| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38586060C= | CA2335095538 | RYR1 | c.1805-31C= c.3202-31C= c.3174-31C= n.262-31C= c.14869-31C= (n.14869-31C=) c.14854-31C= (n.14854-31C=) c.14851-31C= (n.14851-31C=) c.14836-31C= (n.14836-31C=) c.14866-31C= (n.14866-31C=) c.14782-31C= (n.14782-31C=) | |
| 19 | g.38586060C>T | CA061755 | RYR1 | c.1805-31C>T c.3202-31C>T c.3174-31C>T n.262-31C>T c.14869-31C>T (n.14869-31C>T) c.14854-31C>T (n.14854-31C>T) c.14851-31C>T (n.14851-31C>T) c.14836-31C>T (n.14836-31C>T) c.14866-31C>T (n.14866-31C>T) c.14782-31C>T (n.14782-31C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38586061C>G | CA2584911427 | RYR1 | c.1805-30C>G c.3202-30C>G c.3174-30C>G n.262-30C>G c.14869-30C>G (n.14869-30C>G) c.14854-30C>G (n.14854-30C>G) c.14851-30C>G (n.14851-30C>G) c.14836-30C>G (n.14836-30C>G) c.14866-30C>G (n.14866-30C>G) c.14782-30C>G (n.14782-30C>G) | gnomAD v4 |
| 19 | g.38586061C>T | CA2584911428 | RYR1 | c.1805-30C>T c.3202-30C>T c.3174-30C>T n.262-30C>T c.14869-30C>T (n.14869-30C>T) c.14854-30C>T (n.14854-30C>T) c.14851-30C>T (n.14851-30C>T) c.14836-30C>T (n.14836-30C>T) c.14866-30C>T (n.14866-30C>T) c.14782-30C>T (n.14782-30C>T) | gnomAD v4 |
| 19 | g.38586062_38586072del | CA2582145960 | RYR1 | c.1805-29_1805-19del c.3202-29_3202-19del c.3174-29_3174-19del n.262-29_262-19del c.14869-29_14869-19del (n.14869-29_14869-19del) c.14854-29_14854-19del (n.14854-29_14854-19del) c.14851-29_14851-19del (n.14851-29_14851-19del) c.14836-29_14836-19del (n.14836-29_14836-19del) c.14866-29_14866-19del (n.14866-29_14866-19del) c.14782-29_14782-19del (n.14782-29_14782-19del) | gnomAD v4 |
| 19 | g.38586063C>T | CA081357 | RYR1 | c.1805-28C>T c.3202-28C>T c.3174-28C>T n.262-28C>T c.14869-28C>T (n.14869-28C>T) c.14854-28C>T (n.14854-28C>T) c.14851-28C>T (n.14851-28C>T) c.14836-28C>T (n.14836-28C>T) c.14866-28C>T (n.14866-28C>T) c.14782-28C>T (n.14782-28C>T) | |
| 19 | g.38586064C>G | CA2814346614 | RYR1 | c.1805-27C>G c.3202-27C>G c.3174-27C>G n.262-27C>G c.14869-27C>G (n.14869-27C>G) c.14854-27C>G (n.14854-27C>G) c.14851-27C>G (n.14851-27C>G) c.14836-27C>G (n.14836-27C>G) c.14866-27C>G (n.14866-27C>G) c.14782-27C>G (n.14782-27C>G) | |
| 19 | g.38586066C>T | CA2584911429 | RYR1 | c.1805-25C>T c.3202-25C>T c.3174-25C>T n.262-25C>T c.14869-25C>T (n.14869-25C>T) c.14854-25C>T (n.14854-25C>T) c.14851-25C>T (n.14851-25C>T) c.14836-25C>T (n.14836-25C>T) c.14866-25C>T (n.14866-25C>T) c.14782-25C>T (n.14782-25C>T) | gnomAD v4 |
| 19 | g.38586068C>A | CA308126567 | RYR1 | c.1805-23C>A c.3202-23C>A c.3174-23C>A n.262-23C>A c.14869-23C>A (n.14869-23C>A) c.14854-23C>A (n.14854-23C>A) c.14851-23C>A (n.14851-23C>A) c.14836-23C>A (n.14836-23C>A) c.14866-23C>A (n.14866-23C>A) c.14782-23C>A (n.14782-23C>A) | dbSNP |
| 19 | g.38586068C= | CA2335095539 | RYR1 | c.1805-23C= c.3202-23C= c.3174-23C= n.262-23C= c.14869-23C= (n.14869-23C=) c.14854-23C= (n.14854-23C=) c.14851-23C= (n.14851-23C=) c.14836-23C= (n.14836-23C=) c.14866-23C= (n.14866-23C=) c.14782-23C= (n.14782-23C=) | |
| 19 | g.38586071_38586073dup | CA632878110 | RYR1 | c.1805-20_1805-18dup c.3202-20_3202-18dup c.3174-20_3174-18dup n.262-20_262-18dup c.14869-20_14869-18dup (n.14869-20_14869-18dup) c.14854-20_14854-18dup (n.14854-20_14854-18dup) c.14851-20_14851-18dup (n.14851-20_14851-18dup) c.14836-20_14836-18dup (n.14836-20_14836-18dup) c.14866-20_14866-18dup (n.14866-20_14866-18dup) c.14782-20_14782-18dup (n.14782-20_14782-18dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38586070G>A | CA2584911430 | RYR1 | c.1805-21G>A c.3202-21G>A c.3174-21G>A n.262-21G>A c.14869-21G>A (n.14869-21G>A) c.14854-21G>A (n.14854-21G>A) c.14851-21G>A (n.14851-21G>A) c.14836-21G>A (n.14836-21G>A) c.14866-21G>A (n.14866-21G>A) c.14782-21G>A (n.14782-21G>A) | gnomAD v4 |
| 19 | g.38586070G>T | CA657145064 | RYR1 | c.1805-21G>T c.3202-21G>T c.3174-21G>T n.262-21G>T c.14869-21G>T (n.14869-21G>T) c.14854-21G>T (n.14854-21G>T) c.14851-21G>T (n.14851-21G>T) c.14836-21G>T (n.14836-21G>T) c.14866-21G>T (n.14866-21G>T) c.14782-21G>T (n.14782-21G>T) | COSMIC |
| 19 | g.38586073G>A | CA632878111 | RYR1 | c.1805-18G>A c.3202-18G>A c.3174-18G>A n.262-18G>A c.14869-18G>A (n.14869-18G>A) c.14854-18G>A (n.14854-18G>A) c.14851-18G>A (n.14851-18G>A) c.14836-18G>A (n.14836-18G>A) c.14866-18G>A (n.14866-18G>A) c.14782-18G>A (n.14782-18G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38586073G= | CA2335095540 | RYR1 | c.1805-18G= c.3202-18G= c.3174-18G= n.262-18G= c.14869-18G= (n.14869-18G=) c.14854-18G= (n.14854-18G=) c.14851-18G= (n.14851-18G=) c.14836-18G= (n.14836-18G=) c.14866-18G= (n.14866-18G=) c.14782-18G= (n.14782-18G=) | |
| 19 | g.38586074T>C | CA2584911431 | RYR1 | c.1805-17T>C c.3202-17T>C c.3174-17T>C n.262-17T>C c.14869-17T>C (n.14869-17T>C) c.14854-17T>C (n.14854-17T>C) c.14851-17T>C (n.14851-17T>C) c.14836-17T>C (n.14836-17T>C) c.14866-17T>C (n.14866-17T>C) c.14782-17T>C (n.14782-17T>C) | gnomAD v4 |
| 19 | g.38586074T>G | CA2584911432 | RYR1 | c.1805-17T>G c.3202-17T>G c.3174-17T>G n.262-17T>G c.14869-17T>G (n.14869-17T>G) c.14854-17T>G (n.14854-17T>G) c.14851-17T>G (n.14851-17T>G) c.14836-17T>G (n.14836-17T>G) c.14866-17T>G (n.14866-17T>G) c.14782-17T>G (n.14782-17T>G) | gnomAD v4 |
| 19 | g.38586075C>T | CA2580097260 | RYR1 | c.1805-16C>T c.3202-16C>T c.3174-16C>T n.262-16C>T c.14869-16C>T (n.14869-16C>T) c.14854-16C>T (n.14854-16C>T) c.14851-16C>T (n.14851-16C>T) c.14836-16C>T (n.14836-16C>T) c.14866-16C>T (n.14866-16C>T) c.14782-16C>T (n.14782-16C>T) | ClinVar gnomAD v4 |
| 19 | g.38586076T>C | CA2584911433 | RYR1 | c.1805-15T>C c.3202-15T>C c.3174-15T>C n.262-15T>C c.14869-15T>C (n.14869-15T>C) c.14854-15T>C (n.14854-15T>C) c.14851-15T>C (n.14851-15T>C) c.14836-15T>C (n.14836-15T>C) c.14866-15T>C (n.14866-15T>C) c.14782-15T>C (n.14782-15T>C) | gnomAD v4 |
| 19 | g.38586077C= | CA2335095541 | RYR1 | c.1805-14C= c.3202-14C= c.3174-14C= n.262-14C= c.14869-14C= (n.14869-14C=) c.14854-14C= (n.14854-14C=) c.14851-14C= (n.14851-14C=) c.14836-14C= (n.14836-14C=) c.14866-14C= (n.14866-14C=) c.14782-14C= (n.14782-14C=) | |
| 19 | g.38586077C>G | CA061753 | RYR1 | c.1805-14C>G c.3202-14C>G c.3174-14C>G n.262-14C>G c.14869-14C>G (n.14869-14C>G) c.14854-14C>G (n.14854-14C>G) c.14851-14C>G (n.14851-14C>G) c.14836-14C>G (n.14836-14C>G) c.14866-14C>G (n.14866-14C>G) c.14782-14C>G (n.14782-14C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38586078T>C | CA2814346615 | RYR1 | c.1805-13T>C c.3202-13T>C c.3174-13T>C n.262-13T>C c.14869-13T>C (n.14869-13T>C) c.14854-13T>C (n.14854-13T>C) c.14851-13T>C (n.14851-13T>C) c.14836-13T>C (n.14836-13T>C) c.14866-13T>C (n.14866-13T>C) c.14782-13T>C (n.14782-13T>C) | |
| 19 | g.38586080G>A | CA2584911434 | RYR1 | c.1805-11G>A c.3202-11G>A c.3174-11G>A n.262-11G>A c.14869-11G>A (n.14869-11G>A) c.14854-11G>A (n.14854-11G>A) c.14851-11G>A (n.14851-11G>A) c.14836-11G>A (n.14836-11G>A) c.14866-11G>A (n.14866-11G>A) c.14782-11G>A (n.14782-11G>A) | gnomAD v4 |
| 19 | g.38586080G>C | CA2335095543 | RYR1 | c.1805-11G>C c.3202-11G>C c.3174-11G>C n.262-11G>C c.14869-11G>C (n.14869-11G>C) c.14854-11G>C (n.14854-11G>C) c.14851-11G>C (n.14851-11G>C) c.14836-11G>C (n.14836-11G>C) c.14866-11G>C (n.14866-11G>C) c.14782-11G>C (n.14782-11G>C) | dbSNP |
| 19 | g.38586080G= | CA2335095542 | RYR1 | c.1805-11G= c.3202-11G= c.3174-11G= n.262-11G= c.14869-11G= (n.14869-11G=) c.14854-11G= (n.14854-11G=) c.14851-11G= (n.14851-11G=) c.14836-11G= (n.14836-11G=) c.14866-11G= (n.14866-11G=) c.14782-11G= (n.14782-11G=) | |
| 19 | g.38586080G>T | CA2576827588 | RYR1 | c.1805-11G>T c.3202-11G>T c.3174-11G>T n.262-11G>T c.14869-11G>T (n.14869-11G>T) c.14854-11G>T (n.14854-11G>T) c.14851-11G>T (n.14851-11G>T) c.14836-11G>T (n.14836-11G>T) c.14866-11G>T (n.14866-11G>T) c.14782-11G>T (n.14782-11G>T) | |
| 19 | g.38586081C>A | CA2335095545 | RYR1 | c.1805-10C>A c.3202-10C>A c.3174-10C>A n.262-10C>A c.14869-10C>A (n.14869-10C>A) c.14854-10C>A (n.14854-10C>A) c.14851-10C>A (n.14851-10C>A) c.14836-10C>A (n.14836-10C>A) c.14866-10C>A (n.14866-10C>A) c.14782-10C>A (n.14782-10C>A) | dbSNP |
| 19 | g.38586081C= | CA2335095544 | RYR1 | c.1805-10C= c.3202-10C= c.3174-10C= n.262-10C= c.14869-10C= (n.14869-10C=) c.14854-10C= (n.14854-10C=) c.14851-10C= (n.14851-10C=) c.14836-10C= (n.14836-10C=) c.14866-10C= (n.14866-10C=) c.14782-10C= (n.14782-10C=) | |
| 19 | g.38586081C>T | CA061751 | RYR1 | c.1805-10C>T c.3202-10C>T c.3174-10C>T n.262-10C>T c.14869-10C>T (n.14869-10C>T) c.14854-10C>T (n.14854-10C>T) c.14851-10C>T (n.14851-10C>T) c.14836-10C>T (n.14836-10C>T) c.14866-10C>T (n.14866-10C>T) c.14782-10C>T (n.14782-10C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38586082C= | CA2335095546 | RYR1 | c.1805-9C= c.3202-9C= c.3174-9C= n.262-9C= c.14869-9C= (n.14869-9C=) c.14854-9C= (n.14854-9C=) c.14851-9C= (n.14851-9C=) c.14836-9C= (n.14836-9C=) c.14866-9C= (n.14866-9C=) c.14782-9C= (n.14782-9C=) | |
| 19 | g.38586082C>T | CA308126578 | RYR1 | c.1805-9C>T c.3202-9C>T c.3174-9C>T n.262-9C>T c.14869-9C>T (n.14869-9C>T) c.14854-9C>T (n.14854-9C>T) c.14851-9C>T (n.14851-9C>T) c.14836-9C>T (n.14836-9C>T) c.14866-9C>T (n.14866-9C>T) c.14782-9C>T (n.14782-9C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38586083A= | CA2335095547 | RYR1 | c.1805-8A= c.3202-8A= c.3174-8A= n.262-8A= c.14869-8A= (n.14869-8A=) c.14854-8A= (n.14854-8A=) c.14851-8A= (n.14851-8A=) c.14836-8A= (n.14836-8A=) c.14866-8A= (n.14866-8A=) c.14782-8A= (n.14782-8A=) | |
