val) c.14489G>T (p.Gly4830Val) c.14486G>T (p.Gly4829Val) c.14471G>T (p.Gly4824Val) c.14501G>T (p.Gly4834Val) c.14417G>T (p.Gly4806Val) | |
| 19 | g.38580122G>A | CA024159 | RYR1 | c.1441G>A c.2838G>A c.2810G>A c.14505G>A (p.Gly4835=) c.14490G>A (p.Gly4830=) c.14487G>A (p.Gly4829=) c.14472G>A (p.Gly4824=) c.14502G>A (p.Gly4834=) c.14418G>A (p.Gly4806=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580122G>C | CA507356107 | RYR1 | c.1441G>C c.2838G>C c.2810G>C c.14505G>C (p.Gly4835=) c.14490G>C (p.Gly4830=) c.14487G>C (p.Gly4829=) c.14472G>C (p.Gly4824=) c.14502G>C (p.Gly4834=) c.14418G>C (p.Gly4806=) | gnomAD v4 |
| 19 | g.38580122G= | CA2335092310 | RYR1 | c.1441G= c.2838G= c.2810G= c.14505G= (p.Gly4835=) c.14490G= (p.Gly4830=) c.14487G= (p.Gly4829=) c.14472G= (p.Gly4824=) c.14502G= (p.Gly4834=) c.14418G= (p.Gly4806=) | |
| 19 | g.38580122G>T | CA507356108 | RYR1 | c.1441G>T c.2838G>T c.2810G>T c.14505G>T (p.Gly4835=) c.14490G>T (p.Gly4830=) c.14487G>T (p.Gly4829=) c.14472G>T (p.Gly4824=) c.14502G>T (p.Gly4834=) c.14418G>T (p.Gly4806=) | |
| 19 | g.38580123A>C | CA405687451 | RYR1 | c.1442A>C c.2839A>C c.2811A>C c.14506A>C (p.Lys4836Gln) c.14491A>C (p.Lys4831Gln) c.14488A>C (p.Lys4830Gln) c.14473A>C (p.Lys4825Gln) c.14503A>C (p.Lys4835Gln) c.14419A>C (p.Lys4807Gln) | |
| 19 | g.38580123A>G | CA405687452 | RYR1 | c.1442A>G c.2839A>G c.2811A>G c.14506A>G (p.Lys4836Glu) c.14491A>G (p.Lys4831Glu) c.14488A>G (p.Lys4830Glu) c.14473A>G (p.Lys4825Glu) c.14503A>G (p.Lys4835Glu) c.14419A>G (p.Lys4807Glu) | |
| 19 | g.38580123A>T | CA405687454 | RYR1 | c.1442A>T c.2839A>T c.2811A>T c.14506A>T (p.Lys4836Ter) c.14491A>T (p.Lys4831Ter) c.14488A>T (p.Lys4830Ter) c.14473A>T (p.Lys4825Ter) c.14503A>T (p.Lys4835Ter) c.14419A>T (p.Lys4807Ter) | |
| 19 | g.38580124A>C | CA405687456 | RYR1 | c.1443A>C c.2840A>C c.2812A>C c.14507A>C (p.Lys4836Thr) c.14492A>C (p.Lys4831Thr) c.14489A>C (p.Lys4830Thr) c.14474A>C (p.Lys4825Thr) c.14504A>C (p.Lys4835Thr) c.14420A>C (p.Lys4807Thr) | |
| 19 | g.38580124A>G | CA405687457 | RYR1 | c.1443A>G c.2840A>G c.2812A>G c.14507A>G (p.Lys4836Arg) c.14492A>G (p.Lys4831Arg) c.14489A>G (p.Lys4830Arg) c.14474A>G (p.Lys4825Arg) c.14504A>G (p.Lys4835Arg) c.14420A>G (p.Lys4807Arg) | |
| 19 | g.38580124A>T | CA405687458 | RYR1 | c.1443A>T c.2840A>T c.2812A>T c.14507A>T (p.Lys4836Ile) c.14492A>T (p.Lys4831Ile) c.14489A>T (p.Lys4830Ile) c.14474A>T (p.Lys4825Ile) c.14504A>T (p.Lys4835Ile) c.14420A>T (p.Lys4807Ile) | |
| 19 | g.38580125A= | CA2335092311 | RYR1 | c.1444A= c.2841A= c.2813A= c.14508A= (p.Lys4836=) c.14493A= (p.Lys4831=) c.14490A= (p.Lys4830=) c.14475A= (p.Lys4825=) c.14505A= (p.Lys4835=) c.14421A= (p.Lys4807=) | |
| 19 | g.38580125A>C | CA405687460 | RYR1 | c.1444A>C c.2841A>C c.2813A>C c.14508A>C (p.Lys4836Asn) c.14493A>C (p.Lys4831Asn) c.14490A>C (p.Lys4830Asn) c.14475A>C (p.Lys4825Asn) c.14505A>C (p.Lys4835Asn) c.14421A>C (p.Lys4807Asn) | |
| 19 | g.38580125A>G | CA507356112 | RYR1 | c.1444A>G c.2841A>G c.2813A>G c.14508A>G (p.Lys4836=) c.14493A>G (p.Lys4831=) c.14490A>G (p.Lys4830=) c.14475A>G (p.Lys4825=) c.14505A>G (p.Lys4835=) c.14421A>G (p.Lys4807=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580125A>T | CA405687461 | RYR1 | c.1444A>T c.2841A>T c.2813A>T c.14508A>T (p.Lys4836Asn) c.14493A>T (p.Lys4831Asn) c.14490A>T (p.Lys4830Asn) c.14475A>T (p.Lys4825Asn) c.14505A>T (p.Lys4835Asn) c.14421A>T (p.Lys4807Asn) | |
| 19 | g.38580126C>A | CA405687464 | RYR1 | c.1445C>A c.2842C>A c.2814C>A c.14509C>A (p.Gln4837Lys) c.14494C>A (p.Gln4832Lys) c.14491C>A (p.Gln4831Lys) c.14476C>A (p.Gln4826Lys) c.14506C>A (p.Gln4836Lys) c.14422C>A (p.Gln4808Lys) | ClinVar dbSNP |
