| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38446714dup | CA069608 | RYR1 | c.746dup (p.Ala250SerfsTer?) n.829dup | dbSNP ExAC gnomAD v2 |
| 19 | g.38446710G>A | CA024797 | RYR1 | c.742G>A (p.Gly248Arg) n.825G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.38446710G>C | CA024799 | RYR1 | c.742G>C (p.Gly248Arg) n.825G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446710G= | CA2335027196 | RYR1 | c.742G= (p.Gly248=) n.825G= | |
| 19 | g.38446710G>T | CA069619 | RYR1 | c.742G>T (p.Gly248Trp) n.825G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446711G>A | CA308114409 | RYR1 | c.743G>A (p.Gly248Glu) n.826G>A | dbSNP gnomAD v4 |
| 19 | g.38446711G>C | CA405680210 | RYR1 | c.743G>C (p.Gly248Ala) n.826G>C | ClinVar dbSNP |
| 19 | g.38446711G= | CA2335027197 | RYR1 | c.743G= (p.Gly248=) n.826G= | |
| 19 | g.38446711G>T | CA405680213 | RYR1 | c.743G>T (p.Gly248Val) n.826G>T | gnomAD v4 |
| 19 | g.38446712G>A | CA507241538 | RYR1 | c.744G>A (p.Gly248=) n.827G>A | dbSNP gnomAD v4 |
| 19 | g.38446712G>C | CA507241539 | RYR1 | c.744G>C (p.Gly248=) n.827G>C | ClinVar gnomAD v4 |
| 19 | g.38446712G= | CA2335027198 | RYR1 | c.744G= (p.Gly248=) n.827G= | |
| 19 | g.38446712G>T | CA507241541 | RYR1 | c.744G>T (p.Gly248=) n.827G>T | |
| 19 | g.38446713G>A | CA405680222 | RYR1 | c.745G>A (p.Gly249Arg) n.828G>A | |
| 19 | g.38446713G>C | CA405680219 | RYR1 | c.745G>C (p.Gly249Arg) n.828G>C | |
| 19 | g.38446713G>T | CA405680216 | RYR1 | c.745G>T (p.Gly249Ter) n.828G>T | |
| 19 | g.38446714G>A | CA405680225 | RYR1 | c.746G>A (p.Gly249Glu) n.829G>A | COSMIC |
| 19 | g.38446714G>C | CA405680232 | RYR1 | c.746G>C (p.Gly249Ala) n.829G>C | |
| 19 | g.38446714G>T | CA405680230 | RYR1 | c.746G>T (p.Gly249Val) n.829G>T | |
| 19 | g.38446715A>C | CA507241542 | RYR1 | c.747A>C (p.Gly249=) n.830A>C | gnomAD v4 |
| 19 | g.38446715A>G | CA507241544 | RYR1 | c.747A>G (p.Gly249=) n.830A>G | ClinVar dbSNP |
| 19 | g.38446715A>T | CA507241546 | RYR1 | c.747A>T (p.Gly249=) n.830A>T | |
| 19 | g.38446716G>A | CA405680244 | RYR1 | c.748G>A (p.Ala250Thr) n.831G>A | |
| 19 | g.38446716G>C | CA405680245 | RYR1 | c.748G>C (p.Ala250Pro) n.831G>C | |
| 19 | g.38446716G>T | CA405680246 | RYR1 | c.748G>T (p.Ala250Ser) n.831G>T | |
| 19 | g.38446717C>A | CA405680247 | RYR1 | c.749C>A (p.Ala250Asp) n.832C>A | COSMIC |
| 19 | g.38446717C= | CA2335027199 | RYR1 | c.749C= (p.Ala250=) n.832C= | |
| 19 | g.38446717C>G | CA405680248 | RYR1 | c.749C>G (p.Ala250Gly) n.832C>G | |
| 19 | g.38446717C>T | CA405680249 | RYR1 | c.749C>T (p.Ala250Val) n.832C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446718T>A | CA507241549 | RYR1 | c.750T>A (p.Ala250=) n.833T>A | |
| 19 | g.38446718T>C | CA507241550 | RYR1 | c.750T>C (p.Ala250=) n.833T>C | dbSNP |
| 19 | g.38446718T>G | CA507241551 | RYR1 | c.750T>G (p.Ala250=) n.833T>G | |
| 19 | g.38446718T= | CA2335027200 | RYR1 | c.750T= (p.Ala250=) n.833T= | |
| 19 | g.38446719G>A | CA405680252 | RYR1 | c.751G>A (p.Val251Met) n.834G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38446719G>C | CA405680254 | RYR1 | c.751G>C (p.Val251Leu) n.834G>C | |
| 19 | g.38446719G= | CA2335027201 | RYR1 | c.751G= (p.Val251=) n.834G= | |
| 19 | g.38446719G>T | CA405680259 | RYR1 | c.751G>T (p.Val251Leu) n.834G>T | |
| 19 | g.38446720T>A | CA405680260 | RYR1 | c.752T>A (p.Val251Glu) n.835T>A | |
| 19 | g.38446720T>C | CA405680261 | RYR1 | c.752T>C (p.Val251Ala) n.835T>C | |
| 19 | g.38446720T>G | CA405680262 | RYR1 | c.752T>G (p.Val251Gly) n.835T>G | |
| 19 | g.38446721G>A | CA507241552 | RYR1 | c.753G>A (p.Val251=) n.836G>A | gnomAD v4 |
| 19 | g.38446721G>C | CA507241553 | RYR1 | c.753G>C (p.Val251=) n.836G>C | |
| 19 | g.38446721G>T | CA507241554 | RYR1 | c.753G>T (p.Val251=) n.836G>T | gnomAD v4 |
| 19 | g.38446722T>A | CA405680267 | RYR1 | c.754T>A (p.Cys252Ser) n.837T>A | |
| 19 | g.38446722T>C | CA405680263 | RYR1 | c.754T>C (p.Cys252Arg) n.837T>C | dbSNP |
| 19 | g.38446722T>G | CA405680264 | RYR1 | c.754T>G (p.Cys252Gly) n.837T>G | |
| 19 | g.38446722T= | CA2335027202 | RYR1 | c.754T= (p.Cys252=) n.837T= | |
| 19 | g.38446723G>A | CA405680268 | RYR1 | c.755G>A (p.Cys252Tyr) n.838G>A | dbSNP |
| 19 | g.38446723G>C | CA405680269 | RYR1 | c.755G>C (p.Cys252Ser) n.838G>C | |
| 19 | g.38446723G= | CA2335027203 | RYR1 | c.755G= (p.Cys252=) n.838G= |