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 |
|---|---|---|---|---|---|
| 19 | g.19110790A= | CA2326684831 | SLC25A42 | c.871A= (p.Asn291=) c.1063A= (p.Asn355=) | |
| 19 | g.19110790A>C | CA404898143 | SLC25A42 | c.871A>C (p.Asn291His) c.1063A>C (p.Asn355His) | |
| 19 | g.19110790A>G | CA279953 | SLC25A42 | c.871A>G (p.Asn291Asp) c.1063A>G (p.Asn355Asp) | ClinVar dbSNP |
| 19 | g.19110790A>T | CA404898144 | SLC25A42 | c.871A>T (p.Asn291Tyr) c.1063A>T (p.Asn355Tyr) | |
| 19 | g.19110791A>C | CA404898148 | SLC25A42 | c.872A>C (p.Asn291Thr) c.1064A>C (p.Asn355Thr) | |
| 19 | g.19110791A>G | CA404898147 | SLC25A42 | c.872A>G (p.Asn291Ser) c.1064A>G (p.Asn355Ser) | gnomAD v4 |
| 19 | g.19110791A>T | CA404898146 | SLC25A42 | c.872A>T (p.Asn291Ile) c.1064A>T (p.Asn355Ile) | |
| 19 | g.19110792C>A | CA404898151 | SLC25A42 | c.873C>A (p.Asn291Lys) c.1065C>A (p.Asn355Lys) | gnomAD v4 |
| 19 | g.19110792C>G | CA404898150 | SLC25A42 | c.873C>G (p.Asn291Lys) c.1065C>G (p.Asn355Lys) | gnomAD v4 |
| 19 | g.19110792C>T | CA506060281 | SLC25A42 | c.873C>T (p.Asn291=) c.1065C>T (p.Asn355=) | |
| 19 | g.19110793T>A | CA404898153 | SLC25A42 | c.874T>A (p.Trp292Arg) c.1066T>A (p.Trp356Arg) | |
| 19 | g.19110793T>C | CA404898155 | SLC25A42 | c.874T>C (p.Trp292Arg) c.1066T>C (p.Trp356Arg) | |
| 19 | g.19110793T>G | CA404898157 | SLC25A42 | c.874T>G (p.Trp292Gly) c.1066T>G (p.Trp356Gly) | |
| 19 | g.19110794G>A | CA404898158 | SLC25A42 | c.875G>A (p.Trp292Ter) c.1067G>A (p.Trp356Ter) | |
| 19 | g.19110794G>C | CA404898160 | SLC25A42 | c.875G>C (p.Trp292Ser) c.1067G>C (p.Trp356Ser) | |
| 19 | g.19110794G>T | CA404898162 | SLC25A42 | c.875G>T (p.Trp292Leu) c.1067G>T (p.Trp356Leu) | |
| 19 | g.19110795G>A | CA404898163 | SLC25A42 | c.876G>A (p.Trp292Ter) c.1068G>A (p.Trp356Ter) | gnomAD v4 |
| 19 | g.19110795G>C | CA404898165 | SLC25A42 | c.876G>C (p.Trp292Cys) c.1068G>C (p.Trp356Cys) | dbSNP |
| 19 | g.19110795G= | CA2326684832 | SLC25A42 | c.876G= (p.Trp292=) c.1068G= (p.Trp356=) | |
| 19 | g.19110795G>T | CA404898166 | SLC25A42 | c.876G>T (p.Trp292Cys) c.1068G>T (p.Trp356Cys) | |
| 19 | g.19110796G>A | CA404898168 | SLC25A42 | c.877G>A (p.Val293Ile) c.1069G>A (p.Val357Ile) | |
| 19 | g.19110796G>C | CA404898169 | SLC25A42 | c.877G>C (p.Val293Leu) c.1069G>C (p.Val357Leu) | gnomAD v4 |
| 19 | g.19110796G= | CA2326684833 | SLC25A42 | c.877G= (p.Val293=) c.1069G= (p.Val357=) | |
| 19 | g.19110796G>T | CA404898171 | SLC25A42 | c.877G>T (p.Val293Phe) c.1069G>T (p.Val357Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19110797T>A | CA404898177 | SLC25A42 | c.878T>A (p.Val293Asp) c.1070T>A (p.Val357Asp) | |
| 19 | g.19110797T>C | CA404898174 | SLC25A42 | c.878T>C (p.Val293Ala) c.1070T>C (p.Val357Ala) | |
| 19 | g.19110797T>G | CA404898176 | SLC25A42 | c.878T>G (p.Val293Gly) c.1070T>G (p.Val357Gly) | |
| 19 | g.19110798C>A | CA506060282 | SLC25A42 | c.879C>A (p.Val293=) c.1071C>A (p.Val357=) | gnomAD v4 |
| 19 | g.19110798C= | CA2326684834 | SLC25A42 | c.879C= (p.Val293=) c.1071C= (p.Val357=) | |
| 19 | g.19110798C>G | CA506060283 | SLC25A42 | c.879C>G (p.Val293=) c.1071C>G (p.Val357=) | |
| 19 | g.19110798C>T | CA9321586 | SLC25A42 | c.879C>T (p.Val293=) c.1071C>T (p.Val357=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19110799A= | CA2326684835 | SLC25A42 | c.880A= (p.Lys294=) c.1072A= (p.Lys358=) | |
| 19 | g.19110799A>C | CA404898180 | SLC25A42 | c.880A>C (p.Lys294Gln) c.1072A>C (p.Lys358Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19110799A>G | CA404898182 | SLC25A42 | c.880A>G (p.Lys294Glu) c.1072A>G (p.Lys358Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19110799A>T | CA404898183 | SLC25A42 | c.880A>T (p.Lys294Ter) c.1072A>T (p.Lys358Ter) | |
| 19 | g.19110800A>C | CA404898185 | SLC25A42 | c.881A>C (p.Lys294Thr) c.1073A>C (p.Lys358Thr) | |
| 19 | g.19110800A>G | CA404898186 | SLC25A42 | c.881A>G (p.Lys294Arg) c.1073A>G (p.Lys358Arg) | |
| 19 | g.19110800A>T | CA404898187 | SLC25A42 | c.881A>T (p.Lys294Met) c.1073A>T (p.Lys358Met) | |
