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 |
|---|---|---|---|---|---|
| 1 | g.237655773A= | CA2487429692 | RYR2 | c.7966-48A= (n.7966-48A=) c.155-48A= c.7918-48A= (n.7918-48A=) c.7996-48A= (n.7996-48A=) c.7993-48A= (n.7993-48A=) c.7963-48A= (n.7963-48A=) n.8277-48A= c.7975-48A= (n.7975-48A=) n.8310-48A= | |
| 1 | g.237655773A>G | CA087546 | RYR2 | c.7966-48A>G (n.7966-48A>G) c.155-48A>G c.7918-48A>G (n.7918-48A>G) c.7996-48A>G (n.7996-48A>G) c.7993-48A>G (n.7993-48A>G) c.7963-48A>G (n.7963-48A>G) n.8277-48A>G c.7975-48A>G (n.7975-48A>G) n.8310-48A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237655773A>T | CA087547 | RYR2 | c.7966-48A>T (n.7966-48A>T) c.155-48A>T c.7918-48A>T (n.7918-48A>T) c.7996-48A>T (n.7996-48A>T) c.7993-48A>T (n.7993-48A>T) c.7963-48A>T (n.7963-48A>T) n.8277-48A>T c.7975-48A>T (n.7975-48A>T) n.8310-48A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237655774C>A | CA2651206543 | RYR2 | c.7966-47C>A (n.7966-47C>A) c.155-47C>A c.7918-47C>A (n.7918-47C>A) c.7996-47C>A (n.7996-47C>A) c.7993-47C>A (n.7993-47C>A) c.7963-47C>A (n.7963-47C>A) n.8277-47C>A c.7975-47C>A (n.7975-47C>A) n.8310-47C>A | gnomAD v4 |
| 1 | g.237655774C>G | CA2698436944 | RYR2 | c.7966-47C>G (n.7966-47C>G) c.155-47C>G c.7918-47C>G (n.7918-47C>G) c.7996-47C>G (n.7996-47C>G) c.7993-47C>G (n.7993-47C>G) c.7963-47C>G (n.7963-47C>G) n.8277-47C>G c.7975-47C>G (n.7975-47C>G) n.8310-47C>G | dbSNP |
| 1 | g.237655777T>C | CA2651206545 | RYR2 | c.7966-44T>C (n.7966-44T>C) c.155-44T>C c.7918-44T>C (n.7918-44T>C) c.7996-44T>C (n.7996-44T>C) c.7993-44T>C (n.7993-44T>C) c.7963-44T>C (n.7963-44T>C) n.8277-44T>C c.7975-44T>C (n.7975-44T>C) n.8310-44T>C | gnomAD v4 |
| 1 | g.237655778T>C | CA2651206546 | RYR2 | c.7966-43T>C (n.7966-43T>C) c.155-43T>C c.7918-43T>C (n.7918-43T>C) c.7996-43T>C (n.7996-43T>C) c.7993-43T>C (n.7993-43T>C) c.7963-43T>C (n.7963-43T>C) n.8277-43T>C c.7975-43T>C (n.7975-43T>C) n.8310-43T>C | gnomAD v4 |
| 1 | g.237655779G>A | CA2651206547 | RYR2 | c.7966-42G>A (n.7966-42G>A) c.155-42G>A c.7918-42G>A (n.7918-42G>A) c.7996-42G>A (n.7996-42G>A) c.7993-42G>A (n.7993-42G>A) c.7963-42G>A (n.7963-42G>A) n.8277-42G>A c.7975-42G>A (n.7975-42G>A) n.8310-42G>A | gnomAD v4 |
| 1 | g.237655779G>C | CA2651206548 | RYR2 | c.7966-42G>C (n.7966-42G>C) c.155-42G>C c.7918-42G>C (n.7918-42G>C) c.7996-42G>C (n.7996-42G>C) c.7993-42G>C (n.7993-42G>C) c.7963-42G>C (n.7963-42G>C) n.8277-42G>C c.7975-42G>C (n.7975-42G>C) n.8310-42G>C | gnomAD v4 |
| 1 | g.237655779G>T | CA2651206549 | RYR2 | c.7966-42G>T (n.7966-42G>T) c.155-42G>T c.7918-42G>T (n.7918-42G>T) c.7996-42G>T (n.7996-42G>T) c.7993-42G>T (n.7993-42G>T) c.7963-42G>T (n.7963-42G>T) n.8277-42G>T c.7975-42G>T (n.7975-42G>T) n.8310-42G>T | gnomAD v4 |
| 1 | g.237655780C>A | CA2651206551 | RYR2 | c.7966-41C>A (n.7966-41C>A) c.155-41C>A c.7918-41C>A (n.7918-41C>A) c.7996-41C>A (n.7996-41C>A) c.7993-41C>A (n.7993-41C>A) c.7963-41C>A (n.7963-41C>A) n.8277-41C>A c.7975-41C>A (n.7975-41C>A) n.8310-41C>A | gnomAD v4 |
| 1 | g.237655780C= | CA1143762760 | RYR2 | c.7966-41C= (n.7966-41C=) c.155-41C= c.7918-41C= (n.7918-41C=) c.7996-41C= (n.7996-41C=) c.7993-41C= (n.7993-41C=) c.7963-41C= (n.7963-41C=) n.8277-41C= c.7975-41C= (n.7975-41C=) n.8310-41C= | |
| 1 | g.237655780C>T | CA087545 | RYR2 | c.7966-41C>T (n.7966-41C>T) c.155-41C>T c.7918-41C>T (n.7918-41C>T) c.7996-41C>T (n.7996-41C>T) c.7993-41C>T (n.7993-41C>T) c.7963-41C>T (n.7963-41C>T) n.8277-41C>T c.7975-41C>T (n.7975-41C>T) n.8310-41C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237655781C>A | CA2651206553 | RYR2 | c.7966-40C>A (n.7966-40C>A) c.155-40C>A c.7918-40C>A (n.7918-40C>A) c.7996-40C>A (n.7996-40C>A) c.7993-40C>A (n.7993-40C>A) c.7963-40C>A (n.7963-40C>A) n.8277-40C>A c.7975-40C>A (n.7975-40C>A) n.8310-40C>A | gnomAD v4 |
| 1 | g.237655781C>T | CA2651206552 | RYR2 | c.7966-40C>T (n.7966-40C>T) c.155-40C>T c.7918-40C>T (n.7918-40C>T) c.7996-40C>T (n.7996-40C>T) c.7993-40C>T (n.7993-40C>T) c.7963-40C>T (n.7963-40C>T) n.8277-40C>T c.7975-40C>T (n.7975-40C>T) n.8310-40C>T | gnomAD v4 |
| 1 | g.237655782A= | CA1143941780 | RYR2 | c.7966-39A= (n.7966-39A=) c.155-39A= c.7918-39A= (n.7918-39A=) c.7996-39A= (n.7996-39A=) c.7993-39A= (n.7993-39A=) c.7963-39A= (n.7963-39A=) n.8277-39A= c.7975-39A= (n.7975-39A=) n.8310-39A= | |
| 1 | g.237655782A>G | CA087544 | RYR2 | c.7966-39A>G (n.7966-39A>G) c.155-39A>G c.7918-39A>G (n.7918-39A>G) c.7996-39A>G (n.7996-39A>G) c.7993-39A>G (n.7993-39A>G) c.7963-39A>G (n.7963-39A>G) n.8277-39A>G c.7975-39A>G (n.7975-39A>G) n.8310-39A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237655783T>C | CA2574457860 | RYR2 | c.7966-38T>C (n.7966-38T>C) c.155-38T>C c.7918-38T>C (n.7918-38T>C) c.7996-38T>C (n.7996-38T>C) c.7993-38T>C (n.7993-38T>C) c.7963-38T>C (n.7963-38T>C) n.8277-38T>C c.7975-38T>C (n.7975-38T>C) n.8310-38T>C | |
| 1 | g.237655784A= | CA2487429693 | RYR2 | c.7966-37A= (n.7966-37A=) c.155-37A= c.7918-37A= (n.7918-37A=) c.7996-37A= (n.7996-37A=) c.7993-37A= (n.7993-37A=) c.7963-37A= (n.7963-37A=) n.8277-37A= c.7975-37A= (n.7975-37A=) n.8310-37A= | |
| 1 | g.237655784A>G | CA2487429694 | RYR2 | c.7966-37A>G (n.7966-37A>G) c.155-37A>G c.7918-37A>G (n.7918-37A>G) c.7996-37A>G (n.7996-37A>G) c.7993-37A>G (n.7993-37A>G) c.7963-37A>G (n.7963-37A>G) n.8277-37A>G c.7975-37A>G (n.7975-37A>G) n.8310-37A>G | dbSNP gnomAD v4 |
| 1 | g.237655784A>T | CA529912913 | RYR2 | c.7966-37A>T (n.7966-37A>T) c.155-37A>T c.7918-37A>T (n.7918-37A>T) c.7996-37A>T (n.7996-37A>T) c.7993-37A>T (n.7993-37A>T) c.7963-37A>T (n.7963-37A>T) n.8277-37A>T c.7975-37A>T (n.7975-37A>T) n.8310-37A>T | dbSNP gnomAD v2 |
| 1 | g.237655785T>C | CA39802281 | RYR2 | c.7966-36T>C (n.7966-36T>C) c.155-36T>C c.7918-36T>C (n.7918-36T>C) c.7996-36T>C (n.7996-36T>C) c.7993-36T>C (n.7993-36T>C) c.7963-36T>C (n.7963-36T>C) n.8277-36T>C c.7975-36T>C (n.7975-36T>C) n.8310-36T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237655785T>G | CA2487429695 | RYR2 | c.7966-36T>G (n.7966-36T>G) c.155-36T>G c.7918-36T>G (n.7918-36T>G) c.7996-36T>G (n.7996-36T>G) c.7993-36T>G (n.7993-36T>G) c.7963-36T>G (n.7963-36T>G) n.8277-36T>G c.7975-36T>G (n.7975-36T>G) n.8310-36T>G | dbSNP |
| 1 | g.237655785T= | CA1143489276 | RYR2 | c.7966-36T= (n.7966-36T=) c.155-36T= c.7918-36T= (n.7918-36T=) c.7996-36T= (n.7996-36T=) c.7993-36T= (n.7993-36T=) c.7963-36T= (n.7963-36T=) n.8277-36T= c.7975-36T= (n.7975-36T=) n.8310-36T= | |
| 1 | g.237655786A= | CA2487429696 | RYR2 | c.7966-35A= (n.7966-35A=) c.155-35A= c.7918-35A= (n.7918-35A=) c.7996-35A= (n.7996-35A=) c.7993-35A= (n.7993-35A=) c.7963-35A= (n.7963-35A=) n.8277-35A= c.7975-35A= (n.7975-35A=) n.8310-35A= | |
| 1 | g.237655786A>G | CA087543 | RYR2 | c.7966-35A>G (n.7966-35A>G) c.155-35A>G c.7918-35A>G (n.7918-35A>G) c.7996-35A>G (n.7996-35A>G) c.7993-35A>G (n.7993-35A>G) c.7963-35A>G (n.7963-35A>G) n.8277-35A>G c.7975-35A>G (n.7975-35A>G) n.8310-35A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237655786A>T | CA2651206567 | RYR2 | c.7966-35A>T (n.7966-35A>T) c.155-35A>T c.7918-35A>T (n.7918-35A>T) c.7996-35A>T (n.7996-35A>T) c.7993-35A>T (n.7993-35A>T) c.7963-35A>T (n.7963-35A>T) n.8277-35A>T c.7975-35A>T (n.7975-35A>T) n.8310-35A>T | gnomAD v4 |
| 1 | g.237655787G>A | CA087542 | RYR2 | c.7966-34G>A (n.7966-34G>A) c.155-34G>A c.7918-34G>A (n.7918-34G>A) c.7996-34G>A (n.7996-34G>A) c.7993-34G>A (n.7993-34G>A) c.7963-34G>A (n.7963-34G>A) n.8277-34G>A c.7975-34G>A (n.7975-34G>A) n.8310-34G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237655787G= | CA2487429697 | RYR2 | c.7966-34G= (n.7966-34G=) c.155-34G= c.7918-34G= (n.7918-34G=) c.7996-34G= (n.7996-34G=) c.7993-34G= (n.7993-34G=) c.7963-34G= (n.7963-34G=) n.8277-34G= c.7975-34G= (n.7975-34G=) n.8310-34G= | |
| 1 | g.237655789_237655804dup | CA2651206568 | RYR2 | c.7966-32_7966-17dup (n.7966-32_7966-17dup) c.155-32_155-17dup c.7918-32_7918-17dup (n.7918-32_7918-17dup) c.7996-32_7996-17dup (n.7996-32_7996-17dup) c.7993-32_7993-17dup (n.7993-32_7993-17dup) c.7963-32_7963-17dup (n.7963-32_7963-17dup) n.8277-32_8277-17dup c.7975-32_7975-17dup (n.7975-32_7975-17dup) n.8310-32_8310-17dup | gnomAD v4 |
| 1 | g.237655788T>C | CA2574457861 | RYR2 | c.7966-33T>C (n.7966-33T>C) c.155-33T>C c.7918-33T>C (n.7918-33T>C) c.7996-33T>C (n.7996-33T>C) c.7993-33T>C (n.7993-33T>C) c.7963-33T>C (n.7963-33T>C) n.8277-33T>C c.7975-33T>C (n.7975-33T>C) n.8310-33T>C | gnomAD v4 |
| 1 | g.237655788dup | CA2651206572 | RYR2 | c.7966-33dup (n.7966-33dup) c.155-33dup c.7918-33dup (n.7918-33dup) c.7996-33dup (n.7996-33dup) c.7993-33dup (n.7993-33dup) c.7963-33dup (n.7963-33dup) n.8277-33dup c.7975-33dup (n.7975-33dup) n.8310-33dup | gnomAD v4 |
| 1 | g.237655789A>T | CA2651206574 | RYR2 | c.7966-32A>T (n.7966-32A>T) c.155-32A>T c.7918-32A>T (n.7918-32A>T) c.7996-32A>T (n.7996-32A>T) c.7993-32A>T (n.7993-32A>T) c.7963-32A>T (n.7963-32A>T) n.8277-32A>T c.7975-32A>T (n.7975-32A>T) n.8310-32A>T | gnomAD v4 |
| 1 | g.237655790del | CA2651206573 | RYR2 | c.7966-31del (n.7966-31del) c.155-31del c.7918-31del (n.7918-31del) c.7996-31del (n.7996-31del) c.7993-31del (n.7993-31del) c.7963-31del (n.7963-31del) n.8277-31del c.7975-31del (n.7975-31del) n.8310-31del | gnomAD v4 |
| 1 | g.237655789_237655790insT | CA2651206576 | RYR2 | c.7966-32_7966-31insT (n.7966-32_7966-31insT) c.155-32_155-31insT c.7918-32_7918-31insT (n.7918-32_7918-31insT) c.7996-32_7996-31insT (n.7996-32_7996-31insT) c.7993-32_7993-31insT (n.7993-32_7993-31insT) c.7963-32_7963-31insT (n.7963-32_7963-31insT) n.8277-32_8277-31insT c.7975-32_7975-31insT (n.7975-32_7975-31insT) n.8310-32_8310-31insT | gnomAD v4 |