| 19 | g.38586083A>T | CA308126597 | RYR1 | c.1805-8A>T c.3202-8A>T c.3174-8A>T n.262-8A>T c.14869-8A>T (n.14869-8A>T) c.14854-8A>T (n.14854-8A>T) c.14851-8A>T (n.14851-8A>T) c.14836-8A>T (n.14836-8A>T) c.14866-8A>T (n.14866-8A>T) c.14782-8A>T (n.14782-8A>T) | ClinVar dbSNP |
| 19 | g.38586084C>T | CA081355 | RYR1 | c.1805-7C>T c.3202-7C>T c.3174-7C>T n.262-7C>T c.14869-7C>T (n.14869-7C>T) c.14854-7C>T (n.14854-7C>T) c.14851-7C>T (n.14851-7C>T) c.14836-7C>T (n.14836-7C>T) c.14866-7C>T (n.14866-7C>T) c.14782-7C>T (n.14782-7C>T) | |
| 19 | g.38586085T>C | CA2584911435 | RYR1 | c.1805-6T>C c.3202-6T>C c.3174-6T>C n.262-6T>C c.14869-6T>C (n.14869-6T>C) c.14854-6T>C (n.14854-6T>C) c.14851-6T>C (n.14851-6T>C) c.14836-6T>C (n.14836-6T>C) c.14866-6T>C (n.14866-6T>C) c.14782-6T>C (n.14782-6T>C) | gnomAD v4 |
| 19 | g.38586085T>G | CA2814346616 | RYR1 | c.1805-6T>G c.3202-6T>G c.3174-6T>G n.262-6T>G c.14869-6T>G (n.14869-6T>G) c.14854-6T>G (n.14854-6T>G) c.14851-6T>G (n.14851-6T>G) c.14836-6T>G (n.14836-6T>G) c.14866-6T>G (n.14866-6T>G) c.14782-6T>G (n.14782-6T>G) | |
| 19 | g.38586086C= | CA2335095548 | RYR1 | c.1805-5C= c.3202-5C= c.3174-5C= n.262-5C= c.14869-5C= (n.14869-5C=) c.14854-5C= (n.14854-5C=) c.14851-5C= (n.14851-5C=) c.14836-5C= (n.14836-5C=) c.14866-5C= (n.14866-5C=) c.14782-5C= (n.14782-5C=) | |
| 19 | g.38586086C>G | CA891844342 | RYR1 | c.1805-5C>G c.3202-5C>G c.3174-5C>G n.262-5C>G c.14869-5C>G (n.14869-5C>G) c.14854-5C>G (n.14854-5C>G) c.14851-5C>G (n.14851-5C>G) c.14836-5C>G (n.14836-5C>G) c.14866-5C>G (n.14866-5C>G) c.14782-5C>G (n.14782-5C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38586086C>T | CA632878113 | RYR1 | c.1805-5C>T c.3202-5C>T c.3174-5C>T n.262-5C>T c.14869-5C>T (n.14869-5C>T) c.14854-5C>T (n.14854-5C>T) c.14851-5C>T (n.14851-5C>T) c.14836-5C>T (n.14836-5C>T) c.14866-5C>T (n.14866-5C>T) c.14782-5C>T (n.14782-5C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38586087A>C | CA2584911436 | RYR1 | c.1805-4A>C c.3202-4A>C c.3174-4A>C n.262-4A>C c.14869-4A>C (n.14869-4A>C) c.14854-4A>C (n.14854-4A>C) c.14851-4A>C (n.14851-4A>C) c.14836-4A>C (n.14836-4A>C) c.14866-4A>C (n.14866-4A>C) c.14782-4A>C (n.14782-4A>C) | gnomAD v4 |
| 19 | g.38586087A>G | CA2580097261 | RYR1 | c.1805-4A>G c.3202-4A>G c.3174-4A>G n.262-4A>G c.14869-4A>G (n.14869-4A>G) c.14854-4A>G (n.14854-4A>G) c.14851-4A>G (n.14851-4A>G) c.14836-4A>G (n.14836-4A>G) c.14866-4A>G (n.14866-4A>G) c.14782-4A>G (n.14782-4A>G) | ClinVar gnomAD v4 |
| 19 | g.38586088C= | CA2335095549 | RYR1 | c.1805-3C= c.3202-3C= c.3174-3C= n.262-3C= c.14869-3C= (n.14869-3C=) c.14854-3C= (n.14854-3C=) c.14851-3C= (n.14851-3C=) c.14836-3C= (n.14836-3C=) c.14866-3C= (n.14866-3C=) c.14782-3C= (n.14782-3C=) | |
| 19 | g.38586088C>G | CA308126609 | RYR1 | c.1805-3C>G c.3202-3C>G c.3174-3C>G n.262-3C>G c.14869-3C>G (n.14869-3C>G) c.14854-3C>G (n.14854-3C>G) c.14851-3C>G (n.14851-3C>G) c.14836-3C>G (n.14836-3C>G) c.14866-3C>G (n.14866-3C>G) c.14782-3C>G (n.14782-3C>G) | dbSNP |
| 19 | g.38586088C>T | CA2576827589 | RYR1 | c.1805-3C>T c.3202-3C>T c.3174-3C>T n.262-3C>T c.14869-3C>T (n.14869-3C>T) c.14854-3C>T (n.14854-3C>T) c.14851-3C>T (n.14851-3C>T) c.14836-3C>T (n.14836-3C>T) c.14866-3C>T (n.14866-3C>T) c.14782-3C>T (n.14782-3C>T) | |
| 19 | g.38586089A>C | CA405692590 | RYR1 | c.1805-2A>C c.3202-2A>C c.3174-2A>C n.262-2A>C c.14869-2A>C (n.14869-2A>C) c.14854-2A>C (n.14854-2A>C) c.14851-2A>C (n.14851-2A>C) c.14836-2A>C (n.14836-2A>C) c.14866-2A>C (n.14866-2A>C) c.14782-2A>C (n.14782-2A>C) | |
| 19 | g.38586089A>G | CA405692588 | RYR1 | c.1805-2A>G c.3202-2A>G c.3174-2A>G n.262-2A>G c.14869-2A>G (n.14869-2A>G) c.14854-2A>G (n.14854-2A>G) c.14851-2A>G (n.14851-2A>G) c.14836-2A>G (n.14836-2A>G) c.14866-2A>G (n.14866-2A>G) c.14782-2A>G (n.14782-2A>G) | ClinVar |
| 19 | g.38586089A>T | CA405692587 | RYR1 | c.1805-2A>T c.3202-2A>T c.3174-2A>T n.262-2A>T c.14869-2A>T (n.14869-2A>T) c.14854-2A>T (n.14854-2A>T) c.14851-2A>T (n.14851-2A>T) c.14836-2A>T (n.14836-2A>T) c.14866-2A>T (n.14866-2A>T) c.14782-2A>T (n.14782-2A>T) | |
| 19 | g.38586090G>A | CA405692592 | RYR1 | c.1805-1G>A c.3202-1G>A c.3174-1G>A n.262-1G>A c.14869-1G>A (n.14869-1G>A) c.14854-1G>A (n.14854-1G>A) c.14851-1G>A (n.14851-1G>A) c.14836-1G>A (n.14836-1G>A) c.14866-1G>A (n.14866-1G>A) c.14782-1G>A (n.14782-1G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38586090G>C | CA024270 | RYR1 | c.1805-1G>C c.3202-1G>C c.3174-1G>C n.262-1G>C c.14869-1G>C (n.14869-1G>C) c.14854-1G>C (n.14854-1G>C) c.14851-1G>C (n.14851-1G>C) c.14836-1G>C (n.14836-1G>C) c.14866-1G>C (n.14866-1G>C) c.14782-1G>C (n.14782-1G>C) | ClinVar dbSNP |
| 19 | g.38586090G= | CA2335095550 | RYR1 | c.1805-1G= c.3202-1G= c.3174-1G= n.262-1G= c.14869-1G= (n.14869-1G=) c.14854-1G= (n.14854-1G=) c.14851-1G= (n.14851-1G=) c.14836-1G= (n.14836-1G=) c.14866-1G= (n.14866-1G=) c.14782-1G= (n.14782-1G=) | |
| 19 | g.38586090G>T | CA405692595 | RYR1 | c.1805-1G>T c.3202-1G>T c.3174-1G>T n.262-1G>T c.14869-1G>T (n.14869-1G>T) c.14854-1G>T (n.14854-1G>T) c.14851-1G>T (n.14851-1G>T) c.14836-1G>T (n.14836-1G>T) c.14866-1G>T (n.14866-1G>T) c.14782-1G>T (n.14782-1G>T) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38586091A>C | CA405692597 | RYR1 | c.1805A>C c.3202A>C c.3174A>C n.262A>C c.14869A>C (p.Thr4957Pro) c.14854A>C (p.Thr4952Pro) c.14851A>C (p.Thr4951Pro) c.14836A>C (p.Thr4946Pro) c.14866A>C (p.Thr4956Pro) c.14782A>C (p.Thr4928Pro) | |
| 19 | g.38586091A>G | CA405692599 | RYR1 | c.1805A>G c.3202A>G c.3174A>G n.262A>G c.14869A>G (p.Thr4957Ala) c.14854A>G (p.Thr4952Ala) c.14851A>G (p.Thr4951Ala) c.14836A>G (p.Thr4946Ala) c.14866A>G (p.Thr4956Ala) c.14782A>G (p.Thr4928Ala) | |
| 19 | g.38586091A>T | CA405692602 | RYR1 | c.1805A>T c.3202A>T c.3174A>T n.262A>T c.14869A>T (p.Thr4957Ser) c.14854A>T (p.Thr4952Ser) c.14851A>T (p.Thr4951Ser) c.14836A>T (p.Thr4946Ser) c.14866A>T (p.Thr4956Ser) c.14782A>T (p.Thr4928Ser) | |
| 19 | g.38586092C>A | CA405692605 | RYR1 | c.1806C>A c.3203C>A c.3175C>A n.263C>A c.14870C>A (p.Thr4957Asn) c.14855C>A (p.Thr4952Asn) c.14852C>A (p.Thr4951Asn) c.14837C>A (p.Thr4946Asn) c.14867C>A (p.Thr4956Asn) c.14783C>A (p.Thr4928Asn) | |
| 19 | g.38586092C>G | CA405692607 | RYR1 | c.1806C>G c.3203C>G c.3175C>G n.263C>G c.14870C>G (p.Thr4957Ser) c.14855C>G (p.Thr4952Ser) c.14852C>G (p.Thr4951Ser) c.14837C>G (p.Thr4946Ser) c.14867C>G (p.Thr4956Ser) c.14783C>G (p.Thr4928Ser) | |
| 19 | g.38586092C>T | CA405692608 | RYR1 | c.1806C>T c.3203C>T c.3175C>T n.263C>T c.14870C>T (p.Thr4957Ile) c.14855C>T (p.Thr4952Ile) c.14852C>T (p.Thr4951Ile) c.14837C>T (p.Thr4946Ile) c.14867C>T (p.Thr4956Ile) c.14783C>T (p.Thr4928Ile) | |
| 19 | g.38586093C>A | CA507246608 | RYR1 | c.1807C>A c.3204C>A c.3176C>A n.264C>A c.14871C>A (p.Thr4957=) c.14856C>A (p.Thr4952=) c.14853C>A (p.Thr4951=) c.14838C>A (p.Thr4946=) c.14868C>A (p.Thr4956=) c.14784C>A (p.Thr4928=) | |
| 19 | g.38586093C>G | CA507246609 | RYR1 | c.1807C>G c.3204C>G c.3176C>G n.264C>G c.14871C>G (p.Thr4957=) c.14856C>G (p.Thr4952=) c.14853C>G (p.Thr4951=) c.14838C>G (p.Thr4946=) c.14868C>G (p.Thr4956=) c.14784C>G (p.Thr4928=) | gnomAD v4 |
| 19 | g.38586093C>T | CA507246610 | RYR1 | c.1807C>T c.3204C>T c.3176C>T n.264C>T c.14871C>T (p.Thr4957=) c.14856C>T (p.Thr4952=) c.14853C>T (p.Thr4951=) c.14838C>T (p.Thr4946=) c.14868C>T (p.Thr4956=) c.14784C>T (p.Thr4928=) | |
| 19 | g.38586094A>C | CA405692609 | RYR1 | c.1808A>C c.3205A>C c.3177A>C n.265A>C c.14872A>C (p.Lys4958Gln) c.14857A>C (p.Lys4953Gln) c.14854A>C (p.Lys4952Gln) c.14839A>C (p.Lys4947Gln) c.14869A>C (p.Lys4957Gln) c.14785A>C (p.Lys4929Gln) | |
| 19 | g.38586094A>G | CA405692612 | RYR1 | c.1808A>G c.3205A>G c.3177A>G n.265A>G c.14872A>G (p.Lys4958Glu) c.14857A>G (p.Lys4953Glu) c.14854A>G (p.Lys4952Glu) c.14839A>G (p.Lys4947Glu) c.14869A>G (p.Lys4957Glu) c.14785A>G (p.Lys4929Glu) | |
| 19 | g.38586094A>T | CA405692613 | RYR1 | c.1808A>T c.3205A>T c.3177A>T n.265A>T c.14872A>T (p.Lys4958Ter) c.14857A>T (p.Lys4953Ter) c.14854A>T (p.Lys4952Ter) c.14839A>T (p.Lys4947Ter) c.14869A>T (p.Lys4957Ter) c.14785A>T (p.Lys4929Ter) | |
| 19 | g.38586095A>C | CA405692616 | RYR1 | c.1809A>C c.3206A>C c.3178A>C n.266A>C c.14873A>C (p.Lys4958Thr) c.14858A>C (p.Lys4953Thr) c.14855A>C (p.Lys4952Thr) c.14840A>C (p.Lys4947Thr) c.14870A>C (p.Lys4957Thr) c.14786A>C (p.Lys4929Thr) | |
| 19 | g.38586095A>G | CA405692615 | RYR1 | c.1809A>G c.3206A>G c.3178A>G n.266A>G c.14873A>G (p.Lys4958Arg) c.14858A>G (p.Lys4953Arg) c.14855A>G (p.Lys4952Arg) c.14840A>G (p.Lys4947Arg) c.14870A>G (p.Lys4957Arg) c.14786A>G (p.Lys4929Arg) | |
| 19 | g.38586095A>T | CA405692614 | RYR1 | c.1809A>T c.3206A>T c.3178A>T n.266A>T c.14873A>T (p.Lys4958Met) c.14858A>T (p.Lys4953Met) c.14855A>T (p.Lys4952Met) c.14840A>T (p.Lys4947Met) c.14870A>T (p.Lys4957Met) c.14786A>T (p.Lys4929Met) | |
| 19 | g.38586096G>A | CA507246611 | RYR1 | c.1810G>A c.3207G>A c.3179G>A n.267G>A c.14874G>A (p.Lys4958=) c.14859G>A (p.Lys4953=) c.14856G>A (p.Lys4952=) c.14841G>A (p.Lys4947=) c.14871G>A (p.Lys4957=) c.14787G>A (p.Lys4929=) | gnomAD v4 |
| 19 | g.38586096G>C | CA405692617 | RYR1 | c.1810G>C c.3207G>C c.3179G>C n.267G>C c.14874G>C (p.Lys4958Asn) c.14859G>C (p.Lys4953Asn) c.14856G>C (p.Lys4952Asn) c.14841G>C (p.Lys4947Asn) c.14871G>C (p.Lys4957Asn) c.14787G>C (p.Lys4929Asn) | dbSNP |
