Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.119136554A= | CA1488799990 | MYOZ2 | c.29A= (p.Gln10=) | |
4 | g.119136554A>C | CA238413 | MYOZ2 | c.29A>C (p.Gln10Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.119136554A>G | CA137040 | MYOZ2 | c.29A>G (p.Gln10Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.119136554A>T | CA358203242 | MYOZ2 | c.29A>T (p.Gln10Leu) | |
4 | g.119136555G>A | CA441000552 | MYOZ2 | c.30G>A (p.Gln10=) | |
4 | g.119136555G>C | CA358203243 | MYOZ2 | c.30G>C (p.Gln10His) | |
4 | g.119136555G>T | CA358203244 | MYOZ2 | c.30G>T (p.Gln10His) | |
4 | g.119136556A>C | CA441000554 | MYOZ2 | c.31A>C (p.Arg11=) | |
4 | g.119136556A>G | CA358203246 | MYOZ2 | c.31A>G (p.Arg11Gly) | |
4 | g.119136556A>T | CA358203245 | MYOZ2 | c.31A>T (p.Arg11Ter) | |
4 | g.119136557G>A | CA358203247 | MYOZ2 | c.32G>A (p.Arg11Lys) | |
4 | g.119136557G>C | CA358203248 | MYOZ2 | c.32G>C (p.Arg11Thr) | COSMIC |
4 | g.119136557G>T | CA358203249 | MYOZ2 | c.32G>T (p.Arg11Ile) | |
4 | g.119136558A>C | CA358203250 | MYOZ2 | c.33A>C (p.Arg11Ser) | |
4 | g.119136558A>G | CA441000561 | MYOZ2 | c.33A>G (p.Arg11=) | |
4 | g.119136558A>T | CA358203251 | MYOZ2 | c.33A>T (p.Arg11Ser) | |
4 | g.119136559A>C | CA358203252 | MYOZ2 | c.34A>C (p.Lys12Gln) | |
4 | g.119136559A>G | CA358203253 | MYOZ2 | c.34A>G (p.Lys12Glu) | |
4 | g.119136559A>T | CA358203254 | MYOZ2 | c.34A>T (p.Lys12Ter) | |
4 | g.119136560A>C | CA358203256 | MYOZ2 | c.35A>C (p.Lys12Thr) | |
4 | g.119136560A>G | CA358203257 | MYOZ2 | c.35A>G (p.Lys12Arg) | |
4 | g.119136560A>T | CA358203258 | MYOZ2 | c.35A>T (p.Lys12Ile) | |
4 | g.119136561A= | CA1488799991 | MYOZ2 | c.36A= (p.Lys12=) | |
4 | g.119136561A>C | CA104969015 | MYOZ2 | c.36A>C (p.Lys12Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.119136561A>G | CA3058521 | MYOZ2 | c.36A>G (p.Lys12=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.119136561A>T | CA358203259 | MYOZ2 | c.36A>T (p.Lys12Asn) | |
4 | g.119136562C>A | CA358203262 | MYOZ2 | c.37C>A (p.Gln13Lys) | |
4 | g.119136562C>G | CA358203263 | MYOZ2 | c.37C>G (p.Gln13Glu) | gnomAD v4 |
4 | g.119136562C>T | CA358203264 | MYOZ2 | c.37C>T (p.Gln13Ter) | gnomAD v4 |
4 | g.119136563A= | CA1488799992 | MYOZ2 | c.38A= (p.Gln13=) | |
4 | g.119136563A>C | CA358203265 | MYOZ2 | c.38A>C (p.Gln13Pro) | |
4 | g.119136563A>G | CA358203266 | MYOZ2 | c.38A>G (p.Gln13Arg) | dbSNP |
4 | g.119136563A>T | CA358203267 | MYOZ2 | c.38A>T (p.Gln13Leu) | |
4 | g.119136564G>A | CA3058522 | MYOZ2 | c.39G>A (p.Gln13=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.119136564G>C | CA358203268 | MYOZ2 | c.39G>C (p.Gln13His) | |
4 | g.119136564G= | CA1488799993 | MYOZ2 | c.39G= (p.Gln13=) | |
4 | g.119136564G>T | CA3058523 | MYOZ2 | c.39G>T (p.Gln13His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.119136565C>A | CA358203269 | MYOZ2 | c.40C>A (p.Gln14Lys) | |
4 | g.119136565C>G | CA358203270 | MYOZ2 | c.40C>G (p.Gln14Glu) | |
4 | g.119136565C>T | CA358203271 | MYOZ2 | c.40C>T (p.Gln14Ter) | gnomAD v4 |
4 | g.119136566A>C | CA358203273 | MYOZ2 | c.41A>C (p.Gln14Pro) | |
4 | g.119136566A>G | CA358203274 | MYOZ2 | c.41A>G (p.Gln14Arg) | |
4 | g.119136566A>T | CA358203272 | MYOZ2 | c.41A>T (p.Gln14Leu) | |
4 | g.119136567A= | CA1488799994 | MYOZ2 | c.42A= (p.Gln14=) | |
4 | g.119136567A>C | CA358203275 | MYOZ2 | c.42A>C (p.Gln14His) | |
4 | g.119136567A>G | CA441000601 | MYOZ2 | c.42A>G (p.Gln14=) | dbSNP |
4 | g.119136567A>T | CA358203276 | MYOZ2 | c.42A>T (p.Gln14His) | |
4 | g.119136568G>A | CA358203277 | MYOZ2 | c.43G>A (p.Ala15Thr) | gnomAD v4 |
4 | g.119136568G>C | CA358203278 | MYOZ2 | c.43G>C (p.Ala15Pro) | |
4 | g.119136568G>T | CA358203279 | MYOZ2 | c.43G>T (p.Ala15Ser) |