| 1 | g.237655790A>T | CA2651206575 | RYR2 | c.7966-31A>T (n.7966-31A>T) c.155-31A>T c.7918-31A>T (n.7918-31A>T) c.7996-31A>T (n.7996-31A>T) c.7993-31A>T (n.7993-31A>T) c.7963-31A>T (n.7963-31A>T) n.8277-31A>T c.7975-31A>T (n.7975-31A>T) n.8310-31A>T | gnomAD v4 |
| 1 | g.237655790_237655792delinsATT | CA2487429698 | RYR2 | c.7966-31_7966-29delinsATT (n.7966-31_7966-29delinsATT) c.155-31_155-29delinsATT c.7918-31_7918-29delinsATT (n.7918-31_7918-29delinsATT) c.7996-31_7996-29delinsATT (n.7996-31_7996-29delinsATT) c.7993-31_7993-29delinsATT (n.7993-31_7993-29delinsATT) c.7963-31_7963-29delinsATT (n.7963-31_7963-29delinsATT) n.8277-31_8277-29delinsATT c.7975-31_7975-29delinsATT (n.7975-31_7975-29delinsATT) n.8310-31_8310-29delinsATT | |
| 1 | g.237655791T>A | CA2651206585 | RYR2 | c.7966-30T>A (n.7966-30T>A) c.155-30T>A c.7918-30T>A (n.7918-30T>A) c.7996-30T>A (n.7996-30T>A) c.7993-30T>A (n.7993-30T>A) c.7963-30T>A (n.7963-30T>A) n.8277-30T>A c.7975-30T>A (n.7975-30T>A) n.8310-30T>A | gnomAD v4 |
| 1 | g.237655801dup | CA1474944 | RYR2 | c.7966-20dup (n.7966-20dup) c.155-20dup c.7918-20dup (n.7918-20dup) c.7996-20dup (n.7996-20dup) c.7993-20dup (n.7993-20dup) c.7963-20dup (n.7963-20dup) n.8277-20dup c.7975-20dup (n.7975-20dup) n.8310-20dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237655800_237655801dup | CA1474945 | RYR2 | c.7966-21_7966-20dup (n.7966-21_7966-20dup) c.155-21_155-20dup c.7918-21_7918-20dup (n.7918-21_7918-20dup) c.7996-21_7996-20dup (n.7996-21_7996-20dup) c.7993-21_7993-20dup (n.7993-21_7993-20dup) c.7963-21_7963-20dup (n.7963-21_7963-20dup) n.8277-21_8277-20dup c.7975-21_7975-20dup (n.7975-21_7975-20dup) n.8310-21_8310-20dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237655799_237655801dup | CA2651206577 | RYR2 | c.7966-22_7966-20dup (n.7966-22_7966-20dup) c.155-22_155-20dup c.7918-22_7918-20dup (n.7918-22_7918-20dup) c.7996-22_7996-20dup (n.7996-22_7996-20dup) c.7993-22_7993-20dup (n.7993-22_7993-20dup) c.7963-22_7963-20dup (n.7963-22_7963-20dup) n.8277-22_8277-20dup c.7975-22_7975-20dup (n.7975-22_7975-20dup) n.8310-22_8310-20dup | gnomAD v4 |
| 1 | g.237655801del | CA010808 | RYR2 | c.7966-20del (n.7966-20del) c.155-20del c.7918-20del (n.7918-20del) c.7996-20del (n.7996-20del) c.7993-20del (n.7993-20del) c.7963-20del (n.7963-20del) n.8277-20del c.7975-20del (n.7975-20del) n.8310-20del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.237655800_237655801del | CA087539 | RYR2 | c.7966-21_7966-20del (n.7966-21_7966-20del) c.155-21_155-20del c.7918-21_7918-20del (n.7918-21_7918-20del) c.7996-21_7996-20del (n.7996-21_7996-20del) c.7993-21_7993-20del (n.7993-21_7993-20del) c.7963-21_7963-20del (n.7963-21_7963-20del) n.8277-21_8277-20del c.7975-21_7975-20del (n.7975-21_7975-20del) n.8310-21_8310-20del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237655799_237655801del | CA529912914 | RYR2 | c.7966-22_7966-20del (n.7966-22_7966-20del) c.155-22_155-20del c.7918-22_7918-20del (n.7918-22_7918-20del) c.7996-22_7996-20del (n.7996-22_7996-20del) c.7993-22_7993-20del (n.7993-22_7993-20del) c.7963-22_7963-20del (n.7963-22_7963-20del) n.8277-22_8277-20del c.7975-22_7975-20del (n.7975-22_7975-20del) n.8310-22_8310-20del | gnomAD v2 gnomAD v4 |
| 1 | g.237655791_237655792insG | CA2651206593 | RYR2 | c.7966-30_7966-29insG (n.7966-30_7966-29insG) c.155-30_155-29insG c.7918-30_7918-29insG (n.7918-30_7918-29insG) c.7996-30_7996-29insG (n.7996-30_7996-29insG) c.7993-30_7993-29insG (n.7993-30_7993-29insG) c.7963-30_7963-29insG (n.7963-30_7963-29insG) n.8277-30_8277-29insG c.7975-30_7975-29insG (n.7975-30_7975-29insG) n.8310-30_8310-29insG | gnomAD v4 |
| 1 | g.237655792T>A | CA39802364 | RYR2 | c.7966-29T>A (n.7966-29T>A) c.155-29T>A c.7918-29T>A (n.7918-29T>A) c.7996-29T>A (n.7996-29T>A) c.7993-29T>A (n.7993-29T>A) c.7963-29T>A (n.7963-29T>A) n.8277-29T>A c.7975-29T>A (n.7975-29T>A) n.8310-29T>A | dbSNP |
| 1 | g.237655792T= | CA1141075043 | RYR2 | c.7966-29T= (n.7966-29T=) c.155-29T= c.7918-29T= (n.7918-29T=) c.7996-29T= (n.7996-29T=) c.7993-29T= (n.7993-29T=) c.7963-29T= (n.7963-29T=) n.8277-29T= c.7975-29T= (n.7975-29T=) n.8310-29T= | |
| 1 | g.237655794T>A | CA39802370 | RYR2 | c.7966-27T>A (n.7966-27T>A) c.155-27T>A c.7918-27T>A (n.7918-27T>A) c.7996-27T>A (n.7996-27T>A) c.7993-27T>A (n.7993-27T>A) c.7963-27T>A (n.7963-27T>A) n.8277-27T>A c.7975-27T>A (n.7975-27T>A) n.8310-27T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237655794T= | CA1146487735 | RYR2 | c.7966-27T= (n.7966-27T=) c.155-27T= c.7918-27T= (n.7918-27T=) c.7996-27T= (n.7996-27T=) c.7993-27T= (n.7993-27T=) c.7963-27T= (n.7963-27T=) n.8277-27T= c.7975-27T= (n.7975-27T=) n.8310-27T= | |
| 1 | g.237655795T>A | CA2651206595 | RYR2 | c.7966-26T>A (n.7966-26T>A) c.155-26T>A c.7918-26T>A (n.7918-26T>A) c.7996-26T>A (n.7996-26T>A) c.7993-26T>A (n.7993-26T>A) c.7963-26T>A (n.7963-26T>A) n.8277-26T>A c.7975-26T>A (n.7975-26T>A) n.8310-26T>A | gnomAD v4 |
| 1 | g.237655795T>C | CA529912915 | RYR2 | c.7966-26T>C (n.7966-26T>C) c.155-26T>C c.7918-26T>C (n.7918-26T>C) c.7996-26T>C (n.7996-26T>C) c.7993-26T>C (n.7993-26T>C) c.7963-26T>C (n.7963-26T>C) n.8277-26T>C c.7975-26T>C (n.7975-26T>C) n.8310-26T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237655795T= | CA2487429699 | RYR2 | c.7966-26T= (n.7966-26T=) c.155-26T= c.7918-26T= (n.7918-26T=) c.7996-26T= (n.7996-26T=) c.7993-26T= (n.7993-26T=) c.7963-26T= (n.7963-26T=) n.8277-26T= c.7975-26T= (n.7975-26T=) n.8310-26T= | |
| 1 | g.237655796T>G | CA087538 | RYR2 | c.7966-25T>G (n.7966-25T>G) c.155-25T>G c.7918-25T>G (n.7918-25T>G) c.7996-25T>G (n.7996-25T>G) c.7993-25T>G (n.7993-25T>G) c.7963-25T>G (n.7963-25T>G) n.8277-25T>G c.7975-25T>G (n.7975-25T>G) n.8310-25T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237655796T= | CA2487429700 | RYR2 | c.7966-25T= (n.7966-25T=) c.155-25T= c.7918-25T= (n.7918-25T=) c.7996-25T= (n.7996-25T=) c.7993-25T= (n.7993-25T=) c.7963-25T= (n.7963-25T=) n.8277-25T= c.7975-25T= (n.7975-25T=) n.8310-25T= | |
| 1 | g.237655797T>C | CA2651206602 | RYR2 | c.7966-24T>C (n.7966-24T>C) c.155-24T>C c.7918-24T>C (n.7918-24T>C) c.7996-24T>C (n.7996-24T>C) c.7993-24T>C (n.7993-24T>C) c.7963-24T>C (n.7963-24T>C) n.8277-24T>C c.7975-24T>C (n.7975-24T>C) n.8310-24T>C | gnomAD v4 |
| 1 | g.237655799T>C | CA2651206603 | RYR2 | c.7966-22T>C (n.7966-22T>C) c.155-22T>C c.7918-22T>C (n.7918-22T>C) c.7996-22T>C (n.7996-22T>C) c.7993-22T>C (n.7993-22T>C) c.7963-22T>C (n.7963-22T>C) n.8277-22T>C c.7975-22T>C (n.7975-22T>C) n.8310-22T>C | gnomAD v4 |
| 1 | g.237655801T>C | CA39802392 | RYR2 | c.7966-20T>C (n.7966-20T>C) c.155-20T>C c.7918-20T>C (n.7918-20T>C) c.7996-20T>C (n.7996-20T>C) c.7993-20T>C (n.7993-20T>C) c.7963-20T>C (n.7963-20T>C) n.8277-20T>C c.7975-20T>C (n.7975-20T>C) n.8310-20T>C | dbSNP |
| 1 | g.237655801T= | CA2487429701 | RYR2 | c.7966-20T= (n.7966-20T=) c.155-20T= c.7918-20T= (n.7918-20T=) c.7996-20T= (n.7996-20T=) c.7993-20T= (n.7993-20T=) c.7963-20T= (n.7963-20T=) n.8277-20T= c.7975-20T= (n.7975-20T=) n.8310-20T= | |
| 1 | g.237655801_237655802delinsTG | CA2487429702 | RYR2 | c.7966-20_7966-19delinsTG (n.7966-20_7966-19delinsTG) c.155-20_155-19delinsTG c.7918-20_7918-19delinsTG (n.7918-20_7918-19delinsTG) c.7996-20_7996-19delinsTG (n.7996-20_7996-19delinsTG) c.7993-20_7993-19delinsTG (n.7993-20_7993-19delinsTG) c.7963-20_7963-19delinsTG (n.7963-20_7963-19delinsTG) n.8277-20_8277-19delinsTG c.7975-20_7975-19delinsTG (n.7975-20_7975-19delinsTG) n.8310-20_8310-19delinsTG | |
| 1 | g.237655801_237655810delinsTGGTCCTCCA | CA2487429703 | RYR2 | c.7966-20_7966-11delinsTGGTCCTCCA (n.7966-20_7966-11delinsTGGTCCTCCA) c.155-20_155-11delinsTGGTCCTCCA c.7918-20_7918-11delinsTGGTCCTCCA (n.7918-20_7918-11delinsTGGTCCTCCA) c.7996-20_7996-11delinsTGGTCCTCCA (n.7996-20_7996-11delinsTGGTCCTCCA) c.7993-20_7993-11delinsTGGTCCTCCA (n.7993-20_7993-11delinsTGGTCCTCCA) c.7963-20_7963-11delinsTGGTCCTCCA (n.7963-20_7963-11delinsTGGTCCTCCA) n.8277-20_8277-11delinsTGGTCCTCCA c.7975-20_7975-11delinsTGGTCCTCCA (n.7975-20_7975-11delinsTGGTCCTCCA) n.8310-20_8310-11delinsTGGTCCTCCA | |
| 1 | g.237655802G>A | CA2651206612 | RYR2 | c.7966-19G>A (n.7966-19G>A) c.155-19G>A c.7918-19G>A (n.7918-19G>A) c.7996-19G>A (n.7996-19G>A) c.7993-19G>A (n.7993-19G>A) c.7963-19G>A (n.7963-19G>A) n.8277-19G>A c.7975-19G>A (n.7975-19G>A) n.8310-19G>A | gnomAD v4 |
| 1 | g.237655802G= | CA2487429704 | RYR2 | c.7966-19G= (n.7966-19G=) c.155-19G= c.7918-19G= (n.7918-19G=) c.7996-19G= (n.7996-19G=) c.7993-19G= (n.7993-19G=) c.7963-19G= (n.7963-19G=) n.8277-19G= c.7975-19G= (n.7975-19G=) n.8310-19G= | |
| 1 | g.237655802G>T | CA529912918 | RYR2 | c.7966-19G>T (n.7966-19G>T) c.155-19G>T c.7918-19G>T (n.7918-19G>T) c.7996-19G>T (n.7996-19G>T) c.7993-19G>T (n.7993-19G>T) c.7963-19G>T (n.7963-19G>T) n.8277-19G>T c.7975-19G>T (n.7975-19G>T) n.8310-19G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237655802_237655803del | CA529912920 | RYR2 | c.7966-19_7966-18del (n.7966-19_7966-18del) c.155-19_155-18del c.7918-19_7918-18del (n.7918-19_7918-18del) c.7996-19_7996-18del (n.7996-19_7996-18del) c.7993-19_7993-18del (n.7993-19_7993-18del) c.7963-19_7963-18del (n.7963-19_7963-18del) n.8277-19_8277-18del c.7975-19_7975-18del (n.7975-19_7975-18del) n.8310-19_8310-18del | gnomAD v2 gnomAD v4 |
