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.119750727T>C | CA1192439220 | HMGCS2 | c.*5+70A>G (n.*5+70A>G) | dbSNP gnomAD v4 |
1 | g.119750727T= | CA1192439219 | HMGCS2 | c.*5+70A= (n.*5+70A=) | |
1 | g.119750727dup | CA2647398004 | HMGCS2 | c.*5+70dup (n.*5+70dup) | gnomAD v4 |
1 | g.119750728C>A | CA2647398007 | HMGCS2 | c.*5+69G>T (n.*5+69G>T) | gnomAD v4 |
1 | g.119750728_119750729insCC | CA2647398006 | HMGCS2 | c.*5+69_*5+70insGG (n.*5+69_*5+70insGG) | gnomAD v4 |
1 | g.119750729T>A | CA2574042283 | HMGCS2 | c.*5+68A>T (n.*5+68A>T) | |
1 | g.119750729T>C | CA10988443 | HMGCS2 | c.*5+68A>G (n.*5+68A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119750729T>G | CA2581676255 | HMGCS2 | c.*5+68A>C (n.*5+68A>C) | |
1 | g.119750729T= | CA1139821432 | HMGCS2 | c.*5+68A= (n.*5+68A=) | |
1 | g.119750729_119750730insGCACCTGTCCCCACCTTCTCC | CA2647398013 | HMGCS2 | c.*5+67_*5+68insGGAGAAGGTGGGGACAGGTGC (n.*5+67_*5+68insGGAGAAGGTGGGGACAGGTGC) | 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 |
1 | g.119750748A>T | CA2647398079 | HMGCS2 | c.*5+49T>A (n.*5+49T>A) | gnomAD v4 |
1 | g.119750749G>T | CA2647398081 | HMGCS2 | c.*5+48C>A (n.*5+48C>A) | gnomAD v4 |
1 | g.119750750G>A | CA2647398082 | HMGCS2 | c.*5+47C>T (n.*5+47C>T) | gnomAD v4 |
1 | g.119750750G>T | CA2647398083 | HMGCS2 | c.*5+47C>A (n.*5+47C>A) | gnomAD v4 |
1 | g.119750751A>C | CA2647398085 | HMGCS2 | c.*5+46T>G (n.*5+46T>G) | gnomAD v4 |
1 | g.119750752A>C | CA2647398087 | HMGCS2 | c.*5+45T>G (n.*5+45T>G) | gnomAD v4 |
1 | g.119750752A>G | CA2647398088 | HMGCS2 | c.*5+45T>C (n.*5+45T>C) | gnomAD v4 |
1 | g.119750752A>T | CA2647398090 | HMGCS2 | c.*5+45T>A (n.*5+45T>A) | gnomAD v4 |
1 | g.119750753G= | CA1192439232 | HMGCS2 | c.*5+44C= (n.*5+44C=) | |
1 | g.119750753G>T | CA2647398091 | HMGCS2 | c.*5+44C>A (n.*5+44C>A) | gnomAD v4 |
1 | g.119750753_119750754insT | CA1037499 | HMGCS2 | c.*5+43_*5+44insA (n.*5+43_*5+44insA) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119750754A>T | CA2647398093 | HMGCS2 | c.*5+43T>A (n.*5+43T>A) | gnomAD v4 |
1 | g.119750755C>A | CA2647398096 | HMGCS2 | c.*5+42G>T (n.*5+42G>T) | gnomAD v4 |
1 | g.119750756A>C | CA2647398097 | HMGCS2 | c.*5+41T>G (n.*5+41T>G) | gnomAD v4 |
1 | g.119750757T>C | CA1037500 | HMGCS2 | c.*5+40A>G (n.*5+40A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119750757T>G | CA2647398098 | HMGCS2 | c.*5+40A>C (n.*5+40A>C) | gnomAD v4 |
1 | g.119750757T= | CA1148217456 | HMGCS2 | c.*5+40A= (n.*5+40A=) | |
1 | g.119750758T>G | CA2647398100 | HMGCS2 | c.*5+39A>C (n.*5+39A>C) | gnomAD v4 |
1 | g.119750759A>C | CA2647398101 | HMGCS2 | c.*5+38T>G (n.*5+38T>G) | gnomAD v4 |
1 | g.119750760G>C | CA1037501 | HMGCS2 | c.*5+37C>G (n.*5+37C>G) | dbSNP ExAC gnomAD v2 |
1 | g.119750760G= | CA1192439233 | HMGCS2 | c.*5+37C= (n.*5+37C=) | |
1 | g.119750760G>T | CA2647398106 | HMGCS2 | c.*5+37C>A (n.*5+37C>A) | gnomAD v4 |
1 | g.119750761G>A | CA886261483 | HMGCS2 | c.*5+36C>T (n.*5+36C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750761G= | CA1192439234 | HMGCS2 | c.*5+36C= (n.*5+36C=) | |
1 | g.119750761G>T | CA2647398108 | HMGCS2 | c.*5+36C>A (n.*5+36C>A) | gnomAD v4 |
1 | g.119750762G>T | CA2647398111 | HMGCS2 | c.*5+35C>A (n.*5+35C>A) | gnomAD v4 |
1 | g.119750766del | CA2647398112 | HMGCS2 | c.*5+34del (n.*5+34del) | gnomAD v4 |
1 | g.119750765T>G | CA2647398113 | HMGCS2 | c.*5+32A>C (n.*5+32A>C) | gnomAD v4 |
1 | g.119750766T>C | CA1006328118 | HMGCS2 | c.*5+31A>G (n.*5+31A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750766T= | CA1192439235 | HMGCS2 | c.*5+31A= (n.*5+31A=) | |
1 | g.119750767A>G | CA2647398114 | HMGCS2 | c.*5+30T>C (n.*5+30T>C) | gnomAD v4 |
1 | g.119750768T>A | CA1037502 | HMGCS2 | c.*5+29A>T (n.*5+29A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119750768T>C | CA1037503 | HMGCS2 | c.*5+29A>G (n.*5+29A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119750768T= | CA1143389576 | HMGCS2 | c.*5+29A= (n.*5+29A=) | |
1 | g.119750769G>A | CA525749214 | HMGCS2 | c.*5+28C>T (n.*5+28C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.119750769G= | CA1192439236 | HMGCS2 | c.*5+28C= (n.*5+28C=) | |
1 | g.119750769G>T | CA2647398121 | HMGCS2 | c.*5+28C>A (n.*5+28C>A) | gnomAD v4 |
1 | g.119750770C>A | CA30269144 | HMGCS2 | c.*5+27G>T (n.*5+27G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119750770C= | CA1192439237 | HMGCS2 | c.*5+27G= (n.*5+27G=) | |
1 | g.119750770C>T | CA2647398127 | HMGCS2 | c.*5+27G>A (n.*5+27G>A) | gnomAD v4 |
1 | g.119750771_119750777dup | CA2647398125 | HMGCS2 | c.*5+21_*5+27dup (n.*5+21_*5+27dup) | gnomAD v4 |
1 | g.119750771C>A | CA1006328123 | HMGCS2 | c.*5+26G>T (n.*5+26G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750771C= | CA1140613582 | HMGCS2 | c.*5+26G= (n.*5+26G=) | |
1 | g.119750771C>G | CA1037504 | HMGCS2 | c.*5+26G>C (n.*5+26G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119750771C>T | CA2581676256 | HMGCS2 | c.*5+26G>A (n.*5+26G>A) | gnomAD v4 |
1 | g.119750772A>T | CA2574042286 | HMGCS2 | c.*5+25T>A (n.*5+25T>A) | gnomAD v4 |
1 | g.119750773C>T | CA2647398134 | HMGCS2 | c.*5+24G>A (n.*5+24G>A) | gnomAD v4 |
1 | g.119750774C>A | CA2647398137 | HMGCS2 | c.*5+23G>T (n.*5+23G>T) | gnomAD v4 |
1 | g.119750774C= | CA1148896777 | HMGCS2 | c.*5+23G= (n.*5+23G=) | |
1 | g.119750774C>G | CA525749232 | HMGCS2 | c.*5+23G>C (n.*5+23G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.119750774C>T | CA1037505 | HMGCS2 | c.*5+23G>A (n.*5+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119750775A>G | CA2647398146 | HMGCS2 | c.*5+22T>C (n.*5+22T>C) | gnomAD v4 |
1 | g.119750776A>G | CA2647398148 | HMGCS2 | c.*5+21T>C (n.*5+21T>C) | gnomAD v4 |
1 | g.119750776_119750778delinsACT | CA1192439238 | HMGCS2 | c.*5+19_*5+21delinsAGT (n.*5+19_*5+21delinsAGT) | |
1 | g.119750777C>A | CA886261489 | HMGCS2 | c.*5+20G>T (n.*5+20G>T) | dbSNP gnomAD v4 |
1 | g.119750777C= | CA1192439239 | HMGCS2 | c.*5+20G= (n.*5+20G=) | |
1 | g.119750777C>G | CA1037506 | HMGCS2 | c.*5+20G>C (n.*5+20G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119750777C>T | CA30269152 | HMGCS2 | c.*5+20G>A (n.*5+20G>A) | dbSNP gnomAD v4 |
1 | g.119750779_119750780del | CA525749240 | HMGCS2 | c.*5+19_*5+20del (n.*5+19_*5+20del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.119750778T>A | CA1037507 | HMGCS2 | c.*5+19A>T (n.*5+19A>T) | dbSNP ExAC gnomAD v4 |
1 | g.119750778T>C | CA525749258 | HMGCS2 | c.*5+19A>G (n.*5+19A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.119750778T= | CA1192439240 | HMGCS2 | c.*5+19A= (n.*5+19A=) | |
1 | g.119750779C= | CA1192439241 | HMGCS2 | c.*5+18G= (n.*5+18G=) | |
1 | g.119750779C>G | CA1037508 | HMGCS2 | c.*5+18G>C (n.*5+18G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119750779C>T | CA2647398164 | HMGCS2 | c.*5+18G>A (n.*5+18G>A) | gnomAD v4 |
1 | g.119750780T>C | CA2647398166 | HMGCS2 | c.*5+17A>G (n.*5+17A>G) | gnomAD v4 |
1 | g.119750781G>A | CA2647398167 | HMGCS2 | c.*5+16C>T (n.*5+16C>T) | gnomAD v4 |
1 | g.119750781G>T | CA2647398169 | HMGCS2 | c.*5+16C>A (n.*5+16C>A) | gnomAD v4 |
1 | g.119750782C>A | CA2647398170 | HMGCS2 | c.*5+15G>T (n.*5+15G>T) | gnomAD v4 |
1 | g.119750782C>T | CA2647398171 | HMGCS2 | c.*5+15G>A (n.*5+15G>A) | gnomAD v4 |
1 | g.119750783A>C | CA2647398173 | HMGCS2 | c.*5+14T>G (n.*5+14T>G) | gnomAD v4 |
1 | g.119750784A>C | CA2647398175 | HMGCS2 | c.*5+13T>G (n.*5+13T>G) | gnomAD v4 |
1 | g.119750785A= | CA1143782275 | HMGCS2 | c.*5+12T= (n.*5+12T=) | |
1 | g.119750785A>G | CA1037509 | HMGCS2 | c.*5+12T>C (n.*5+12T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119750786C>T | CA2647398179 | HMGCS2 | c.*5+11G>A (n.*5+11G>A) | gnomAD v4 |
1 | g.119750787T>C | CA2647398180 | HMGCS2 | c.*5+10A>G (n.*5+10A>G) | gnomAD v4 |
1 | g.119750787T>G | CA1192439243 | HMGCS2 | c.*5+10A>C (n.*5+10A>C) | dbSNP gnomAD v4 |
1 | g.119750787T= | CA1192439242 | HMGCS2 | c.*5+10A= (n.*5+10A=) | |
1 | g.119750793_119750796del | CA2574042287 | HMGCS2 | c.*5+6_*5+9del (n.*5+6_*5+9del) | gnomAD v4 |
1 | g.119750788_119750789insG | CA646206784 | HMGCS2 | c.*5+8_*5+9insC (n.*5+8_*5+9insC) | COSMIC |
1 | g.119750790C>T | CA2647398183 | HMGCS2 | c.*5+7G>A (n.*5+7G>A) | gnomAD v4 |
1 | g.119750792C>T | CA2603877777 | HMGCS2 | c.*5+5G>A (n.*5+5G>A) | gnomAD v3 gnomAD v4 |
1 | g.119750793T>A | CA2647398185 | HMGCS2 | c.*5+4A>T (n.*5+4A>T) | gnomAD v4 |
1 | g.119750793T>C | CA2647398187 | HMGCS2 | c.*5+4A>G (n.*5+4A>G) | gnomAD v4 |
1 | g.119750795A>C | CA2647398189 | HMGCS2 | c.*5+2T>G (n.*5+2T>G) | gnomAD v4 |
1 | g.119750797C>T | CA2647398191 | HMGCS2 | c.*5G>A (n.*5G>A) | gnomAD v4 |
1 | g.119750798dup | CA2647398192 | HMGCS2 | c.*4dup (n.*4dup) | gnomAD v4 |
1 | g.119750799C= | CA1192439244 | HMGCS2 | c.*3G= (n.*3G=) | |
1 | g.119750799C>T | CA1006328132 | HMGCS2 | c.*3G>A (n.*3G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750800C= | CA1192439245 | HMGCS2 | c.*2G= (n.*2G=) | |
1 | g.119750800C>T | CA525749271 | HMGCS2 | c.*2G>A (n.*2G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.119750801_119750804del | CA2647398194 | HMGCS2 | c.1525_*1del (n.[c.1525_*1del;Ter509GlyextTer?]) c.1399_*1del (n.[c.1399_*1del;Ter467GlyextTer?]) c.1360_*1del (n.[c.1360_*1del;Ter454GlyextTer?]) | gnomAD v4 |
1 | g.119750802T>A | CA341856564 | HMGCS2 | c.1527A>T (p.Ter509Tyr) c.1401A>T (p.Ter467Tyr) c.1362A>T (p.Ter454Tyr) | |
1 | g.119750802T>C | CA420020023 | HMGCS2 | c.1527A>G (p.Ter509=) c.1401A>G (p.Ter467=) c.1362A>G (p.Ter454=) | |
1 | g.119750802T>G | CA341856566 | HMGCS2 | c.1527A>C (p.Ter509Tyr) c.1401A>C (p.Ter467Tyr) c.1362A>C (p.Ter454Tyr) | |
1 | g.119750803T>A | CA341856568 | HMGCS2 | c.1526A>T (p.Ter509Leu) c.1400A>T (p.Ter467Leu) c.1361A>T (p.Ter454Leu) | |
1 | g.119750803T>C | CA420020029 | HMGCS2 | c.1526A>G (p.Ter509=) c.1400A>G (p.Ter467=) c.1361A>G (p.Ter454=) | |
1 | g.119750803T>G | CA341856570 | HMGCS2 | c.1526A>C (p.Ter509Ser) c.1400A>C (p.Ter467Ser) c.1361A>C (p.Ter454Ser) | |
1 | g.119750804A= | CA1192439246 | HMGCS2 | c.1525T= (p.Ter509=) c.1399T= (p.Ter467=) c.1360T= (p.Ter454=) | |
1 | g.119750804A>C | CA341856573 | HMGCS2 | c.1525T>G (p.Ter509Glu) c.1399T>G (p.Ter467Glu) c.1360T>G (p.Ter454Glu) | |
1 | g.119750804A>G | CA1037510 | HMGCS2 | c.1525T>C (p.Ter509Gln) c.1399T>C (p.Ter467Gln) c.1360T>C (p.Ter454Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119750804A>T | CA341856576 | HMGCS2 | c.1525T>A (p.Ter509Lys) c.1399T>A (p.Ter467Lys) c.1360T>A (p.Ter454Lys) | gnomAD v4 |
