Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.119750732_119750733del | CA2647397998 | HMGCS2 | c.*5+71_*5+72del (n.*5+71_*5+72del) | gnomAD v4 |
1 | g.119750730_119750733del | CA2647397999 | HMGCS2 | c.*5+69_*5+72del (n.*5+69_*5+72del) | dbSNP gnomAD v4 |
1 | g.119750730C>A | CA2647398016 | HMGCS2 | c.*5+67G>T (n.*5+67G>T) | gnomAD v4 |
1 | g.119750730C= | CA1192439221 | HMGCS2 | c.*5+67G= (n.*5+67G=) | |
1 | g.119750730C>G | CA1006328102 | HMGCS2 | c.*5+67G>C (n.*5+67G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750730C>T | CA2647398014 | HMGCS2 | c.*5+67G>A (n.*5+67G>A) | gnomAD v4 |
1 | g.119750730_119750731insCCCACC | CA2647398018 | HMGCS2 | c.*5+67_*5+68insGTGGGG (n.*5+67_*5+68insGTGGGG) | gnomAD v4 |
1 | g.119750731T>A | CA1192439223 | HMGCS2 | c.*5+66A>T (n.*5+66A>T) | dbSNP gnomAD v4 |
1 | g.119750731T>C | CA30269105 | HMGCS2 | c.*5+66A>G (n.*5+66A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119750731T= | CA1192439222 | HMGCS2 | c.*5+66A= (n.*5+66A=) | |
1 | g.119750732C>A | CA2647398022 | HMGCS2 | c.*5+65G>T (n.*5+65G>T) | gnomAD v4 |
1 | g.119750732C>T | CA2647398023 | HMGCS2 | c.*5+65G>A (n.*5+65G>A) | gnomAD v4 |
1 | g.119750734G>A | CA2647398025 | HMGCS2 | c.*5+63C>T (n.*5+63C>T) | gnomAD v4 |
1 | g.119750734G>C | CA2574042284 | HMGCS2 | c.*5+63C>G (n.*5+63C>G) | gnomAD v4 |
1 | g.119750734G>T | CA2647398029 | HMGCS2 | c.*5+63C>A (n.*5+63C>A) | gnomAD v4 |
1 | g.119750735T>A | CA2647398031 | HMGCS2 | c.*5+62A>T (n.*5+62A>T) | gnomAD v4 |
1 | g.119750735T>C | CA2647398033 | HMGCS2 | c.*5+62A>G (n.*5+62A>G) | gnomAD v4 |
1 | g.119750735T>G | CA2647398035 | HMGCS2 | c.*5+62A>C (n.*5+62A>C) | gnomAD v4 |
1 | g.119750736G>A | CA2647398039 | HMGCS2 | c.*5+61C>T (n.*5+61C>T) | gnomAD v4 |
1 | g.119750736G>C | CA2647398037 | HMGCS2 | c.*5+61C>G (n.*5+61C>G) | gnomAD v4 |
1 | g.119750736G>T | CA2647398036 | HMGCS2 | c.*5+61C>A (n.*5+61C>A) | gnomAD v4 |
1 | g.119750736_119750742del | CA2647398038 | HMGCS2 | c.*5+55_*5+61del (n.*5+55_*5+61del) | gnomAD v4 |
1 | g.119750737T>C | CA30269111 | HMGCS2 | c.*5+60A>G (n.*5+60A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750737T>G | CA2647398043 | HMGCS2 | c.*5+60A>C (n.*5+60A>C) | gnomAD v4 |
1 | g.119750737T= | CA1192439224 | HMGCS2 | c.*5+60A= (n.*5+60A=) | |
1 | g.119750738T>C | CA2647398048 | HMGCS2 | c.*5+59A>G (n.*5+59A>G) | gnomAD v4 |
1 | g.119750738T>G | CA1006328107 | HMGCS2 | c.*5+59A>C (n.*5+59A>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750738T= | CA1192439225 | HMGCS2 | c.*5+59A= (n.*5+59A=) | |
1 | g.119750739G>C | CA30269113 | HMGCS2 | c.*5+58C>G (n.*5+58C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119750739G= | CA1148142966 | HMGCS2 | c.*5+58C= (n.*5+58C=) | |
1 | g.119750739G>T | CA2647398053 | HMGCS2 | c.*5+58C>A (n.*5+58C>A) | gnomAD v4 |
1 | g.119750740T>A | CA2647398055 | HMGCS2 | c.*5+57A>T (n.*5+57A>T) | gnomAD v4 |
1 | g.119750740T>C | CA30269116 | HMGCS2 | c.*5+57A>G (n.*5+57A>G) | dbSNP |
1 | g.119750740T>G | CA1192439227 | HMGCS2 | c.*5+57A>C (n.*5+57A>C) | dbSNP gnomAD v4 |
1 | g.119750740T= | CA1192439226 | HMGCS2 | c.*5+57A= (n.*5+57A=) | |
1 | g.119750742A>T | CA2647398058 | HMGCS2 | c.*5+55T>A (n.*5+55T>A) | gnomAD v4 |
1 | g.119750743C>A | CA2647398060 | HMGCS2 | c.*5+54G>T (n.*5+54G>T) | gnomAD v4 |
1 | g.119750743C= | CA1192439228 | HMGCS2 | c.*5+54G= (n.*5+54G=) | |
1 | g.119750743C>T | CA886261478 | HMGCS2 | c.*5+54G>A (n.*5+54G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750744T>A | CA1192439230 | HMGCS2 | c.*5+53A>T (n.*5+53A>T) | dbSNP gnomAD v4 |
1 | g.119750744T>C | CA10685764 | HMGCS2 | c.*5+53A>G (n.*5+53A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119750744T>G | CA1192439229 | HMGCS2 | c.*5+53A>C (n.*5+53A>C) | dbSNP gnomAD v4 |
1 | g.119750744T= | CA1139821433 | HMGCS2 | c.*5+53A= (n.*5+53A=) | |
1 | g.119750745C>A | CA2647398070 | HMGCS2 | c.*5+52G>T (n.*5+52G>T) | gnomAD v4 |
1 | g.119750745C>T | CA2574042285 | HMGCS2 | c.*5+52G>A (n.*5+52G>A) | |
1 | g.119750746A>G | CA2647398072 | HMGCS2 | c.*5+51T>C (n.*5+51T>C) | gnomAD v4 |
1 | g.119750747G>C | CA2647398074 | HMGCS2 | c.*5+50C>G (n.*5+50C>G) | gnomAD v4 |
1 | g.119750747G>T | CA2647398073 | HMGCS2 | c.*5+50C>A (n.*5+50C>A) | gnomAD v4 |
1 | g.119750748A= | CA1192439231 | HMGCS2 | c.*5+49T= (n.*5+49T=) | |
1 | g.119750748A>G | CA30269123 | HMGCS2 | c.*5+49T>C (n.*5+49T>C) | dbSNP gnomAD v4 |