| 1 | g.237655803del | CA529912919 | RYR2 | c.7966-18del (n.7966-18del) c.155-18del c.7918-18del (n.7918-18del) c.7996-18del (n.7996-18del) c.7993-18del (n.7993-18del) c.7963-18del (n.7963-18del) n.8277-18del c.7975-18del (n.7975-18del) n.8310-18del | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237655802_237655806del | CA2651206617 | RYR2 | c.7966-19_7966-15del (n.7966-19_7966-15del) c.155-19_155-15del c.7918-19_7918-15del (n.7918-19_7918-15del) c.7996-19_7996-15del (n.7996-19_7996-15del) c.7993-19_7993-15del (n.7993-19_7993-15del) c.7963-19_7963-15del (n.7963-19_7963-15del) n.8277-19_8277-15del c.7975-19_7975-15del (n.7975-19_7975-15del) n.8310-19_8310-15del | gnomAD v4 |
| 1 | g.237655802_237655810del | CA529912916 | RYR2 | c.7966-19_7966-11del (n.7966-19_7966-11del) c.155-19_155-11del c.7918-19_7918-11del (n.7918-19_7918-11del) c.7996-19_7996-11del (n.7996-19_7996-11del) c.7993-19_7993-11del (n.7993-19_7993-11del) c.7963-19_7963-11del (n.7963-19_7963-11del) n.8277-19_8277-11del c.7975-19_7975-11del (n.7975-19_7975-11del) n.8310-19_8310-11del | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237655803G>A | CA087537 | RYR2 | c.7966-18G>A (n.7966-18G>A) c.155-18G>A c.7918-18G>A (n.7918-18G>A) c.7996-18G>A (n.7996-18G>A) c.7993-18G>A (n.7993-18G>A) c.7963-18G>A (n.7963-18G>A) n.8277-18G>A c.7975-18G>A (n.7975-18G>A) n.8310-18G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237655803G= | CA2487429705 | RYR2 | c.7966-18G= (n.7966-18G=) c.155-18G= c.7918-18G= (n.7918-18G=) c.7996-18G= (n.7996-18G=) c.7993-18G= (n.7993-18G=) c.7963-18G= (n.7963-18G=) n.8277-18G= c.7975-18G= (n.7975-18G=) n.8310-18G= | |
| 1 | g.237655803G>T | CA529912923 | RYR2 | c.7966-18G>T (n.7966-18G>T) c.155-18G>T c.7918-18G>T (n.7918-18G>T) c.7996-18G>T (n.7996-18G>T) c.7993-18G>T (n.7993-18G>T) c.7963-18G>T (n.7963-18G>T) n.8277-18G>T c.7975-18G>T (n.7975-18G>T) n.8310-18G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237655804T>A | CA2748277651 | RYR2 | c.7966-17T>A (n.7966-17T>A) c.155-17T>A c.7918-17T>A (n.7918-17T>A) c.7996-17T>A (n.7996-17T>A) c.7993-17T>A (n.7993-17T>A) c.7963-17T>A (n.7963-17T>A) n.8277-17T>A c.7975-17T>A (n.7975-17T>A) n.8310-17T>A | |
| 1 | g.237655804T>C | CA2574457862 | RYR2 | c.7966-17T>C (n.7966-17T>C) c.155-17T>C c.7918-17T>C (n.7918-17T>C) c.7996-17T>C (n.7996-17T>C) c.7993-17T>C (n.7993-17T>C) c.7963-17T>C (n.7963-17T>C) n.8277-17T>C c.7975-17T>C (n.7975-17T>C) n.8310-17T>C | |
| 1 | g.237655804_237655810delinsTCCTCCA | CA2487429706 | RYR2 | c.7966-17_7966-11delinsTCCTCCA (n.7966-17_7966-11delinsTCCTCCA) c.155-17_155-11delinsTCCTCCA c.7918-17_7918-11delinsTCCTCCA (n.7918-17_7918-11delinsTCCTCCA) c.7996-17_7996-11delinsTCCTCCA (n.7996-17_7996-11delinsTCCTCCA) c.7993-17_7993-11delinsTCCTCCA (n.7993-17_7993-11delinsTCCTCCA) c.7963-17_7963-11delinsTCCTCCA (n.7963-17_7963-11delinsTCCTCCA) n.8277-17_8277-11delinsTCCTCCA c.7975-17_7975-11delinsTCCTCCA (n.7975-17_7975-11delinsTCCTCCA) n.8310-17_8310-11delinsTCCTCCA | |
| 1 | g.237655805C>A | CA2651206627 | RYR2 | c.7966-16C>A (n.7966-16C>A) c.155-16C>A c.7918-16C>A (n.7918-16C>A) c.7996-16C>A (n.7996-16C>A) c.7993-16C>A (n.7993-16C>A) c.7963-16C>A (n.7963-16C>A) n.8277-16C>A c.7975-16C>A (n.7975-16C>A) n.8310-16C>A | gnomAD v4 |
| 1 | g.237655805C= | CA2487429707 | RYR2 | c.7966-16C= (n.7966-16C=) c.155-16C= c.7918-16C= (n.7918-16C=) c.7996-16C= (n.7996-16C=) c.7993-16C= (n.7993-16C=) c.7963-16C= (n.7963-16C=) n.8277-16C= c.7975-16C= (n.7975-16C=) n.8310-16C= | |
| 1 | g.237655805C>T | CA529912926 | RYR2 | c.7966-16C>T (n.7966-16C>T) c.155-16C>T c.7918-16C>T (n.7918-16C>T) c.7996-16C>T (n.7996-16C>T) c.7993-16C>T (n.7993-16C>T) c.7963-16C>T (n.7963-16C>T) n.8277-16C>T c.7975-16C>T (n.7975-16C>T) n.8310-16C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237655805_237655806del | CA2651206626 | RYR2 | c.7966-16_7966-15del (n.7966-16_7966-15del) c.155-16_155-15del c.7918-16_7918-15del (n.7918-16_7918-15del) c.7996-16_7996-15del (n.7996-16_7996-15del) c.7993-16_7993-15del (n.7993-16_7993-15del) c.7963-16_7963-15del (n.7963-16_7963-15del) n.8277-16_8277-15del c.7975-16_7975-15del (n.7975-16_7975-15del) n.8310-16_8310-15del | gnomAD v4 |
| 1 | g.237655806del | CA2651206625 | RYR2 | c.7966-15del (n.7966-15del) c.155-15del c.7918-15del (n.7918-15del) c.7996-15del (n.7996-15del) c.7993-15del (n.7993-15del) c.7963-15del (n.7963-15del) n.8277-15del c.7975-15del (n.7975-15del) n.8310-15del | gnomAD v4 |
| 1 | g.237655805_237655810del | CA529912925 | RYR2 | c.7966-16_7966-11del (n.7966-16_7966-11del) c.155-16_155-11del c.7918-16_7918-11del (n.7918-16_7918-11del) c.7996-16_7996-11del (n.7996-16_7996-11del) c.7993-16_7993-11del (n.7993-16_7993-11del) c.7963-16_7963-11del (n.7963-16_7963-11del) n.8277-16_8277-11del c.7975-16_7975-11del (n.7975-16_7975-11del) n.8310-16_8310-11del | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237655806C>A | CA2651206628 | RYR2 | c.7966-15C>A (n.7966-15C>A) c.155-15C>A c.7918-15C>A (n.7918-15C>A) c.7996-15C>A (n.7996-15C>A) c.7993-15C>A (n.7993-15C>A) c.7963-15C>A (n.7963-15C>A) n.8277-15C>A c.7975-15C>A (n.7975-15C>A) n.8310-15C>A | gnomAD v4 |
| 1 | g.237655806C= | CA2487429708 | RYR2 | c.7966-15C= (n.7966-15C=) c.155-15C= c.7918-15C= (n.7918-15C=) c.7996-15C= (n.7996-15C=) c.7993-15C= (n.7993-15C=) c.7963-15C= (n.7963-15C=) n.8277-15C= c.7975-15C= (n.7975-15C=) n.8310-15C= | |
| 1 | g.237655806C>T | CA087536 | RYR2 | c.7966-15C>T (n.7966-15C>T) c.155-15C>T c.7918-15C>T (n.7918-15C>T) c.7996-15C>T (n.7996-15C>T) c.7993-15C>T (n.7993-15C>T) c.7963-15C>T (n.7963-15C>T) n.8277-15C>T c.7975-15C>T (n.7975-15C>T) n.8310-15C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237655807T>C | CA2651206630 | RYR2 | c.7966-14T>C (n.7966-14T>C) c.155-14T>C c.7918-14T>C (n.7918-14T>C) c.7996-14T>C (n.7996-14T>C) c.7993-14T>C (n.7993-14T>C) c.7963-14T>C (n.7963-14T>C) n.8277-14T>C c.7975-14T>C (n.7975-14T>C) n.8310-14T>C | gnomAD v4 |
| 1 | g.237655808C>A | CA2651206632 | RYR2 | c.7966-13C>A (n.7966-13C>A) c.155-13C>A c.7918-13C>A (n.7918-13C>A) c.7996-13C>A (n.7996-13C>A) c.7993-13C>A (n.7993-13C>A) c.7963-13C>A (n.7963-13C>A) n.8277-13C>A c.7975-13C>A (n.7975-13C>A) n.8310-13C>A | gnomAD v4 |
| 1 | g.237655808C= | CA2487429709 | RYR2 | c.7966-13C= (n.7966-13C=) c.155-13C= c.7918-13C= (n.7918-13C=) c.7996-13C= (n.7996-13C=) c.7993-13C= (n.7993-13C=) c.7963-13C= (n.7963-13C=) n.8277-13C= c.7975-13C= (n.7975-13C=) n.8310-13C= | |
| 1 | g.237655808C>T | CA529912928 | RYR2 | c.7966-13C>T (n.7966-13C>T) c.155-13C>T c.7918-13C>T (n.7918-13C>T) c.7996-13C>T (n.7996-13C>T) c.7993-13C>T (n.7993-13C>T) c.7963-13C>T (n.7963-13C>T) n.8277-13C>T c.7975-13C>T (n.7975-13C>T) n.8310-13C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237655808_237655810del | CA2651206631 | RYR2 | c.7966-13_7966-11del (n.7966-13_7966-11del) c.155-13_155-11del c.7918-13_7918-11del (n.7918-13_7918-11del) c.7996-13_7996-11del (n.7996-13_7996-11del) c.7993-13_7993-11del (n.7993-13_7993-11del) c.7963-13_7963-11del (n.7963-13_7963-11del) n.8277-13_8277-11del c.7975-13_7975-11del (n.7975-13_7975-11del) n.8310-13_8310-11del | gnomAD v4 |
| 1 | g.237655809C>A | CA2651206633 | RYR2 | c.7966-12C>A (n.7966-12C>A) c.155-12C>A c.7918-12C>A (n.7918-12C>A) c.7996-12C>A (n.7996-12C>A) c.7993-12C>A (n.7993-12C>A) c.7963-12C>A (n.7963-12C>A) n.8277-12C>A c.7975-12C>A (n.7975-12C>A) n.8310-12C>A | gnomAD v4 |
| 1 | g.237655809C= | CA2487429710 | RYR2 | c.7966-12C= (n.7966-12C=) c.155-12C= c.7918-12C= (n.7918-12C=) c.7996-12C= (n.7996-12C=) c.7993-12C= (n.7993-12C=) c.7963-12C= (n.7963-12C=) n.8277-12C= c.7975-12C= (n.7975-12C=) n.8310-12C= | |
| 1 | g.237655809C>T | CA529912895 | RYR2 | c.7966-12C>T (n.7966-12C>T) c.155-12C>T c.7918-12C>T (n.7918-12C>T) c.7996-12C>T (n.7996-12C>T) c.7993-12C>T (n.7993-12C>T) c.7963-12C>T (n.7963-12C>T) n.8277-12C>T c.7975-12C>T (n.7975-12C>T) n.8310-12C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237655810A= | CA2487429711 | RYR2 | c.7966-11A= (n.7966-11A=) c.155-11A= c.7918-11A= (n.7918-11A=) c.7996-11A= (n.7996-11A=) c.7993-11A= (n.7993-11A=) c.7963-11A= (n.7963-11A=) n.8277-11A= c.7975-11A= (n.7975-11A=) n.8310-11A= | |
| 1 | g.237655810A>C | CA2651206635 | RYR2 | c.7966-11A>C (n.7966-11A>C) c.155-11A>C c.7918-11A>C (n.7918-11A>C) c.7996-11A>C (n.7996-11A>C) c.7993-11A>C (n.7993-11A>C) c.7963-11A>C (n.7963-11A>C) n.8277-11A>C c.7975-11A>C (n.7975-11A>C) n.8310-11A>C | gnomAD v4 |
| 1 | g.237655810A>G | CA733319252 | RYR2 | c.7966-11A>G (n.7966-11A>G) c.155-11A>G c.7918-11A>G (n.7918-11A>G) c.7996-11A>G (n.7996-11A>G) c.7993-11A>G (n.7993-11A>G) c.7963-11A>G (n.7963-11A>G) n.8277-11A>G c.7975-11A>G (n.7975-11A>G) n.8310-11A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.237655810A>T | CA529912896 | RYR2 | c.7966-11A>T (n.7966-11A>T) c.155-11A>T c.7918-11A>T (n.7918-11A>T) c.7996-11A>T (n.7996-11A>T) c.7993-11A>T (n.7993-11A>T) c.7963-11A>T (n.7963-11A>T) n.8277-11A>T c.7975-11A>T (n.7975-11A>T) n.8310-11A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237655811T>A | CA2651206646 | RYR2 | c.7966-10T>A (n.7966-10T>A) c.155-10T>A c.7918-10T>A (n.7918-10T>A) c.7996-10T>A (n.7996-10T>A) c.7993-10T>A (n.7993-10T>A) c.7963-10T>A (n.7963-10T>A) n.8277-10T>A c.7975-10T>A (n.7975-10T>A) n.8310-10T>A | gnomAD v4 |
| 1 | g.237655811T>C | CA2651206647 | RYR2 | c.7966-10T>C (n.7966-10T>C) c.155-10T>C c.7918-10T>C (n.7918-10T>C) c.7996-10T>C (n.7996-10T>C) c.7993-10T>C (n.7993-10T>C) c.7963-10T>C (n.7963-10T>C) n.8277-10T>C c.7975-10T>C (n.7975-10T>C) n.8310-10T>C | dbSNP gnomAD v4 |
