Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
4 | g.119164220G>A | CA3058627 | MYOZ2 | c.386G>A (p.Gly129Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.119164220G>C | CA358204092 | MYOZ2 | c.386G>C (p.Gly129Ala) | |
4 | g.119164220G= | CA1488811847 | MYOZ2 | c.386G= (p.Gly129=) | |
4 | g.119164220G>T | CA358204093 | MYOZ2 | c.386G>T (p.Gly129Val) | |
4 | g.119164221A= | CA1488811848 | MYOZ2 | c.387A= (p.Gly129=) | |
4 | g.119164221A>C | CA441009717 | MYOZ2 | c.387A>C (p.Gly129=) | |
4 | g.119164221A>G | CA441009716 | MYOZ2 | c.387A>G (p.Gly129=) | |
4 | g.119164221A>T | CA441009715 | MYOZ2 | c.387A>T (p.Gly129=) | dbSNP gnomAD v2 |
4 | g.119164222C>A | CA358204094 | MYOZ2 | c.388C>A (p.Pro130Thr) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.119164222C= | CA1488811849 | MYOZ2 | c.388C= (p.Pro130=) | |
4 | g.119164222C>G | CA358204095 | MYOZ2 | c.388C>G (p.Pro130Ala) | |
4 | g.119164222C>T | CA358204096 | MYOZ2 | c.388C>T (p.Pro130Ser) | |
4 | g.119164223C>A | CA358204097 | MYOZ2 | c.389C>A (p.Pro130Gln) | |
4 | g.119164223C= | CA1488811850 | MYOZ2 | c.389C= (p.Pro130=) | |
4 | g.119164223C>G | CA358204098 | MYOZ2 | c.389C>G (p.Pro130Arg) | |
4 | g.119164223C>T | CA104971827 | MYOZ2 | c.389C>T (p.Pro130Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.119164224A= | CA1488811851 | MYOZ2 | c.390A= (p.Pro130=) | |
4 | g.119164224A>C | CA441009718 | MYOZ2 | c.390A>C (p.Pro130=) | dbSNP |
4 | g.119164224A>G | CA441009719 | MYOZ2 | c.390A>G (p.Pro130=) | |
4 | g.119164224A>T | CA441009720 | MYOZ2 | c.390A>T (p.Pro130=) | ClinVar dbSNP |
4 | g.119164225C>A | CA358204099 | MYOZ2 | c.391C>A (p.Leu131Met) | gnomAD v4 |
4 | g.119164225C= | CA1488811852 | MYOZ2 | c.391C= (p.Leu131=) | |
4 | g.119164225C>G | CA358204100 | MYOZ2 | c.391C>G (p.Leu131Val) | |
4 | g.119164225C>T | CA441009721 | MYOZ2 | c.391C>T (p.Leu131=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.119164226T>A | CA3058628 | MYOZ2 | c.392T>A (p.Leu131Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.119164226T>C | CA358204102 | MYOZ2 | c.392T>C (p.Leu131Pro) | |
4 | g.119164226T>G | CA358204101 | MYOZ2 | c.392T>G (p.Leu131Arg) |