| 19 | g.38580126C= | CA2335092313 | RYR1 | c.1445C= c.2842C= c.2814C= c.14509C= (p.Gln4837=) c.14494C= (p.Gln4832=) c.14491C= (p.Gln4831=) c.14476C= (p.Gln4826=) c.14506C= (p.Gln4836=) c.14422C= (p.Gln4808=) | |
| 19 | g.38580126C>G | CA405687465 | RYR1 | c.1445C>G c.2842C>G c.2814C>G c.14509C>G (p.Gln4837Glu) c.14494C>G (p.Gln4832Glu) c.14491C>G (p.Gln4831Glu) c.14476C>G (p.Gln4826Glu) c.14506C>G (p.Gln4836Glu) c.14422C>G (p.Gln4808Glu) | ClinVar dbSNP |
| 19 | g.38580126C>T | CA405687467 | RYR1 | c.1445C>T c.2842C>T c.2814C>T c.14509C>T (p.Gln4837Ter) c.14494C>T (p.Gln4832Ter) c.14491C>T (p.Gln4831Ter) c.14476C>T (p.Gln4826Ter) c.14506C>T (p.Gln4836Ter) c.14422C>T (p.Gln4808Ter) | |
| 19 | g.38580126_38580127delinsCA | CA2335092312 | RYR1 | c.1445_1446delinsCA c.2842_2843delinsCA c.2814_2815delinsCA c.14509_14510delinsCA (p.Gln4837=) c.14494_14495delinsCA (p.Gln4832=) c.14491_14492delinsCA (p.Gln4831=) c.14476_14477delinsCA (p.Gln4826=) c.14506_14507delinsCA (p.Gln4836=) c.14422_14423delinsCA (p.Gln4808=) | |
| 19 | g.38580127del | CA024161 | RYR1 | c.1446del c.2843del c.2815del c.14510del (p.Gln4837ArgfsTer3) c.14495del (p.Gln4832ArgfsTer3) c.14492del (p.Gln4831ArgfsTer3) c.14477del (p.Gln4826ArgfsTer3) c.14507del (p.Gln4836ArgfsTer3) c.14423del (p.Gln4808ArgfsTer3) | ClinVar dbSNP |
| 19 | g.38580127A>C | CA405687474 | RYR1 | c.1446A>C c.2843A>C c.2815A>C c.14510A>C (p.Gln4837Pro) c.14495A>C (p.Gln4832Pro) c.14492A>C (p.Gln4831Pro) c.14477A>C (p.Gln4826Pro) c.14507A>C (p.Gln4836Pro) c.14423A>C (p.Gln4808Pro) | |
| 19 | g.38580127A>G | CA405687476 | RYR1 | c.1446A>G c.2843A>G c.2815A>G c.14510A>G (p.Gln4837Arg) c.14495A>G (p.Gln4832Arg) c.14492A>G (p.Gln4831Arg) c.14477A>G (p.Gln4826Arg) c.14507A>G (p.Gln4836Arg) c.14423A>G (p.Gln4808Arg) | |
| 19 | g.38580127A>T | CA405687472 | RYR1 | c.1446A>T c.2843A>T c.2815A>T c.14510A>T (p.Gln4837Leu) c.14495A>T (p.Gln4832Leu) c.14492A>T (p.Gln4831Leu) c.14477A>T (p.Gln4826Leu) c.14507A>T (p.Gln4836Leu) c.14423A>T (p.Gln4808Leu) | |
| 19 | g.38580128G>A | CA507356119 | RYR1 | c.1447G>A c.2844G>A c.2816G>A c.14511G>A (p.Gln4837=) c.14496G>A (p.Gln4832=) c.14493G>A (p.Gln4831=) c.14478G>A (p.Gln4826=) c.14508G>A (p.Gln4836=) c.14424G>A (p.Gln4808=) | |
| 19 | g.38580128G>C | CA405687481 | RYR1 | c.1447G>C c.2844G>C c.2816G>C c.14511G>C (p.Gln4837His) c.14496G>C (p.Gln4832His) c.14493G>C (p.Gln4831His) c.14478G>C (p.Gln4826His) c.14508G>C (p.Gln4836His) c.14424G>C (p.Gln4808His) | |
| 19 | g.38580128G>T | CA405687478 | RYR1 | c.1447G>T c.2844G>T c.2816G>T c.14511G>T (p.Gln4837His) c.14496G>T (p.Gln4832His) c.14493G>T (p.Gln4831His) c.14478G>T (p.Gln4826His) c.14508G>T (p.Gln4836His) c.14424G>T (p.Gln4808His) | |
| 19 | g.38580129G>A | CA405687486 | RYR1 | c.1447+1G>A c.2844+1G>A c.2816+1G>A c.14511+1G>A (n.14511+1G>A) c.14496+1G>A (n.14496+1G>A) c.14493+1G>A (n.14493+1G>A) c.14478+1G>A (n.14478+1G>A) c.14508+1G>A (n.14508+1G>A) c.14424+1G>A (n.14424+1G>A) | |
| 19 | g.38580129G>C | CA405687483 | RYR1 | c.1447+1G>C c.2844+1G>C c.2816+1G>C c.14511+1G>C (n.14511+1G>C) c.14496+1G>C (n.14496+1G>C) c.14493+1G>C (n.14493+1G>C) c.14478+1G>C (n.14478+1G>C) c.14508+1G>C (n.14508+1G>C) c.14424+1G>C (n.14424+1G>C) | |
| 19 | g.38580129G>T | CA405687485 | RYR1 | c.1447+1G>T c.2844+1G>T c.2816+1G>T c.14511+1G>T (n.14511+1G>T) c.14496+1G>T (n.14496+1G>T) c.14493+1G>T (n.14493+1G>T) c.14478+1G>T (n.14478+1G>T) c.14508+1G>T (n.14508+1G>T) c.14424+1G>T (n.14424+1G>T) | |