| 1 | g.237655815dup | CA2651206642 | RYR2 | c.7966-6dup (n.7966-6dup) c.155-6dup c.7918-6dup (n.7918-6dup) c.7996-6dup (n.7996-6dup) c.7993-6dup (n.7993-6dup) c.7963-6dup (n.7963-6dup) n.8277-6dup c.7975-6dup (n.7975-6dup) n.8310-6dup | gnomAD v4 |
| 1 | g.237655815del | CA2651206644 | RYR2 | c.7966-6del (n.7966-6del) c.155-6del c.7918-6del (n.7918-6del) c.7996-6del (n.7996-6del) c.7993-6del (n.7993-6del) c.7963-6del (n.7963-6del) n.8277-6del c.7975-6del (n.7975-6del) n.8310-6del | gnomAD v4 |
| 1 | g.237655812T>C | CA2651206648 | RYR2 | c.7966-9T>C (n.7966-9T>C) c.155-9T>C c.7918-9T>C (n.7918-9T>C) c.7996-9T>C (n.7996-9T>C) c.7993-9T>C (n.7993-9T>C) c.7963-9T>C (n.7963-9T>C) n.8277-9T>C c.7975-9T>C (n.7975-9T>C) n.8310-9T>C | gnomAD v4 |
| 1 | g.237655812T>G | CA529912897 | RYR2 | c.7966-9T>G (n.7966-9T>G) c.155-9T>G c.7918-9T>G (n.7918-9T>G) c.7996-9T>G (n.7996-9T>G) c.7993-9T>G (n.7993-9T>G) c.7963-9T>G (n.7963-9T>G) n.8277-9T>G c.7975-9T>G (n.7975-9T>G) n.8310-9T>G | dbSNP gnomAD v2 |
| 1 | g.237655812T= | CA2487429712 | RYR2 | c.7966-9T= (n.7966-9T=) c.155-9T= c.7918-9T= (n.7918-9T=) c.7996-9T= (n.7996-9T=) c.7993-9T= (n.7993-9T=) c.7963-9T= (n.7963-9T=) n.8277-9T= c.7975-9T= (n.7975-9T=) n.8310-9T= | |
| 1 | g.237655813_237655814insC | CA2574457863 | RYR2 | c.7966-8_7966-7insC (n.7966-8_7966-7insC) c.155-8_155-7insC c.7918-8_7918-7insC (n.7918-8_7918-7insC) c.7996-8_7996-7insC (n.7996-8_7996-7insC) c.7993-8_7993-7insC (n.7993-8_7993-7insC) c.7963-8_7963-7insC (n.7963-8_7963-7insC) n.8277-8_8277-7insC c.7975-8_7975-7insC (n.7975-8_7975-7insC) n.8310-8_8310-7insC | |
| 1 | g.237655814T>C | CA2651206649 | RYR2 | c.7966-7T>C (n.7966-7T>C) c.155-7T>C c.7918-7T>C (n.7918-7T>C) c.7996-7T>C (n.7996-7T>C) c.7993-7T>C (n.7993-7T>C) c.7963-7T>C (n.7963-7T>C) n.8277-7T>C c.7975-7T>C (n.7975-7T>C) n.8310-7T>C | gnomAD v4 |
| 1 | g.237655815T>C | CA2573132853 | RYR2 | c.7966-6T>C (n.7966-6T>C) c.155-6T>C c.7918-6T>C (n.7918-6T>C) c.7996-6T>C (n.7996-6T>C) c.7993-6T>C (n.7993-6T>C) c.7963-6T>C (n.7963-6T>C) n.8277-6T>C c.7975-6T>C (n.7975-6T>C) n.8310-6T>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.237655816C>A | CA2651206653 | RYR2 | c.7966-5C>A (n.7966-5C>A) c.155-5C>A c.7918-5C>A (n.7918-5C>A) c.7996-5C>A (n.7996-5C>A) c.7993-5C>A (n.7993-5C>A) c.7963-5C>A (n.7963-5C>A) n.8277-5C>A c.7975-5C>A (n.7975-5C>A) n.8310-5C>A | gnomAD v4 |
| 1 | g.237655816C= | CA2487429713 | RYR2 | c.7966-5C= (n.7966-5C=) c.155-5C= c.7918-5C= (n.7918-5C=) c.7996-5C= (n.7996-5C=) c.7993-5C= (n.7993-5C=) c.7963-5C= (n.7963-5C=) n.8277-5C= c.7975-5C= (n.7975-5C=) n.8310-5C= | |
| 1 | g.237655816C>T | CA529912898 | RYR2 | c.7966-5C>T (n.7966-5C>T) c.155-5C>T c.7918-5C>T (n.7918-5C>T) c.7996-5C>T (n.7996-5C>T) c.7993-5C>T (n.7993-5C>T) c.7963-5C>T (n.7963-5C>T) n.8277-5C>T c.7975-5C>T (n.7975-5C>T) n.8310-5C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237655818del | CA2651206652 | RYR2 | c.7966-3del (n.7966-3del) c.155-3del c.7918-3del (n.7918-3del) c.7996-3del (n.7996-3del) c.7993-3del (n.7993-3del) c.7963-3del (n.7963-3del) n.8277-3del c.7975-3del (n.7975-3del) n.8310-3del | gnomAD v4 |
| 1 | g.237655817C>A | CA1013753374 | RYR2 | c.7966-4C>A (n.7966-4C>A) c.155-4C>A c.7918-4C>A (n.7918-4C>A) c.7996-4C>A (n.7996-4C>A) c.7993-4C>A (n.7993-4C>A) c.7963-4C>A (n.7963-4C>A) n.8277-4C>A c.7975-4C>A (n.7975-4C>A) n.8310-4C>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.237655817C= | CA2487429714 | RYR2 | c.7966-4C= (n.7966-4C=) c.155-4C= c.7918-4C= (n.7918-4C=) c.7996-4C= (n.7996-4C=) c.7993-4C= (n.7993-4C=) c.7963-4C= (n.7963-4C=) n.8277-4C= c.7975-4C= (n.7975-4C=) n.8310-4C= | |
| 1 | g.237655817C>T | CA2651206654 | RYR2 | c.7966-4C>T (n.7966-4C>T) c.155-4C>T c.7918-4C>T (n.7918-4C>T) c.7996-4C>T (n.7996-4C>T) c.7993-4C>T (n.7993-4C>T) c.7963-4C>T (n.7963-4C>T) n.8277-4C>T c.7975-4C>T (n.7975-4C>T) n.8310-4C>T | gnomAD v4 |
| 1 | g.237655818C>A | CA2651206655 | RYR2 | c.7966-3C>A (n.7966-3C>A) c.155-3C>A c.7918-3C>A (n.7918-3C>A) c.7996-3C>A (n.7996-3C>A) c.7993-3C>A (n.7993-3C>A) c.7963-3C>A (n.7963-3C>A) n.8277-3C>A c.7975-3C>A (n.7975-3C>A) n.8310-3C>A | gnomAD v4 |
| 1 | g.237655818C= | CA2487429715 | RYR2 | c.7966-3C= (n.7966-3C=) c.155-3C= c.7918-3C= (n.7918-3C=) c.7996-3C= (n.7996-3C=) c.7993-3C= (n.7993-3C=) c.7963-3C= (n.7963-3C=) n.8277-3C= c.7975-3C= (n.7975-3C=) n.8310-3C= | |
| 1 | g.237655818C>T | CA529912899 | RYR2 | c.7966-3C>T (n.7966-3C>T) c.155-3C>T c.7918-3C>T (n.7918-3C>T) c.7996-3C>T (n.7996-3C>T) c.7993-3C>T (n.7993-3C>T) c.7963-3C>T (n.7963-3C>T) n.8277-3C>T c.7975-3C>T (n.7975-3C>T) n.8310-3C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237655819A>C | CA345400653 | RYR2 | c.7966-2A>C (n.7966-2A>C) c.155-2A>C c.7918-2A>C (n.7918-2A>C) c.7996-2A>C (n.7996-2A>C) c.7993-2A>C (n.7993-2A>C) c.7963-2A>C (n.7963-2A>C) n.8277-2A>C c.7975-2A>C (n.7975-2A>C) n.8310-2A>C | |
| 1 | g.237655819A>G | CA345400654 | RYR2 | c.7966-2A>G (n.7966-2A>G) c.155-2A>G c.7918-2A>G (n.7918-2A>G) c.7996-2A>G (n.7996-2A>G) c.7993-2A>G (n.7993-2A>G) c.7963-2A>G (n.7963-2A>G) n.8277-2A>G c.7975-2A>G (n.7975-2A>G) n.8310-2A>G | ClinVar gnomAD v4 |
| 1 | g.237655819A>T | CA345400655 | RYR2 | c.7966-2A>T (n.7966-2A>T) c.155-2A>T c.7918-2A>T (n.7918-2A>T) c.7996-2A>T (n.7996-2A>T) c.7993-2A>T (n.7993-2A>T) c.7963-2A>T (n.7963-2A>T) n.8277-2A>T c.7975-2A>T (n.7975-2A>T) n.8310-2A>T | |
| 1 | g.237655820G>A | CA345400657 | RYR2 | c.7966-1G>A (n.7966-1G>A) c.155-1G>A c.7918-1G>A (n.7918-1G>A) c.7996-1G>A (n.7996-1G>A) c.7993-1G>A (n.7993-1G>A) c.7963-1G>A (n.7963-1G>A) n.8277-1G>A c.7975-1G>A (n.7975-1G>A) n.8310-1G>A | |
| 1 | g.237655820G>C | CA345400659 | RYR2 | c.7966-1G>C (n.7966-1G>C) c.155-1G>C c.7918-1G>C (n.7918-1G>C) c.7996-1G>C (n.7996-1G>C) c.7993-1G>C (n.7993-1G>C) c.7963-1G>C (n.7963-1G>C) n.8277-1G>C c.7975-1G>C (n.7975-1G>C) n.8310-1G>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.237655820G= | CA2487429716 | RYR2 | c.7966-1G= (n.7966-1G=) c.155-1G= c.7918-1G= (n.7918-1G=) c.7996-1G= (n.7996-1G=) c.7993-1G= (n.7993-1G=) c.7963-1G= (n.7963-1G=) n.8277-1G= c.7975-1G= (n.7975-1G=) n.8310-1G= | |
| 1 | g.237655820G>T | CA345400660 | RYR2 | c.7966-1G>T (n.7966-1G>T) c.155-1G>T c.7918-1G>T (n.7918-1G>T) c.7996-1G>T (n.7996-1G>T) c.7993-1G>T (n.7993-1G>T) c.7963-1G>T (n.7963-1G>T) n.8277-1G>T c.7975-1G>T (n.7975-1G>T) n.8310-1G>T | |
| 1 | g.237655821A>C | CA345400662 | RYR2 | c.7966A>C (p.Lys2656Gln) c.155A>C c.7918A>C (p.Lys2640Gln) c.7996A>C (p.Lys2666Gln) c.7993A>C (p.Lys2665Gln) c.7963A>C (p.Lys2655Gln) n.8277A>C c.7975A>C (p.Lys2659Gln) n.8310A>C | |
| 1 | g.237655821A>G | CA345400665 | RYR2 | c.7966A>G (p.Lys2656Glu) c.155A>G c.7918A>G (p.Lys2640Glu) c.7996A>G (p.Lys2666Glu) c.7993A>G (p.Lys2665Glu) c.7963A>G (p.Lys2655Glu) n.8277A>G c.7975A>G (p.Lys2659Glu) n.8310A>G | |
| 1 | g.237655821A>T | CA345400663 | RYR2 | c.7966A>T (p.Lys2656Ter) c.155A>T c.7918A>T (p.Lys2640Ter) c.7996A>T (p.Lys2666Ter) c.7993A>T (p.Lys2665Ter) c.7963A>T (p.Lys2655Ter) n.8277A>T c.7975A>T (p.Lys2659Ter) n.8310A>T | |
| 1 | g.237655822A>C | CA345400667 | RYR2 | c.7967A>C (p.Lys2656Thr) c.156A>C c.7919A>C (p.Lys2640Thr) c.7997A>C (p.Lys2666Thr) c.7994A>C (p.Lys2665Thr) c.7964A>C (p.Lys2655Thr) n.8278A>C c.7976A>C (p.Lys2659Thr) n.8311A>C | |
| 1 | g.237655822A>G | CA345400669 | RYR2 | c.7967A>G (p.Lys2656Arg) c.156A>G c.7919A>G (p.Lys2640Arg) c.7997A>G (p.Lys2666Arg) c.7994A>G (p.Lys2665Arg) c.7964A>G (p.Lys2655Arg) n.8278A>G c.7976A>G (p.Lys2659Arg) n.8311A>G | |
| 1 | g.237655822A>T | CA345400670 | RYR2 | c.7967A>T (p.Lys2656Ile) c.156A>T c.7919A>T (p.Lys2640Ile) c.7997A>T (p.Lys2666Ile) c.7994A>T (p.Lys2665Ile) c.7964A>T (p.Lys2655Ile) n.8278A>T c.7976A>T (p.Lys2659Ile) n.8311A>T | gnomAD v4 |
| 1 | g.237655823A>C | CA345400672 | RYR2 | c.7968A>C (p.Lys2656Asn) c.157A>C c.7920A>C (p.Lys2640Asn) c.7998A>C (p.Lys2666Asn) c.7995A>C (p.Lys2665Asn) c.7965A>C (p.Lys2655Asn) n.8279A>C c.7977A>C (p.Lys2659Asn) n.8312A>C | |
| 1 | g.237655823A>G | CA423820523 | RYR2 | c.7968A>G (p.Lys2656=) c.157A>G c.7920A>G (p.Lys2640=) c.7998A>G (p.Lys2666=) c.7995A>G (p.Lys2665=) c.7965A>G (p.Lys2655=) n.8279A>G c.7977A>G (p.Lys2659=) n.8312A>G | |
| 1 | g.237655823A>T | CA345400674 | RYR2 | c.7968A>T (p.Lys2656Asn) c.157A>T c.7920A>T (p.Lys2640Asn) c.7998A>T (p.Lys2666Asn) c.7995A>T (p.Lys2665Asn) c.7965A>T (p.Lys2655Asn) n.8279A>T c.7977A>T (p.Lys2659Asn) n.8312A>T | COSMIC COSMIC |
| 1 | g.237655824T>A | CA345400675 | RYR2 | c.7969T>A (p.Tyr2657Asn) c.158T>A c.7921T>A (p.Tyr2641Asn) c.7999T>A (p.Tyr2667Asn) c.7996T>A (p.Tyr2666Asn) c.7966T>A (p.Tyr2656Asn) n.8280T>A c.7978T>A (p.Tyr2660Asn) n.8313T>A | |
| 1 | g.237655824T>C | CA345400677 | RYR2 | c.7969T>C (p.Tyr2657His) c.158T>C c.7921T>C (p.Tyr2641His) c.7999T>C (p.Tyr2667His) c.7996T>C (p.Tyr2666His) c.7966T>C (p.Tyr2656His) n.8280T>C c.7978T>C (p.Tyr2660His) n.8313T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237655824T>G | CA39802408 | RYR2 | c.7969T>G (p.Tyr2657Asp) c.158T>G c.7921T>G (p.Tyr2641Asp) c.7999T>G (p.Tyr2667Asp) c.7996T>G (p.Tyr2666Asp) c.7966T>G (p.Tyr2656Asp) n.8280T>G c.7978T>G (p.Tyr2660Asp) n.8313T>G | dbSNP gnomAD v4 |
| 1 | g.237655824T= | CA1144133120 | RYR2 | c.7969T= (p.Tyr2657=) c.158T= c.7921T= (p.Tyr2641=) c.7999T= (p.Tyr2667=) c.7996T= (p.Tyr2666=) c.7966T= (p.Tyr2656=) n.8280T= c.7978T= (p.Tyr2660=) n.8313T= | |
