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.38571993C= | CA2335088338 | RYR1 | c.683-26C= c.2080-26C= c.2052-26C= c.13747-26C= (n.13747-26C=) c.13732-26C= (n.13732-26C=) c.13729-26C= (n.13729-26C=) c.207-26C= c.13714-26C= (n.13714-26C=) c.13744-26C= (n.13744-26C=) c.13660-26C= (n.13660-26C=) | |
| 19 | g.38571993C>T | CA060474 | RYR1 | c.683-26C>T c.2080-26C>T c.2052-26C>T c.13747-26C>T (n.13747-26C>T) c.13732-26C>T (n.13732-26C>T) c.13729-26C>T (n.13729-26C>T) c.207-26C>T c.13714-26C>T (n.13714-26C>T) c.13744-26C>T (n.13744-26C>T) c.13660-26C>T (n.13660-26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38571996A>G | CA2584910028 | RYR1 | c.683-23A>G c.2080-23A>G c.2052-23A>G c.13747-23A>G (n.13747-23A>G) c.13732-23A>G (n.13732-23A>G) c.13729-23A>G (n.13729-23A>G) c.207-23A>G c.13714-23A>G (n.13714-23A>G) c.13744-23A>G (n.13744-23A>G) c.13660-23A>G (n.13660-23A>G) | gnomAD v4 |
| 19 | g.38571997T>C | CA2814346908 | RYR1 | c.683-22T>C c.2080-22T>C c.2052-22T>C c.13747-22T>C (n.13747-22T>C) c.13732-22T>C (n.13732-22T>C) c.13729-22T>C (n.13729-22T>C) c.207-22T>C c.13714-22T>C (n.13714-22T>C) c.13744-22T>C (n.13744-22T>C) c.13660-22T>C (n.13660-22T>C) | |
| 19 | g.38571998G>T | CA2584910029 | RYR1 | c.683-21G>T c.2080-21G>T c.2052-21G>T c.13747-21G>T (n.13747-21G>T) c.13732-21G>T (n.13732-21G>T) c.13729-21G>T (n.13729-21G>T) c.207-21G>T c.13714-21G>T (n.13714-21G>T) c.13744-21G>T (n.13744-21G>T) c.13660-21G>T (n.13660-21G>T) | gnomAD v4 |
| 19 | g.38572000A>C | CA2584910030 | RYR1 | c.683-19A>C c.2080-19A>C c.2052-19A>C c.13747-19A>C (n.13747-19A>C) c.13732-19A>C (n.13732-19A>C) c.13729-19A>C (n.13729-19A>C) c.207-19A>C c.13714-19A>C (n.13714-19A>C) c.13744-19A>C (n.13744-19A>C) c.13660-19A>C (n.13660-19A>C) | gnomAD v4 |
| 19 | g.38572001T>C | CA633066835 | RYR1 | c.683-18T>C c.2080-18T>C c.2052-18T>C c.13747-18T>C (n.13747-18T>C) c.13732-18T>C (n.13732-18T>C) c.13729-18T>C (n.13729-18T>C) c.207-18T>C c.13714-18T>C (n.13714-18T>C) c.13744-18T>C (n.13744-18T>C) c.13660-18T>C (n.13660-18T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38572001T= | CA2335088339 | RYR1 | c.683-18T= c.2080-18T= c.2052-18T= c.13747-18T= (n.13747-18T=) c.13732-18T= (n.13732-18T=) c.13729-18T= (n.13729-18T=) c.207-18T= c.13714-18T= (n.13714-18T=) c.13744-18T= (n.13744-18T=) c.13660-18T= (n.13660-18T=) | |
| 19 | g.38572002C= | CA2335088340 | RYR1 | c.683-17C= c.2080-17C= c.2052-17C= c.13747-17C= (n.13747-17C=) c.13732-17C= (n.13732-17C=) c.13729-17C= (n.13729-17C=) c.207-17C= c.13714-17C= (n.13714-17C=) c.13744-17C= (n.13744-17C=) c.13660-17C= (n.13660-17C=) | |
| 19 | g.38572002C>T | CA882062409 | RYR1 | c.683-17C>T c.2080-17C>T c.2052-17C>T c.13747-17C>T (n.13747-17C>T) c.13732-17C>T (n.13732-17C>T) c.13729-17C>T (n.13729-17C>T) c.207-17C>T c.13714-17C>T (n.13714-17C>T) c.13744-17C>T (n.13744-17C>T) c.13660-17C>T (n.13660-17C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38572004C= | CA2335088341 | RYR1 | c.683-15C= c.2080-15C= c.2052-15C= c.13747-15C= (n.13747-15C=) c.13732-15C= (n.13732-15C=) c.13729-15C= (n.13729-15C=) c.207-15C= c.13714-15C= (n.13714-15C=) c.13744-15C= (n.13744-15C=) c.13660-15C= (n.13660-15C=) | |
| 19 | g.38572004C>T | CA060470 | RYR1 | c.683-15C>T c.2080-15C>T c.2052-15C>T c.13747-15C>T (n.13747-15C>T) c.13732-15C>T (n.13732-15C>T) c.13729-15C>T (n.13729-15C>T) c.207-15C>T c.13714-15C>T (n.13714-15C>T) c.13744-15C>T (n.13744-15C>T) c.13660-15C>T (n.13660-15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38572005T>G | CA2739276783 | RYR1 | c.683-14T>G c.2080-14T>G c.2052-14T>G c.13747-14T>G (n.13747-14T>G) c.13732-14T>G (n.13732-14T>G) c.13729-14T>G (n.13729-14T>G) c.207-14T>G c.13714-14T>G (n.13714-14T>G) c.13744-14T>G (n.13744-14T>G) c.13660-14T>G (n.13660-14T>G) | ClinVar |
| 19 | g.38572006G>A | CA2697556504 | RYR1 | c.683-13G>A c.2080-13G>A c.2052-13G>A c.13747-13G>A (n.13747-13G>A) c.13732-13G>A (n.13732-13G>A) c.13729-13G>A (n.13729-13G>A) c.207-13G>A c.13714-13G>A (n.13714-13G>A) c.13744-13G>A (n.13744-13G>A) c.13660-13G>A (n.13660-13G>A) | ClinVar |
| 19 | g.38572007T>C | CA2584910031 | RYR1 | c.683-12T>C c.2080-12T>C c.2052-12T>C c.13747-12T>C (n.13747-12T>C) c.13732-12T>C (n.13732-12T>C) c.13729-12T>C (n.13729-12T>C) c.207-12T>C c.13714-12T>C (n.13714-12T>C) c.13744-12T>C (n.13744-12T>C) c.13660-12T>C (n.13660-12T>C) | gnomAD v4 |
| 19 | g.38572008C>T | CA2584910032 | RYR1 | c.683-11C>T c.2080-11C>T c.2052-11C>T c.13747-11C>T (n.13747-11C>T) c.13732-11C>T (n.13732-11C>T) c.13729-11C>T (n.13729-11C>T) c.207-11C>T c.13714-11C>T (n.13714-11C>T) c.13744-11C>T (n.13744-11C>T) c.13660-11C>T (n.13660-11C>T) | gnomAD v4 |
| 19 | g.38572009C= | CA2335088342 | RYR1 | c.683-10C= c.2080-10C= c.2052-10C= c.13747-10C= (n.13747-10C=) c.13732-10C= (n.13732-10C=) c.13729-10C= (n.13729-10C=) c.207-10C= c.13714-10C= (n.13714-10C=) c.13744-10C= (n.13744-10C=) c.13660-10C= (n.13660-10C=) | |
| 19 | g.38572009C>T | CA308114010 | RYR1 | c.683-10C>T c.2080-10C>T c.2052-10C>T c.13747-10C>T (n.13747-10C>T) c.13732-10C>T (n.13732-10C>T) c.13729-10C>T (n.13729-10C>T) c.207-10C>T c.13714-10C>T (n.13714-10C>T) c.13744-10C>T (n.13744-10C>T) c.13660-10C>T (n.13660-10C>T) | dbSNP gnomAD v4 |
| 19 | g.38572010C>G | CA2739276784 | RYR1 | c.683-9C>G c.2080-9C>G c.2052-9C>G c.13747-9C>G (n.13747-9C>G) c.13732-9C>G (n.13732-9C>G) c.13729-9C>G (n.13729-9C>G) c.207-9C>G c.13714-9C>G (n.13714-9C>G) c.13744-9C>G (n.13744-9C>G) c.13660-9C>G (n.13660-9C>G) | ClinVar |
| 19 | g.38572010C>T | CA2584910033 | RYR1 | c.683-9C>T c.2080-9C>T c.2052-9C>T c.13747-9C>T (n.13747-9C>T) c.13732-9C>T (n.13732-9C>T) c.13729-9C>T (n.13729-9C>T) c.207-9C>T c.13714-9C>T (n.13714-9C>T) c.13744-9C>T (n.13744-9C>T) c.13660-9C>T (n.13660-9C>T) | gnomAD v4 |
| 19 | g.38572011C>T | CA2584910034 | RYR1 | c.683-8C>T c.2080-8C>T c.2052-8C>T c.13747-8C>T (n.13747-8C>T) c.13732-8C>T (n.13732-8C>T) c.13729-8C>T (n.13729-8C>T) c.207-8C>T c.13714-8C>T (n.13714-8C>T) c.13744-8C>T (n.13744-8C>T) c.13660-8C>T (n.13660-8C>T) | gnomAD v4 |
| 19 | g.38572012A>G | CA2739276785 | RYR1 | c.683-7A>G c.2080-7A>G c.2052-7A>G c.13747-7A>G (n.13747-7A>G) c.13732-7A>G (n.13732-7A>G) c.13729-7A>G (n.13729-7A>G) c.207-7A>G c.13714-7A>G (n.13714-7A>G) c.13744-7A>G (n.13744-7A>G) c.13660-7A>G (n.13660-7A>G) | ClinVar |
| 19 | g.38572015del | CA645613547 | RYR1 | c.683-4del c.2080-4del c.2052-4del c.13747-4del (n.13747-4del) c.13732-4del (n.13732-4del) c.13729-4del (n.13729-4del) c.207-4del c.13714-4del (n.13714-4del) c.13744-4del (n.13744-4del) c.13660-4del (n.13660-4del) | COSMIC |
| 19 | g.38572014T>G | CA995736010 | RYR1 | c.683-5T>G c.2080-5T>G c.2052-5T>G c.13747-5T>G (n.13747-5T>G) c.13732-5T>G (n.13732-5T>G) c.13729-5T>G (n.13729-5T>G) c.207-5T>G c.13714-5T>G (n.13714-5T>G) c.13744-5T>G (n.13744-5T>G) c.13660-5T>G (n.13660-5T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38572014T= | CA2335088343 | RYR1 | c.683-5T= c.2080-5T= c.2052-5T= c.13747-5T= (n.13747-5T=) c.13732-5T= (n.13732-5T=) c.13729-5T= (n.13729-5T=) c.207-5T= c.13714-5T= (n.13714-5T=) c.13744-5T= (n.13744-5T=) c.13660-5T= (n.13660-5T=) | |
| 19 | g.38572015T>C | CA2584910035 | RYR1 | c.683-4T>C c.2080-4T>C c.2052-4T>C c.13747-4T>C (n.13747-4T>C) c.13732-4T>C (n.13732-4T>C) c.13729-4T>C (n.13729-4T>C) c.207-4T>C c.13714-4T>C (n.13714-4T>C) c.13744-4T>C (n.13744-4T>C) c.13660-4T>C (n.13660-4T>C) | gnomAD v4 |
| 19 | g.38572015T>G | CA882062413 | RYR1 | c.683-4T>G c.2080-4T>G c.2052-4T>G c.13747-4T>G (n.13747-4T>G) c.13732-4T>G (n.13732-4T>G) c.13729-4T>G (n.13729-4T>G) c.207-4T>G c.13714-4T>G (n.13714-4T>G) c.13744-4T>G (n.13744-4T>G) c.13660-4T>G (n.13660-4T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38572015T= | CA2335088345 | RYR1 | c.683-4T= c.2080-4T= c.2052-4T= c.13747-4T= (n.13747-4T=) c.13732-4T= (n.13732-4T=) c.13729-4T= (n.13729-4T=) c.207-4T= c.13714-4T= (n.13714-4T=) c.13744-4T= (n.13744-4T=) c.13660-4T= (n.13660-4T=) | |
| 19 | g.38572015_38572016delinsTC | CA2335088344 | RYR1 | c.683-4_683-3delinsTC c.2080-4_2080-3delinsTC c.2052-4_2052-3delinsTC c.13747-4_13747-3delinsTC (n.13747-4_13747-3delinsTC) c.13732-4_13732-3delinsTC (n.13732-4_13732-3delinsTC) c.13729-4_13729-3delinsTC (n.13729-4_13729-3delinsTC) c.207-4_207-3delinsTC c.13714-4_13714-3delinsTC (n.13714-4_13714-3delinsTC) c.13744-4_13744-3delinsTC (n.13744-4_13744-3delinsTC) c.13660-4_13660-3delinsTC (n.13660-4_13660-3delinsTC) | |
| 19 | g.38572016del | CA2335088346 | RYR1 | c.683-3del c.2080-3del c.2052-3del c.13747-3del (n.13747-3del) c.13732-3del (n.13732-3del) c.13729-3del (n.13729-3del) c.207-3del c.13714-3del (n.13714-3del) c.13744-3del (n.13744-3del) c.13660-3del (n.13660-3del) | dbSNP |
| 19 | g.38572016C>A | CA2536505000 | RYR1 | c.683-3C>A c.2080-3C>A c.2052-3C>A c.13747-3C>A (n.13747-3C>A) c.13732-3C>A (n.13732-3C>A) c.13729-3C>A (n.13729-3C>A) c.207-3C>A c.13714-3C>A (n.13714-3C>A) c.13744-3C>A (n.13744-3C>A) c.13660-3C>A (n.13660-3C>A) | |
| 19 | g.38572016C>T | CA2814346917 | RYR1 | c.683-3C>T c.2080-3C>T c.2052-3C>T c.13747-3C>T (n.13747-3C>T) c.13732-3C>T (n.13732-3C>T) c.13729-3C>T (n.13729-3C>T) c.207-3C>T c.13714-3C>T (n.13714-3C>T) c.13744-3C>T (n.13744-3C>T) c.13660-3C>T (n.13660-3C>T) | |
| 19 | g.38572017A>C | CA405679822 | RYR1 | c.683-2A>C c.2080-2A>C c.2052-2A>C c.13747-2A>C (n.13747-2A>C) c.13732-2A>C (n.13732-2A>C) c.13729-2A>C (n.13729-2A>C) c.207-2A>C c.13714-2A>C (n.13714-2A>C) c.13744-2A>C (n.13744-2A>C) c.13660-2A>C (n.13660-2A>C) | |
| 19 | g.38572017A>G | CA405679825 | RYR1 | c.683-2A>G c.2080-2A>G c.2052-2A>G c.13747-2A>G (n.13747-2A>G) c.13732-2A>G (n.13732-2A>G) c.13729-2A>G (n.13729-2A>G) c.207-2A>G c.13714-2A>G (n.13714-2A>G) c.13744-2A>G (n.13744-2A>G) c.13660-2A>G (n.13660-2A>G) | |
