Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38499918_38499920dup | CA2584900089 | RYR1 | c.7225_7227dup (p.Glu2409_Pro2410insGlu) c.7222_7224dup (p.Glu2408_Pro2409insGlu) c.677_679dup n.7308_7310dup | gnomAD v4 |
19 | g.38499919A>C | CA405669091 | RYR1 | c.7226A>C (p.Glu2409Ala) c.7223A>C (p.Glu2408Ala) c.678A>C n.7309A>C | |
19 | g.38499919A>G | CA405669093 | RYR1 | c.7226A>G (p.Glu2409Gly) c.7223A>G (p.Glu2408Gly) c.678A>G n.7309A>G | |
19 | g.38499919A>T | CA405669094 | RYR1 | c.7226A>T (p.Glu2409Val) c.7223A>T (p.Glu2408Val) c.678A>T n.7309A>T | |
19 | g.38499920A>C | CA405669096 | RYR1 | c.7227A>C (p.Glu2409Asp) c.7224A>C (p.Glu2408Asp) c.679A>C n.7310A>C | |
19 | g.38499920A>G | CA507353703 | RYR1 | c.7227A>G (p.Glu2409=) c.7224A>G (p.Glu2408=) c.679A>G n.7310A>G | ClinVar |
19 | g.38499920A>T | CA405669100 | RYR1 | c.7227A>T (p.Glu2409Asp) c.7224A>T (p.Glu2408Asp) c.679A>T n.7310A>T | |
19 | g.38499921C>A | CA069317 | RYR1 | c.7228C>A (p.Pro2410Thr) c.7225C>A (p.Pro2409Thr) c.680C>A n.7311C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499921C= | CA2335053010 | RYR1 | c.7228C= (p.Pro2410=) c.7225C= (p.Pro2409=) c.680C= n.7311C= | |
19 | g.38499921C>G | CA405669103 | RYR1 | c.7228C>G (p.Pro2410Ala) c.7225C>G (p.Pro2409Ala) c.680C>G n.7311C>G | |
19 | g.38499921C>T | CA082363 | RYR1 | c.7228C>T (p.Pro2410Ser) c.7225C>T (p.Pro2409Ser) c.680C>T n.7311C>T | |
19 | g.38499922C>A | CA405669104 | RYR1 | c.7229C>A (p.Pro2410Gln) c.7226C>A (p.Pro2409Gln) c.681C>A n.7312C>A | gnomAD v4 |
19 | g.38499922C= | CA2335053011 | RYR1 | c.7229C= (p.Pro2410=) c.7226C= (p.Pro2409=) c.681C= n.7312C= | |
19 | g.38499922C>G | CA405669107 | RYR1 | c.7229C>G (p.Pro2410Arg) c.7226C>G (p.Pro2409Arg) c.681C>G n.7312C>G | |
19 | g.38499922C>T | CA069321 | RYR1 | c.7229C>T (p.Pro2410Leu) c.7226C>T (p.Pro2409Leu) c.681C>T n.7312C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499923G>A | CA069333 | RYR1 | c.7230G>A (p.Pro2410=) c.7227G>A (p.Pro2409=) c.682G>A n.7313G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38499923G>C | CA507353706 | RYR1 | c.7230G>C (p.Pro2410=) c.7227G>C (p.Pro2409=) c.682G>C n.7313G>C | |
19 | g.38499923G= | CA2335053012 | RYR1 | c.7230G= (p.Pro2410=) c.7227G= (p.Pro2409=) c.682G= n.7313G= | |
19 | g.38499923G>T | CA507353704 | RYR1 | c.7230G>T (p.Pro2410=) c.7227G>T (p.Pro2409=) c.682G>T n.7313G>T | |
19 | g.38499924C>A | CA082382 | RYR1 | c.7231C>A (p.Pro2411Thr) c.7228C>A (p.Pro2410Thr) c.683C>A n.7314C>A | dbSNP gnomAD v2 |
19 | g.38499924C= | CA2335053013 | RYR1 | c.7231C= (p.Pro2411=) c.7228C= (p.Pro2410=) c.683C= n.7314C= | |
19 | g.38499924C>G | CA405669117 | RYR1 | c.7231C>G (p.Pro2411Ala) c.7228C>G (p.Pro2410Ala) c.683C>G n.7314C>G | |
19 | g.38499924C>T | CA405669120 | RYR1 | c.7231C>T (p.Pro2411Ser) c.7228C>T (p.Pro2410Ser) c.683C>T n.7314C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499925C>A | CA405669124 | RYR1 | c.7232C>A (p.Pro2411His) c.7229C>A (p.Pro2410His) c.684C>A n.7315C>A | dbSNP gnomAD v4 |
19 | g.38499925C= | CA2335053014 | RYR1 | c.7232C= (p.Pro2411=) c.7229C= (p.Pro2410=) c.684C= n.7315C= | |
19 | g.38499925C>G | CA405669126 | RYR1 | c.7232C>G (p.Pro2411Arg) c.7229C>G (p.Pro2410Arg) c.684C>G n.7315C>G | |
19 | g.38499925C>T | CA082365 | RYR1 | c.7232C>T (p.Pro2411Leu) c.7229C>T (p.Pro2410Leu) c.684C>T n.7315C>T | |
19 | g.38499926del | CA2573156328 | RYR1 | c.7233del (p.Glu2412LysfsTer18) c.7230del (p.Glu2411LysfsTer18) c.685del n.7316del | ClinVar dbSNP |
19 | g.38499926T>A | CA507353709 | RYR1 | c.7233T>A (p.Pro2411=) c.7230T>A (p.Pro2410=) c.685T>A n.7316T>A | |
19 | g.38499926T>C | CA507353710 | RYR1 | c.7233T>C (p.Pro2411=) c.7230T>C (p.Pro2410=) c.685T>C n.7316T>C | |
19 | g.38499926T>G | CA507353711 | RYR1 | c.7233T>G (p.Pro2411=) c.7230T>G (p.Pro2410=) c.685T>G n.7316T>G | |
19 | g.38499927G>A | CA405669132 | RYR1 | c.7234G>A (p.Glu2412Lys) c.7231G>A (p.Glu2411Lys) c.686G>A n.7317G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499927G>C | CA405669135 | RYR1 | c.7234G>C (p.Glu2412Gln) c.7231G>C (p.Glu2411Gln) c.686G>C n.7317G>C | |
19 | g.38499927G= | CA2335053015 | RYR1 | c.7234G= (p.Glu2412=) c.7231G= (p.Glu2411=) c.686G= n.7317G= | |
19 | g.38499927G>T | CA405669136 | RYR1 | c.7234G>T (p.Glu2412Ter) c.7231G>T (p.Glu2411Ter) c.686G>T n.7317G>T | |
19 | g.38499928A>C | CA405669137 | RYR1 | c.7235A>C (p.Glu2412Ala) c.7232A>C (p.Glu2411Ala) c.687A>C n.7318A>C | |
19 | g.38499928A>G | CA405669138 | RYR1 | c.7235A>G (p.Glu2412Gly) c.7232A>G (p.Glu2411Gly) c.687A>G n.7318A>G | |
19 | g.38499928A>T | CA405669139 | RYR1 | c.7235A>T (p.Glu2412Val) c.7232A>T (p.Glu2411Val) c.687A>T n.7318A>T | |
19 | g.38499929A>C | CA405669140 | RYR1 | c.7236A>C (p.Glu2412Asp) c.7233A>C (p.Glu2411Asp) c.688A>C n.7319A>C | |
19 | g.38499929A>G | CA507353716 | RYR1 | c.7236A>G (p.Glu2412=) c.7233A>G (p.Glu2411=) c.688A>G n.7319A>G | |
19 | g.38499929A>T | CA405669141 | RYR1 | c.7236A>T (p.Glu2412Asp) c.7233A>T (p.Glu2411Asp) c.688A>T n.7319A>T | gnomAD v4 |
19 | g.38499929_38499930delinsGC | CA082368 | RYR1 | c.7236_7237delinsGC (p.Glu2413Gln) c.7233_7234delinsGC (p.Glu2412Gln) c.688_689delinsGC n.7319_7320delinsGC | |
19 | g.38499930G>A | CA405669144 | RYR1 | c.7237G>A (p.Glu2413Lys) c.7234G>A (p.Glu2412Lys) c.689G>A n.7320G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499930G>C | CA405669145 | RYR1 | c.7237G>C (p.Glu2413Gln) c.7234G>C (p.Glu2412Gln) c.689G>C n.7320G>C | |
19 | g.38499930G= | CA2335053016 | RYR1 | c.7237G= (p.Glu2413=) c.7234G= (p.Glu2412=) c.689G= n.7320G= | |
19 | g.38499930G>T | CA405669155 | RYR1 | c.7237G>T (p.Glu2413Ter) c.7234G>T (p.Glu2412Ter) c.689G>T n.7320G>T | ClinVar dbSNP |
19 | g.38499931A>C | CA405669156 | RYR1 | c.7238A>C (p.Glu2413Ala) c.7235A>C (p.Glu2412Ala) c.690A>C n.7321A>C | gnomAD v4 |
19 | g.38499931A>G | CA405669157 | RYR1 | c.7238A>G (p.Glu2413Gly) c.7235A>G (p.Glu2412Gly) c.690A>G n.7321A>G | |
19 | g.38499931A>T | CA405669158 | RYR1 | c.7238A>T (p.Glu2413Val) c.7235A>T (p.Glu2412Val) c.690A>T n.7321A>T | |
19 | g.38499932A>C | CA405669159 | RYR1 | c.7239A>C (p.Glu2413Asp) c.7236A>C (p.Glu2412Asp) c.691A>C n.7322A>C | gnomAD v4 |