| 1 | g.237655825A>C | CA345400679 | RYR2 | c.7970A>C (p.Tyr2657Ser) c.159A>C c.7922A>C (p.Tyr2641Ser) c.8000A>C (p.Tyr2667Ser) c.7997A>C (p.Tyr2666Ser) c.7967A>C (p.Tyr2656Ser) n.8281A>C c.7979A>C (p.Tyr2660Ser) n.8314A>C | |
| 1 | g.237655825A>G | CA345400681 | RYR2 | c.7970A>G (p.Tyr2657Cys) c.159A>G c.7922A>G (p.Tyr2641Cys) c.8000A>G (p.Tyr2667Cys) c.7997A>G (p.Tyr2666Cys) c.7967A>G (p.Tyr2656Cys) n.8281A>G c.7979A>G (p.Tyr2660Cys) n.8314A>G | |
| 1 | g.237655825A>T | CA345400683 | RYR2 | c.7970A>T (p.Tyr2657Phe) c.159A>T c.7922A>T (p.Tyr2641Phe) c.8000A>T (p.Tyr2667Phe) c.7997A>T (p.Tyr2666Phe) c.7967A>T (p.Tyr2656Phe) n.8281A>T c.7979A>T (p.Tyr2660Phe) n.8314A>T | gnomAD v4 |
| 1 | g.237655826T>A | CA345400685 | RYR2 | c.7971T>A (p.Tyr2657Ter) c.160T>A c.7923T>A (p.Tyr2641Ter) c.8001T>A (p.Tyr2667Ter) c.7998T>A (p.Tyr2666Ter) c.7968T>A (p.Tyr2656Ter) n.8282T>A c.7980T>A (p.Tyr2660Ter) n.8315T>A | gnomAD v4 |
| 1 | g.237655826T>C | CA076096 | RYR2 | c.7971T>C (p.Tyr2657=) c.160T>C c.7923T>C (p.Tyr2641=) c.8001T>C (p.Tyr2667=) c.7998T>C (p.Tyr2666=) c.7968T>C (p.Tyr2656=) n.8282T>C c.7980T>C (p.Tyr2660=) n.8315T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237655826T>G | CA345400687 | RYR2 | c.7971T>G (p.Tyr2657Ter) c.160T>G c.7923T>G (p.Tyr2641Ter) c.8001T>G (p.Tyr2667Ter) c.7998T>G (p.Tyr2666Ter) c.7968T>G (p.Tyr2656Ter) n.8282T>G c.7980T>G (p.Tyr2660Ter) n.8315T>G | |
| 1 | g.237655826T= | CA1148434494 | RYR2 | c.7971T= (p.Tyr2657=) c.160T= c.7923T= (p.Tyr2641=) c.8001T= (p.Tyr2667=) c.7998T= (p.Tyr2666=) c.7968T= (p.Tyr2656=) n.8282T= c.7980T= (p.Tyr2660=) n.8315T= | |
| 1 | g.237655827G>A | CA345400689 | RYR2 | c.7972G>A (p.Glu2658Lys) c.161G>A c.7924G>A (p.Glu2642Lys) c.8002G>A (p.Glu2668Lys) c.7999G>A (p.Glu2667Lys) c.7969G>A (p.Glu2657Lys) n.8283G>A c.7981G>A (p.Glu2661Lys) n.8316G>A | |
| 1 | g.237655827G>C | CA345400693 | RYR2 | c.7972G>C (p.Glu2658Gln) c.161G>C c.7924G>C (p.Glu2642Gln) c.8002G>C (p.Glu2668Gln) c.7999G>C (p.Glu2667Gln) c.7969G>C (p.Glu2657Gln) n.8283G>C c.7981G>C (p.Glu2661Gln) n.8316G>C | |
| 1 | g.237655827G>T | CA345400691 | RYR2 | c.7972G>T (p.Glu2658Ter) c.161G>T c.7924G>T (p.Glu2642Ter) c.8002G>T (p.Glu2668Ter) c.7999G>T (p.Glu2667Ter) c.7969G>T (p.Glu2657Ter) n.8283G>T c.7981G>T (p.Glu2661Ter) n.8316G>T | gnomAD v4 |
| 1 | g.237655828A>C | CA345400694 | RYR2 | c.7973A>C (p.Glu2658Ala) c.162A>C c.7925A>C (p.Glu2642Ala) c.8003A>C (p.Glu2668Ala) c.8000A>C (p.Glu2667Ala) c.7970A>C (p.Glu2657Ala) n.8284A>C c.7982A>C (p.Glu2661Ala) n.8317A>C | |
| 1 | g.237655828A>G | CA076129 | RYR2 | c.7973A>G (p.Glu2658Gly) c.162A>G c.7925A>G (p.Glu2642Gly) c.8003A>G (p.Glu2668Gly) c.8000A>G (p.Glu2667Gly) c.7970A>G (p.Glu2657Gly) n.8284A>G c.7982A>G (p.Glu2661Gly) n.8317A>G | |
| 1 | g.237655828A>T | CA345400696 | RYR2 | c.7973A>T (p.Glu2658Val) c.162A>T c.7925A>T (p.Glu2642Val) c.8003A>T (p.Glu2668Val) c.8000A>T (p.Glu2667Val) c.7970A>T (p.Glu2657Val) n.8284A>T c.7982A>T (p.Glu2661Val) n.8317A>T | |
| 1 | g.237655829A>C | CA345400698 | RYR2 | c.7974A>C (p.Glu2658Asp) c.163A>C c.7926A>C (p.Glu2642Asp) c.8004A>C (p.Glu2668Asp) c.8001A>C (p.Glu2667Asp) c.7971A>C (p.Glu2657Asp) n.8285A>C c.7983A>C (p.Glu2661Asp) n.8318A>C | |
| 1 | g.237655829A>G | CA423820524 | RYR2 | c.7974A>G (p.Glu2658=) c.163A>G c.7926A>G (p.Glu2642=) c.8004A>G (p.Glu2668=) c.8001A>G (p.Glu2667=) c.7971A>G (p.Glu2657=) n.8285A>G c.7983A>G (p.Glu2661=) n.8318A>G | gnomAD v4 |
| 1 | g.237655829A>T | CA345400699 | RYR2 | c.7974A>T (p.Glu2658Asp) c.163A>T c.7926A>T (p.Glu2642Asp) c.8004A>T (p.Glu2668Asp) c.8001A>T (p.Glu2667Asp) c.7971A>T (p.Glu2657Asp) n.8285A>T c.7983A>T (p.Glu2661Asp) n.8318A>T | |
| 1 | g.237655830C>A | CA345400701 | RYR2 | c.7975C>A (p.Gln2659Lys) c.164C>A c.7927C>A (p.Gln2643Lys) c.8005C>A (p.Gln2669Lys) c.8002C>A (p.Gln2668Lys) c.7972C>A (p.Gln2658Lys) n.8286C>A c.7984C>A (p.Gln2662Lys) n.8319C>A | gnomAD v4 |
| 1 | g.237655830C>G | CA345400702 | RYR2 | c.7975C>G (p.Gln2659Glu) c.164C>G c.7927C>G (p.Gln2643Glu) c.8005C>G (p.Gln2669Glu) c.8002C>G (p.Gln2668Glu) c.7972C>G (p.Gln2658Glu) n.8286C>G c.7984C>G (p.Gln2662Glu) n.8319C>G | |
| 1 | g.237655830C>T | CA345400704 | RYR2 | c.7975C>T (p.Gln2659Ter) c.164C>T c.7927C>T (p.Gln2643Ter) c.8005C>T (p.Gln2669Ter) c.8002C>T (p.Gln2668Ter) c.7972C>T (p.Gln2658Ter) n.8286C>T c.7984C>T (p.Gln2662Ter) n.8319C>T | |
| 1 | g.237655831A>C | CA345400706 | RYR2 | c.7976A>C (p.Gln2659Pro) c.165A>C c.7928A>C (p.Gln2643Pro) c.8006A>C (p.Gln2669Pro) c.8003A>C (p.Gln2668Pro) c.7973A>C (p.Gln2658Pro) n.8287A>C c.7985A>C (p.Gln2662Pro) n.8320A>C | gnomAD v4 |
| 1 | g.237655831A>G | CA345400708 | RYR2 | c.7976A>G (p.Gln2659Arg) c.165A>G c.7928A>G (p.Gln2643Arg) c.8006A>G (p.Gln2669Arg) c.8003A>G (p.Gln2668Arg) c.7973A>G (p.Gln2658Arg) n.8287A>G c.7985A>G (p.Gln2662Arg) n.8320A>G | gnomAD v4 |
| 1 | g.237655831A>T | CA345400709 | RYR2 | c.7976A>T (p.Gln2659Leu) c.165A>T c.7928A>T (p.Gln2643Leu) c.8006A>T (p.Gln2669Leu) c.8003A>T (p.Gln2668Leu) c.7973A>T (p.Gln2658Leu) n.8287A>T c.7985A>T (p.Gln2662Leu) n.8320A>T | |
| 1 | g.237655832A= | CA2487429717 | RYR2 | c.7977A= (p.Gln2659=) c.166A= c.7929A= (p.Gln2643=) c.8007A= (p.Gln2669=) c.8004A= (p.Gln2668=) c.7974A= (p.Gln2658=) n.8288A= c.7986A= (p.Gln2662=) n.8321A= | |
| 1 | g.237655832A>C | CA345400712 | RYR2 | c.7977A>C (p.Gln2659His) c.166A>C c.7929A>C (p.Gln2643His) c.8007A>C (p.Gln2669His) c.8004A>C (p.Gln2668His) c.7974A>C (p.Gln2658His) n.8288A>C c.7986A>C (p.Gln2662His) n.8321A>C | |
| 1 | g.237655832A>G | CA423820525 | RYR2 | c.7977A>G (p.Gln2659=) c.166A>G c.7929A>G (p.Gln2643=) c.8007A>G (p.Gln2669=) c.8004A>G (p.Gln2668=) c.7974A>G (p.Gln2658=) n.8288A>G c.7986A>G (p.Gln2662=) n.8321A>G | dbSNP |
| 1 | g.237655832A>T | CA345400710 | RYR2 | c.7977A>T (p.Gln2659His) c.166A>T c.7929A>T (p.Gln2643His) c.8007A>T (p.Gln2669His) c.8004A>T (p.Gln2668His) c.7974A>T (p.Gln2658His) n.8288A>T c.7986A>T (p.Gln2662His) n.8321A>T | |
| 1 | g.237655833_237655834del | CA076119 | RYR2 | c.7978_7979del (p.Glu2660ThrfsTer?) c.167_168del c.7930_7931del (p.Glu2644ThrfsTer?) c.8008_8009del (p.Glu2670ThrfsTer?) c.8005_8006del (p.Glu2669ThrfsTer?) c.7975_7976del (p.Glu2659ThrfsTer?) n.8289_8290del c.7987_7988del (p.Glu2663ThrfsTer?) n.8322_8323del | |
| 1 | g.237655833G>A | CA345400714 | RYR2 | c.7978G>A (p.Glu2660Lys) c.167G>A c.7930G>A (p.Glu2644Lys) c.8008G>A (p.Glu2670Lys) c.8005G>A (p.Glu2669Lys) c.7975G>A (p.Glu2659Lys) n.8289G>A c.7987G>A (p.Glu2663Lys) n.8322G>A | |
| 1 | g.237655833G>C | CA345400716 | RYR2 | c.7978G>C (p.Glu2660Gln) c.167G>C c.7930G>C (p.Glu2644Gln) c.8008G>C (p.Glu2670Gln) c.8005G>C (p.Glu2669Gln) c.7975G>C (p.Glu2659Gln) n.8289G>C c.7987G>C (p.Glu2663Gln) n.8322G>C | gnomAD v4 |
| 1 | g.237655833G>T | CA345400717 | RYR2 | c.7978G>T (p.Glu2660Ter) c.167G>T c.7930G>T (p.Glu2644Ter) c.8008G>T (p.Glu2670Ter) c.8005G>T (p.Glu2669Ter) c.7975G>T (p.Glu2659Ter) n.8289G>T c.7987G>T (p.Glu2663Ter) n.8322G>T | |
| 1 | g.237655834A= | CA2487429718 | RYR2 | c.7979A= (p.Glu2660=) c.168A= c.7931A= (p.Glu2644=) c.8009A= (p.Glu2670=) c.8006A= (p.Glu2669=) c.7976A= (p.Glu2659=) n.8290A= c.7988A= (p.Glu2663=) n.8323A= | |
| 1 | g.237655834A>C | CA345400719 | RYR2 | c.7979A>C (p.Glu2660Ala) c.168A>C c.7931A>C (p.Glu2644Ala) c.8009A>C (p.Glu2670Ala) c.8006A>C (p.Glu2669Ala) c.7976A>C (p.Glu2659Ala) n.8290A>C c.7988A>C (p.Glu2663Ala) n.8323A>C | |
| 1 | g.237655834A>G | CA345400721 | RYR2 | c.7979A>G (p.Glu2660Gly) c.168A>G c.7931A>G (p.Glu2644Gly) c.8009A>G (p.Glu2670Gly) c.8006A>G (p.Glu2669Gly) c.7976A>G (p.Glu2659Gly) n.8290A>G c.7988A>G (p.Glu2663Gly) n.8323A>G | gnomAD v4 |
| 1 | g.237655834A>T | CA345400723 | RYR2 | c.7979A>T (p.Glu2660Val) c.168A>T c.7931A>T (p.Glu2644Val) c.8009A>T (p.Glu2670Val) c.8006A>T (p.Glu2669Val) c.7976A>T (p.Glu2659Val) n.8290A>T c.7988A>T (p.Glu2663Val) n.8323A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.237655835A= | CA2487429719 | RYR2 | c.7980A= (p.Glu2660=) c.169A= c.7932A= (p.Glu2644=) c.8010A= (p.Glu2670=) c.8007A= (p.Glu2669=) c.7977A= (p.Glu2659=) n.8291A= c.7989A= (p.Glu2663=) n.8324A= | |
| 1 | g.237655835A>C | CA345400725 | RYR2 | c.7980A>C (p.Glu2660Asp) c.169A>C c.7932A>C (p.Glu2644Asp) c.8010A>C (p.Glu2670Asp) c.8007A>C (p.Glu2669Asp) c.7977A>C (p.Glu2659Asp) n.8291A>C c.7989A>C (p.Glu2663Asp) n.8324A>C | gnomAD v4 |
| 1 | g.237655835A>G | CA087550 | RYR2 | c.7980A>G (p.Glu2660=) c.169A>G c.7932A>G (p.Glu2644=) c.8010A>G (p.Glu2670=) c.8007A>G (p.Glu2669=) c.7977A>G (p.Glu2659=) n.8291A>G c.7989A>G (p.Glu2663=) n.8324A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237655835A>T | CA345400727 | RYR2 | c.7980A>T (p.Glu2660Asp) c.169A>T c.7932A>T (p.Glu2644Asp) c.8010A>T (p.Glu2670Asp) c.8007A>T (p.Glu2669Asp) c.7977A>T (p.Glu2659Asp) n.8291A>T c.7989A>T (p.Glu2663Asp) n.8324A>T | |
| 1 | g.237655836C>A | CA345400728 | RYR2 | c.7981C>A (p.Leu2661Ile) c.170C>A c.7933C>A (p.Leu2645Ile) c.8011C>A (p.Leu2671Ile) c.8008C>A (p.Leu2670Ile) c.7978C>A (p.Leu2660Ile) n.8292C>A c.7990C>A (p.Leu2664Ile) n.8325C>A | gnomAD v4 |
| 1 | g.237655836C>G | CA345400730 | RYR2 | c.7981C>G (p.Leu2661Val) c.170C>G c.7933C>G (p.Leu2645Val) c.8011C>G (p.Leu2671Val) c.8008C>G (p.Leu2670Val) c.7978C>G (p.Leu2660Val) n.8292C>G c.7990C>G (p.Leu2664Val) n.8325C>G | gnomAD v4 |
| 1 | g.237655836C>T | CA345400731 | RYR2 | c.7981C>T (p.Leu2661Phe) c.170C>T c.7933C>T (p.Leu2645Phe) c.8011C>T (p.Leu2671Phe) c.8008C>T (p.Leu2670Phe) c.7978C>T (p.Leu2660Phe) n.8292C>T c.7990C>T (p.Leu2664Phe) n.8325C>T | gnomAD v4 COSMIC COSMIC |
