1 | g.119750642dup | CA1192439179 | HMGCS2 | c.*5+159dup (n.*5+159dup)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750642del | CA2696855893 | HMGCS2 | c.*5+159del (n.*5+159del)
| dbSNP |
1 | g.119750644T>C | CA30266251 | HMGCS2 | c.*5+153A>G (n.*5+153A>G)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750644T= | CA1148135235 | HMGCS2 | c.*5+153A= (n.*5+153A=)
| |
1 | g.119750645C>A | CA646206783 | HMGCS2 | c.*5+152G>T (n.*5+152G>T)
| COSMIC |
1 | g.119750645C= | CA1192439180 | HMGCS2 | c.*5+152G= (n.*5+152G=)
| |
1 | g.119750645C>T | CA1192439181 | HMGCS2 | c.*5+152G>A (n.*5+152G>A)
| dbSNP |
1 | g.119750646C= | CA1192439182 | HMGCS2 | c.*5+151G= (n.*5+151G=)
| |
1 | g.119750646C>T | CA1192439183 | HMGCS2 | c.*5+151G>A (n.*5+151G>A)
| dbSNP |
1 | g.119750647A>G | CA2647397844 | HMGCS2 | c.*5+150T>C (n.*5+150T>C)
| gnomAD v4 |
1 | g.119750648C>A | CA2647397861 | HMGCS2 | c.*5+149G>T (n.*5+149G>T)
| gnomAD v4 |
1 | g.119750648C= | CA1192439184 | HMGCS2 | c.*5+149G= (n.*5+149G=)
| |
1 | g.119750648C>T | CA1006328035 | HMGCS2 | c.*5+149G>A (n.*5+149G>A)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750649A= | CA1192439185 | HMGCS2 | c.*5+148T= (n.*5+148T=)
| |
1 | g.119750649A>C | CA30266252 | HMGCS2 | c.*5+148T>G (n.*5+148T>G)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750650G>C | CA886261431 | HMGCS2 | c.*5+147C>G (n.*5+147C>G)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750650G= | CA1192439186 | HMGCS2 | c.*5+147C= (n.*5+147C=)
| |
1 | g.119750650G>T | CA2647397874 | HMGCS2 | c.*5+147C>A (n.*5+147C>A)
| gnomAD v4 |
1 | g.119750651A= | CA1192439187 | HMGCS2 | c.*5+146T= (n.*5+146T=)
| |
1 | g.119750651A>G | CA886261434 | HMGCS2 | c.*5+146T>C (n.*5+146T>C)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750652T>C | CA2647397881 | HMGCS2 | c.*5+145A>G (n.*5+145A>G)
| gnomAD v4 |
1 | g.119750653A>T | CA2647397883 | HMGCS2 | c.*5+144T>A (n.*5+144T>A)
| gnomAD v4 |
1 | g.119750658T>A | CA1192439189 | HMGCS2 | c.*5+139A>T (n.*5+139A>T)
| dbSNP |
1 | g.119750658T>C | CA2647397885 | HMGCS2 | c.*5+139A>G (n.*5+139A>G)
| gnomAD v4 |
1 | g.119750658T= | CA1192439188 | HMGCS2 | c.*5+139A= (n.*5+139A=)
| |
1 | g.119750661C>T | CA2647397887 | HMGCS2 | c.*5+136G>A (n.*5+136G>A)
| gnomAD v4 |
1 | g.119750666C>T | CA2647397888 | HMGCS2 | c.*5+131G>A (n.*5+131G>A)
| gnomAD v4 |
1 | g.119750668C>A | CA2647397891 | HMGCS2 | c.*5+129G>T (n.*5+129G>T)
| gnomAD v4 |
1 | g.119750668C= | CA1192439190 | HMGCS2 | c.*5+129G= (n.*5+129G=)
| |
1 | g.119750668C>T | CA1006328040 | HMGCS2 | c.*5+129G>A (n.*5+129G>A)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750669C= | CA1192439191 | HMGCS2 | c.*5+128G= (n.*5+128G=)
| |
1 | g.119750669C>T | CA1192439192 | HMGCS2 | c.*5+128G>A (n.*5+128G>A)
| dbSNP gnomAD v4 |
