UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38580346G>T | CA2584911161 | RYR1 | c.1448-24G>T c.2845-24G>T c.2817-24G>T c.14512-24G>T (n.14512-24G>T) c.14497-24G>T (n.14497-24G>T) c.14494-24G>T (n.14494-24G>T) c.14479-24G>T (n.14479-24G>T) c.14509-24G>T (n.14509-24G>T) c.14425-24G>T (n.14425-24G>T) | gnomAD v4 |
| 19 | g.38580348C>A | CA308121895 | RYR1 | c.1448-22C>A c.2845-22C>A c.2817-22C>A c.14512-22C>A (n.14512-22C>A) c.14497-22C>A (n.14497-22C>A) c.14494-22C>A (n.14494-22C>A) c.14479-22C>A (n.14479-22C>A) c.14509-22C>A (n.14509-22C>A) c.14425-22C>A (n.14425-22C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580348C= | CA2335092430 | RYR1 | c.1448-22C= c.2845-22C= c.2817-22C= c.14512-22C= (n.14512-22C=) c.14497-22C= (n.14497-22C=) c.14494-22C= (n.14494-22C=) c.14479-22C= (n.14479-22C=) c.14509-22C= (n.14509-22C=) c.14425-22C= (n.14425-22C=) | |
| 19 | g.38580348C>T | CA2584911162 | RYR1 | c.1448-22C>T c.2845-22C>T c.2817-22C>T c.14512-22C>T (n.14512-22C>T) c.14497-22C>T (n.14497-22C>T) c.14494-22C>T (n.14494-22C>T) c.14479-22C>T (n.14479-22C>T) c.14509-22C>T (n.14509-22C>T) c.14425-22C>T (n.14425-22C>T) | gnomAD v4 |
| 19 | g.38580349C= | CA2335092431 | RYR1 | c.1448-21C= c.2845-21C= c.2817-21C= c.14512-21C= (n.14512-21C=) c.14497-21C= (n.14497-21C=) c.14494-21C= (n.14494-21C=) c.14479-21C= (n.14479-21C=) c.14509-21C= (n.14509-21C=) c.14425-21C= (n.14425-21C=) | |
| 19 | g.38580349C>T | CA633066913 | RYR1 | c.1448-21C>T c.2845-21C>T c.2817-21C>T c.14512-21C>T (n.14512-21C>T) c.14497-21C>T (n.14497-21C>T) c.14494-21C>T (n.14494-21C>T) c.14479-21C>T (n.14479-21C>T) c.14509-21C>T (n.14509-21C>T) c.14425-21C>T (n.14425-21C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580351G>A | CA2739276762 | RYR1 | c.1448-19G>A c.2845-19G>A c.2817-19G>A c.14512-19G>A (n.14512-19G>A) c.14497-19G>A (n.14497-19G>A) c.14494-19G>A (n.14494-19G>A) c.14479-19G>A (n.14479-19G>A) c.14509-19G>A (n.14509-19G>A) c.14425-19G>A (n.14425-19G>A) | ClinVar |
| 19 | g.38580354C>T | CA2584911163 | RYR1 | c.1448-16C>T c.2845-16C>T c.2817-16C>T c.14512-16C>T (n.14512-16C>T) c.14497-16C>T (n.14497-16C>T) c.14494-16C>T (n.14494-16C>T) c.14479-16C>T (n.14479-16C>T) c.14509-16C>T (n.14509-16C>T) c.14425-16C>T (n.14425-16C>T) | gnomAD v4 |
| 19 | g.38580355C>A | CA2584911165 | RYR1 | c.1448-15C>A c.2845-15C>A c.2817-15C>A c.14512-15C>A (n.14512-15C>A) c.14497-15C>A (n.14497-15C>A) c.14494-15C>A (n.14494-15C>A) c.14479-15C>A (n.14479-15C>A) c.14509-15C>A (n.14509-15C>A) c.14425-15C>A (n.14425-15C>A) | gnomAD v4 |
| 19 | g.38580355C= | CA2335092432 | RYR1 | c.1448-15C= c.2845-15C= c.2817-15C= c.14512-15C= (n.14512-15C=) c.14497-15C= (n.14497-15C=) c.14494-15C= (n.14494-15C=) c.14479-15C= (n.14479-15C=) c.14509-15C= (n.14509-15C=) c.14425-15C= (n.14425-15C=) | |
| 19 | g.38580355C>G | CA882064631 | RYR1 | c.1448-15C>G c.2845-15C>G c.2817-15C>G c.14512-15C>G (n.14512-15C>G) c.14497-15C>G (n.14497-15C>G) c.14494-15C>G (n.14494-15C>G) c.14479-15C>G (n.14479-15C>G) c.14509-15C>G (n.14509-15C>G) c.14425-15C>G (n.14425-15C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580355C>T | CA633066914 | RYR1 | c.1448-15C>T c.2845-15C>T c.2817-15C>T c.14512-15C>T (n.14512-15C>T) c.14497-15C>T (n.14497-15C>T) c.14494-15C>T (n.14494-15C>T) c.14479-15C>T (n.14479-15C>T) c.14509-15C>T (n.14509-15C>T) c.14425-15C>T (n.14425-15C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580356C>T | CA2584911166 | RYR1 | c.1448-14C>T c.2845-14C>T c.2817-14C>T c.14512-14C>T (n.14512-14C>T) c.14497-14C>T (n.14497-14C>T) c.14494-14C>T (n.14494-14C>T) c.14479-14C>T (n.14479-14C>T) c.14509-14C>T (n.14509-14C>T) c.14425-14C>T (n.14425-14C>T) | gnomAD v4 |
| 19 | g.38580357A= | CA2335092433 | RYR1 | c.1448-13A= c.2845-13A= c.2817-13A= c.14512-13A= (n.14512-13A=) c.14497-13A= (n.14497-13A=) c.14494-13A= (n.14494-13A=) c.14479-13A= (n.14479-13A=) c.14509-13A= (n.14509-13A=) c.14425-13A= (n.14425-13A=) | |
| 19 | g.38580357A>G | CA995740449 | RYR1 | c.1448-13A>G c.2845-13A>G c.2817-13A>G c.14512-13A>G (n.14512-13A>G) c.14497-13A>G (n.14497-13A>G) c.14494-13A>G (n.14494-13A>G) c.14479-13A>G (n.14479-13A>G) c.14509-13A>G (n.14509-13A>G) c.14425-13A>G (n.14425-13A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580359C= | CA2335092434 | RYR1 | c.1448-11C= c.2845-11C= c.2817-11C= c.14512-11C= (n.14512-11C=) c.14497-11C= (n.14497-11C=) c.14494-11C= (n.14494-11C=) c.14479-11C= (n.14479-11C=) c.14509-11C= (n.14509-11C=) c.14425-11C= (n.14425-11C=) | |
| 19 | g.38580359C>T | CA882064632 | RYR1 | c.1448-11C>T c.2845-11C>T c.2817-11C>T c.14512-11C>T (n.14512-11C>T) c.14497-11C>T (n.14497-11C>T) c.14494-11C>T (n.14494-11C>T) c.14479-11C>T (n.14479-11C>T) c.14509-11C>T (n.14509-11C>T) c.14425-11C>T (n.14425-11C>T) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38580360C= | CA2335092435 | RYR1 | c.1448-10C= c.2845-10C= c.2817-10C= c.14512-10C= (n.14512-10C=) c.14497-10C= (n.14497-10C=) c.14494-10C= (n.14494-10C=) c.14479-10C= (n.14479-10C=) c.14509-10C= (n.14509-10C=) c.14425-10C= (n.14425-10C=) | |
| 19 | g.38580360C>G | CA882064635 | RYR1 | c.1448-10C>G c.2845-10C>G c.2817-10C>G c.14512-10C>G (n.14512-10C>G) c.14497-10C>G (n.14497-10C>G) c.14494-10C>G (n.14494-10C>G) c.14479-10C>G (n.14479-10C>G) c.14509-10C>G (n.14509-10C>G) c.14425-10C>G (n.14425-10C>G) | dbSNP |
| 19 | g.38580360C>T | CA061353 | RYR1 | c.1448-10C>T c.2845-10C>T c.2817-10C>T c.14512-10C>T (n.14512-10C>T) c.14497-10C>T (n.14497-10C>T) c.14494-10C>T (n.14494-10C>T) c.14479-10C>T (n.14479-10C>T) c.14509-10C>T (n.14509-10C>T) c.14425-10C>T (n.14425-10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580362G>A | CA061372 | RYR1 | c.1448-8G>A c.2845-8G>A c.2817-8G>A c.14512-8G>A (n.14512-8G>A) c.14497-8G>A (n.14497-8G>A) c.14494-8G>A (n.14494-8G>A) c.14479-8G>A (n.14479-8G>A) c.14509-8G>A (n.14509-8G>A) c.14425-8G>A (n.14425-8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580362G= | CA2335092436 | RYR1 | c.1448-8G= c.2845-8G= c.2817-8G= c.14512-8G= (n.14512-8G=) c.14497-8G= (n.14497-8G=) c.14494-8G= (n.14494-8G=) c.14479-8G= (n.14479-8G=) c.14509-8G= (n.14509-8G=) c.14425-8G= (n.14425-8G=) | |
| 19 | g.38580362G>T | CA2335092437 | RYR1 | c.1448-8G>T c.2845-8G>T c.2817-8G>T c.14512-8G>T (n.14512-8G>T) c.14497-8G>T (n.14497-8G>T) c.14494-8G>T (n.14494-8G>T) c.14479-8G>T (n.14479-8G>T) c.14509-8G>T (n.14509-8G>T) c.14425-8G>T (n.14425-8G>T) | ClinVar dbSNP |
| 19 | g.38580363C>T | CA081246 | RYR1 | c.1448-7C>T c.2845-7C>T c.2817-7C>T c.14512-7C>T (n.14512-7C>T) c.14497-7C>T (n.14497-7C>T) c.14494-7C>T (n.14494-7C>T) c.14479-7C>T (n.14479-7C>T) c.14509-7C>T (n.14509-7C>T) c.14425-7C>T (n.14425-7C>T) | gnomAD v4 |
| 19 | g.38580365C= | CA2335092438 | RYR1 | c.1448-5C= c.2845-5C= c.2817-5C= c.14512-5C= (n.14512-5C=) c.14497-5C= (n.14497-5C=) c.14494-5C= (n.14494-5C=) c.14479-5C= (n.14479-5C=) c.14509-5C= (n.14509-5C=) c.14425-5C= (n.14425-5C=) | |