| 1 | g.237655837T>A | CA345400735 | RYR2 | c.7982T>A (p.Leu2661His) c.171T>A c.7934T>A (p.Leu2645His) c.8012T>A (p.Leu2671His) c.8009T>A (p.Leu2670His) c.7979T>A (p.Leu2660His) n.8293T>A c.7991T>A (p.Leu2664His) n.8326T>A | COSMIC COSMIC |
| 1 | g.237655837T>C | CA345400736 | RYR2 | c.7982T>C (p.Leu2661Pro) c.171T>C c.7934T>C (p.Leu2645Pro) c.8012T>C (p.Leu2671Pro) c.8009T>C (p.Leu2670Pro) c.7979T>C (p.Leu2660Pro) n.8293T>C c.7991T>C (p.Leu2664Pro) n.8326T>C | gnomAD v4 |
| 1 | g.237655837T>G | CA345400733 | RYR2 | c.7982T>G (p.Leu2661Arg) c.171T>G c.7934T>G (p.Leu2645Arg) c.8012T>G (p.Leu2671Arg) c.8009T>G (p.Leu2670Arg) c.7979T>G (p.Leu2660Arg) n.8293T>G c.7991T>G (p.Leu2664Arg) n.8326T>G | |
| 1 | g.237655838T>A | CA423820528 | RYR2 | c.7983T>A (p.Leu2661=) c.172T>A c.7935T>A (p.Leu2645=) c.8013T>A (p.Leu2671=) c.8010T>A (p.Leu2670=) c.7980T>A (p.Leu2660=) n.8294T>A c.7992T>A (p.Leu2664=) n.8327T>A | gnomAD v4 |
| 1 | g.237655838T>C | CA423820530 | RYR2 | c.7983T>C (p.Leu2661=) c.172T>C c.7935T>C (p.Leu2645=) c.8013T>C (p.Leu2671=) c.8010T>C (p.Leu2670=) c.7980T>C (p.Leu2660=) n.8294T>C c.7992T>C (p.Leu2664=) n.8327T>C | |
| 1 | g.237655838T>G | CA076117 | RYR2 | c.7983T>G (p.Leu2661=) c.172T>G c.7935T>G (p.Leu2645=) c.8013T>G (p.Leu2671=) c.8010T>G (p.Leu2670=) c.7980T>G (p.Leu2660=) n.8294T>G c.7992T>G (p.Leu2664=) n.8327T>G | |
| 1 | g.237655839T>A | CA345400737 | RYR2 | c.7984T>A (p.Phe2662Ile) c.173T>A c.7936T>A (p.Phe2646Ile) c.8014T>A (p.Phe2672Ile) c.8011T>A (p.Phe2671Ile) c.7981T>A (p.Phe2661Ile) n.8295T>A c.7993T>A (p.Phe2665Ile) n.8328T>A | |
| 1 | g.237655839T>C | CA345400739 | RYR2 | c.7984T>C (p.Phe2662Leu) c.173T>C c.7936T>C (p.Phe2646Leu) c.8014T>C (p.Phe2672Leu) c.8011T>C (p.Phe2671Leu) c.7981T>C (p.Phe2661Leu) n.8295T>C c.7993T>C (p.Phe2665Leu) n.8328T>C | ClinVar |
| 1 | g.237655839T>G | CA345400741 | RYR2 | c.7984T>G (p.Phe2662Val) c.173T>G c.7936T>G (p.Phe2646Val) c.8014T>G (p.Phe2672Val) c.8011T>G (p.Phe2671Val) c.7981T>G (p.Phe2661Val) n.8295T>G c.7993T>G (p.Phe2665Val) n.8328T>G | ClinVar dbSNP |
| 1 | g.237655840T>A | CA345400743 | RYR2 | c.7985T>A (p.Phe2662Tyr) c.174T>A c.7937T>A (p.Phe2646Tyr) c.8015T>A (p.Phe2672Tyr) c.8012T>A (p.Phe2671Tyr) c.7982T>A (p.Phe2661Tyr) n.8296T>A c.7994T>A (p.Phe2665Tyr) n.8329T>A | |
| 1 | g.237655840T>C | CA345400744 | RYR2 | c.7985T>C (p.Phe2662Ser) c.174T>C c.7937T>C (p.Phe2646Ser) c.8015T>C (p.Phe2672Ser) c.8012T>C (p.Phe2671Ser) c.7982T>C (p.Phe2661Ser) n.8296T>C c.7994T>C (p.Phe2665Ser) n.8329T>C | dbSNP |
| 1 | g.237655840T>G | CA345400746 | RYR2 | c.7985T>G (p.Phe2662Cys) c.174T>G c.7937T>G (p.Phe2646Cys) c.8015T>G (p.Phe2672Cys) c.8012T>G (p.Phe2671Cys) c.7982T>G (p.Phe2661Cys) n.8296T>G c.7994T>G (p.Phe2665Cys) n.8329T>G | |
| 1 | g.237655840T= | CA2487429720 | RYR2 | c.7985T= (p.Phe2662=) c.174T= c.7937T= (p.Phe2646=) c.8015T= (p.Phe2672=) c.8012T= (p.Phe2671=) c.7982T= (p.Phe2661=) n.8296T= c.7994T= (p.Phe2665=) n.8329T= | |
| 1 | g.237655841C>A | CA345400748 | RYR2 | c.7986C>A (p.Phe2662Leu) c.175C>A c.7938C>A (p.Phe2646Leu) c.8016C>A (p.Phe2672Leu) c.8013C>A (p.Phe2671Leu) c.7983C>A (p.Phe2661Leu) n.8297C>A c.7995C>A (p.Phe2665Leu) n.8330C>A | |
| 1 | g.237655841C>G | CA345400749 | RYR2 | c.7986C>G (p.Phe2662Leu) c.175C>G c.7938C>G (p.Phe2646Leu) c.8016C>G (p.Phe2672Leu) c.8013C>G (p.Phe2671Leu) c.7983C>G (p.Phe2661Leu) n.8297C>G c.7995C>G (p.Phe2665Leu) n.8330C>G | |
| 1 | g.237655841C>T | CA423820533 | RYR2 | c.7986C>T (p.Phe2662=) c.175C>T c.7938C>T (p.Phe2646=) c.8016C>T (p.Phe2672=) c.8013C>T (p.Phe2671=) c.7983C>T (p.Phe2661=) n.8297C>T c.7995C>T (p.Phe2665=) n.8330C>T | |
| 1 | g.237655842A>C | CA345400750 | RYR2 | c.7987A>C (p.Lys2663Gln) c.176A>C c.7939A>C (p.Lys2647Gln) c.8017A>C (p.Lys2673Gln) c.8014A>C (p.Lys2672Gln) c.7984A>C (p.Lys2662Gln) n.8298A>C c.7996A>C (p.Lys2666Gln) n.8331A>C | |
| 1 | g.237655842A>G | CA345400751 | RYR2 | c.7987A>G (p.Lys2663Glu) c.176A>G c.7939A>G (p.Lys2647Glu) c.8017A>G (p.Lys2673Glu) c.8014A>G (p.Lys2672Glu) c.7984A>G (p.Lys2662Glu) n.8298A>G c.7996A>G (p.Lys2666Glu) n.8331A>G | |
| 1 | g.237655842A>T | CA345400753 | RYR2 | c.7987A>T (p.Lys2663Ter) c.176A>T c.7939A>T (p.Lys2647Ter) c.8017A>T (p.Lys2673Ter) c.8014A>T (p.Lys2672Ter) c.7984A>T (p.Lys2662Ter) n.8298A>T c.7996A>T (p.Lys2666Ter) n.8331A>T | |
| 1 | g.237655843A>C | CA345400755 | RYR2 | c.7988A>C (p.Lys2663Thr) c.177A>C c.7940A>C (p.Lys2647Thr) c.8018A>C (p.Lys2673Thr) c.8015A>C (p.Lys2672Thr) c.7985A>C (p.Lys2662Thr) n.8299A>C c.7997A>C (p.Lys2666Thr) n.8332A>C | |
| 1 | g.237655843A>G | CA345400756 | RYR2 | c.7988A>G (p.Lys2663Arg) c.177A>G c.7940A>G (p.Lys2647Arg) c.8018A>G (p.Lys2673Arg) c.8015A>G (p.Lys2672Arg) c.7985A>G (p.Lys2662Arg) n.8299A>G c.7997A>G (p.Lys2666Arg) n.8332A>G | |
| 1 | g.237655843A>T | CA345400758 | RYR2 | c.7988A>T (p.Lys2663Ile) c.177A>T c.7940A>T (p.Lys2647Ile) c.8018A>T (p.Lys2673Ile) c.8015A>T (p.Lys2672Ile) c.7985A>T (p.Lys2662Ile) n.8299A>T c.7997A>T (p.Lys2666Ile) n.8332A>T | |
| 1 | g.237655844A>C | CA345400759 | RYR2 | c.7989A>C (p.Lys2663Asn) c.178A>C c.7941A>C (p.Lys2647Asn) c.8019A>C (p.Lys2673Asn) c.8016A>C (p.Lys2672Asn) c.7986A>C (p.Lys2662Asn) n.8300A>C c.7998A>C (p.Lys2666Asn) n.8333A>C | |
| 1 | g.237655844A>G | CA423820535 | RYR2 | c.7989A>G (p.Lys2663=) c.178A>G c.7941A>G (p.Lys2647=) c.8019A>G (p.Lys2673=) c.8016A>G (p.Lys2672=) c.7986A>G (p.Lys2662=) n.8300A>G c.7998A>G (p.Lys2666=) n.8333A>G | gnomAD v4 COSMIC COSMIC |
| 1 | g.237655844A>T | CA345400761 | RYR2 | c.7989A>T (p.Lys2663Asn) c.178A>T c.7941A>T (p.Lys2647Asn) c.8019A>T (p.Lys2673Asn) c.8016A>T (p.Lys2672Asn) c.7986A>T (p.Lys2662Asn) n.8300A>T c.7998A>T (p.Lys2666Asn) n.8333A>T | gnomAD v4 |
| 1 | g.237655845C>A | CA345400763 | RYR2 | c.7990C>A (p.Leu2664Met) c.179C>A c.7942C>A (p.Leu2648Met) c.8020C>A (p.Leu2674Met) c.8017C>A (p.Leu2673Met) c.7987C>A (p.Leu2663Met) n.8301C>A c.7999C>A (p.Leu2667Met) n.8334C>A | gnomAD v4 |
| 1 | g.237655845C= | CA2487429721 | RYR2 | c.7990C= (p.Leu2664=) c.179C= c.7942C= (p.Leu2648=) c.8020C= (p.Leu2674=) c.8017C= (p.Leu2673=) c.7987C= (p.Leu2663=) n.8301C= c.7999C= (p.Leu2667=) n.8334C= | |
| 1 | g.237655845C>G | CA345400765 | RYR2 | c.7990C>G (p.Leu2664Val) c.179C>G c.7942C>G (p.Leu2648Val) c.8020C>G (p.Leu2674Val) c.8017C>G (p.Leu2673Val) c.7987C>G (p.Leu2663Val) n.8301C>G c.7999C>G (p.Leu2667Val) n.8334C>G | |
| 1 | g.237655845C>T | CA423820538 | RYR2 | c.7990C>T (p.Leu2664=) c.179C>T c.7942C>T (p.Leu2648=) c.8020C>T (p.Leu2674=) c.8017C>T (p.Leu2673=) c.7987C>T (p.Leu2663=) n.8301C>T c.7999C>T (p.Leu2667=) n.8334C>T | ClinVar dbSNP |
| 1 | g.237655846T>A | CA345400767 | RYR2 | c.7991T>A (p.Leu2664Gln) c.180T>A c.7943T>A (p.Leu2648Gln) c.8021T>A (p.Leu2674Gln) c.8018T>A (p.Leu2673Gln) c.7988T>A (p.Leu2663Gln) n.8302T>A c.8000T>A (p.Leu2667Gln) n.8335T>A | gnomAD v4 |
| 1 | g.237655846T>C | CA345400768 | RYR2 | c.7991T>C (p.Leu2664Pro) c.180T>C c.7943T>C (p.Leu2648Pro) c.8021T>C (p.Leu2674Pro) c.8018T>C (p.Leu2673Pro) c.7988T>C (p.Leu2663Pro) n.8302T>C c.8000T>C (p.Leu2667Pro) n.8335T>C | |
| 1 | g.237655846T>G | CA345400770 | RYR2 | c.7991T>G (p.Leu2664Arg) c.180T>G c.7943T>G (p.Leu2648Arg) c.8021T>G (p.Leu2674Arg) c.8018T>G (p.Leu2673Arg) c.7988T>G (p.Leu2663Arg) n.8302T>G c.8000T>G (p.Leu2667Arg) n.8335T>G | |
| 1 | g.237655847G>A | CA423820539 | RYR2 | c.7992G>A (p.Leu2664=) c.181G>A c.7944G>A (p.Leu2648=) c.8022G>A (p.Leu2674=) c.8019G>A (p.Leu2673=) c.7989G>A (p.Leu2663=) n.8303G>A c.8001G>A (p.Leu2667=) n.8336G>A | dbSNP gnomAD v2 |
| 1 | g.237655847G>C | CA423820540 | RYR2 | c.7992G>C (p.Leu2664=) c.181G>C c.7944G>C (p.Leu2648=) c.8022G>C (p.Leu2674=) c.8019G>C (p.Leu2673=) c.7989G>C (p.Leu2663=) n.8303G>C c.8001G>C (p.Leu2667=) n.8336G>C | |
| 1 | g.237655847G= | CA2487429722 | RYR2 | c.7992G= (p.Leu2664=) c.181G= c.7944G= (p.Leu2648=) c.8022G= (p.Leu2674=) c.8019G= (p.Leu2673=) c.7989G= (p.Leu2663=) n.8303G= c.8001G= (p.Leu2667=) n.8336G= | |
| 1 | g.237655847G>T | CA423820541 | RYR2 | c.7992G>T (p.Leu2664=) c.181G>T c.7944G>T (p.Leu2648=) c.8022G>T (p.Leu2674=) c.8019G>T (p.Leu2673=) c.7989G>T (p.Leu2663=) n.8303G>T c.8001G>T (p.Leu2667=) n.8336G>T | gnomAD v4 |
| 1 | g.237655848G>A | CA087551 | RYR2 | c.7993G>A (p.Ala2665Thr) c.182G>A c.7945G>A (p.Ala2649Thr) c.8023G>A (p.Ala2675Thr) c.8020G>A (p.Ala2674Thr) c.7990G>A (p.Ala2664Thr) n.8304G>A c.8002G>A (p.Ala2668Thr) n.8337G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237655848G>C | CA345400772 | RYR2 | c.7993G>C (p.Ala2665Pro) c.182G>C c.7945G>C (p.Ala2649Pro) c.8023G>C (p.Ala2675Pro) c.8020G>C (p.Ala2674Pro) c.7990G>C (p.Ala2664Pro) n.8304G>C c.8002G>C (p.Ala2668Pro) n.8337G>C | ClinVar COSMIC COSMIC |
| 1 | g.237655848G= | CA2487429723 | RYR2 | c.7993G= (p.Ala2665=) c.182G= c.7945G= (p.Ala2649=) c.8023G= (p.Ala2675=) c.8020G= (p.Ala2674=) c.7990G= (p.Ala2664=) n.8304G= c.8002G= (p.Ala2668=) n.8337G= | |
| 1 | g.237655848G>T | CA345400774 | RYR2 | c.7993G>T (p.Ala2665Ser) c.182G>T c.7945G>T (p.Ala2649Ser) c.8023G>T (p.Ala2675Ser) c.8020G>T (p.Ala2674Ser) c.7990G>T (p.Ala2664Ser) n.8304G>T c.8002G>T (p.Ala2668Ser) n.8337G>T | gnomAD v4 COSMIC |
| 1 | g.237655849C>A | CA345400776 | RYR2 | c.7994C>A (p.Ala2665Glu) c.183C>A c.7946C>A (p.Ala2649Glu) c.8024C>A (p.Ala2675Glu) c.8021C>A (p.Ala2674Glu) c.7991C>A (p.Ala2664Glu) n.8305C>A c.8003C>A (p.Ala2668Glu) n.8338C>A | gnomAD v4 |
| 1 | g.237655849C>G | CA345400777 | RYR2 | c.7994C>G (p.Ala2665Gly) c.183C>G c.7946C>G (p.Ala2649Gly) c.8024C>G (p.Ala2675Gly) c.8021C>G (p.Ala2674Gly) c.7991C>G (p.Ala2664Gly) n.8305C>G c.8003C>G (p.Ala2668Gly) n.8338C>G | COSMIC COSMIC |
| 1 | g.237655849C>T | CA345400778 | RYR2 | c.7994C>T (p.Ala2665Val) c.183C>T c.7946C>T (p.Ala2649Val) c.8024C>T (p.Ala2675Val) c.8021C>T (p.Ala2674Val) c.7991C>T (p.Ala2664Val) n.8305C>T c.8003C>T (p.Ala2668Val) n.8338C>T | gnomAD v4 |
| 1 | g.237655850A>C | CA423820544 | RYR2 | c.7995A>C (p.Ala2665=) c.184A>C c.7947A>C (p.Ala2649=) c.8025A>C (p.Ala2675=) c.8022A>C (p.Ala2674=) c.7992A>C (p.Ala2664=) n.8306A>C c.8004A>C (p.Ala2668=) n.8339A>C | COSMIC COSMIC |
| 1 | g.237655850A>G | CA423820545 | RYR2 | c.7995A>G (p.Ala2665=) c.184A>G c.7947A>G (p.Ala2649=) c.8025A>G (p.Ala2675=) c.8022A>G (p.Ala2674=) c.7992A>G (p.Ala2664=) n.8306A>G c.8004A>G (p.Ala2668=) n.8339A>G | gnomAD v4 |
| 1 | g.237655850A>T | CA423820546 | RYR2 | c.7995A>T (p.Ala2665=) c.184A>T c.7947A>T (p.Ala2649=) c.8025A>T (p.Ala2675=) c.8022A>T (p.Ala2674=) c.7992A>T (p.Ala2664=) n.8306A>T c.8004A>T (p.Ala2668=) n.8339A>T | |
| 1 | g.237655851C>A | CA39802441 | RYR2 | c.7996C>A (p.Leu2666Met) c.185C>A c.7948C>A (p.Leu2650Met) c.8026C>A (p.Leu2676Met) c.8023C>A (p.Leu2675Met) c.7993C>A (p.Leu2665Met) n.8307C>A c.8005C>A (p.Leu2669Met) n.8340C>A | ClinVar dbSNP |
| 1 | g.237655851C= | CA1143723047 | RYR2 | c.7996C= (p.Leu2666=) c.185C= c.7948C= (p.Leu2650=) c.8026C= (p.Leu2676=) c.8023C= (p.Leu2675=) c.7993C= (p.Leu2665=) n.8307C= c.8005C= (p.Leu2669=) n.8340C= | |
| 1 | g.237655851C>G | CA087552 | RYR2 | c.7996C>G (p.Leu2666Val) c.185C>G c.7948C>G (p.Leu2650Val) c.8026C>G (p.Leu2676Val) c.8023C>G (p.Leu2675Val) c.7993C>G (p.Leu2665Val) n.8307C>G c.8005C>G (p.Leu2669Val) n.8340C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237655851C>T | CA423820549 | RYR2 | c.7996C>T (p.Leu2666=) c.185C>T c.7948C>T (p.Leu2650=) c.8026C>T (p.Leu2676=) c.8023C>T (p.Leu2675=) c.7993C>T (p.Leu2665=) n.8307C>T c.8005C>T (p.Leu2669=) n.8340C>T | |
| 1 | g.237655852T>A | CA087553 | RYR2 | c.7997T>A (p.Leu2666Gln) c.186T>A c.7949T>A (p.Leu2650Gln) c.8027T>A (p.Leu2676Gln) c.8024T>A (p.Leu2675Gln) c.7994T>A (p.Leu2665Gln) n.8308T>A c.8006T>A (p.Leu2669Gln) n.8341T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237655852T>C | CA076105 | RYR2 | c.7997T>C (p.Leu2666Pro) c.186T>C c.7949T>C (p.Leu2650Pro) c.8027T>C (p.Leu2676Pro) c.8024T>C (p.Leu2675Pro) c.7994T>C (p.Leu2665Pro) n.8308T>C c.8006T>C (p.Leu2669Pro) n.8341T>C | |
| 1 | g.237655852T>G | CA345400781 | RYR2 | c.7997T>G (p.Leu2666Arg) c.186T>G c.7949T>G (p.Leu2650Arg) c.8027T>G (p.Leu2676Arg) c.8024T>G (p.Leu2675Arg) c.7994T>G (p.Leu2665Arg) n.8308T>G c.8006T>G (p.Leu2669Arg) n.8341T>G | |
| 1 | g.237655852T= | CA2487429724 | RYR2 | c.7997T= (p.Leu2666=) c.186T= c.7949T= (p.Leu2650=) c.8027T= (p.Leu2676=) c.8024T= (p.Leu2675=) c.7994T= (p.Leu2665=) n.8308T= c.8006T= (p.Leu2669=) n.8341T= | |
| 1 | g.237655853G>A | CA076108 | RYR2 | c.7998G>A (p.Leu2666=) c.187G>A c.7950G>A (p.Leu2650=) c.8028G>A (p.Leu2676=) c.8025G>A (p.Leu2675=) c.7995G>A (p.Leu2665=) n.8309G>A c.8007G>A (p.Leu2669=) n.8342G>A | |
| 1 | g.237655853G>C | CA423820552 | RYR2 | c.7998G>C (p.Leu2666=) c.187G>C c.7950G>C (p.Leu2650=) c.8028G>C (p.Leu2676=) c.8025G>C (p.Leu2675=) c.7995G>C (p.Leu2665=) n.8309G>C c.8007G>C (p.Leu2669=) n.8342G>C | |
| 1 | g.237655853G>T | CA423820553 | RYR2 | c.7998G>T (p.Leu2666=) c.187G>T c.7950G>T (p.Leu2650=) c.8028G>T (p.Leu2676=) c.8025G>T (p.Leu2675=) c.7995G>T (p.Leu2665=) n.8309G>T c.8007G>T (p.Leu2669=) n.8342G>T | gnomAD v4 |
| 1 | g.237655854C>A | CA345400787 | RYR2 | c.7999C>A (p.Pro2667Thr) c.188C>A c.7951C>A (p.Pro2651Thr) c.8029C>A (p.Pro2677Thr) c.8026C>A (p.Pro2676Thr) c.7996C>A (p.Pro2666Thr) n.8310C>A c.8008C>A (p.Pro2670Thr) n.8343C>A | gnomAD v4 |
| 1 | g.237655854C= | CA2487429725 | RYR2 | c.7999C= (p.Pro2667=) c.188C= c.7951C= (p.Pro2651=) c.8029C= (p.Pro2677=) c.8026C= (p.Pro2676=) c.7996C= (p.Pro2666=) n.8310C= c.8008C= (p.Pro2670=) n.8343C= | |
| 1 | g.237655854C>G | CA345400785 | RYR2 | c.7999C>G (p.Pro2667Ala) c.188C>G c.7951C>G (p.Pro2651Ala) c.8029C>G (p.Pro2677Ala) c.8026C>G (p.Pro2676Ala) c.7996C>G (p.Pro2666Ala) n.8310C>G c.8008C>G (p.Pro2670Ala) n.8343C>G | |
| 1 | g.237655854C>T | CA39802475 | RYR2 | c.7999C>T (p.Pro2667Ser) c.188C>T c.7951C>T (p.Pro2651Ser) c.8029C>T (p.Pro2677Ser) c.8026C>T (p.Pro2676Ser) c.7996C>T (p.Pro2666Ser) n.8310C>T c.8008C>T (p.Pro2670Ser) n.8343C>T | dbSNP gnomAD v4 |
| 1 | g.237655855C>A | CA345400789 | RYR2 | c.8000C>A (p.Pro2667His) c.189C>A c.7952C>A (p.Pro2651His) c.8030C>A (p.Pro2677His) c.8027C>A (p.Pro2676His) c.7997C>A (p.Pro2666His) n.8311C>A c.8009C>A (p.Pro2670His) n.8344C>A | COSMIC |
| 1 | g.237655855C= | CA2487429726 | RYR2 | c.8000C= (p.Pro2667=) c.189C= c.7952C= (p.Pro2651=) c.8030C= (p.Pro2677=) c.8027C= (p.Pro2676=) c.7997C= (p.Pro2666=) n.8311C= c.8009C= (p.Pro2670=) n.8344C= | |
| 1 | g.237655855C>G | CA345400790 | RYR2 | c.8000C>G (p.Pro2667Arg) c.189C>G c.7952C>G (p.Pro2651Arg) c.8030C>G (p.Pro2677Arg) c.8027C>G (p.Pro2676Arg) c.7997C>G (p.Pro2666Arg) n.8311C>G c.8009C>G (p.Pro2670Arg) n.8344C>G | ClinVar dbSNP |
| 1 | g.237655855C>T | CA345400792 | RYR2 | c.8000C>T (p.Pro2667Leu) c.189C>T c.7952C>T (p.Pro2651Leu) c.8030C>T (p.Pro2677Leu) c.8027C>T (p.Pro2676Leu) c.7997C>T (p.Pro2666Leu) n.8311C>T c.8009C>T (p.Pro2670Leu) n.8344C>T | |
| 1 | g.237655856T>A | CA423820558 | RYR2 | c.8001T>A (p.Pro2667=) c.190T>A c.7953T>A (p.Pro2651=) c.8031T>A (p.Pro2677=) c.8028T>A (p.Pro2676=) c.7998T>A (p.Pro2666=) n.8312T>A c.8010T>A (p.Pro2670=) n.8345T>A | |
| 1 | g.237655856T>C | CA423820559 | RYR2 | c.8001T>C (p.Pro2667=) c.190T>C c.7953T>C (p.Pro2651=) c.8031T>C (p.Pro2677=) c.8028T>C (p.Pro2676=) c.7998T>C (p.Pro2666=) n.8312T>C c.8010T>C (p.Pro2670=) n.8345T>C | |
| 1 | g.237655856T>G | CA423820560 | RYR2 | c.8001T>G (p.Pro2667=) c.190T>G c.7953T>G (p.Pro2651=) c.8031T>G (p.Pro2677=) c.8028T>G (p.Pro2676=) c.7998T>G (p.Pro2666=) n.8312T>G c.8010T>G (p.Pro2670=) n.8345T>G | |
| 1 | g.237655857T>A | CA345400794 | RYR2 | c.8002T>A (p.Cys2668Ser) c.191T>A c.7954T>A (p.Cys2652Ser) c.8032T>A (p.Cys2678Ser) c.8029T>A (p.Cys2677Ser) c.7999T>A (p.Cys2667Ser) n.8313T>A c.8011T>A (p.Cys2671Ser) n.8346T>A | |
| 1 | g.237655857T>C | CA345400796 | RYR2 | c.8002T>C (p.Cys2668Arg) c.191T>C c.7954T>C (p.Cys2652Arg) c.8032T>C (p.Cys2678Arg) c.8029T>C (p.Cys2677Arg) c.7999T>C (p.Cys2667Arg) n.8313T>C c.8011T>C (p.Cys2671Arg) n.8346T>C | |
| 1 | g.237655857T>G | CA345400797 | RYR2 | c.8002T>G (p.Cys2668Gly) c.191T>G c.7954T>G (p.Cys2652Gly) c.8032T>G (p.Cys2678Gly) c.8029T>G (p.Cys2677Gly) c.7999T>G (p.Cys2667Gly) n.8313T>G c.8011T>G (p.Cys2671Gly) n.8346T>G | |
| 1 | g.237655858G>A | CA345400798 | RYR2 | c.8003G>A (p.Cys2668Tyr) c.192G>A c.7955G>A (p.Cys2652Tyr) c.8033G>A (p.Cys2678Tyr) c.8030G>A (p.Cys2677Tyr) c.8000G>A (p.Cys2667Tyr) n.8314G>A c.8012G>A (p.Cys2671Tyr) n.8347G>A | |
| 1 | g.237655858G>C | CA345400800 | RYR2 | c.8003G>C (p.Cys2668Ser) c.192G>C c.7955G>C (p.Cys2652Ser) c.8033G>C (p.Cys2678Ser) c.8030G>C (p.Cys2677Ser) c.8000G>C (p.Cys2667Ser) n.8314G>C c.8012G>C (p.Cys2671Ser) n.8347G>C | |
| 1 | g.237655858G>T | CA345400799 | RYR2 | c.8003G>T (p.Cys2668Phe) c.192G>T c.7955G>T (p.Cys2652Phe) c.8033G>T (p.Cys2678Phe) c.8030G>T (p.Cys2677Phe) c.8000G>T (p.Cys2667Phe) n.8314G>T c.8012G>T (p.Cys2671Phe) n.8347G>T | |
| 1 | g.237655859C>A | CA345400802 | RYR2 | c.8004C>A (p.Cys2668Ter) c.193C>A c.7956C>A (p.Cys2652Ter) c.8034C>A (p.Cys2678Ter) c.8031C>A (p.Cys2677Ter) c.8001C>A (p.Cys2667Ter) n.8315C>A c.8013C>A (p.Cys2671Ter) n.8348C>A | |
| 1 | g.237655859C= | CA2487429727 | RYR2 | c.8004C= (p.Cys2668=) c.193C= c.7956C= (p.Cys2652=) c.8034C= (p.Cys2678=) c.8031C= (p.Cys2677=) c.8001C= (p.Cys2667=) n.8315C= c.8013C= (p.Cys2671=) n.8348C= | |
| 1 | g.237655859C>G | CA345400804 | RYR2 | c.8004C>G (p.Cys2668Trp) c.193C>G c.7956C>G (p.Cys2652Trp) c.8034C>G (p.Cys2678Trp) c.8031C>G (p.Cys2677Trp) c.8001C>G (p.Cys2667Trp) n.8315C>G c.8013C>G (p.Cys2671Trp) n.8348C>G | ClinVar |
| 1 | g.237655859C>T | CA423820562 | RYR2 | c.8004C>T (p.Cys2668=) c.193C>T c.7956C>T (p.Cys2652=) c.8034C>T (p.Cys2678=) c.8031C>T (p.Cys2677=) c.8001C>T (p.Cys2667=) n.8315C>T c.8013C>T (p.Cys2671=) n.8348C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.237655860C>A | CA345400805 | RYR2 | c.8005C>A (p.Leu2669Met) c.194C>A c.7957C>A (p.Leu2653Met) c.8035C>A (p.Leu2679Met) c.8032C>A (p.Leu2678Met) c.8002C>A (p.Leu2668Met) n.8316C>A c.8014C>A (p.Leu2672Met) n.8349C>A | |
| 1 | g.237655860C>G | CA345400806 | RYR2 | c.8005C>G (p.Leu2669Val) c.194C>G c.7957C>G (p.Leu2653Val) c.8035C>G (p.Leu2679Val) c.8032C>G (p.Leu2678Val) c.8002C>G (p.Leu2668Val) n.8316C>G c.8014C>G (p.Leu2672Val) n.8349C>G | |
| 1 | g.237655860C>T | CA423820564 | RYR2 | c.8005C>T (p.Leu2669=) c.194C>T c.7957C>T (p.Leu2653=) c.8035C>T (p.Leu2679=) c.8032C>T (p.Leu2678=) c.8002C>T (p.Leu2668=) n.8316C>T c.8014C>T (p.Leu2672=) n.8349C>T | |
| 1 | g.237655861T>A | CA345400809 | RYR2 | c.8006T>A (p.Leu2669Gln) c.195T>A c.7958T>A (p.Leu2653Gln) c.8036T>A (p.Leu2679Gln) c.8033T>A (p.Leu2678Gln) c.8003T>A (p.Leu2668Gln) n.8317T>A c.8015T>A (p.Leu2672Gln) n.8350T>A | |
| 1 | g.237655861T>C | CA345400807 | RYR2 | c.8006T>C (p.Leu2669Pro) c.195T>C c.7958T>C (p.Leu2653Pro) c.8036T>C (p.Leu2679Pro) c.8033T>C (p.Leu2678Pro) c.8003T>C (p.Leu2668Pro) n.8317T>C c.8015T>C (p.Leu2672Pro) n.8350T>C | |
| 1 | g.237655861T>G | CA345400808 | RYR2 | c.8006T>G (p.Leu2669Arg) c.195T>G c.7958T>G (p.Leu2653Arg) c.8036T>G (p.Leu2679Arg) c.8033T>G (p.Leu2678Arg) c.8003T>G (p.Leu2668Arg) n.8317T>G c.8015T>G (p.Leu2672Arg) n.8350T>G | |