| 19 | g.38586096G= | CA2335095551 | RYR1 | c.1810G= c.3207G= c.3179G= n.267G= c.14874G= (p.Lys4958=) c.14859G= (p.Lys4953=) c.14856G= (p.Lys4952=) c.14841G= (p.Lys4947=) c.14871G= (p.Lys4957=) c.14787G= (p.Lys4929=) | |
| 19 | g.38586096G>T | CA405692619 | RYR1 | c.1810G>T c.3207G>T c.3179G>T n.267G>T c.14874G>T (p.Lys4958Asn) c.14859G>T (p.Lys4953Asn) c.14856G>T (p.Lys4952Asn) c.14841G>T (p.Lys4947Asn) c.14871G>T (p.Lys4957Asn) c.14787G>T (p.Lys4929Asn) | |
| 19 | g.38586097T>A | CA405692621 | RYR1 | c.1811T>A c.3208T>A c.3180T>A n.268T>A c.14875T>A (p.Cys4959Ser) c.14860T>A (p.Cys4954Ser) c.14857T>A (p.Cys4953Ser) c.14842T>A (p.Cys4948Ser) c.14872T>A (p.Cys4958Ser) c.14788T>A (p.Cys4930Ser) | |
| 19 | g.38586097T>C | CA405692622 | RYR1 | c.1811T>C c.3208T>C c.3180T>C n.268T>C c.14875T>C (p.Cys4959Arg) c.14860T>C (p.Cys4954Arg) c.14857T>C (p.Cys4953Arg) c.14842T>C (p.Cys4948Arg) c.14872T>C (p.Cys4958Arg) c.14788T>C (p.Cys4930Arg) | |
| 19 | g.38586097T>G | CA405692629 | RYR1 | c.1811T>G c.3208T>G c.3180T>G n.268T>G c.14875T>G (p.Cys4959Gly) c.14860T>G (p.Cys4954Gly) c.14857T>G (p.Cys4953Gly) c.14842T>G (p.Cys4948Gly) c.14872T>G (p.Cys4958Gly) c.14788T>G (p.Cys4930Gly) | |
| 19 | g.38586097T= | CA2335095552 | RYR1 | c.1811T= c.3208T= c.3180T= n.268T= c.14875T= (p.Cys4959=) c.14860T= (p.Cys4954=) c.14857T= (p.Cys4953=) c.14842T= (p.Cys4948=) c.14872T= (p.Cys4958=) c.14788T= (p.Cys4930=) | |
| 19 | g.38586098G>A | CA405692631 | RYR1 | c.1812G>A c.3209G>A c.3181G>A n.269G>A c.14876G>A (p.Cys4959Tyr) c.14861G>A (p.Cys4954Tyr) c.14858G>A (p.Cys4953Tyr) c.14843G>A (p.Cys4948Tyr) c.14873G>A (p.Cys4958Tyr) c.14789G>A (p.Cys4930Tyr) | |
| 19 | g.38586098G>C | CA405692634 | RYR1 | c.1812G>C c.3209G>C c.3181G>C n.269G>C c.14876G>C (p.Cys4959Ser) c.14861G>C (p.Cys4954Ser) c.14858G>C (p.Cys4953Ser) c.14843G>C (p.Cys4948Ser) c.14873G>C (p.Cys4958Ser) c.14789G>C (p.Cys4930Ser) | |
| 19 | g.38586098G= | CA2335095553 | RYR1 | c.1812G= c.3209G= c.3181G= n.269G= c.14876G= (p.Cys4959=) c.14861G= (p.Cys4954=) c.14858G= (p.Cys4953=) c.14843G= (p.Cys4948=) c.14873G= (p.Cys4958=) c.14789G= (p.Cys4930=) | |
| 19 | g.38586098G>T | CA081352 | RYR1 | c.1812G>T c.3209G>T c.3181G>T n.269G>T c.14876G>T (p.Cys4959Phe) c.14861G>T (p.Cys4954Phe) c.14858G>T (p.Cys4953Phe) c.14843G>T (p.Cys4948Phe) c.14873G>T (p.Cys4958Phe) c.14789G>T (p.Cys4930Phe) | dbSNP |
| 19 | g.38586100_38586117dup | CA632878114 | RYR1 | c.1814_1831dup c.3211_3228dup c.3183_3200dup n.271_288dup c.14878_14895dup (p.Gly4965_Ser4966insPheIleCysGlyIleGly) c.14863_14880dup (p.Gly4960_Ser4961insPheIleCysGlyIleGly) c.14860_14877dup (p.Gly4959_Ser4960insPheIleCysGlyIleGly) c.14845_14862dup (p.Gly4954_Ser4955insPheIleCysGlyIleGly) c.14875_14892dup (p.Gly4964_Ser4965insPheIleCysGlyIleGly) c.14791_14808dup (p.Gly4936_Ser4937insPheIleCysGlyIleGly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38586099C>A | CA405692638 | RYR1 | c.1813C>A c.3210C>A c.3182C>A n.270C>A c.14877C>A (p.Cys4959Ter) c.14862C>A (p.Cys4954Ter) c.14859C>A (p.Cys4953Ter) c.14844C>A (p.Cys4948Ter) c.14874C>A (p.Cys4958Ter) c.14790C>A (p.Cys4930Ter) | |
| 19 | g.38586099C>G | CA405692639 | RYR1 | c.1813C>G c.3210C>G c.3182C>G n.270C>G c.14877C>G (p.Cys4959Trp) c.14862C>G (p.Cys4954Trp) c.14859C>G (p.Cys4953Trp) c.14844C>G (p.Cys4948Trp) c.14874C>G (p.Cys4958Trp) c.14790C>G (p.Cys4930Trp) | |
| 19 | g.38586099C>T | CA507246612 | RYR1 | c.1813C>T c.3210C>T c.3182C>T n.270C>T c.14877C>T (p.Cys4959=) c.14862C>T (p.Cys4954=) c.14859C>T (p.Cys4953=) c.14844C>T (p.Cys4948=) c.14874C>T (p.Cys4958=) c.14790C>T (p.Cys4930=) | |
| 19 | g.38586100T>A | CA405692641 | RYR1 | c.1814T>A c.3211T>A c.3183T>A n.271T>A c.14878T>A (p.Phe4960Ile) c.14863T>A (p.Phe4955Ile) c.14860T>A (p.Phe4954Ile) c.14845T>A (p.Phe4949Ile) c.14875T>A (p.Phe4959Ile) c.14791T>A (p.Phe4931Ile) | |
| 19 | g.38586100T>C | CA405692645 | RYR1 | c.1814T>C c.3211T>C c.3183T>C n.271T>C c.14878T>C (p.Phe4960Leu) c.14863T>C (p.Phe4955Leu) c.14860T>C (p.Phe4954Leu) c.14845T>C (p.Phe4949Leu) c.14875T>C (p.Phe4959Leu) c.14791T>C (p.Phe4931Leu) | |
| 19 | g.38586100T>G | CA405692646 | RYR1 | c.1814T>G c.3211T>G c.3183T>G n.271T>G c.14878T>G (p.Phe4960Val) c.14863T>G (p.Phe4955Val) c.14860T>G (p.Phe4954Val) c.14845T>G (p.Phe4949Val) c.14875T>G (p.Phe4959Val) c.14791T>G (p.Phe4931Val) | |
| 19 | g.38586101T>A | CA024272 | RYR1 | c.1815T>A c.3212T>A c.3184T>A n.272T>A c.14879T>A (p.Phe4960Tyr) c.14864T>A (p.Phe4955Tyr) c.14861T>A (p.Phe4954Tyr) c.14846T>A (p.Phe4949Tyr) c.14876T>A (p.Phe4959Tyr) c.14792T>A (p.Phe4931Tyr) | ClinVar dbSNP |
| 19 | g.38586101T>C | CA405692649 | RYR1 | c.1815T>C c.3212T>C c.3184T>C n.272T>C c.14879T>C (p.Phe4960Ser) c.14864T>C (p.Phe4955Ser) c.14861T>C (p.Phe4954Ser) c.14846T>C (p.Phe4949Ser) c.14876T>C (p.Phe4959Ser) c.14792T>C (p.Phe4931Ser) | |
| 19 | g.38586101T>G | CA081354 | RYR1 | c.1815T>G c.3212T>G c.3184T>G n.272T>G c.14879T>G (p.Phe4960Cys) c.14864T>G (p.Phe4955Cys) c.14861T>G (p.Phe4954Cys) c.14846T>G (p.Phe4949Cys) c.14876T>G (p.Phe4959Cys) c.14792T>G (p.Phe4931Cys) | dbSNP ExAC gnomAD v2 |
| 19 | g.38586101T= | CA2335095554 | RYR1 | c.1815T= c.3212T= c.3184T= n.272T= c.14879T= (p.Phe4960=) c.14864T= (p.Phe4955=) c.14861T= (p.Phe4954=) c.14846T= (p.Phe4949=) c.14876T= (p.Phe4959=) c.14792T= (p.Phe4931=) | |
| 19 | g.38586102C>A | CA405692660 | RYR1 | c.1816C>A c.3213C>A c.3185C>A n.273C>A c.14880C>A (p.Phe4960Leu) c.14865C>A (p.Phe4955Leu) c.14862C>A (p.Phe4954Leu) c.14847C>A (p.Phe4949Leu) c.14877C>A (p.Phe4959Leu) c.14793C>A (p.Phe4931Leu) | |
| 19 | g.38586102C>G | CA405692662 | RYR1 | c.1816C>G c.3213C>G c.3185C>G n.273C>G c.14880C>G (p.Phe4960Leu) c.14865C>G (p.Phe4955Leu) c.14862C>G (p.Phe4954Leu) c.14847C>G (p.Phe4949Leu) c.14877C>G (p.Phe4959Leu) c.14793C>G (p.Phe4931Leu) | |
| 19 | g.38586102C>T | CA507246613 | RYR1 | c.1816C>T c.3213C>T c.3185C>T n.273C>T c.14880C>T (p.Phe4960=) c.14865C>T (p.Phe4955=) c.14862C>T (p.Phe4954=) c.14847C>T (p.Phe4949=) c.14877C>T (p.Phe4959=) c.14793C>T (p.Phe4931=) | |
| 19 | g.38586103A>C | CA405692664 | RYR1 | c.1817A>C c.3214A>C c.3186A>C n.274A>C c.14881A>C (p.Ile4961Leu) c.14866A>C (p.Ile4956Leu) c.14863A>C (p.Ile4955Leu) c.14848A>C (p.Ile4950Leu) c.14878A>C (p.Ile4960Leu) c.14794A>C (p.Ile4932Leu) | |
| 19 | g.38586103A>G | CA405692667 | RYR1 | c.1817A>G c.3214A>G c.3186A>G n.274A>G c.14881A>G (p.Ile4961Val) c.14866A>G (p.Ile4956Val) c.14863A>G (p.Ile4955Val) c.14848A>G (p.Ile4950Val) c.14878A>G (p.Ile4960Val) c.14794A>G (p.Ile4932Val) | gnomAD v4 |
| 19 | g.38586103A>T | CA405692668 | RYR1 | c.1817A>T c.3214A>T c.3186A>T n.274A>T c.14881A>T (p.Ile4961Phe) c.14866A>T (p.Ile4956Phe) c.14863A>T (p.Ile4955Phe) c.14848A>T (p.Ile4950Phe) c.14878A>T (p.Ile4960Phe) c.14794A>T (p.Ile4932Phe) | |
| 19 | g.38586104T>A | CA405692669 | RYR1 | c.1818T>A c.3215T>A c.3187T>A n.275T>A c.14882T>A (p.Ile4961Asn) c.14867T>A (p.Ile4956Asn) c.14864T>A (p.Ile4955Asn) c.14849T>A (p.Ile4950Asn) c.14879T>A (p.Ile4960Asn) c.14795T>A (p.Ile4932Asn) | |
| 19 | g.38586104T>C | CA405692670 | RYR1 | c.1818T>C c.3215T>C c.3187T>C n.275T>C c.14882T>C (p.Ile4961Thr) c.14867T>C (p.Ile4956Thr) c.14864T>C (p.Ile4955Thr) c.14849T>C (p.Ile4950Thr) c.14879T>C (p.Ile4960Thr) c.14795T>C (p.Ile4932Thr) | |
| 19 | g.38586104T>G | CA081361 | RYR1 | c.1818T>G c.3215T>G c.3187T>G n.275T>G c.14882T>G (p.Ile4961Ser) c.14867T>G (p.Ile4956Ser) c.14864T>G (p.Ile4955Ser) c.14849T>G (p.Ile4950Ser) c.14879T>G (p.Ile4960Ser) c.14795T>G (p.Ile4932Ser) | |
| 19 | g.38586105C>A | CA507246614 | RYR1 | c.1819C>A c.3216C>A c.3188C>A n.276C>A c.14883C>A (p.Ile4961=) c.14868C>A (p.Ile4956=) c.14865C>A (p.Ile4955=) c.14850C>A (p.Ile4950=) c.14880C>A (p.Ile4960=) c.14796C>A (p.Ile4932=) | |
| 19 | g.38586105C= | CA2335095555 | RYR1 | c.1819C= c.3216C= c.3188C= n.276C= c.14883C= (p.Ile4961=) c.14868C= (p.Ile4956=) c.14865C= (p.Ile4955=) c.14850C= (p.Ile4950=) c.14880C= (p.Ile4960=) c.14796C= (p.Ile4932=) | |
| 19 | g.38586105C>G | CA308126661 | RYR1 | c.1819C>G c.3216C>G c.3188C>G n.276C>G c.14883C>G (p.Ile4961Met) c.14868C>G (p.Ile4956Met) c.14865C>G (p.Ile4955Met) c.14850C>G (p.Ile4950Met) c.14880C>G (p.Ile4960Met) c.14796C>G (p.Ile4932Met) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38586105C>T | CA507246615 | RYR1 | c.1819C>T c.3216C>T c.3188C>T n.276C>T c.14883C>T (p.Ile4961=) c.14868C>T (p.Ile4956=) c.14865C>T (p.Ile4955=) c.14850C>T (p.Ile4950=) c.14880C>T (p.Ile4960=) c.14796C>T (p.Ile4932=) | |
| 19 | g.38586106T>A | CA405692671 | RYR1 | c.1820T>A c.3217T>A c.3189T>A n.277T>A c.14884T>A (p.Cys4962Ser) c.14869T>A (p.Cys4957Ser) c.14866T>A (p.Cys4956Ser) c.14851T>A (p.Cys4951Ser) c.14881T>A (p.Cys4961Ser) c.14797T>A (p.Cys4933Ser) | |
| 19 | g.38586106T>C | CA405692673 | RYR1 | c.1820T>C c.3217T>C c.3189T>C n.277T>C c.14884T>C (p.Cys4962Arg) c.14869T>C (p.Cys4957Arg) c.14866T>C (p.Cys4956Arg) c.14851T>C (p.Cys4951Arg) c.14881T>C (p.Cys4961Arg) c.14797T>C (p.Cys4933Arg) | |
| 19 | g.38586106T>G | CA405692674 | RYR1 | c.1820T>G c.3217T>G c.3189T>G n.277T>G c.14884T>G (p.Cys4962Gly) c.14869T>G (p.Cys4957Gly) c.14866T>G (p.Cys4956Gly) c.14851T>G (p.Cys4951Gly) c.14881T>G (p.Cys4961Gly) c.14797T>G (p.Cys4933Gly) | |
| 19 | g.38586107G>A | CA405692676 | RYR1 | c.1821G>A c.3218G>A c.3190G>A n.278G>A c.14885G>A (p.Cys4962Tyr) c.14870G>A (p.Cys4957Tyr) c.14867G>A (p.Cys4956Tyr) c.14852G>A (p.Cys4951Tyr) c.14882G>A (p.Cys4961Tyr) c.14798G>A (p.Cys4933Tyr) | |