| 19 | g.38580365C>T | CA308121905 | RYR1 | c.1448-5C>T c.2845-5C>T c.2817-5C>T c.14512-5C>T (n.14512-5C>T) c.14497-5C>T (n.14497-5C>T) c.14494-5C>T (n.14494-5C>T) c.14479-5C>T (n.14479-5C>T) c.14509-5C>T (n.14509-5C>T) c.14425-5C>T (n.14425-5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580367C>A | CA2584911170 | RYR1 | c.1448-3C>A c.2845-3C>A c.2817-3C>A c.14512-3C>A (n.14512-3C>A) c.14497-3C>A (n.14497-3C>A) c.14494-3C>A (n.14494-3C>A) c.14479-3C>A (n.14479-3C>A) c.14509-3C>A (n.14509-3C>A) c.14425-3C>A (n.14425-3C>A) | gnomAD v4 |
| 19 | g.38580368A>C | CA405687532 | RYR1 | c.1448-2A>C c.2845-2A>C c.2817-2A>C c.14512-2A>C (n.14512-2A>C) c.14497-2A>C (n.14497-2A>C) c.14494-2A>C (n.14494-2A>C) c.14479-2A>C (n.14479-2A>C) c.14509-2A>C (n.14509-2A>C) c.14425-2A>C (n.14425-2A>C) | |
| 19 | g.38580368A>G | CA405687536 | RYR1 | c.1448-2A>G c.2845-2A>G c.2817-2A>G c.14512-2A>G (n.14512-2A>G) c.14497-2A>G (n.14497-2A>G) c.14494-2A>G (n.14494-2A>G) c.14479-2A>G (n.14479-2A>G) c.14509-2A>G (n.14509-2A>G) c.14425-2A>G (n.14425-2A>G) | |
| 19 | g.38580368A>T | CA405687539 | RYR1 | c.1448-2A>T c.2845-2A>T c.2817-2A>T c.14512-2A>T (n.14512-2A>T) c.14497-2A>T (n.14497-2A>T) c.14494-2A>T (n.14494-2A>T) c.14479-2A>T (n.14479-2A>T) c.14509-2A>T (n.14509-2A>T) c.14425-2A>T (n.14425-2A>T) | |
| 19 | g.38580369G>A | CA113770 | RYR1 | c.1448-1G>A c.2845-1G>A c.2817-1G>A c.14512-1G>A (n.14512-1G>A) c.14497-1G>A (n.14497-1G>A) c.14494-1G>A (n.14494-1G>A) c.14479-1G>A (n.14479-1G>A) c.14509-1G>A (n.14509-1G>A) c.14425-1G>A (n.14425-1G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580369G>C | CA405687542 | RYR1 | c.1448-1G>C c.2845-1G>C c.2817-1G>C c.14512-1G>C (n.14512-1G>C) c.14497-1G>C (n.14497-1G>C) c.14494-1G>C (n.14494-1G>C) c.14479-1G>C (n.14479-1G>C) c.14509-1G>C (n.14509-1G>C) c.14425-1G>C (n.14425-1G>C) | |
| 19 | g.38580369G= | CA2335092439 | RYR1 | c.1448-1G= c.2845-1G= c.2817-1G= c.14512-1G= (n.14512-1G=) c.14497-1G= (n.14497-1G=) c.14494-1G= (n.14494-1G=) c.14479-1G= (n.14479-1G=) c.14509-1G= (n.14509-1G=) c.14425-1G= (n.14425-1G=) | |
| 19 | g.38580369G>T | CA405687544 | RYR1 | c.1448-1G>T c.2845-1G>T c.2817-1G>T c.14512-1G>T (n.14512-1G>T) c.14497-1G>T (n.14497-1G>T) c.14494-1G>T (n.14494-1G>T) c.14479-1G>T (n.14479-1G>T) c.14509-1G>T (n.14509-1G>T) c.14425-1G>T (n.14425-1G>T) | |
| 19 | g.38580370C>A | CA405687546 | RYR1 | c.1448C>A c.2845C>A c.2817C>A c.14512C>A (p.Leu4838Met) c.14497C>A (p.Leu4833Met) c.14494C>A (p.Leu4832Met) c.14479C>A (p.Leu4827Met) c.14509C>A (p.Leu4837Met) c.14425C>A (p.Leu4809Met) | |
| 19 | g.38580370C= | CA2335092440 | RYR1 | c.1448C= c.2845C= c.2817C= c.14512C= (p.Leu4838=) c.14497C= (p.Leu4833=) c.14494C= (p.Leu4832=) c.14479C= (p.Leu4827=) c.14509C= (p.Leu4837=) c.14425C= (p.Leu4809=) | |
| 19 | g.38580370C>G | CA024163 | RYR1 | c.1448C>G c.2845C>G c.2817C>G c.14512C>G (p.Leu4838Val) c.14497C>G (p.Leu4833Val) c.14494C>G (p.Leu4832Val) c.14479C>G (p.Leu4827Val) c.14509C>G (p.Leu4837Val) c.14425C>G (p.Leu4809Val) | ClinVar dbSNP |
| 19 | g.38580370C>T | CA507356005 | RYR1 | c.1448C>T c.2845C>T c.2817C>T c.14512C>T (p.Leu4838=) c.14497C>T (p.Leu4833=) c.14494C>T (p.Leu4832=) c.14479C>T (p.Leu4827=) c.14509C>T (p.Leu4837=) c.14425C>T (p.Leu4809=) | |
| 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.38580383dup | CA2814346365 | RYR1 | c.1461dup c.2858dup c.2830dup c.14525dup (p.Leu4844ProfsTer27) c.14510dup (p.Leu4839ProfsTer27) c.14507dup (p.Leu4838ProfsTer27) c.14492dup (p.Leu4833ProfsTer27) c.14522dup (p.Leu4843ProfsTer27) c.14438dup (p.Leu4815ProfsTer27) | |
| 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=) | |
| 19 | g.38580390T>G | CA507356041 | RYR1 | c.1468T>G c.2865T>G c.2837T>G c.14532T>G (p.Leu4844=) c.14517T>G (p.Leu4839=) c.14514T>G (p.Leu4838=) c.14499T>G (p.Leu4833=) c.14529T>G (p.Leu4843=) c.14445T>G (p.Leu4815=) | |
| 19 | g.38580391C>A | CA405687617 | RYR1 | c.1469C>A c.2866C>A c.2838C>A c.14533C>A (p.Leu4845Met) c.14518C>A (p.Leu4840Met) c.14515C>A (p.Leu4839Met) c.14500C>A (p.Leu4834Met) c.14530C>A (p.Leu4844Met) c.14446C>A (p.Leu4816Met) | ClinVar dbSNP |
| 19 | g.38580391C>G | CA405687619 | RYR1 | c.1469C>G c.2866C>G c.2838C>G c.14533C>G (p.Leu4845Val) c.14518C>G (p.Leu4840Val) c.14515C>G (p.Leu4839Val) c.14500C>G (p.Leu4834Val) c.14530C>G (p.Leu4844Val) c.14446C>G (p.Leu4816Val) | |
| 19 | g.38580391C>T | CA507356047 | RYR1 | c.1469C>T c.2866C>T c.2838C>T c.14533C>T (p.Leu4845=) c.14518C>T (p.Leu4840=) c.14515C>T (p.Leu4839=) c.14500C>T (p.Leu4834=) c.14530C>T (p.Leu4844=) c.14446C>T (p.Leu4816=) | |
| 19 | g.38580392T>A | CA405687621 | RYR1 | c.1470T>A c.2867T>A c.2839T>A c.14534T>A (p.Leu4845Gln) c.14519T>A (p.Leu4840Gln) c.14516T>A (p.Leu4839Gln) c.14501T>A (p.Leu4834Gln) c.14531T>A (p.Leu4844Gln) c.14447T>A (p.Leu4816Gln) | |
| 19 | g.38580392T>C | CA405687623 | RYR1 | c.1470T>C c.2867T>C c.2839T>C c.14534T>C (p.Leu4845Pro) c.14519T>C (p.Leu4840Pro) c.14516T>C (p.Leu4839Pro) c.14501T>C (p.Leu4834Pro) c.14531T>C (p.Leu4844Pro) c.14447T>C (p.Leu4816Pro) | |
| 19 | g.38580392T>G | CA405687624 | RYR1 | c.1470T>G c.2867T>G c.2839T>G c.14534T>G (p.Leu4845Arg) c.14519T>G (p.Leu4840Arg) c.14516T>G (p.Leu4839Arg) c.14501T>G (p.Leu4834Arg) c.14531T>G (p.Leu4844Arg) c.14447T>G (p.Leu4816Arg) | |
| 19 | g.38580393G>A | CA507356048 | RYR1 | c.1471G>A c.2868G>A c.2840G>A c.14535G>A (p.Leu4845=) c.14520G>A (p.Leu4840=) c.14517G>A (p.Leu4839=) c.14502G>A (p.Leu4834=) c.14532G>A (p.Leu4844=) c.14448G>A (p.Leu4816=) | gnomAD v4 |
| 19 | g.38580393G>C | CA308121927 | RYR1 | c.1471G>C c.2868G>C c.2840G>C c.14535G>C (p.Leu4845=) c.14520G>C (p.Leu4840=) c.14517G>C (p.Leu4839=) c.14502G>C (p.Leu4834=) c.14532G>C (p.Leu4844=) c.14448G>C (p.Leu4816=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580393G= | CA2335092451 | RYR1 | c.1471G= c.2868G= c.2840G= c.14535G= (p.Leu4845=) c.14520G= (p.Leu4840=) c.14517G= (p.Leu4839=) c.14502G= (p.Leu4834=) c.14532G= (p.Leu4844=) c.14448G= (p.Leu4816=) | |
| 19 | g.38580393G>T | CA507356052 | RYR1 | c.1471G>T c.2868G>T c.2840G>T c.14535G>T (p.Leu4845=) c.14520G>T (p.Leu4840=) c.14517G>T (p.Leu4839=) c.14502G>T (p.Leu4834=) c.14532G>T (p.Leu4844=) c.14448G>T (p.Leu4816=) | |
| 19 | g.38580394G>A | CA405687627 | RYR1 | c.1472G>A c.2869G>A c.2841G>A c.14536G>A (p.Ala4846Thr) c.14521G>A (p.Ala4841Thr) c.14518G>A (p.Ala4840Thr) c.14503G>A (p.Ala4835Thr) c.14533G>A (p.Ala4845Thr) c.14449G>A (p.Ala4817Thr) | |
| 19 | g.38580394G>C | CA405687629 | RYR1 | c.1472G>C c.2869G>C c.2841G>C c.14536G>C (p.Ala4846Pro) c.14521G>C (p.Ala4841Pro) c.14518G>C (p.Ala4840Pro) c.14503G>C (p.Ala4835Pro) c.14533G>C (p.Ala4845Pro) c.14449G>C (p.Ala4817Pro) | ClinVar dbSNP |
| 19 | g.38580394G= | CA2335092452 | RYR1 | c.1472G= c.2869G= c.2841G= c.14536G= (p.Ala4846=) c.14521G= (p.Ala4841=) c.14518G= (p.Ala4840=) c.14503G= (p.Ala4835=) c.14533G= (p.Ala4845=) c.14449G= (p.Ala4817=) | |