| 19 | g.38572017A>T | CA405679835 | RYR1 | c.683-2A>T c.2080-2A>T c.2052-2A>T c.13747-2A>T (n.13747-2A>T) c.13732-2A>T (n.13732-2A>T) c.13729-2A>T (n.13729-2A>T) c.207-2A>T c.13714-2A>T (n.13714-2A>T) c.13744-2A>T (n.13744-2A>T) c.13660-2A>T (n.13660-2A>T) | |
| 19 | g.38572018G>A | CA405679839 | RYR1 | c.683-1G>A c.2080-1G>A c.2052-1G>A c.13747-1G>A (n.13747-1G>A) c.13732-1G>A (n.13732-1G>A) c.13729-1G>A (n.13729-1G>A) c.207-1G>A c.13714-1G>A (n.13714-1G>A) c.13744-1G>A (n.13744-1G>A) c.13660-1G>A (n.13660-1G>A) | |
| 19 | g.38572018G>C | CA405679845 | RYR1 | c.683-1G>C c.2080-1G>C c.2052-1G>C c.13747-1G>C (n.13747-1G>C) c.13732-1G>C (n.13732-1G>C) c.13729-1G>C (n.13729-1G>C) c.207-1G>C c.13714-1G>C (n.13714-1G>C) c.13744-1G>C (n.13744-1G>C) c.13660-1G>C (n.13660-1G>C) | |
| 19 | g.38572018G>T | CA405679861 | RYR1 | c.683-1G>T c.2080-1G>T c.2052-1G>T c.13747-1G>T (n.13747-1G>T) c.13732-1G>T (n.13732-1G>T) c.13729-1G>T (n.13729-1G>T) c.207-1G>T c.13714-1G>T (n.13714-1G>T) c.13744-1G>T (n.13744-1G>T) c.13660-1G>T (n.13660-1G>T) | |
| 19 | g.38572019G>A | CA060496 | RYR1 | c.683G>A c.2080G>A c.2052G>A c.13747G>A (p.Val4583Ile) c.13732G>A (p.Val4578Ile) c.13729G>A (p.Val4577Ile) c.207G>A c.13714G>A (p.Val4572Ile) c.13744G>A (p.Val4582Ile) c.13660G>A (p.Val4554Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38572019G>C | CA405679868 | RYR1 | c.683G>C c.2080G>C c.2052G>C c.13747G>C (p.Val4583Leu) c.13732G>C (p.Val4578Leu) c.13729G>C (p.Val4577Leu) c.207G>C c.13714G>C (p.Val4572Leu) c.13744G>C (p.Val4582Leu) c.13660G>C (p.Val4554Leu) | |
| 19 | g.38572019G= | CA2335088347 | RYR1 | c.683G= c.2080G= c.2052G= c.13747G= (p.Val4583=) c.13732G= (p.Val4578=) c.13729G= (p.Val4577=) c.207G= c.13714G= (p.Val4572=) c.13744G= (p.Val4582=) c.13660G= (p.Val4554=) | |
| 19 | g.38572019G>T | CA405679872 | RYR1 | c.683G>T c.2080G>T c.2052G>T c.13747G>T (p.Val4583Phe) c.13732G>T (p.Val4578Phe) c.13729G>T (p.Val4577Phe) c.207G>T c.13714G>T (p.Val4572Phe) c.13744G>T (p.Val4582Phe) c.13660G>T (p.Val4554Phe) | |
| 19 | g.38572020T>A | CA405679878 | RYR1 | c.684T>A c.2081T>A c.2053T>A c.13748T>A (p.Val4583Asp) c.13733T>A (p.Val4578Asp) c.13730T>A (p.Val4577Asp) c.208T>A c.13715T>A (p.Val4572Asp) c.13745T>A (p.Val4582Asp) c.13661T>A (p.Val4554Asp) | |
| 19 | g.38572020T>C | CA405679879 | RYR1 | c.684T>C c.2081T>C c.2053T>C c.13748T>C (p.Val4583Ala) c.13733T>C (p.Val4578Ala) c.13730T>C (p.Val4577Ala) c.208T>C c.13715T>C (p.Val4572Ala) c.13745T>C (p.Val4582Ala) c.13661T>C (p.Val4554Ala) | |
| 19 | g.38572020T>G | CA405679881 | RYR1 | c.684T>G c.2081T>G c.2053T>G c.13748T>G (p.Val4583Gly) c.13733T>G (p.Val4578Gly) c.13730T>G (p.Val4577Gly) c.208T>G c.13715T>G (p.Val4572Gly) c.13745T>G (p.Val4582Gly) c.13661T>G (p.Val4554Gly) | |
| 19 | g.38572021C>A | CA507355459 | RYR1 | c.685C>A c.2082C>A c.2054C>A c.13749C>A (p.Val4583=) c.13734C>A (p.Val4578=) c.13731C>A (p.Val4577=) c.209C>A c.13716C>A (p.Val4572=) c.13746C>A (p.Val4582=) c.13662C>A (p.Val4554=) | COSMIC |
| 19 | g.38572021C>G | CA507355460 | RYR1 | c.685C>G c.2082C>G c.2054C>G c.13749C>G (p.Val4583=) c.13734C>G (p.Val4578=) c.13731C>G (p.Val4577=) c.209C>G c.13716C>G (p.Val4572=) c.13746C>G (p.Val4582=) c.13662C>G (p.Val4554=) | |
| 19 | g.38572021C>T | CA507355461 | RYR1 | c.685C>T c.2082C>T c.2054C>T c.13749C>T (p.Val4583=) c.13734C>T (p.Val4578=) c.13731C>T (p.Val4577=) c.209C>T c.13716C>T (p.Val4572=) c.13746C>T (p.Val4582=) c.13662C>T (p.Val4554=) | gnomAD v4 |
| 19 | g.38572022T>A | CA405679885 | RYR1 | c.686T>A c.2083T>A c.2055T>A c.13750T>A (p.Ser4584Thr) c.13735T>A (p.Ser4579Thr) c.13732T>A (p.Ser4578Thr) c.210T>A c.13717T>A (p.Ser4573Thr) c.13747T>A (p.Ser4583Thr) c.13663T>A (p.Ser4555Thr) | |
| 19 | g.38572022T>C | CA405679900 | RYR1 | c.686T>C c.2083T>C c.2055T>C c.13750T>C (p.Ser4584Pro) c.13735T>C (p.Ser4579Pro) c.13732T>C (p.Ser4578Pro) c.210T>C c.13717T>C (p.Ser4573Pro) c.13747T>C (p.Ser4583Pro) c.13663T>C (p.Ser4555Pro) | |
| 19 | g.38572022T>G | CA405679886 | RYR1 | c.686T>G c.2083T>G c.2055T>G c.13750T>G (p.Ser4584Ala) c.13735T>G (p.Ser4579Ala) c.13732T>G (p.Ser4578Ala) c.210T>G c.13717T>G (p.Ser4573Ala) c.13747T>G (p.Ser4583Ala) c.13663T>G (p.Ser4555Ala) | |
| 19 | g.38572023C>A | CA405679905 | RYR1 | c.687C>A c.2084C>A c.2056C>A c.13751C>A (p.Ser4584Ter) c.13736C>A (p.Ser4579Ter) c.13733C>A (p.Ser4578Ter) c.211C>A c.13718C>A (p.Ser4573Ter) c.13748C>A (p.Ser4583Ter) c.13664C>A (p.Ser4555Ter) | |
| 19 | g.38572023C>G | CA405679908 | RYR1 | c.687C>G c.2084C>G c.2056C>G c.13751C>G (p.Ser4584Ter) c.13736C>G (p.Ser4579Ter) c.13733C>G (p.Ser4578Ter) c.211C>G c.13718C>G (p.Ser4573Ter) c.13748C>G (p.Ser4583Ter) c.13664C>G (p.Ser4555Ter) | |
| 19 | g.38572023C>T | CA405679917 | RYR1 | c.687C>T c.2084C>T c.2056C>T c.13751C>T (p.Ser4584Leu) c.13736C>T (p.Ser4579Leu) c.13733C>T (p.Ser4578Leu) c.211C>T c.13718C>T (p.Ser4573Leu) c.13748C>T (p.Ser4583Leu) c.13664C>T (p.Ser4555Leu) | |
| 19 | g.38572024A>C | CA507355466 | RYR1 | c.688A>C c.2085A>C c.2057A>C c.13752A>C (p.Ser4584=) c.13737A>C (p.Ser4579=) c.13734A>C (p.Ser4578=) c.212A>C c.13719A>C (p.Ser4573=) c.13749A>C (p.Ser4583=) c.13665A>C (p.Ser4555=) | |
| 19 | g.38572024A>G | CA507355468 | RYR1 | c.688A>G c.2085A>G c.2057A>G c.13752A>G (p.Ser4584=) c.13737A>G (p.Ser4579=) c.13734A>G (p.Ser4578=) c.212A>G c.13719A>G (p.Ser4573=) c.13749A>G (p.Ser4583=) c.13665A>G (p.Ser4555=) | ClinVar |
| 19 | g.38572024A>T | CA507355467 | RYR1 | c.688A>T c.2085A>T c.2057A>T c.13752A>T (p.Ser4584=) c.13737A>T (p.Ser4579=) c.13734A>T (p.Ser4578=) c.212A>T c.13719A>T (p.Ser4573=) c.13749A>T (p.Ser4583=) c.13665A>T (p.Ser4555=) | |
| 19 | g.38572025G>A | CA405679920 | RYR1 | c.689G>A c.2086G>A c.2058G>A c.13753G>A (p.Asp4585Asn) c.13738G>A (p.Asp4580Asn) c.13735G>A (p.Asp4579Asn) c.213G>A c.13720G>A (p.Asp4574Asn) c.13750G>A (p.Asp4584Asn) c.13666G>A (p.Asp4556Asn) | |
| 19 | g.38572025G>C | CA405679921 | RYR1 | c.689G>C c.2086G>C c.2058G>C c.13753G>C (p.Asp4585His) c.13738G>C (p.Asp4580His) c.13735G>C (p.Asp4579His) c.213G>C c.13720G>C (p.Asp4574His) c.13750G>C (p.Asp4584His) c.13666G>C (p.Asp4556His) | |
| 19 | g.38572025G>T | CA405679922 | RYR1 | c.689G>T c.2086G>T c.2058G>T c.13753G>T (p.Asp4585Tyr) c.13738G>T (p.Asp4580Tyr) c.13735G>T (p.Asp4579Tyr) c.213G>T c.13720G>T (p.Asp4574Tyr) c.13750G>T (p.Asp4584Tyr) c.13666G>T (p.Asp4556Tyr) | |
| 19 | g.38572026A= | CA2335088348 | RYR1 | c.690A= c.2087A= c.2059A= c.13754A= (p.Asp4585=) c.13739A= (p.Asp4580=) c.13736A= (p.Asp4579=) c.214A= c.13721A= (p.Asp4574=) c.13751A= (p.Asp4584=) c.13667A= (p.Asp4556=) | |
| 19 | g.38572026A>C | CA405679923 | RYR1 | c.690A>C c.2087A>C c.2059A>C c.13754A>C (p.Asp4585Ala) c.13739A>C (p.Asp4580Ala) c.13736A>C (p.Asp4579Ala) c.214A>C c.13721A>C (p.Asp4574Ala) c.13751A>C (p.Asp4584Ala) c.13667A>C (p.Asp4556Ala) | |
| 19 | g.38572026A>G | CA405679924 | RYR1 | c.690A>G c.2087A>G c.2059A>G c.13754A>G (p.Asp4585Gly) c.13739A>G (p.Asp4580Gly) c.13736A>G (p.Asp4579Gly) c.214A>G c.13721A>G (p.Asp4574Gly) c.13751A>G (p.Asp4584Gly) c.13667A>G (p.Asp4556Gly) | |
| 19 | g.38572026A>T | CA405679927 | RYR1 | c.690A>T c.2087A>T c.2059A>T c.13754A>T (p.Asp4585Val) c.13739A>T (p.Asp4580Val) c.13736A>T (p.Asp4579Val) c.214A>T c.13721A>T (p.Asp4574Val) c.13751A>T (p.Asp4584Val) c.13667A>T (p.Asp4556Val) | dbSNP |
| 19 | g.38572027C>A | CA405679931 | RYR1 | c.691C>A c.2088C>A c.2060C>A c.13755C>A (p.Asp4585Glu) c.13740C>A (p.Asp4580Glu) c.13737C>A (p.Asp4579Glu) c.215C>A c.13722C>A (p.Asp4574Glu) c.13752C>A (p.Asp4584Glu) c.13668C>A (p.Asp4556Glu) | |
| 19 | g.38572027C= | CA2335088349 | RYR1 | c.691C= c.2088C= c.2060C= c.13755C= (p.Asp4585=) c.13740C= (p.Asp4580=) c.13737C= (p.Asp4579=) c.215C= c.13722C= (p.Asp4574=) c.13752C= (p.Asp4584=) c.13668C= (p.Asp4556=) | |
| 19 | g.38572027C>G | CA405679937 | RYR1 | c.691C>G c.2088C>G c.2060C>G c.13755C>G (p.Asp4585Glu) c.13740C>G (p.Asp4580Glu) c.13737C>G (p.Asp4579Glu) c.215C>G c.13722C>G (p.Asp4574Glu) c.13752C>G (p.Asp4584Glu) c.13668C>G (p.Asp4556Glu) | gnomAD v4 |
| 19 | g.38572027C>T | CA507355472 | RYR1 | c.691C>T c.2088C>T c.2060C>T c.13755C>T (p.Asp4585=) c.13740C>T (p.Asp4580=) c.13737C>T (p.Asp4579=) c.215C>T c.13722C>T (p.Asp4574=) c.13752C>T (p.Asp4584=) c.13668C>T (p.Asp4556=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38572028T>A | CA405679945 | RYR1 | c.692T>A c.2089T>A c.2061T>A c.13756T>A (p.Ser4586Thr) c.13741T>A (p.Ser4581Thr) c.13738T>A (p.Ser4580Thr) c.216T>A c.13723T>A (p.Ser4575Thr) c.13753T>A (p.Ser4585Thr) c.13669T>A (p.Ser4557Thr) | |
| 19 | g.38572028T>C | CA405679946 | RYR1 | c.692T>C c.2089T>C c.2061T>C c.13756T>C (p.Ser4586Pro) c.13741T>C (p.Ser4581Pro) c.13738T>C (p.Ser4580Pro) c.216T>C c.13723T>C (p.Ser4575Pro) c.13753T>C (p.Ser4585Pro) c.13669T>C (p.Ser4557Pro) | ClinVar dbSNP |
| 19 | g.38572028T>G | CA405679942 | RYR1 | c.692T>G c.2089T>G c.2061T>G c.13756T>G (p.Ser4586Ala) c.13741T>G (p.Ser4581Ala) c.13738T>G (p.Ser4580Ala) c.216T>G c.13723T>G (p.Ser4575Ala) c.13753T>G (p.Ser4585Ala) c.13669T>G (p.Ser4557Ala) | |
| 19 | g.38572028T= | CA2335088350 | RYR1 | c.692T= c.2089T= c.2061T= c.13756T= (p.Ser4586=) c.13741T= (p.Ser4581=) c.13738T= (p.Ser4580=) c.216T= c.13723T= (p.Ser4575=) c.13753T= (p.Ser4585=) c.13669T= (p.Ser4557=) | |
| 19 | g.38572029C>A | CA405679947 | RYR1 | c.693C>A c.2090C>A c.2062C>A c.13757C>A (p.Ser4586Tyr) c.13742C>A (p.Ser4581Tyr) c.13739C>A (p.Ser4580Tyr) c.217C>A c.13724C>A (p.Ser4575Tyr) c.13754C>A (p.Ser4585Tyr) c.13670C>A (p.Ser4557Tyr) | |
| 19 | g.38572029C= | CA2335088351 | RYR1 | c.693C= c.2090C= c.2062C= c.13757C= (p.Ser4586=) c.13742C= (p.Ser4581=) c.13739C= (p.Ser4580=) c.217C= c.13724C= (p.Ser4575=) c.13754C= (p.Ser4585=) c.13670C= (p.Ser4557=) | |