| 19 | g.38586107G>C | CA405692686 | RYR1 | c.1821G>C c.3218G>C c.3190G>C n.278G>C c.14885G>C (p.Cys4962Ser) c.14870G>C (p.Cys4957Ser) c.14867G>C (p.Cys4956Ser) c.14852G>C (p.Cys4951Ser) c.14882G>C (p.Cys4961Ser) c.14798G>C (p.Cys4933Ser) | |
| 19 | g.38586107G= | CA2335095556 | RYR1 | c.1821G= c.3218G= c.3190G= n.278G= c.14885G= (p.Cys4962=) c.14870G= (p.Cys4957=) c.14867G= (p.Cys4956=) c.14852G= (p.Cys4951=) c.14882G= (p.Cys4961=) c.14798G= (p.Cys4933=) | |
| 19 | g.38586107G>T | CA405692683 | RYR1 | c.1821G>T c.3218G>T c.3190G>T n.278G>T c.14885G>T (p.Cys4962Phe) c.14870G>T (p.Cys4957Phe) c.14867G>T (p.Cys4956Phe) c.14852G>T (p.Cys4951Phe) c.14882G>T (p.Cys4961Phe) c.14798G>T (p.Cys4933Phe) | dbSNP gnomAD v2 |
| 19 | g.38586108T>A | CA405692689 | RYR1 | c.1822T>A c.3219T>A c.3191T>A n.279T>A c.14886T>A (p.Cys4962Ter) c.14871T>A (p.Cys4957Ter) c.14868T>A (p.Cys4956Ter) c.14853T>A (p.Cys4951Ter) c.14883T>A (p.Cys4961Ter) c.14799T>A (p.Cys4933Ter) | |
| 19 | g.38586108T>C | CA507246616 | RYR1 | c.1822T>C c.3219T>C c.3191T>C n.279T>C c.14886T>C (p.Cys4962=) c.14871T>C (p.Cys4957=) c.14868T>C (p.Cys4956=) c.14853T>C (p.Cys4951=) c.14883T>C (p.Cys4961=) c.14799T>C (p.Cys4933=) | |
| 19 | g.38586108T>G | CA405692696 | RYR1 | c.1822T>G c.3219T>G c.3191T>G n.279T>G c.14886T>G (p.Cys4962Trp) c.14871T>G (p.Cys4957Trp) c.14868T>G (p.Cys4956Trp) c.14853T>G (p.Cys4951Trp) c.14883T>G (p.Cys4961Trp) c.14799T>G (p.Cys4933Trp) | |
| 19 | g.38586109G>A | CA405692700 | RYR1 | c.1823G>A c.3220G>A c.3192G>A n.280G>A c.14887G>A (p.Gly4963Arg) c.14872G>A (p.Gly4958Arg) c.14869G>A (p.Gly4957Arg) c.14854G>A (p.Gly4952Arg) c.14884G>A (p.Gly4962Arg) c.14800G>A (p.Gly4934Arg) | |
| 19 | g.38586109G>C | CA405692711 | RYR1 | c.1823G>C c.3220G>C c.3192G>C n.280G>C c.14887G>C (p.Gly4963Arg) c.14872G>C (p.Gly4958Arg) c.14869G>C (p.Gly4957Arg) c.14854G>C (p.Gly4952Arg) c.14884G>C (p.Gly4962Arg) c.14800G>C (p.Gly4934Arg) | |
| 19 | g.38586109G>T | CA405692702 | RYR1 | c.1823G>T c.3220G>T c.3192G>T n.280G>T c.14887G>T (p.Gly4963Ter) c.14872G>T (p.Gly4958Ter) c.14869G>T (p.Gly4957Ter) c.14854G>T (p.Gly4952Ter) c.14884G>T (p.Gly4962Ter) c.14800G>T (p.Gly4934Ter) | |
| 19 | g.38586110G>A | CA405692715 | RYR1 | c.1824G>A c.3221G>A c.3193G>A n.281G>A c.14888G>A (p.Gly4963Glu) c.14873G>A (p.Gly4958Glu) c.14870G>A (p.Gly4957Glu) c.14855G>A (p.Gly4952Glu) c.14885G>A (p.Gly4962Glu) c.14801G>A (p.Gly4934Glu) | COSMIC |
| 19 | g.38586110G>C | CA405692719 | RYR1 | c.1824G>C c.3221G>C c.3193G>C n.281G>C c.14888G>C (p.Gly4963Ala) c.14873G>C (p.Gly4958Ala) c.14870G>C (p.Gly4957Ala) c.14855G>C (p.Gly4952Ala) c.14885G>C (p.Gly4962Ala) c.14801G>C (p.Gly4934Ala) | |
| 19 | g.38586110G= | CA2335095557 | RYR1 | c.1824G= c.3221G= c.3193G= n.281G= c.14888G= (p.Gly4963=) c.14873G= (p.Gly4958=) c.14870G= (p.Gly4957=) c.14855G= (p.Gly4952=) c.14885G= (p.Gly4962=) c.14801G= (p.Gly4934=) | |
| 19 | g.38586110G>T | CA405692717 | RYR1 | c.1824G>T c.3221G>T c.3193G>T n.281G>T c.14888G>T (p.Gly4963Val) c.14873G>T (p.Gly4958Val) c.14870G>T (p.Gly4957Val) c.14855G>T (p.Gly4952Val) c.14885G>T (p.Gly4962Val) c.14801G>T (p.Gly4934Val) | |
| 19 | g.38586111A>C | CA507246617 | RYR1 | c.1825A>C c.3222A>C c.3194A>C n.282A>C c.14889A>C (p.Gly4963=) c.14874A>C (p.Gly4958=) c.14871A>C (p.Gly4957=) c.14856A>C (p.Gly4952=) c.14886A>C (p.Gly4962=) c.14802A>C (p.Gly4934=) | |
| 19 | g.38586111A>G | CA507246618 | RYR1 | c.1825A>G c.3222A>G c.3194A>G n.282A>G c.14889A>G (p.Gly4963=) c.14874A>G (p.Gly4958=) c.14871A>G (p.Gly4957=) c.14856A>G (p.Gly4952=) c.14886A>G (p.Gly4962=) c.14802A>G (p.Gly4934=) | |
| 19 | g.38586111A>T | CA507246619 | RYR1 | c.1825A>T c.3222A>T c.3194A>T n.282A>T c.14889A>T (p.Gly4963=) c.14874A>T (p.Gly4958=) c.14871A>T (p.Gly4957=) c.14856A>T (p.Gly4952=) c.14886A>T (p.Gly4962=) c.14802A>T (p.Gly4934=) | |
| 19 | g.38586112dup | CA632878115 | RYR1 | c.1826dup c.3223dup c.3195dup n.283dup c.14890dup (p.Ile4964AsnfsTer4) c.14875dup (p.Ile4959AsnfsTer4) c.14872dup (p.Ile4958AsnfsTer4) c.14857dup (p.Ile4953AsnfsTer4) c.14887dup (p.Ile4963AsnfsTer4) c.14803dup (p.Ile4935AsnfsTer4) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38586112A= | CA2335095558 | RYR1 | c.1826A= c.3223A= c.3195A= n.283A= c.14890A= (p.Ile4964=) c.14875A= (p.Ile4959=) c.14872A= (p.Ile4958=) c.14857A= (p.Ile4953=) c.14887A= (p.Ile4963=) c.14803A= (p.Ile4935=) | |
| 19 | g.38586112A>C | CA405692720 | RYR1 | c.1826A>C c.3223A>C c.3195A>C n.283A>C c.14890A>C (p.Ile4964Leu) c.14875A>C (p.Ile4959Leu) c.14872A>C (p.Ile4958Leu) c.14857A>C (p.Ile4953Leu) c.14887A>C (p.Ile4963Leu) c.14803A>C (p.Ile4935Leu) | |
| 19 | g.38586112A>G | CA405692722 | RYR1 | c.1826A>G c.3223A>G c.3195A>G n.283A>G c.14890A>G (p.Ile4964Val) c.14875A>G (p.Ile4959Val) c.14872A>G (p.Ile4958Val) c.14857A>G (p.Ile4953Val) c.14887A>G (p.Ile4963Val) c.14803A>G (p.Ile4935Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38586112A>T | CA405692725 | RYR1 | c.1826A>T c.3223A>T c.3195A>T n.283A>T c.14890A>T (p.Ile4964Phe) c.14875A>T (p.Ile4959Phe) c.14872A>T (p.Ile4958Phe) c.14857A>T (p.Ile4953Phe) c.14887A>T (p.Ile4963Phe) c.14803A>T (p.Ile4935Phe) | |
| 19 | g.38586113T>A | CA405692729 | RYR1 | c.1827T>A c.3224T>A c.3196T>A n.284T>A c.14891T>A (p.Ile4964Asn) c.14876T>A (p.Ile4959Asn) c.14873T>A (p.Ile4958Asn) c.14858T>A (p.Ile4953Asn) c.14888T>A (p.Ile4963Asn) c.14804T>A (p.Ile4935Asn) | |
| 19 | g.38586113T>C | CA405692734 | RYR1 | c.1827T>C c.3224T>C c.3196T>C n.284T>C c.14891T>C (p.Ile4964Thr) c.14876T>C (p.Ile4959Thr) c.14873T>C (p.Ile4958Thr) c.14858T>C (p.Ile4953Thr) c.14888T>C (p.Ile4963Thr) c.14804T>C (p.Ile4935Thr) | |
| 19 | g.38586113T>G | CA405692737 | RYR1 | c.1827T>G c.3224T>G c.3196T>G n.284T>G c.14891T>G (p.Ile4964Ser) c.14876T>G (p.Ile4959Ser) c.14873T>G (p.Ile4958Ser) c.14858T>G (p.Ile4953Ser) c.14888T>G (p.Ile4963Ser) c.14804T>G (p.Ile4935Ser) | |
| 19 | g.38586114C>A | CA024274 | RYR1 | c.1828C>A c.3225C>A c.3197C>A n.285C>A c.14892C>A (p.Ile4964=) c.14877C>A (p.Ile4959=) c.14874C>A (p.Ile4958=) c.14859C>A (p.Ile4953=) c.14889C>A (p.Ile4963=) c.14805C>A (p.Ile4935=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38586114C= | CA2335095559 | RYR1 | c.1828C= c.3225C= c.3197C= n.285C= c.14892C= (p.Ile4964=) c.14877C= (p.Ile4959=) c.14874C= (p.Ile4958=) c.14859C= (p.Ile4953=) c.14889C= (p.Ile4963=) c.14805C= (p.Ile4935=) | |
| 19 | g.38586114C>G | CA405692743 | RYR1 | c.1828C>G c.3225C>G c.3197C>G n.285C>G c.14892C>G (p.Ile4964Met) c.14877C>G (p.Ile4959Met) c.14874C>G (p.Ile4958Met) c.14859C>G (p.Ile4953Met) c.14889C>G (p.Ile4963Met) c.14805C>G (p.Ile4935Met) | |
| 19 | g.38586114C>T | CA061776 | RYR1 | c.1828C>T c.3225C>T c.3197C>T n.285C>T c.14892C>T (p.Ile4964=) c.14877C>T (p.Ile4959=) c.14874C>T (p.Ile4958=) c.14859C>T (p.Ile4953=) c.14889C>T (p.Ile4963=) c.14805C>T (p.Ile4935=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38586115G>A | CA405692757 | RYR1 | c.1829G>A c.3226G>A c.3198G>A n.286G>A c.14893G>A (p.Gly4965Ser) c.14878G>A (p.Gly4960Ser) c.14875G>A (p.Gly4959Ser) c.14860G>A (p.Gly4954Ser) c.14890G>A (p.Gly4964Ser) c.14806G>A (p.Gly4936Ser) | ClinVar gnomAD v4 |
| 19 | g.38586115G>C | CA405692764 | RYR1 | c.1829G>C c.3226G>C c.3198G>C n.286G>C c.14893G>C (p.Gly4965Arg) c.14878G>C (p.Gly4960Arg) c.14875G>C (p.Gly4959Arg) c.14860G>C (p.Gly4954Arg) c.14890G>C (p.Gly4964Arg) c.14806G>C (p.Gly4936Arg) | |
| 19 | g.38586115G>T | CA405692768 | RYR1 | c.1829G>T c.3226G>T c.3198G>T n.286G>T c.14893G>T (p.Gly4965Cys) c.14878G>T (p.Gly4960Cys) c.14875G>T (p.Gly4959Cys) c.14860G>T (p.Gly4954Cys) c.14890G>T (p.Gly4964Cys) c.14806G>T (p.Gly4936Cys) | gnomAD v4 |
| 19 | g.38586116G>A | CA405692772 | RYR1 | c.1830G>A c.3227G>A c.3199G>A n.287G>A c.14894G>A (p.Gly4965Asp) c.14879G>A (p.Gly4960Asp) c.14876G>A (p.Gly4959Asp) c.14861G>A (p.Gly4954Asp) c.14891G>A (p.Gly4964Asp) c.14807G>A (p.Gly4936Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38586116G>C | CA405692779 | RYR1 | c.1830G>C c.3227G>C c.3199G>C n.287G>C c.14894G>C (p.Gly4965Ala) c.14879G>C (p.Gly4960Ala) c.14876G>C (p.Gly4959Ala) c.14861G>C (p.Gly4954Ala) c.14891G>C (p.Gly4964Ala) c.14807G>C (p.Gly4936Ala) | |
| 19 | g.38586116G= | CA2335095560 | RYR1 | c.1830G= c.3227G= c.3199G= n.287G= c.14894G= (p.Gly4965=) c.14879G= (p.Gly4960=) c.14876G= (p.Gly4959=) c.14861G= (p.Gly4954=) c.14891G= (p.Gly4964=) c.14807G= (p.Gly4936=) | |
| 19 | g.38586116G>T | CA405692776 | RYR1 | c.1830G>T c.3227G>T c.3199G>T n.287G>T c.14894G>T (p.Gly4965Val) c.14879G>T (p.Gly4960Val) c.14876G>T (p.Gly4959Val) c.14861G>T (p.Gly4954Val) c.14891G>T (p.Gly4964Val) c.14807G>T (p.Gly4936Val) | gnomAD v4 |
| 19 | g.38586117C>A | CA081362 | RYR1 | c.1831C>A c.3228C>A c.3200C>A n.288C>A c.14895C>A (p.Gly4965=) c.14880C>A (p.Gly4960=) c.14877C>A (p.Gly4959=) c.14862C>A (p.Gly4954=) c.14892C>A (p.Gly4964=) c.14808C>A (p.Gly4936=) | |
| 19 | g.38586117C= | CA2335095561 | RYR1 | c.1831C= c.3228C= c.3200C= n.288C= c.14895C= (p.Gly4965=) c.14880C= (p.Gly4960=) c.14877C= (p.Gly4959=) c.14862C= (p.Gly4954=) c.14892C= (p.Gly4964=) c.14808C= (p.Gly4936=) | |
| 19 | g.38586117C>G | CA507246620 | RYR1 | c.1831C>G c.3228C>G c.3200C>G n.288C>G c.14895C>G (p.Gly4965=) c.14880C>G (p.Gly4960=) c.14877C>G (p.Gly4959=) c.14862C>G (p.Gly4954=) c.14892C>G (p.Gly4964=) c.14808C>G (p.Gly4936=) | |