| 19 | g.38580132_38580133del | CA2584911010 | RYR1 | c.1447+4_1447+5del c.2844+4_2844+5del c.2816+4_2816+5del c.14511+4_14511+5del (n.14511+4_14511+5del) c.14496+4_14496+5del (n.14496+4_14496+5del) c.14493+4_14493+5del (n.14493+4_14493+5del) c.14478+4_14478+5del (n.14478+4_14478+5del) c.14508+4_14508+5del (n.14508+4_14508+5del) c.14424+4_14424+5del (n.14424+4_14424+5del) | gnomAD v4 |
| 19 | g.38580130T>A | CA405687488 | RYR1 | c.1447+2T>A c.2844+2T>A c.2816+2T>A c.14511+2T>A (n.14511+2T>A) c.14496+2T>A (n.14496+2T>A) c.14493+2T>A (n.14493+2T>A) c.14478+2T>A (n.14478+2T>A) c.14508+2T>A (n.14508+2T>A) c.14424+2T>A (n.14424+2T>A) | |
| 19 | g.38580130T>C | CA405687490 | RYR1 | c.1447+2T>C c.2844+2T>C c.2816+2T>C c.14511+2T>C (n.14511+2T>C) c.14496+2T>C (n.14496+2T>C) c.14493+2T>C (n.14493+2T>C) c.14478+2T>C (n.14478+2T>C) c.14508+2T>C (n.14508+2T>C) c.14424+2T>C (n.14424+2T>C) | |
| 19 | g.38580130T>G | CA405687492 | RYR1 | c.1447+2T>G c.2844+2T>G c.2816+2T>G c.14511+2T>G (n.14511+2T>G) c.14496+2T>G (n.14496+2T>G) c.14493+2T>G (n.14493+2T>G) c.14478+2T>G (n.14478+2T>G) c.14508+2T>G (n.14508+2T>G) c.14424+2T>G (n.14424+2T>G) | |
| 19 | g.38580131G>A | CA061343 | RYR1 | c.1447+3G>A c.2844+3G>A c.2816+3G>A c.14511+3G>A (n.14511+3G>A) c.14496+3G>A (n.14496+3G>A) c.14493+3G>A (n.14493+3G>A) c.14478+3G>A (n.14478+3G>A) c.14508+3G>A (n.14508+3G>A) c.14424+3G>A (n.14424+3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580131G= | CA2335092314 | RYR1 | c.1447+3G= c.2844+3G= c.2816+3G= c.14511+3G= (n.14511+3G=) c.14496+3G= (n.14496+3G=) c.14493+3G= (n.14493+3G=) c.14478+3G= (n.14478+3G=) c.14508+3G= (n.14508+3G=) c.14424+3G= (n.14424+3G=) | |
| 19 | g.38580133G= | CA2335092315 | RYR1 | c.1447+5G= c.2844+5G= c.2816+5G= c.14511+5G= (n.14511+5G=) c.14496+5G= (n.14496+5G=) c.14493+5G= (n.14493+5G=) c.14478+5G= (n.14478+5G=) c.14508+5G= (n.14508+5G=) c.14424+5G= (n.14424+5G=) | |
| 19 | g.38580133G>T | CA061352 | RYR1 | c.1447+5G>T c.2844+5G>T c.2816+5G>T c.14511+5G>T (n.14511+5G>T) c.14496+5G>T (n.14496+5G>T) c.14493+5G>T (n.14493+5G>T) c.14478+5G>T (n.14478+5G>T) c.14508+5G>T (n.14508+5G>T) c.14424+5G>T (n.14424+5G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580136G>A | CA308121711 | RYR1 | c.1447+8G>A c.2844+8G>A c.2816+8G>A c.14511+8G>A (n.14511+8G>A) c.14496+8G>A (n.14496+8G>A) c.14493+8G>A (n.14493+8G>A) c.14478+8G>A (n.14478+8G>A) c.14508+8G>A (n.14508+8G>A) c.14424+8G>A (n.14424+8G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580136G= | CA2335092316 | RYR1 | c.1447+8G= c.2844+8G= c.2816+8G= c.14511+8G= (n.14511+8G=) c.14496+8G= (n.14496+8G=) c.14493+8G= (n.14493+8G=) c.14478+8G= (n.14478+8G=) c.14508+8G= (n.14508+8G=) c.14424+8G= (n.14424+8G=) | |
| 19 | g.38580137A>T | CA2697556515 | RYR1 | c.1447+9A>T c.2844+9A>T c.2816+9A>T c.14511+9A>T (n.14511+9A>T) c.14496+9A>T (n.14496+9A>T) c.14493+9A>T (n.14493+9A>T) c.14478+9A>T (n.14478+9A>T) c.14508+9A>T (n.14508+9A>T) c.14424+9A>T (n.14424+9A>T) | ClinVar |
| 19 | g.38580138G>A | CA2584911012 | RYR1 | c.1447+10G>A c.2844+10G>A c.2816+10G>A c.14511+10G>A (n.14511+10G>A) c.14496+10G>A (n.14496+10G>A) c.14493+10G>A (n.14493+10G>A) c.14478+10G>A (n.14478+10G>A) c.14508+10G>A (n.14508+10G>A) c.14424+10G>A (n.14424+10G>A) | gnomAD v4 |
| 19 | g.38580138G>C | CA061334 | RYR1 | c.1447+10G>C c.2844+10G>C c.2816+10G>C c.14511+10G>C (n.14511+10G>C) c.14496+10G>C (n.14496+10G>C) c.14493+10G>C (n.14493+10G>C) c.14478+10G>C (n.14478+10G>C) c.14508+10G>C (n.14508+10G>C) c.14424+10G>C (n.14424+10G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580138G= | CA2335092317 | RYR1 | c.1447+10G= c.2844+10G= c.2816+10G= c.14511+10G= (n.14511+10G=) c.14496+10G= (n.14496+10G=) c.14493+10G= (n.14493+10G=) c.14478+10G= (n.14478+10G=) c.14508+10G= (n.14508+10G=) c.14424+10G= (n.14424+10G=) | |