| 19 | g.38572029C>G | CA405679948 | RYR1 | c.693C>G c.2090C>G c.2062C>G c.13757C>G (p.Ser4586Cys) c.13742C>G (p.Ser4581Cys) c.13739C>G (p.Ser4580Cys) c.217C>G c.13724C>G (p.Ser4575Cys) c.13754C>G (p.Ser4585Cys) c.13670C>G (p.Ser4557Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38572029C>T | CA405679949 | RYR1 | c.693C>T c.2090C>T c.2062C>T c.13757C>T (p.Ser4586Phe) c.13742C>T (p.Ser4581Phe) c.13739C>T (p.Ser4580Phe) c.217C>T c.13724C>T (p.Ser4575Phe) c.13754C>T (p.Ser4585Phe) c.13670C>T (p.Ser4557Phe) | |
| 19 | g.38572030T>A | CA507355477 | RYR1 | c.694T>A c.2091T>A c.2063T>A c.13758T>A (p.Ser4586=) c.13743T>A (p.Ser4581=) c.13740T>A (p.Ser4580=) c.218T>A c.13725T>A (p.Ser4575=) c.13755T>A (p.Ser4585=) c.13671T>A (p.Ser4557=) | |
| 19 | g.38572030T>C | CA507355478 | RYR1 | c.694T>C c.2091T>C c.2063T>C c.13758T>C (p.Ser4586=) c.13743T>C (p.Ser4581=) c.13740T>C (p.Ser4580=) c.218T>C c.13725T>C (p.Ser4575=) c.13755T>C (p.Ser4585=) c.13671T>C (p.Ser4557=) | |
| 19 | g.38572030T>G | CA507355479 | RYR1 | c.694T>G c.2091T>G c.2063T>G c.13758T>G (p.Ser4586=) c.13743T>G (p.Ser4581=) c.13740T>G (p.Ser4580=) c.218T>G c.13725T>G (p.Ser4575=) c.13755T>G (p.Ser4585=) c.13671T>G (p.Ser4557=) | |
| 19 | g.38572031C>A | CA405679951 | RYR1 | c.695C>A c.2092C>A c.2064C>A c.13759C>A (p.Pro4587Thr) c.13744C>A (p.Pro4582Thr) c.13741C>A (p.Pro4581Thr) c.219C>A c.13726C>A (p.Pro4576Thr) c.13756C>A (p.Pro4586Thr) c.13672C>A (p.Pro4558Thr) | |
| 19 | g.38572031C>G | CA080989 | RYR1 | c.695C>G c.2092C>G c.2064C>G c.13759C>G (p.Pro4587Ala) c.13744C>G (p.Pro4582Ala) c.13741C>G (p.Pro4581Ala) c.219C>G c.13726C>G (p.Pro4576Ala) c.13756C>G (p.Pro4586Ala) c.13672C>G (p.Pro4558Ala) | |
| 19 | g.38572031C>T | CA080990 | RYR1 | c.695C>T c.2092C>T c.2064C>T c.13759C>T (p.Pro4587Ser) c.13744C>T (p.Pro4582Ser) c.13741C>T (p.Pro4581Ser) c.219C>T c.13726C>T (p.Pro4576Ser) c.13756C>T (p.Pro4586Ser) c.13672C>T (p.Pro4558Ser) | |
| 19 | g.38572032C>A | CA405679973 | RYR1 | c.696C>A c.2093C>A c.2065C>A c.13760C>A (p.Pro4587Gln) c.13745C>A (p.Pro4582Gln) c.13742C>A (p.Pro4581Gln) c.220C>A c.13727C>A (p.Pro4576Gln) c.13757C>A (p.Pro4586Gln) c.13673C>A (p.Pro4558Gln) | |
| 19 | g.38572032C= | CA2335088352 | RYR1 | c.696C= c.2093C= c.2065C= c.13760C= (p.Pro4587=) c.13745C= (p.Pro4582=) c.13742C= (p.Pro4581=) c.220C= c.13727C= (p.Pro4576=) c.13757C= (p.Pro4586=) c.13673C= (p.Pro4558=) | |
| 19 | g.38572032C>G | CA405679960 | RYR1 | c.696C>G c.2093C>G c.2065C>G c.13760C>G (p.Pro4587Arg) c.13745C>G (p.Pro4582Arg) c.13742C>G (p.Pro4581Arg) c.220C>G c.13727C>G (p.Pro4576Arg) c.13757C>G (p.Pro4586Arg) c.13673C>G (p.Pro4558Arg) | |
| 19 | g.38572032C>T | CA024070 | RYR1 | c.696C>T c.2093C>T c.2065C>T c.13760C>T (p.Pro4587Leu) c.13745C>T (p.Pro4582Leu) c.13742C>T (p.Pro4581Leu) c.220C>T c.13727C>T (p.Pro4576Leu) c.13757C>T (p.Pro4586Leu) c.13673C>T (p.Pro4558Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38572033A>C | CA507355483 | RYR1 | c.697A>C c.2094A>C c.2066A>C c.13761A>C (p.Pro4587=) c.13746A>C (p.Pro4582=) c.13743A>C (p.Pro4581=) c.221A>C c.13728A>C (p.Pro4576=) c.13758A>C (p.Pro4586=) c.13674A>C (p.Pro4558=) | |
| 19 | g.38572033A>G | CA507355484 | RYR1 | c.697A>G c.2094A>G c.2066A>G c.13761A>G (p.Pro4587=) c.13746A>G (p.Pro4582=) c.13743A>G (p.Pro4581=) c.221A>G c.13728A>G (p.Pro4576=) c.13758A>G (p.Pro4586=) c.13674A>G (p.Pro4558=) | |
| 19 | g.38572033A>T | CA507355486 | RYR1 | c.697A>T c.2094A>T c.2066A>T c.13761A>T (p.Pro4587=) c.13746A>T (p.Pro4582=) c.13743A>T (p.Pro4581=) c.221A>T c.13728A>T (p.Pro4576=) c.13758A>T (p.Pro4586=) c.13674A>T (p.Pro4558=) | |
| 19 | g.38572034C>A | CA405679978 | RYR1 | c.698C>A c.2095C>A c.2067C>A c.13762C>A (p.Pro4588Thr) c.13747C>A (p.Pro4583Thr) c.13744C>A (p.Pro4582Thr) c.222C>A c.13729C>A (p.Pro4577Thr) c.13759C>A (p.Pro4587Thr) c.13675C>A (p.Pro4559Thr) | |
| 19 | g.38572034C>G | CA405679980 | RYR1 | c.698C>G c.2095C>G c.2067C>G c.13762C>G (p.Pro4588Ala) c.13747C>G (p.Pro4583Ala) c.13744C>G (p.Pro4582Ala) c.222C>G c.13729C>G (p.Pro4577Ala) c.13759C>G (p.Pro4587Ala) c.13675C>G (p.Pro4559Ala) | |
| 19 | g.38572034C>T | CA405679986 | RYR1 | c.698C>T c.2095C>T c.2067C>T c.13762C>T (p.Pro4588Ser) c.13747C>T (p.Pro4583Ser) c.13744C>T (p.Pro4582Ser) c.222C>T c.13729C>T (p.Pro4577Ser) c.13759C>T (p.Pro4587Ser) c.13675C>T (p.Pro4559Ser) | ClinVar dbSNP |
| 19 | g.38572035C>A | CA405679989 | RYR1 | c.699C>A c.2096C>A c.2068C>A c.13763C>A (p.Pro4588Gln) c.13748C>A (p.Pro4583Gln) c.13745C>A (p.Pro4582Gln) c.223C>A c.13730C>A (p.Pro4577Gln) c.13760C>A (p.Pro4587Gln) c.13676C>A (p.Pro4559Gln) | |
| 19 | g.38572035C>G | CA405679992 | RYR1 | c.699C>G c.2096C>G c.2068C>G c.13763C>G (p.Pro4588Arg) c.13748C>G (p.Pro4583Arg) c.13745C>G (p.Pro4582Arg) c.223C>G c.13730C>G (p.Pro4577Arg) c.13760C>G (p.Pro4587Arg) c.13676C>G (p.Pro4559Arg) | |
| 19 | g.38572035C>T | CA081005 | RYR1 | c.699C>T c.2096C>T c.2068C>T c.13763C>T (p.Pro4588Leu) c.13748C>T (p.Pro4583Leu) c.13745C>T (p.Pro4582Leu) c.223C>T c.13730C>T (p.Pro4577Leu) c.13760C>T (p.Pro4587Leu) c.13676C>T (p.Pro4559Leu) | |
| 19 | g.38572035_38572036delinsCA | CA2335088353 | RYR1 | c.699_700delinsCA c.2096_2097delinsCA c.2068_2069delinsCA c.13763_13764delinsCA (p.Pro4588=) c.13748_13749delinsCA (p.Pro4583=) c.13745_13746delinsCA (p.Pro4582=) c.223_224delinsCA c.13730_13731delinsCA (p.Pro4577=) c.13760_13761delinsCA (p.Pro4587=) c.13676_13677delinsCA (p.Pro4559=) | |
| 19 | g.38572036del | CA658799218 | RYR1 | c.700del c.2097del c.2069del c.13764del (p.Glu4590ArgfsTer?) c.13749del (p.Glu4585ArgfsTer?) c.13746del (p.Glu4584ArgfsTer?) c.224del c.13731del (p.Glu4579ArgfsTer?) c.13761del (p.Glu4589ArgfsTer?) c.13677del (p.Glu4561ArgfsTer?) | ClinVar dbSNP |
| 19 | g.38572036A= | CA2335088354 | RYR1 | c.700A= c.2097A= c.2069A= c.13764A= (p.Pro4588=) c.13749A= (p.Pro4583=) c.13746A= (p.Pro4582=) c.224A= c.13731A= (p.Pro4577=) c.13761A= (p.Pro4587=) c.13677A= (p.Pro4559=) | |
| 19 | g.38572036A>C | CA507355488 | RYR1 | c.700A>C c.2097A>C c.2069A>C c.13764A>C (p.Pro4588=) c.13749A>C (p.Pro4583=) c.13746A>C (p.Pro4582=) c.224A>C c.13731A>C (p.Pro4577=) c.13761A>C (p.Pro4587=) c.13677A>C (p.Pro4559=) | |
| 19 | g.38572036A>G | CA507355489 | RYR1 | c.700A>G c.2097A>G c.2069A>G c.13764A>G (p.Pro4588=) c.13749A>G (p.Pro4583=) c.13746A>G (p.Pro4582=) c.224A>G c.13731A>G (p.Pro4577=) c.13761A>G (p.Pro4587=) c.13677A>G (p.Pro4559=) | dbSNP |
| 19 | g.38572036A>T | CA507355490 | RYR1 | c.700A>T c.2097A>T c.2069A>T c.13764A>T (p.Pro4588=) c.13749A>T (p.Pro4583=) c.13746A>T (p.Pro4582=) c.224A>T c.13731A>T (p.Pro4577=) c.13761A>T (p.Pro4587=) c.13677A>T (p.Pro4559=) | |
| 19 | g.38572037G>A | CA405679996 | RYR1 | c.701G>A c.2098G>A c.2070G>A c.13765G>A (p.Gly4589Arg) c.13750G>A (p.Gly4584Arg) c.13747G>A (p.Gly4583Arg) c.225G>A c.13732G>A (p.Gly4578Arg) c.13762G>A (p.Gly4588Arg) c.13678G>A (p.Gly4560Arg) | |
| 19 | g.38572037G>C | CA405680017 | RYR1 | c.701G>C c.2098G>C c.2070G>C c.13765G>C (p.Gly4589Arg) c.13750G>C (p.Gly4584Arg) c.13747G>C (p.Gly4583Arg) c.225G>C c.13732G>C (p.Gly4578Arg) c.13762G>C (p.Gly4588Arg) c.13678G>C (p.Gly4560Arg) | |
| 19 | g.38572037G>T | CA405680007 | RYR1 | c.701G>T c.2098G>T c.2070G>T c.13765G>T (p.Gly4589Trp) c.13750G>T (p.Gly4584Trp) c.13747G>T (p.Gly4583Trp) c.225G>T c.13732G>T (p.Gly4578Trp) c.13762G>T (p.Gly4588Trp) c.13678G>T (p.Gly4560Trp) | |
| 19 | g.38572040del | CA645613548 | RYR1 | c.704del c.2101del c.2073del c.13768del (p.Glu4590ArgfsTer?) c.13753del (p.Glu4585ArgfsTer?) c.13750del (p.Glu4584ArgfsTer?) c.228del c.13735del (p.Glu4579ArgfsTer?) c.13765del (p.Glu4589ArgfsTer?) c.13681del (p.Glu4561ArgfsTer?) | COSMIC |
| 19 | g.38572037_38572041delinsGGGGA | CA2335088355 | RYR1 | c.701_705delinsGGGGA c.2098_2102delinsGGGGA c.2070_2074delinsGGGGA c.13765_13769delinsGGGGA (p.Gly4589=) c.13750_13754delinsGGGGA (p.Gly4584=) c.13747_13751delinsGGGGA (p.Gly4583=) c.225_229delinsGGGGA c.13732_13736delinsGGGGA (p.Gly4578=) c.13762_13766delinsGGGGA (p.Gly4588=) c.13678_13682delinsGGGGA (p.Gly4560=) | |
| 19 | g.38572038G>A | CA060516 | RYR1 | c.702G>A c.2099G>A c.2071G>A c.13766G>A (p.Gly4589Glu) c.13751G>A (p.Gly4584Glu) c.13748G>A (p.Gly4583Glu) c.226G>A c.13733G>A (p.Gly4578Glu) c.13763G>A (p.Gly4588Glu) c.13679G>A (p.Gly4560Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38572038G>C | CA405680022 | RYR1 | c.702G>C c.2099G>C c.2071G>C c.13766G>C (p.Gly4589Ala) c.13751G>C (p.Gly4584Ala) c.13748G>C (p.Gly4583Ala) c.226G>C c.13733G>C (p.Gly4578Ala) c.13763G>C (p.Gly4588Ala) c.13679G>C (p.Gly4560Ala) | ClinVar |
| 19 | g.38572038G= | CA2335088356 | RYR1 | c.702G= c.2099G= c.2071G= c.13766G= (p.Gly4589=) c.13751G= (p.Gly4584=) c.13748G= (p.Gly4583=) c.226G= c.13733G= (p.Gly4578=) c.13763G= (p.Gly4588=) c.13679G= (p.Gly4560=) | |
| 19 | g.38572038G>T | CA405680028 | RYR1 | c.702G>T c.2099G>T c.2071G>T c.13766G>T (p.Gly4589Val) c.13751G>T (p.Gly4584Val) c.13748G>T (p.Gly4583Val) c.226G>T c.13733G>T (p.Gly4578Val) c.13763G>T (p.Gly4588Val) c.13679G>T (p.Gly4560Val) | |
| 19 | g.38572040_38572043del | CA060512 | RYR1 | c.704_707del c.2101_2104del c.2073_2076del c.13768_13771del (p.Glu4590ThrfsTer?) c.13753_13756del (p.Glu4585ThrfsTer?) c.13750_13753del (p.Glu4584ThrfsTer?) c.228_231del c.13735_13738del (p.Glu4579ThrfsTer?) c.13765_13768del (p.Glu4589ThrfsTer?) c.13681_13684del (p.Glu4561ThrfsTer?) | dbSNP ExAC gnomAD v2 |
| 19 | g.38572039G>A | CA507355493 | RYR1 | c.703G>A c.2100G>A c.2072G>A c.13767G>A (p.Gly4589=) c.13752G>A (p.Gly4584=) c.13749G>A (p.Gly4583=) c.227G>A c.13734G>A (p.Gly4578=) c.13764G>A (p.Gly4588=) c.13680G>A (p.Gly4560=) | COSMIC |