1 | g.119750670T>C | CA30269081 | HMGCS2 | c.*5+127A>G (n.*5+127A>G)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750670T= | CA1142761786 | HMGCS2 | c.*5+127A= (n.*5+127A=)
| |
1 | g.119750671G>C | CA2696967884 | HMGCS2 | c.*5+126C>G (n.*5+126C>G)
| dbSNP |
1 | g.119750671G>T | CA2647397903 | HMGCS2 | c.*5+126C>A (n.*5+126C>A)
| gnomAD v4 |
1 | g.119750674A>G | CA2647397904 | HMGCS2 | c.*5+123T>C (n.*5+123T>C)
| gnomAD v4 |
1 | g.119750675C>A | CA2647397907 | HMGCS2 | c.*5+122G>T (n.*5+122G>T)
| gnomAD v4 |
1 | g.119750678del | CA2647397906 | HMGCS2 | c.*5+122del (n.*5+122del)
| gnomAD v4 |
1 | g.119750676C>A | CA2647397908 | HMGCS2 | c.*5+121G>T (n.*5+121G>T)
| gnomAD v4 |
1 | g.119750676C>T | CA2647397909 | HMGCS2 | c.*5+121G>A (n.*5+121G>A)
| gnomAD v4 |
1 | g.119750677C>A | CA886261447 | HMGCS2 | c.*5+120G>T (n.*5+120G>T)
| dbSNP gnomAD v4 |
1 | g.119750677C= | CA1192439193 | HMGCS2 | c.*5+120G= (n.*5+120G=)
| |
1 | g.119750677C>T | CA2647397911 | HMGCS2 | c.*5+120G>A (n.*5+120G>A)
| gnomAD v4 |
1 | g.119750678C= | CA1192439194 | HMGCS2 | c.*5+119G= (n.*5+119G=)
| |
1 | g.119750678C>T | CA1192439195 | HMGCS2 | c.*5+119G>A (n.*5+119G>A)
| dbSNP |
1 | g.119750679A>T | CA2647397914 | HMGCS2 | c.*5+118T>A (n.*5+118T>A)
| gnomAD v4 |
1 | g.119750682C>A | CA2647397916 | HMGCS2 | c.*5+115G>T (n.*5+115G>T)
| gnomAD v4 |
1 | g.119750683C>A | CA2647397918 | HMGCS2 | c.*5+114G>T (n.*5+114G>T)
| gnomAD v4 |
1 | g.119750683C>T | CA2647397920 | HMGCS2 | c.*5+114G>A (n.*5+114G>A)
| gnomAD v4 |
1 | g.119750685C>A | CA2647397923 | HMGCS2 | c.*5+112G>T (n.*5+112G>T)
| gnomAD v4 |
1 | g.119750686T>C | CA886261448 | HMGCS2 | c.*5+111A>G (n.*5+111A>G)
| dbSNP |
1 | g.119750686T= | CA1192439196 | HMGCS2 | c.*5+111A= (n.*5+111A=)
| |
1 | g.119750687T>C | CA2647397924 | HMGCS2 | c.*5+110A>G (n.*5+110A>G)
| gnomAD v4 |
1 | g.119750687T>G | CA886261450 | HMGCS2 | c.*5+110A>C (n.*5+110A>C)
| dbSNP |
1 | g.119750687T= | CA1192439197 | HMGCS2 | c.*5+110A= (n.*5+110A=)
| |
1 | g.119750687_119750688delinsTC | CA1192439198 | HMGCS2 | c.*5+109_*5+110delinsGA (n.*5+109_*5+110delinsGA)
| |
1 | g.119750688C>A | CA2647397931 | HMGCS2 | c.*5+109G>T (n.*5+109G>T)
| gnomAD v4 |
1 | g.119750688C>T | CA2647397933 | HMGCS2 | c.*5+109G>A (n.*5+109G>A)
| gnomAD v4 |
1 | g.119750689del | CA1006328044 | HMGCS2 | c.*5+109del (n.*5+109del)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750690A= | CA1192439199 | HMGCS2 | c.*5+107T= (n.*5+107T=)
| |
1 | g.119750690A>G | CA1192439200 | HMGCS2 | c.*5+107T>C (n.*5+107T>C)
| dbSNP gnomAD v4 |
1 | g.119750691T>C | CA30269092 | HMGCS2 | c.*5+106A>G (n.*5+106A>G)
| dbSNP gnomAD v4 |
1 | g.119750691T>G | CA2647397939 | HMGCS2 | c.*5+106A>C (n.*5+106A>C)
| gnomAD v4 |
1 | g.119750691T= | CA1192439201 | HMGCS2 | c.*5+106A= (n.*5+106A=)
| |
1 | g.119750693A>T | CA2647397941 | HMGCS2 | c.*5+104T>A (n.*5+104T>A)
| gnomAD v4 |
