Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.189995367G>A | CA175051 | P3H2 | c.556C>T (p.Gln186Ter) c.13C>T (p.Gln5Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.189995367G>C | CA355759852 | P3H2 | c.556C>G (p.Gln186Glu) c.13C>G (p.Gln5Glu) | |
3 | g.189995367G= | CA1428574732 | P3H2 | c.556C= (p.Gln186=) c.13C= (p.Gln5=) | |
3 | g.189995367G>T | CA355759853 | P3H2 | c.556C>A (p.Gln186Lys) c.13C>A (p.Gln5Lys) | |
3 | g.189995368C>A | CA2753308 | P3H2 | c.555G>T (p.Gln185His) c.12G>T (p.Gln4His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.189995368C= | CA1428574741 | P3H2 | c.555G= (p.Gln185=) c.12G= (p.Gln4=) | |
3 | g.189995368C>G | CA355759854 | P3H2 | c.555G>C (p.Gln185His) c.12G>C (p.Gln4His) | |
3 | g.189995368C>T | CA437418291 | P3H2 | c.555G>A (p.Gln185=) c.12G>A (p.Gln4=) | |
3 | g.189995369T>A | CA355759855 | P3H2 | c.554A>T (p.Gln185Leu) c.11A>T (p.Gln4Leu) | |
3 | g.189995369T>C | CA355759856 | P3H2 | c.554A>G (p.Gln185Arg) c.11A>G (p.Gln4Arg) | gnomAD v4 |
3 | g.189995369T>G | CA355759857 | P3H2 | c.554A>C (p.Gln185Pro) c.11A>C (p.Gln4Pro) | |
3 | g.189995370G>A | CA355759860 | P3H2 | c.553C>T (p.Gln185Ter) c.10C>T (p.Gln4Ter) | |
3 | g.189995370G>C | CA355759859 | P3H2 | c.553C>G (p.Gln185Glu) c.10C>G (p.Gln4Glu) | |
3 | g.189995370G>T | CA355759858 | P3H2 | c.553C>A (p.Gln185Lys) c.10C>A (p.Gln4Lys) | |
3 | g.189995371C>A | CA355759861 | P3H2 | c.552G>T (p.Met184Ile) c.9G>T (p.Met3Ile) | |
3 | g.189995371C>G | CA355759862 | P3H2 | c.552G>C (p.Met184Ile) c.9G>C (p.Met3Ile) | |
3 | g.189995371C>T | CA355759863 | P3H2 | c.552G>A (p.Met184Ile) c.9G>A (p.Met3Ile) | |
3 | g.189995372A= | CA1428574747 | P3H2 | c.551T= (p.Met184=) c.8T= (p.Met3=) | |
3 | g.189995372A>C | CA355759864 | P3H2 | c.551T>G (p.Met184Arg) c.8T>G (p.Met3Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.189995372A>G | CA355759865 | P3H2 | c.551T>C (p.Met184Thr) c.8T>C (p.Met3Thr) | |
3 | g.189995372A>T | CA355759866 | P3H2 | c.551T>A (p.Met184Lys) c.8T>A (p.Met3Lys) | |
3 | g.189995373T>A | CA355759867 | P3H2 | c.550A>T (p.Met184Leu) c.7A>T (p.Met3Leu) | |
3 | g.189995373T>C | CA355759868 | P3H2 | c.550A>G (p.Met184Val) c.7A>G (p.Met3Val) | gnomAD v4 |
3 | g.189995373T>G | CA355759869 | P3H2 | c.550A>C (p.Met184Leu) c.7A>C (p.Met3Leu) | |
3 | g.189995374T>A | CA355759870 | P3H2 | c.549A>T (p.Glu183Asp) c.6A>T (p.Glu2Asp) | |
3 | g.189995374T>C | CA437418292 | P3H2 | c.549A>G (p.Glu183=) c.6A>G (p.Glu2=) | |
3 | g.189995374T>G | CA355759871 | P3H2 | c.549A>C (p.Glu183Asp) c.6A>C (p.Glu2Asp) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.189995374T= | CA1428574751 | P3H2 | c.549A= (p.Glu183=) c.6A= (p.Glu2=) | |
3 | g.189995375T>A | CA89743112 | P3H2 | c.548A>T (p.Glu183Val) c.5A>T (p.Glu2Val) | dbSNP |
3 | g.189995375T>C | CA355759872 | P3H2 | c.548A>G (p.Glu183Gly) c.5A>G (p.Glu2Gly) | |
3 | g.189995375T>G | CA355759873 | P3H2 | c.548A>C (p.Glu183Ala) c.5A>C (p.Glu2Ala) | |
3 | g.189995375T= | CA1428574755 | P3H2 | c.548A= (p.Glu183=) c.5A= (p.Glu2=) | |
3 | g.189995376C>A | CA355759875 | P3H2 | c.547G>T (p.Glu183Ter) c.4G>T (p.Glu2Ter) | |
3 | g.189995376C= | CA1428574758 | P3H2 | c.547G= (p.Glu183=) c.4G= (p.Glu2=) | |
3 | g.189995376C>G | CA2753309 | P3H2 | c.547G>C (p.Glu183Gln) c.4G>C (p.Glu2Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.189995376C>T | CA355759874 | P3H2 | c.547G>A (p.Glu183Lys) c.4G>A (p.Glu2Lys) | gnomAD v4 COSMIC |
3 | g.189995377C>A | CA355759876 | P3H2 | c.546G>T (p.Met182Ile) c.3G>T (p.Met1Ile) | |
3 | g.189995377C= | CA1428574765 | P3H2 | c.546G= (p.Met182=) c.3G= (p.Met1=) | |
3 | g.189995377C>G | CA355759877 | P3H2 | c.546G>C (p.Met182Ile) c.3G>C (p.Met1Ile) | |
3 | g.189995377C>T | CA355759878 | P3H2 | c.546G>A (p.Met182Ile) c.3G>A (p.Met1Ile) | dbSNP gnomAD v4 |
3 | g.189995378A= | CA1428574770 | P3H2 | c.545T= (p.Met182=) c.2T= (p.Met1=) | |
3 | g.189995378A>C | CA355759879 | P3H2 | c.545T>G (p.Met182Arg) c.2T>G (p.Met1Arg) | |
3 | g.189995378A>G | CA355759880 | P3H2 | c.545T>C (p.Met182Thr) c.2T>C (p.Met1Thr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.189995378A>T | CA355759881 | P3H2 | c.545T>A (p.Met182Lys) c.2T>A (p.Met1Lys) | |
3 | g.189995379T>A | CA355759882 | P3H2 | c.544A>T (p.Met182Leu) c.1A>T (p.Met1Leu) | |
3 | g.189995379T>C | CA2753310 | P3H2 | c.544A>G (p.Met182Val) c.1A>G (p.Met1Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.189995379T>G | CA2753311 | P3H2 | c.544A>C (p.Met182Leu) c.1A>C (p.Met1Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.189995379T= | CA1428574777 | P3H2 | c.544A= (p.Met182=) c.1A= (p.Met1=) | |
3 | g.189995380G>A | CA437418295 | P3H2 | c.543C>T (p.His181=) c.-1C>T (n.-1C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.189995380G>C | CA355759883 | P3H2 | c.543C>G (p.His181Gln) c.-1C>G (n.-1C>G) |