| 19 | g.38572039G>C | CA507355496 | RYR1 | c.703G>C c.2100G>C c.2072G>C c.13767G>C (p.Gly4589=) c.13752G>C (p.Gly4584=) c.13749G>C (p.Gly4583=) c.227G>C c.13734G>C (p.Gly4578=) c.13764G>C (p.Gly4588=) c.13680G>C (p.Gly4560=) | |
| 19 | g.38572039G>T | CA507355498 | RYR1 | c.703G>T c.2100G>T c.2072G>T c.13767G>T (p.Gly4589=) c.13752G>T (p.Gly4584=) c.13749G>T (p.Gly4583=) c.227G>T c.13734G>T (p.Gly4578=) c.13764G>T (p.Gly4588=) c.13680G>T (p.Gly4560=) | gnomAD v4 |
| 19 | g.38572040G>A | CA060522 | RYR1 | c.704G>A c.2101G>A c.2073G>A c.13768G>A (p.Glu4590Lys) c.13753G>A (p.Glu4585Lys) c.13750G>A (p.Glu4584Lys) c.228G>A c.13735G>A (p.Glu4579Lys) c.13765G>A (p.Glu4589Lys) c.13681G>A (p.Glu4561Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38572040G>C | CA405680038 | RYR1 | c.704G>C c.2101G>C c.2073G>C c.13768G>C (p.Glu4590Gln) c.13753G>C (p.Glu4585Gln) c.13750G>C (p.Glu4584Gln) c.228G>C c.13735G>C (p.Glu4579Gln) c.13765G>C (p.Glu4589Gln) c.13681G>C (p.Glu4561Gln) | |
| 19 | g.38572040G= | CA2335088357 | RYR1 | c.704G= c.2101G= c.2073G= c.13768G= (p.Glu4590=) c.13753G= (p.Glu4585=) c.13750G= (p.Glu4584=) c.228G= c.13735G= (p.Glu4579=) c.13765G= (p.Glu4589=) c.13681G= (p.Glu4561=) | |
| 19 | g.38572040G>T | CA405680040 | RYR1 | c.704G>T c.2101G>T c.2073G>T c.13768G>T (p.Glu4590Ter) c.13753G>T (p.Glu4585Ter) c.13750G>T (p.Glu4584Ter) c.228G>T c.13735G>T (p.Glu4579Ter) c.13765G>T (p.Glu4589Ter) c.13681G>T (p.Glu4561Ter) | |
| 19 | g.38572041A= | CA2335088358 | RYR1 | c.705A= c.2102A= c.2074A= c.13769A= (p.Glu4590=) c.13754A= (p.Glu4585=) c.13751A= (p.Glu4584=) c.229A= c.13736A= (p.Glu4579=) c.13766A= (p.Glu4589=) c.13682A= (p.Glu4561=) | |
| 19 | g.38572041A>C | CA405680044 | RYR1 | c.705A>C c.2102A>C c.2074A>C c.13769A>C (p.Glu4590Ala) c.13754A>C (p.Glu4585Ala) c.13751A>C (p.Glu4584Ala) c.229A>C c.13736A>C (p.Glu4579Ala) c.13766A>C (p.Glu4589Ala) c.13682A>C (p.Glu4561Ala) | dbSNP |
| 19 | g.38572041A>G | CA405680047 | RYR1 | c.705A>G c.2102A>G c.2074A>G c.13769A>G (p.Glu4590Gly) c.13754A>G (p.Glu4585Gly) c.13751A>G (p.Glu4584Gly) c.229A>G c.13736A>G (p.Glu4579Gly) c.13766A>G (p.Glu4589Gly) c.13682A>G (p.Glu4561Gly) | |
| 19 | g.38572041A>T | CA405680048 | RYR1 | c.705A>T c.2102A>T c.2074A>T c.13769A>T (p.Glu4590Val) c.13754A>T (p.Glu4585Val) c.13751A>T (p.Glu4584Val) c.229A>T c.13736A>T (p.Glu4579Val) c.13766A>T (p.Glu4589Val) c.13682A>T (p.Glu4561Val) | |
| 19 | g.38572042G>A | CA507355500 | RYR1 | c.706G>A c.2103G>A c.2075G>A c.13770G>A (p.Glu4590=) c.13755G>A (p.Glu4585=) c.13752G>A (p.Glu4584=) c.230G>A c.13737G>A (p.Glu4579=) c.13767G>A (p.Glu4589=) c.13683G>A (p.Glu4561=) | gnomAD v4 |
| 19 | g.38572042G>C | CA405680056 | RYR1 | c.706G>C c.2103G>C c.2075G>C c.13770G>C (p.Glu4590Asp) c.13755G>C (p.Glu4585Asp) c.13752G>C (p.Glu4584Asp) c.230G>C c.13737G>C (p.Glu4579Asp) c.13767G>C (p.Glu4589Asp) c.13683G>C (p.Glu4561Asp) | |
| 19 | g.38572042G>T | CA405680061 | RYR1 | c.706G>T c.2103G>T c.2075G>T c.13770G>T (p.Glu4590Asp) c.13755G>T (p.Glu4585Asp) c.13752G>T (p.Glu4584Asp) c.230G>T c.13737G>T (p.Glu4579Asp) c.13767G>T (p.Glu4589Asp) c.13683G>T (p.Glu4561Asp) | |
| 19 | g.38572043G>A | CA081008 | RYR1 | c.707G>A c.2104G>A c.2076G>A c.13771G>A (p.Asp4591Asn) c.13756G>A (p.Asp4586Asn) c.13753G>A (p.Asp4585Asn) c.231G>A c.13738G>A (p.Asp4580Asn) c.13768G>A (p.Asp4590Asn) c.13684G>A (p.Asp4562Asn) | |
| 19 | g.38572043G>C | CA405680073 | RYR1 | c.707G>C c.2104G>C c.2076G>C c.13771G>C (p.Asp4591His) c.13756G>C (p.Asp4586His) c.13753G>C (p.Asp4585His) c.231G>C c.13738G>C (p.Asp4580His) c.13768G>C (p.Asp4590His) c.13684G>C (p.Asp4562His) | |
| 19 | g.38572043G>T | CA405680070 | RYR1 | c.707G>T c.2104G>T c.2076G>T c.13771G>T (p.Asp4591Tyr) c.13756G>T (p.Asp4586Tyr) c.13753G>T (p.Asp4585Tyr) c.231G>T c.13738G>T (p.Asp4580Tyr) c.13768G>T (p.Asp4590Tyr) c.13684G>T (p.Asp4562Tyr) | |
| 19 | g.38572044A>C | CA405680076 | RYR1 | c.708A>C c.2105A>C c.2077A>C c.13772A>C (p.Asp4591Ala) c.13757A>C (p.Asp4586Ala) c.13754A>C (p.Asp4585Ala) c.232A>C c.13739A>C (p.Asp4580Ala) c.13769A>C (p.Asp4590Ala) c.13685A>C (p.Asp4562Ala) | |
| 19 | g.38572044A>G | CA405680086 | RYR1 | c.708A>G c.2105A>G c.2077A>G c.13772A>G (p.Asp4591Gly) c.13757A>G (p.Asp4586Gly) c.13754A>G (p.Asp4585Gly) c.232A>G c.13739A>G (p.Asp4580Gly) c.13769A>G (p.Asp4590Gly) c.13685A>G (p.Asp4562Gly) | |
| 19 | g.38572044A>T | CA405680082 | RYR1 | c.708A>T c.2105A>T c.2077A>T c.13772A>T (p.Asp4591Val) c.13757A>T (p.Asp4586Val) c.13754A>T (p.Asp4585Val) c.232A>T c.13739A>T (p.Asp4580Val) c.13769A>T (p.Asp4590Val) c.13685A>T (p.Asp4562Val) | |
| 19 | g.38572045C>A | CA405680088 | RYR1 | c.709C>A c.2106C>A c.2078C>A c.13773C>A (p.Asp4591Glu) c.13758C>A (p.Asp4586Glu) c.13755C>A (p.Asp4585Glu) c.233C>A c.13740C>A (p.Asp4580Glu) c.13770C>A (p.Asp4590Glu) c.13686C>A (p.Asp4562Glu) | |
| 19 | g.38572045C= | CA2335088359 | RYR1 | c.709C= c.2106C= c.2078C= c.13773C= (p.Asp4591=) c.13758C= (p.Asp4586=) c.13755C= (p.Asp4585=) c.233C= c.13740C= (p.Asp4580=) c.13770C= (p.Asp4590=) c.13686C= (p.Asp4562=) | |
| 19 | g.38572045C>G | CA405680100 | RYR1 | c.709C>G c.2106C>G c.2078C>G c.13773C>G (p.Asp4591Glu) c.13758C>G (p.Asp4586Glu) c.13755C>G (p.Asp4585Glu) c.233C>G c.13740C>G (p.Asp4580Glu) c.13770C>G (p.Asp4590Glu) c.13686C>G (p.Asp4562Glu) | |
| 19 | g.38572045C>T | CA060524 | RYR1 | c.709C>T c.2106C>T c.2078C>T c.13773C>T (p.Asp4591=) c.13758C>T (p.Asp4586=) c.13755C>T (p.Asp4585=) c.233C>T c.13740C>T (p.Asp4580=) c.13770C>T (p.Asp4590=) c.13686C>T (p.Asp4562=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38572046G>A | CA308114034 | RYR1 | c.710G>A c.2107G>A c.2079G>A c.13774G>A (p.Asp4592Asn) c.13759G>A (p.Asp4587Asn) c.13756G>A (p.Asp4586Asn) c.234G>A c.13741G>A (p.Asp4581Asn) c.13771G>A (p.Asp4591Asn) c.13687G>A (p.Asp4563Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38572046G>C | CA405680105 | RYR1 | c.710G>C c.2107G>C c.2079G>C c.13774G>C (p.Asp4592His) c.13759G>C (p.Asp4587His) c.13756G>C (p.Asp4586His) c.234G>C c.13741G>C (p.Asp4581His) c.13771G>C (p.Asp4591His) c.13687G>C (p.Asp4563His) | gnomAD v4 |
| 19 | g.38572046G= | CA2335088360 | RYR1 | c.710G= c.2107G= c.2079G= c.13774G= (p.Asp4592=) c.13759G= (p.Asp4587=) c.13756G= (p.Asp4586=) c.234G= c.13741G= (p.Asp4581=) c.13771G= (p.Asp4591=) c.13687G= (p.Asp4563=) | |
| 19 | g.38572046G>T | CA405680106 | RYR1 | c.710G>T c.2107G>T c.2079G>T c.13774G>T (p.Asp4592Tyr) c.13759G>T (p.Asp4587Tyr) c.13756G>T (p.Asp4586Tyr) c.234G>T c.13741G>T (p.Asp4581Tyr) c.13771G>T (p.Asp4591Tyr) c.13687G>T (p.Asp4563Tyr) | dbSNP |
| 19 | g.38572047A>C | CA405680108 | RYR1 | c.711A>C c.2108A>C c.2080A>C c.13775A>C (p.Asp4592Ala) c.13760A>C (p.Asp4587Ala) c.13757A>C (p.Asp4586Ala) c.235A>C c.13742A>C (p.Asp4581Ala) c.13772A>C (p.Asp4591Ala) c.13688A>C (p.Asp4563Ala) | |
| 19 | g.38572047A>G | CA405680109 | RYR1 | c.711A>G c.2108A>G c.2080A>G c.13775A>G (p.Asp4592Gly) c.13760A>G (p.Asp4587Gly) c.13757A>G (p.Asp4586Gly) c.235A>G c.13742A>G (p.Asp4581Gly) c.13772A>G (p.Asp4591Gly) c.13688A>G (p.Asp4563Gly) | gnomAD v4 |
| 19 | g.38572047A>T | CA405680128 | RYR1 | c.711A>T c.2108A>T c.2080A>T c.13775A>T (p.Asp4592Val) c.13760A>T (p.Asp4587Val) c.13757A>T (p.Asp4586Val) c.235A>T c.13742A>T (p.Asp4581Val) c.13772A>T (p.Asp4591Val) c.13688A>T (p.Asp4563Val) | |
| 19 | g.38572048C>A | CA405680131 | RYR1 | c.712C>A c.2109C>A c.2081C>A c.13776C>A (p.Asp4592Glu) c.13761C>A (p.Asp4587Glu) c.13758C>A (p.Asp4586Glu) c.236C>A c.13743C>A (p.Asp4581Glu) c.13773C>A (p.Asp4591Glu) c.13689C>A (p.Asp4563Glu) | |
| 19 | g.38572048C= | CA2335088361 | RYR1 | c.712C= c.2109C= c.2081C= c.13776C= (p.Asp4592=) c.13761C= (p.Asp4587=) c.13758C= (p.Asp4586=) c.236C= c.13743C= (p.Asp4581=) c.13773C= (p.Asp4591=) c.13689C= (p.Asp4563=) | |
| 19 | g.38572048C>G | CA405680138 | RYR1 | c.712C>G c.2109C>G c.2081C>G c.13776C>G (p.Asp4592Glu) c.13761C>G (p.Asp4587Glu) c.13758C>G (p.Asp4586Glu) c.236C>G c.13743C>G (p.Asp4581Glu) c.13773C>G (p.Asp4591Glu) c.13689C>G (p.Asp4563Glu) | |
| 19 | g.38572048C>T | CA060531 | RYR1 | c.712C>T c.2109C>T c.2081C>T c.13776C>T (p.Asp4592=) c.13761C>T (p.Asp4587=) c.13758C>T (p.Asp4586=) c.236C>T c.13743C>T (p.Asp4581=) c.13773C>T (p.Asp4591=) c.13689C>T (p.Asp4563=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38572049A= | CA2335088362 | RYR1 | c.713A= c.2110A= c.2082A= c.13777A= (p.Met4593=) c.13762A= (p.Met4588=) c.13759A= (p.Met4587=) c.237A= c.13744A= (p.Met4582=) c.13774A= (p.Met4592=) c.13690A= (p.Met4564=) | |
| 19 | g.38572049A>C | CA405680146 | RYR1 | c.713A>C c.2110A>C c.2082A>C c.13777A>C (p.Met4593Leu) c.13762A>C (p.Met4588Leu) c.13759A>C (p.Met4587Leu) c.237A>C c.13744A>C (p.Met4582Leu) c.13774A>C (p.Met4592Leu) c.13690A>C (p.Met4564Leu) | |
| 19 | g.38572049A>G | CA405680150 | RYR1 | c.713A>G c.2110A>G c.2082A>G c.13777A>G (p.Met4593Val) c.13762A>G (p.Met4588Val) c.13759A>G (p.Met4587Val) c.237A>G c.13744A>G (p.Met4582Val) c.13774A>G (p.Met4592Val) c.13690A>G (p.Met4564Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38572049A>T | CA405680152 | RYR1 | c.713A>T c.2110A>T c.2082A>T c.13777A>T (p.Met4593Leu) c.13762A>T (p.Met4588Leu) c.13759A>T (p.Met4587Leu) c.237A>T c.13744A>T (p.Met4582Leu) c.13774A>T (p.Met4592Leu) c.13690A>T (p.Met4564Leu) | |
| 19 | g.38572050T>A | CA405680164 | RYR1 | c.714T>A c.2111T>A c.2083T>A c.13778T>A (p.Met4593Lys) c.13763T>A (p.Met4588Lys) c.13760T>A (p.Met4587Lys) c.238T>A c.13745T>A (p.Met4582Lys) c.13775T>A (p.Met4592Lys) c.13691T>A (p.Met4564Lys) | |
| 19 | g.38572050T>C | CA405680157 | RYR1 | c.714T>C c.2111T>C c.2083T>C c.13778T>C (p.Met4593Thr) c.13763T>C (p.Met4588Thr) c.13760T>C (p.Met4587Thr) c.238T>C c.13745T>C (p.Met4582Thr) c.13775T>C (p.Met4592Thr) c.13691T>C (p.Met4564Thr) | |