| 19 | g.19110801G>A | CA506060284 | SLC25A42 | c.882G>A (p.Lys294=) c.1074G>A (p.Lys358=) | |
| 19 | g.19110801G>C | CA404898189 | SLC25A42 | c.882G>C (p.Lys294Asn) c.1074G>C (p.Lys358Asn) | |
| 19 | g.19110801G>T | CA404898191 | SLC25A42 | c.882G>T (p.Lys294Asn) c.1074G>T (p.Lys358Asn) | |
| 19 | g.19110802G>A | CA404898193 | SLC25A42 | c.883G>A (p.Gly295Ser) c.1075G>A (p.Gly359Ser) | gnomAD v4 |
| 19 | g.19110802G>C | CA404898195 | SLC25A42 | c.883G>C (p.Gly295Arg) c.1075G>C (p.Gly359Arg) | |
| 19 | g.19110802G>T | CA404898196 | SLC25A42 | c.883G>T (p.Gly295Cys) c.1075G>T (p.Gly359Cys) | |
| 19 | g.19110803G>A | CA404898199 | SLC25A42 | c.884G>A (p.Gly295Asp) c.1076G>A (p.Gly359Asp) | gnomAD v4 |
| 19 | g.19110803G>C | CA404898201 | SLC25A42 | c.884G>C (p.Gly295Ala) c.1076G>C (p.Gly359Ala) | |
| 19 | g.19110803G= | CA2326684836 | SLC25A42 | c.884G= (p.Gly295=) c.1076G= (p.Gly359=) | |
| 19 | g.19110803G>T | CA404898198 | SLC25A42 | c.884G>T (p.Gly295Val) c.1076G>T (p.Gly359Val) | dbSNP gnomAD v4 |
| 19 | g.19110804T>A | CA506060285 | SLC25A42 | c.885T>A (p.Gly295=) c.1077T>A (p.Gly359=) | |
| 19 | g.19110804T>C | CA506060286 | SLC25A42 | c.885T>C (p.Gly295=) c.1077T>C (p.Gly359=) | |
| 19 | g.19110804T>G | CA506060287 | SLC25A42 | c.885T>G (p.Gly295=) c.1077T>G (p.Gly359=) | |
| 19 | g.19110805C>A | CA404898202 | SLC25A42 | c.886C>A (p.Pro296Thr) c.1078C>A (p.Pro360Thr) | |
| 19 | g.19110805C>G | CA404898204 | SLC25A42 | c.886C>G (p.Pro296Ala) c.1078C>G (p.Pro360Ala) | |
| 19 | g.19110805C>T | CA404898205 | SLC25A42 | c.886C>T (p.Pro296Ser) c.1078C>T (p.Pro360Ser) | |
| 19 | g.19110806C>A | CA404898208 | SLC25A42 | c.887C>A (p.Pro296His) c.1079C>A (p.Pro360His) | |
| 19 | g.19110806C>G | CA404898209 | SLC25A42 | c.887C>G (p.Pro296Arg) c.1079C>G (p.Pro360Arg) | |
| 19 | g.19110806C>T | CA404898210 | SLC25A42 | c.887C>T (p.Pro296Leu) c.1079C>T (p.Pro360Leu) | |
| 19 | g.19110807C>A | CA506060288 | SLC25A42 | c.888C>A (p.Pro296=) c.1080C>A (p.Pro360=) | |
| 19 | g.19110807C= | CA2326684837 | SLC25A42 | c.888C= (p.Pro296=) c.1080C= (p.Pro360=) | |
| 19 | g.19110807C>G | CA506060290 | SLC25A42 | c.888C>G (p.Pro296=) c.1080C>G (p.Pro360=) | |
| 19 | g.19110807C>T | CA506060289 | SLC25A42 | c.888C>T (p.Pro296=) c.1080C>T (p.Pro360=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19110808A>C | CA404898216 | SLC25A42 | c.889A>C (p.Ile297Leu) c.1081A>C (p.Ile361Leu) | |
| 19 | g.19110808A>G | CA404898215 | SLC25A42 | c.889A>G (p.Ile297Val) c.1081A>G (p.Ile361Val) | |
| 19 | g.19110808A>T | CA404898213 | SLC25A42 | c.889A>T (p.Ile297Phe) c.1081A>T (p.Ile361Phe) | |
| 19 | g.19110809T>A | CA404898219 | SLC25A42 | c.890T>A (p.Ile297Asn) c.1082T>A (p.Ile361Asn) | |
| 19 | g.19110809T>C | CA404898220 | SLC25A42 | c.890T>C (p.Ile297Thr) c.1082T>C (p.Ile361Thr) | |
| 19 | g.19110809T>G | CA404898222 | SLC25A42 | c.890T>G (p.Ile297Ser) c.1082T>G (p.Ile361Ser) | |
| 19 | g.19110810C>A | CA506060291 | SLC25A42 | c.891C>A (p.Ile297=) c.1083C>A (p.Ile361=) | |
| 19 | g.19110810C>G | CA404898223 | SLC25A42 | c.891C>G (p.Ile297Met) c.1083C>G (p.Ile361Met) | |
| 19 | g.19110810C>T | CA506060292 | SLC25A42 | c.891C>T (p.Ile297=) c.1083C>T (p.Ile361=) | |
| 19 | g.19110811G>A | CA404898225 | SLC25A42 | c.892G>A (p.Ala298Thr) c.1084G>A (p.Ala362Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19110811G>C | CA404898227 | SLC25A42 | c.892G>C (p.Ala298Pro) c.1084G>C (p.Ala362Pro) | |
| 19 | g.19110811G= | CA2326684838 | SLC25A42 | c.892G= (p.Ala298=) c.1084G= (p.Ala362=) | |
| 19 | g.19110811G>T | CA404898228 | SLC25A42 | c.892G>T (p.Ala298Ser) c.1084G>T (p.Ala362Ser) | |
| 19 | g.19110812C>A | CA404898230 | SLC25A42 | c.893C>A (p.Ala298Asp) c.1085C>A (p.Ala362Asp) | |
| 19 | g.19110812C>G | CA404898234 | SLC25A42 | c.893C>G (p.Ala298Gly) c.1085C>G (p.Ala362Gly) | |
| 19 | g.19110812C>T | CA404898232 | SLC25A42 | c.893C>T (p.Ala298Val) c.1085C>T (p.Ala362Val) | |