| 19 | g.38580394G>T | CA405687625 | RYR1 | c.1472G>T c.2869G>T c.2841G>T c.14536G>T (p.Ala4846Ser) c.14521G>T (p.Ala4841Ser) c.14518G>T (p.Ala4840Ser) c.14503G>T (p.Ala4835Ser) c.14533G>T (p.Ala4845Ser) c.14449G>T (p.Ala4817Ser) | |
| 19 | g.38580395C>A | CA405687631 | RYR1 | c.1473C>A c.2870C>A c.2842C>A c.14537C>A (p.Ala4846Glu) c.14522C>A (p.Ala4841Glu) c.14519C>A (p.Ala4840Glu) c.14504C>A (p.Ala4835Glu) c.14534C>A (p.Ala4845Glu) c.14450C>A (p.Ala4817Glu) | |
| 19 | g.38580395C= | CA2335092453 | RYR1 | c.1473C= c.2870C= c.2842C= c.14537C= (p.Ala4846=) c.14522C= (p.Ala4841=) c.14519C= (p.Ala4840=) c.14504C= (p.Ala4835=) c.14534C= (p.Ala4845=) c.14450C= (p.Ala4817=) | |
| 19 | g.38580395C>G | CA061378 | RYR1 | c.1473C>G c.2870C>G c.2842C>G c.14537C>G (p.Ala4846Gly) c.14522C>G (p.Ala4841Gly) c.14519C>G (p.Ala4840Gly) c.14504C>G (p.Ala4835Gly) c.14534C>G (p.Ala4845Gly) c.14450C>G (p.Ala4817Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580395C>T | CA024167 | RYR1 | c.1473C>T c.2870C>T c.2842C>T c.14537C>T (p.Ala4846Val) c.14522C>T (p.Ala4841Val) c.14519C>T (p.Ala4840Val) c.14504C>T (p.Ala4835Val) c.14534C>T (p.Ala4845Val) c.14450C>T (p.Ala4817Val) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38580395_38580398delinsCGGT | CA2335092454 | RYR1 | c.1473_1476delinsCGGT c.2870_2873delinsCGGT c.2842_2845delinsCGGT c.14537_14540delinsCGGT (p.Ala4846=) c.14522_14525delinsCGGT (p.Ala4841=) c.14519_14522delinsCGGT (p.Ala4840=) c.14504_14507delinsCGGT (p.Ala4835=) c.14534_14537delinsCGGT (p.Ala4845=) c.14450_14453delinsCGGT (p.Ala4817=) | |
| 19 | g.38580396G>A | CA308121949 | RYR1 | c.1474G>A c.2871G>A c.2843G>A c.14538G>A (p.Ala4846=) c.14523G>A (p.Ala4841=) c.14520G>A (p.Ala4840=) c.14505G>A (p.Ala4835=) c.14535G>A (p.Ala4845=) c.14451G>A (p.Ala4817=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580396G>C | CA061382 | RYR1 | c.1474G>C c.2871G>C c.2843G>C c.14538G>C (p.Ala4846=) c.14523G>C (p.Ala4841=) c.14520G>C (p.Ala4840=) c.14505G>C (p.Ala4835=) c.14535G>C (p.Ala4845=) c.14451G>C (p.Ala4817=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580396G= | CA2335092455 | RYR1 | c.1474G= c.2871G= c.2843G= c.14538G= (p.Ala4846=) c.14523G= (p.Ala4841=) c.14520G= (p.Ala4840=) c.14505G= (p.Ala4835=) c.14535G= (p.Ala4845=) c.14451G= (p.Ala4817=) | |
| 19 | g.38580396G>T | CA507356055 | RYR1 | c.1474G>T c.2871G>T c.2843G>T c.14538G>T (p.Ala4846=) c.14523G>T (p.Ala4841=) c.14520G>T (p.Ala4840=) c.14505G>T (p.Ala4835=) c.14535G>T (p.Ala4845=) c.14451G>T (p.Ala4817=) | |
| 19 | g.38580399_38580401del | CA658799201 | RYR1 | c.1477_1479del c.2874_2876del c.2846_2848del c.14541_14543del (p.Val4848del) c.14526_14528del (p.Val4843del) c.14523_14525del (p.Val4842del) c.14508_14510del (p.Val4837del) c.14538_14540del (p.Val4847del) c.14454_14456del (p.Val4819del) | ClinVar dbSNP |
| 19 | g.38580397G>A | CA405687636 | RYR1 | c.1475G>A c.2872G>A c.2844G>A c.14539G>A (p.Val4847Met) c.14524G>A (p.Val4842Met) c.14521G>A (p.Val4841Met) c.14506G>A (p.Val4836Met) c.14536G>A (p.Val4846Met) c.14452G>A (p.Val4818Met) | |
| 19 | g.38580397G>C | CA405687638 | RYR1 | c.1475G>C c.2872G>C c.2844G>C c.14539G>C (p.Val4847Leu) c.14524G>C (p.Val4842Leu) c.14521G>C (p.Val4841Leu) c.14506G>C (p.Val4836Leu) c.14536G>C (p.Val4846Leu) c.14452G>C (p.Val4818Leu) | ClinVar dbSNP |
| 19 | g.38580397G= | CA2335092456 | RYR1 | c.1475G= c.2872G= c.2844G= c.14539G= (p.Val4847=) c.14524G= (p.Val4842=) c.14521G= (p.Val4841=) c.14506G= (p.Val4836=) c.14536G= (p.Val4846=) c.14452G= (p.Val4818=) | |
| 19 | g.38580397G>T | CA405687639 | RYR1 | c.1475G>T c.2872G>T c.2844G>T c.14539G>T (p.Val4847Leu) c.14524G>T (p.Val4842Leu) c.14521G>T (p.Val4841Leu) c.14506G>T (p.Val4836Leu) c.14536G>T (p.Val4846Leu) c.14452G>T (p.Val4818Leu) | |
| 19 | g.38580398T>A | CA405687641 | RYR1 | c.1476T>A c.2873T>A c.2845T>A c.14540T>A (p.Val4847Glu) c.14525T>A (p.Val4842Glu) c.14522T>A (p.Val4841Glu) c.14507T>A (p.Val4836Glu) c.14537T>A (p.Val4846Glu) c.14453T>A (p.Val4818Glu) | |
| 19 | g.38580398T>C | CA405687644 | RYR1 | c.1476T>C c.2873T>C c.2845T>C c.14540T>C (p.Val4847Ala) c.14525T>C (p.Val4842Ala) c.14522T>C (p.Val4841Ala) c.14507T>C (p.Val4836Ala) c.14537T>C (p.Val4846Ala) c.14453T>C (p.Val4818Ala) | |
| 19 | g.38580398T>G | CA405687646 | RYR1 | c.1476T>G c.2873T>G c.2845T>G c.14540T>G (p.Val4847Gly) c.14525T>G (p.Val4842Gly) c.14522T>G (p.Val4841Gly) c.14507T>G (p.Val4836Gly) c.14537T>G (p.Val4846Gly) c.14453T>G (p.Val4818Gly) | |
| 19 | g.38580399G>A | CA507356063 | RYR1 | c.1477G>A c.2874G>A c.2846G>A c.14541G>A (p.Val4847=) c.14526G>A (p.Val4842=) c.14523G>A (p.Val4841=) c.14508G>A (p.Val4836=) c.14538G>A (p.Val4846=) c.14454G>A (p.Val4818=) | |
| 19 | g.38580399G>C | CA081258 | RYR1 | c.1477G>C c.2874G>C c.2846G>C c.14541G>C (p.Val4847=) c.14526G>C (p.Val4842=) c.14523G>C (p.Val4841=) c.14508G>C (p.Val4836=) c.14538G>C (p.Val4846=) c.14454G>C (p.Val4818=) | |
| 19 | g.38580399G>T | CA507356064 | RYR1 | c.1477G>T c.2874G>T c.2846G>T c.14541G>T (p.Val4847=) c.14526G>T (p.Val4842=) c.14523G>T (p.Val4841=) c.14508G>T (p.Val4836=) c.14538G>T (p.Val4846=) c.14454G>T (p.Val4818=) | |
| 19 | g.38580400G>A | CA405687649 | RYR1 | c.1478G>A c.2875G>A c.2847G>A c.14542G>A (p.Val4848Ile) c.14527G>A (p.Val4843Ile) c.14524G>A (p.Val4842Ile) c.14509G>A (p.Val4837Ile) c.14539G>A (p.Val4847Ile) c.14455G>A (p.Val4819Ile) | |
| 19 | g.38580400G>C | CA405687650 | RYR1 | c.1478G>C c.2875G>C c.2847G>C c.14542G>C (p.Val4848Leu) c.14527G>C (p.Val4843Leu) c.14524G>C (p.Val4842Leu) c.14509G>C (p.Val4837Leu) c.14539G>C (p.Val4847Leu) c.14455G>C (p.Val4819Leu) | ClinVar dbSNP |
| 19 | g.38580400G= | CA2335092457 | RYR1 | c.1478G= c.2875G= c.2847G= c.14542G= (p.Val4848=) c.14527G= (p.Val4843=) c.14524G= (p.Val4842=) c.14509G= (p.Val4837=) c.14539G= (p.Val4847=) c.14455G= (p.Val4819=) | |
| 19 | g.38580400G>T | CA405687651 | RYR1 | c.1478G>T c.2875G>T c.2847G>T c.14542G>T (p.Val4848Phe) c.14527G>T (p.Val4843Phe) c.14524G>T (p.Val4842Phe) c.14509G>T (p.Val4837Phe) c.14539G>T (p.Val4847Phe) c.14455G>T (p.Val4819Phe) | |
| 19 | g.38580401T>A | CA405687655 | RYR1 | c.1479T>A c.2876T>A c.2848T>A c.14543T>A (p.Val4848Asp) c.14528T>A (p.Val4843Asp) c.14525T>A (p.Val4842Asp) c.14510T>A (p.Val4837Asp) c.14540T>A (p.Val4847Asp) c.14456T>A (p.Val4819Asp) | |
| 19 | g.38580401T>C | CA405687653 | RYR1 | c.1479T>C c.2876T>C c.2848T>C c.14543T>C (p.Val4848Ala) c.14528T>C (p.Val4843Ala) c.14525T>C (p.Val4842Ala) c.14510T>C (p.Val4837Ala) c.14540T>C (p.Val4847Ala) c.14456T>C (p.Val4819Ala) | |
| 19 | g.38580401T>G | CA405687654 | RYR1 | c.1479T>G c.2876T>G c.2848T>G c.14543T>G (p.Val4848Gly) c.14528T>G (p.Val4843Gly) c.14525T>G (p.Val4842Gly) c.14510T>G (p.Val4837Gly) c.14540T>G (p.Val4847Gly) c.14456T>G (p.Val4819Gly) | dbSNP |
| 19 | g.38580401T= | CA2335092458 | RYR1 | c.1479T= c.2876T= c.2848T= c.14543T= (p.Val4848=) c.14528T= (p.Val4843=) c.14525T= (p.Val4842=) c.14510T= (p.Val4837=) c.14540T= (p.Val4847=) c.14456T= (p.Val4819=) | |
| 19 | g.38580403_38580429dup | CA891863041 | RYR1 | c.1481_1507dup c.2878_2904dup c.2850_2876dup c.14545_14571dup (p.Phe4857_Asn4858insValTyrLeuTyrThrValValAlaPhe) c.14530_14556dup (p.Phe4852_Asn4853insValTyrLeuTyrThrValValAlaPhe) c.14527_14553dup (p.Phe4851_Asn4852insValTyrLeuTyrThrValValAlaPhe) c.14512_14538dup (p.Phe4846_Asn4847insValTyrLeuTyrThrValValAlaPhe) c.14542_14568dup (p.Phe4856_Asn4857insValTyrLeuTyrThrValValAlaPhe) c.14458_14484dup (p.Phe4828_Asn4829insValTyrLeuTyrThrValValAlaPhe) | ClinVar dbSNP |
| 19 | g.38580402C>A | CA507356069 | RYR1 | c.1480C>A c.2877C>A c.2849C>A c.14544C>A (p.Val4848=) c.14529C>A (p.Val4843=) c.14526C>A (p.Val4842=) c.14511C>A (p.Val4837=) c.14541C>A (p.Val4847=) c.14457C>A (p.Val4819=) | |
| 19 | g.38580402C= | CA2335092459 | RYR1 | c.1480C= c.2877C= c.2849C= c.14544C= (p.Val4848=) c.14529C= (p.Val4843=) c.14526C= (p.Val4842=) c.14511C= (p.Val4837=) c.14541C= (p.Val4847=) c.14457C= (p.Val4819=) | |
| 19 | g.38580402C>G | CA507356070 | RYR1 | c.1480C>G c.2877C>G c.2849C>G c.14544C>G (p.Val4848=) c.14529C>G (p.Val4843=) c.14526C>G (p.Val4842=) c.14511C>G (p.Val4837=) c.14541C>G (p.Val4847=) c.14457C>G (p.Val4819=) | dbSNP |
| 19 | g.38580402C>T | CA507356071 | RYR1 | c.1480C>T c.2877C>T c.2849C>T c.14544C>T (p.Val4848=) c.14529C>T (p.Val4843=) c.14526C>T (p.Val4842=) c.14511C>T (p.Val4837=) c.14541C>T (p.Val4847=) c.14457C>T (p.Val4819=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580403G>A | CA024171 | RYR1 | c.1481G>A c.2878G>A c.2850G>A c.14545G>A (p.Val4849Ile) c.14530G>A (p.Val4844Ile) c.14527G>A (p.Val4843Ile) c.14512G>A (p.Val4838Ile) c.14542G>A (p.Val4848Ile) c.14458G>A (p.Val4820Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580403G>C | CA405687656 | RYR1 | c.1481G>C c.2878G>C c.2850G>C c.14545G>C (p.Val4849Leu) c.14530G>C (p.Val4844Leu) c.14527G>C (p.Val4843Leu) c.14512G>C (p.Val4838Leu) c.14542G>C (p.Val4848Leu) c.14458G>C (p.Val4820Leu) | |
| 19 | g.38580403G= | CA2335092460 | RYR1 | c.1481G= c.2878G= c.2850G= c.14545G= (p.Val4849=) c.14530G= (p.Val4844=) c.14527G= (p.Val4843=) c.14512G= (p.Val4838=) c.14542G= (p.Val4848=) c.14458G= (p.Val4820=) | |
| 19 | g.38580403G>T | CA405687657 | RYR1 | c.1481G>T c.2878G>T c.2850G>T c.14545G>T (p.Val4849Phe) c.14530G>T (p.Val4844Phe) c.14527G>T (p.Val4843Phe) c.14512G>T (p.Val4838Phe) c.14542G>T (p.Val4848Phe) c.14458G>T (p.Val4820Phe) | ClinVar dbSNP COSMIC |
| 19 | g.38580404T>A | CA405687658 | RYR1 | c.1482T>A c.2879T>A c.2851T>A c.14546T>A (p.Val4849Asp) c.14531T>A (p.Val4844Asp) c.14528T>A (p.Val4843Asp) c.14513T>A (p.Val4838Asp) c.14543T>A (p.Val4848Asp) c.14459T>A (p.Val4820Asp) | |
| 19 | g.38580404T>C | CA405687659 | RYR1 | c.1482T>C c.2879T>C c.2851T>C c.14546T>C (p.Val4849Ala) c.14531T>C (p.Val4844Ala) c.14528T>C (p.Val4843Ala) c.14513T>C (p.Val4838Ala) c.14543T>C (p.Val4848Ala) c.14459T>C (p.Val4820Ala) | |
| 19 | g.38580404T>G | CA405687660 | RYR1 | c.1482T>G c.2879T>G c.2851T>G c.14546T>G (p.Val4849Gly) c.14531T>G (p.Val4844Gly) c.14528T>G (p.Val4843Gly) c.14513T>G (p.Val4838Gly) c.14543T>G (p.Val4848Gly) c.14459T>G (p.Val4820Gly) | |
| 19 | g.38580405C>A | CA507356077 | RYR1 | c.1483C>A c.2880C>A c.2852C>A c.14547C>A (p.Val4849=) c.14532C>A (p.Val4844=) c.14529C>A (p.Val4843=) c.14514C>A (p.Val4838=) c.14544C>A (p.Val4848=) c.14460C>A (p.Val4820=) | |
| 19 | g.38580405C>G | CA507356080 | RYR1 | c.1483C>G c.2880C>G c.2852C>G c.14547C>G (p.Val4849=) c.14532C>G (p.Val4844=) c.14529C>G (p.Val4843=) c.14514C>G (p.Val4838=) c.14544C>G (p.Val4848=) c.14460C>G (p.Val4820=) | |
| 19 | g.38580405C>T | CA507356082 | RYR1 | c.1483C>T c.2880C>T c.2852C>T c.14547C>T (p.Val4849=) c.14532C>T (p.Val4844=) c.14529C>T (p.Val4843=) c.14514C>T (p.Val4838=) c.14544C>T (p.Val4848=) c.14460C>T (p.Val4820=) | |
| 19 | g.38580406T>A | CA405687662 | RYR1 | c.1484T>A c.2881T>A c.2853T>A c.14548T>A (p.Tyr4850Asn) c.14533T>A (p.Tyr4845Asn) c.14530T>A (p.Tyr4844Asn) c.14515T>A (p.Tyr4839Asn) c.14545T>A (p.Tyr4849Asn) c.14461T>A (p.Tyr4821Asn) | |
| 19 | g.38580406T>C | CA405687664 | RYR1 | c.1484T>C c.2881T>C c.2853T>C c.14548T>C (p.Tyr4850His) c.14533T>C (p.Tyr4845His) c.14530T>C (p.Tyr4844His) c.14515T>C (p.Tyr4839His) c.14545T>C (p.Tyr4849His) c.14461T>C (p.Tyr4821His) | ClinVar dbSNP |
| 19 | g.38580406T>G | CA405687666 | RYR1 | c.1484T>G c.2881T>G c.2853T>G c.14548T>G (p.Tyr4850Asp) c.14533T>G (p.Tyr4845Asp) c.14530T>G (p.Tyr4844Asp) c.14515T>G (p.Tyr4839Asp) c.14545T>G (p.Tyr4849Asp) c.14461T>G (p.Tyr4821Asp) | |
| 19 | g.38580407A= | CA2335092461 | RYR1 | c.1485A= c.2882A= c.2854A= c.14549A= (p.Tyr4850=) c.14534A= (p.Tyr4845=) c.14531A= (p.Tyr4844=) c.14516A= (p.Tyr4839=) c.14546A= (p.Tyr4849=) c.14462A= (p.Tyr4821=) | |
| 19 | g.38580407A>C | CA405687668 | RYR1 | c.1485A>C c.2882A>C c.2854A>C c.14549A>C (p.Tyr4850Ser) c.14534A>C (p.Tyr4845Ser) c.14531A>C (p.Tyr4844Ser) c.14516A>C (p.Tyr4839Ser) c.14546A>C (p.Tyr4849Ser) c.14462A>C (p.Tyr4821Ser) | |
| 19 | g.38580407A>G | CA405687669 | RYR1 | c.1485A>G c.2882A>G c.2854A>G c.14549A>G (p.Tyr4850Cys) c.14534A>G (p.Tyr4845Cys) c.14531A>G (p.Tyr4844Cys) c.14516A>G (p.Tyr4839Cys) c.14546A>G (p.Tyr4849Cys) c.14462A>G (p.Tyr4821Cys) | dbSNP |
| 19 | g.38580407A>T | CA405687670 | RYR1 | c.1485A>T c.2882A>T c.2854A>T c.14549A>T (p.Tyr4850Phe) c.14534A>T (p.Tyr4845Phe) c.14531A>T (p.Tyr4844Phe) c.14516A>T (p.Tyr4839Phe) c.14546A>T (p.Tyr4849Phe) c.14462A>T (p.Tyr4821Phe) | |
| 19 | g.38580408C>A | CA405687671 | RYR1 | c.1486C>A c.2883C>A c.2855C>A c.14550C>A (p.Tyr4850Ter) c.14535C>A (p.Tyr4845Ter) c.14532C>A (p.Tyr4844Ter) c.14517C>A (p.Tyr4839Ter) c.14547C>A (p.Tyr4849Ter) c.14463C>A (p.Tyr4821Ter) | |
| 19 | g.38580408C>G | CA405687672 | RYR1 | c.1486C>G c.2883C>G c.2855C>G c.14550C>G (p.Tyr4850Ter) c.14535C>G (p.Tyr4845Ter) c.14532C>G (p.Tyr4844Ter) c.14517C>G (p.Tyr4839Ter) c.14547C>G (p.Tyr4849Ter) c.14463C>G (p.Tyr4821Ter) | |
| 19 | g.38580408C>T | CA507356087 | RYR1 | c.1486C>T c.2883C>T c.2855C>T c.14550C>T (p.Tyr4850=) c.14535C>T (p.Tyr4845=) c.14532C>T (p.Tyr4844=) c.14517C>T (p.Tyr4839=) c.14547C>T (p.Tyr4849=) c.14463C>T (p.Tyr4821=) | |
| 19 | g.38580409C>A | CA405687673 | RYR1 | c.1487C>A c.2884C>A c.2856C>A c.14551C>A (p.Leu4851Met) c.14536C>A (p.Leu4846Met) c.14533C>A (p.Leu4845Met) c.14518C>A (p.Leu4840Met) c.14548C>A (p.Leu4850Met) c.14464C>A (p.Leu4822Met) | |
| 19 | g.38580409C>G | CA405687674 | RYR1 | c.1487C>G c.2884C>G c.2856C>G c.14551C>G (p.Leu4851Val) c.14536C>G (p.Leu4846Val) c.14533C>G (p.Leu4845Val) c.14518C>G (p.Leu4840Val) c.14548C>G (p.Leu4850Val) c.14464C>G (p.Leu4822Val) | |
| 19 | g.38580409C>T | CA507356088 | RYR1 | c.1487C>T c.2884C>T c.2856C>T c.14551C>T (p.Leu4851=) c.14536C>T (p.Leu4846=) c.14533C>T (p.Leu4845=) c.14518C>T (p.Leu4840=) c.14548C>T (p.Leu4850=) c.14464C>T (p.Leu4822=) | |
| 19 | g.38580410T>A | CA405687675 | RYR1 | c.1488T>A c.2885T>A c.2857T>A c.14552T>A (p.Leu4851Gln) c.14537T>A (p.Leu4846Gln) c.14534T>A (p.Leu4845Gln) c.14519T>A (p.Leu4840Gln) c.14549T>A (p.Leu4850Gln) c.14465T>A (p.Leu4822Gln) | |