1 | g.119750695A= | CA1192439202 | HMGCS2 | c.*5+102T= (n.*5+102T=)
| |
1 | g.119750695A>G | CA525749163 | HMGCS2 | c.*5+102T>C (n.*5+102T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119750696C= | CA1192439203 | HMGCS2 | c.*5+101G= (n.*5+101G=)
| |
1 | g.119750696C>T | CA1006328050 | HMGCS2 | c.*5+101G>A (n.*5+101G>A)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750697T>C | CA2647397950 | HMGCS2 | c.*5+100A>G (n.*5+100A>G)
| gnomAD v4 |
1 | g.119750698T>G | CA1192439205 | HMGCS2 | c.*5+99A>C (n.*5+99A>C)
| dbSNP |
1 | g.119750698T= | CA1192439204 | HMGCS2 | c.*5+99A= (n.*5+99A=)
| |
1 | g.119750700C>A | CA30269094 | HMGCS2 | c.*5+97G>T (n.*5+97G>T)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750700C= | CA1192439206 | HMGCS2 | c.*5+97G= (n.*5+97G=)
| |
1 | g.119750703C>A | CA2647397952 | HMGCS2 | c.*5+94G>T (n.*5+94G>T)
| gnomAD v4 |
1 | g.119750703C>T | CA2647397951 | HMGCS2 | c.*5+94G>A (n.*5+94G>A)
| gnomAD v4 |
1 | g.119750704T>C | CA2647397953 | HMGCS2 | c.*5+93A>G (n.*5+93A>G)
| gnomAD v4 |
1 | g.119750705C>A | CA2647397954 | HMGCS2 | c.*5+92G>T (n.*5+92G>T)
| gnomAD v4 |
1 | g.119750705C= | CA1192439207 | HMGCS2 | c.*5+92G= (n.*5+92G=)
| |
1 | g.119750705C>T | CA1006328073 | HMGCS2 | c.*5+92G>A (n.*5+92G>A)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750706C= | CA1192439208 | HMGCS2 | c.*5+91G= (n.*5+91G=)
| |
1 | g.119750706C>T | CA1192439209 | HMGCS2 | c.*5+91G>A (n.*5+91G>A)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750707C>A | CA2647397956 | HMGCS2 | c.*5+90G>T (n.*5+90G>T)
| gnomAD v4 |
1 | g.119750707C= | CA1192439210 | HMGCS2 | c.*5+90G= (n.*5+90G=)
| |
1 | g.119750707C>T | CA1192439211 | HMGCS2 | c.*5+90G>A (n.*5+90G>A)
| dbSNP gnomAD v4 |
1 | g.119750708T>C | CA2647397957 | HMGCS2 | c.*5+89A>G (n.*5+89A>G)
| gnomAD v4 |
1 | g.119750708T>G | CA2647397959 | HMGCS2 | c.*5+89A>C (n.*5+89A>C)
| gnomAD v4 |
1 | g.119750709G>A | CA2647397962 | HMGCS2 | c.*5+88C>T (n.*5+88C>T)
| gnomAD v4 |
1 | g.119750709G>T | CA2574042279 | HMGCS2 | c.*5+88C>A (n.*5+88C>A)
| gnomAD v4 |
1 | g.119750710C>A | CA886261459 | HMGCS2 | c.*5+87G>T (n.*5+87G>T)
| dbSNP |
1 | g.119750710C= | CA1192439212 | HMGCS2 | c.*5+87G= (n.*5+87G=)
| |
1 | g.119750710C>T | CA2574042281 | HMGCS2 | c.*5+87G>A (n.*5+87G>A)
| gnomAD v4 |
1 | g.119750712C>A | CA1006328088 | HMGCS2 | c.*5+85G>T (n.*5+85G>T)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750712C= | CA1192439213 | HMGCS2 | c.*5+85G= (n.*5+85G=)
| |
1 | g.119750712C>T | CA1006328094 | HMGCS2 | c.*5+85G>A (n.*5+85G>A)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750713C>A | CA2647397968 | HMGCS2 | c.*5+84G>T (n.*5+84G>T)
| dbSNP gnomAD v4 |
1 | g.119750713C>G | CA2647397969 | HMGCS2 | c.*5+84G>C (n.*5+84G>C)
| gnomAD v4 |
1 | g.119750713C>T | CA2647397970 | HMGCS2 | c.*5+84G>A (n.*5+84G>A)
| gnomAD v4 |
1 | g.119750714del | CA2647397973 | HMGCS2 | c.*5+83del (n.*5+83del)
| gnomAD v4 |
1 | g.119750714T>C | CA2647397971 | HMGCS2 | c.*5+83A>G (n.*5+83A>G)
| gnomAD v4 |
1 | g.119750714T>G | CA2647397972 | HMGCS2 | c.*5+83A>C (n.*5+83A>C)
| gnomAD v4 |
1 | g.119750715G>A | CA2574042282 | HMGCS2 | c.*5+82C>T (n.*5+82C>T)
| gnomAD v4 |
1 | g.119750715G>C | CA2696967890 | HMGCS2 | c.*5+82C>G (n.*5+82C>G)
| dbSNP |
1 | g.119750715G>T | CA2647397976 | HMGCS2 | c.*5+82C>A (n.*5+82C>A)
| gnomAD v4 |
1 | g.119750715_119750716delinsGT | CA1192439214 | HMGCS2 | c.*5+81_*5+82delinsAC (n.*5+81_*5+82delinsAC)
| |
1 | g.119750716del | CA886261461 | HMGCS2 | c.*5+81del (n.*5+81del)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750716T>C | CA2647397979 | HMGCS2 | c.*5+81A>G (n.*5+81A>G)
| gnomAD v4 |
1 | g.119750717C>A | CA2647397981 | HMGCS2 | c.*5+80G>T (n.*5+80G>T)
| gnomAD v4 |
1 | g.119750717C= | CA1192439215 | HMGCS2 | c.*5+80G= (n.*5+80G=)
| |
1 | g.119750717C>T | CA30269097 | HMGCS2 | c.*5+80G>A (n.*5+80G>A)
| dbSNP gnomAD v4 |
1 | g.119750718C>A | CA2647397985 | HMGCS2 | c.*5+79G>T (n.*5+79G>T)
| gnomAD v4 |
1 | g.119750719C>A | CA2647397987 | HMGCS2 | c.*5+78G>T (n.*5+78G>T)
| gnomAD v4 |
1 | g.119750719C>G | CA2647397988 | HMGCS2 | c.*5+78G>C (n.*5+78G>C)
| gnomAD v4 |
1 | g.119750719C>T | CA2647397989 | HMGCS2 | c.*5+78G>A (n.*5+78G>A)
| gnomAD v4 |
1 | g.119750720C>A | CA2647397990 | HMGCS2 | c.*5+77G>T (n.*5+77G>T)
| gnomAD v4 |
1 | g.119750721A>T | CA2647397991 | HMGCS2 | c.*5+76T>A (n.*5+76T>A)
| gnomAD v4 |
1 | g.119750722C>A | CA886261468 | HMGCS2 | c.*5+75G>T (n.*5+75G>T)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.119750722C= | CA1192439216 | HMGCS2 | c.*5+75G= (n.*5+75G=)
| |
1 | g.119750722C>T | CA525749166 | HMGCS2 | c.*5+75G>A (n.*5+75G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119750723C>A | CA2647397995 | HMGCS2 | c.*5+74G>T (n.*5+74G>T)
| gnomAD v4 |
1 | g.119750723C>T | CA2647397996 | HMGCS2 | c.*5+74G>A (n.*5+74G>A)
| gnomAD v4 |
1 | g.119750723_119750724insCCCCCCCCCCCCCCCCCCCTTT | CA2548089733 | HMGCS2 | c.*5+73_*5+74insAAAGGGGGGGGGGGGGGGGGGG (n.*5+73_*5+74insAAAGGGGGGGGGGGGGGGGGGG)
| |
1 | g.119750724T>C | CA2647397997 | HMGCS2 | c.*5+73A>G (n.*5+73A>G)
| gnomAD v4 |
1 | g.119750724T>G | CA525749170 | HMGCS2 | c.*5+73A>C (n.*5+73A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119750724T= | CA1192439217 | HMGCS2 | c.*5+73A= (n.*5+73A=)
| |
1 | g.119750725T>G | CA2647398000 | HMGCS2 | c.*5+72A>C (n.*5+72A>C)
| gnomAD v4 |
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.119750726C= | CA1192439218 | HMGCS2 | c.*5+71G= (n.*5+71G=)
| |
1 | g.119750726C>G | CA2647398003 | HMGCS2 | c.*5+71G>C (n.*5+71G>C)
| gnomAD v4 |
1 | g.119750726C>T | CA525749173 | HMGCS2 | c.*5+71G>A (n.*5+71G>A)
| dbSNP gnomAD v2 gnomAD v3 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=)
| |