| 19 | g.19110813C>A | CA506060293 | SLC25A42 | c.894C>A (p.Ala298=) c.1086C>A (p.Ala362=) | |
| 19 | g.19110813C= | CA2326684839 | SLC25A42 | c.894C= (p.Ala298=) c.1086C= (p.Ala362=) | |
| 19 | g.19110813C>G | CA506060294 | SLC25A42 | c.894C>G (p.Ala298=) c.1086C>G (p.Ala362=) | gnomAD v4 |
| 19 | g.19110813C>T | CA506060295 | SLC25A42 | c.894C>T (p.Ala298=) c.1086C>T (p.Ala362=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19110814G>A | CA404898236 | SLC25A42 | c.895G>A (p.Val299Met) c.1087G>A (p.Val363Met) | gnomAD v4 |
| 19 | g.19110814G>C | CA404898238 | SLC25A42 | c.895G>C (p.Val299Leu) c.1087G>C (p.Val363Leu) | |
| 19 | g.19110814G>T | CA404898239 | SLC25A42 | c.895G>T (p.Val299Leu) c.1087G>T (p.Val363Leu) | ClinVar gnomAD v4 |
| 19 | g.19110815T>A | CA404898242 | SLC25A42 | c.896T>A (p.Val299Glu) c.1088T>A (p.Val363Glu) | |
| 19 | g.19110815T>C | CA404898243 | SLC25A42 | c.896T>C (p.Val299Ala) c.1088T>C (p.Val363Ala) | gnomAD v4 |
| 19 | g.19110815T>G | CA404898245 | SLC25A42 | c.896T>G (p.Val299Gly) c.1088T>G (p.Val363Gly) | |
| 19 | g.19110816G>A | CA506060296 | SLC25A42 | c.897G>A (p.Val299=) c.1089G>A (p.Val363=) | |
| 19 | g.19110816G>C | CA506060297 | SLC25A42 | c.897G>C (p.Val299=) c.1089G>C (p.Val363=) | |
| 19 | g.19110816G>T | CA506060298 | SLC25A42 | c.897G>T (p.Val299=) c.1089G>T (p.Val363=) | |
| 19 | g.19110817G>A | CA404898246 | SLC25A42 | c.898G>A (p.Gly300Ser) c.1090G>A (p.Gly364Ser) | |
| 19 | g.19110817G>C | CA404898247 | SLC25A42 | c.898G>C (p.Gly300Arg) c.1090G>C (p.Gly364Arg) | |
| 19 | g.19110817G>T | CA404898249 | SLC25A42 | c.898G>T (p.Gly300Cys) c.1090G>T (p.Gly364Cys) | |
| 19 | g.19110818G>A | CA404898251 | SLC25A42 | c.899G>A (p.Gly300Asp) c.1091G>A (p.Gly364Asp) | gnomAD v4 |
| 19 | g.19110818G>C | CA404898252 | SLC25A42 | c.899G>C (p.Gly300Ala) c.1091G>C (p.Gly364Ala) | |
| 19 | g.19110818G>T | CA404898254 | SLC25A42 | c.899G>T (p.Gly300Val) c.1091G>T (p.Gly364Val) | |
| 19 | g.19110819C>A | CA506060299 | SLC25A42 | c.900C>A (p.Gly300=) c.1092C>A (p.Gly364=) | |
| 19 | g.19110819C>G | CA506060300 | SLC25A42 | c.900C>G (p.Gly300=) c.1092C>G (p.Gly364=) | |
| 19 | g.19110819C>T | CA506060301 | SLC25A42 | c.900C>T (p.Gly300=) c.1092C>T (p.Gly364=) | |
| 19 | g.19110820A= | CA2326684840 | SLC25A42 | c.901A= (p.Ile301=) c.1093A= (p.Ile365=) | |
| 19 | g.19110820A>C | CA404898256 | SLC25A42 | c.901A>C (p.Ile301Leu) c.1093A>C (p.Ile365Leu) | |
| 19 | g.19110820A>G | CA404898259 | SLC25A42 | c.901A>G (p.Ile301Val) c.1093A>G (p.Ile365Val) | |
| 19 | g.19110820A>T | CA404898257 | SLC25A42 | c.901A>T (p.Ile301Phe) c.1093A>T (p.Ile365Phe) | dbSNP |
| 19 | g.19110821T>A | CA404898261 | SLC25A42 | c.902T>A (p.Ile301Asn) c.1094T>A (p.Ile365Asn) | |
| 19 | g.19110821T>C | CA404898263 | SLC25A42 | c.902T>C (p.Ile301Thr) c.1094T>C (p.Ile365Thr) | |
| 19 | g.19110821T>G | CA404898264 | SLC25A42 | c.902T>G (p.Ile301Ser) c.1094T>G (p.Ile365Ser) | |
| 19 | g.19110822C>A | CA506060302 | SLC25A42 | c.903C>A (p.Ile301=) c.1095C>A (p.Ile365=) | |
| 19 | g.19110822C>G | CA404898265 | SLC25A42 | c.903C>G (p.Ile301Met) c.1095C>G (p.Ile365Met) | |
| 19 | g.19110822C>T | CA506060303 | SLC25A42 | c.903C>T (p.Ile301=) c.1095C>T (p.Ile365=) | |
| 19 | g.19110823A= | CA2326684841 | SLC25A42 | c.904A= (p.Ser302=) c.1096A= (p.Ser366=) | |
| 19 | g.19110823A>C | CA404898267 | SLC25A42 | c.904A>C (p.Ser302Arg) c.1096A>C (p.Ser366Arg) | |
| 19 | g.19110823A>G | CA404898269 | SLC25A42 | c.904A>G (p.Ser302Gly) c.1096A>G (p.Ser366Gly) | |
| 19 | g.19110823A>T | CA404898271 | SLC25A42 | c.904A>T (p.Ser302Cys) c.1096A>T (p.Ser366Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19110824G>A | CA404898272 | SLC25A42 | c.905G>A (p.Ser302Asn) c.1097G>A (p.Ser366Asn) | |
| 19 | g.19110824G>C | CA404898273 | SLC25A42 | c.905G>C (p.Ser302Thr) c.1097G>C (p.Ser366Thr) | |
| 19 | g.19110824G>T | CA404898274 | SLC25A42 | c.905G>T (p.Ser302Ile) c.1097G>T (p.Ser366Ile) | |
| 19 | g.19110825C>A | CA404898275 | SLC25A42 | c.906C>A (p.Ser302Arg) c.1098C>A (p.Ser366Arg) | |
| 19 | g.19110825C= | CA2326684842 | SLC25A42 | c.906C= (p.Ser302=) c.1098C= (p.Ser366=) | |
| 19 | g.19110825C>G | CA404898277 | SLC25A42 | c.906C>G (p.Ser302Arg) c.1098C>G (p.Ser366Arg) | |
| 19 | g.19110825C>T | CA9321587 | SLC25A42 | c.906C>T (p.Ser302=) c.1098C>T (p.Ser366=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19110826T>A | CA404898283 | SLC25A42 | c.907T>A (p.Phe303Ile) c.1099T>A (p.Phe367Ile) | |
| 19 | g.19110826T>C | CA404898280 | SLC25A42 | c.907T>C (p.Phe303Leu) c.1099T>C (p.Phe367Leu) | |
| 19 | g.19110826T>G | CA404898281 | SLC25A42 | c.907T>G (p.Phe303Val) c.1099T>G (p.Phe367Val) | |
| 19 | g.19110827T>A | CA404898285 | SLC25A42 | c.908T>A (p.Phe303Tyr) c.1100T>A (p.Phe367Tyr) | |
| 19 | g.19110827T>C | CA404898287 | SLC25A42 | c.908T>C (p.Phe303Ser) c.1100T>C (p.Phe367Ser) | |
| 19 | g.19110827T>G | CA404898288 | SLC25A42 | c.908T>G (p.Phe303Cys) c.1100T>G (p.Phe367Cys) | |
| 19 | g.19110828C>A | CA404898289 | SLC25A42 | c.909C>A (p.Phe303Leu) c.1101C>A (p.Phe367Leu) | |
| 19 | g.19110828C= | CA2326684843 | SLC25A42 | c.909C= (p.Phe303=) c.1101C= (p.Phe367=) | |
| 19 | g.19110828C>G | CA404898290 | SLC25A42 | c.909C>G (p.Phe303Leu) c.1101C>G (p.Phe367Leu) | |
| 19 | g.19110828C>T | CA9321588 | SLC25A42 | c.909C>T (p.Phe303=) c.1101C>T (p.Phe367=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.19110829A>C | CA404898293 | SLC25A42 | c.910A>C (p.Thr304Pro) c.1102A>C (p.Thr368Pro) | |
| 19 | g.19110829A>G | CA404898295 | SLC25A42 | c.910A>G (p.Thr304Ala) c.1102A>G (p.Thr368Ala) | gnomAD v4 |
| 19 | g.19110829A>T | CA404898296 | SLC25A42 | c.910A>T (p.Thr304Ser) c.1102A>T (p.Thr368Ser) | |
| 19 | g.19110830C>A | CA404898298 | SLC25A42 | c.911C>A (p.Thr304Asn) c.1103C>A (p.Thr368Asn) | |
| 19 | g.19110830C= | CA2326684844 | SLC25A42 | c.911C= (p.Thr304=) c.1103C= (p.Thr368=) | |
| 19 | g.19110830C>G | CA404898300 | SLC25A42 | c.911C>G (p.Thr304Ser) c.1103C>G (p.Thr368Ser) | |
| 19 | g.19110830C>T | CA9321589 | SLC25A42 | c.911C>T (p.Thr304Ile) c.1103C>T (p.Thr368Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19110831C>A | CA506060304 | SLC25A42 | c.912C>A (p.Thr304=) c.1104C>A (p.Thr368=) | |
| 19 | g.19110831C>G | CA506060305 | SLC25A42 | c.912C>G (p.Thr304=) c.1104C>G (p.Thr368=) | |
| 19 | g.19110831C>T | CA506060306 | SLC25A42 | c.912C>T (p.Thr304=) c.1104C>T (p.Thr368=) | |
| 19 | g.19110832A>C | CA404898302 | SLC25A42 | c.913A>C (p.Thr305Pro) c.1105A>C (p.Thr369Pro) | |
| 19 | g.19110832A>G | CA404898305 | SLC25A42 | c.913A>G (p.Thr305Ala) c.1105A>G (p.Thr369Ala) | dbSNP gnomAD v4 |
| 19 | g.19110832A>T | CA404898303 | SLC25A42 | c.913A>T (p.Thr305Ser) c.1105A>T (p.Thr369Ser) | |
| 19 | g.19110833C>A | CA404898307 | SLC25A42 | c.914C>A (p.Thr305Asn) c.1106C>A (p.Thr369Asn) | |
| 19 | g.19110833C>G | CA404898309 | SLC25A42 | c.914C>G (p.Thr305Ser) c.1106C>G (p.Thr369Ser) | |
| 19 | g.19110833C>T | CA404898308 | SLC25A42 | c.914C>T (p.Thr305Ile) c.1106C>T (p.Thr369Ile) | gnomAD v4 |
| 19 | g.19110834C>A | CA506060309 | SLC25A42 | c.915C>A (p.Thr305=) c.1107C>A (p.Thr369=) | |
| 19 | g.19110834C= | CA2326684845 | SLC25A42 | c.915C= (p.Thr305=) c.1107C= (p.Thr369=) | |
| 19 | g.19110834C>G | CA506060308 | SLC25A42 | c.915C>G (p.Thr305=) c.1107C>G (p.Thr369=) | |
| 19 | g.19110834C>T | CA506060307 | SLC25A42 | c.915C>T (p.Thr305=) c.1107C>T (p.Thr369=) | dbSNP gnomAD v4 |
| 19 | g.19110835T>A | CA404898310 | SLC25A42 | c.916T>A (p.Phe306Ile) c.1108T>A (p.Phe370Ile) | |
| 19 | g.19110835T>C | CA404898311 | SLC25A42 | c.916T>C (p.Phe306Leu) c.1108T>C (p.Phe370Leu) | |
| 19 | g.19110835T>G | CA404898312 | SLC25A42 | c.916T>G (p.Phe306Val) c.1108T>G (p.Phe370Val) | |
| 19 | g.19110836T>A | CA404898315 | SLC25A42 | c.917T>A (p.Phe306Tyr) c.1109T>A (p.Phe370Tyr) | |
| 19 | g.19110836T>C | CA404898317 | SLC25A42 | c.917T>C (p.Phe306Ser) c.1109T>C (p.Phe370Ser) | |
| 19 | g.19110836T>G | CA404898318 | SLC25A42 | c.917T>G (p.Phe306Cys) c.1109T>G (p.Phe370Cys) | |
