Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.44160026C>A | CA409093725 | JPH2 | c.761G>T (p.Ser254Ile) | gnomAD v4 |
20 | g.44160026C>G | CA409093726 | JPH2 | c.761G>C (p.Ser254Thr) | |
20 | g.44160026C>T | CA409093727 | JPH2 | c.761G>A (p.Ser254Asn) | gnomAD v4 |
20 | g.44160027T>A | CA409093728 | JPH2 | c.760A>T (p.Ser254Cys) | gnomAD v4 |
20 | g.44160027T>C | CA409093729 | JPH2 | c.760A>G (p.Ser254Gly) | |
20 | g.44160027T>G | CA409093730 | JPH2 | c.760A>C (p.Ser254Arg) | |
20 | g.44160028G>A | CA510739728 | JPH2 | c.759C>T (p.Leu253=) | ClinVar gnomAD v4 |
20 | g.44160028G>C | CA510739729 | JPH2 | c.759C>G (p.Leu253=) | |
20 | g.44160028G>T | CA510739730 | JPH2 | c.759C>A (p.Leu253=) | gnomAD v4 |
20 | g.44160029A= | CA2365647681 | JPH2 | c.758T= (p.Leu253=) | |
20 | g.44160029A>C | CA409093731 | JPH2 | c.758T>G (p.Leu253Arg) | |
20 | g.44160029A>G | CA409093732 | JPH2 | c.758T>C (p.Leu253Pro) | dbSNP gnomAD v4 |
20 | g.44160029A>T | CA409093733 | JPH2 | c.758T>A (p.Leu253His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.44160030G>A | CA409093734 | JPH2 | c.757C>T (p.Leu253Phe) | gnomAD v4 |
20 | g.44160030G>C | CA409093735 | JPH2 | c.757C>G (p.Leu253Val) | |
20 | g.44160030G>T | CA409093736 | JPH2 | c.757C>A (p.Leu253Ile) | gnomAD v4 |
20 | g.44160031G>A | CA510739731 | JPH2 | c.756C>T (p.Asp252=) | gnomAD v4 |
20 | g.44160031G>C | CA409093737 | JPH2 | c.756C>G (p.Asp252Glu) | |
20 | g.44160031G>T | CA409093738 | JPH2 | c.756C>A (p.Asp252Glu) | ClinVar dbSNP gnomAD v4 |
20 | g.44160032T>A | CA409093739 | JPH2 | c.755A>T (p.Asp252Val) | |
20 | g.44160032T>C | CA409093740 | JPH2 | c.755A>G (p.Asp252Gly) | |
20 | g.44160032T>G | CA409093741 | JPH2 | c.755A>C (p.Asp252Ala) | |
20 | g.44160033C>A | CA409093742 | JPH2 | c.754G>T (p.Asp252Tyr) | gnomAD v4 |
20 | g.44160033C= | CA2365647682 | JPH2 | c.754G= (p.Asp252=) | |
20 | g.44160033C>G | CA409093743 | JPH2 | c.754G>C (p.Asp252His) | gnomAD v4 |
20 | g.44160033C>T | CA9868821 | JPH2 | c.754G>A (p.Asp252Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.44160034G>A | CA510739227 | JPH2 | c.753C>T (p.Ser251=) | gnomAD v4 |
20 | g.44160034G>C | CA9868822 | JPH2 | c.753C>G (p.Ser251Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44160034G= | CA2365647683 | JPH2 | c.753C= (p.Ser251=) | |
20 | g.44160034G>T | CA409093744 | JPH2 | c.753C>A (p.Ser251Arg) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.44160035C>A | CA409093745 | JPH2 | c.752G>T (p.Ser251Ile) | gnomAD v4 |
20 | g.44160035C= | CA2365647684 | JPH2 | c.752G= (p.Ser251=) | |
20 | g.44160035C>G | CA409093746 | JPH2 | c.752G>C (p.Ser251Thr) | |
20 | g.44160035C>T | CA409093747 | JPH2 | c.752G>A (p.Ser251Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.44160036T>A | CA409093750 | JPH2 | c.751A>T (p.Ser251Cys) | gnomAD v4 |
20 | g.44160036T>C | CA409093749 | JPH2 | c.751A>G (p.Ser251Gly) | gnomAD v4 |
20 | g.44160036T>G | CA409093748 | JPH2 | c.751A>C (p.Ser251Arg) | |
20 | g.44160037C>A | CA409093751 | JPH2 | c.750G>T (p.Lys250Asn) | gnomAD v4 |
20 | g.44160037C= | CA2365647685 | JPH2 | c.750G= (p.Lys250=) | |
20 | g.44160037C>G | CA409093752 | JPH2 | c.750G>C (p.Lys250Asn) | gnomAD v4 |
20 | g.44160037C>T | CA9868823 | JPH2 | c.750G>A (p.Lys250=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.44160038T>A | CA409093753 | JPH2 | c.749A>T (p.Lys250Met) | |
20 | g.44160038T>C | CA409093754 | JPH2 | c.749A>G (p.Lys250Arg) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.44160038T>G | CA409093755 | JPH2 | c.749A>C (p.Lys250Thr) | |
20 | g.44160038T= | CA2365647686 | JPH2 | c.749A= (p.Lys250=) | |
20 | g.44160038_44160058dup | CA920218944 | JPH2 | c.729_749dup (p.Leu249_Lys250insAsnSerArgValSerPheLeu) | dbSNP gnomAD v4 |
20 | g.44160039T>A | CA409093756 | JPH2 | c.748A>T (p.Lys250Ter) | |
20 | g.44160039T>C | CA409093757 | JPH2 | c.748A>G (p.Lys250Glu) | gnomAD v4 |
20 | g.44160039T>G | CA409093758 | JPH2 | c.748A>C (p.Lys250Gln) | |
20 | g.44160040A>C | CA510739233 | JPH2 | c.747T>G (p.Leu249=) |