| 19 | g.38580138G>T | CA2335092318 | RYR1 | c.1447+10G>T c.2844+10G>T c.2816+10G>T c.14511+10G>T (n.14511+10G>T) c.14496+10G>T (n.14496+10G>T) c.14493+10G>T (n.14493+10G>T) c.14478+10G>T (n.14478+10G>T) c.14508+10G>T (n.14508+10G>T) c.14424+10G>T (n.14424+10G>T) | dbSNP |
| 19 | g.38580141C>T | CA2584911013 | RYR1 | c.1447+13C>T c.2844+13C>T c.2816+13C>T c.14511+13C>T (n.14511+13C>T) c.14496+13C>T (n.14496+13C>T) c.14493+13C>T (n.14493+13C>T) c.14478+13C>T (n.14478+13C>T) c.14508+13C>T (n.14508+13C>T) c.14424+13C>T (n.14424+13C>T) | ClinVar gnomAD v4 |
| 19 | g.38580142C= | CA2335092319 | RYR1 | c.1447+14C= c.2844+14C= c.2816+14C= c.14511+14C= (n.14511+14C=) c.14496+14C= (n.14496+14C=) c.14493+14C= (n.14493+14C=) c.14478+14C= (n.14478+14C=) c.14508+14C= (n.14508+14C=) c.14424+14C= (n.14424+14C=) | |
| 19 | g.38580142C>T | CA882064610 | RYR1 | c.1447+14C>T c.2844+14C>T c.2816+14C>T c.14511+14C>T (n.14511+14C>T) c.14496+14C>T (n.14496+14C>T) c.14493+14C>T (n.14493+14C>T) c.14478+14C>T (n.14478+14C>T) c.14508+14C>T (n.14508+14C>T) c.14424+14C>T (n.14424+14C>T) | dbSNP |
| 19 | g.38580142_38580143insAGG | CA061336 | RYR1 | c.1447+14_1447+15insAGG c.2844+14_2844+15insAGG c.2816+14_2816+15insAGG c.14511+14_14511+15insAGG (n.14511+14_14511+15insAGG) c.14496+14_14496+15insAGG (n.14496+14_14496+15insAGG) c.14493+14_14493+15insAGG (n.14493+14_14493+15insAGG) c.14478+14_14478+15insAGG (n.14478+14_14478+15insAGG) c.14508+14_14508+15insAGG (n.14508+14_14508+15insAGG) c.14424+14_14424+15insAGG (n.14424+14_14424+15insAGG) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580144G>A | CA2740096907 | RYR1 | c.1447+16G>A c.2844+16G>A c.2816+16G>A c.14511+16G>A (n.14511+16G>A) c.14496+16G>A (n.14496+16G>A) c.14493+16G>A (n.14493+16G>A) c.14478+16G>A (n.14478+16G>A) c.14508+16G>A (n.14508+16G>A) c.14424+16G>A (n.14424+16G>A) | ClinVar |
| 19 | g.38580145G>A | CA2584911014 | RYR1 | c.1447+17G>A c.2844+17G>A c.2816+17G>A c.14511+17G>A (n.14511+17G>A) c.14496+17G>A (n.14496+17G>A) c.14493+17G>A (n.14493+17G>A) c.14478+17G>A (n.14478+17G>A) c.14508+17G>A (n.14508+17G>A) c.14424+17G>A (n.14424+17G>A) | gnomAD v4 |
| 19 | g.38580145G>C | CA2697556516 | RYR1 | c.1447+17G>C c.2844+17G>C c.2816+17G>C c.14511+17G>C (n.14511+17G>C) c.14496+17G>C (n.14496+17G>C) c.14493+17G>C (n.14493+17G>C) c.14478+17G>C (n.14478+17G>C) c.14508+17G>C (n.14508+17G>C) c.14424+17G>C (n.14424+17G>C) | ClinVar |
| 19 | g.38580146C>T | CA2584911015 | RYR1 | c.1447+18C>T c.2844+18C>T c.2816+18C>T c.14511+18C>T (n.14511+18C>T) c.14496+18C>T (n.14496+18C>T) c.14493+18C>T (n.14493+18C>T) c.14478+18C>T (n.14478+18C>T) c.14508+18C>T (n.14508+18C>T) c.14424+18C>T (n.14424+18C>T) | gnomAD v4 |
| 19 | g.38580148G>T | CA2584911016 | RYR1 | c.1447+20G>T c.2844+20G>T c.2816+20G>T c.14511+20G>T (n.14511+20G>T) c.14496+20G>T (n.14496+20G>T) c.14493+20G>T (n.14493+20G>T) c.14478+20G>T (n.14478+20G>T) c.14508+20G>T (n.14508+20G>T) c.14424+20G>T (n.14424+20G>T) | gnomAD v4 |
| 19 | g.38580149T>C | CA2584911017 | RYR1 | c.1447+21T>C c.2844+21T>C c.2816+21T>C c.14511+21T>C (n.14511+21T>C) c.14496+21T>C (n.14496+21T>C) c.14493+21T>C (n.14493+21T>C) c.14478+21T>C (n.14478+21T>C) c.14508+21T>C (n.14508+21T>C) c.14424+21T>C (n.14424+21T>C) | gnomAD v4 |
| 19 | g.38580149T>G | CA2335092321 | RYR1 | c.1447+21T>G c.2844+21T>G c.2816+21T>G c.14511+21T>G (n.14511+21T>G) c.14496+21T>G (n.14496+21T>G) c.14493+21T>G (n.14493+21T>G) c.14478+21T>G (n.14478+21T>G) c.14508+21T>G (n.14508+21T>G) c.14424+21T>G (n.14424+21T>G) | dbSNP |
| 19 | g.38580149T= | CA2335092320 | RYR1 | c.1447+21T= c.2844+21T= c.2816+21T= c.14511+21T= (n.14511+21T=) c.14496+21T= (n.14496+21T=) c.14493+21T= (n.14493+21T=) c.14478+21T= (n.14478+21T=) c.14508+21T= (n.14508+21T=) c.14424+21T= (n.14424+21T=) | |
| 19 | g.38580153G>T | CA2584911018 | RYR1 | c.1447+25G>T c.2844+25G>T c.2816+25G>T c.14511+25G>T (n.14511+25G>T) c.14496+25G>T (n.14496+25G>T) c.14493+25G>T (n.14493+25G>T) c.14478+25G>T (n.14478+25G>T) c.14508+25G>T (n.14508+25G>T) c.14424+25G>T (n.14424+25G>T) | gnomAD v4 |
| 19 | g.38580154C= | CA2335092322 | RYR1 | c.1447+26C= c.2844+26C= c.2816+26C= c.14511+26C= (n.14511+26C=) c.14496+26C= (n.14496+26C=) c.14493+26C= (n.14493+26C=) c.14478+26C= (n.14478+26C=) c.14508+26C= (n.14508+26C=) c.14424+26C= (n.14424+26C=) | |
| 19 | g.38580154C>G | CA2584911019 | RYR1 | c.1447+26C>G c.2844+26C>G c.2816+26C>G c.14511+26C>G (n.14511+26C>G) c.14496+26C>G (n.14496+26C>G) c.14493+26C>G (n.14493+26C>G) c.14478+26C>G (n.14478+26C>G) c.14508+26C>G (n.14508+26C>G) c.14424+26C>G (n.14424+26C>G) | gnomAD v4 |
| 19 | g.38580154C>T | CA061340 | RYR1 | c.1447+26C>T c.2844+26C>T c.2816+26C>T c.14511+26C>T (n.14511+26C>T) c.14496+26C>T (n.14496+26C>T) c.14493+26C>T (n.14493+26C>T) c.14478+26C>T (n.14478+26C>T) c.14508+26C>T (n.14508+26C>T) c.14424+26C>T (n.14424+26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580155G>A | CA308121731 | RYR1 | c.1447+27G>A c.2844+27G>A c.2816+27G>A c.14511+27G>A (n.14511+27G>A) c.14496+27G>A (n.14496+27G>A) c.14493+27G>A (n.14493+27G>A) c.14478+27G>A (n.14478+27G>A) c.14508+27G>A (n.14508+27G>A) c.14424+27G>A (n.14424+27G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580155G= | CA2335092323 | RYR1 | c.1447+27G= c.2844+27G= c.2816+27G= c.14511+27G= (n.14511+27G=) c.14496+27G= (n.14496+27G=) c.14493+27G= (n.14493+27G=) c.14478+27G= (n.14478+27G=) c.14508+27G= (n.14508+27G=) c.14424+27G= (n.14424+27G=) | |
| 19 | g.38580155G>T | CA995740377 | RYR1 | c.1447+27G>T c.2844+27G>T c.2816+27G>T c.14511+27G>T (n.14511+27G>T) c.14496+27G>T (n.14496+27G>T) c.14493+27G>T (n.14493+27G>T) c.14478+27G>T (n.14478+27G>T) c.14508+27G>T (n.14508+27G>T) c.14424+27G>T (n.14424+27G>T) | dbSNP gnomAD v4 |
| 19 | g.38580156T>A | CA308121740 | RYR1 | c.1447+28T>A c.2844+28T>A c.2816+28T>A c.14511+28T>A (n.14511+28T>A) c.14496+28T>A (n.14496+28T>A) c.14493+28T>A (n.14493+28T>A) c.14478+28T>A (n.14478+28T>A) c.14508+28T>A (n.14508+28T>A) c.14424+28T>A (n.14424+28T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580156T= | CA2335092324 | RYR1 | c.1447+28T= c.2844+28T= c.2816+28T= c.14511+28T= (n.14511+28T=) c.14496+28T= (n.14496+28T=) c.14493+28T= (n.14493+28T=) c.14478+28T= (n.14478+28T=) c.14508+28T= (n.14508+28T=) c.14424+28T= (n.14424+28T=) | |
| 19 | g.38580157G>A | CA308121750 | RYR1 | c.1447+29G>A c.2844+29G>A c.2816+29G>A c.14511+29G>A (n.14511+29G>A) c.14496+29G>A (n.14496+29G>A) c.14493+29G>A (n.14493+29G>A) c.14478+29G>A (n.14478+29G>A) c.14508+29G>A (n.14508+29G>A) c.14424+29G>A (n.14424+29G>A) | dbSNP |
| 19 | g.38580157G>C | CA2335092326 | RYR1 | c.1447+29G>C c.2844+29G>C c.2816+29G>C c.14511+29G>C (n.14511+29G>C) c.14496+29G>C (n.14496+29G>C) c.14493+29G>C (n.14493+29G>C) c.14478+29G>C (n.14478+29G>C) c.14508+29G>C (n.14508+29G>C) c.14424+29G>C (n.14424+29G>C) | dbSNP gnomAD v4 |
| 19 | g.38580157G= | CA2335092325 | RYR1 | c.1447+29G= c.2844+29G= c.2816+29G= c.14511+29G= (n.14511+29G=) c.14496+29G= (n.14496+29G=) c.14493+29G= (n.14493+29G=) c.14478+29G= (n.14478+29G=) c.14508+29G= (n.14508+29G=) c.14424+29G= (n.14424+29G=) | |