| 19 | g.19110837C>A | CA404898320 | SLC25A42 | c.918C>A (p.Phe306Leu) c.1110C>A (p.Phe370Leu) | |
| 19 | g.19110837C>G | CA404898322 | SLC25A42 | c.918C>G (p.Phe306Leu) c.1110C>G (p.Phe370Leu) | |
| 19 | g.19110837C>T | CA506060310 | SLC25A42 | c.918C>T (p.Phe306=) c.1110C>T (p.Phe370=) | dbSNP gnomAD v4 |
| 19 | g.19110838G>A | CA404898324 | SLC25A42 | c.919G>A (p.Asp307Asn) c.1111G>A (p.Asp371Asn) | COSMIC |
| 19 | g.19110838G>C | CA404898325 | SLC25A42 | c.919G>C (p.Asp307His) c.1111G>C (p.Asp371His) | |
| 19 | g.19110838G>T | CA404898326 | SLC25A42 | c.919G>T (p.Asp307Tyr) c.1111G>T (p.Asp371Tyr) | |
| 19 | g.19110839A>C | CA404898331 | SLC25A42 | c.920A>C (p.Asp307Ala) c.1112A>C (p.Asp371Ala) | |
| 19 | g.19110839A>G | CA404898329 | SLC25A42 | c.920A>G (p.Asp307Gly) c.1112A>G (p.Asp371Gly) | |
| 19 | g.19110839A>T | CA404898327 | SLC25A42 | c.920A>T (p.Asp307Val) c.1112A>T (p.Asp371Val) | |
| 19 | g.19110840C>A | CA404898333 | SLC25A42 | c.921C>A (p.Asp307Glu) c.1113C>A (p.Asp371Glu) | |
| 19 | g.19110840C= | CA2326684846 | SLC25A42 | c.921C= (p.Asp307=) c.1113C= (p.Asp371=) | |
| 19 | g.19110840C>G | CA404898334 | SLC25A42 | c.921C>G (p.Asp307Glu) c.1113C>G (p.Asp371Glu) | |
| 19 | g.19110840C>T | CA506060311 | SLC25A42 | c.921C>T (p.Asp307=) c.1113C>T (p.Asp371=) | dbSNP |
| 19 | g.19110841C>A | CA404898336 | SLC25A42 | c.922C>A (p.Leu308Ile) c.1114C>A (p.Leu372Ile) | |
| 19 | g.19110841C>G | CA404898338 | SLC25A42 | c.922C>G (p.Leu308Val) c.1114C>G (p.Leu372Val) | gnomAD v4 |
| 19 | g.19110841C>T | CA404898340 | SLC25A42 | c.922C>T (p.Leu308Phe) c.1114C>T (p.Leu372Phe) | |
| 19 | g.19110842T>A | CA404898341 | SLC25A42 | c.923T>A (p.Leu308His) c.1115T>A (p.Leu372His) | |
| 19 | g.19110842T>C | CA404898342 | SLC25A42 | c.923T>C (p.Leu308Pro) c.1115T>C (p.Leu372Pro) | |
| 19 | g.19110842T>G | CA404898343 | SLC25A42 | c.923T>G (p.Leu308Arg) c.1115T>G (p.Leu372Arg) | |
| 19 | g.19110843C>A | CA506060312 | SLC25A42 | c.924C>A (p.Leu308=) c.1116C>A (p.Leu372=) | |
| 19 | g.19110843C>G | CA506060313 | SLC25A42 | c.924C>G (p.Leu308=) c.1116C>G (p.Leu372=) | |
| 19 | g.19110843C>T | CA506060314 | SLC25A42 | c.924C>T (p.Leu308=) c.1116C>T (p.Leu372=) | |
| 19 | g.19110844A= | CA2326684847 | SLC25A42 | c.925A= (p.Met309=) c.1117A= (p.Met373=) | |
| 19 | g.19110844A>C | CA404898346 | SLC25A42 | c.925A>C (p.Met309Leu) c.1117A>C (p.Met373Leu) | gnomAD v4 |
| 19 | g.19110844A>G | CA404898348 | SLC25A42 | c.925A>G (p.Met309Val) c.1117A>G (p.Met373Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19110844A>T | CA404898349 | SLC25A42 | c.925A>T (p.Met309Leu) c.1117A>T (p.Met373Leu) | |
| 19 | g.19110845T>A | CA404898355 | SLC25A42 | c.926T>A (p.Met309Lys) c.1118T>A (p.Met373Lys) | |
| 19 | g.19110845T>C | CA404898353 | SLC25A42 | c.926T>C (p.Met309Thr) c.1118T>C (p.Met373Thr) | |
| 19 | g.19110845T>G | CA404898351 | SLC25A42 | c.926T>G (p.Met309Arg) c.1118T>G (p.Met373Arg) | |
| 19 | g.19110846G>A | CA404898356 | SLC25A42 | c.927G>A (p.Met309Ile) c.1119G>A (p.Met373Ile) | |
| 19 | g.19110846G>C | CA404898358 | SLC25A42 | c.927G>C (p.Met309Ile) c.1119G>C (p.Met373Ile) | |
| 19 | g.19110846G>T | CA404898360 | SLC25A42 | c.927G>T (p.Met309Ile) c.1119G>T (p.Met373Ile) | |
| 19 | g.19110847C>A | CA404898362 | SLC25A42 | c.928C>A (p.Gln310Lys) c.1120C>A (p.Gln374Lys) | |
| 19 | g.19110847C= | CA2326684848 | SLC25A42 | c.928C= (p.Gln310=) c.1120C= (p.Gln374=) | |
| 19 | g.19110847C>G | CA404898363 | SLC25A42 | c.928C>G (p.Gln310Glu) c.1120C>G (p.Gln374Glu) | |
| 19 | g.19110847C>T | CA404898365 | SLC25A42 | c.928C>T (p.Gln310Ter) c.1120C>T (p.Gln374Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19110848A>C | CA404898371 | SLC25A42 | c.929A>C (p.Gln310Pro) c.1121A>C (p.Gln374Pro) | |
| 19 | g.19110848A>G | CA404898367 | SLC25A42 | c.929A>G (p.Gln310Arg) c.1121A>G (p.Gln374Arg) | |
| 19 | g.19110848A>T | CA404898369 | SLC25A42 | c.929A>T (p.Gln310Leu) c.1121A>T (p.Gln374Leu) | |
| 19 | g.19110849G>A | CA506060315 | SLC25A42 | c.930G>A (p.Gln310=) c.1122G>A (p.Gln374=) | gnomAD v4 |
| 19 | g.19110849G>C | CA404898373 | SLC25A42 | c.930G>C (p.Gln310His) c.1122G>C (p.Gln374His) | |
| 19 | g.19110849G>T | CA404898375 | SLC25A42 | c.930G>T (p.Gln310His) c.1122G>T (p.Gln374His) | |
| 19 | g.19110850A>C | CA404898378 | SLC25A42 | c.931A>C (p.Ile311Leu) c.1123A>C (p.Ile375Leu) | gnomAD v4 |
| 19 | g.19110850A>G | CA404898379 | SLC25A42 | c.931A>G (p.Ile311Val) c.1123A>G (p.Ile375Val) | gnomAD v4 |
| 19 | g.19110850A>T | CA404898380 | SLC25A42 | c.931A>T (p.Ile311Phe) c.1123A>T (p.Ile375Phe) | |
| 19 | g.19110851T>A | CA9321590 | SLC25A42 | c.932T>A (p.Ile311Asn) c.1124T>A (p.Ile375Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19110851T>C | CA404898385 | SLC25A42 | c.932T>C (p.Ile311Thr) c.1124T>C (p.Ile375Thr) | |
| 19 | g.19110851T>G | CA404898384 | SLC25A42 | c.932T>G (p.Ile311Ser) c.1124T>G (p.Ile375Ser) | |
| 19 | g.19110851T= | CA2326684849 | SLC25A42 | c.932T= (p.Ile311=) c.1124T= (p.Ile375=) | |
| 19 | g.19110851_19110863delinsTCCTGCTGCGGCA | CA2326684850 | SLC25A42 | c.932_944delinsTCCTGCTGCGGCA (p.Ile311=) c.1124_1136delinsTCCTGCTGCGGCA (p.Ile375=) | |
| 19 | g.19110852C>A | CA506060316 | SLC25A42 | c.933C>A (p.Ile311=) c.1125C>A (p.Ile375=) | gnomAD v4 |
| 19 | g.19110852C= | CA2326684851 | SLC25A42 | c.933C= (p.Ile311=) c.1125C= (p.Ile375=) | |
| 19 | g.19110852C>G | CA9321591 | SLC25A42 | c.933C>G (p.Ile311Met) c.1125C>G (p.Ile375Met) | dbSNP ExAC gnomAD v2 |
| 19 | g.19110852C>T | CA506060317 | SLC25A42 | c.933C>T (p.Ile311=) c.1125C>T (p.Ile375=) | |
| 19 | g.19110857_19110868del | CA994277148 | SLC25A42 | c.938_949del (p.Leu313_Leu316del) c.1130_1141del (p.Leu377_Leu380del) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19110853C>A | CA306290831 | SLC25A42 | c.934C>A (p.Leu312Met) c.1126C>A (p.Leu376Met) | dbSNP gnomAD v4 |
| 19 | g.19110853C= | CA2326684852 | SLC25A42 | c.934C= (p.Leu312=) c.1126C= (p.Leu376=) | |
| 19 | g.19110853C>G | CA404898390 | SLC25A42 | c.934C>G (p.Leu312Val) c.1126C>G (p.Leu376Val) | gnomAD v4 |
| 19 | g.19110853C>T | CA506060318 | SLC25A42 | c.934C>T (p.Leu312=) c.1126C>T (p.Leu376=) | |
| 19 | g.19110854T>A | CA404898392 | SLC25A42 | c.935T>A (p.Leu312Gln) c.1127T>A (p.Leu376Gln) | |
| 19 | g.19110854T>C | CA404898394 | SLC25A42 | c.935T>C (p.Leu312Pro) c.1127T>C (p.Leu376Pro) | |
| 19 | g.19110854T>G | CA404898395 | SLC25A42 | c.935T>G (p.Leu312Arg) c.1127T>G (p.Leu376Arg) | |
| 19 | g.19110855G>A | CA306290834 | SLC25A42 | c.936G>A (p.Leu312=) c.1128G>A (p.Leu376=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19110855G>C | CA506060320 | SLC25A42 | c.936G>C (p.Leu312=) c.1128G>C (p.Leu376=) | gnomAD v4 |
| 19 | g.19110855G= | CA2326684853 | SLC25A42 | c.936G= (p.Leu312=) c.1128G= (p.Leu376=) | |
| 19 | g.19110855G>T | CA506060319 | SLC25A42 | c.936G>T (p.Leu312=) c.1128G>T (p.Leu376=) | |
| 19 | g.19110856C>A | CA404898397 | SLC25A42 | c.937C>A (p.Leu313Met) c.1129C>A (p.Leu377Met) | |
| 19 | g.19110856C>G | CA404898398 | SLC25A42 | c.937C>G (p.Leu313Val) c.1129C>G (p.Leu377Val) | |
| 19 | g.19110856C>T | CA506060321 | SLC25A42 | c.937C>T (p.Leu313=) c.1129C>T (p.Leu377=) | |
| 19 | g.19110857T>A | CA404898400 | SLC25A42 | c.938T>A (p.Leu313Gln) c.1130T>A (p.Leu377Gln) | |
| 19 | g.19110857T>C | CA404898401 | SLC25A42 | c.938T>C (p.Leu313Pro) c.1130T>C (p.Leu377Pro) | |
| 19 | g.19110857T>G | CA404898403 | SLC25A42 | c.938T>G (p.Leu313Arg) c.1130T>G (p.Leu377Arg) | |
| 19 | g.19110858G>A | CA506060322 | SLC25A42 | c.939G>A (p.Leu313=) c.1131G>A (p.Leu377=) | |
| 19 | g.19110858G>C | CA506060323 | SLC25A42 | c.939G>C (p.Leu313=) c.1131G>C (p.Leu377=) | |
| 19 | g.19110858G>T | CA506060324 | SLC25A42 | c.939G>T (p.Leu313=) c.1131G>T (p.Leu377=) | |
| 19 | g.19110859C>A | CA506060325 | SLC25A42 | c.940C>A (p.Arg314=) c.1132C>A (p.Arg378=) | |
| 19 | g.19110859C= | CA2326684854 | SLC25A42 | c.940C= (p.Arg314=) c.1132C= (p.Arg378=) | |
| 19 | g.19110859C>G | CA404898405 | SLC25A42 | c.940C>G (p.Arg314Gly) c.1132C>G (p.Arg378Gly) | dbSNP |
| 19 | g.19110859C>T | CA404898407 | SLC25A42 | c.940C>T (p.Arg314Trp) c.1132C>T (p.Arg378Trp) | |
| 19 | g.19110860G>A | CA404898409 | SLC25A42 | c.941G>A (p.Arg314Gln) c.1133G>A (p.Arg378Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19110860G>C | CA9321592 | SLC25A42 | c.941G>C (p.Arg314Pro) c.1133G>C (p.Arg378Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19110860G= | CA2326684855 | SLC25A42 | c.941G= (p.Arg314=) c.1133G= (p.Arg378=) | |
| 19 | g.19110860G>T | CA404898411 | SLC25A42 | c.941G>T (p.Arg314Leu) c.1133G>T (p.Arg378Leu) | |
| 19 | g.19110861G>A | CA506060326 | SLC25A42 | c.942G>A (p.Arg314=) c.1134G>A (p.Arg378=) | dbSNP gnomAD v4 |
| 19 | g.19110861G>C | CA506060328 | SLC25A42 | c.942G>C (p.Arg314=) c.1134G>C (p.Arg378=) | |
| 19 | g.19110861G= | CA2326684856 | SLC25A42 | c.942G= (p.Arg314=) c.1134G= (p.Arg378=) | |
| 19 | g.19110861G>T | CA506060327 | SLC25A42 | c.942G>T (p.Arg314=) c.1134G>T (p.Arg378=) | |
| 19 | g.19110862C>A | CA404898414 | SLC25A42 | c.943C>A (p.His315Asn) c.1135C>A (p.His379Asn) | |
| 19 | g.19110862C>G | CA404898417 | SLC25A42 | c.943C>G (p.His315Asp) c.1135C>G (p.His379Asp) | |
| 19 | g.19110862C>T | CA404898415 | SLC25A42 | c.943C>T (p.His315Tyr) c.1135C>T (p.His379Tyr) | |
| 19 | g.19110863A= | CA2326684857 | SLC25A42 | c.944A= (p.His315=) c.1136A= (p.His379=) | |
| 19 | g.19110863A>C | CA404898419 | SLC25A42 | c.944A>C (p.His315Pro) c.1136A>C (p.His379Pro) | |
| 19 | g.19110863A>G | CA404898423 | SLC25A42 | c.944A>G (p.His315Arg) c.1136A>G (p.His379Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19110863A>T | CA404898421 | SLC25A42 | c.944A>T (p.His315Leu) c.1136A>T (p.His379Leu) | |
| 19 | g.19110864C>A | CA404898424 | SLC25A42 | c.945C>A (p.His315Gln) c.1137C>A (p.His379Gln) | |
| 19 | g.19110864C= | CA2326684858 | SLC25A42 | c.945C= (p.His315=) c.1137C= (p.His379=) | |
| 19 | g.19110864C>G | CA9321593 | SLC25A42 | c.945C>G (p.His315Gln) c.1137C>G (p.His379Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19110864C>T | CA9321594 | SLC25A42 | c.945C>T (p.His315=) c.1137C>T (p.His379=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.19110865C>A | CA404898428 | SLC25A42 | c.946C>A (p.Leu316Met) c.1138C>A (p.Leu380Met) | |
| 19 | g.19110865C>G | CA404898429 | SLC25A42 | c.946C>G (p.Leu316Val) c.1138C>G (p.Leu380Val) | |
| 19 | g.19110865C>T | CA506060329 | SLC25A42 | c.946C>T (p.Leu316=) c.1138C>T (p.Leu380=) | |
| 19 | g.19110866T>A | CA404898431 | SLC25A42 | c.947T>A (p.Leu316Gln) c.1139T>A (p.Leu380Gln) | |
| 19 | g.19110866T>C | CA404898433 | SLC25A42 | c.947T>C (p.Leu316Pro) c.1139T>C (p.Leu380Pro) | gnomAD v4 |
| 19 | g.19110866T>G | CA404898435 | SLC25A42 | c.947T>G (p.Leu316Arg) c.1139T>G (p.Leu380Arg) | |
| 19 | g.19110867G>A | CA506060330 | SLC25A42 | c.948G>A (p.Leu316=) c.1140G>A (p.Leu380=) | |
| 19 | g.19110867G>C | CA506060332 | SLC25A42 | c.948G>C (p.Leu316=) c.1140G>C (p.Leu380=) | |
| 19 | g.19110867G>T | CA506060331 | SLC25A42 | c.948G>T (p.Leu316=) c.1140G>T (p.Leu380=) | |
| 19 | g.19110867_19110868delinsTT | CA2580096764 | SLC25A42 | c.948_949delinsTT (p.Leu317Ter) c.1140_1141delinsTT (p.Leu381Ter) | ClinVar |
| 19 | g.19110868C>A | CA404898437 | SLC25A42 | c.949C>A (p.Gln317Lys) c.1141C>A (p.Gln381Lys) | |
| 19 | g.19110868C>G | CA404898439 | SLC25A42 | c.949C>G (p.Gln317Glu) c.1141C>G (p.Gln381Glu) | |
| 19 | g.19110868C>T | CA404898441 | SLC25A42 | c.949C>T (p.Gln317Ter) c.1141C>T (p.Gln381Ter) | |
| 19 | g.19110869A>C | CA404898442 | SLC25A42 | c.950A>C (p.Gln317Pro) c.1142A>C (p.Gln381Pro) | |
| 19 | g.19110869A>G | CA404898444 | SLC25A42 | c.950A>G (p.Gln317Arg) c.1142A>G (p.Gln381Arg) | |
| 19 | g.19110869A>T | CA404898446 | SLC25A42 | c.950A>T (p.Gln317Leu) c.1142A>T (p.Gln381Leu) | |
| 19 | g.19110870G>A | CA506060333 | SLC25A42 | c.951G>A (p.Gln317=) c.1143G>A (p.Gln381=) | gnomAD v4 |
| 19 | g.19110870G>C | CA404898448 | SLC25A42 | c.951G>C (p.Gln317His) c.1143G>C (p.Gln381His) | |
| 19 | g.19110870G>T | CA404898449 | SLC25A42 | c.951G>T (p.Gln317His) c.1143G>T (p.Gln381His) | |
| 19 | g.19110871A>C | CA404898456 | SLC25A42 | c.952A>C (p.Ser318Arg) c.1144A>C (p.Ser382Arg) | |
| 19 | g.19110871A>G | CA404898455 | SLC25A42 | c.952A>G (p.Ser318Gly) c.1144A>G (p.Ser382Gly) | |
| 19 | g.19110871A>T | CA404898452 | SLC25A42 | c.952A>T (p.Ser318Cys) c.1144A>T (p.Ser382Cys) | |
| 19 | g.19110872G>A | CA404898458 | SLC25A42 | c.953G>A (p.Ser318Asn) c.1145G>A (p.Ser382Asn) | dbSNP gnomAD v4 |
| 19 | g.19110872G>C | CA404898459 | SLC25A42 | c.953G>C (p.Ser318Thr) c.1145G>C (p.Ser382Thr) | |
| 19 | g.19110872G= | CA2326684859 | SLC25A42 | c.953G= (p.Ser318=) c.1145G= (p.Ser382=) | |
| 19 | g.19110872G>T | CA404898461 | SLC25A42 | c.953G>T (p.Ser318Ile) c.1145G>T (p.Ser382Ile) | |
| 19 | g.19110873C>A | CA404898464 | SLC25A42 | c.954C>A (p.Ser318Arg) c.1146C>A (p.Ser382Arg) | |
| 19 | g.19110873C= | CA2326684860 | SLC25A42 | c.954C= (p.Ser318=) c.1146C= (p.Ser382=) | |
| 19 | g.19110873C>G | CA404898465 | SLC25A42 | c.954C>G (p.Ser318Arg) c.1146C>G (p.Ser382Arg) | |
| 19 | g.19110873C>T | CA506060334 | SLC25A42 | c.954C>T (p.Ser318=) c.1146C>T (p.Ser382=) | dbSNP |
| 19 | g.19110874T>A | CA404898466 | SLC25A42 | c.955T>A (p.Ter319Lys) c.1147T>A (p.Ter383Lys) | |
| 19 | g.19110874T>C | CA404898467 | SLC25A42 | c.955T>C (p.Ter319Gln) c.1147T>C (p.Ter383Gln) | |
| 19 | g.19110874T>G | CA404898469 | SLC25A42 | c.955T>G (p.Ter319Glu) c.1147T>G (p.Ter383Glu) | |
| 19 | g.19110875A>C | CA404898471 | SLC25A42 | c.956A>C (p.Ter319Ser) c.1148A>C (p.Ter383Ser) | |
| 19 | g.19110875A>G | CA404898472 | SLC25A42 | c.956A>G (p.Ter319Trp) c.1148A>G (p.Ter383Trp) | |
| 19 | g.19110875A>T | CA404898474 | SLC25A42 | c.956A>T (p.Ter319Leu) c.1148A>T (p.Ter383Leu) | |
| 19 | g.19110876G>A | CA506060335 | SLC25A42 | c.957G>A (p.Ter319=) c.1149G>A (p.Ter383=) | |
| 19 | g.19110876G>C | CA404898476 | SLC25A42 | c.957G>C (p.Ter319Tyr) c.1149G>C (p.Ter383Tyr) | |
| 19 | g.19110876G>T | CA404898482 | SLC25A42 | c.957G>T (p.Ter319Tyr) c.1149G>T (p.Ter383Tyr) | |
| 19 | g.19110877G>A | CA632627734 | SLC25A42 | c.*1G>A (n.*1G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19110877G= | CA2326684861 | SLC25A42 | c.*1G= (n.*1G=) | |
| 19 | g.19110879G>A | CA994277154 | SLC25A42 | c.*3G>A (n.*3G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19110879G>C | CA9321595 | SLC25A42 | c.*3G>C (n.*3G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.19110879G= | CA2326684862 | SLC25A42 | c.*3G= (n.*3G=) | |
| 19 | g.19110879G>T | CA632627735 | SLC25A42 | c.*3G>T (n.*3G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19110879_19110880insT | CA657069421 | SLC25A42 | c.*3_*4insT (n.*3_*4insT) | COSMIC |
| 19 | g.19110880A>G | CA2555164605 | SLC25A42 | c.*4A>G (n.*4A>G) | |
| 19 | g.19110881C>A | CA784005356 | SLC25A42 | c.*5C>A (n.*5C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19110881C= | CA2326684863 | SLC25A42 | c.*5C= (n.*5C=) | |
| 19 | g.19110884T>G | CA2576728585 | SLC25A42 | c.*8T>G (n.*8T>G) | |
| 19 | g.19110886A= | CA2326684864 | SLC25A42 | c.*10A= (n.*10A=) | |
| 19 | g.19110886A>C | CA2326684865 | SLC25A42 | c.*10A>C (n.*10A>C) | dbSNP gnomAD v4 |
| 19 | g.19110887G>A | CA306290865 | SLC25A42 | c.*11G>A (n.*11G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19110887G>C | CA2576728586 | SLC25A42 | c.*11G>C (n.*11G>C) | |
| 19 | g.19110887G= | CA2326684866 | SLC25A42 | c.*11G= (n.*11G=) | |
| 19 | g.19110887G>T | CA2583667827 | SLC25A42 | c.*11G>T (n.*11G>T) | gnomAD v4 |
| 19 | g.19110888_19110889dup | CA920074998 | SLC25A42 | c.*12_*13dup (n.*12_*13dup) | dbSNP |
| 19 | g.19110890G>A | CA9321596 | SLC25A42 | c.*14G>A (n.*14G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.19110890G= | CA2326684867 | SLC25A42 | c.*14G= (n.*14G=) | |
| 19 | g.19110890G>T | CA2583667828 | SLC25A42 | c.*14G>T (n.*14G>T) | gnomAD v4 |
| 19 | g.19110890_19110892delinsGCT | CA2326684868 | SLC25A42 | c.*14_*16delinsGCT (n.*14_*16delinsGCT) |