| 19 | g.38572050T>G | CA405680161 | RYR1 | c.714T>G c.2111T>G c.2083T>G c.13778T>G (p.Met4593Arg) c.13763T>G (p.Met4588Arg) c.13760T>G (p.Met4587Arg) c.238T>G c.13745T>G (p.Met4582Arg) c.13775T>G (p.Met4592Arg) c.13691T>G (p.Met4564Arg) | |
| 19 | g.38572051G>A | CA405680168 | RYR1 | c.715G>A c.2112G>A c.2084G>A c.13779G>A (p.Met4593Ile) c.13764G>A (p.Met4588Ile) c.13761G>A (p.Met4587Ile) c.239G>A c.13746G>A (p.Met4582Ile) c.13776G>A (p.Met4592Ile) c.13692G>A (p.Met4564Ile) | gnomAD v4 |
| 19 | g.38572051G>C | CA405680169 | RYR1 | c.715G>C c.2112G>C c.2084G>C c.13779G>C (p.Met4593Ile) c.13764G>C (p.Met4588Ile) c.13761G>C (p.Met4587Ile) c.239G>C c.13746G>C (p.Met4582Ile) c.13776G>C (p.Met4592Ile) c.13692G>C (p.Met4564Ile) | |
| 19 | g.38572051G>T | CA405680171 | RYR1 | c.715G>T c.2112G>T c.2084G>T c.13779G>T (p.Met4593Ile) c.13764G>T (p.Met4588Ile) c.13761G>T (p.Met4587Ile) c.239G>T c.13746G>T (p.Met4582Ile) c.13776G>T (p.Met4592Ile) c.13692G>T (p.Met4564Ile) | |
| 19 | g.38572052dup | CA2573156353 | RYR1 | c.716dup c.2113dup c.2085dup c.13780dup (p.Glu4594GlyfsTer?) c.13765dup (p.Glu4589GlyfsTer?) c.13762dup (p.Glu4588GlyfsTer?) c.240dup c.13747dup (p.Glu4583GlyfsTer?) c.13777dup (p.Glu4593GlyfsTer?) c.13693dup (p.Glu4565GlyfsTer?) | ClinVar dbSNP |
| 19 | g.38572052G>A | CA405680173 | RYR1 | c.716G>A c.2113G>A c.2085G>A c.13780G>A (p.Glu4594Lys) c.13765G>A (p.Glu4589Lys) c.13762G>A (p.Glu4588Lys) c.240G>A c.13747G>A (p.Glu4583Lys) c.13777G>A (p.Glu4593Lys) c.13693G>A (p.Glu4565Lys) | |
| 19 | g.38572052G>C | CA405680175 | RYR1 | c.716G>C c.2113G>C c.2085G>C c.13780G>C (p.Glu4594Gln) c.13765G>C (p.Glu4589Gln) c.13762G>C (p.Glu4588Gln) c.240G>C c.13747G>C (p.Glu4583Gln) c.13777G>C (p.Glu4593Gln) c.13693G>C (p.Glu4565Gln) | |
| 19 | g.38572052G>T | CA405680178 | RYR1 | c.716G>T c.2113G>T c.2085G>T c.13780G>T (p.Glu4594Ter) c.13765G>T (p.Glu4589Ter) c.13762G>T (p.Glu4588Ter) c.240G>T c.13747G>T (p.Glu4583Ter) c.13777G>T (p.Glu4593Ter) c.13693G>T (p.Glu4565Ter) | |
| 19 | g.38572052_38572053delinsCC | CA080993 | RYR1 | c.716_717delinsCC c.2113_2114delinsCC c.2085_2086delinsCC c.13780_13781delinsCC (p.Glu4594Pro) c.13765_13766delinsCC (p.Glu4589Pro) c.13762_13763delinsCC (p.Glu4588Pro) c.240_241delinsCC c.13747_13748delinsCC (p.Glu4583Pro) c.13777_13778delinsCC (p.Glu4593Pro) c.13693_13694delinsCC (p.Glu4565Pro) | |
| 19 | g.38572052_38572053delinsGA | CA2335088363 | RYR1 | c.716_717delinsGA c.2113_2114delinsGA c.2085_2086delinsGA c.13780_13781delinsGA (p.Glu4594=) c.13765_13766delinsGA (p.Glu4589=) c.13762_13763delinsGA (p.Glu4588=) c.240_241delinsGA c.13747_13748delinsGA (p.Glu4583=) c.13777_13778delinsGA (p.Glu4593=) c.13693_13694delinsGA (p.Glu4565=) | |
| 19 | g.38572053A>C | CA405680180 | RYR1 | c.717A>C c.2114A>C c.2086A>C c.13781A>C (p.Glu4594Ala) c.13766A>C (p.Glu4589Ala) c.13763A>C (p.Glu4588Ala) c.241A>C c.13748A>C (p.Glu4583Ala) c.13778A>C (p.Glu4593Ala) c.13694A>C (p.Glu4565Ala) | |
| 19 | g.38572053A>G | CA405680183 | RYR1 | c.717A>G c.2114A>G c.2086A>G c.13781A>G (p.Glu4594Gly) c.13766A>G (p.Glu4589Gly) c.13763A>G (p.Glu4588Gly) c.241A>G c.13748A>G (p.Glu4583Gly) c.13778A>G (p.Glu4593Gly) c.13694A>G (p.Glu4565Gly) | |
| 19 | g.38572053A>T | CA405680190 | RYR1 | c.717A>T c.2114A>T c.2086A>T c.13781A>T (p.Glu4594Val) c.13766A>T (p.Glu4589Val) c.13763A>T (p.Glu4588Val) c.241A>T c.13748A>T (p.Glu4583Val) c.13778A>T (p.Glu4593Val) c.13694A>T (p.Glu4565Val) | |
| 19 | g.38572054del | CA658799219 | RYR1 | c.718del c.2115del c.2087del c.13782del (p.Gly4595AlafsTer?) c.13767del (p.Gly4590AlafsTer?) c.13764del (p.Gly4589AlafsTer?) c.242del c.13749del (p.Gly4584AlafsTer?) c.13779del (p.Gly4594AlafsTer?) c.13695del (p.Gly4566AlafsTer?) | ClinVar dbSNP |
| 19 | g.38572054A>C | CA405680192 | RYR1 | c.718A>C c.2115A>C c.2087A>C c.13782A>C (p.Glu4594Asp) c.13767A>C (p.Glu4589Asp) c.13764A>C (p.Glu4588Asp) c.242A>C c.13749A>C (p.Glu4583Asp) c.13779A>C (p.Glu4593Asp) c.13695A>C (p.Glu4565Asp) | |
| 19 | g.38572054A>G | CA507355516 | RYR1 | c.718A>G c.2115A>G c.2087A>G c.13782A>G (p.Glu4594=) c.13767A>G (p.Glu4589=) c.13764A>G (p.Glu4588=) c.242A>G c.13749A>G (p.Glu4583=) c.13779A>G (p.Glu4593=) c.13695A>G (p.Glu4565=) | |
| 19 | g.38572054A>T | CA405680194 | RYR1 | c.718A>T c.2115A>T c.2087A>T c.13782A>T (p.Glu4594Asp) c.13767A>T (p.Glu4589Asp) c.13764A>T (p.Glu4588Asp) c.242A>T c.13749A>T (p.Glu4583Asp) c.13779A>T (p.Glu4593Asp) c.13695A>T (p.Glu4565Asp) | |
| 19 | g.38572055G>A | CA405680214 | RYR1 | c.719G>A c.2116G>A c.2088G>A c.13783G>A (p.Gly4595Ser) c.13768G>A (p.Gly4590Ser) c.13765G>A (p.Gly4589Ser) c.243G>A c.13750G>A (p.Gly4584Ser) c.13780G>A (p.Gly4594Ser) c.13696G>A (p.Gly4566Ser) | ClinVar dbSNP gnomAD v2 |
| 19 | g.38572055G>C | CA405680211 | RYR1 | c.719G>C c.2116G>C c.2088G>C c.13783G>C (p.Gly4595Arg) c.13768G>C (p.Gly4590Arg) c.13765G>C (p.Gly4589Arg) c.243G>C c.13750G>C (p.Gly4584Arg) c.13780G>C (p.Gly4594Arg) c.13696G>C (p.Gly4566Arg) | |
| 19 | g.38572055G= | CA2335088364 | RYR1 | c.719G= c.2116G= c.2088G= c.13783G= (p.Gly4595=) c.13768G= (p.Gly4590=) c.13765G= (p.Gly4589=) c.243G= c.13750G= (p.Gly4584=) c.13780G= (p.Gly4594=) c.13696G= (p.Gly4566=) | |
| 19 | g.38572055G>T | CA405680209 | RYR1 | c.719G>T c.2116G>T c.2088G>T c.13783G>T (p.Gly4595Cys) c.13768G>T (p.Gly4590Cys) c.13765G>T (p.Gly4589Cys) c.243G>T c.13750G>T (p.Gly4584Cys) c.13780G>T (p.Gly4594Cys) c.13696G>T (p.Gly4566Cys) | |
| 19 | g.38572056G>A | CA405680218 | RYR1 | c.720G>A c.2117G>A c.2089G>A c.13784G>A (p.Gly4595Asp) c.13769G>A (p.Gly4590Asp) c.13766G>A (p.Gly4589Asp) c.244G>A c.13751G>A (p.Gly4584Asp) c.13781G>A (p.Gly4594Asp) c.13697G>A (p.Gly4566Asp) | |
| 19 | g.38572056G>C | CA405680221 | RYR1 | c.720G>C c.2117G>C c.2089G>C c.13784G>C (p.Gly4595Ala) c.13769G>C (p.Gly4590Ala) c.13766G>C (p.Gly4589Ala) c.244G>C c.13751G>C (p.Gly4584Ala) c.13781G>C (p.Gly4594Ala) c.13697G>C (p.Gly4566Ala) | |
| 19 | g.38572056G= | CA2335088365 | RYR1 | c.720G= c.2117G= c.2089G= c.13784G= (p.Gly4595=) c.13769G= (p.Gly4590=) c.13766G= (p.Gly4589=) c.244G= c.13751G= (p.Gly4584=) c.13781G= (p.Gly4594=) c.13697G= (p.Gly4566=) | |
| 19 | g.38572056G>T | CA405680224 | RYR1 | c.720G>T c.2117G>T c.2089G>T c.13784G>T (p.Gly4595Val) c.13769G>T (p.Gly4590Val) c.13766G>T (p.Gly4589Val) c.244G>T c.13751G>T (p.Gly4584Val) c.13781G>T (p.Gly4594Val) c.13697G>T (p.Gly4566Val) | dbSNP |
| 19 | g.38572057C>A | CA507355520 | RYR1 | c.721C>A c.2118C>A c.2090C>A c.13785C>A (p.Gly4595=) c.13770C>A (p.Gly4590=) c.13767C>A (p.Gly4589=) c.245C>A c.13752C>A (p.Gly4584=) c.13782C>A (p.Gly4594=) c.13698C>A (p.Gly4566=) | |
| 19 | g.38572057C= | CA2335088366 | RYR1 | c.721C= c.2118C= c.2090C= c.13785C= (p.Gly4595=) c.13770C= (p.Gly4590=) c.13767C= (p.Gly4589=) c.245C= c.13752C= (p.Gly4584=) c.13782C= (p.Gly4594=) c.13698C= (p.Gly4566=) | |
| 19 | g.38572057C>G | CA507355521 | RYR1 | c.721C>G c.2118C>G c.2090C>G c.13785C>G (p.Gly4595=) c.13770C>G (p.Gly4590=) c.13767C>G (p.Gly4589=) c.245C>G c.13752C>G (p.Gly4584=) c.13782C>G (p.Gly4594=) c.13698C>G (p.Gly4566=) | |
| 19 | g.38572057C>T | CA507355523 | RYR1 | c.721C>T c.2118C>T c.2090C>T c.13785C>T (p.Gly4595=) c.13770C>T (p.Gly4590=) c.13767C>T (p.Gly4589=) c.245C>T c.13752C>T (p.Gly4584=) c.13782C>T (p.Gly4594=) c.13698C>T (p.Gly4566=) | dbSNP gnomAD v4 |
| 19 | g.38572058T>A | CA405680227 | RYR1 | c.722T>A c.2119T>A c.2091T>A c.13786T>A (p.Ser4596Thr) c.13771T>A (p.Ser4591Thr) c.13768T>A (p.Ser4590Thr) c.246T>A c.13753T>A (p.Ser4585Thr) c.13783T>A (p.Ser4595Thr) c.13699T>A (p.Ser4567Thr) | gnomAD v4 |
| 19 | g.38572058T>C | CA405680228 | RYR1 | c.722T>C c.2119T>C c.2091T>C c.13786T>C (p.Ser4596Pro) c.13771T>C (p.Ser4591Pro) c.13768T>C (p.Ser4590Pro) c.246T>C c.13753T>C (p.Ser4585Pro) c.13783T>C (p.Ser4595Pro) c.13699T>C (p.Ser4567Pro) | |
| 19 | g.38572058T>G | CA405680231 | RYR1 | c.722T>G c.2119T>G c.2091T>G c.13786T>G (p.Ser4596Ala) c.13771T>G (p.Ser4591Ala) c.13768T>G (p.Ser4590Ala) c.246T>G c.13753T>G (p.Ser4585Ala) c.13783T>G (p.Ser4595Ala) c.13699T>G (p.Ser4567Ala) | |
| 19 | g.38572059C>A | CA405680237 | RYR1 | c.723C>A c.2120C>A c.2092C>A c.13787C>A (p.Ser4596Ter) c.13772C>A (p.Ser4591Ter) c.13769C>A (p.Ser4590Ter) c.247C>A c.13754C>A (p.Ser4585Ter) c.13784C>A (p.Ser4595Ter) c.13700C>A (p.Ser4567Ter) | |
| 19 | g.38572059C>G | CA405680240 | RYR1 | c.723C>G c.2120C>G c.2092C>G c.13787C>G (p.Ser4596Ter) c.13772C>G (p.Ser4591Ter) c.13769C>G (p.Ser4590Ter) c.247C>G c.13754C>G (p.Ser4585Ter) c.13784C>G (p.Ser4595Ter) c.13700C>G (p.Ser4567Ter) | |
| 19 | g.38572059C>T | CA405680243 | RYR1 | c.723C>T c.2120C>T c.2092C>T c.13787C>T (p.Ser4596Leu) c.13772C>T (p.Ser4591Leu) c.13769C>T (p.Ser4590Leu) c.247C>T c.13754C>T (p.Ser4585Leu) c.13784C>T (p.Ser4595Leu) c.13700C>T (p.Ser4567Leu) | |
| 19 | g.38572060A>C | CA507355525 | RYR1 | c.724A>C c.2121A>C c.2093A>C c.13788A>C (p.Ser4596=) c.13773A>C (p.Ser4591=) c.13770A>C (p.Ser4590=) c.248A>C c.13755A>C (p.Ser4585=) c.13785A>C (p.Ser4595=) c.13701A>C (p.Ser4567=) | gnomAD v4 |
| 19 | g.38572060A>G | CA507355526 | RYR1 | c.724A>G c.2121A>G c.2093A>G c.13788A>G (p.Ser4596=) c.13773A>G (p.Ser4591=) c.13770A>G (p.Ser4590=) c.248A>G c.13755A>G (p.Ser4585=) c.13785A>G (p.Ser4595=) c.13701A>G (p.Ser4567=) | |
| 19 | g.38572060A>T | CA507355528 | RYR1 | c.724A>T c.2121A>T c.2093A>T c.13788A>T (p.Ser4596=) c.13773A>T (p.Ser4591=) c.13770A>T (p.Ser4590=) c.248A>T c.13755A>T (p.Ser4585=) c.13785A>T (p.Ser4595=) c.13701A>T (p.Ser4567=) | |
| 19 | g.38572061G>A | CA405680253 | RYR1 | c.725G>A c.2122G>A c.2094G>A c.13789G>A (p.Ala4597Thr) c.13774G>A (p.Ala4592Thr) c.13771G>A (p.Ala4591Thr) c.249G>A c.13756G>A (p.Ala4586Thr) c.13786G>A (p.Ala4596Thr) c.13702G>A (p.Ala4568Thr) | |