| 19 | g.38580160C>A | CA2335092328 | RYR1 | c.1447+32C>A c.2844+32C>A c.2816+32C>A c.14511+32C>A (n.14511+32C>A) c.14496+32C>A (n.14496+32C>A) c.14493+32C>A (n.14493+32C>A) c.14478+32C>A (n.14478+32C>A) c.14508+32C>A (n.14508+32C>A) c.14424+32C>A (n.14424+32C>A) | dbSNP gnomAD v4 |
| 19 | g.38580160C= | CA2335092327 | RYR1 | c.1447+32C= c.2844+32C= c.2816+32C= c.14511+32C= (n.14511+32C=) c.14496+32C= (n.14496+32C=) c.14493+32C= (n.14493+32C=) c.14478+32C= (n.14478+32C=) c.14508+32C= (n.14508+32C=) c.14424+32C= (n.14424+32C=) | |
| 19 | g.38580160C>T | CA061342 | RYR1 | c.1447+32C>T c.2844+32C>T c.2816+32C>T c.14511+32C>T (n.14511+32C>T) c.14496+32C>T (n.14496+32C>T) c.14493+32C>T (n.14493+32C>T) c.14478+32C>T (n.14478+32C>T) c.14508+32C>T (n.14508+32C>T) c.14424+32C>T (n.14424+32C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580161C>A | CA2576827511 | RYR1 | c.1447+33C>A c.2844+33C>A c.2816+33C>A c.14511+33C>A (n.14511+33C>A) c.14496+33C>A (n.14496+33C>A) c.14493+33C>A (n.14493+33C>A) c.14478+33C>A (n.14478+33C>A) c.14508+33C>A (n.14508+33C>A) c.14424+33C>A (n.14424+33C>A) | |
| 19 | g.38580161C= | CA2335092329 | RYR1 | c.1447+33C= c.2844+33C= c.2816+33C= c.14511+33C= (n.14511+33C=) c.14496+33C= (n.14496+33C=) c.14493+33C= (n.14493+33C=) c.14478+33C= (n.14478+33C=) c.14508+33C= (n.14508+33C=) c.14424+33C= (n.14424+33C=) | |
| 19 | g.38580161C>T | CA2335092330 | RYR1 | c.1447+33C>T c.2844+33C>T c.2816+33C>T c.14511+33C>T (n.14511+33C>T) c.14496+33C>T (n.14496+33C>T) c.14493+33C>T (n.14493+33C>T) c.14478+33C>T (n.14478+33C>T) c.14508+33C>T (n.14508+33C>T) c.14424+33C>T (n.14424+33C>T) | dbSNP |
| 19 | g.38580162A= | CA2335092331 | RYR1 | c.1447+34A= c.2844+34A= c.2816+34A= c.14511+34A= (n.14511+34A=) c.14496+34A= (n.14496+34A=) c.14493+34A= (n.14493+34A=) c.14478+34A= (n.14478+34A=) c.14508+34A= (n.14508+34A=) c.14424+34A= (n.14424+34A=) | |
| 19 | g.38580162A>G | CA2584911020 | RYR1 | c.1447+34A>G c.2844+34A>G c.2816+34A>G c.14511+34A>G (n.14511+34A>G) c.14496+34A>G (n.14496+34A>G) c.14493+34A>G (n.14493+34A>G) c.14478+34A>G (n.14478+34A>G) c.14508+34A>G (n.14508+34A>G) c.14424+34A>G (n.14424+34A>G) | gnomAD v4 |
| 19 | g.38580162A>T | CA633066836 | RYR1 | c.1447+34A>T c.2844+34A>T c.2816+34A>T c.14511+34A>T (n.14511+34A>T) c.14496+34A>T (n.14496+34A>T) c.14493+34A>T (n.14493+34A>T) c.14478+34A>T (n.14478+34A>T) c.14508+34A>T (n.14508+34A>T) c.14424+34A>T (n.14424+34A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580163G>A | CA308121755 | RYR1 | c.1447+35G>A c.2844+35G>A c.2816+35G>A c.14511+35G>A (n.14511+35G>A) c.14496+35G>A (n.14496+35G>A) c.14493+35G>A (n.14493+35G>A) c.14478+35G>A (n.14478+35G>A) c.14508+35G>A (n.14508+35G>A) c.14424+35G>A (n.14424+35G>A) | dbSNP |
| 19 | g.38580163G= | CA2335092332 | RYR1 | c.1447+35G= c.2844+35G= c.2816+35G= c.14511+35G= (n.14511+35G=) c.14496+35G= (n.14496+35G=) c.14493+35G= (n.14493+35G=) c.14478+35G= (n.14478+35G=) c.14508+35G= (n.14508+35G=) c.14424+35G= (n.14424+35G=) | |
| 19 | g.38580164C>T | CA2584911021 | RYR1 | c.1447+36C>T c.2844+36C>T c.2816+36C>T c.14511+36C>T (n.14511+36C>T) c.14496+36C>T (n.14496+36C>T) c.14493+36C>T (n.14493+36C>T) c.14478+36C>T (n.14478+36C>T) c.14508+36C>T (n.14508+36C>T) c.14424+36C>T (n.14424+36C>T) | gnomAD v4 |
| 19 | g.38580167G>A | CA2584911022 | RYR1 | c.1447+39G>A c.2844+39G>A c.2816+39G>A c.14511+39G>A (n.14511+39G>A) c.14496+39G>A (n.14496+39G>A) c.14493+39G>A (n.14493+39G>A) c.14478+39G>A (n.14478+39G>A) c.14508+39G>A (n.14508+39G>A) c.14424+39G>A (n.14424+39G>A) | gnomAD v4 |
| 19 | g.38580168G= | CA2335092334 | RYR1 | c.1447+40G= c.2844+40G= c.2816+40G= c.14511+40G= (n.14511+40G=) c.14496+40G= (n.14496+40G=) c.14493+40G= (n.14493+40G=) c.14478+40G= (n.14478+40G=) c.14508+40G= (n.14508+40G=) c.14424+40G= (n.14424+40G=) | |
| 19 | g.38580168G>T | CA2335092333 | RYR1 | c.1447+40G>T c.2844+40G>T c.2816+40G>T c.14511+40G>T (n.14511+40G>T) c.14496+40G>T (n.14496+40G>T) c.14493+40G>T (n.14493+40G>T) c.14478+40G>T (n.14478+40G>T) c.14508+40G>T (n.14508+40G>T) c.14424+40G>T (n.14424+40G>T) | dbSNP |
| 19 | g.38580169A>G | CA2584911023 | RYR1 | c.1447+41A>G c.2844+41A>G c.2816+41A>G c.14511+41A>G (n.14511+41A>G) c.14496+41A>G (n.14496+41A>G) c.14493+41A>G (n.14493+41A>G) c.14478+41A>G (n.14478+41A>G) c.14508+41A>G (n.14508+41A>G) c.14424+41A>G (n.14424+41A>G) | gnomAD v4 |
| 19 | g.38580170C>A | CA2335092336 | RYR1 | c.1447+42C>A c.2844+42C>A c.2816+42C>A c.14511+42C>A (n.14511+42C>A) c.14496+42C>A (n.14496+42C>A) c.14493+42C>A (n.14493+42C>A) c.14478+42C>A (n.14478+42C>A) c.14508+42C>A (n.14508+42C>A) c.14424+42C>A (n.14424+42C>A) | dbSNP gnomAD v4 |
| 19 | g.38580170C= | CA2335092335 | RYR1 | c.1447+42C= c.2844+42C= c.2816+42C= c.14511+42C= (n.14511+42C=) c.14496+42C= (n.14496+42C=) c.14493+42C= (n.14493+42C=) c.14478+42C= (n.14478+42C=) c.14508+42C= (n.14508+42C=) c.14424+42C= (n.14424+42C=) | |
| 19 | g.38580170C>G | CA2565880981 | RYR1 | c.1447+42C>G c.2844+42C>G c.2816+42C>G c.14511+42C>G (n.14511+42C>G) c.14496+42C>G (n.14496+42C>G) c.14493+42C>G (n.14493+42C>G) c.14478+42C>G (n.14478+42C>G) c.14508+42C>G (n.14508+42C>G) c.14424+42C>G (n.14424+42C>G) | |
| 19 | g.38580171C= | CA2335092337 | RYR1 | c.1447+43C= c.2844+43C= c.2816+43C= c.14511+43C= (n.14511+43C=) c.14496+43C= (n.14496+43C=) c.14493+43C= (n.14493+43C=) c.14478+43C= (n.14478+43C=) c.14508+43C= (n.14508+43C=) c.14424+43C= (n.14424+43C=) | |
| 19 | g.38580171C>G | CA061347 | RYR1 | c.1447+43C>G c.2844+43C>G c.2816+43C>G c.14511+43C>G (n.14511+43C>G) c.14496+43C>G (n.14496+43C>G) c.14493+43C>G (n.14493+43C>G) c.14478+43C>G (n.14478+43C>G) c.14508+43C>G (n.14508+43C>G) c.14424+43C>G (n.14424+43C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580174C>A | CA2335092339 | RYR1 | c.1447+46C>A c.2844+46C>A c.2816+46C>A c.14511+46C>A (n.14511+46C>A) c.14496+46C>A (n.14496+46C>A) c.14493+46C>A (n.14493+46C>A) c.14478+46C>A (n.14478+46C>A) c.14508+46C>A (n.14508+46C>A) c.14424+46C>A (n.14424+46C>A) | dbSNP |
| 19 | g.38580174C= | CA2335092338 | RYR1 | c.1447+46C= c.2844+46C= c.2816+46C= c.14511+46C= (n.14511+46C=) c.14496+46C= (n.14496+46C=) c.14493+46C= (n.14493+46C=) c.14478+46C= (n.14478+46C=) c.14508+46C= (n.14508+46C=) c.14424+46C= (n.14424+46C=) | |
| 19 | g.38580174C>T | CA061348 | RYR1 | c.1447+46C>T c.2844+46C>T c.2816+46C>T c.14511+46C>T (n.14511+46C>T) c.14496+46C>T (n.14496+46C>T) c.14493+46C>T (n.14493+46C>T) c.14478+46C>T (n.14478+46C>T) c.14508+46C>T (n.14508+46C>T) c.14424+46C>T (n.14424+46C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580175G>A | CA633066837 | RYR1 | c.1447+47G>A c.2844+47G>A c.2816+47G>A c.14511+47G>A (n.14511+47G>A) c.14496+47G>A (n.14496+47G>A) c.14493+47G>A (n.14493+47G>A) c.14478+47G>A (n.14478+47G>A) c.14508+47G>A (n.14508+47G>A) c.14424+47G>A (n.14424+47G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580175G= | CA2335092340 | RYR1 | c.1447+47G= c.2844+47G= c.2816+47G= c.14511+47G= (n.14511+47G=) c.14496+47G= (n.14496+47G=) c.14493+47G= (n.14493+47G=) c.14478+47G= (n.14478+47G=) c.14508+47G= (n.14508+47G=) c.14424+47G= (n.14424+47G=) | |
| 19 | g.38580178G>A | CA2584911024 | RYR1 | c.1447+50G>A c.2844+50G>A c.2816+50G>A c.14511+50G>A (n.14511+50G>A) c.14496+50G>A (n.14496+50G>A) c.14493+50G>A (n.14493+50G>A) c.14478+50G>A (n.14478+50G>A) c.14508+50G>A (n.14508+50G>A) c.14424+50G>A (n.14424+50G>A) | gnomAD v4 |
| 19 | g.38580181G>A | CA2576827512 | RYR1 | c.1447+53G>A c.2844+53G>A c.2816+53G>A c.14511+53G>A (n.14511+53G>A) c.14496+53G>A (n.14496+53G>A) c.14493+53G>A (n.14493+53G>A) c.14478+53G>A (n.14478+53G>A) c.14508+53G>A (n.14508+53G>A) c.14424+53G>A (n.14424+53G>A) | |
| 19 | g.38580181G>C | CA2584911025 | RYR1 | c.1447+53G>C c.2844+53G>C c.2816+53G>C c.14511+53G>C (n.14511+53G>C) c.14496+53G>C (n.14496+53G>C) c.14493+53G>C (n.14493+53G>C) c.14478+53G>C (n.14478+53G>C) c.14508+53G>C (n.14508+53G>C) c.14424+53G>C (n.14424+53G>C) | gnomAD v4 |
| 19 | g.38580182T>C | CA2584911026 | RYR1 | c.1447+54T>C c.2844+54T>C c.2816+54T>C c.14511+54T>C (n.14511+54T>C) c.14496+54T>C (n.14496+54T>C) c.14493+54T>C (n.14493+54T>C) c.14478+54T>C (n.14478+54T>C) c.14508+54T>C (n.14508+54T>C) c.14424+54T>C (n.14424+54T>C) | gnomAD v4 |
| 19 | g.38580183G>A | CA882064611 | RYR1 | c.1447+55G>A c.2844+55G>A c.2816+55G>A c.14511+55G>A (n.14511+55G>A) c.14496+55G>A (n.14496+55G>A) c.14493+55G>A (n.14493+55G>A) c.14478+55G>A (n.14478+55G>A) c.14508+55G>A (n.14508+55G>A) c.14424+55G>A (n.14424+55G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580183G= | CA2335092341 | RYR1 | c.1447+55G= c.2844+55G= c.2816+55G= c.14511+55G= (n.14511+55G=) c.14496+55G= (n.14496+55G=) c.14493+55G= (n.14493+55G=) c.14478+55G= (n.14478+55G=) c.14508+55G= (n.14508+55G=) c.14424+55G= (n.14424+55G=) | |
| 19 | g.38580184G= | CA2335092342 | RYR1 | c.1447+56G= c.2844+56G= c.2816+56G= c.14511+56G= (n.14511+56G=) c.14496+56G= (n.14496+56G=) c.14493+56G= (n.14493+56G=) c.14478+56G= (n.14478+56G=) c.14508+56G= (n.14508+56G=) c.14424+56G= (n.14424+56G=) | |
| 19 | g.38580184G>T | CA995740382 | RYR1 | c.1447+56G>T c.2844+56G>T c.2816+56G>T c.14511+56G>T (n.14511+56G>T) c.14496+56G>T (n.14496+56G>T) c.14493+56G>T (n.14493+56G>T) c.14478+56G>T (n.14478+56G>T) c.14508+56G>T (n.14508+56G>T) c.14424+56G>T (n.14424+56G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580185G>A | CA2584911027 | RYR1 | c.1447+57G>A c.2844+57G>A c.2816+57G>A c.14511+57G>A (n.14511+57G>A) c.14496+57G>A (n.14496+57G>A) c.14493+57G>A (n.14493+57G>A) c.14478+57G>A (n.14478+57G>A) c.14508+57G>A (n.14508+57G>A) c.14424+57G>A (n.14424+57G>A) | gnomAD v4 |
| 19 | g.38580189T>G | CA2335092344 | RYR1 | c.1447+61T>G c.2844+61T>G c.2816+61T>G c.14511+61T>G (n.14511+61T>G) c.14496+61T>G (n.14496+61T>G) c.14493+61T>G (n.14493+61T>G) c.14478+61T>G (n.14478+61T>G) c.14508+61T>G (n.14508+61T>G) c.14424+61T>G (n.14424+61T>G) | dbSNP |
| 19 | g.38580189T= | CA2335092343 | RYR1 | c.1447+61T= c.2844+61T= c.2816+61T= c.14511+61T= (n.14511+61T=) c.14496+61T= (n.14496+61T=) c.14493+61T= (n.14493+61T=) c.14478+61T= (n.14478+61T=) c.14508+61T= (n.14508+61T=) c.14424+61T= (n.14424+61T=) | |
| 19 | g.38580190G>A | CA2335092346 | RYR1 | c.1447+62G>A c.2844+62G>A c.2816+62G>A c.14511+62G>A (n.14511+62G>A) c.14496+62G>A (n.14496+62G>A) c.14493+62G>A (n.14493+62G>A) c.14478+62G>A (n.14478+62G>A) c.14508+62G>A (n.14508+62G>A) c.14424+62G>A (n.14424+62G>A) | dbSNP gnomAD v4 |
| 19 | g.38580190G= | CA2335092345 | RYR1 | c.1447+62G= c.2844+62G= c.2816+62G= c.14511+62G= (n.14511+62G=) c.14496+62G= (n.14496+62G=) c.14493+62G= (n.14493+62G=) c.14478+62G= (n.14478+62G=) c.14508+62G= (n.14508+62G=) c.14424+62G= (n.14424+62G=) |