| 19 | g.38580410T>C | CA405687678 | RYR1 | c.1488T>C c.2885T>C c.2857T>C c.14552T>C (p.Leu4851Pro) c.14537T>C (p.Leu4846Pro) c.14534T>C (p.Leu4845Pro) c.14519T>C (p.Leu4840Pro) c.14549T>C (p.Leu4850Pro) c.14465T>C (p.Leu4822Pro) | ClinVar dbSNP |
| 19 | g.38580410T>G | CA405687676 | RYR1 | c.1488T>G c.2885T>G c.2857T>G c.14552T>G (p.Leu4851Arg) c.14537T>G (p.Leu4846Arg) c.14534T>G (p.Leu4845Arg) c.14519T>G (p.Leu4840Arg) c.14549T>G (p.Leu4850Arg) c.14465T>G (p.Leu4822Arg) | dbSNP |
| 19 | g.38580410T= | CA2335092462 | RYR1 | c.1488T= c.2885T= c.2857T= c.14552T= (p.Leu4851=) c.14537T= (p.Leu4846=) c.14534T= (p.Leu4845=) c.14519T= (p.Leu4840=) c.14549T= (p.Leu4850=) c.14465T= (p.Leu4822=) | |
| 19 | g.38580411G>A | CA507356095 | RYR1 | c.1489G>A c.2886G>A c.2858G>A c.14553G>A (p.Leu4851=) c.14538G>A (p.Leu4846=) c.14535G>A (p.Leu4845=) c.14520G>A (p.Leu4840=) c.14550G>A (p.Leu4850=) c.14466G>A (p.Leu4822=) | ClinVar dbSNP |
| 19 | g.38580411G>C | CA507356097 | RYR1 | c.1489G>C c.2886G>C c.2858G>C c.14553G>C (p.Leu4851=) c.14538G>C (p.Leu4846=) c.14535G>C (p.Leu4845=) c.14520G>C (p.Leu4840=) c.14550G>C (p.Leu4850=) c.14466G>C (p.Leu4822=) | |
| 19 | g.38580411G>T | CA507356098 | RYR1 | c.1489G>T c.2886G>T c.2858G>T c.14553G>T (p.Leu4851=) c.14538G>T (p.Leu4846=) c.14535G>T (p.Leu4845=) c.14520G>T (p.Leu4840=) c.14550G>T (p.Leu4850=) c.14466G>T (p.Leu4822=) | |
| 19 | g.38580412T>A | CA405687680 | RYR1 | c.1490T>A c.2887T>A c.2859T>A c.14554T>A (p.Tyr4852Asn) c.14539T>A (p.Tyr4847Asn) c.14536T>A (p.Tyr4846Asn) c.14521T>A (p.Tyr4841Asn) c.14551T>A (p.Tyr4851Asn) c.14467T>A (p.Tyr4823Asn) | |
| 19 | g.38580412T>C | CA405687683 | RYR1 | c.1490T>C c.2887T>C c.2859T>C c.14554T>C (p.Tyr4852His) c.14539T>C (p.Tyr4847His) c.14536T>C (p.Tyr4846His) c.14521T>C (p.Tyr4841His) c.14551T>C (p.Tyr4851His) c.14467T>C (p.Tyr4823His) | |
| 19 | g.38580412T>G | CA405687682 | RYR1 | c.1490T>G c.2887T>G c.2859T>G c.14554T>G (p.Tyr4852Asp) c.14539T>G (p.Tyr4847Asp) c.14536T>G (p.Tyr4846Asp) c.14521T>G (p.Tyr4841Asp) c.14551T>G (p.Tyr4851Asp) c.14467T>G (p.Tyr4823Asp) | |
| 19 | g.38580413A= | CA2335092463 | RYR1 | c.1491A= c.2888A= c.2860A= c.14555A= (p.Tyr4852=) c.14540A= (p.Tyr4847=) c.14537A= (p.Tyr4846=) c.14522A= (p.Tyr4841=) c.14552A= (p.Tyr4851=) c.14468A= (p.Tyr4823=) | |
| 19 | g.38580413A>C | CA405687685 | RYR1 | c.1491A>C c.2888A>C c.2860A>C c.14555A>C (p.Tyr4852Ser) c.14540A>C (p.Tyr4847Ser) c.14537A>C (p.Tyr4846Ser) c.14522A>C (p.Tyr4841Ser) c.14552A>C (p.Tyr4851Ser) c.14468A>C (p.Tyr4823Ser) | |
| 19 | g.38580413A>G | CA10604732 | RYR1 | c.1491A>G c.2888A>G c.2860A>G c.14555A>G (p.Tyr4852Cys) c.14540A>G (p.Tyr4847Cys) c.14537A>G (p.Tyr4846Cys) c.14522A>G (p.Tyr4841Cys) c.14552A>G (p.Tyr4851Cys) c.14468A>G (p.Tyr4823Cys) | ClinVar dbSNP |
| 19 | g.38580413A>T | CA405687687 | RYR1 | c.1491A>T c.2888A>T c.2860A>T c.14555A>T (p.Tyr4852Phe) c.14540A>T (p.Tyr4847Phe) c.14537A>T (p.Tyr4846Phe) c.14522A>T (p.Tyr4841Phe) c.14552A>T (p.Tyr4851Phe) c.14468A>T (p.Tyr4823Phe) | |
| 19 | g.38580414C>A | CA405687689 | RYR1 | c.1492C>A c.2889C>A c.2861C>A c.14556C>A (p.Tyr4852Ter) c.14541C>A (p.Tyr4847Ter) c.14538C>A (p.Tyr4846Ter) c.14523C>A (p.Tyr4841Ter) c.14553C>A (p.Tyr4851Ter) c.14469C>A (p.Tyr4823Ter) | |
| 19 | g.38580414C>G | CA405687690 | RYR1 | c.1492C>G c.2889C>G c.2861C>G c.14556C>G (p.Tyr4852Ter) c.14541C>G (p.Tyr4847Ter) c.14538C>G (p.Tyr4846Ter) c.14523C>G (p.Tyr4841Ter) c.14553C>G (p.Tyr4851Ter) c.14469C>G (p.Tyr4823Ter) | |
| 19 | g.38580414C>T | CA507356102 | RYR1 | c.1492C>T c.2889C>T c.2861C>T c.14556C>T (p.Tyr4852=) c.14541C>T (p.Tyr4847=) c.14538C>T (p.Tyr4846=) c.14523C>T (p.Tyr4841=) c.14553C>T (p.Tyr4851=) c.14469C>T (p.Tyr4823=) | gnomAD v4 |
| 19 | g.38580415A>C | CA405687691 | RYR1 | c.1493A>C c.2890A>C c.2862A>C c.14557A>C (p.Thr4853Pro) c.14542A>C (p.Thr4848Pro) c.14539A>C (p.Thr4847Pro) c.14524A>C (p.Thr4842Pro) c.14554A>C (p.Thr4852Pro) c.14470A>C (p.Thr4824Pro) | |
| 19 | g.38580415A>G | CA405687692 | RYR1 | c.1493A>G c.2890A>G c.2862A>G c.14557A>G (p.Thr4853Ala) c.14542A>G (p.Thr4848Ala) c.14539A>G (p.Thr4847Ala) c.14524A>G (p.Thr4842Ala) c.14554A>G (p.Thr4852Ala) c.14470A>G (p.Thr4824Ala) | gnomAD v4 |
| 19 | g.38580415A>T | CA405687693 | RYR1 | c.1493A>T c.2890A>T c.2862A>T c.14557A>T (p.Thr4853Ser) c.14542A>T (p.Thr4848Ser) c.14539A>T (p.Thr4847Ser) c.14524A>T (p.Thr4842Ser) c.14554A>T (p.Thr4852Ser) c.14470A>T (p.Thr4824Ser) | |
| 19 | g.38580416C>A | CA405687695 | RYR1 | c.1494C>A c.2891C>A c.2863C>A c.14558C>A (p.Thr4853Asn) c.14543C>A (p.Thr4848Asn) c.14540C>A (p.Thr4847Asn) c.14525C>A (p.Thr4842Asn) c.14555C>A (p.Thr4852Asn) c.14471C>A (p.Thr4824Asn) | ClinVar |
| 19 | g.38580416C= | CA2335092464 | RYR1 | c.1494C= c.2891C= c.2863C= c.14558C= (p.Thr4853=) c.14543C= (p.Thr4848=) c.14540C= (p.Thr4847=) c.14525C= (p.Thr4842=) c.14555C= (p.Thr4852=) c.14471C= (p.Thr4824=) | |
| 19 | g.38580416C>G | CA405687697 | RYR1 | c.1494C>G c.2891C>G c.2863C>G c.14558C>G (p.Thr4853Ser) c.14543C>G (p.Thr4848Ser) c.14540C>G (p.Thr4847Ser) c.14525C>G (p.Thr4842Ser) c.14555C>G (p.Thr4852Ser) c.14471C>G (p.Thr4824Ser) | gnomAD v4 |
| 19 | g.38580416C>T | CA405687698 | RYR1 | c.1494C>T c.2891C>T c.2863C>T c.14558C>T (p.Thr4853Ile) c.14543C>T (p.Thr4848Ile) c.14540C>T (p.Thr4847Ile) c.14525C>T (p.Thr4842Ile) c.14555C>T (p.Thr4852Ile) c.14471C>T (p.Thr4824Ile) | ClinVar dbSNP |
| 19 | g.38580417C>A | CA507356105 | RYR1 | c.1495C>A c.2892C>A c.2864C>A c.14559C>A (p.Thr4853=) c.14544C>A (p.Thr4848=) c.14541C>A (p.Thr4847=) c.14526C>A (p.Thr4842=) c.14556C>A (p.Thr4852=) c.14472C>A (p.Thr4824=) | |
| 19 | g.38580417C= | CA2335092465 | RYR1 | c.1495C= c.2892C= c.2864C= c.14559C= (p.Thr4853=) c.14544C= (p.Thr4848=) c.14541C= (p.Thr4847=) c.14526C= (p.Thr4842=) c.14556C= (p.Thr4852=) c.14472C= (p.Thr4824=) | |
| 19 | g.38580417C>G | CA507356106 | RYR1 | c.1495C>G c.2892C>G c.2864C>G c.14559C>G (p.Thr4853=) c.14544C>G (p.Thr4848=) c.14541C>G (p.Thr4847=) c.14526C>G (p.Thr4842=) c.14556C>G (p.Thr4852=) c.14472C>G (p.Thr4824=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580417C>T | CA061387 | RYR1 | c.1495C>T c.2892C>T c.2864C>T c.14559C>T (p.Thr4853=) c.14544C>T (p.Thr4848=) c.14541C>T (p.Thr4847=) c.14526C>T (p.Thr4842=) c.14556C>T (p.Thr4852=) c.14472C>T (p.Thr4824=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580417_38580420delinsCGTG | CA2335092466 | RYR1 | c.1495_1498delinsCGTG c.2892_2895delinsCGTG c.2864_2867delinsCGTG c.14559_14562delinsCGTG (p.Thr4853=) c.14544_14547delinsCGTG (p.Thr4848=) c.14541_14544delinsCGTG (p.Thr4847=) c.14526_14529delinsCGTG (p.Thr4842=) c.14556_14559delinsCGTG (p.Thr4852=) c.14472_14475delinsCGTG (p.Thr4824=) | |
| 19 | g.38580418G>A | CA405687700 | RYR1 | c.1496G>A c.2893G>A c.2865G>A c.14560G>A (p.Val4854Met) c.14545G>A (p.Val4849Met) c.14542G>A (p.Val4848Met) c.14527G>A (p.Val4843Met) c.14557G>A (p.Val4853Met) c.14473G>A (p.Val4825Met) | dbSNP gnomAD v4 COSMIC |
