OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| 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.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 |
| 1 | g.119750828G>A | CA1037521 | HMGCS2 | c.1501C>T (p.Arg501Ter) c.1375C>T (p.Arg459Ter) c.1336C>T (p.Arg446Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.119750828G>C | CA341856649 | HMGCS2 | c.1501C>G (p.Arg501Gly) c.1375C>G (p.Arg459Gly) c.1336C>G (p.Arg446Gly) | gnomAD v4 |
| 1 | g.119750828G= | CA1192439255 | HMGCS2 | c.1501C= (p.Arg501=) c.1375C= (p.Arg459=) c.1336C= (p.Arg446=) | |
| 1 | g.119750828G>T | CA420020131 | HMGCS2 | c.1501C>A (p.Arg501=) c.1375C>A (p.Arg459=) c.1336C>A (p.Arg446=) | |
| 1 | g.119750829G>A | CA420020133 | HMGCS2 | c.1500C>T (p.Arg500=) c.1374C>T (p.Arg458=) c.1335C>T (p.Arg445=) | gnomAD v4 |
| 1 | g.119750829G>C | CA420020134 | HMGCS2 | c.1500C>G (p.Arg500=) c.1374C>G (p.Arg458=) c.1335C>G (p.Arg445=) | |
| 1 | g.119750829G>T | CA420020135 | HMGCS2 | c.1500C>A (p.Arg500=) c.1374C>A (p.Arg458=) c.1335C>A (p.Arg445=) | |
| 1 | g.119750830C>A | CA341856651 | HMGCS2 | c.1499G>T (p.Arg500Leu) c.1373G>T (p.Arg458Leu) c.1334G>T (p.Arg445Leu) | |
| 1 | g.119750830C= | CA1141581013 | HMGCS2 | c.1499G= (p.Arg500=) c.1373G= (p.Arg458=) c.1334G= (p.Arg445=) | |
| 1 | g.119750830C>G | CA341856658 | HMGCS2 | c.1499G>C (p.Arg500Pro) c.1373G>C (p.Arg458Pro) c.1334G>C (p.Arg445Pro) | |
| 1 | g.119750830C>T | CA120258 | HMGCS2 | c.1499G>A (p.Arg500His) c.1373G>A (p.Arg458His) c.1334G>A (p.Arg445His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.119750831G>A | CA1037522 | HMGCS2 | c.1498C>T (p.Arg500Cys) c.1372C>T (p.Arg458Cys) c.1333C>T (p.Arg445Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.119750831G>C | CA341856661 | HMGCS2 | c.1498C>G (p.Arg500Gly) c.1372C>G (p.Arg458Gly) c.1333C>G (p.Arg445Gly) | |
| 1 | g.119750831G= | CA1192439256 | HMGCS2 | c.1498C= (p.Arg500=) c.1372C= (p.Arg458=) c.1333C= (p.Arg445=) | |
| 1 | g.119750831G>T | CA341856663 | HMGCS2 | c.1498C>A (p.Arg500Ser) c.1372C>A (p.Arg458Ser) c.1333C>A (p.Arg445Ser) | |
| 1 | g.119750832A>C | CA341856669 | HMGCS2 | c.1497T>G (p.His499Gln) c.1371T>G (p.His457Gln) c.1332T>G (p.His444Gln) | |
| 1 | g.119750832A>G | CA420020144 | HMGCS2 | c.1497T>C (p.His499=) c.1371T>C (p.His457=) c.1332T>C (p.His444=) | |
| 1 | g.119750832A>T | CA341856671 | HMGCS2 | c.1497T>A (p.His499Gln) c.1371T>A (p.His457Gln) c.1332T>A (p.His444Gln) |