| 1 | g.237655862G>A | CA423820565 | RYR2 | c.8007G>A (p.Leu2669=) c.196G>A c.7959G>A (p.Leu2653=) c.8037G>A (p.Leu2679=) c.8034G>A (p.Leu2678=) c.8004G>A (p.Leu2668=) n.8318G>A c.8016G>A (p.Leu2672=) n.8351G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237655862G>C | CA423820566 | RYR2 | c.8007G>C (p.Leu2669=) c.196G>C c.7959G>C (p.Leu2653=) c.8037G>C (p.Leu2679=) c.8034G>C (p.Leu2678=) c.8004G>C (p.Leu2668=) n.8318G>C c.8016G>C (p.Leu2672=) n.8351G>C | |
| 1 | g.237655862G= | CA2487429728 | RYR2 | c.8007G= (p.Leu2669=) c.196G= c.7959G= (p.Leu2653=) c.8037G= (p.Leu2679=) c.8034G= (p.Leu2678=) c.8004G= (p.Leu2668=) n.8318G= c.8016G= (p.Leu2672=) n.8351G= | |
| 1 | g.237655862G>T | CA423820567 | RYR2 | c.8007G>T (p.Leu2669=) c.196G>T c.7959G>T (p.Leu2653=) c.8037G>T (p.Leu2679=) c.8034G>T (p.Leu2678=) c.8004G>T (p.Leu2668=) n.8318G>T c.8016G>T (p.Leu2672=) n.8351G>T | |
| 1 | g.237655863A>C | CA345400812 | RYR2 | c.8008A>C (p.Ser2670Arg) c.197A>C c.7960A>C (p.Ser2654Arg) c.8038A>C (p.Ser2680Arg) c.8035A>C (p.Ser2679Arg) c.8005A>C (p.Ser2669Arg) n.8319A>C c.8017A>C (p.Ser2673Arg) n.8352A>C | |
| 1 | g.237655863A>G | CA345400813 | RYR2 | c.8008A>G (p.Ser2670Gly) c.197A>G c.7960A>G (p.Ser2654Gly) c.8038A>G (p.Ser2680Gly) c.8035A>G (p.Ser2679Gly) c.8005A>G (p.Ser2669Gly) n.8319A>G c.8017A>G (p.Ser2673Gly) n.8352A>G | |
| 1 | g.237655863A>T | CA345400815 | RYR2 | c.8008A>T (p.Ser2670Cys) c.197A>T c.7960A>T (p.Ser2654Cys) c.8038A>T (p.Ser2680Cys) c.8035A>T (p.Ser2679Cys) c.8005A>T (p.Ser2669Cys) n.8319A>T c.8017A>T (p.Ser2673Cys) n.8352A>T | |
| 1 | g.237655864G>A | CA345400816 | RYR2 | c.8009G>A (p.Ser2670Asn) c.198G>A c.7961G>A (p.Ser2654Asn) c.8039G>A (p.Ser2680Asn) c.8036G>A (p.Ser2679Asn) c.8006G>A (p.Ser2669Asn) n.8320G>A c.8018G>A (p.Ser2673Asn) n.8353G>A | |
| 1 | g.237655864G>C | CA345400818 | RYR2 | c.8009G>C (p.Ser2670Thr) c.198G>C c.7961G>C (p.Ser2654Thr) c.8039G>C (p.Ser2680Thr) c.8036G>C (p.Ser2679Thr) c.8006G>C (p.Ser2669Thr) n.8320G>C c.8018G>C (p.Ser2673Thr) n.8353G>C | ClinVar gnomAD v4 |
| 1 | g.237655864G>T | CA345400820 | RYR2 | c.8009G>T (p.Ser2670Ile) c.198G>T c.7961G>T (p.Ser2654Ile) c.8039G>T (p.Ser2680Ile) c.8036G>T (p.Ser2679Ile) c.8006G>T (p.Ser2669Ile) n.8320G>T c.8018G>T (p.Ser2673Ile) n.8353G>T | COSMIC COSMIC |
| 1 | g.237655865T>A | CA345400823 | RYR2 | c.8010T>A (p.Ser2670Arg) c.199T>A c.7962T>A (p.Ser2654Arg) c.8040T>A (p.Ser2680Arg) c.8037T>A (p.Ser2679Arg) c.8007T>A (p.Ser2669Arg) n.8321T>A c.8019T>A (p.Ser2673Arg) n.8354T>A | |
| 1 | g.237655865T>C | CA423820569 | RYR2 | c.8010T>C (p.Ser2670=) c.199T>C c.7962T>C (p.Ser2654=) c.8040T>C (p.Ser2680=) c.8037T>C (p.Ser2679=) c.8007T>C (p.Ser2669=) n.8321T>C c.8019T>C (p.Ser2673=) n.8354T>C | |
| 1 | g.237655865T>G | CA345400821 | RYR2 | c.8010T>G (p.Ser2670Arg) c.199T>G c.7962T>G (p.Ser2654Arg) c.8040T>G (p.Ser2680Arg) c.8037T>G (p.Ser2679Arg) c.8007T>G (p.Ser2669Arg) n.8321T>G c.8019T>G (p.Ser2673Arg) n.8354T>G | |
| 1 | g.237655866G>A | CA345400824 | RYR2 | c.8011G>A (p.Ala2671Thr) c.200G>A c.7963G>A (p.Ala2655Thr) c.8041G>A (p.Ala2681Thr) c.8038G>A (p.Ala2680Thr) c.8008G>A (p.Ala2670Thr) n.8322G>A c.8020G>A (p.Ala2674Thr) n.8355G>A | gnomAD v4 |
| 1 | g.237655866G>C | CA345400825 | RYR2 | c.8011G>C (p.Ala2671Pro) c.200G>C c.7963G>C (p.Ala2655Pro) c.8041G>C (p.Ala2681Pro) c.8038G>C (p.Ala2680Pro) c.8008G>C (p.Ala2670Pro) n.8322G>C c.8020G>C (p.Ala2674Pro) n.8355G>C | |
| 1 | g.237655866G>T | CA345400826 | RYR2 | c.8011G>T (p.Ala2671Ser) c.200G>T c.7963G>T (p.Ala2655Ser) c.8041G>T (p.Ala2681Ser) c.8038G>T (p.Ala2680Ser) c.8008G>T (p.Ala2670Ser) n.8322G>T c.8020G>T (p.Ala2674Ser) n.8355G>T | |
| 1 | g.237655867C>A | CA345400827 | RYR2 | c.8012C>A (p.Ala2671Glu) c.201C>A c.7964C>A (p.Ala2655Glu) c.8042C>A (p.Ala2681Glu) c.8039C>A (p.Ala2680Glu) c.8009C>A (p.Ala2670Glu) n.8323C>A c.8021C>A (p.Ala2674Glu) n.8356C>A | |
| 1 | g.237655867C>G | CA345400828 | RYR2 | c.8012C>G (p.Ala2671Gly) c.201C>G c.7964C>G (p.Ala2655Gly) c.8042C>G (p.Ala2681Gly) c.8039C>G (p.Ala2680Gly) c.8009C>G (p.Ala2670Gly) n.8323C>G c.8021C>G (p.Ala2674Gly) n.8356C>G | |
| 1 | g.237655867C>T | CA345400829 | RYR2 | c.8012C>T (p.Ala2671Val) c.201C>T c.7964C>T (p.Ala2655Val) c.8042C>T (p.Ala2681Val) c.8039C>T (p.Ala2680Val) c.8009C>T (p.Ala2670Val) n.8323C>T c.8021C>T (p.Ala2674Val) n.8356C>T | gnomAD v4 |
| 1 | g.237655868A= | CA2487429729 | RYR2 | c.8013A= (p.Ala2671=) c.202A= c.7965A= (p.Ala2655=) c.8043A= (p.Ala2681=) c.8040A= (p.Ala2680=) c.8010A= (p.Ala2670=) n.8324A= c.8022A= (p.Ala2674=) n.8357A= | |
| 1 | g.237655868A>C | CA423820573 | RYR2 | c.8013A>C (p.Ala2671=) c.202A>C c.7965A>C (p.Ala2655=) c.8043A>C (p.Ala2681=) c.8040A>C (p.Ala2680=) c.8010A>C (p.Ala2670=) n.8324A>C c.8022A>C (p.Ala2674=) n.8357A>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.237655868A>G | CA423820571 | RYR2 | c.8013A>G (p.Ala2671=) c.202A>G c.7965A>G (p.Ala2655=) c.8043A>G (p.Ala2681=) c.8040A>G (p.Ala2680=) c.8010A>G (p.Ala2670=) n.8324A>G c.8022A>G (p.Ala2674=) n.8357A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237655868A>T | CA423820572 | RYR2 | c.8013A>T (p.Ala2671=) c.202A>T c.7965A>T (p.Ala2655=) c.8043A>T (p.Ala2681=) c.8040A>T (p.Ala2680=) c.8010A>T (p.Ala2670=) n.8324A>T c.8022A>T (p.Ala2674=) n.8357A>T | ClinVar dbSNP |
| 1 | g.237655869G>A | CA345400830 | RYR2 | c.8014G>A (p.Val2672Ile) c.203G>A c.7966G>A (p.Val2656Ile) c.8044G>A (p.Val2682Ile) c.8041G>A (p.Val2681Ile) c.8011G>A (p.Val2671Ile) n.8325G>A c.8023G>A (p.Val2675Ile) n.8358G>A | |
| 1 | g.237655869G>C | CA345400832 | RYR2 | c.8014G>C (p.Val2672Leu) c.203G>C c.7966G>C (p.Val2656Leu) c.8044G>C (p.Val2682Leu) c.8041G>C (p.Val2681Leu) c.8011G>C (p.Val2671Leu) n.8325G>C c.8023G>C (p.Val2675Leu) n.8358G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237655869G= | CA2487429730 | RYR2 | c.8014G= (p.Val2672=) c.203G= c.7966G= (p.Val2656=) c.8044G= (p.Val2682=) c.8041G= (p.Val2681=) c.8011G= (p.Val2671=) n.8325G= c.8023G= (p.Val2675=) n.8358G= | |
| 1 | g.237655869G>T | CA345400831 | RYR2 | c.8014G>T (p.Val2672Phe) c.203G>T c.7966G>T (p.Val2656Phe) c.8044G>T (p.Val2682Phe) c.8041G>T (p.Val2681Phe) c.8011G>T (p.Val2671Phe) n.8325G>T c.8023G>T (p.Val2675Phe) n.8358G>T | |
| 1 | g.237655870T>A | CA345400833 | RYR2 | c.8015T>A (p.Val2672Asp) c.204T>A c.7967T>A (p.Val2656Asp) c.8045T>A (p.Val2682Asp) c.8042T>A (p.Val2681Asp) c.8012T>A (p.Val2671Asp) n.8326T>A c.8024T>A (p.Val2675Asp) n.8359T>A | |
| 1 | g.237655870T>C | CA345400834 | RYR2 | c.8015T>C (p.Val2672Ala) c.204T>C c.7967T>C (p.Val2656Ala) c.8045T>C (p.Val2682Ala) c.8042T>C (p.Val2681Ala) c.8012T>C (p.Val2671Ala) n.8326T>C c.8024T>C (p.Val2675Ala) n.8359T>C | |
| 1 | g.237655870T>G | CA345400835 | RYR2 | c.8015T>G (p.Val2672Gly) c.204T>G c.7967T>G (p.Val2656Gly) c.8045T>G (p.Val2682Gly) c.8042T>G (p.Val2681Gly) c.8012T>G (p.Val2671Gly) n.8326T>G c.8024T>G (p.Val2675Gly) n.8359T>G | |
| 1 | g.237655871T>A | CA423820578 | RYR2 | c.8016T>A (p.Val2672=) c.205T>A c.7968T>A (p.Val2656=) c.8046T>A (p.Val2682=) c.8043T>A (p.Val2681=) c.8013T>A (p.Val2671=) n.8327T>A c.8025T>A (p.Val2675=) n.8360T>A | |
| 1 | g.237655871T>C | CA423820579 | RYR2 | c.8016T>C (p.Val2672=) c.205T>C c.7968T>C (p.Val2656=) c.8046T>C (p.Val2682=) c.8043T>C (p.Val2681=) c.8013T>C (p.Val2671=) n.8327T>C c.8025T>C (p.Val2675=) n.8360T>C | |
| 1 | g.237655871T>G | CA087555 | RYR2 | c.8016T>G (p.Val2672=) c.205T>G c.7968T>G (p.Val2656=) c.8046T>G (p.Val2682=) c.8043T>G (p.Val2681=) c.8013T>G (p.Val2671=) n.8327T>G c.8025T>G (p.Val2675=) n.8360T>G | dbSNP ExAC gnomAD v2 |
| 1 | g.237655871T= | CA1147636522 | RYR2 | c.8016T= (p.Val2672=) c.205T= c.7968T= (p.Val2656=) c.8046T= (p.Val2682=) c.8043T= (p.Val2681=) c.8013T= (p.Val2671=) n.8327T= c.8025T= (p.Val2675=) n.8360T= | |
| 1 | g.237655872G>A | CA345400836 | RYR2 | c.8017G>A (p.Ala2673Thr) c.206G>A c.7969G>A (p.Ala2657Thr) c.8047G>A (p.Ala2683Thr) c.8044G>A (p.Ala2682Thr) c.8014G>A (p.Ala2672Thr) n.8328G>A c.8026G>A (p.Ala2676Thr) n.8361G>A | |
| 1 | g.237655872G>C | CA345400837 | RYR2 | c.8017G>C (p.Ala2673Pro) c.206G>C c.7969G>C (p.Ala2657Pro) c.8047G>C (p.Ala2683Pro) c.8044G>C (p.Ala2682Pro) c.8014G>C (p.Ala2672Pro) n.8328G>C c.8026G>C (p.Ala2676Pro) n.8361G>C | |
| 1 | g.237655872G>T | CA345400838 | RYR2 | c.8017G>T (p.Ala2673Ser) c.206G>T c.7969G>T (p.Ala2657Ser) c.8047G>T (p.Ala2683Ser) c.8044G>T (p.Ala2682Ser) c.8014G>T (p.Ala2672Ser) n.8328G>T c.8026G>T (p.Ala2676Ser) n.8361G>T | ClinVar gnomAD v4 |
| 1 | g.237655873C>A | CA345400839 | RYR2 | c.8018C>A (p.Ala2673Glu) c.207C>A c.7970C>A (p.Ala2657Glu) c.8048C>A (p.Ala2683Glu) c.8045C>A (p.Ala2682Glu) c.8015C>A (p.Ala2672Glu) n.8329C>A c.8027C>A (p.Ala2676Glu) n.8362C>A | |
| 1 | g.237655873C= | CA2487429731 | RYR2 | c.8018C= (p.Ala2673=) c.207C= c.7970C= (p.Ala2657=) c.8048C= (p.Ala2683=) c.8045C= (p.Ala2682=) c.8015C= (p.Ala2672=) n.8329C= c.8027C= (p.Ala2676=) n.8362C= | |
| 1 | g.237655873C>G | CA345400840 | RYR2 | c.8018C>G (p.Ala2673Gly) c.207C>G c.7970C>G (p.Ala2657Gly) c.8048C>G (p.Ala2683Gly) c.8045C>G (p.Ala2682Gly) c.8015C>G (p.Ala2672Gly) n.8329C>G c.8027C>G (p.Ala2676Gly) n.8362C>G | |
| 1 | g.237655873C>T | CA351927 | RYR2 | c.8018C>T (p.Ala2673Val) c.207C>T c.7970C>T (p.Ala2657Val) c.8048C>T (p.Ala2683Val) c.8045C>T (p.Ala2682Val) c.8015C>T (p.Ala2672Val) n.8329C>T c.8027C>T (p.Ala2676Val) n.8362C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |