Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.44186578T>A | CA409095472 | JPH2 | c.128A>T (p.Asn43Ile) | |
20 | g.44186578T>C | CA335208 | JPH2 | c.128A>G (p.Asn43Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44186578T>G | CA409095473 | JPH2 | c.128A>C (p.Asn43Thr) | |
20 | g.44186578T= | CA2365659743 | JPH2 | c.128A= (p.Asn43=) | |
20 | g.44186579del | CA2652958154 | JPH2 | c.128del (p.Asn43ThrfsTer?) | gnomAD v4 |
20 | g.44186579T>A | CA409095474 | JPH2 | c.127A>T (p.Asn43Tyr) | |
20 | g.44186579T>C | CA409095475 | JPH2 | c.127A>G (p.Asn43Asp) | |
20 | g.44186579T>G | CA409095476 | JPH2 | c.127A>C (p.Asn43His) | |
20 | g.44186580C>A | CA409095477 | JPH2 | c.126G>T (p.Trp42Cys) | |
20 | g.44186580C>G | CA409095478 | JPH2 | c.126G>C (p.Trp42Cys) | |
20 | g.44186580C>T | CA409095479 | JPH2 | c.126G>A (p.Trp42Ter) | gnomAD v4 |
20 | g.44186581C>A | CA409095480 | JPH2 | c.125G>T (p.Trp42Leu) | |
20 | g.44186581C>G | CA409095482 | JPH2 | c.125G>C (p.Trp42Ser) | |
20 | g.44186581C>T | CA409095481 | JPH2 | c.125G>A (p.Trp42Ter) | |
20 | g.44186582del | CA2652958155 | JPH2 | c.124del (p.Trp42GlyfsTer?) | gnomAD v4 |
20 | g.44186582A= | CA2365659744 | JPH2 | c.124T= (p.Trp42=) | |
20 | g.44186582A>C | CA409095483 | JPH2 | c.124T>G (p.Trp42Gly) | |
20 | g.44186582A>G | CA409095484 | JPH2 | c.124T>C (p.Trp42Arg) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.44186582A>T | CA409095485 | JPH2 | c.124T>A (p.Trp42Arg) | |
20 | g.44186583G>A | CA510739920 | JPH2 | c.123C>T (p.Ser41=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.44186583G>C | CA510739921 | JPH2 | c.123C>G (p.Ser41=) | |
20 | g.44186583G= | CA2365659745 | JPH2 | c.123C= (p.Ser41=) | |
20 | g.44186583G>T | CA510739923 | JPH2 | c.123C>A (p.Ser41=) | |
20 | g.44186584G>A | CA409095486 | JPH2 | c.122C>T (p.Ser41Phe) | |
20 | g.44186584G>C | CA409095487 | JPH2 | c.122C>G (p.Ser41Cys) | |
20 | g.44186584G>T | CA409095488 | JPH2 | c.122C>A (p.Ser41Tyr) | |
20 | g.44186585A>C | CA409095491 | JPH2 | c.121T>G (p.Ser41Ala) | |
20 | g.44186585A>G | CA409095490 | JPH2 | c.121T>C (p.Ser41Pro) | gnomAD v4 |
20 | g.44186585A>T | CA409095489 | JPH2 | c.121T>A (p.Ser41Thr) | |
20 | g.44186586G>A | CA510739924 | JPH2 | c.120C>T (p.Gly40=) | |
20 | g.44186586G>C | CA510739925 | JPH2 | c.120C>G (p.Gly40=) | |
20 | g.44186586G>T | CA510739927 | JPH2 | c.120C>A (p.Gly40=) | gnomAD v4 |
20 | g.44186587C>A | CA409095492 | JPH2 | c.119G>T (p.Gly40Val) | gnomAD v4 |
20 | g.44186587C>G | CA409095493 | JPH2 | c.119G>C (p.Gly40Ala) | |
20 | g.44186587C>T | CA409095494 | JPH2 | c.119G>A (p.Gly40Asp) | |
20 | g.44186588C>A | CA409095495 | JPH2 | c.118G>T (p.Gly40Cys) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.44186588C= | CA2365659746 | JPH2 | c.118G= (p.Gly40=) | |
20 | g.44186588C>G | CA409095496 | JPH2 | c.118G>C (p.Gly40Arg) | |
20 | g.44186588C>T | CA409095497 | JPH2 | c.118G>A (p.Gly40Ser) | |
20 | g.44186589A= | CA2365659747 | JPH2 | c.117T= (p.Ser39=) | |
20 | g.44186589A>C | CA510739930 | JPH2 | c.117T>G (p.Ser39=) | |
20 | g.44186589A>G | CA510739931 | JPH2 | c.117T>C (p.Ser39=) | |
20 | g.44186589A>T | CA315352263 | JPH2 | c.117T>A (p.Ser39=) | dbSNP gnomAD v4 |
20 | g.44186590G>A | CA409095499 | JPH2 | c.116C>T (p.Ser39Phe) | COSMIC COSMIC |
20 | g.44186590G>C | CA315352275 | JPH2 | c.116C>G (p.Ser39Cys) | dbSNP |
20 | g.44186590G= | CA2365659748 | JPH2 | c.116C= (p.Ser39=) | |
20 | g.44186590G>T | CA409095498 | JPH2 | c.116C>A (p.Ser39Tyr) | gnomAD v4 |
20 | g.44186591A>C | CA409095500 | JPH2 | c.115T>G (p.Ser39Ala) | |
20 | g.44186591A>G | CA409095501 | JPH2 | c.115T>C (p.Ser39Pro) | |
20 | g.44186591A>T | CA409095502 | JPH2 | c.115T>A (p.Ser39Thr) |