Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.119164193T>C | CA2578177029 | MYOZ2 | c.377-18T>C (n.377-18T>C) | |
4 | g.119164196T>C | CA3058622 | MYOZ2 | c.377-15T>C (n.377-15T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.119164196T= | CA1488811840 | MYOZ2 | c.377-15T= (n.377-15T=) | |
4 | g.119164197A= | CA1488811841 | MYOZ2 | c.377-14A= (n.377-14A=) | |
4 | g.119164197A>G | CA3058623 | MYOZ2 | c.377-14A>G (n.377-14A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.119164197A>T | CA2671884434 | MYOZ2 | c.377-14A>T (n.377-14A>T) | gnomAD v4 |
4 | g.119164199A= | CA1488811842 | MYOZ2 | c.377-12A= (n.377-12A=) | |
4 | g.119164199A>G | CA3058625 | MYOZ2 | c.377-12A>G (n.377-12A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.119164204dup | CA3058624 | MYOZ2 | c.377-7dup (n.377-7dup) | dbSNP ExAC gnomAD v2 |
4 | g.119164206C= | CA1488811843 | MYOZ2 | c.377-5C= (n.377-5C=) | |
4 | g.119164206C>T | CA3058626 | MYOZ2 | c.377-5C>T (n.377-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.119164207A= | CA1488811844 | MYOZ2 | c.377-4A= (n.377-4A=) | |
4 | g.119164207A>G | CA554526244 | MYOZ2 | c.377-4A>G (n.377-4A>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.119164209del | CA2671884435 | MYOZ2 | c.377-2del (n.377-2del) | gnomAD v4 |
4 | g.119164208A>G | CA2578177030 | MYOZ2 | c.377-3A>G (n.377-3A>G) | |
4 | g.119164209A>C | CA358204067 | MYOZ2 | c.377-2A>C (n.377-2A>C) | |
4 | g.119164209A>G | CA358204068 | MYOZ2 | c.377-2A>G (n.377-2A>G) | |
4 | g.119164209A>T | CA358204069 | MYOZ2 | c.377-2A>T (n.377-2A>T) | |
4 | g.119164210G>A | CA358204070 | MYOZ2 | c.377-1G>A (n.377-1G>A) | |
4 | g.119164210G>C | CA358204072 | MYOZ2 | c.377-1G>C (n.377-1G>C) | |
4 | g.119164210G>T | CA358204071 | MYOZ2 | c.377-1G>T (n.377-1G>T) | gnomAD v4 |
4 | g.119164211G>A | CA358204073 | MYOZ2 | c.377G>A (p.Gly126Glu) | |
4 | g.119164211G>C | CA358204075 | MYOZ2 | c.377G>C (p.Gly126Ala) | gnomAD v4 |
4 | g.119164211G>T | CA358204074 | MYOZ2 | c.377G>T (p.Gly126Val) | |
4 | g.119164212A>C | CA441009707 | MYOZ2 | c.378A>C (p.Gly126=) | |
4 | g.119164212A>G | CA441009708 | MYOZ2 | c.378A>G (p.Gly126=) | |
4 | g.119164212A>T | CA441009709 | MYOZ2 | c.378A>T (p.Gly126=) | |
4 | g.119164213T>A | CA358204076 | MYOZ2 | c.379T>A (p.Tyr127Asn) | |
4 | g.119164213T>C | CA358204077 | MYOZ2 | c.379T>C (p.Tyr127His) | |
4 | g.119164213T>G | CA358204078 | MYOZ2 | c.379T>G (p.Tyr127Asp) | |
4 | g.119164214A= | CA1488811845 | MYOZ2 | c.380A= (p.Tyr127=) | |
4 | g.119164214A>C | CA358204079 | MYOZ2 | c.380A>C (p.Tyr127Ser) | |
4 | g.119164214A>G | CA358204080 | MYOZ2 | c.380A>G (p.Tyr127Cys) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.119164214A>T | CA358204081 | MYOZ2 | c.380A>T (p.Tyr127Phe) | |
4 | g.119164215T>A | CA358204083 | MYOZ2 | c.381T>A (p.Tyr127Ter) | |
4 | g.119164215T>C | CA441009711 | MYOZ2 | c.381T>C (p.Tyr127=) | |
4 | g.119164215T>G | CA358204082 | MYOZ2 | c.381T>G (p.Tyr127Ter) | |
4 | g.119164216T>A | CA358204084 | MYOZ2 | c.382T>A (p.Ser128Thr) | |
4 | g.119164216T>C | CA358204085 | MYOZ2 | c.382T>C (p.Ser128Pro) | gnomAD v4 |
4 | g.119164216T>G | CA358204086 | MYOZ2 | c.382T>G (p.Ser128Ala) | |
4 | g.119164217C>A | CA358204087 | MYOZ2 | c.383C>A (p.Ser128Tyr) | |
4 | g.119164217C= | CA1488811846 | MYOZ2 | c.383C= (p.Ser128=) | |
4 | g.119164217C>G | CA358204088 | MYOZ2 | c.383C>G (p.Ser128Cys) | ClinVar |
4 | g.119164217C>T | CA104971826 | MYOZ2 | c.383C>T (p.Ser128Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.119164218T>A | CA441009712 | MYOZ2 | c.384T>A (p.Ser128=) | |
4 | g.119164218T>C | CA441009713 | MYOZ2 | c.384T>C (p.Ser128=) | |
4 | g.119164218T>G | CA441009714 | MYOZ2 | c.384T>G (p.Ser128=) | |
4 | g.119164219G>A | CA358204089 | MYOZ2 | c.385G>A (p.Gly129Arg) | gnomAD v4 |
4 | g.119164219G>C | CA358204091 | MYOZ2 | c.385G>C (p.Gly129Arg) | |
4 | g.119164219G>T | CA358204090 | MYOZ2 | c.385G>T (p.Gly129Ter) |