| 19 | g.38580418G>C | CA405687701 | RYR1 | c.1496G>C c.2893G>C c.2865G>C c.14560G>C (p.Val4854Leu) c.14545G>C (p.Val4849Leu) c.14542G>C (p.Val4848Leu) c.14527G>C (p.Val4843Leu) c.14557G>C (p.Val4853Leu) c.14473G>C (p.Val4825Leu) | |
| 19 | g.38580418G= | CA2335092467 | RYR1 | c.1496G= c.2893G= c.2865G= c.14560G= (p.Val4854=) c.14545G= (p.Val4849=) c.14542G= (p.Val4848=) c.14527G= (p.Val4843=) c.14557G= (p.Val4853=) c.14473G= (p.Val4825=) | |
| 19 | g.38580418G>T | CA405687702 | RYR1 | c.1496G>T c.2893G>T c.2865G>T c.14560G>T (p.Val4854Leu) c.14545G>T (p.Val4849Leu) c.14542G>T (p.Val4848Leu) c.14527G>T (p.Val4843Leu) c.14557G>T (p.Val4853Leu) c.14473G>T (p.Val4825Leu) | |
| 19 | g.38580422_38580424del | CA915953038 | RYR1 | c.1500_1502del c.2897_2899del c.2869_2871del c.14564_14566del (p.Val4855del) c.14549_14551del (p.Val4850del) c.14546_14548del (p.Val4849del) c.14531_14533del (p.Val4844del) c.14561_14563del (p.Val4854del) c.14477_14479del (p.Val4826del) | ClinVar dbSNP |
| 19 | g.38580419T>A | CA405687703 | RYR1 | c.1497T>A c.2894T>A c.2866T>A c.14561T>A (p.Val4854Glu) c.14546T>A (p.Val4849Glu) c.14543T>A (p.Val4848Glu) c.14528T>A (p.Val4843Glu) c.14558T>A (p.Val4853Glu) c.14474T>A (p.Val4825Glu) | |
| 19 | g.38580419T>C | CA405687704 | RYR1 | c.1497T>C c.2894T>C c.2866T>C c.14561T>C (p.Val4854Ala) c.14546T>C (p.Val4849Ala) c.14543T>C (p.Val4848Ala) c.14528T>C (p.Val4843Ala) c.14558T>C (p.Val4853Ala) c.14474T>C (p.Val4825Ala) | |
| 19 | g.38580419T>G | CA405687705 | RYR1 | c.1497T>G c.2894T>G c.2866T>G c.14561T>G (p.Val4854Gly) c.14546T>G (p.Val4849Gly) c.14543T>G (p.Val4848Gly) c.14528T>G (p.Val4843Gly) c.14558T>G (p.Val4853Gly) c.14474T>G (p.Val4825Gly) | |
| 19 | g.38580420G>A | CA507356109 | RYR1 | c.1498G>A c.2895G>A c.2867G>A c.14562G>A (p.Val4854=) c.14547G>A (p.Val4849=) c.14544G>A (p.Val4848=) c.14529G>A (p.Val4843=) c.14559G>A (p.Val4853=) c.14475G>A (p.Val4825=) | gnomAD v4 |
| 19 | g.38580420G>C | CA507356110 | RYR1 | c.1498G>C c.2895G>C c.2867G>C c.14562G>C (p.Val4854=) c.14547G>C (p.Val4849=) c.14544G>C (p.Val4848=) c.14529G>C (p.Val4843=) c.14559G>C (p.Val4853=) c.14475G>C (p.Val4825=) | |
| 19 | g.38580420G>T | CA507356111 | RYR1 | c.1498G>T c.2895G>T c.2867G>T c.14562G>T (p.Val4854=) c.14547G>T (p.Val4849=) c.14544G>T (p.Val4848=) c.14529G>T (p.Val4843=) c.14559G>T (p.Val4853=) c.14475G>T (p.Val4825=) | |
| 19 | g.38580421G>A | CA405687706 | RYR1 | c.1499G>A c.2896G>A c.2868G>A c.14563G>A (p.Val4855Met) c.14548G>A (p.Val4850Met) c.14545G>A (p.Val4849Met) c.14530G>A (p.Val4844Met) c.14560G>A (p.Val4854Met) c.14476G>A (p.Val4826Met) | |
| 19 | g.38580421G>C | CA405687707 | RYR1 | c.1499G>C c.2896G>C c.2868G>C c.14563G>C (p.Val4855Leu) c.14548G>C (p.Val4850Leu) c.14545G>C (p.Val4849Leu) c.14530G>C (p.Val4844Leu) c.14560G>C (p.Val4854Leu) c.14476G>C (p.Val4826Leu) | |
| 19 | g.38580421G= | CA2335092468 | RYR1 | c.1499G= c.2896G= c.2868G= c.14563G= (p.Val4855=) c.14548G= (p.Val4850=) c.14545G= (p.Val4849=) c.14530G= (p.Val4844=) c.14560G= (p.Val4854=) c.14476G= (p.Val4826=) | |
| 19 | g.38580421G>T | CA061391 | RYR1 | c.1499G>T c.2896G>T c.2868G>T c.14563G>T (p.Val4855Leu) c.14548G>T (p.Val4850Leu) c.14545G>T (p.Val4849Leu) c.14530G>T (p.Val4844Leu) c.14560G>T (p.Val4854Leu) c.14476G>T (p.Val4826Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580422T>A | CA405687708 | RYR1 | c.1500T>A c.2897T>A c.2869T>A c.14564T>A (p.Val4855Glu) c.14549T>A (p.Val4850Glu) c.14546T>A (p.Val4849Glu) c.14531T>A (p.Val4844Glu) c.14561T>A (p.Val4854Glu) c.14477T>A (p.Val4826Glu) | ClinVar dbSNP |
| 19 | g.38580422T>C | CA405687709 | RYR1 | c.1500T>C c.2897T>C c.2869T>C c.14564T>C (p.Val4855Ala) c.14549T>C (p.Val4850Ala) c.14546T>C (p.Val4849Ala) c.14531T>C (p.Val4844Ala) c.14561T>C (p.Val4854Ala) c.14477T>C (p.Val4826Ala) | |
| 19 | g.38580422T>G | CA405687710 | RYR1 | c.1500T>G c.2897T>G c.2869T>G c.14564T>G (p.Val4855Gly) c.14549T>G (p.Val4850Gly) c.14546T>G (p.Val4849Gly) c.14531T>G (p.Val4844Gly) c.14561T>G (p.Val4854Gly) c.14477T>G (p.Val4826Gly) | |
| 19 | g.38580422T= | CA2335092469 | RYR1 | c.1500T= c.2897T= c.2869T= c.14564T= (p.Val4855=) c.14549T= (p.Val4850=) c.14546T= (p.Val4849=) c.14531T= (p.Val4844=) c.14561T= (p.Val4854=) c.14477T= (p.Val4826=) | |
| 19 | g.38580423G>A | CA507356113 | RYR1 | c.1501G>A c.2898G>A c.2870G>A c.14565G>A (p.Val4855=) c.14550G>A (p.Val4850=) c.14547G>A (p.Val4849=) c.14532G>A (p.Val4844=) c.14562G>A (p.Val4854=) c.14478G>A (p.Val4826=) | |
| 19 | g.38580423G>C | CA507356114 | RYR1 | c.1501G>C c.2898G>C c.2870G>C c.14565G>C (p.Val4855=) c.14550G>C (p.Val4850=) c.14547G>C (p.Val4849=) c.14532G>C (p.Val4844=) c.14562G>C (p.Val4854=) c.14478G>C (p.Val4826=) | |
| 19 | g.38580423G>T | CA507356115 | RYR1 | c.1501G>T c.2898G>T c.2870G>T c.14565G>T (p.Val4855=) c.14550G>T (p.Val4850=) c.14547G>T (p.Val4849=) c.14532G>T (p.Val4844=) c.14562G>T (p.Val4854=) c.14478G>T (p.Val4826=) | |
| 19 | g.38580424G>A | CA405687711 | RYR1 | c.1502G>A c.2899G>A c.2871G>A c.14566G>A (p.Ala4856Thr) c.14551G>A (p.Ala4851Thr) c.14548G>A (p.Ala4850Thr) c.14533G>A (p.Ala4845Thr) c.14563G>A (p.Ala4855Thr) c.14479G>A (p.Ala4827Thr) | ClinVar dbSNP |
| 19 | g.38580424G>C | CA405687712 | RYR1 | c.1502G>C c.2899G>C c.2871G>C c.14566G>C (p.Ala4856Pro) c.14551G>C (p.Ala4851Pro) c.14548G>C (p.Ala4850Pro) c.14533G>C (p.Ala4845Pro) c.14563G>C (p.Ala4855Pro) c.14479G>C (p.Ala4827Pro) | |
| 19 | g.38580424G>T | CA081261 | RYR1 | c.1502G>T c.2899G>T c.2871G>T c.14566G>T (p.Ala4856Ser) c.14551G>T (p.Ala4851Ser) c.14548G>T (p.Ala4850Ser) c.14533G>T (p.Ala4845Ser) c.14563G>T (p.Ala4855Ser) c.14479G>T (p.Ala4827Ser) | |
| 19 | g.38580425C>A | CA405687714 | RYR1 | c.1503C>A c.2900C>A c.2872C>A c.14567C>A (p.Ala4856Asp) c.14552C>A (p.Ala4851Asp) c.14549C>A (p.Ala4850Asp) c.14534C>A (p.Ala4845Asp) c.14564C>A (p.Ala4855Asp) c.14480C>A (p.Ala4827Asp) | |
| 19 | g.38580425C= | CA2335092470 | RYR1 | c.1503C= c.2900C= c.2872C= c.14567C= (p.Ala4856=) c.14552C= (p.Ala4851=) c.14549C= (p.Ala4850=) c.14534C= (p.Ala4845=) c.14564C= (p.Ala4855=) c.14480C= (p.Ala4827=) | |
| 19 | g.38580425C>G | CA024172 | RYR1 | c.1503C>G c.2900C>G c.2872C>G c.14567C>G (p.Ala4856Gly) c.14552C>G (p.Ala4851Gly) c.14549C>G (p.Ala4850Gly) c.14534C>G (p.Ala4845Gly) c.14564C>G (p.Ala4855Gly) c.14480C>G (p.Ala4827Gly) | ClinVar dbSNP |
| 19 | g.38580425C>T | CA405687716 | RYR1 | c.1503C>T c.2900C>T c.2872C>T c.14567C>T (p.Ala4856Val) c.14552C>T (p.Ala4851Val) c.14549C>T (p.Ala4850Val) c.14534C>T (p.Ala4845Val) c.14564C>T (p.Ala4855Val) c.14480C>T (p.Ala4827Val) | |
| 19 | g.38580426C>A | CA507356120 | RYR1 | c.1504C>A c.2901C>A c.2873C>A c.14568C>A (p.Ala4856=) c.14553C>A (p.Ala4851=) c.14550C>A (p.Ala4850=) c.14535C>A (p.Ala4845=) c.14565C>A (p.Ala4855=) c.14481C>A (p.Ala4827=) | |
| 19 | g.38580426C>G | CA507356121 | RYR1 | c.1504C>G c.2901C>G c.2873C>G c.14568C>G (p.Ala4856=) c.14553C>G (p.Ala4851=) c.14550C>G (p.Ala4850=) c.14535C>G (p.Ala4845=) c.14565C>G (p.Ala4855=) c.14481C>G (p.Ala4827=) | |
| 19 | g.38580426C>T | CA507356122 | RYR1 | c.1504C>T c.2901C>T c.2873C>T c.14568C>T (p.Ala4856=) c.14553C>T (p.Ala4851=) c.14550C>T (p.Ala4850=) c.14535C>T (p.Ala4845=) c.14565C>T (p.Ala4855=) c.14481C>T (p.Ala4827=) | |
| 19 | g.38580427T>A | CA405687717 | RYR1 | c.1505T>A c.2902T>A c.2874T>A c.14569T>A (p.Phe4857Ile) c.14554T>A (p.Phe4852Ile) c.14551T>A (p.Phe4851Ile) c.14536T>A (p.Phe4846Ile) c.14566T>A (p.Phe4856Ile) c.14482T>A (p.Phe4828Ile) | |
| 19 | g.38580427T>C | CA405687719 | RYR1 | c.1505T>C c.2902T>C c.2874T>C c.14569T>C (p.Phe4857Leu) c.14554T>C (p.Phe4852Leu) c.14551T>C (p.Phe4851Leu) c.14536T>C (p.Phe4846Leu) c.14566T>C (p.Phe4856Leu) c.14482T>C (p.Phe4828Leu) | ClinVar dbSNP |
| 19 | g.38580427T>G | CA405687721 | RYR1 | c.1505T>G c.2902T>G c.2874T>G c.14569T>G (p.Phe4857Val) c.14554T>G (p.Phe4852Val) c.14551T>G (p.Phe4851Val) c.14536T>G (p.Phe4846Val) c.14566T>G (p.Phe4856Val) c.14482T>G (p.Phe4828Val) | |
| 19 | g.38580428T>A | CA405687728 | RYR1 | c.1506T>A c.2903T>A c.2875T>A c.14570T>A (p.Phe4857Tyr) c.14555T>A (p.Phe4852Tyr) c.14552T>A (p.Phe4851Tyr) c.14537T>A (p.Phe4846Tyr) c.14567T>A (p.Phe4856Tyr) c.14483T>A (p.Phe4828Tyr) | ClinVar dbSNP |
| 19 | g.38580428T>C | CA405687723 | RYR1 | c.1506T>C c.2903T>C c.2875T>C c.14570T>C (p.Phe4857Ser) c.14555T>C (p.Phe4852Ser) c.14552T>C (p.Phe4851Ser) c.14537T>C (p.Phe4846Ser) c.14567T>C (p.Phe4856Ser) c.14483T>C (p.Phe4828Ser) | ClinVar dbSNP |
| 19 | g.38580428T>G | CA405687725 | RYR1 | c.1506T>G c.2903T>G c.2875T>G c.14570T>G (p.Phe4857Cys) c.14555T>G (p.Phe4852Cys) c.14552T>G (p.Phe4851Cys) c.14537T>G (p.Phe4846Cys) c.14567T>G (p.Phe4856Cys) c.14483T>G (p.Phe4828Cys) | ClinVar |
| 19 | g.38580428T= | CA2335092471 | RYR1 | c.1506T= c.2903T= c.2875T= c.14570T= (p.Phe4857=) c.14555T= (p.Phe4852=) c.14552T= (p.Phe4851=) c.14537T= (p.Phe4846=) c.14567T= (p.Phe4856=) c.14483T= (p.Phe4828=) | |
| 19 | g.38580429C>A | CA405687729 | RYR1 | c.1507C>A c.2904C>A c.2876C>A c.14571C>A (p.Phe4857Leu) c.14556C>A (p.Phe4852Leu) c.14553C>A (p.Phe4851Leu) c.14538C>A (p.Phe4846Leu) c.14568C>A (p.Phe4856Leu) c.14484C>A (p.Phe4828Leu) | |
| 19 | g.38580429C>G | CA405687730 | RYR1 | c.1507C>G c.2904C>G c.2876C>G c.14571C>G (p.Phe4857Leu) c.14556C>G (p.Phe4852Leu) c.14553C>G (p.Phe4851Leu) c.14538C>G (p.Phe4846Leu) c.14568C>G (p.Phe4856Leu) c.14484C>G (p.Phe4828Leu) | |
| 19 | g.38580429C>T | CA507356124 | RYR1 | c.1507C>T c.2904C>T c.2876C>T c.14571C>T (p.Phe4857=) c.14556C>T (p.Phe4852=) c.14553C>T (p.Phe4851=) c.14538C>T (p.Phe4846=) c.14568C>T (p.Phe4856=) c.14484C>T (p.Phe4828=) | |
| 19 | g.38580430A= | CA2335092472 | RYR1 | c.1508A= c.2905A= c.2877A= c.14572A= (p.Asn4858=) c.14557A= (p.Asn4853=) c.14554A= (p.Asn4852=) c.14539A= (p.Asn4847=) c.14569A= (p.Asn4857=) c.14485A= (p.Asn4829=) | |
| 19 | g.38580430A>C | CA405687731 | RYR1 | c.1508A>C c.2905A>C c.2877A>C c.14572A>C (p.Asn4858His) c.14557A>C (p.Asn4853His) c.14554A>C (p.Asn4852His) c.14539A>C (p.Asn4847His) c.14569A>C (p.Asn4857His) c.14485A>C (p.Asn4829His) | |
| 19 | g.38580430A>G | CA024174 | RYR1 | c.1508A>G c.2905A>G c.2877A>G c.14572A>G (p.Asn4858Asp) c.14557A>G (p.Asn4853Asp) c.14554A>G (p.Asn4852Asp) c.14539A>G (p.Asn4847Asp) c.14569A>G (p.Asn4857Asp) c.14485A>G (p.Asn4829Asp) | ClinVar dbSNP |
| 19 | g.38580430A>T | CA405687733 | RYR1 | c.1508A>T c.2905A>T c.2877A>T c.14572A>T (p.Asn4858Tyr) c.14557A>T (p.Asn4853Tyr) c.14554A>T (p.Asn4852Tyr) c.14539A>T (p.Asn4847Tyr) c.14569A>T (p.Asn4857Tyr) c.14485A>T (p.Asn4829Tyr) | |
| 19 | g.38580431A= | CA2335092474 | RYR1 | c.1509A= c.2906A= c.2878A= c.14573A= (p.Asn4858=) c.14558A= (p.Asn4853=) c.14555A= (p.Asn4852=) c.14540A= (p.Asn4847=) c.14570A= (p.Asn4857=) c.14486A= (p.Asn4829=) | |
| 19 | g.38580431A>C | CA405687736 | RYR1 | c.1509A>C c.2906A>C c.2878A>C c.14573A>C (p.Asn4858Thr) c.14558A>C (p.Asn4853Thr) c.14555A>C (p.Asn4852Thr) c.14540A>C (p.Asn4847Thr) c.14570A>C (p.Asn4857Thr) c.14486A>C (p.Asn4829Thr) | |
| 19 | g.38580431A>G | CA405687738 | RYR1 | c.1509A>G c.2906A>G c.2878A>G c.14573A>G (p.Asn4858Ser) c.14558A>G (p.Asn4853Ser) c.14555A>G (p.Asn4852Ser) c.14540A>G (p.Asn4847Ser) c.14570A>G (p.Asn4857Ser) c.14486A>G (p.Asn4829Ser) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38580431A>T | CA405687741 | RYR1 | c.1509A>T c.2906A>T c.2878A>T c.14573A>T (p.Asn4858Ile) c.14558A>T (p.Asn4853Ile) c.14555A>T (p.Asn4852Ile) c.14540A>T (p.Asn4847Ile) c.14570A>T (p.Asn4857Ile) c.14486A>T (p.Asn4829Ile) | |
| 19 | g.38580431_38580434delinsACTT | CA2335092473 | RYR1 | c.1509_1512delinsACTT c.2906_2909delinsACTT c.2878_2881delinsACTT c.14573_14576delinsACTT (p.Asn4858=) c.14558_14561delinsACTT (p.Asn4853=) c.14555_14558delinsACTT (p.Asn4852=) c.14540_14543delinsACTT (p.Asn4847=) c.14570_14573delinsACTT (p.Asn4857=) c.14486_14489delinsACTT (p.Asn4829=) | |
| 19 | g.38580432C>A | CA405687744 | RYR1 | c.1510C>A c.2907C>A c.2879C>A c.14574C>A (p.Asn4858Lys) c.14559C>A (p.Asn4853Lys) c.14556C>A (p.Asn4852Lys) c.14541C>A (p.Asn4847Lys) c.14571C>A (p.Asn4857Lys) c.14487C>A (p.Asn4829Lys) | |
| 19 | g.38580432C= | CA2335092475 | RYR1 | c.1510C= c.2907C= c.2879C= c.14574C= (p.Asn4858=) c.14559C= (p.Asn4853=) c.14556C= (p.Asn4852=) c.14541C= (p.Asn4847=) c.14571C= (p.Asn4857=) c.14487C= (p.Asn4829=) | |
| 19 | g.38580432C>G | CA405687747 | RYR1 | c.1510C>G c.2907C>G c.2879C>G c.14574C>G (p.Asn4858Lys) c.14559C>G (p.Asn4853Lys) c.14556C>G (p.Asn4852Lys) c.14541C>G (p.Asn4847Lys) c.14571C>G (p.Asn4857Lys) c.14487C>G (p.Asn4829Lys) | |
| 19 | g.38580432C>T | CA507356126 | RYR1 | c.1510C>T c.2907C>T c.2879C>T c.14574C>T (p.Asn4858=) c.14559C>T (p.Asn4853=) c.14556C>T (p.Asn4852=) c.14541C>T (p.Asn4847=) c.14571C>T (p.Asn4857=) c.14487C>T (p.Asn4829=) | dbSNP |
| 19 | g.38580436_38580438del | CA024177 | RYR1 | c.1514_1516del c.2911_2913del c.2883_2885del c.14578_14580del (p.Phe4860del) c.14563_14565del (p.Phe4855del) c.14560_14562del (p.Phe4854del) c.14545_14547del (p.Phe4849del) c.14575_14577del (p.Phe4859del) c.14491_14493del (p.Phe4831del) | ClinVar dbSNP |
| 19 | g.38580433T>A | CA405687752 | RYR1 | c.1511T>A c.2908T>A c.2880T>A c.14575T>A (p.Phe4859Ile) c.14560T>A (p.Phe4854Ile) c.14557T>A (p.Phe4853Ile) c.14542T>A (p.Phe4848Ile) c.14572T>A (p.Phe4858Ile) c.14488T>A (p.Phe4830Ile) | |
| 19 | g.38580433T>C | CA405687753 | RYR1 | c.1511T>C c.2908T>C c.2880T>C c.14575T>C (p.Phe4859Leu) c.14560T>C (p.Phe4854Leu) c.14557T>C (p.Phe4853Leu) c.14542T>C (p.Phe4848Leu) c.14572T>C (p.Phe4858Leu) c.14488T>C (p.Phe4830Leu) | |
| 19 | g.38580433T>G | CA405687756 | RYR1 | c.1511T>G c.2908T>G c.2880T>G c.14575T>G (p.Phe4859Val) c.14560T>G (p.Phe4854Val) c.14557T>G (p.Phe4853Val) c.14542T>G (p.Phe4848Val) c.14572T>G (p.Phe4858Val) c.14488T>G (p.Phe4830Val) | |