| 19 | g.38572061G>C | CA405680255 | RYR1 | c.725G>C c.2122G>C c.2094G>C c.13789G>C (p.Ala4597Pro) c.13774G>C (p.Ala4592Pro) c.13771G>C (p.Ala4591Pro) c.249G>C c.13756G>C (p.Ala4586Pro) c.13786G>C (p.Ala4596Pro) c.13702G>C (p.Ala4568Pro) | dbSNP gnomAD v4 |
| 19 | g.38572061G= | CA2335088367 | RYR1 | c.725G= c.2122G= c.2094G= c.13789G= (p.Ala4597=) c.13774G= (p.Ala4592=) c.13771G= (p.Ala4591=) c.249G= c.13756G= (p.Ala4586=) c.13786G= (p.Ala4596=) c.13702G= (p.Ala4568=) | |
| 19 | g.38572061G>T | CA405680257 | RYR1 | c.725G>T c.2122G>T c.2094G>T c.13789G>T (p.Ala4597Ser) c.13774G>T (p.Ala4592Ser) c.13771G>T (p.Ala4591Ser) c.249G>T c.13756G>T (p.Ala4586Ser) c.13786G>T (p.Ala4596Ser) c.13702G>T (p.Ala4568Ser) | |
| 19 | g.38572062C>A | CA405680280 | RYR1 | c.726C>A c.2123C>A c.2095C>A c.13790C>A (p.Ala4597Asp) c.13775C>A (p.Ala4592Asp) c.13772C>A (p.Ala4591Asp) c.250C>A c.13757C>A (p.Ala4586Asp) c.13787C>A (p.Ala4596Asp) c.13703C>A (p.Ala4568Asp) | |
| 19 | g.38572062C= | CA2335088368 | RYR1 | c.726C= c.2123C= c.2095C= c.13790C= (p.Ala4597=) c.13775C= (p.Ala4592=) c.13772C= (p.Ala4591=) c.250C= c.13757C= (p.Ala4586=) c.13787C= (p.Ala4596=) c.13703C= (p.Ala4568=) | |
| 19 | g.38572062C>G | CA405680271 | RYR1 | c.726C>G c.2123C>G c.2095C>G c.13790C>G (p.Ala4597Gly) c.13775C>G (p.Ala4592Gly) c.13772C>G (p.Ala4591Gly) c.250C>G c.13757C>G (p.Ala4586Gly) c.13787C>G (p.Ala4596Gly) c.13703C>G (p.Ala4568Gly) | |
| 19 | g.38572062C>T | CA308114046 | RYR1 | c.726C>T c.2123C>T c.2095C>T c.13790C>T (p.Ala4597Val) c.13775C>T (p.Ala4592Val) c.13772C>T (p.Ala4591Val) c.250C>T c.13757C>T (p.Ala4586Val) c.13787C>T (p.Ala4596Val) c.13703C>T (p.Ala4568Val) | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.38572063T>A | CA507355531 | RYR1 | c.727T>A c.2124T>A c.2096T>A c.13791T>A (p.Ala4597=) c.13776T>A (p.Ala4592=) c.13773T>A (p.Ala4591=) c.251T>A c.13758T>A (p.Ala4586=) c.13788T>A (p.Ala4596=) c.13704T>A (p.Ala4568=) | |
| 19 | g.38572063T>C | CA507355533 | RYR1 | c.727T>C c.2124T>C c.2096T>C c.13791T>C (p.Ala4597=) c.13776T>C (p.Ala4592=) c.13773T>C (p.Ala4591=) c.251T>C c.13758T>C (p.Ala4586=) c.13788T>C (p.Ala4596=) c.13704T>C (p.Ala4568=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38572063T>G | CA507355535 | RYR1 | c.727T>G c.2124T>G c.2096T>G c.13791T>G (p.Ala4597=) c.13776T>G (p.Ala4592=) c.13773T>G (p.Ala4591=) c.251T>G c.13758T>G (p.Ala4586=) c.13788T>G (p.Ala4596=) c.13704T>G (p.Ala4568=) | |
| 19 | g.38572063T= | CA2335088369 | RYR1 | c.727T= c.2124T= c.2096T= c.13791T= (p.Ala4597=) c.13776T= (p.Ala4592=) c.13773T= (p.Ala4591=) c.251T= c.13758T= (p.Ala4586=) c.13788T= (p.Ala4596=) c.13704T= (p.Ala4568=) | |
| 19 | g.38572064G>A | CA405680283 | RYR1 | c.728G>A c.2125G>A c.2097G>A c.13792G>A (p.Ala4598Thr) c.13777G>A (p.Ala4593Thr) c.13774G>A (p.Ala4592Thr) c.252G>A c.13759G>A (p.Ala4587Thr) c.13789G>A (p.Ala4597Thr) c.13705G>A (p.Ala4569Thr) | |
| 19 | g.38572064G>C | CA405680288 | RYR1 | c.728G>C c.2125G>C c.2097G>C c.13792G>C (p.Ala4598Pro) c.13777G>C (p.Ala4593Pro) c.13774G>C (p.Ala4592Pro) c.252G>C c.13759G>C (p.Ala4587Pro) c.13789G>C (p.Ala4597Pro) c.13705G>C (p.Ala4569Pro) | gnomAD v4 |
| 19 | g.38572064G>T | CA405680290 | RYR1 | c.728G>T c.2125G>T c.2097G>T c.13792G>T (p.Ala4598Ser) c.13777G>T (p.Ala4593Ser) c.13774G>T (p.Ala4592Ser) c.252G>T c.13759G>T (p.Ala4587Ser) c.13789G>T (p.Ala4597Ser) c.13705G>T (p.Ala4569Ser) | |
| 19 | g.38572071_38572110del | CA2814348012 | RYR1 | c.735_774del c.2132_2171del c.2104_2143del c.13799_13838del (p.Asp4600AlafsTer?) c.13784_13823del (p.Asp4595AlafsTer?) c.13781_13820del (p.Asp4594AlafsTer?) c.259_298del c.13766_13805del (p.Asp4589AlafsTer?) c.13796_13835del (p.Asp4599AlafsTer?) c.13712_13751del (p.Asp4571AlafsTer?) | |
| 19 | g.38572065C>A | CA405680291 | RYR1 | c.729C>A c.2126C>A c.2098C>A c.13793C>A (p.Ala4598Asp) c.13778C>A (p.Ala4593Asp) c.13775C>A (p.Ala4592Asp) c.253C>A c.13760C>A (p.Ala4587Asp) c.13790C>A (p.Ala4597Asp) c.13706C>A (p.Ala4569Asp) | |
| 19 | g.38572065C>G | CA405680295 | RYR1 | c.729C>G c.2126C>G c.2098C>G c.13793C>G (p.Ala4598Gly) c.13778C>G (p.Ala4593Gly) c.13775C>G (p.Ala4592Gly) c.253C>G c.13760C>G (p.Ala4587Gly) c.13790C>G (p.Ala4597Gly) c.13706C>G (p.Ala4569Gly) | |
| 19 | g.38572065C>T | CA405680297 | RYR1 | c.729C>T c.2126C>T c.2098C>T c.13793C>T (p.Ala4598Val) c.13778C>T (p.Ala4593Val) c.13775C>T (p.Ala4592Val) c.253C>T c.13760C>T (p.Ala4587Val) c.13790C>T (p.Ala4597Val) c.13706C>T (p.Ala4569Val) | COSMIC |
| 19 | g.38572066T>A | CA507355539 | RYR1 | c.730T>A c.2127T>A c.2099T>A c.13794T>A (p.Ala4598=) c.13779T>A (p.Ala4593=) c.13776T>A (p.Ala4592=) c.254T>A c.13761T>A (p.Ala4587=) c.13791T>A (p.Ala4597=) c.13707T>A (p.Ala4569=) | |
| 19 | g.38572066T>C | CA507355541 | RYR1 | c.730T>C c.2127T>C c.2099T>C c.13794T>C (p.Ala4598=) c.13779T>C (p.Ala4593=) c.13776T>C (p.Ala4592=) c.254T>C c.13761T>C (p.Ala4587=) c.13791T>C (p.Ala4597=) c.13707T>C (p.Ala4569=) | dbSNP |
| 19 | g.38572066T>G | CA507355542 | RYR1 | c.730T>G c.2127T>G c.2099T>G c.13794T>G (p.Ala4598=) c.13779T>G (p.Ala4593=) c.13776T>G (p.Ala4592=) c.254T>G c.13761T>G (p.Ala4587=) c.13791T>G (p.Ala4597=) c.13707T>G (p.Ala4569=) | |
| 19 | g.38572066T= | CA2335088370 | RYR1 | c.730T= c.2127T= c.2099T= c.13794T= (p.Ala4598=) c.13779T= (p.Ala4593=) c.13776T= (p.Ala4592=) c.254T= c.13761T= (p.Ala4587=) c.13791T= (p.Ala4597=) c.13707T= (p.Ala4569=) | |
| 19 | g.38572067G>A | CA405680299 | RYR1 | c.731G>A c.2128G>A c.2100G>A c.13795G>A (p.Gly4599Arg) c.13780G>A (p.Gly4594Arg) c.13777G>A (p.Gly4593Arg) c.255G>A c.13762G>A (p.Gly4588Arg) c.13792G>A (p.Gly4598Arg) c.13708G>A (p.Gly4570Arg) | dbSNP gnomAD v4 |
| 19 | g.38572067G>C | CA405680311 | RYR1 | c.731G>C c.2128G>C c.2100G>C c.13795G>C (p.Gly4599Arg) c.13780G>C (p.Gly4594Arg) c.13777G>C (p.Gly4593Arg) c.255G>C c.13762G>C (p.Gly4588Arg) c.13792G>C (p.Gly4598Arg) c.13708G>C (p.Gly4570Arg) | |
| 19 | g.38572067G>T | CA405680315 | RYR1 | c.731G>T c.2128G>T c.2100G>T c.13795G>T (p.Gly4599Trp) c.13780G>T (p.Gly4594Trp) c.13777G>T (p.Gly4593Trp) c.255G>T c.13762G>T (p.Gly4588Trp) c.13792G>T (p.Gly4598Trp) c.13708G>T (p.Gly4570Trp) | |
| 19 | g.38572070del | CA2584910036 | RYR1 | c.734del c.2131del c.2103del c.13798del (p.Asp4600MetfsTer?) c.13783del (p.Asp4595MetfsTer?) c.13780del (p.Asp4594MetfsTer?) c.258del c.13765del (p.Asp4589MetfsTer?) c.13795del (p.Asp4599MetfsTer?) c.13711del (p.Asp4571MetfsTer?) | gnomAD v4 |
| 19 | g.38572068G>A | CA405680323 | RYR1 | c.732G>A c.2129G>A c.2101G>A c.13796G>A (p.Gly4599Glu) c.13781G>A (p.Gly4594Glu) c.13778G>A (p.Gly4593Glu) c.256G>A c.13763G>A (p.Gly4588Glu) c.13793G>A (p.Gly4598Glu) c.13709G>A (p.Gly4570Glu) | |
| 19 | g.38572068G>C | CA405680324 | RYR1 | c.732G>C c.2129G>C c.2101G>C c.13796G>C (p.Gly4599Ala) c.13781G>C (p.Gly4594Ala) c.13778G>C (p.Gly4593Ala) c.256G>C c.13763G>C (p.Gly4588Ala) c.13793G>C (p.Gly4598Ala) c.13709G>C (p.Gly4570Ala) | |
| 19 | g.38572068G>T | CA405680326 | RYR1 | c.732G>T c.2129G>T c.2101G>T c.13796G>T (p.Gly4599Val) c.13781G>T (p.Gly4594Val) c.13778G>T (p.Gly4593Val) c.256G>T c.13763G>T (p.Gly4588Val) c.13793G>T (p.Gly4598Val) c.13709G>T (p.Gly4570Val) | |
| 19 | g.38572069G>A | CA507355546 | RYR1 | c.733G>A c.2130G>A c.2102G>A c.13797G>A (p.Gly4599=) c.13782G>A (p.Gly4594=) c.13779G>A (p.Gly4593=) c.257G>A c.13764G>A (p.Gly4588=) c.13794G>A (p.Gly4598=) c.13710G>A (p.Gly4570=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38572069G>C | CA507355547 | RYR1 | c.733G>C c.2130G>C c.2102G>C c.13797G>C (p.Gly4599=) c.13782G>C (p.Gly4594=) c.13779G>C (p.Gly4593=) c.257G>C c.13764G>C (p.Gly4588=) c.13794G>C (p.Gly4598=) c.13710G>C (p.Gly4570=) | ClinVar gnomAD v4 |
| 19 | g.38572069G= | CA2335088371 | RYR1 | c.733G= c.2130G= c.2102G= c.13797G= (p.Gly4599=) c.13782G= (p.Gly4594=) c.13779G= (p.Gly4593=) c.257G= c.13764G= (p.Gly4588=) c.13794G= (p.Gly4598=) c.13710G= (p.Gly4570=) | |
| 19 | g.38572069G>T | CA507355548 | RYR1 | c.733G>T c.2130G>T c.2102G>T c.13797G>T (p.Gly4599=) c.13782G>T (p.Gly4594=) c.13779G>T (p.Gly4593=) c.257G>T c.13764G>T (p.Gly4588=) c.13794G>T (p.Gly4598=) c.13710G>T (p.Gly4570=) | |
| 19 | g.38572070G>A | CA405680346 | RYR1 | c.734G>A c.2131G>A c.2103G>A c.13798G>A (p.Asp4600Asn) c.13783G>A (p.Asp4595Asn) c.13780G>A (p.Asp4594Asn) c.258G>A c.13765G>A (p.Asp4589Asn) c.13795G>A (p.Asp4599Asn) c.13711G>A (p.Asp4571Asn) | COSMIC |
| 19 | g.38572070G>C | CA405680332 | RYR1 | c.734G>C c.2131G>C c.2103G>C c.13798G>C (p.Asp4600His) c.13783G>C (p.Asp4595His) c.13780G>C (p.Asp4594His) c.258G>C c.13765G>C (p.Asp4589His) c.13795G>C (p.Asp4599His) c.13711G>C (p.Asp4571His) | |
| 19 | g.38572070G= | CA2335088372 | RYR1 | c.734G= c.2131G= c.2103G= c.13798G= (p.Asp4600=) c.13783G= (p.Asp4595=) c.13780G= (p.Asp4594=) c.258G= c.13765G= (p.Asp4589=) c.13795G= (p.Asp4599=) c.13711G= (p.Asp4571=) | |
| 19 | g.38572070G>T | CA405680329 | RYR1 | c.734G>T c.2131G>T c.2103G>T c.13798G>T (p.Asp4600Tyr) c.13783G>T (p.Asp4595Tyr) c.13780G>T (p.Asp4594Tyr) c.258G>T c.13765G>T (p.Asp4589Tyr) c.13795G>T (p.Asp4599Tyr) c.13711G>T (p.Asp4571Tyr) | dbSNP COSMIC |
| 19 | g.38572071A= | CA2335088373 | RYR1 | c.735A= c.2132A= c.2104A= c.13799A= (p.Asp4600=) c.13784A= (p.Asp4595=) c.13781A= (p.Asp4594=) c.259A= c.13766A= (p.Asp4589=) c.13796A= (p.Asp4599=) c.13712A= (p.Asp4571=) | |
| 19 | g.38572071A>C | CA405680350 | RYR1 | c.735A>C c.2132A>C c.2104A>C c.13799A>C (p.Asp4600Ala) c.13784A>C (p.Asp4595Ala) c.13781A>C (p.Asp4594Ala) c.259A>C c.13766A>C (p.Asp4589Ala) c.13796A>C (p.Asp4599Ala) c.13712A>C (p.Asp4571Ala) | |
| 19 | g.38572071A>G | CA405680355 | RYR1 | c.735A>G c.2132A>G c.2104A>G c.13799A>G (p.Asp4600Gly) c.13784A>G (p.Asp4595Gly) c.13781A>G (p.Asp4594Gly) c.259A>G c.13766A>G (p.Asp4589Gly) c.13796A>G (p.Asp4599Gly) c.13712A>G (p.Asp4571Gly) | |
| 19 | g.38572071A>T | CA308114051 | RYR1 | c.735A>T c.2132A>T c.2104A>T c.13799A>T (p.Asp4600Val) c.13784A>T (p.Asp4595Val) c.13781A>T (p.Asp4594Val) c.259A>T c.13766A>T (p.Asp4589Val) c.13796A>T (p.Asp4599Val) c.13712A>T (p.Asp4571Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38572071_38572073delinsATG | CA2335088374 | RYR1 | c.735_737delinsATG c.2132_2134delinsATG c.2104_2106delinsATG c.13799_13801delinsATG (p.Asp4600=) c.13784_13786delinsATG (p.Asp4595=) c.13781_13783delinsATG (p.Asp4594=) c.259_261delinsATG c.13766_13768delinsATG (p.Asp4589=) c.13796_13798delinsATG (p.Asp4599=) c.13712_13714delinsATG (p.Asp4571=) | |
| 19 | g.38572072T>A | CA405680360 | RYR1 | c.736T>A c.2133T>A c.2105T>A c.13800T>A (p.Asp4600Glu) c.13785T>A (p.Asp4595Glu) c.13782T>A (p.Asp4594Glu) c.260T>A c.13767T>A (p.Asp4589Glu) c.13797T>A (p.Asp4599Glu) c.13713T>A (p.Asp4571Glu) | |
| 19 | g.38572072T>C | CA507355554 | RYR1 | c.736T>C c.2133T>C c.2105T>C c.13800T>C (p.Asp4600=) c.13785T>C (p.Asp4595=) c.13782T>C (p.Asp4594=) c.260T>C c.13767T>C (p.Asp4589=) c.13797T>C (p.Asp4599=) c.13713T>C (p.Asp4571=) | |
| 19 | g.38572072T>G | CA405680362 | RYR1 | c.736T>G c.2133T>G c.2105T>G c.13800T>G (p.Asp4600Glu) c.13785T>G (p.Asp4595Glu) c.13782T>G (p.Asp4594Glu) c.260T>G c.13767T>G (p.Asp4589Glu) c.13797T>G (p.Asp4599Glu) c.13713T>G (p.Asp4571Glu) | |
| 19 | g.38572075_38572076del | CA995736051 | RYR1 | c.739_740del c.2136_2137del c.2108_2109del c.13803_13804del (p.Ser4602ArgfsTer22) c.13788_13789del (p.Ser4597ArgfsTer22) c.13785_13786del (p.Ser4596ArgfsTer22) c.263_264del c.13770_13771del (p.Ser4591ArgfsTer22) c.13800_13801del (p.Ser4601ArgfsTer22) c.13716_13717del (p.Ser4573ArgfsTer22) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38572073G>A | CA405680364 | RYR1 | c.737G>A c.2134G>A c.2106G>A c.13801G>A (p.Val4601Met) c.13786G>A (p.Val4596Met) c.13783G>A (p.Val4595Met) c.261G>A c.13768G>A (p.Val4590Met) c.13798G>A (p.Val4600Met) c.13714G>A (p.Val4572Met) | ClinVar dbSNP |
| 19 | g.38572073G>C | CA405680376 | RYR1 | c.737G>C c.2134G>C c.2106G>C c.13801G>C (p.Val4601Leu) c.13786G>C (p.Val4596Leu) c.13783G>C (p.Val4595Leu) c.261G>C c.13768G>C (p.Val4590Leu) c.13798G>C (p.Val4600Leu) c.13714G>C (p.Val4572Leu) | |
| 19 | g.38572073G= | CA2335088375 | RYR1 | c.737G= c.2134G= c.2106G= c.13801G= (p.Val4601=) c.13786G= (p.Val4596=) c.13783G= (p.Val4595=) c.261G= c.13768G= (p.Val4590=) c.13798G= (p.Val4600=) c.13714G= (p.Val4572=) | |
| 19 | g.38572073G>T | CA405680378 | RYR1 | c.737G>T c.2134G>T c.2106G>T c.13801G>T (p.Val4601Leu) c.13786G>T (p.Val4596Leu) c.13783G>T (p.Val4595Leu) c.261G>T c.13768G>T (p.Val4590Leu) c.13798G>T (p.Val4600Leu) c.13714G>T (p.Val4572Leu) | |
| 19 | g.38572074T>A | CA405680385 | RYR1 | c.738T>A c.2135T>A c.2107T>A c.13802T>A (p.Val4601Glu) c.13787T>A (p.Val4596Glu) c.13784T>A (p.Val4595Glu) c.262T>A c.13769T>A (p.Val4590Glu) c.13799T>A (p.Val4600Glu) c.13715T>A (p.Val4572Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38572074T>C | CA405680388 | RYR1 | c.738T>C c.2135T>C c.2107T>C c.13802T>C (p.Val4601Ala) c.13787T>C (p.Val4596Ala) c.13784T>C (p.Val4595Ala) c.262T>C c.13769T>C (p.Val4590Ala) c.13799T>C (p.Val4600Ala) c.13715T>C (p.Val4572Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38572074T>G | CA405680394 | RYR1 | c.738T>G c.2135T>G c.2107T>G c.13802T>G (p.Val4601Gly) c.13787T>G (p.Val4596Gly) c.13784T>G (p.Val4595Gly) c.262T>G c.13769T>G (p.Val4590Gly) c.13799T>G (p.Val4600Gly) c.13715T>G (p.Val4572Gly) | |
| 19 | g.38572074T= | CA2335088376 | RYR1 | c.738T= c.2135T= c.2107T= c.13802T= (p.Val4601=) c.13787T= (p.Val4596=) c.13784T= (p.Val4595=) c.262T= c.13769T= (p.Val4590=) c.13799T= (p.Val4600=) c.13715T= (p.Val4572=) | |
| 19 | g.38572075G>A | CA507355559 | RYR1 | c.739G>A c.2136G>A c.2108G>A c.13803G>A (p.Val4601=) c.13788G>A (p.Val4596=) c.13785G>A (p.Val4595=) c.263G>A c.13770G>A (p.Val4590=) c.13800G>A (p.Val4600=) c.13716G>A (p.Val4572=) | |
| 19 | g.38572075G>C | CA507355561 | RYR1 | c.739G>C c.2136G>C c.2108G>C c.13803G>C (p.Val4601=) c.13788G>C (p.Val4596=) c.13785G>C (p.Val4595=) c.263G>C c.13770G>C (p.Val4590=) c.13800G>C (p.Val4600=) c.13716G>C (p.Val4572=) | |
| 19 | g.38572075G>T | CA507355560 | RYR1 | c.739G>T c.2136G>T c.2108G>T c.13803G>T (p.Val4601=) c.13788G>T (p.Val4596=) c.13785G>T (p.Val4595=) c.263G>T c.13770G>T (p.Val4590=) c.13800G>T (p.Val4600=) c.13716G>T (p.Val4572=) | COSMIC |
| 19 | g.38572076T>A | CA405680395 | RYR1 | c.740T>A c.2137T>A c.2109T>A c.13804T>A (p.Ser4602Thr) c.13789T>A (p.Ser4597Thr) c.13786T>A (p.Ser4596Thr) c.264T>A c.13771T>A (p.Ser4591Thr) c.13801T>A (p.Ser4601Thr) c.13717T>A (p.Ser4573Thr) | |
| 19 | g.38572076T>C | CA405680396 | RYR1 | c.740T>C c.2137T>C c.2109T>C c.13804T>C (p.Ser4602Pro) c.13789T>C (p.Ser4597Pro) c.13786T>C (p.Ser4596Pro) c.264T>C c.13771T>C (p.Ser4591Pro) c.13801T>C (p.Ser4601Pro) c.13717T>C (p.Ser4573Pro) | gnomAD v4 |
| 19 | g.38572076T>G | CA405680398 | RYR1 | c.740T>G c.2137T>G c.2109T>G c.13804T>G (p.Ser4602Ala) c.13789T>G (p.Ser4597Ala) c.13786T>G (p.Ser4596Ala) c.264T>G c.13771T>G (p.Ser4591Ala) c.13801T>G (p.Ser4601Ala) c.13717T>G (p.Ser4573Ala) | |
| 19 | g.38572077C>A | CA405680405 | RYR1 | c.741C>A c.2138C>A c.2110C>A c.13805C>A (p.Ser4602Ter) c.13790C>A (p.Ser4597Ter) c.13787C>A (p.Ser4596Ter) c.265C>A c.13772C>A (p.Ser4591Ter) c.13802C>A (p.Ser4601Ter) c.13718C>A (p.Ser4573Ter) | |
| 19 | g.38572077C>G | CA405680402 | RYR1 | c.741C>G c.2138C>G c.2110C>G c.13805C>G (p.Ser4602Ter) c.13790C>G (p.Ser4597Ter) c.13787C>G (p.Ser4596Ter) c.265C>G c.13772C>G (p.Ser4591Ter) c.13802C>G (p.Ser4601Ter) c.13718C>G (p.Ser4573Ter) | |
| 19 | g.38572077C>T | CA405680399 | RYR1 | c.741C>T c.2138C>T c.2110C>T c.13805C>T (p.Ser4602Leu) c.13790C>T (p.Ser4597Leu) c.13787C>T (p.Ser4596Leu) c.265C>T c.13772C>T (p.Ser4591Leu) c.13802C>T (p.Ser4601Leu) c.13718C>T (p.Ser4573Leu) | |
| 19 | g.38572078A>C | CA507355567 | RYR1 | c.742A>C c.2139A>C c.2111A>C c.13806A>C (p.Ser4602=) c.13791A>C (p.Ser4597=) c.13788A>C (p.Ser4596=) c.266A>C c.13773A>C (p.Ser4591=) c.13803A>C (p.Ser4601=) c.13719A>C (p.Ser4573=) | |
| 19 | g.38572078A>G | CA507355568 | RYR1 | c.742A>G c.2139A>G c.2111A>G c.13806A>G (p.Ser4602=) c.13791A>G (p.Ser4597=) c.13788A>G (p.Ser4596=) c.266A>G c.13773A>G (p.Ser4591=) c.13803A>G (p.Ser4601=) c.13719A>G (p.Ser4573=) | |
| 19 | g.38572078A>T | CA507355570 | RYR1 | c.742A>T c.2139A>T c.2111A>T c.13806A>T (p.Ser4602=) c.13791A>T (p.Ser4597=) c.13788A>T (p.Ser4596=) c.266A>T c.13773A>T (p.Ser4591=) c.13803A>T (p.Ser4601=) c.13719A>T (p.Ser4573=) | |
| 19 | g.38572079G>A | CA405680407 | RYR1 | c.743G>A c.2140G>A c.2112G>A c.13807G>A (p.Gly4603Ser) c.13792G>A (p.Gly4598Ser) c.13789G>A (p.Gly4597Ser) c.267G>A c.13774G>A (p.Gly4592Ser) c.13804G>A (p.Gly4602Ser) c.13720G>A (p.Gly4574Ser) | COSMIC |
| 19 | g.38572079G>C | CA060536 | RYR1 | c.743G>C c.2140G>C c.2112G>C c.13807G>C (p.Gly4603Arg) c.13792G>C (p.Gly4598Arg) c.13789G>C (p.Gly4597Arg) c.267G>C c.13774G>C (p.Gly4592Arg) c.13804G>C (p.Gly4602Arg) c.13720G>C (p.Gly4574Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38572079G= | CA2335088377 | RYR1 | c.743G= c.2140G= c.2112G= c.13807G= (p.Gly4603=) c.13792G= (p.Gly4598=) c.13789G= (p.Gly4597=) c.267G= c.13774G= (p.Gly4592=) c.13804G= (p.Gly4602=) c.13720G= (p.Gly4574=) | |
| 19 | g.38572079G>T | CA405680408 | RYR1 | c.743G>T c.2140G>T c.2112G>T c.13807G>T (p.Gly4603Cys) c.13792G>T (p.Gly4598Cys) c.13789G>T (p.Gly4597Cys) c.267G>T c.13774G>T (p.Gly4592Cys) c.13804G>T (p.Gly4602Cys) c.13720G>T (p.Gly4574Cys) | |
| 19 | g.38572080G>A | CA060540 | RYR1 | c.744G>A c.2141G>A c.2113G>A c.13808G>A (p.Gly4603Asp) c.13793G>A (p.Gly4598Asp) c.13790G>A (p.Gly4597Asp) c.268G>A c.13775G>A (p.Gly4592Asp) c.13805G>A (p.Gly4602Asp) c.13721G>A (p.Gly4574Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38572080G>C | CA405680409 | RYR1 | c.744G>C c.2141G>C c.2113G>C c.13808G>C (p.Gly4603Ala) c.13793G>C (p.Gly4598Ala) c.13790G>C (p.Gly4597Ala) c.268G>C c.13775G>C (p.Gly4592Ala) c.13805G>C (p.Gly4602Ala) c.13721G>C (p.Gly4574Ala) | |
| 19 | g.38572080G= | CA2335088378 | RYR1 | c.744G= c.2141G= c.2113G= c.13808G= (p.Gly4603=) c.13793G= (p.Gly4598=) c.13790G= (p.Gly4597=) c.268G= c.13775G= (p.Gly4592=) c.13805G= (p.Gly4602=) c.13721G= (p.Gly4574=) | |
| 19 | g.38572080G>T | CA405680411 | RYR1 | c.744G>T c.2141G>T c.2113G>T c.13808G>T (p.Gly4603Val) c.13793G>T (p.Gly4598Val) c.13790G>T (p.Gly4597Val) c.268G>T c.13775G>T (p.Gly4592Val) c.13805G>T (p.Gly4602Val) c.13721G>T (p.Gly4574Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38572081T>A | CA507355972 | RYR1 | c.745T>A c.2142T>A c.2114T>A c.13809T>A (p.Gly4603=) c.13794T>A (p.Gly4598=) c.13791T>A (p.Gly4597=) c.269T>A c.13776T>A (p.Gly4592=) c.13806T>A (p.Gly4602=) c.13722T>A (p.Gly4574=) | |
| 19 | g.38572081T>C | CA507355973 | RYR1 | c.745T>C c.2142T>C c.2114T>C c.13809T>C (p.Gly4603=) c.13794T>C (p.Gly4598=) c.13791T>C (p.Gly4597=) c.269T>C c.13776T>C (p.Gly4592=) c.13806T>C (p.Gly4602=) c.13722T>C (p.Gly4574=) | |
| 19 | g.38572081T>G | CA507355974 | RYR1 | c.745T>G c.2142T>G c.2114T>G c.13809T>G (p.Gly4603=) c.13794T>G (p.Gly4598=) c.13791T>G (p.Gly4597=) c.269T>G c.13776T>G (p.Gly4592=) c.13806T>G (p.Gly4602=) c.13722T>G (p.Gly4574=) | dbSNP gnomAD v2 |
| 19 | g.38572081T= | CA2335088379 | RYR1 | c.745T= c.2142T= c.2114T= c.13809T= (p.Gly4603=) c.13794T= (p.Gly4598=) c.13791T= (p.Gly4597=) c.269T= c.13776T= (p.Gly4592=) c.13806T= (p.Gly4602=) c.13722T= (p.Gly4574=) | |
| 19 | g.38572082G>A | CA405680414 | RYR1 | c.746G>A c.2143G>A c.2115G>A c.13810G>A (p.Ala4604Thr) c.13795G>A (p.Ala4599Thr) c.13792G>A (p.Ala4598Thr) c.270G>A c.13777G>A (p.Ala4593Thr) c.13807G>A (p.Ala4603Thr) c.13723G>A (p.Ala4575Thr) | gnomAD v4 |
| 19 | g.38572082G>C | CA081010 | RYR1 | c.746G>C c.2143G>C c.2115G>C c.13810G>C (p.Ala4604Pro) c.13795G>C (p.Ala4599Pro) c.13792G>C (p.Ala4598Pro) c.270G>C c.13777G>C (p.Ala4593Pro) c.13807G>C (p.Ala4603Pro) c.13723G>C (p.Ala4575Pro) | |
| 19 | g.38572082G>T | CA405680425 | RYR1 | c.746G>T c.2143G>T c.2115G>T c.13810G>T (p.Ala4604Ser) c.13795G>T (p.Ala4599Ser) c.13792G>T (p.Ala4598Ser) c.270G>T c.13777G>T (p.Ala4593Ser) c.13807G>T (p.Ala4603Ser) c.13723G>T (p.Ala4575Ser) | |
| 19 | g.38572083C>A | CA405680426 | RYR1 | c.747C>A c.2144C>A c.2116C>A c.13811C>A (p.Ala4604Glu) c.13796C>A (p.Ala4599Glu) c.13793C>A (p.Ala4598Glu) c.271C>A c.13778C>A (p.Ala4593Glu) c.13808C>A (p.Ala4603Glu) c.13724C>A (p.Ala4575Glu) | |
| 19 | g.38572083C>G | CA405680427 | RYR1 | c.747C>G c.2144C>G c.2116C>G c.13811C>G (p.Ala4604Gly) c.13796C>G (p.Ala4599Gly) c.13793C>G (p.Ala4598Gly) c.271C>G c.13778C>G (p.Ala4593Gly) c.13808C>G (p.Ala4603Gly) c.13724C>G (p.Ala4575Gly) | |
| 19 | g.38572083C>T | CA405680428 | RYR1 | c.747C>T c.2144C>T c.2116C>T c.13811C>T (p.Ala4604Val) c.13796C>T (p.Ala4599Val) c.13793C>T (p.Ala4598Val) c.271C>T c.13778C>T (p.Ala4593Val) c.13808C>T (p.Ala4603Val) c.13724C>T (p.Ala4575Val) | gnomAD v4 |
| 19 | g.38572084A>C | CA507355976 | RYR1 | c.748A>C c.2145A>C c.2117A>C c.13812A>C (p.Ala4604=) c.13797A>C (p.Ala4599=) c.13794A>C (p.Ala4598=) c.272A>C c.13779A>C (p.Ala4593=) c.13809A>C (p.Ala4603=) c.13725A>C (p.Ala4575=) | |
| 19 | g.38572084A>G | CA507355977 | RYR1 | c.748A>G c.2145A>G c.2117A>G c.13812A>G (p.Ala4604=) c.13797A>G (p.Ala4599=) c.13794A>G (p.Ala4598=) c.272A>G c.13779A>G (p.Ala4593=) c.13809A>G (p.Ala4603=) c.13725A>G (p.Ala4575=) | gnomAD v4 |
| 19 | g.38572084A>T | CA507355978 | RYR1 | c.748A>T c.2145A>T c.2117A>T c.13812A>T (p.Ala4604=) c.13797A>T (p.Ala4599=) c.13794A>T (p.Ala4598=) c.272A>T c.13779A>T (p.Ala4593=) c.13809A>T (p.Ala4603=) c.13725A>T (p.Ala4575=) | |
| 19 | g.38572085G>A | CA405680445 | RYR1 | c.749G>A c.2146G>A c.2118G>A c.13813G>A (p.Gly4605Ser) c.13798G>A (p.Gly4600Ser) c.13795G>A (p.Gly4599Ser) c.273G>A c.13780G>A (p.Gly4594Ser) c.13810G>A (p.Gly4604Ser) c.13726G>A (p.Gly4576Ser) | |
| 19 | g.38572085G>C | CA405680442 | RYR1 | c.749G>C c.2146G>C c.2118G>C c.13813G>C (p.Gly4605Arg) c.13798G>C (p.Gly4600Arg) c.13795G>C (p.Gly4599Arg) c.273G>C c.13780G>C (p.Gly4594Arg) c.13810G>C (p.Gly4604Arg) c.13726G>C (p.Gly4576Arg) | |
| 19 | g.38572085G>T | CA405680433 | RYR1 | c.749G>T c.2146G>T c.2118G>T c.13813G>T (p.Gly4605Cys) c.13798G>T (p.Gly4600Cys) c.13795G>T (p.Gly4599Cys) c.273G>T c.13780G>T (p.Gly4594Cys) c.13810G>T (p.Gly4604Cys) c.13726G>T (p.Gly4576Cys) | |
| 19 | g.38572085_38572097delinsGGCTCTGGTGGCA | CA2335088380 | RYR1 | c.749_761delinsGGCTCTGGTGGCA c.2146_2158delinsGGCTCTGGTGGCA c.2118_2130delinsGGCTCTGGTGGCA c.13813_13825delinsGGCTCTGGTGGCA (p.Gly4605=) c.13798_13810delinsGGCTCTGGTGGCA (p.Gly4600=) c.13795_13807delinsGGCTCTGGTGGCA (p.Gly4599=) c.273_285delinsGGCTCTGGTGGCA c.13780_13792delinsGGCTCTGGTGGCA (p.Gly4594=) c.13810_13822delinsGGCTCTGGTGGCA (p.Gly4604=) c.13726_13738delinsGGCTCTGGTGGCA (p.Gly4576=) | |
| 19 | g.38572086G>A | CA405680449 | RYR1 | c.750G>A c.2147G>A c.2119G>A c.13814G>A (p.Gly4605Asp) c.13799G>A (p.Gly4600Asp) c.13796G>A (p.Gly4599Asp) c.274G>A c.13781G>A (p.Gly4594Asp) c.13811G>A (p.Gly4604Asp) c.13727G>A (p.Gly4576Asp) | |
| 19 | g.38572086G>C | CA405680452 | RYR1 | c.750G>C c.2147G>C c.2119G>C c.13814G>C (p.Gly4605Ala) c.13799G>C (p.Gly4600Ala) c.13796G>C (p.Gly4599Ala) c.274G>C c.13781G>C (p.Gly4594Ala) c.13811G>C (p.Gly4604Ala) c.13727G>C (p.Gly4576Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38572086G= | CA2335088381 | RYR1 | c.750G= c.2147G= c.2119G= c.13814G= (p.Gly4605=) c.13799G= (p.Gly4600=) c.13796G= (p.Gly4599=) c.274G= c.13781G= (p.Gly4594=) c.13811G= (p.Gly4604=) c.13727G= (p.Gly4576=) | |
| 19 | g.38572086G>T | CA405680455 | RYR1 | c.750G>T c.2147G>T c.2119G>T c.13814G>T (p.Gly4605Val) c.13799G>T (p.Gly4600Val) c.13796G>T (p.Gly4599Val) c.274G>T c.13781G>T (p.Gly4594Val) c.13811G>T (p.Gly4604Val) c.13727G>T (p.Gly4576Val) | |
| 19 | g.38572093_38572104del | CA081012 | RYR1 | c.757_768del c.2154_2165del c.2126_2137del c.13821_13832del (p.Gly4608_Gly4611del) c.13806_13817del (p.Gly4603_Gly4606del) c.13803_13814del (p.Gly4602_Gly4605del) c.281_292del c.13788_13799del (p.Gly4597_Gly4600del) c.13818_13829del (p.Gly4607_Gly4610del) c.13734_13745del (p.Gly4579_Gly4582del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38572087C>A | CA507355980 | RYR1 | c.751C>A c.2148C>A c.2120C>A c.13815C>A (p.Gly4605=) c.13800C>A (p.Gly4600=) c.13797C>A (p.Gly4599=) c.275C>A c.13782C>A (p.Gly4594=) c.13812C>A (p.Gly4604=) c.13728C>A (p.Gly4576=) | |
| 19 | g.38572087C= | CA2335088382 | RYR1 | c.751C= c.2148C= c.2120C= c.13815C= (p.Gly4605=) c.13800C= (p.Gly4600=) c.13797C= (p.Gly4599=) c.275C= c.13782C= (p.Gly4594=) c.13812C= (p.Gly4604=) c.13728C= (p.Gly4576=) | |
| 19 | g.38572087C>G | CA060555 | RYR1 | c.751C>G c.2148C>G c.2120C>G c.13815C>G (p.Gly4605=) c.13800C>G (p.Gly4600=) c.13797C>G (p.Gly4599=) c.275C>G c.13782C>G (p.Gly4594=) c.13812C>G (p.Gly4604=) c.13728C>G (p.Gly4576=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38572087C>T | CA507355981 | RYR1 | c.751C>T c.2148C>T c.2120C>T c.13815C>T (p.Gly4605=) c.13800C>T (p.Gly4600=) c.13797C>T (p.Gly4599=) c.275C>T c.13782C>T (p.Gly4594=) c.13812C>T (p.Gly4604=) c.13728C>T (p.Gly4576=) | |
| 19 | g.38572088T>A | CA405680477 | RYR1 | c.752T>A c.2149T>A c.2121T>A c.13816T>A (p.Ser4606Thr) c.13801T>A (p.Ser4601Thr) c.13798T>A (p.Ser4600Thr) c.276T>A c.13783T>A (p.Ser4595Thr) c.13813T>A (p.Ser4605Thr) c.13729T>A (p.Ser4577Thr) | |
| 19 | g.38572088T>C | CA405680467 | RYR1 | c.752T>C c.2149T>C c.2121T>C c.13816T>C (p.Ser4606Pro) c.13801T>C (p.Ser4601Pro) c.13798T>C (p.Ser4600Pro) c.276T>C c.13783T>C (p.Ser4595Pro) c.13813T>C (p.Ser4605Pro) c.13729T>C (p.Ser4577Pro) | |
| 19 | g.38572088T>G | CA405680464 | RYR1 | c.752T>G c.2149T>G c.2121T>G c.13816T>G (p.Ser4606Ala) c.13801T>G (p.Ser4601Ala) c.13798T>G (p.Ser4600Ala) c.276T>G c.13783T>G (p.Ser4595Ala) c.13813T>G (p.Ser4605Ala) c.13729T>G (p.Ser4577Ala) | dbSNP |
| 19 | g.38572088T= | CA2335088383 | RYR1 | c.752T= c.2149T= c.2121T= c.13816T= (p.Ser4606=) c.13801T= (p.Ser4601=) c.13798T= (p.Ser4600=) c.276T= c.13783T= (p.Ser4595=) c.13813T= (p.Ser4605=) c.13729T= (p.Ser4577=) | |
| 19 | g.38572089C>A | CA405680480 | RYR1 | c.753C>A c.2150C>A c.2122C>A c.13817C>A (p.Ser4606Tyr) c.13802C>A (p.Ser4601Tyr) c.13799C>A (p.Ser4600Tyr) c.277C>A c.13784C>A (p.Ser4595Tyr) c.13814C>A (p.Ser4605Tyr) c.13730C>A (p.Ser4577Tyr) | |
| 19 | g.38572089C= | CA2335088384 | RYR1 | c.753C= c.2150C= c.2122C= c.13817C= (p.Ser4606=) c.13802C= (p.Ser4601=) c.13799C= (p.Ser4600=) c.277C= c.13784C= (p.Ser4595=) c.13814C= (p.Ser4605=) c.13730C= (p.Ser4577=) | |
| 19 | g.38572089C>G | CA405680483 | RYR1 | c.753C>G c.2150C>G c.2122C>G c.13817C>G (p.Ser4606Cys) c.13802C>G (p.Ser4601Cys) c.13799C>G (p.Ser4600Cys) c.277C>G c.13784C>G (p.Ser4595Cys) c.13814C>G (p.Ser4605Cys) c.13730C>G (p.Ser4577Cys) | |
| 19 | g.38572089C>T | CA405680484 | RYR1 | c.753C>T c.2150C>T c.2122C>T c.13817C>T (p.Ser4606Phe) c.13802C>T (p.Ser4601Phe) c.13799C>T (p.Ser4600Phe) c.277C>T c.13784C>T (p.Ser4595Phe) c.13814C>T (p.Ser4605Phe) c.13730C>T (p.Ser4577Phe) | dbSNP |
| 19 | g.38572090T>A | CA507355984 | RYR1 | c.754T>A c.2151T>A c.2123T>A c.13818T>A (p.Ser4606=) c.13803T>A (p.Ser4601=) c.13800T>A (p.Ser4600=) c.278T>A c.13785T>A (p.Ser4595=) c.13815T>A (p.Ser4605=) c.13731T>A (p.Ser4577=) | |
| 19 | g.38572090T>C | CA507355982 | RYR1 | c.754T>C c.2151T>C c.2123T>C c.13818T>C (p.Ser4606=) c.13803T>C (p.Ser4601=) c.13800T>C (p.Ser4600=) c.278T>C c.13785T>C (p.Ser4595=) c.13815T>C (p.Ser4605=) c.13731T>C (p.Ser4577=) | |
| 19 | g.38572090T>G | CA507355983 | RYR1 | c.754T>G c.2151T>G c.2123T>G c.13818T>G (p.Ser4606=) c.13803T>G (p.Ser4601=) c.13800T>G (p.Ser4600=) c.278T>G c.13785T>G (p.Ser4595=) c.13815T>G (p.Ser4605=) c.13731T>G (p.Ser4577=) | |
| 19 | g.38572091G>A | CA405680485 | RYR1 | c.755G>A c.2152G>A c.2124G>A c.13819G>A (p.Gly4607Ser) c.13804G>A (p.Gly4602Ser) c.13801G>A (p.Gly4601Ser) c.279G>A c.13786G>A (p.Gly4596Ser) c.13816G>A (p.Gly4606Ser) c.13732G>A (p.Gly4578Ser) | |
| 19 | g.38572091G>C | CA405680486 | RYR1 | c.755G>C c.2152G>C c.2124G>C c.13819G>C (p.Gly4607Arg) c.13804G>C (p.Gly4602Arg) c.13801G>C (p.Gly4601Arg) c.279G>C c.13786G>C (p.Gly4596Arg) c.13816G>C (p.Gly4606Arg) c.13732G>C (p.Gly4578Arg) | |
| 19 | g.38572091G>T | CA405680487 | RYR1 | c.755G>T c.2152G>T c.2124G>T c.13819G>T (p.Gly4607Cys) c.13804G>T (p.Gly4602Cys) c.13801G>T (p.Gly4601Cys) c.279G>T c.13786G>T (p.Gly4596Cys) c.13816G>T (p.Gly4606Cys) c.13732G>T (p.Gly4578Cys) | |
| 19 | g.38572092G>A | CA405680488 | RYR1 | c.756G>A c.2153G>A c.2125G>A c.13820G>A (p.Gly4607Asp) c.13805G>A (p.Gly4602Asp) c.13802G>A (p.Gly4601Asp) c.280G>A c.13787G>A (p.Gly4596Asp) c.13817G>A (p.Gly4606Asp) c.13733G>A (p.Gly4578Asp) | |
| 19 | g.38572092G>C | CA405680490 | RYR1 | c.756G>C c.2153G>C c.2125G>C c.13820G>C (p.Gly4607Ala) c.13805G>C (p.Gly4602Ala) c.13802G>C (p.Gly4601Ala) c.280G>C c.13787G>C (p.Gly4596Ala) c.13817G>C (p.Gly4606Ala) c.13733G>C (p.Gly4578Ala) | |
| 19 | g.38572092G>T | CA405680489 | RYR1 | c.756G>T c.2153G>T c.2125G>T c.13820G>T (p.Gly4607Val) c.13805G>T (p.Gly4602Val) c.13802G>T (p.Gly4601Val) c.280G>T c.13787G>T (p.Gly4596Val) c.13817G>T (p.Gly4606Val) c.13733G>T (p.Gly4578Val) |