| 19 | g.38586117C>T | CA061781 | RYR1 | c.1831C>T c.3228C>T c.3200C>T n.288C>T c.14895C>T (p.Gly4965=) c.14880C>T (p.Gly4960=) c.14877C>T (p.Gly4959=) c.14862C>T (p.Gly4954=) c.14892C>T (p.Gly4964=) c.14808C>T (p.Gly4936=) | ClinVar dbSNP ExAC gnomAD v2 |
| 19 | g.38586118A>C | CA405692793 | RYR1 | c.1832A>C c.3229A>C c.3201A>C n.289A>C c.14896A>C (p.Ser4966Arg) c.14881A>C (p.Ser4961Arg) c.14878A>C (p.Ser4960Arg) c.14863A>C (p.Ser4955Arg) c.14893A>C (p.Ser4965Arg) c.14809A>C (p.Ser4937Arg) | |
| 19 | g.38586118A>G | CA405692817 | RYR1 | c.1832A>G c.3229A>G c.3201A>G n.289A>G c.14896A>G (p.Ser4966Gly) c.14881A>G (p.Ser4961Gly) c.14878A>G (p.Ser4960Gly) c.14863A>G (p.Ser4955Gly) c.14893A>G (p.Ser4965Gly) c.14809A>G (p.Ser4937Gly) | |
| 19 | g.38586118A>T | CA405692822 | RYR1 | c.1832A>T c.3229A>T c.3201A>T n.289A>T c.14896A>T (p.Ser4966Cys) c.14881A>T (p.Ser4961Cys) c.14878A>T (p.Ser4960Cys) c.14863A>T (p.Ser4955Cys) c.14893A>T (p.Ser4965Cys) c.14809A>T (p.Ser4937Cys) | |
| 19 | g.38586119G>A | CA405692825 | RYR1 | c.1833G>A c.3230G>A c.3202G>A n.290G>A c.14897G>A (p.Ser4966Asn) c.14882G>A (p.Ser4961Asn) c.14879G>A (p.Ser4960Asn) c.14864G>A (p.Ser4955Asn) c.14894G>A (p.Ser4965Asn) c.14810G>A (p.Ser4937Asn) | |
| 19 | g.38586119G>C | CA405692837 | RYR1 | c.1833G>C c.3230G>C c.3202G>C n.290G>C c.14897G>C (p.Ser4966Thr) c.14882G>C (p.Ser4961Thr) c.14879G>C (p.Ser4960Thr) c.14864G>C (p.Ser4955Thr) c.14894G>C (p.Ser4965Thr) c.14810G>C (p.Ser4937Thr) | |
| 19 | g.38586119G>T | CA405692839 | RYR1 | c.1833G>T c.3230G>T c.3202G>T n.290G>T c.14897G>T (p.Ser4966Ile) c.14882G>T (p.Ser4961Ile) c.14879G>T (p.Ser4960Ile) c.14864G>T (p.Ser4955Ile) c.14894G>T (p.Ser4965Ile) c.14810G>T (p.Ser4937Ile) | |
| 19 | g.38586120T>A | CA405692840 | RYR1 | c.1834T>A c.3231T>A c.3203T>A n.291T>A c.14898T>A (p.Ser4966Arg) c.14883T>A (p.Ser4961Arg) c.14880T>A (p.Ser4960Arg) c.14865T>A (p.Ser4955Arg) c.14895T>A (p.Ser4965Arg) c.14811T>A (p.Ser4937Arg) | |
| 19 | g.38586120T>C | CA507246621 | RYR1 | c.1834T>C c.3231T>C c.3203T>C n.291T>C c.14898T>C (p.Ser4966=) c.14883T>C (p.Ser4961=) c.14880T>C (p.Ser4960=) c.14865T>C (p.Ser4955=) c.14895T>C (p.Ser4965=) c.14811T>C (p.Ser4937=) | |
| 19 | g.38586120T>G | CA405692844 | RYR1 | c.1834T>G c.3231T>G c.3203T>G n.291T>G c.14898T>G (p.Ser4966Arg) c.14883T>G (p.Ser4961Arg) c.14880T>G (p.Ser4960Arg) c.14865T>G (p.Ser4955Arg) c.14895T>G (p.Ser4965Arg) c.14811T>G (p.Ser4937Arg) | |
| 19 | g.38586121G>A | CA081345 | RYR1 | c.1835G>A c.3232G>A c.3204G>A n.292G>A c.14899G>A (p.Asp4967Asn) c.14884G>A (p.Asp4962Asn) c.14881G>A (p.Asp4961Asn) c.14866G>A (p.Asp4956Asn) c.14896G>A (p.Asp4966Asn) c.14812G>A (p.Asp4938Asn) | |
| 19 | g.38586121G>C | CA405692849 | RYR1 | c.1835G>C c.3232G>C c.3204G>C n.292G>C c.14899G>C (p.Asp4967His) c.14884G>C (p.Asp4962His) c.14881G>C (p.Asp4961His) c.14866G>C (p.Asp4956His) c.14896G>C (p.Asp4966His) c.14812G>C (p.Asp4938His) | |
| 19 | g.38586121G>T | CA405692846 | RYR1 | c.1835G>T c.3232G>T c.3204G>T n.292G>T c.14899G>T (p.Asp4967Tyr) c.14884G>T (p.Asp4962Tyr) c.14881G>T (p.Asp4961Tyr) c.14866G>T (p.Asp4956Tyr) c.14896G>T (p.Asp4966Tyr) c.14812G>T (p.Asp4938Tyr) | |
| 19 | g.38586122A>C | CA405692855 | RYR1 | c.1836A>C c.3233A>C c.3205A>C n.293A>C c.14900A>C (p.Asp4967Ala) c.14885A>C (p.Asp4962Ala) c.14882A>C (p.Asp4961Ala) c.14867A>C (p.Asp4956Ala) c.14897A>C (p.Asp4966Ala) c.14813A>C (p.Asp4938Ala) | |
| 19 | g.38586122A>G | CA405692861 | RYR1 | c.1836A>G c.3233A>G c.3205A>G n.293A>G c.14900A>G (p.Asp4967Gly) c.14885A>G (p.Asp4962Gly) c.14882A>G (p.Asp4961Gly) c.14867A>G (p.Asp4956Gly) c.14897A>G (p.Asp4966Gly) c.14813A>G (p.Asp4938Gly) | |
| 19 | g.38586122A>T | CA405692863 | RYR1 | c.1836A>T c.3233A>T c.3205A>T n.293A>T c.14900A>T (p.Asp4967Val) c.14885A>T (p.Asp4962Val) c.14882A>T (p.Asp4961Val) c.14867A>T (p.Asp4956Val) c.14897A>T (p.Asp4966Val) c.14813A>T (p.Asp4938Val) | |
| 19 | g.38586123C>A | CA405692866 | RYR1 | c.1837C>A c.3234C>A c.3206C>A n.294C>A c.14901C>A (p.Asp4967Glu) c.14886C>A (p.Asp4962Glu) c.14883C>A (p.Asp4961Glu) c.14868C>A (p.Asp4956Glu) c.14898C>A (p.Asp4966Glu) c.14814C>A (p.Asp4938Glu) | gnomAD v4 |
| 19 | g.38586123C= | CA2335095562 | RYR1 | c.1837C= c.3234C= c.3206C= n.294C= c.14901C= (p.Asp4967=) c.14886C= (p.Asp4962=) c.14883C= (p.Asp4961=) c.14868C= (p.Asp4956=) c.14898C= (p.Asp4966=) c.14814C= (p.Asp4938=) | |
| 19 | g.38586123C>G | CA061783 | RYR1 | c.1837C>G c.3234C>G c.3206C>G n.294C>G c.14901C>G (p.Asp4967Glu) c.14886C>G (p.Asp4962Glu) c.14883C>G (p.Asp4961Glu) c.14868C>G (p.Asp4956Glu) c.14898C>G (p.Asp4966Glu) c.14814C>G (p.Asp4938Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38586123C>T | CA507246622 | RYR1 | c.1837C>T c.3234C>T c.3206C>T n.294C>T c.14901C>T (p.Asp4967=) c.14886C>T (p.Asp4962=) c.14883C>T (p.Asp4961=) c.14868C>T (p.Asp4956=) c.14898C>T (p.Asp4966=) c.14814C>T (p.Asp4938=) | |
| 19 | g.38586124T>A | CA405692878 | RYR1 | c.1838T>A c.3235T>A c.3207T>A n.295T>A c.14902T>A (p.Tyr4968Asn) c.14887T>A (p.Tyr4963Asn) c.14884T>A (p.Tyr4962Asn) c.14869T>A (p.Tyr4957Asn) c.14899T>A (p.Tyr4967Asn) c.14815T>A (p.Tyr4939Asn) | |
| 19 | g.38586124T>C | CA405692881 | RYR1 | c.1838T>C c.3235T>C c.3207T>C n.295T>C c.14902T>C (p.Tyr4968His) c.14887T>C (p.Tyr4963His) c.14884T>C (p.Tyr4962His) c.14869T>C (p.Tyr4957His) c.14899T>C (p.Tyr4967His) c.14815T>C (p.Tyr4939His) | ClinVar |
| 19 | g.38586124T>G | CA405692885 | RYR1 | c.1838T>G c.3235T>G c.3207T>G n.295T>G c.14902T>G (p.Tyr4968Asp) c.14887T>G (p.Tyr4963Asp) c.14884T>G (p.Tyr4962Asp) c.14869T>G (p.Tyr4957Asp) c.14899T>G (p.Tyr4967Asp) c.14815T>G (p.Tyr4939Asp) | |
| 19 | g.38586125A= | CA2335095563 | RYR1 | c.1839A= c.3236A= c.3208A= n.296A= c.14903A= (p.Tyr4968=) c.14888A= (p.Tyr4963=) c.14885A= (p.Tyr4962=) c.14870A= (p.Tyr4957=) c.14900A= (p.Tyr4967=) c.14816A= (p.Tyr4939=) | |
| 19 | g.38586125A>C | CA405692892 | RYR1 | c.1839A>C c.3236A>C c.3208A>C n.296A>C c.14903A>C (p.Tyr4968Ser) c.14888A>C (p.Tyr4963Ser) c.14885A>C (p.Tyr4962Ser) c.14870A>C (p.Tyr4957Ser) c.14900A>C (p.Tyr4967Ser) c.14816A>C (p.Tyr4939Ser) | |
| 19 | g.38586125A>G | CA405692896 | RYR1 | c.1839A>G c.3236A>G c.3208A>G n.296A>G c.14903A>G (p.Tyr4968Cys) c.14888A>G (p.Tyr4963Cys) c.14885A>G (p.Tyr4962Cys) c.14870A>G (p.Tyr4957Cys) c.14900A>G (p.Tyr4967Cys) c.14816A>G (p.Tyr4939Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38586125A>T | CA405692899 | RYR1 | c.1839A>T c.3236A>T c.3208A>T n.296A>T c.14903A>T (p.Tyr4968Phe) c.14888A>T (p.Tyr4963Phe) c.14885A>T (p.Tyr4962Phe) c.14870A>T (p.Tyr4957Phe) c.14900A>T (p.Tyr4967Phe) c.14816A>T (p.Tyr4939Phe) | |
| 19 | g.38586126C>A | CA405692901 | RYR1 | c.1840C>A c.3237C>A c.3209C>A n.297C>A c.14904C>A (p.Tyr4968Ter) c.14889C>A (p.Tyr4963Ter) c.14886C>A (p.Tyr4962Ter) c.14871C>A (p.Tyr4957Ter) c.14901C>A (p.Tyr4967Ter) c.14817C>A (p.Tyr4939Ter) | ClinVar dbSNP |
| 19 | g.38586126C>G | CA081364 | RYR1 | c.1840C>G c.3237C>G c.3209C>G n.297C>G c.14904C>G (p.Tyr4968Ter) c.14889C>G (p.Tyr4963Ter) c.14886C>G (p.Tyr4962Ter) c.14871C>G (p.Tyr4957Ter) c.14901C>G (p.Tyr4967Ter) c.14817C>G (p.Tyr4939Ter) | |
| 19 | g.38586126C>T | CA507246623 | RYR1 | c.1840C>T c.3237C>T c.3209C>T n.297C>T c.14904C>T (p.Tyr4968=) c.14889C>T (p.Tyr4963=) c.14886C>T (p.Tyr4962=) c.14871C>T (p.Tyr4957=) c.14901C>T (p.Tyr4967=) c.14817C>T (p.Tyr4939=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38586127T>A | CA405692909 | RYR1 | c.1841T>A c.3238T>A c.3210T>A n.298T>A c.14905T>A (p.Phe4969Ile) c.14890T>A (p.Phe4964Ile) c.14887T>A (p.Phe4963Ile) c.14872T>A (p.Phe4958Ile) c.14902T>A (p.Phe4968Ile) c.14818T>A (p.Phe4940Ile) | |
| 19 | g.38586127T>C | CA405692914 | RYR1 | c.1841T>C c.3238T>C c.3210T>C n.298T>C c.14905T>C (p.Phe4969Leu) c.14890T>C (p.Phe4964Leu) c.14887T>C (p.Phe4963Leu) c.14872T>C (p.Phe4958Leu) c.14902T>C (p.Phe4968Leu) c.14818T>C (p.Phe4940Leu) | ClinVar |
| 19 | g.38586127T>G | CA405692911 | RYR1 | c.1841T>G c.3238T>G c.3210T>G n.298T>G c.14905T>G (p.Phe4969Val) c.14890T>G (p.Phe4964Val) c.14887T>G (p.Phe4963Val) c.14872T>G (p.Phe4958Val) c.14902T>G (p.Phe4968Val) c.14818T>G (p.Phe4940Val) | |
| 19 | g.38586128T>A | CA405692918 | RYR1 | c.1842T>A c.3239T>A c.3211T>A n.299T>A c.14906T>A (p.Phe4969Tyr) c.14891T>A (p.Phe4964Tyr) c.14888T>A (p.Phe4963Tyr) c.14873T>A (p.Phe4958Tyr) c.14903T>A (p.Phe4968Tyr) c.14819T>A (p.Phe4940Tyr) | |
| 19 | g.38586128T>C | CA405692919 | RYR1 | c.1842T>C c.3239T>C c.3211T>C n.299T>C c.14906T>C (p.Phe4969Ser) c.14891T>C (p.Phe4964Ser) c.14888T>C (p.Phe4963Ser) c.14873T>C (p.Phe4958Ser) c.14903T>C (p.Phe4968Ser) c.14819T>C (p.Phe4940Ser) | gnomAD v4 |
| 19 | g.38586128T>G | CA405692920 | RYR1 | c.1842T>G c.3239T>G c.3211T>G n.299T>G c.14906T>G (p.Phe4969Cys) c.14891T>G (p.Phe4964Cys) c.14888T>G (p.Phe4963Cys) c.14873T>G (p.Phe4958Cys) c.14903T>G (p.Phe4968Cys) c.14819T>G (p.Phe4940Cys) | |
| 19 | g.38586129T>A | CA405692921 | RYR1 | c.1843T>A c.3240T>A c.3212T>A n.300T>A c.14907T>A (p.Phe4969Leu) c.14892T>A (p.Phe4964Leu) c.14889T>A (p.Phe4963Leu) c.14874T>A (p.Phe4958Leu) c.14904T>A (p.Phe4968Leu) c.14820T>A (p.Phe4940Leu) | |
| 19 | g.38586129T>C | CA507246625 | RYR1 | c.1843T>C c.3240T>C c.3212T>C n.300T>C c.14907T>C (p.Phe4969=) c.14892T>C (p.Phe4964=) c.14889T>C (p.Phe4963=) c.14874T>C (p.Phe4958=) c.14904T>C (p.Phe4968=) c.14820T>C (p.Phe4940=) | |
| 19 | g.38586129T>G | CA405692922 | RYR1 | c.1843T>G c.3240T>G c.3212T>G n.300T>G c.14907T>G (p.Phe4969Leu) c.14892T>G (p.Phe4964Leu) c.14889T>G (p.Phe4963Leu) c.14874T>G (p.Phe4958Leu) c.14904T>G (p.Phe4968Leu) c.14820T>G (p.Phe4940Leu) | gnomAD v4 |
| 19 | g.38586130G>A | CA405692924 | RYR1 | c.1844G>A c.3241G>A c.3213G>A n.301G>A c.14908G>A (p.Asp4970Asn) c.14893G>A (p.Asp4965Asn) c.14890G>A (p.Asp4964Asn) c.14875G>A (p.Asp4959Asn) c.14905G>A (p.Asp4969Asn) c.14821G>A (p.Asp4941Asn) | |
| 19 | g.38586130G>C | CA405692926 | RYR1 | c.1844G>C c.3241G>C c.3213G>C n.301G>C c.14908G>C (p.Asp4970His) c.14893G>C (p.Asp4965His) c.14890G>C (p.Asp4964His) c.14875G>C (p.Asp4959His) c.14905G>C (p.Asp4969His) c.14821G>C (p.Asp4941His) | |
| 19 | g.38586130G>T | CA405692929 | RYR1 | c.1844G>T c.3241G>T c.3213G>T n.301G>T c.14908G>T (p.Asp4970Tyr) c.14893G>T (p.Asp4965Tyr) c.14890G>T (p.Asp4964Tyr) c.14875G>T (p.Asp4959Tyr) c.14905G>T (p.Asp4969Tyr) c.14821G>T (p.Asp4941Tyr) | |
| 19 | g.38586131A>C | CA405692930 | RYR1 | c.1845A>C c.3242A>C c.3214A>C n.302A>C c.14909A>C (p.Asp4970Ala) c.14894A>C (p.Asp4965Ala) c.14891A>C (p.Asp4964Ala) c.14876A>C (p.Asp4959Ala) c.14906A>C (p.Asp4969Ala) c.14822A>C (p.Asp4941Ala) | |
| 19 | g.38586131A>G | CA405692932 | RYR1 | c.1845A>G c.3242A>G c.3214A>G n.302A>G c.14909A>G (p.Asp4970Gly) c.14894A>G (p.Asp4965Gly) c.14891A>G (p.Asp4964Gly) c.14876A>G (p.Asp4959Gly) c.14906A>G (p.Asp4969Gly) c.14822A>G (p.Asp4941Gly) | |
| 19 | g.38586131A>T | CA405692941 | RYR1 | c.1845A>T c.3242A>T c.3214A>T n.302A>T c.14909A>T (p.Asp4970Val) c.14894A>T (p.Asp4965Val) c.14891A>T (p.Asp4964Val) c.14876A>T (p.Asp4959Val) c.14906A>T (p.Asp4969Val) c.14822A>T (p.Asp4941Val) | |
| 19 | g.38586132T>A | CA405692955 | RYR1 | c.1846T>A c.3243T>A c.3215T>A n.303T>A c.14910T>A (p.Asp4970Glu) c.14895T>A (p.Asp4965Glu) c.14892T>A (p.Asp4964Glu) c.14877T>A (p.Asp4959Glu) c.14907T>A (p.Asp4969Glu) c.14823T>A (p.Asp4941Glu) | |
| 19 | g.38586132T>C | CA507246626 | RYR1 | c.1846T>C c.3243T>C c.3215T>C n.303T>C c.14910T>C (p.Asp4970=) c.14895T>C (p.Asp4965=) c.14892T>C (p.Asp4964=) c.14877T>C (p.Asp4959=) c.14907T>C (p.Asp4969=) c.14823T>C (p.Asp4941=) | dbSNP |
| 19 | g.38586132T>G | CA405692951 | RYR1 | c.1846T>G c.3243T>G c.3215T>G n.303T>G c.14910T>G (p.Asp4970Glu) c.14895T>G (p.Asp4965Glu) c.14892T>G (p.Asp4964Glu) c.14877T>G (p.Asp4959Glu) c.14907T>G (p.Asp4969Glu) c.14823T>G (p.Asp4941Glu) | |
| 19 | g.38586132T= | CA2335095564 | RYR1 | c.1846T= c.3243T= c.3215T= n.303T= c.14910T= (p.Asp4970=) c.14895T= (p.Asp4965=) c.14892T= (p.Asp4964=) c.14877T= (p.Asp4959=) c.14907T= (p.Asp4969=) c.14823T= (p.Asp4941=) | |
| 19 | g.38586133A= | CA2335095565 | RYR1 | c.1847A= c.3244A= c.3216A= n.304A= c.14911A= (p.Thr4971=) c.14896A= (p.Thr4966=) c.14893A= (p.Thr4965=) c.14878A= (p.Thr4960=) c.14908A= (p.Thr4970=) c.14824A= (p.Thr4942=) | |
| 19 | g.38586133A>C | CA405692966 | RYR1 | c.1847A>C c.3244A>C c.3216A>C n.304A>C c.14911A>C (p.Thr4971Pro) c.14896A>C (p.Thr4966Pro) c.14893A>C (p.Thr4965Pro) c.14878A>C (p.Thr4960Pro) c.14908A>C (p.Thr4970Pro) c.14824A>C (p.Thr4942Pro) | |
| 19 | g.38586133A>G | CA061791 | RYR1 | c.1847A>G c.3244A>G c.3216A>G n.304A>G c.14911A>G (p.Thr4971Ala) c.14896A>G (p.Thr4966Ala) c.14893A>G (p.Thr4965Ala) c.14878A>G (p.Thr4960Ala) c.14908A>G (p.Thr4970Ala) c.14824A>G (p.Thr4942Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38586133A>T | CA405692968 | RYR1 | c.1847A>T c.3244A>T c.3216A>T n.304A>T c.14911A>T (p.Thr4971Ser) c.14896A>T (p.Thr4966Ser) c.14893A>T (p.Thr4965Ser) c.14878A>T (p.Thr4960Ser) c.14908A>T (p.Thr4970Ser) c.14824A>T (p.Thr4942Ser) | |
| 19 | g.38586134C>A | CA405692973 | RYR1 | c.1848C>A c.3245C>A c.3217C>A n.305C>A c.14912C>A (p.Thr4971Lys) c.14897C>A (p.Thr4966Lys) c.14894C>A (p.Thr4965Lys) c.14879C>A (p.Thr4960Lys) c.14909C>A (p.Thr4970Lys) c.14825C>A (p.Thr4942Lys) | |
| 19 | g.38586134C= | CA2335095566 | RYR1 | c.1848C= c.3245C= c.3217C= n.305C= c.14912C= (p.Thr4971=) c.14897C= (p.Thr4966=) c.14894C= (p.Thr4965=) c.14879C= (p.Thr4960=) c.14909C= (p.Thr4970=) c.14825C= (p.Thr4942=) | |
| 19 | g.38586134C>G | CA405692976 | RYR1 | c.1848C>G c.3245C>G c.3217C>G n.305C>G c.14912C>G (p.Thr4971Arg) c.14897C>G (p.Thr4966Arg) c.14894C>G (p.Thr4965Arg) c.14879C>G (p.Thr4960Arg) c.14909C>G (p.Thr4970Arg) c.14825C>G (p.Thr4942Arg) | |
| 19 | g.38586134C>T | CA061796 | RYR1 | c.1848C>T c.3245C>T c.3217C>T n.305C>T c.14912C>T (p.Thr4971Met) c.14897C>T (p.Thr4966Met) c.14894C>T (p.Thr4965Met) c.14879C>T (p.Thr4960Met) c.14909C>T (p.Thr4970Met) c.14825C>T (p.Thr4942Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38586135G>A | CA061797 | RYR1 | c.1849G>A c.3246G>A c.3218G>A n.306G>A c.14913G>A (p.Thr4971=) c.14898G>A (p.Thr4966=) c.14895G>A (p.Thr4965=) c.14880G>A (p.Thr4960=) c.14910G>A (p.Thr4970=) c.14826G>A (p.Thr4942=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38586135G>C | CA507246629 | RYR1 | c.1849G>C c.3246G>C c.3218G>C n.306G>C c.14913G>C (p.Thr4971=) c.14898G>C (p.Thr4966=) c.14895G>C (p.Thr4965=) c.14880G>C (p.Thr4960=) c.14910G>C (p.Thr4970=) c.14826G>C (p.Thr4942=) | ClinVar |
| 19 | g.38586135G= | CA2335095567 | RYR1 | c.1849G= c.3246G= c.3218G= n.306G= c.14913G= (p.Thr4971=) c.14898G= (p.Thr4966=) c.14895G= (p.Thr4965=) c.14880G= (p.Thr4960=) c.14910G= (p.Thr4970=) c.14826G= (p.Thr4942=) | |
| 19 | g.38586135G>T | CA507246630 | RYR1 | c.1849G>T c.3246G>T c.3218G>T n.306G>T c.14913G>T (p.Thr4971=) c.14898G>T (p.Thr4966=) c.14895G>T (p.Thr4965=) c.14880G>T (p.Thr4960=) c.14910G>T (p.Thr4970=) c.14826G>T (p.Thr4942=) | |
| 19 | g.38586136del | CA081349 | RYR1 | c.1850del c.3247del c.3219del n.307del c.14914del (p.Thr4972HisfsTer22) c.14899del (p.Thr4967HisfsTer22) c.14896del (p.Thr4966HisfsTer22) c.14881del (p.Thr4961HisfsTer22) c.14911del (p.Thr4971HisfsTer22) c.14827del (p.Thr4943HisfsTer22) | |
| 19 | g.38586136A= | CA2335095568 | RYR1 | c.1850A= c.3247A= c.3219A= n.307A= c.14914A= (p.Thr4972=) c.14899A= (p.Thr4967=) c.14896A= (p.Thr4966=) c.14881A= (p.Thr4961=) c.14911A= (p.Thr4971=) c.14827A= (p.Thr4943=) | |
| 19 | g.38586136A>C | CA405692983 | RYR1 | c.1850A>C c.3247A>C c.3219A>C n.307A>C c.14914A>C (p.Thr4972Pro) c.14899A>C (p.Thr4967Pro) c.14896A>C (p.Thr4966Pro) c.14881A>C (p.Thr4961Pro) c.14911A>C (p.Thr4971Pro) c.14827A>C (p.Thr4943Pro) | |
| 19 | g.38586136A>G | CA081365 | RYR1 | c.1850A>G c.3247A>G c.3219A>G n.307A>G c.14914A>G (p.Thr4972Ala) c.14899A>G (p.Thr4967Ala) c.14896A>G (p.Thr4966Ala) c.14881A>G (p.Thr4961Ala) c.14911A>G (p.Thr4971Ala) c.14827A>G (p.Thr4943Ala) | gnomAD v4 |
| 19 | g.38586136A>T | CA061802 | RYR1 | c.1850A>T c.3247A>T c.3219A>T n.307A>T c.14914A>T (p.Thr4972Ser) c.14899A>T (p.Thr4967Ser) c.14896A>T (p.Thr4966Ser) c.14881A>T (p.Thr4961Ser) c.14911A>T (p.Thr4971Ser) c.14827A>T (p.Thr4943Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38586137C>A | CA405692992 | RYR1 | c.1851C>A c.3248C>A c.3220C>A n.308C>A c.14915C>A (p.Thr4972Lys) c.14900C>A (p.Thr4967Lys) c.14897C>A (p.Thr4966Lys) c.14882C>A (p.Thr4961Lys) c.14912C>A (p.Thr4971Lys) c.14828C>A (p.Thr4943Lys) | |
| 19 | g.38586137C= | CA2335095569 | RYR1 | c.1851C= c.3248C= c.3220C= n.308C= c.14915C= (p.Thr4972=) c.14900C= (p.Thr4967=) c.14897C= (p.Thr4966=) c.14882C= (p.Thr4961=) c.14912C= (p.Thr4971=) c.14828C= (p.Thr4943=) | |
| 19 | g.38586137C>G | CA405692994 | RYR1 | c.1851C>G c.3248C>G c.3220C>G n.308C>G c.14915C>G (p.Thr4972Arg) c.14900C>G (p.Thr4967Arg) c.14897C>G (p.Thr4966Arg) c.14882C>G (p.Thr4961Arg) c.14912C>G (p.Thr4971Arg) c.14828C>G (p.Thr4943Arg) | |
| 19 | g.38586137C>T | CA061806 | RYR1 | c.1851C>T c.3248C>T c.3220C>T n.308C>T c.14915C>T (p.Thr4972Ile) c.14900C>T (p.Thr4967Ile) c.14897C>T (p.Thr4966Ile) c.14882C>T (p.Thr4961Ile) c.14912C>T (p.Thr4971Ile) c.14828C>T (p.Thr4943Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38586138A>C | CA507246634 | RYR1 | c.1852A>C c.3249A>C c.3221A>C n.309A>C c.14916A>C (p.Thr4972=) c.14901A>C (p.Thr4967=) c.14898A>C (p.Thr4966=) c.14883A>C (p.Thr4961=) c.14913A>C (p.Thr4971=) c.14829A>C (p.Thr4943=) | |
| 19 | g.38586138A>G | CA507246636 | RYR1 | c.1852A>G c.3249A>G c.3221A>G n.309A>G c.14916A>G (p.Thr4972=) c.14901A>G (p.Thr4967=) c.14898A>G (p.Thr4966=) c.14883A>G (p.Thr4961=) c.14913A>G (p.Thr4971=) c.14829A>G (p.Thr4943=) | gnomAD v4 |
| 19 | g.38586138A>T | CA507246635 | RYR1 | c.1852A>T c.3249A>T c.3221A>T n.309A>T c.14916A>T (p.Thr4972=) c.14901A>T (p.Thr4967=) c.14898A>T (p.Thr4966=) c.14883A>T (p.Thr4961=) c.14913A>T (p.Thr4971=) c.14829A>T (p.Thr4943=) | |
| 19 | g.38586139C>A | CA405693004 | RYR1 | c.1853C>A c.3250C>A c.3222C>A n.310C>A c.14917C>A (p.Pro4973Thr) c.14902C>A (p.Pro4968Thr) c.14899C>A (p.Pro4967Thr) c.14884C>A (p.Pro4962Thr) c.14914C>A (p.Pro4972Thr) c.14830C>A (p.Pro4944Thr) | |
| 19 | g.38586139C= | CA2335095570 | RYR1 | c.1853C= c.3250C= c.3222C= n.310C= c.14917C= (p.Pro4973=) c.14902C= (p.Pro4968=) c.14899C= (p.Pro4967=) c.14884C= (p.Pro4962=) c.14914C= (p.Pro4972=) c.14830C= (p.Pro4944=) | |
| 19 | g.38586139C>G | CA405693003 | RYR1 | c.1853C>G c.3250C>G c.3222C>G n.310C>G c.14917C>G (p.Pro4973Ala) c.14902C>G (p.Pro4968Ala) c.14899C>G (p.Pro4967Ala) c.14884C>G (p.Pro4962Ala) c.14914C>G (p.Pro4972Ala) c.14830C>G (p.Pro4944Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38586139C>T | CA081367 | RYR1 | c.1853C>T c.3250C>T c.3222C>T n.310C>T c.14917C>T (p.Pro4973Ser) c.14902C>T (p.Pro4968Ser) c.14899C>T (p.Pro4967Ser) c.14884C>T (p.Pro4962Ser) c.14914C>T (p.Pro4972Ser) c.14830C>T (p.Pro4944Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38586140C>A | CA405693007 | RYR1 | c.1854C>A c.3251C>A c.3223C>A n.311C>A c.14918C>A (p.Pro4973Gln) c.14903C>A (p.Pro4968Gln) c.14900C>A (p.Pro4967Gln) c.14885C>A (p.Pro4962Gln) c.14915C>A (p.Pro4972Gln) c.14831C>A (p.Pro4944Gln) | |
| 19 | g.38586140C= | CA2335095571 | RYR1 | c.1854C= c.3251C= c.3223C= n.311C= c.14918C= (p.Pro4973=) c.14903C= (p.Pro4968=) c.14900C= (p.Pro4967=) c.14885C= (p.Pro4962=) c.14915C= (p.Pro4972=) c.14831C= (p.Pro4944=) | |
| 19 | g.38586140C>G | CA405693009 | RYR1 | c.1854C>G c.3251C>G c.3223C>G n.311C>G c.14918C>G (p.Pro4973Arg) c.14903C>G (p.Pro4968Arg) c.14900C>G (p.Pro4967Arg) c.14885C>G (p.Pro4962Arg) c.14915C>G (p.Pro4972Arg) c.14831C>G (p.Pro4944Arg) | |
| 19 | g.38586140C>T | CA024276 | RYR1 | c.1854C>T c.3251C>T c.3223C>T n.311C>T c.14918C>T (p.Pro4973Leu) c.14903C>T (p.Pro4968Leu) c.14900C>T (p.Pro4967Leu) c.14885C>T (p.Pro4962Leu) c.14915C>T (p.Pro4972Leu) c.14831C>T (p.Pro4944Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38586141G>A | CA061814 | RYR1 | c.1855G>A c.3252G>A c.3224G>A n.312G>A c.14919G>A (p.Pro4973=) c.14904G>A (p.Pro4968=) c.14901G>A (p.Pro4967=) c.14886G>A (p.Pro4962=) c.14916G>A (p.Pro4972=) c.14832G>A (p.Pro4944=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38586141G>C | CA507246637 | RYR1 | c.1855G>C c.3252G>C c.3224G>C n.312G>C c.14919G>C (p.Pro4973=) c.14904G>C (p.Pro4968=) c.14901G>C (p.Pro4967=) c.14886G>C (p.Pro4962=) c.14916G>C (p.Pro4972=) c.14832G>C (p.Pro4944=) | |
| 19 | g.38586141G= | CA2335095572 | RYR1 | c.1855G= c.3252G= c.3224G= n.312G= c.14919G= (p.Pro4973=) c.14904G= (p.Pro4968=) c.14901G= (p.Pro4967=) c.14886G= (p.Pro4962=) c.14916G= (p.Pro4972=) c.14832G= (p.Pro4944=) | |
| 19 | g.38586141G>T | CA507246638 | RYR1 | c.1855G>T c.3252G>T c.3224G>T n.312G>T c.14919G>T (p.Pro4973=) c.14904G>T (p.Pro4968=) c.14901G>T (p.Pro4967=) c.14886G>T (p.Pro4962=) c.14916G>T (p.Pro4972=) c.14832G>T (p.Pro4944=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38586142C>A | CA405693018 | RYR1 | c.1856C>A c.3253C>A c.3225C>A n.313C>A c.14920C>A (p.His4974Asn) c.14905C>A (p.His4969Asn) c.14902C>A (p.His4968Asn) c.14887C>A (p.His4963Asn) c.14917C>A (p.His4973Asn) c.14833C>A (p.His4945Asn) | |
| 19 | g.38586142C>G | CA405693021 | RYR1 | c.1856C>G c.3253C>G c.3225C>G n.313C>G c.14920C>G (p.His4974Asp) c.14905C>G (p.His4969Asp) c.14902C>G (p.His4968Asp) c.14887C>G (p.His4963Asp) c.14917C>G (p.His4973Asp) c.14833C>G (p.His4945Asp) | |
| 19 | g.38586142C>T | CA081368 | RYR1 | c.1856C>T c.3253C>T c.3225C>T n.313C>T c.14920C>T (p.His4974Tyr) c.14905C>T (p.His4969Tyr) c.14902C>T (p.His4968Tyr) c.14887C>T (p.His4963Tyr) c.14917C>T (p.His4973Tyr) c.14833C>T (p.His4945Tyr) | gnomAD v4 |
| 19 | g.38586143A= | CA2335095573 | RYR1 | c.1857A= c.3254A= c.3226A= n.314A= c.14921A= (p.His4974=) c.14906A= (p.His4969=) c.14903A= (p.His4968=) c.14888A= (p.His4963=) c.14918A= (p.His4973=) c.14834A= (p.His4945=) | |
| 19 | g.38586143A>C | CA405693028 | RYR1 | c.1857A>C c.3254A>C c.3226A>C n.314A>C c.14921A>C (p.His4974Pro) c.14906A>C (p.His4969Pro) c.14903A>C (p.His4968Pro) c.14888A>C (p.His4963Pro) c.14918A>C (p.His4973Pro) c.14834A>C (p.His4945Pro) | |
| 19 | g.38586143A>G | CA061818 | RYR1 | c.1857A>G c.3254A>G c.3226A>G n.314A>G c.14921A>G (p.His4974Arg) c.14906A>G (p.His4969Arg) c.14903A>G (p.His4968Arg) c.14888A>G (p.His4963Arg) c.14918A>G (p.His4973Arg) c.14834A>G (p.His4945Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38586143A>T | CA405693032 | RYR1 | c.1857A>T c.3254A>T c.3226A>T n.314A>T c.14921A>T (p.His4974Leu) c.14906A>T (p.His4969Leu) c.14903A>T (p.His4968Leu) c.14888A>T (p.His4963Leu) c.14918A>T (p.His4973Leu) c.14834A>T (p.His4945Leu) | gnomAD v4 |
| 19 | g.38586144T>A | CA405693036 | RYR1 | c.1858T>A c.3255T>A c.3227T>A n.315T>A c.14922T>A (p.His4974Gln) c.14907T>A (p.His4969Gln) c.14904T>A (p.His4968Gln) c.14889T>A (p.His4963Gln) c.14919T>A (p.His4973Gln) c.14835T>A (p.His4945Gln) | |
| 19 | g.38586144T>C | CA507246642 | RYR1 | c.1858T>C c.3255T>C c.3227T>C n.315T>C c.14922T>C (p.His4974=) c.14907T>C (p.His4969=) c.14904T>C (p.His4968=) c.14889T>C (p.His4963=) c.14919T>C (p.His4973=) c.14835T>C (p.His4945=) | gnomAD v4 |
| 19 | g.38586144T>G | CA405693042 | RYR1 | c.1858T>G c.3255T>G c.3227T>G n.315T>G c.14922T>G (p.His4974Gln) c.14907T>G (p.His4969Gln) c.14904T>G (p.His4968Gln) c.14889T>G (p.His4963Gln) c.14919T>G (p.His4973Gln) c.14835T>G (p.His4945Gln) | |
| 19 | g.38586145G>A | CA405693052 | RYR1 | c.1859G>A c.3256G>A c.3228G>A n.316G>A c.14923G>A (p.Gly4975Ser) c.14908G>A (p.Gly4970Ser) c.14905G>A (p.Gly4969Ser) c.14890G>A (p.Gly4964Ser) c.14920G>A (p.Gly4974Ser) c.14836G>A (p.Gly4946Ser) | |
| 19 | g.38586145G>C | CA405693059 | RYR1 | c.1859G>C c.3256G>C c.3228G>C n.316G>C c.14923G>C (p.Gly4975Arg) c.14908G>C (p.Gly4970Arg) c.14905G>C (p.Gly4969Arg) c.14890G>C (p.Gly4964Arg) c.14920G>C (p.Gly4974Arg) c.14836G>C (p.Gly4946Arg) | |
| 19 | g.38586145G>T | CA405693048 | RYR1 | c.1859G>T c.3256G>T c.3228G>T n.316G>T c.14923G>T (p.Gly4975Cys) c.14908G>T (p.Gly4970Cys) c.14905G>T (p.Gly4969Cys) c.14890G>T (p.Gly4964Cys) c.14920G>T (p.Gly4974Cys) c.14836G>T (p.Gly4946Cys) | COSMIC |
| 19 | g.38586146G>A | CA405693060 | RYR1 | c.1860G>A c.3257G>A c.3229G>A n.317G>A c.14924G>A (p.Gly4975Asp) c.14909G>A (p.Gly4970Asp) c.14906G>A (p.Gly4969Asp) c.14891G>A (p.Gly4964Asp) c.14921G>A (p.Gly4974Asp) c.14837G>A (p.Gly4946Asp) | gnomAD v4 |
| 19 | g.38586146G>C | CA405693063 | RYR1 | c.1860G>C c.3257G>C c.3229G>C n.317G>C c.14924G>C (p.Gly4975Ala) c.14909G>C (p.Gly4970Ala) c.14906G>C (p.Gly4969Ala) c.14891G>C (p.Gly4964Ala) c.14921G>C (p.Gly4974Ala) c.14837G>C (p.Gly4946Ala) | |
| 19 | g.38586146G>T | CA405693066 | RYR1 | c.1860G>T c.3257G>T c.3229G>T n.317G>T c.14924G>T (p.Gly4975Val) c.14909G>T (p.Gly4970Val) c.14906G>T (p.Gly4969Val) c.14891G>T (p.Gly4964Val) c.14921G>T (p.Gly4974Val) c.14837G>T (p.Gly4946Val) | |
| 19 | g.38586147C>A | CA507246643 | RYR1 | c.1861C>A c.3258C>A c.3230C>A n.318C>A c.14925C>A (p.Gly4975=) c.14910C>A (p.Gly4970=) c.14907C>A (p.Gly4969=) c.14892C>A (p.Gly4964=) c.14922C>A (p.Gly4974=) c.14838C>A (p.Gly4946=) | |
| 19 | g.38586147C= | CA2335095574 | RYR1 | c.1861C= c.3258C= c.3230C= n.318C= c.14925C= (p.Gly4975=) c.14910C= (p.Gly4970=) c.14907C= (p.Gly4969=) c.14892C= (p.Gly4964=) c.14922C= (p.Gly4974=) c.14838C= (p.Gly4946=) | |
| 19 | g.38586147C>G | CA507246644 | RYR1 | c.1861C>G c.3258C>G c.3230C>G n.318C>G c.14925C>G (p.Gly4975=) c.14910C>G (p.Gly4970=) c.14907C>G (p.Gly4969=) c.14892C>G (p.Gly4964=) c.14922C>G (p.Gly4974=) c.14838C>G (p.Gly4946=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38586147C>T | CA507246645 | RYR1 | c.1861C>T c.3258C>T c.3230C>T n.318C>T c.14925C>T (p.Gly4975=) c.14910C>T (p.Gly4970=) c.14907C>T (p.Gly4969=) c.14892C>T (p.Gly4964=) c.14922C>T (p.Gly4974=) c.14838C>T (p.Gly4946=) | |
| 19 | g.38586148T>A | CA405693070 | RYR1 | c.1862T>A c.3259T>A c.3231T>A n.319T>A c.14926T>A (p.Phe4976Ile) c.14911T>A (p.Phe4971Ile) c.14908T>A (p.Phe4970Ile) c.14893T>A (p.Phe4965Ile) c.14923T>A (p.Phe4975Ile) c.14839T>A (p.Phe4947Ile) | |
| 19 | g.38586148T>C | CA405693071 | RYR1 | c.1862T>C c.3259T>C c.3231T>C n.319T>C c.14926T>C (p.Phe4976Leu) c.14911T>C (p.Phe4971Leu) c.14908T>C (p.Phe4970Leu) c.14893T>C (p.Phe4965Leu) c.14923T>C (p.Phe4975Leu) c.14839T>C (p.Phe4947Leu) | |
| 19 | g.38586148T>G | CA405693072 | RYR1 | c.1862T>G c.3259T>G c.3231T>G n.319T>G c.14926T>G (p.Phe4976Val) c.14911T>G (p.Phe4971Val) c.14908T>G (p.Phe4970Val) c.14893T>G (p.Phe4965Val) c.14923T>G (p.Phe4975Val) c.14839T>G (p.Phe4947Val) | |
| 19 | g.38586149T>A | CA405693077 | RYR1 | c.1863T>A c.3260T>A c.3232T>A n.320T>A c.14927T>A (p.Phe4976Tyr) c.14912T>A (p.Phe4971Tyr) c.14909T>A (p.Phe4970Tyr) c.14894T>A (p.Phe4965Tyr) c.14924T>A (p.Phe4975Tyr) c.14840T>A (p.Phe4947Tyr) | |
| 19 | g.38586149T>C | CA405693073 | RYR1 | c.1863T>C c.3260T>C c.3232T>C n.320T>C c.14927T>C (p.Phe4976Ser) c.14912T>C (p.Phe4971Ser) c.14909T>C (p.Phe4970Ser) c.14894T>C (p.Phe4965Ser) c.14924T>C (p.Phe4975Ser) c.14840T>C (p.Phe4947Ser) | COSMIC |
| 19 | g.38586149T>G | CA405693075 | RYR1 | c.1863T>G c.3260T>G c.3232T>G n.320T>G c.14927T>G (p.Phe4976Cys) c.14912T>G (p.Phe4971Cys) c.14909T>G (p.Phe4970Cys) c.14894T>G (p.Phe4965Cys) c.14924T>G (p.Phe4975Cys) c.14840T>G (p.Phe4947Cys) | |
| 19 | g.38586150C>A | CA308126717 | RYR1 | c.1864C>A c.3261C>A c.3233C>A n.321C>A c.14928C>A (p.Phe4976Leu) c.14913C>A (p.Phe4971Leu) c.14910C>A (p.Phe4970Leu) c.14895C>A (p.Phe4965Leu) c.14925C>A (p.Phe4975Leu) c.14841C>A (p.Phe4947Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38586150C= | CA2335095575 | RYR1 | c.1864C= c.3261C= c.3233C= n.321C= c.14928C= (p.Phe4976=) c.14913C= (p.Phe4971=) c.14910C= (p.Phe4970=) c.14895C= (p.Phe4965=) c.14925C= (p.Phe4975=) c.14841C= (p.Phe4947=) | |
| 19 | g.38586150C>G | CA024278 | RYR1 | c.1864C>G c.3261C>G c.3233C>G n.321C>G c.14928C>G (p.Phe4976Leu) c.14913C>G (p.Phe4971Leu) c.14910C>G (p.Phe4970Leu) c.14895C>G (p.Phe4965Leu) c.14925C>G (p.Phe4975Leu) c.14841C>G (p.Phe4947Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38586150C>T | CA507246649 | RYR1 | c.1864C>T c.3261C>T c.3233C>T n.321C>T c.14928C>T (p.Phe4976=) c.14913C>T (p.Phe4971=) c.14910C>T (p.Phe4970=) c.14895C>T (p.Phe4965=) c.14925C>T (p.Phe4975=) c.14841C>T (p.Phe4947=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38586151G>A | CA405693081 | RYR1 | c.1865G>A c.3262G>A c.3234G>A n.322G>A c.14929G>A (p.Glu4977Lys) c.14914G>A (p.Glu4972Lys) c.14911G>A (p.Glu4971Lys) c.14896G>A (p.Glu4966Lys) c.14926G>A (p.Glu4976Lys) c.14842G>A (p.Glu4948Lys) | dbSNP gnomAD v4 COSMIC |
| 19 | g.38586151G>C | CA212107 | RYR1 | c.1865G>C c.3262G>C c.3234G>C n.322G>C c.14929G>C (p.Glu4977Gln) c.14914G>C (p.Glu4972Gln) c.14911G>C (p.Glu4971Gln) c.14896G>C (p.Glu4966Gln) c.14926G>C (p.Glu4976Gln) c.14842G>C (p.Glu4948Gln) | ClinVar dbSNP |
| 19 | g.38586151G= | CA2335095576 | RYR1 | c.1865G= c.3262G= c.3234G= n.322G= c.14929G= (p.Glu4977=) c.14914G= (p.Glu4972=) c.14911G= (p.Glu4971=) c.14896G= (p.Glu4966=) c.14926G= (p.Glu4976=) c.14842G= (p.Glu4948=) | |
| 19 | g.38586151G>T | CA405693085 | RYR1 | c.1865G>T c.3262G>T c.3234G>T n.322G>T c.14929G>T (p.Glu4977Ter) c.14914G>T (p.Glu4972Ter) c.14911G>T (p.Glu4971Ter) c.14896G>T (p.Glu4966Ter) c.14926G>T (p.Glu4976Ter) c.14842G>T (p.Glu4948Ter) | |
| 19 | g.38586152A>C | CA405693100 | RYR1 | c.1866A>C c.3263A>C c.3235A>C n.323A>C c.14930A>C (p.Glu4977Ala) c.14915A>C (p.Glu4972Ala) c.14912A>C (p.Glu4971Ala) c.14897A>C (p.Glu4966Ala) c.14927A>C (p.Glu4976Ala) c.14843A>C (p.Glu4948Ala) | |
| 19 | g.38586152A>G | CA405693104 | RYR1 | c.1866A>G c.3263A>G c.3235A>G n.323A>G c.14930A>G (p.Glu4977Gly) c.14915A>G (p.Glu4972Gly) c.14912A>G (p.Glu4971Gly) c.14897A>G (p.Glu4966Gly) c.14927A>G (p.Glu4976Gly) c.14843A>G (p.Glu4948Gly) | |
| 19 | g.38586152A>T | CA405693103 | RYR1 | c.1866A>T c.3263A>T c.3235A>T n.323A>T c.14930A>T (p.Glu4977Val) c.14915A>T (p.Glu4972Val) c.14912A>T (p.Glu4971Val) c.14897A>T (p.Glu4966Val) c.14927A>T (p.Glu4976Val) c.14843A>T (p.Glu4948Val) | |
| 19 | g.38586153G>A | CA507246650 | RYR1 | c.1867G>A c.3264G>A c.3236G>A n.324G>A c.14931G>A (p.Glu4977=) c.14916G>A (p.Glu4972=) c.14913G>A (p.Glu4971=) c.14898G>A (p.Glu4966=) c.14928G>A (p.Glu4976=) c.14844G>A (p.Glu4948=) | |
| 19 | g.38586153G>C | CA405693105 | RYR1 | c.1867G>C c.3264G>C c.3236G>C n.324G>C c.14931G>C (p.Glu4977Asp) c.14916G>C (p.Glu4972Asp) c.14913G>C (p.Glu4971Asp) c.14898G>C (p.Glu4966Asp) c.14928G>C (p.Glu4976Asp) c.14844G>C (p.Glu4948Asp) | |
| 19 | g.38586153G>T | CA405693109 | RYR1 | c.1867G>T c.3264G>T c.3236G>T n.324G>T c.14931G>T (p.Glu4977Asp) c.14916G>T (p.Glu4972Asp) c.14913G>T (p.Glu4971Asp) c.14898G>T (p.Glu4966Asp) c.14928G>T (p.Glu4976Asp) c.14844G>T (p.Glu4948Asp) | COSMIC |
| 19 | g.38586154A= | CA2335095577 | RYR1 | c.1868A= c.3265A= c.3237A= n.325A= c.14932A= (p.Thr4978=) c.14917A= (p.Thr4973=) c.14914A= (p.Thr4972=) c.14899A= (p.Thr4967=) c.14929A= (p.Thr4977=) c.14845A= (p.Thr4949=) | |
| 19 | g.38586154A>C | CA405693120 | RYR1 | c.1868A>C c.3265A>C c.3237A>C n.325A>C c.14932A>C (p.Thr4978Pro) c.14917A>C (p.Thr4973Pro) c.14914A>C (p.Thr4972Pro) c.14899A>C (p.Thr4967Pro) c.14929A>C (p.Thr4977Pro) c.14845A>C (p.Thr4949Pro) | |
| 19 | g.38586154A>G | CA061827 | RYR1 | c.1868A>G c.3265A>G c.3237A>G n.325A>G c.14932A>G (p.Thr4978Ala) c.14917A>G (p.Thr4973Ala) c.14914A>G (p.Thr4972Ala) c.14899A>G (p.Thr4967Ala) c.14929A>G (p.Thr4977Ala) c.14845A>G (p.Thr4949Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38586154A>T | CA405693128 | RYR1 | c.1868A>T c.3265A>T c.3237A>T n.325A>T c.14932A>T (p.Thr4978Ser) c.14917A>T (p.Thr4973Ser) c.14914A>T (p.Thr4972Ser) c.14899A>T (p.Thr4967Ser) c.14929A>T (p.Thr4977Ser) c.14845A>T (p.Thr4949Ser) | |
| 19 | g.38586155C>A | CA405693130 | RYR1 | c.1869C>A c.3266C>A c.3238C>A n.326C>A c.14933C>A (p.Thr4978Asn) c.14918C>A (p.Thr4973Asn) c.14915C>A (p.Thr4972Asn) c.14900C>A (p.Thr4967Asn) c.14930C>A (p.Thr4977Asn) c.14846C>A (p.Thr4949Asn) | |
| 19 | g.38586155C>G | CA405693131 | RYR1 | c.1869C>G c.3266C>G c.3238C>G n.326C>G c.14933C>G (p.Thr4978Ser) c.14918C>G (p.Thr4973Ser) c.14915C>G (p.Thr4972Ser) c.14900C>G (p.Thr4967Ser) c.14930C>G (p.Thr4977Ser) c.14846C>G (p.Thr4949Ser) | |
| 19 | g.38586155C>T | CA405693133 | RYR1 | c.1869C>T c.3266C>T c.3238C>T n.326C>T c.14933C>T (p.Thr4978Ile) c.14918C>T (p.Thr4973Ile) c.14915C>T (p.Thr4972Ile) c.14900C>T (p.Thr4967Ile) c.14930C>T (p.Thr4977Ile) c.14846C>T (p.Thr4949Ile) | |
| 19 | g.38586156_38586157del | CA2584911437 | RYR1 | c.1870_1871del c.3267_3268del c.3239_3240del n.327_328del c.14934_14935del (p.Thr4980AlafsTer21) c.14919_14920del (p.Thr4975AlafsTer21) c.14916_14917del (p.Thr4974AlafsTer21) c.14901_14902del (p.Thr4969AlafsTer21) c.14931_14932del (p.Thr4979AlafsTer21) c.14847_14848del (p.Thr4951AlafsTer21) | gnomAD v4 |
| 19 | g.38586156T>A | CA061832 | RYR1 | c.1870T>A c.3267T>A c.3239T>A n.327T>A c.14934T>A (p.Thr4978=) c.14919T>A (p.Thr4973=) c.14916T>A (p.Thr4972=) c.14901T>A (p.Thr4967=) c.14931T>A (p.Thr4977=) c.14847T>A (p.Thr4949=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38586156T>C | CA507246651 | RYR1 | c.1870T>C c.3267T>C c.3239T>C n.327T>C c.14934T>C (p.Thr4978=) c.14919T>C (p.Thr4973=) c.14916T>C (p.Thr4972=) c.14901T>C (p.Thr4967=) c.14931T>C (p.Thr4977=) c.14847T>C (p.Thr4949=) | |
| 19 | g.38586156T>G | CA507246652 | RYR1 | c.1870T>G c.3267T>G c.3239T>G n.327T>G c.14934T>G (p.Thr4978=) c.14919T>G (p.Thr4973=) c.14916T>G (p.Thr4972=) c.14901T>G (p.Thr4967=) c.14931T>G (p.Thr4977=) c.14847T>G (p.Thr4949=) | |
| 19 | g.38586156T= | CA2335095578 | RYR1 | c.1870T= c.3267T= c.3239T= n.327T= c.14934T= (p.Thr4978=) c.14919T= (p.Thr4973=) c.14916T= (p.Thr4972=) c.14901T= (p.Thr4967=) c.14931T= (p.Thr4977=) c.14847T= (p.Thr4949=) | |
| 19 | g.38586156_38586158delinsTCA | CA2335095579 | RYR1 | c.1870_1872delinsTCA c.3267_3269delinsTCA c.3239_3241delinsTCA n.327_329delinsTCA c.14934_14936delinsTCA (p.Thr4978=) c.14919_14921delinsTCA (p.Thr4973=) c.14916_14918delinsTCA (p.Thr4972=) c.14901_14903delinsTCA (p.Thr4967=) c.14931_14933delinsTCA (p.Thr4977=) c.14847_14849delinsTCA (p.Thr4949=) | |
| 19 | g.38586157C>A | CA405693148 | RYR1 | c.1871C>A c.3268C>A c.3240C>A n.328C>A c.14935C>A (p.His4979Asn) c.14920C>A (p.His4974Asn) c.14917C>A (p.His4973Asn) c.14902C>A (p.His4968Asn) c.14932C>A (p.His4978Asn) c.14848C>A (p.His4950Asn) | |
| 19 | g.38586157C= | CA2335095580 | RYR1 | c.1871C= c.3268C= c.3240C= n.328C= c.14935C= (p.His4979=) c.14920C= (p.His4974=) c.14917C= (p.His4973=) c.14902C= (p.His4968=) c.14932C= (p.His4978=) c.14848C= (p.His4950=) | |
| 19 | g.38586157C>G | CA405693152 | RYR1 | c.1871C>G c.3268C>G c.3240C>G n.328C>G c.14935C>G (p.His4979Asp) c.14920C>G (p.His4974Asp) c.14917C>G (p.His4973Asp) c.14902C>G (p.His4968Asp) c.14932C>G (p.His4978Asp) c.14848C>G (p.His4950Asp) | |
| 19 | g.38586157C>T | CA405693155 | RYR1 | c.1871C>T c.3268C>T c.3240C>T n.328C>T c.14935C>T (p.His4979Tyr) c.14920C>T (p.His4974Tyr) c.14917C>T (p.His4973Tyr) c.14902C>T (p.His4968Tyr) c.14932C>T (p.His4978Tyr) c.14848C>T (p.His4950Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38586160_38586161del | CA632878118 | RYR1 | c.1874_1875del c.3271_3272del c.3243_3244del n.331_332del c.14938_14939del (p.Thr4980AlafsTer21) c.14923_14924del (p.Thr4975AlafsTer21) c.14920_14921del (p.Thr4974AlafsTer21) c.14905_14906del (p.Thr4969AlafsTer21) c.14935_14936del (p.Thr4979AlafsTer21) c.14851_14852del (p.Thr4951AlafsTer21) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38586158A>C | CA405693160 | RYR1 | c.1872A>C c.3269A>C c.3241A>C n.329A>C c.14936A>C (p.His4979Pro) c.14921A>C (p.His4974Pro) c.14918A>C (p.His4973Pro) c.14903A>C (p.His4968Pro) c.14933A>C (p.His4978Pro) c.14849A>C (p.His4950Pro) | gnomAD v4 |
| 19 | g.38586158A>G | CA405693161 | RYR1 | c.1872A>G c.3269A>G c.3241A>G n.329A>G c.14936A>G (p.His4979Arg) c.14921A>G (p.His4974Arg) c.14918A>G (p.His4973Arg) c.14903A>G (p.His4968Arg) c.14933A>G (p.His4978Arg) c.14849A>G (p.His4950Arg) | |
| 19 | g.38586158A>T | CA405693159 | RYR1 | c.1872A>T c.3269A>T c.3241A>T n.329A>T c.14936A>T (p.His4979Leu) c.14921A>T (p.His4974Leu) c.14918A>T (p.His4973Leu) c.14903A>T (p.His4968Leu) c.14933A>T (p.His4978Leu) c.14849A>T (p.His4950Leu) | |
| 19 | g.38586159C>A | CA405693163 | RYR1 | c.1873C>A c.3270C>A c.3242C>A n.330C>A c.14937C>A (p.His4979Gln) c.14922C>A (p.His4974Gln) c.14919C>A (p.His4973Gln) c.14904C>A (p.His4968Gln) c.14934C>A (p.His4978Gln) c.14850C>A (p.His4950Gln) | |
| 19 | g.38586159C>G | CA405693162 | RYR1 | c.1873C>G c.3270C>G c.3242C>G n.330C>G c.14937C>G (p.His4979Gln) c.14922C>G (p.His4974Gln) c.14919C>G (p.His4973Gln) c.14904C>G (p.His4968Gln) c.14934C>G (p.His4978Gln) c.14850C>G (p.His4950Gln) | |
| 19 | g.38586159C>T | CA507246653 | RYR1 | c.1873C>T c.3270C>T c.3242C>T n.330C>T c.14937C>T (p.His4979=) c.14922C>T (p.His4974=) c.14919C>T (p.His4973=) c.14904C>T (p.His4968=) c.14934C>T (p.His4978=) c.14850C>T (p.His4950=) | gnomAD v4 |
| 19 | g.38586160A>C | CA405693164 | RYR1 | c.1874A>C c.3271A>C c.3243A>C n.331A>C c.14938A>C (p.Thr4980Pro) c.14923A>C (p.Thr4975Pro) c.14920A>C (p.Thr4974Pro) c.14905A>C (p.Thr4969Pro) c.14935A>C (p.Thr4979Pro) c.14851A>C (p.Thr4951Pro) | |
| 19 | g.38586160A>G | CA405693165 | RYR1 | c.1874A>G c.3271A>G c.3243A>G n.331A>G c.14938A>G (p.Thr4980Ala) c.14923A>G (p.Thr4975Ala) c.14920A>G (p.Thr4974Ala) c.14905A>G (p.Thr4969Ala) c.14935A>G (p.Thr4979Ala) c.14851A>G (p.Thr4951Ala) | |
| 19 | g.38586160A>T | CA405693168 | RYR1 | c.1874A>T c.3271A>T c.3243A>T n.331A>T c.14938A>T (p.Thr4980Ser) c.14923A>T (p.Thr4975Ser) c.14920A>T (p.Thr4974Ser) c.14905A>T (p.Thr4969Ser) c.14935A>T (p.Thr4979Ser) c.14851A>T (p.Thr4951Ser) |