1 | g.119750805G>A | CA420020032 | HMGCS2 | c.1524C>T (p.Val508=) c.1398C>T (p.Val466=) c.1359C>T (p.Val453=) | |
1 | g.119750805G>C | CA420020034 | HMGCS2 | c.1524C>G (p.Val508=) c.1398C>G (p.Val466=) c.1359C>G (p.Val453=) | gnomAD v4 COSMIC |
1 | g.119750805G>T | CA420020037 | HMGCS2 | c.1524C>A (p.Val508=) c.1398C>A (p.Val466=) c.1359C>A (p.Val453=) | |
1 | g.119750806A>C | CA341856577 | HMGCS2 | c.1523T>G (p.Val508Gly) c.1397T>G (p.Val466Gly) c.1358T>G (p.Val453Gly) | |
1 | g.119750806A>G | CA341856578 | HMGCS2 | c.1523T>C (p.Val508Ala) c.1397T>C (p.Val466Ala) c.1358T>C (p.Val453Ala) | |
1 | g.119750806A>T | CA341856579 | HMGCS2 | c.1523T>A (p.Val508Asp) c.1397T>A (p.Val466Asp) c.1358T>A (p.Val453Asp) | |
1 | g.119750807C>A | CA341856581 | HMGCS2 | c.1522G>T (p.Val508Phe) c.1396G>T (p.Val466Phe) c.1357G>T (p.Val453Phe) | gnomAD v4 |
1 | g.119750807C= | CA1141010069 | HMGCS2 | c.1522G= (p.Val508=) c.1396G= (p.Val466=) c.1357G= (p.Val453=) | |
1 | g.119750807C>G | CA341856580 | HMGCS2 | c.1522G>C (p.Val508Leu) c.1396G>C (p.Val466Leu) c.1357G>C (p.Val453Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750807C>T | CA1037511 | HMGCS2 | c.1522G>A (p.Val508Ile) c.1396G>A (p.Val466Ile) c.1357G>A (p.Val453Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119750808G>A | CA1037512 | HMGCS2 | c.1521C>T (p.Pro507=) c.1395C>T (p.Pro465=) c.1356C>T (p.Pro452=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.119750808G>C | CA420020048 | HMGCS2 | c.1521C>G (p.Pro507=) c.1395C>G (p.Pro465=) c.1356C>G (p.Pro452=) | |
1 | g.119750808G= | CA1148168125 | HMGCS2 | c.1521C= (p.Pro507=) c.1395C= (p.Pro465=) c.1356C= (p.Pro452=) | |
1 | g.119750808G>T | CA420020046 | HMGCS2 | c.1521C>A (p.Pro507=) c.1395C>A (p.Pro465=) c.1356C>A (p.Pro452=) | gnomAD v4 |
1 | g.119750809G>A | CA341856584 | HMGCS2 | c.1520C>T (p.Pro507Leu) c.1394C>T (p.Pro465Leu) c.1355C>T (p.Pro452Leu) | gnomAD v4 |
1 | g.119750809G>C | CA341856590 | HMGCS2 | c.1520C>G (p.Pro507Arg) c.1394C>G (p.Pro465Arg) c.1355C>G (p.Pro452Arg) | |
1 | g.119750809G>T | CA341856592 | HMGCS2 | c.1520C>A (p.Pro507His) c.1394C>A (p.Pro465His) c.1355C>A (p.Pro452His) | |
1 | g.119750810G>A | CA341856594 | HMGCS2 | c.1519C>T (p.Pro507Ser) c.1393C>T (p.Pro465Ser) c.1354C>T (p.Pro452Ser) | dbSNP COSMIC |
1 | g.119750810G>C | CA1037513 | HMGCS2 | c.1519C>G (p.Pro507Ala) c.1393C>G (p.Pro465Ala) c.1354C>G (p.Pro452Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119750810G= | CA1192439247 | HMGCS2 | c.1519C= (p.Pro507=) c.1393C= (p.Pro465=) c.1354C= (p.Pro452=) | |