| 19 | g.38580434T>A | CA405687762 | RYR1 | c.1512T>A c.2909T>A c.2881T>A c.14576T>A (p.Phe4859Tyr) c.14561T>A (p.Phe4854Tyr) c.14558T>A (p.Phe4853Tyr) c.14543T>A (p.Phe4848Tyr) c.14573T>A (p.Phe4858Tyr) c.14489T>A (p.Phe4830Tyr) | gnomAD v4 |
| 19 | g.38580434T>C | CA405687758 | RYR1 | c.1512T>C c.2909T>C c.2881T>C c.14576T>C (p.Phe4859Ser) c.14561T>C (p.Phe4854Ser) c.14558T>C (p.Phe4853Ser) c.14543T>C (p.Phe4848Ser) c.14573T>C (p.Phe4858Ser) c.14489T>C (p.Phe4830Ser) | |
| 19 | g.38580434T>G | CA405687761 | RYR1 | c.1512T>G c.2909T>G c.2881T>G c.14576T>G (p.Phe4859Cys) c.14561T>G (p.Phe4854Cys) c.14558T>G (p.Phe4853Cys) c.14543T>G (p.Phe4848Cys) c.14573T>G (p.Phe4858Cys) c.14489T>G (p.Phe4830Cys) | |
| 19 | g.38580435C>A | CA405687765 | RYR1 | c.1513C>A c.2910C>A c.2882C>A c.14577C>A (p.Phe4859Leu) c.14562C>A (p.Phe4854Leu) c.14559C>A (p.Phe4853Leu) c.14544C>A (p.Phe4848Leu) c.14574C>A (p.Phe4858Leu) c.14490C>A (p.Phe4830Leu) | gnomAD v4 |
| 19 | g.38580435C>G | CA405687766 | RYR1 | c.1513C>G c.2910C>G c.2882C>G c.14577C>G (p.Phe4859Leu) c.14562C>G (p.Phe4854Leu) c.14559C>G (p.Phe4853Leu) c.14544C>G (p.Phe4848Leu) c.14574C>G (p.Phe4858Leu) c.14490C>G (p.Phe4830Leu) | |
| 19 | g.38580435C>T | CA507356127 | RYR1 | c.1513C>T c.2910C>T c.2882C>T c.14577C>T (p.Phe4859=) c.14562C>T (p.Phe4854=) c.14559C>T (p.Phe4853=) c.14544C>T (p.Phe4848=) c.14574C>T (p.Phe4858=) c.14490C>T (p.Phe4830=) | COSMIC |
| 19 | g.38580436T>A | CA405687775 | RYR1 | c.1514T>A c.2911T>A c.2883T>A c.14578T>A (p.Phe4860Ile) c.14563T>A (p.Phe4855Ile) c.14560T>A (p.Phe4854Ile) c.14545T>A (p.Phe4849Ile) c.14575T>A (p.Phe4859Ile) c.14491T>A (p.Phe4831Ile) | |
| 19 | g.38580436T>C | CA405687778 | RYR1 | c.1514T>C c.2911T>C c.2883T>C c.14578T>C (p.Phe4860Leu) c.14563T>C (p.Phe4855Leu) c.14560T>C (p.Phe4854Leu) c.14545T>C (p.Phe4849Leu) c.14575T>C (p.Phe4859Leu) c.14491T>C (p.Phe4831Leu) | |
| 19 | g.38580436T>G | CA024183 | RYR1 | c.1514T>G c.2911T>G c.2883T>G c.14578T>G (p.Phe4860Val) c.14563T>G (p.Phe4855Val) c.14560T>G (p.Phe4854Val) c.14545T>G (p.Phe4849Val) c.14575T>G (p.Phe4859Val) c.14491T>G (p.Phe4831Val) | ClinVar dbSNP |
| 19 | g.38580436T= | CA2335092476 | RYR1 | c.1514T= c.2911T= c.2883T= c.14578T= (p.Phe4860=) c.14563T= (p.Phe4855=) c.14560T= (p.Phe4854=) c.14545T= (p.Phe4849=) c.14575T= (p.Phe4859=) c.14491T= (p.Phe4831=) | |
| 19 | g.38580437T>A | CA405687782 | RYR1 | c.1515T>A c.2912T>A c.2884T>A c.14579T>A (p.Phe4860Tyr) c.14564T>A (p.Phe4855Tyr) c.14561T>A (p.Phe4854Tyr) c.14546T>A (p.Phe4849Tyr) c.14576T>A (p.Phe4859Tyr) c.14492T>A (p.Phe4831Tyr) | |
| 19 | g.38580437T>C | CA405687783 | RYR1 | c.1515T>C c.2912T>C c.2884T>C c.14579T>C (p.Phe4860Ser) c.14564T>C (p.Phe4855Ser) c.14561T>C (p.Phe4854Ser) c.14546T>C (p.Phe4849Ser) c.14576T>C (p.Phe4859Ser) c.14492T>C (p.Phe4831Ser) | ClinVar dbSNP |
| 19 | g.38580437T>G | CA405687786 | RYR1 | c.1515T>G c.2912T>G c.2884T>G c.14579T>G (p.Phe4860Cys) c.14564T>G (p.Phe4855Cys) c.14561T>G (p.Phe4854Cys) c.14546T>G (p.Phe4849Cys) c.14576T>G (p.Phe4859Cys) c.14492T>G (p.Phe4831Cys) | |
| 19 | g.38580437T= | CA2335092478 | RYR1 | c.1515T= c.2912T= c.2884T= c.14579T= (p.Phe4860=) c.14564T= (p.Phe4855=) c.14561T= (p.Phe4854=) c.14546T= (p.Phe4849=) c.14576T= (p.Phe4859=) c.14492T= (p.Phe4831=) | |
| 19 | g.38580437_38580438delinsAA | CA658799204 | RYR1 | c.1515_1516delinsAA c.2912_2913delinsAA c.2884_2885delinsAA c.14579_14580delinsAA (p.Phe4860Ter) c.14564_14565delinsAA (p.Phe4855Ter) c.14561_14562delinsAA (p.Phe4854Ter) c.14546_14547delinsAA (p.Phe4849Ter) c.14576_14577delinsAA (p.Phe4859Ter) c.14492_14493delinsAA (p.Phe4831Ter) | ClinVar dbSNP |
| 19 | g.38580437_38580438delinsTC | CA2335092477 | RYR1 | c.1515_1516delinsTC c.2912_2913delinsTC c.2884_2885delinsTC c.14579_14580delinsTC (p.Phe4860=) c.14564_14565delinsTC (p.Phe4855=) c.14561_14562delinsTC (p.Phe4854=) c.14546_14547delinsTC (p.Phe4849=) c.14576_14577delinsTC (p.Phe4859=) c.14492_14493delinsTC (p.Phe4831=) | |
| 19 | g.38580438C>A | CA405687788 | RYR1 | c.1516C>A c.2913C>A c.2885C>A c.14580C>A (p.Phe4860Leu) c.14565C>A (p.Phe4855Leu) c.14562C>A (p.Phe4854Leu) c.14547C>A (p.Phe4849Leu) c.14577C>A (p.Phe4859Leu) c.14493C>A (p.Phe4831Leu) | |
| 19 | g.38580438C= | CA2335092479 | RYR1 | c.1516C= c.2913C= c.2885C= c.14580C= (p.Phe4860=) c.14565C= (p.Phe4855=) c.14562C= (p.Phe4854=) c.14547C= (p.Phe4849=) c.14577C= (p.Phe4859=) c.14493C= (p.Phe4831=) | |
| 19 | g.38580438C>G | CA405687791 | RYR1 | c.1516C>G c.2913C>G c.2885C>G c.14580C>G (p.Phe4860Leu) c.14565C>G (p.Phe4855Leu) c.14562C>G (p.Phe4854Leu) c.14547C>G (p.Phe4849Leu) c.14577C>G (p.Phe4859Leu) c.14493C>G (p.Phe4831Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580438C>T | CA061395 | RYR1 | c.1516C>T c.2913C>T c.2885C>T c.14580C>T (p.Phe4860=) c.14565C>T (p.Phe4855=) c.14562C>T (p.Phe4854=) c.14547C>T (p.Phe4849=) c.14577C>T (p.Phe4859=) c.14493C>T (p.Phe4831=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580439C>A | CA405687794 | RYR1 | c.1517C>A c.2914C>A c.2886C>A c.14581C>A (p.Arg4861Ser) c.14566C>A (p.Arg4856Ser) c.14563C>A (p.Arg4855Ser) c.14548C>A (p.Arg4850Ser) c.14578C>A (p.Arg4860Ser) c.14494C>A (p.Arg4832Ser) | ClinVar |
| 19 | g.38580439C= | CA2335092480 | RYR1 | c.1517C= c.2914C= c.2886C= c.14581C= (p.Arg4861=) c.14566C= (p.Arg4856=) c.14563C= (p.Arg4855=) c.14548C= (p.Arg4850=) c.14578C= (p.Arg4860=) c.14494C= (p.Arg4832=) | |
| 19 | g.38580439C>G | CA405687798 | RYR1 | c.1517C>G c.2914C>G c.2886C>G c.14581C>G (p.Arg4861Gly) c.14566C>G (p.Arg4856Gly) c.14563C>G (p.Arg4855Gly) c.14548C>G (p.Arg4850Gly) c.14578C>G (p.Arg4860Gly) c.14494C>G (p.Arg4832Gly) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38580439C>T | CA024185 | RYR1 | c.1517C>T c.2914C>T c.2886C>T c.14581C>T (p.Arg4861Cys) c.14566C>T (p.Arg4856Cys) c.14563C>T (p.Arg4855Cys) c.14548C>T (p.Arg4850Cys) c.14578C>T (p.Arg4860Cys) c.14494C>T (p.Arg4832Cys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38580440G>A | CA024187 | RYR1 | c.1518G>A c.2915G>A c.2887G>A c.14582G>A (p.Arg4861His) c.14567G>A (p.Arg4856His) c.14564G>A (p.Arg4855His) c.14549G>A (p.Arg4850His) c.14579G>A (p.Arg4860His) c.14495G>A (p.Arg4832His) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38580440G>C | CA405687804 | RYR1 | c.1518G>C c.2915G>C c.2887G>C c.14582G>C (p.Arg4861Pro) c.14567G>C (p.Arg4856Pro) c.14564G>C (p.Arg4855Pro) c.14549G>C (p.Arg4850Pro) c.14579G>C (p.Arg4860Pro) c.14495G>C (p.Arg4832Pro) | ClinVar dbSNP |
| 19 | g.38580440G= | CA2335092481 | RYR1 | c.1518G= c.2915G= c.2887G= c.14582G= (p.Arg4861=) c.14567G= (p.Arg4856=) c.14564G= (p.Arg4855=) c.14549G= (p.Arg4850=) c.14579G= (p.Arg4860=) c.14495G= (p.Arg4832=) | |
| 19 | g.38580440G>T | CA405687806 | RYR1 | c.1518G>T c.2915G>T c.2887G>T c.14582G>T (p.Arg4861Leu) c.14567G>T (p.Arg4856Leu) c.14564G>T (p.Arg4855Leu) c.14549G>T (p.Arg4850Leu) c.14579G>T (p.Arg4860Leu) c.14495G>T (p.Arg4832Leu) | |
| 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 |