1 | g.119750810G>T | CA30269166 | HMGCS2 | c.1519C>A (p.Pro507Thr) c.1393C>A (p.Pro465Thr) c.1354C>A (p.Pro452Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750811A= | CA1192439248 | HMGCS2 | c.1518T= (p.Arg506=) c.1392T= (p.Arg464=) c.1353T= (p.Arg451=) | |
1 | g.119750811A>C | CA420020054 | HMGCS2 | c.1518T>G (p.Arg506=) c.1392T>G (p.Arg464=) c.1353T>G (p.Arg451=) | |
1 | g.119750811A>G | CA1037514 | HMGCS2 | c.1518T>C (p.Arg506=) c.1392T>C (p.Arg464=) c.1353T>C (p.Arg451=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119750811A>T | CA420020057 | HMGCS2 | c.1518T>A (p.Arg506=) c.1392T>A (p.Arg464=) c.1353T>A (p.Arg451=) | gnomAD v4 |
1 | g.119750812C>A | CA341856597 | HMGCS2 | c.1517G>T (p.Arg506Leu) c.1391G>T (p.Arg464Leu) c.1352G>T (p.Arg451Leu) | |
1 | g.119750812C= | CA1148190331 | HMGCS2 | c.1517G= (p.Arg506=) c.1391G= (p.Arg464=) c.1352G= (p.Arg451=) | |
1 | g.119750812C>G | CA341856599 | HMGCS2 | c.1517G>C (p.Arg506Pro) c.1391G>C (p.Arg464Pro) c.1352G>C (p.Arg451Pro) | COSMIC |
1 | g.119750812C>T | CA1037515 | HMGCS2 | c.1517G>A (p.Arg506His) c.1391G>A (p.Arg464His) c.1352G>A (p.Arg451His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119750813G>A | CA1037516 | HMGCS2 | c.1516C>T (p.Arg506Cys) c.1390C>T (p.Arg464Cys) c.1351C>T (p.Arg451Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.119750813G>C | CA341856602 | HMGCS2 | c.1516C>G (p.Arg506Gly) c.1390C>G (p.Arg464Gly) c.1351C>G (p.Arg451Gly) | |
1 | g.119750813G= | CA1144002988 | HMGCS2 | c.1516C= (p.Arg506=) c.1390C= (p.Arg464=) c.1351C= (p.Arg451=) | |
1 | g.119750813G>T | CA341856601 | HMGCS2 | c.1516C>A (p.Arg506Ser) c.1390C>A (p.Arg464Ser) c.1351C>A (p.Arg451Ser) | |
1 | g.119750814C>A | CA420020072 | HMGCS2 | c.1515G>T (p.Arg505=) c.1389G>T (p.Arg463=) c.1350G>T (p.Arg450=) | dbSNP gnomAD v2 |
1 | g.119750814C= | CA1192439249 | HMGCS2 | c.1515G= (p.Arg505=) c.1389G= (p.Arg463=) c.1350G= (p.Arg450=) | |
1 | g.119750814C>G | CA420020073 | HMGCS2 | c.1515G>C (p.Arg505=) c.1389G>C (p.Arg463=) c.1350G>C (p.Arg450=) | |
1 | g.119750814C>T | CA420020074 | HMGCS2 | c.1515G>A (p.Arg505=) c.1389G>A (p.Arg463=) c.1350G>A (p.Arg450=) | |
1 | g.119750815C>A | CA341856603 | HMGCS2 | c.1514G>T (p.Arg505Leu) c.1388G>T (p.Arg463Leu) c.1349G>T (p.Arg450Leu) | |
1 | g.119750815C= | CA1192439250 | HMGCS2 | c.1514G= (p.Arg505=) c.1388G= (p.Arg463=) c.1349G= (p.Arg450=) | |
1 | g.119750815C>G | CA341856605 | HMGCS2 | c.1514G>C (p.Arg505Pro) c.1388G>C (p.Arg463Pro) c.1349G>C (p.Arg450Pro) | gnomAD v4 |
1 | g.119750815C>T | CA1037517 | HMGCS2 | c.1514G>A (p.Arg505Gln) c.1388G>A (p.Arg463Gln) c.1349G>A (p.Arg450Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119750815_119750816delinsCG | CA1192439251 | HMGCS2 | c.1513_1514delinsCG (p.Arg505=) c.1387_1388delinsCG (p.Arg463=) c.1348_1349delinsCG (p.Arg450=) | |
1 | g.119750816G>A | CA1037518 | HMGCS2 | c.1513C>T (p.Arg505Trp) c.1387C>T (p.Arg463Trp) c.1348C>T (p.Arg450Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119750816G>C | CA30269185 | HMGCS2 | c.1513C>G (p.Arg505Gly) c.1387C>G (p.Arg463Gly) c.1348C>G (p.Arg450Gly) | dbSNP |
1 | g.119750816G= | CA1192439252 | HMGCS2 | c.1513C= (p.Arg505=) c.1387C= (p.Arg463=) c.1348C= (p.Arg450=) | |
1 | g.119750816G>T | CA420020089 | HMGCS2 | c.1513C>A (p.Arg505=) c.1387C>A (p.Arg463=) c.1348C>A (p.Arg450=) | |
1 | g.119750818del | CA525749308 | HMGCS2 | c.1513del (p.Arg505GlyfsTer?) c.1387del (p.Arg463GlyfsTer?) c.1348del (p.Arg450GlyfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119750817G>A | CA420020090 | HMGCS2 | c.1512C>T (p.Ala504=) c.1386C>T (p.Ala462=) c.1347C>T (p.Ala449=) | |
1 | g.119750817G>C | CA420020091 | HMGCS2 | c.1512C>G (p.Ala504=) c.1386C>G (p.Ala462=) c.1347C>G (p.Ala449=) | |
1 | g.119750817G>T | CA420020093 | HMGCS2 | c.1512C>A (p.Ala504=) c.1386C>A (p.Ala462=) c.1347C>A (p.Ala449=) | gnomAD v4 |
1 | g.119750818G>A | CA1037519 | HMGCS2 | c.1511C>T (p.Ala504Val) c.1385C>T (p.Ala462Val) c.1346C>T (p.Ala449Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119750818G>C | CA341856609 | HMGCS2 | c.1511C>G (p.Ala504Gly) c.1385C>G (p.Ala462Gly) c.1346C>G (p.Ala449Gly) | |
1 | g.119750818G= | CA1192439253 | HMGCS2 | c.1511C= (p.Ala504=) c.1385C= (p.Ala462=) c.1346C= (p.Ala449=) | |
1 | g.119750818G>T | CA341856608 | HMGCS2 | c.1511C>A (p.Ala504Asp) c.1385C>A (p.Ala462Asp) c.1346C>A (p.Ala449Asp) | |
1 | g.119750819C>A | CA341856610 | HMGCS2 | c.1510G>T (p.Ala504Ser) c.1384G>T (p.Ala462Ser) c.1345G>T (p.Ala449Ser) | |
1 | g.119750819C>G | CA341856614 | HMGCS2 | c.1510G>C (p.Ala504Pro) c.1384G>C (p.Ala462Pro) c.1345G>C (p.Ala449Pro) | |
1 | g.119750819C>T | CA341856616 | HMGCS2 | c.1510G>A (p.Ala504Thr) c.1384G>A (p.Ala462Thr) c.1345G>A (p.Ala449Thr) | |
1 | g.119750820A= | CA1192439254 | HMGCS2 | c.1509T= (p.Tyr503=) c.1383T= (p.Tyr461=) c.1344T= (p.Tyr448=) | |
1 | g.119750820A>C | CA341856618 | HMGCS2 | c.1509T>G (p.Tyr503Ter) c.1383T>G (p.Tyr461Ter) c.1344T>G (p.Tyr448Ter) | gnomAD v4 |
1 | g.119750820A>G | CA1037520 | HMGCS2 | c.1509T>C (p.Tyr503=) c.1383T>C (p.Tyr461=) c.1344T>C (p.Tyr448=) | dbSNP ExAC gnomAD v2 |
1 | g.119750820A>T | CA341856621 | HMGCS2 | c.1509T>A (p.Tyr503Ter) c.1383T>A (p.Tyr461Ter) c.1344T>A (p.Tyr448Ter) | |
1 | g.119750821T>A | CA341856624 | HMGCS2 | c.1508A>T (p.Tyr503Phe) c.1382A>T (p.Tyr461Phe) c.1343A>T (p.Tyr448Phe) | |
1 | g.119750821T>C | CA341856627 | HMGCS2 | c.1508A>G (p.Tyr503Cys) c.1382A>G (p.Tyr461Cys) c.1343A>G (p.Tyr448Cys) | |
1 | g.119750821T>G | CA341856625 | HMGCS2 | c.1508A>C (p.Tyr503Ser) c.1382A>C (p.Tyr461Ser) c.1343A>C (p.Tyr448Ser) | |
1 | g.119750822A>C | CA341856629 | HMGCS2 | c.1507T>G (p.Tyr503Asp) c.1381T>G (p.Tyr461Asp) c.1342T>G (p.Tyr448Asp) | |
1 | g.119750822A>G | CA341856631 | HMGCS2 | c.1507T>C (p.Tyr503His) c.1381T>C (p.Tyr461His) c.1342T>C (p.Tyr448His) | |
1 | g.119750822A>T | CA341856633 | HMGCS2 | c.1507T>A (p.Tyr503Asn) c.1381T>A (p.Tyr461Asn) c.1342T>A (p.Tyr448Asn) | |
1 | g.119750823C>A | CA341856634 | HMGCS2 | c.1506G>T (p.Lys502Asn) c.1380G>T (p.Lys460Asn) c.1341G>T (p.Lys447Asn) | |
1 | g.119750823C>G | CA341856635 | HMGCS2 | c.1506G>C (p.Lys502Asn) c.1380G>C (p.Lys460Asn) c.1341G>C (p.Lys447Asn) | |
1 | g.119750823C>T | CA420020111 | HMGCS2 | c.1506G>A (p.Lys502=) c.1380G>A (p.Lys460=) c.1341G>A (p.Lys447=) | |
1 | g.119750824T>A | CA341856636 | HMGCS2 | c.1505A>T (p.Lys502Met) c.1379A>T (p.Lys460Met) c.1340A>T (p.Lys447Met) | |
1 | g.119750824T>C | CA341856637 | HMGCS2 | c.1505A>G (p.Lys502Arg) c.1379A>G (p.Lys460Arg) c.1340A>G (p.Lys447Arg) | |
1 | g.119750824T>G | CA341856638 | HMGCS2 | c.1505A>C (p.Lys502Thr) c.1379A>C (p.Lys460Thr) c.1340A>C (p.Lys447Thr) | |
1 | g.119750825T>A | CA341856639 | HMGCS2 | c.1504A>T (p.Lys502Ter) c.1378A>T (p.Lys460Ter) c.1339A>T (p.Lys447Ter) | |
1 | g.119750825T>C | CA341856640 | HMGCS2 | c.1504A>G (p.Lys502Glu) c.1378A>G (p.Lys460Glu) c.1339A>G (p.Lys447Glu) | |
1 | g.119750825T>G | CA341856641 | HMGCS2 | c.1504A>C (p.Lys502Gln) c.1378A>C (p.Lys460Gln) c.1339A>C (p.Lys447Gln) | |
1 | g.119750826T>A | CA420020116 | HMGCS2 | c.1503A>T (p.Arg501=) c.1377A>T (p.Arg459=) c.1338A>T (p.Arg446=) | |
1 | g.119750826T>C | CA420020120 | HMGCS2 | c.1503A>G (p.Arg501=) c.1377A>G (p.Arg459=) c.1338A>G (p.Arg446=) | |
1 | g.119750826T>G | CA420020118 | HMGCS2 | c.1503A>C (p.Arg501=) c.1377A>C (p.Arg459=) c.1338A>C (p.Arg446=) | |
1 | g.119750827C>A | CA341856648 | HMGCS2 | c.1502G>T (p.Arg501Leu) c.1376G>T (p.Arg459Leu) c.1337G>T (p.Arg446Leu) | |
1 | g.119750827C= | CA1143838539 | HMGCS2 | c.1502G= (p.Arg501=) c.1376G= (p.Arg459=) c.1337G= (p.Arg446=) | |
1 | g.119750827C>G | CA30269195 | HMGCS2 | c.1502G>C (p.Arg501Pro) c.1376G>C (p.Arg459Pro) c.1337G>C (p.Arg446Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.119750827C>T | CA30269205 | HMGCS2 | c.1502G>A (p.Arg501Gln) c.1376G>A (p.Arg459Gln) c.1337G>A (p.Arg446Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |