| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.185144828T>A | CA358896045 | SLC25A4 | c.176T>A (p.Val59Glu) | |
| 4 | g.185144828T>C | CA358896046 | SLC25A4 | c.176T>C (p.Val59Ala) | |
| 4 | g.185144828T>G | CA358896047 | SLC25A4 | c.176T>G (p.Val59Gly) | |
| 4 | g.185144829G>A | CA442615184 | SLC25A4 | c.177G>A (p.Val59=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185144829G>C | CA442615185 | SLC25A4 | c.177G>C (p.Val59=) | |
| 4 | g.185144829G= | CA1519347052 | SLC25A4 | c.177G= (p.Val59=) | |
| 4 | g.185144829G>T | CA3156437 | SLC25A4 | c.177G>T (p.Val59=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.185144830A>C | CA442615186 | SLC25A4 | c.178A>C (p.Arg60=) | |
| 4 | g.185144830A>G | CA358896048 | SLC25A4 | c.178A>G (p.Arg60Gly) | gnomAD v4 |
| 4 | g.185144830A>T | CA358896049 | SLC25A4 | c.178A>T (p.Arg60Ter) | |
| 4 | g.185144831G>A | CA358896052 | SLC25A4 | c.179G>A (p.Arg60Lys) | |
| 4 | g.185144831G>C | CA358896051 | SLC25A4 | c.179G>C (p.Arg60Thr) | |
| 4 | g.185144831G>T | CA358896050 | SLC25A4 | c.179G>T (p.Arg60Ile) | |
| 4 | g.185144832A>C | CA358896053 | SLC25A4 | c.180A>C (p.Arg60Ser) | |
| 4 | g.185144832A>G | CA442615187 | SLC25A4 | c.180A>G (p.Arg60=) | |
| 4 | g.185144832A>T | CA358896054 | SLC25A4 | c.180A>T (p.Arg60Ser) | |
| 4 | g.185144833A>C | CA358896055 | SLC25A4 | c.181A>C (p.Ile61Leu) | |
| 4 | g.185144833A>G | CA358896056 | SLC25A4 | c.181A>G (p.Ile61Val) | |
| 4 | g.185144833A>T | CA358896057 | SLC25A4 | c.181A>T (p.Ile61Phe) | |
| 4 | g.185144834T>A | CA358896058 | SLC25A4 | c.182T>A (p.Ile61Asn) | gnomAD v4 |
| 4 | g.185144834T>C | CA358896059 | SLC25A4 | c.182T>C (p.Ile61Thr) | |
| 4 | g.185144834T>G | CA358896060 | SLC25A4 | c.182T>G (p.Ile61Ser) | |
| 4 | g.185144835C>A | CA112005592 | SLC25A4 | c.183C>A (p.Ile61=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.185144835C= | CA1519347056 | SLC25A4 | c.183C= (p.Ile61=) | |
| 4 | g.185144835C>G | CA358896061 | SLC25A4 | c.183C>G (p.Ile61Met) | |
| 4 | g.185144835C>T | CA442615188 | SLC25A4 | c.183C>T (p.Ile61=) | |
| 4 | g.185144836C>A | CA358896062 | SLC25A4 | c.184C>A (p.Pro62Thr) | |
| 4 | g.185144836C>G | CA358896063 | SLC25A4 | c.184C>G (p.Pro62Ala) | |
| 4 | g.185144836C>T | CA358896064 | SLC25A4 | c.184C>T (p.Pro62Ser) | |
| 4 | g.185144837C>A | CA358896067 | SLC25A4 | c.185C>A (p.Pro62His) | |
| 4 | g.185144837C>G | CA358896066 | SLC25A4 | c.185C>G (p.Pro62Arg) | |
| 4 | g.185144837C>T | CA358896065 | SLC25A4 | c.185C>T (p.Pro62Leu) | |
| 4 | g.185144838T>A | CA442615189 | SLC25A4 | c.186T>A (p.Pro62=) | |
| 4 | g.185144838T>C | CA3156438 | SLC25A4 | c.186T>C (p.Pro62=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.185144838T>G | CA442615190 | SLC25A4 | c.186T>G (p.Pro62=) | |
| 4 | g.185144838T= | CA1519347060 | SLC25A4 | c.186T= (p.Pro62=) | |
| 4 | g.185144839A= | CA1519347065 | SLC25A4 | c.187A= (p.Lys63=) | |
| 4 | g.185144839A>C | CA358896068 | SLC25A4 | c.187A>C (p.Lys63Gln) | |
| 4 | g.185144839A>G | CA358896069 | SLC25A4 | c.187A>G (p.Lys63Glu) | ClinVar dbSNP gnomAD v4 |
| 4 | g.185144839A>T | CA358896070 | SLC25A4 | c.187A>T (p.Lys63Ter) | |
| 4 | g.185144840A>C | CA358896071 | SLC25A4 | c.188A>C (p.Lys63Thr) | |
| 4 | g.185144840A>G | CA358896072 | SLC25A4 | c.188A>G (p.Lys63Arg) | |
| 4 | g.185144840A>T | CA358896073 | SLC25A4 | c.188A>T (p.Lys63Met) | |
| 4 | g.185144841G>A | CA442615191 | SLC25A4 | c.189G>A (p.Lys63=) | ClinVar dbSNP |
| 4 | g.185144841G>C | CA358896074 | SLC25A4 | c.189G>C (p.Lys63Asn) | |
| 4 | g.185144841G>T | CA358896075 | SLC25A4 | c.189G>T (p.Lys63Asn) | |
| 4 | g.185144842G>A | CA358896076 | SLC25A4 | c.190G>A (p.Glu64Lys) | |
| 4 | g.185144842G>C | CA358896077 | SLC25A4 | c.190G>C (p.Glu64Gln) | |
| 4 | g.185144842G>T | CA358896078 | SLC25A4 | c.190G>T (p.Glu64Ter) | |
| 4 | g.185144843A>C | CA358896081 | SLC25A4 | c.191A>C (p.Glu64Ala) | |
| 4 | g.185144843A>G | CA358896080 | SLC25A4 | c.191A>G (p.Glu64Gly) | |
| 4 | g.185144843A>T | CA358896079 | SLC25A4 | c.191A>T (p.Glu64Val) | |
| 4 | g.185144844G>A | CA442615192 | SLC25A4 | c.192G>A (p.Glu64=) | |
| 4 | g.185144844G>C | CA358896082 | SLC25A4 | c.192G>C (p.Glu64Asp) | |
| 4 | g.185144844G>T | CA358896083 | SLC25A4 | c.192G>T (p.Glu64Asp) | |
| 4 | g.185144845C>A | CA358896084 | SLC25A4 | c.193C>A (p.Gln65Lys) | |
| 4 | g.185144845C= | CA1519347067 | SLC25A4 | c.193C= (p.Gln65=) | |
| 4 | g.185144845C>G | CA358896085 | SLC25A4 | c.193C>G (p.Gln65Glu) | |
| 4 | g.185144845C>T | CA358896086 | SLC25A4 | c.193C>T (p.Gln65Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.185144846A>C | CA358896087 | SLC25A4 | c.194A>C (p.Gln65Pro) | |
| 4 | g.185144846A>G | CA358896088 | SLC25A4 | c.194A>G (p.Gln65Arg) | |
| 4 | g.185144846A>T | CA358896089 | SLC25A4 | c.194A>T (p.Gln65Leu) | |
| 4 | g.185144847G>A | CA442615193 | SLC25A4 | c.195G>A (p.Gln65=) | gnomAD v4 |
| 4 | g.185144847G>C | CA358896091 | SLC25A4 | c.195G>C (p.Gln65His) | |
| 4 | g.185144847G>T | CA358896090 | SLC25A4 | c.195G>T (p.Gln65His) | |
| 4 | g.185144848G>A | CA358896092 | SLC25A4 | c.196G>A (p.Gly66Ser) | gnomAD v4 |
| 4 | g.185144848G>C | CA358896093 | SLC25A4 | c.196G>C (p.Gly66Arg) | |
| 4 | g.185144848G>T | CA358896094 | SLC25A4 | c.196G>T (p.Gly66Cys) | |
| 4 | g.185144849G>A | CA358896095 | SLC25A4 | c.197G>A (p.Gly66Asp) | ClinVar dbSNP |
| 4 | g.185144849G>C | CA358896096 | SLC25A4 | c.197G>C (p.Gly66Ala) | |
| 4 | g.185144849G>T | CA358896097 | SLC25A4 | c.197G>T (p.Gly66Val) | |
| 4 | g.185144850C>A | CA442615194 | SLC25A4 | c.198C>A (p.Gly66=) | |
| 4 | g.185144850C>G | CA442615195 | SLC25A4 | c.198C>G (p.Gly66=) | |
| 4 | g.185144850C>T | CA442615196 | SLC25A4 | c.198C>T (p.Gly66=) | |
| 4 | g.185144851T>A | CA358896098 | SLC25A4 | c.199T>A (p.Phe67Ile) | |
| 4 | g.185144851T>C | CA358896100 | SLC25A4 | c.199T>C (p.Phe67Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185144851T>G | CA358896099 | SLC25A4 | c.199T>G (p.Phe67Val) | |
| 4 | g.185144851T= | CA1519347070 | SLC25A4 | c.199T= (p.Phe67=) | |
| 4 | g.185144852T>A | CA358896101 | SLC25A4 | c.200T>A (p.Phe67Tyr) | |
| 4 | g.185144852T>C | CA358896102 | SLC25A4 | c.200T>C (p.Phe67Ser) | COSMIC |
| 4 | g.185144852T>G | CA358896103 | SLC25A4 | c.200T>G (p.Phe67Cys) | |
| 4 | g.185144853C>A | CA358896104 | SLC25A4 | c.201C>A (p.Phe67Leu) | |
| 4 | g.185144853C= | CA1519347072 | SLC25A4 | c.201C= (p.Phe67=) | |
| 4 | g.185144853C>G | CA358896105 | SLC25A4 | c.201C>G (p.Phe67Leu) | |
| 4 | g.185144853C>T | CA442615197 | SLC25A4 | c.201C>T (p.Phe67=) | dbSNP |
| 4 | g.185144854C>A | CA358896106 | SLC25A4 | c.202C>A (p.Leu68Ile) | |
| 4 | g.185144854C= | CA1519347074 | SLC25A4 | c.202C= (p.Leu68=) | |
| 4 | g.185144854C>G | CA358896107 | SLC25A4 | c.202C>G (p.Leu68Val) | |
| 4 | g.185144854C>T | CA358896108 | SLC25A4 | c.202C>T (p.Leu68Phe) | dbSNP gnomAD v4 |
| 4 | g.185144855T>A | CA358896109 | SLC25A4 | c.203T>A (p.Leu68His) | |
| 4 | g.185144855T>C | CA358896110 | SLC25A4 | c.203T>C (p.Leu68Pro) | |
| 4 | g.185144855T>G | CA358896111 | SLC25A4 | c.203T>G (p.Leu68Arg) | |
| 4 | g.185144856C>A | CA442615199 | SLC25A4 | c.204C>A (p.Leu68=) | |
| 4 | g.185144856C= | CA1519347076 | SLC25A4 | c.204C= (p.Leu68=) | |
| 4 | g.185144856C>G | CA442615200 | SLC25A4 | c.204C>G (p.Leu68=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185144856C>T | CA442615198 | SLC25A4 | c.204C>T (p.Leu68=) | dbSNP gnomAD v4 COSMIC |
| 4 | g.185144857T>A | CA358896114 | SLC25A4 | c.205T>A (p.Ser69Thr) | ClinVar |
| 4 | g.185144857T>C | CA358896113 | SLC25A4 | c.205T>C (p.Ser69Pro) | |
| 4 | g.185144857T>G | CA358896112 | SLC25A4 | c.205T>G (p.Ser69Ala) | |
| 4 | g.185144858C>A | CA358896117 | SLC25A4 | c.206C>A (p.Ser69Tyr) | |
| 4 | g.185144858C>G | CA358896115 | SLC25A4 | c.206C>G (p.Ser69Cys) | |
| 4 | g.185144858C>T | CA358896116 | SLC25A4 | c.206C>T (p.Ser69Phe) | |
| 4 | g.185144859C>A | CA442615201 | SLC25A4 | c.207C>A (p.Ser69=) | |
| 4 | g.185144859C= | CA1519347078 | SLC25A4 | c.207C= (p.Ser69=) | |
| 4 | g.185144859C>G | CA442615202 | SLC25A4 | c.207C>G (p.Ser69=) | |
| 4 | g.185144859C>T | CA442615203 | SLC25A4 | c.207C>T (p.Ser69=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185144860T>A | CA358896118 | SLC25A4 | c.208T>A (p.Phe70Ile) | |
| 4 | g.185144860T>C | CA358896119 | SLC25A4 | c.208T>C (p.Phe70Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.185144860T>G | CA358896120 | SLC25A4 | c.208T>G (p.Phe70Val) | |
| 4 | g.185144860T= | CA1519347081 | SLC25A4 | c.208T= (p.Phe70=) | |
| 4 | g.185144861T>A | CA358896121 | SLC25A4 | c.209T>A (p.Phe70Tyr) | |
| 4 | g.185144861T>C | CA358896122 | SLC25A4 | c.209T>C (p.Phe70Ser) | |
| 4 | g.185144861T>G | CA358896123 | SLC25A4 | c.209T>G (p.Phe70Cys) | |
| 4 | g.185144862C>A | CA358896124 | SLC25A4 | c.210C>A (p.Phe70Leu) | |
| 4 | g.185144862C>G | CA358896125 | SLC25A4 | c.210C>G (p.Phe70Leu) | |
| 4 | g.185144862C>T | CA442615204 | SLC25A4 | c.210C>T (p.Phe70=) | |
| 4 | g.185144863T>A | CA358896126 | SLC25A4 | c.211T>A (p.Trp71Arg) | |
| 4 | g.185144863T>C | CA358896127 | SLC25A4 | c.211T>C (p.Trp71Arg) | |
| 4 | g.185144863T>G | CA358896128 | SLC25A4 | c.211T>G (p.Trp71Gly) | |
| 4 | g.185144864G>A | CA358896131 | SLC25A4 | c.212G>A (p.Trp71Ter) | |
| 4 | g.185144864G>C | CA358896129 | SLC25A4 | c.212G>C (p.Trp71Ser) | |
| 4 | g.185144864G>T | CA358896130 | SLC25A4 | c.212G>T (p.Trp71Leu) | |
| 4 | g.185144865G>A | CA358896132 | SLC25A4 | c.213G>A (p.Trp71Ter) | |
| 4 | g.185144865G>C | CA358896133 | SLC25A4 | c.213G>C (p.Trp71Cys) | |
| 4 | g.185144865G>T | CA358896134 | SLC25A4 | c.213G>T (p.Trp71Cys) | |
| 4 | g.185144866A>C | CA442615205 | SLC25A4 | c.214A>C (p.Arg72=) | |
| 4 | g.185144866A>G | CA358896135 | SLC25A4 | c.214A>G (p.Arg72Gly) | |
| 4 | g.185144866A>T | CA358896136 | SLC25A4 | c.214A>T (p.Arg72Trp) | |
| 4 | g.185144867G>A | CA358896137 | SLC25A4 | c.215G>A (p.Arg72Lys) | gnomAD v4 |
| 4 | g.185144867G>C | CA358896138 | SLC25A4 | c.215G>C (p.Arg72Thr) | gnomAD v4 |
| 4 | g.185144867G>T | CA358896139 | SLC25A4 | c.215G>T (p.Arg72Met) | |
| 4 | g.185144868G>A | CA442615206 | SLC25A4 | c.216G>A (p.Arg72=) | |
| 4 | g.185144868G>C | CA358896140 | SLC25A4 | c.216G>C (p.Arg72Ser) | |
| 4 | g.185144868G>T | CA358896141 | SLC25A4 | c.216G>T (p.Arg72Ser) | |
| 4 | g.185144869G>A | CA358896142 | SLC25A4 | c.217G>A (p.Gly73Ser) | |
| 4 | g.185144869G>C | CA358896143 | SLC25A4 | c.217G>C (p.Gly73Arg) | |
| 4 | g.185144869G>T | CA358896144 | SLC25A4 | c.217G>T (p.Gly73Cys) | |
| 4 | g.185144870G>A | CA358896146 | SLC25A4 | c.218G>A (p.Gly73Asp) | |
| 4 | g.185144870G>C | CA358896147 | SLC25A4 | c.218G>C (p.Gly73Ala) | |
| 4 | g.185144870G>T | CA358896145 | SLC25A4 | c.218G>T (p.Gly73Val) | |
| 4 | g.185144871T>A | CA442615208 | SLC25A4 | c.219T>A (p.Gly73=) | |
| 4 | g.185144871T>C | CA442615209 | SLC25A4 | c.219T>C (p.Gly73=) | |
| 4 | g.185144871T>G | CA442615207 | SLC25A4 | c.219T>G (p.Gly73=) | |
| 4 | g.185144872A>C | CA358896148 | SLC25A4 | c.220A>C (p.Asn74His) | |
| 4 | g.185144872A>G | CA358896150 | SLC25A4 | c.220A>G (p.Asn74Asp) | gnomAD v4 |
| 4 | g.185144872A>T | CA358896149 | SLC25A4 | c.220A>T (p.Asn74Tyr) | |
| 4 | g.185144873A>C | CA358896151 | SLC25A4 | c.221A>C (p.Asn74Thr) | |
| 4 | g.185144873A>G | CA358896152 | SLC25A4 | c.221A>G (p.Asn74Ser) | |
| 4 | g.185144873A>T | CA358896153 | SLC25A4 | c.221A>T (p.Asn74Ile) | |
| 4 | g.185144874C>A | CA358896154 | SLC25A4 | c.222C>A (p.Asn74Lys) | ClinVar |
| 4 | g.185144874C>G | CA358896155 | SLC25A4 | c.222C>G (p.Asn74Lys) | gnomAD v4 |
| 4 | g.185144874C>T | CA442615210 | SLC25A4 | c.222C>T (p.Asn74=) | |
| 4 | g.185144875C>A | CA358896156 | SLC25A4 | c.223C>A (p.Leu75Met) | |
| 4 | g.185144875C= | CA1519347084 | SLC25A4 | c.223C= (p.Leu75=) | |
| 4 | g.185144875C>G | CA358896157 | SLC25A4 | c.223C>G (p.Leu75Val) | |
| 4 | g.185144875C>T | CA112005652 | SLC25A4 | c.223C>T (p.Leu75=) | dbSNP |
| 4 | g.185144876T>A | CA358896158 | SLC25A4 | c.224T>A (p.Leu75Gln) | |
| 4 | g.185144876T>C | CA358896159 | SLC25A4 | c.224T>C (p.Leu75Pro) | |
| 4 | g.185144876T>G | CA358896160 | SLC25A4 | c.224T>G (p.Leu75Arg) | |
| 4 | g.185144877G>A | CA442615212 | SLC25A4 | c.225G>A (p.Leu75=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185144877G>C | CA442615213 | SLC25A4 | c.225G>C (p.Leu75=) | |
| 4 | g.185144877G= | CA1519347087 | SLC25A4 | c.225G= (p.Leu75=) | |
| 4 | g.185144877G>T | CA442615211 | SLC25A4 | c.225G>T (p.Leu75=) | |
| 4 | g.185144878G>A | CA112005661 | SLC25A4 | c.226G>A (p.Ala76Thr) | dbSNP |
| 4 | g.185144878G>C | CA358896162 | SLC25A4 | c.226G>C (p.Ala76Pro) | |
| 4 | g.185144878G= | CA1519347092 | SLC25A4 | c.226G= (p.Ala76=) | |
| 4 | g.185144878G>T | CA358896161 | SLC25A4 | c.226G>T (p.Ala76Ser) | |
| 4 | g.185144879C>A | CA358896163 | SLC25A4 | c.227C>A (p.Ala76Asp) | |
| 4 | g.185144879C= | CA1519347095 | SLC25A4 | c.227C= (p.Ala76=) | |
| 4 | g.185144879C>G | CA358896164 | SLC25A4 | c.227C>G (p.Ala76Gly) | |
| 4 | g.185144879C>T | CA3156439 | SLC25A4 | c.227C>T (p.Ala76Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.185144880C>A | CA442615214 | SLC25A4 | c.228C>A (p.Ala76=) | |
| 4 | g.185144880C= | CA1519347100 | SLC25A4 | c.228C= (p.Ala76=) | |
| 4 | g.185144880C>G | CA442615215 | SLC25A4 | c.228C>G (p.Ala76=) | gnomAD v4 |
| 4 | g.185144880C>T | CA112005676 | SLC25A4 | c.228C>T (p.Ala76=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.185144881A>C | CA358896165 | SLC25A4 | c.229A>C (p.Asn77His) | |
| 4 | g.185144881A>G | CA358896166 | SLC25A4 | c.229A>G (p.Asn77Asp) | gnomAD v4 |
| 4 | g.185144881A>T | CA358896167 | SLC25A4 | c.229A>T (p.Asn77Tyr) | |
| 4 | g.185144882A>C | CA358896168 | SLC25A4 | c.230A>C (p.Asn77Thr) | |
| 4 | g.185144882A>G | CA358896169 | SLC25A4 | c.230A>G (p.Asn77Ser) | gnomAD v4 |
| 4 | g.185144882A>T | CA358896170 | SLC25A4 | c.230A>T (p.Asn77Ile) | |
| 4 | g.185144883C>A | CA358896171 | SLC25A4 | c.231C>A (p.Asn77Lys) | |
| 4 | g.185144883C>G | CA358896172 | SLC25A4 | c.231C>G (p.Asn77Lys) | |
| 4 | g.185144883C>T | CA442615216 | SLC25A4 | c.231C>T (p.Asn77=) | gnomAD v4 |
| 4 | g.185144884G>A | CA358896174 | SLC25A4 | c.232G>A (p.Val78Met) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.185144884G>C | CA358896175 | SLC25A4 | c.232G>C (p.Val78Leu) | |
| 4 | g.185144884G= | CA1519347103 | SLC25A4 | c.232G= (p.Val78=) | |
| 4 | g.185144884G>T | CA358896173 | SLC25A4 | c.232G>T (p.Val78Leu) | gnomAD v4 |
| 4 | g.185144885T>A | CA358896176 | SLC25A4 | c.233T>A (p.Val78Glu) | |
| 4 | g.185144885T>C | CA358896177 | SLC25A4 | c.233T>C (p.Val78Ala) | |
| 4 | g.185144885T>G | CA358896178 | SLC25A4 | c.233T>G (p.Val78Gly) | |
| 4 | g.185144886G>A | CA442615217 | SLC25A4 | c.234G>A (p.Val78=) | |
| 4 | g.185144886G>C | CA442615218 | SLC25A4 | c.234G>C (p.Val78=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185144886G= | CA1519347106 | SLC25A4 | c.234G= (p.Val78=) | |
| 4 | g.185144886G>T | CA442615219 | SLC25A4 | c.234G>T (p.Val78=) | |
| 4 | g.185144887A>C | CA358896179 | SLC25A4 | c.235A>C (p.Ile79Leu) | |
| 4 | g.185144887A>G | CA358896180 | SLC25A4 | c.235A>G (p.Ile79Val) | |
| 4 | g.185144887A>T | CA358896181 | SLC25A4 | c.235A>T (p.Ile79Phe) | |
| 4 | g.185144888T>A | CA358896184 | SLC25A4 | c.236T>A (p.Ile79Asn) | |
| 4 | g.185144888T>C | CA358896182 | SLC25A4 | c.236T>C (p.Ile79Thr) | gnomAD v4 |
| 4 | g.185144888T>G | CA358896183 | SLC25A4 | c.236T>G (p.Ile79Ser) | |
| 4 | g.185144889C>A | CA442615220 | SLC25A4 | c.237C>A (p.Ile79=) | |
| 4 | g.185144889C= | CA1519347110 | SLC25A4 | c.237C= (p.Ile79=) | |
| 4 | g.185144889C>G | CA358896185 | SLC25A4 | c.237C>G (p.Ile79Met) | dbSNP |
| 4 | g.185144889C>T | CA3156440 | SLC25A4 | c.237C>T (p.Ile79=) | dbSNP ExAC |
| 4 | g.185144890del | CA2672840944 | SLC25A4 | c.238del (p.Arg80ValfsTer21) | gnomAD v4 |
| 4 | g.185144890C>A | CA358896186 | SLC25A4 | c.238C>A (p.Arg80Ser) | |
| 4 | g.185144890C= | CA1519347114 | SLC25A4 | c.238C= (p.Arg80=) | |
| 4 | g.185144890C>G | CA358896187 | SLC25A4 | c.238C>G (p.Arg80Gly) | ClinVar dbSNP |
| 4 | g.185144890C>T | CA358896188 | SLC25A4 | c.238C>T (p.Arg80Cys) | COSMIC |
| 4 | g.185144891G>A | CA10602460 | SLC25A4 | c.239G>A (p.Arg80His) | ClinVar dbSNP COSMIC |
| 4 | g.185144891G>C | CA358896190 | SLC25A4 | c.239G>C (p.Arg80Pro) | |
| 4 | g.185144891G= | CA1519347120 | SLC25A4 | c.239G= (p.Arg80=) | |
| 4 | g.185144891G>T | CA358896189 | SLC25A4 | c.239G>T (p.Arg80Leu) | |
| 4 | g.185144892T>A | CA442615221 | SLC25A4 | c.240T>A (p.Arg80=) | |
| 4 | g.185144892T>C | CA442615222 | SLC25A4 | c.240T>C (p.Arg80=) | |
| 4 | g.185144892T>G | CA442615223 | SLC25A4 | c.240T>G (p.Arg80=) | dbSNP |
| 4 | g.185144892T= | CA1519347125 | SLC25A4 | c.240T= (p.Arg80=) | |
| 4 | g.185144893T>A | CA358896191 | SLC25A4 | c.241T>A (p.Tyr81Asn) | |
| 4 | g.185144893T>C | CA358896192 | SLC25A4 | c.241T>C (p.Tyr81His) | |
| 4 | g.185144893T>G | CA358896193 | SLC25A4 | c.241T>G (p.Tyr81Asp) | |
| 4 | g.185144894A>C | CA358896194 | SLC25A4 | c.242A>C (p.Tyr81Ser) | |
| 4 | g.185144894A>G | CA358896195 | SLC25A4 | c.242A>G (p.Tyr81Cys) | |
| 4 | g.185144894A>T | CA358896196 | SLC25A4 | c.242A>T (p.Tyr81Phe) | |
| 4 | g.185144895C>A | CA358896197 | SLC25A4 | c.243C>A (p.Tyr81Ter) | |
| 4 | g.185144895C= | CA1519347127 | SLC25A4 | c.243C= (p.Tyr81=) | |
| 4 | g.185144895C>G | CA358896198 | SLC25A4 | c.243C>G (p.Tyr81Ter) | |
| 4 | g.185144895C>T | CA3156441 | SLC25A4 | c.243C>T (p.Tyr81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.185144896T>A | CA358896199 | SLC25A4 | c.244T>A (p.Phe82Ile) | |
| 4 | g.185144896T>C | CA358896200 | SLC25A4 | c.244T>C (p.Phe82Leu) | dbSNP |
| 4 | g.185144896T>G | CA358896201 | SLC25A4 | c.244T>G (p.Phe82Val) | |
| 4 | g.185144896T= | CA1519347131 | SLC25A4 | c.244T= (p.Phe82=) | |
| 4 | g.185144897T>A | CA358896204 | SLC25A4 | c.245T>A (p.Phe82Tyr) | |
| 4 | g.185144897T>C | CA358896202 | SLC25A4 | c.245T>C (p.Phe82Ser) | |
| 4 | g.185144897T>G | CA358896203 | SLC25A4 | c.245T>G (p.Phe82Cys) | |
| 4 | g.185144898C>A | CA358896205 | SLC25A4 | c.246C>A (p.Phe82Leu) | |
| 4 | g.185144898C>G | CA358896206 | SLC25A4 | c.246C>G (p.Phe82Leu) | |
| 4 | g.185144898C>T | CA442615224 | SLC25A4 | c.246C>T (p.Phe82=) | |
| 4 | g.185144899C>A | CA358896207 | SLC25A4 | c.247C>A (p.Pro83Thr) | |
| 4 | g.185144899C>G | CA358896209 | SLC25A4 | c.247C>G (p.Pro83Ala) | |
| 4 | g.185144899C>T | CA358896208 | SLC25A4 | c.247C>T (p.Pro83Ser) | |
| 4 | g.185144900C>A | CA358896210 | SLC25A4 | c.248C>A (p.Pro83His) | |
| 4 | g.185144900C>G | CA358896211 | SLC25A4 | c.248C>G (p.Pro83Arg) | |
| 4 | g.185144900C>T | CA358896212 | SLC25A4 | c.248C>T (p.Pro83Leu) | |
| 4 | g.185144901C>A | CA442615227 | SLC25A4 | c.249C>A (p.Pro83=) | |
| 4 | g.185144901C>G | CA442615226 | SLC25A4 | c.249C>G (p.Pro83=) | |
| 4 | g.185144901C>T | CA442615225 | SLC25A4 | c.249C>T (p.Pro83=) | |
| 4 | g.185144902A= | CA1519347133 | SLC25A4 | c.250A= (p.Thr84=) | |
| 4 | g.185144902A>C | CA358896213 | SLC25A4 | c.250A>C (p.Thr84Pro) | |
| 4 | g.185144902A>G | CA358896214 | SLC25A4 | c.250A>G (p.Thr84Ala) | dbSNP |
| 4 | g.185144902A>T | CA358896215 | SLC25A4 | c.250A>T (p.Thr84Ser) | |
| 4 | g.185144903C>A | CA358896216 | SLC25A4 | c.251C>A (p.Thr84Asn) | |
| 4 | g.185144903C>G | CA358896217 | SLC25A4 | c.251C>G (p.Thr84Ser) | |
| 4 | g.185144903C>T | CA358896218 | SLC25A4 | c.251C>T (p.Thr84Ile) | |
| 4 | g.185144904C>A | CA442615229 | SLC25A4 | c.252C>A (p.Thr84=) | |
| 4 | g.185144904C= | CA1519347138 | SLC25A4 | c.252C= (p.Thr84=) | |
| 4 | g.185144904C>G | CA442615228 | SLC25A4 | c.252C>G (p.Thr84=) | gnomAD v4 |
| 4 | g.185144904C>T | CA3156442 | SLC25A4 | c.252C>T (p.Thr84=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.185144904_185144912delinsCCAAGCTCT | CA1519347139 | SLC25A4 | c.252_260delinsCCAAGCTCT (p.Thr84=) | |
| 4 | g.185144905C>A | CA358896221 | SLC25A4 | c.253C>A (p.Gln85Lys) | gnomAD v4 |
| 4 | g.185144905C= | CA1519347146 | SLC25A4 | c.253C= (p.Gln85=) | |
| 4 | g.185144905C>G | CA358896220 | SLC25A4 | c.253C>G (p.Gln85Glu) | |
| 4 | g.185144905C>T | CA358896219 | SLC25A4 | c.253C>T (p.Gln85Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.185144908_185144915del | CA1139658351 | SLC25A4 | c.256_263del (p.Ala86LeufsTer19) | ClinVar dbSNP gnomAD v4 |
| 4 | g.185144906A>C | CA358896222 | SLC25A4 | c.254A>C (p.Gln85Pro) | |
| 4 | g.185144906A>G | CA358896223 | SLC25A4 | c.254A>G (p.Gln85Arg) | |
| 4 | g.185144906A>T | CA358896224 | SLC25A4 | c.254A>T (p.Gln85Leu) | |
| 4 | g.185144907A>C | CA358896225 | SLC25A4 | c.255A>C (p.Gln85His) | |
| 4 | g.185144907A>G | CA442615230 | SLC25A4 | c.255A>G (p.Gln85=) | |
| 4 | g.185144907A>T | CA358896226 | SLC25A4 | c.255A>T (p.Gln85His) | |
| 4 | g.185144908G>A | CA358896227 | SLC25A4 | c.256G>A (p.Ala86Thr) | |
| 4 | g.185144908G>C | CA358896228 | SLC25A4 | c.256G>C (p.Ala86Pro) | |
| 4 | g.185144908G>T | CA358896229 | SLC25A4 | c.256G>T (p.Ala86Ser) | |
| 4 | g.185144909C>A | CA358896230 | SLC25A4 | c.257C>A (p.Ala86Asp) | gnomAD v4 |
| 4 | g.185144909C>G | CA358896231 | SLC25A4 | c.257C>G (p.Ala86Gly) | |
| 4 | g.185144909C>T | CA358896232 | SLC25A4 | c.257C>T (p.Ala86Val) | |
| 4 | g.185144910T>A | CA442615231 | SLC25A4 | c.258T>A (p.Ala86=) | |
| 4 | g.185144910T>C | CA442615232 | SLC25A4 | c.258T>C (p.Ala86=) | dbSNP |
| 4 | g.185144910T>G | CA442615233 | SLC25A4 | c.258T>G (p.Ala86=) | |
| 4 | g.185144910T= | CA1519347149 | SLC25A4 | c.258T= (p.Ala86=) | |
| 4 | g.185144911C>A | CA358896234 | SLC25A4 | c.259C>A (p.Leu87Ile) | |
| 4 | g.185144911C>G | CA358896235 | SLC25A4 | c.259C>G (p.Leu87Val) | gnomAD v4 |
| 4 | g.185144911C>T | CA358896233 | SLC25A4 | c.259C>T (p.Leu87Phe) | |
| 4 | g.185144912T>A | CA358896236 | SLC25A4 | c.260T>A (p.Leu87His) | |
| 4 | g.185144912T>C | CA358896237 | SLC25A4 | c.260T>C (p.Leu87Pro) | |
| 4 | g.185144912T>G | CA358896238 | SLC25A4 | c.260T>G (p.Leu87Arg) | |
| 4 | g.185144913C>A | CA442615234 | SLC25A4 | c.261C>A (p.Leu87=) | |
| 4 | g.185144913C= | CA1519347151 | SLC25A4 | c.261C= (p.Leu87=) | |
| 4 | g.185144913C>G | CA442615235 | SLC25A4 | c.261C>G (p.Leu87=) | dbSNP |
| 4 | g.185144913C>T | CA442615236 | SLC25A4 | c.261C>T (p.Leu87=) | |
| 4 | g.185144914A>C | CA358896239 | SLC25A4 | c.262A>C (p.Asn88His) | |
| 4 | g.185144914A>G | CA358896240 | SLC25A4 | c.262A>G (p.Asn88Asp) | |
| 4 | g.185144914A>T | CA358896241 | SLC25A4 | c.262A>T (p.Asn88Tyr) | |
| 4 | g.185144915dup | CA1519347153 | SLC25A4 | c.263dup (p.Asn88LysfsTer20) | ClinVar dbSNP |
| 4 | g.185144915A>C | CA358896244 | SLC25A4 | c.263A>C (p.Asn88Thr) | |
| 4 | g.185144915A>G | CA358896242 | SLC25A4 | c.263A>G (p.Asn88Ser) | |
| 4 | g.185144915A>T | CA358896243 | SLC25A4 | c.263A>T (p.Asn88Ile) | |
| 4 | g.185144916C>A | CA358896245 | SLC25A4 | c.264C>A (p.Asn88Lys) | gnomAD v4 |
| 4 | g.185144916C>G | CA358896246 | SLC25A4 | c.264C>G (p.Asn88Lys) | gnomAD v4 |
| 4 | g.185144916C>T | CA442615237 | SLC25A4 | c.264C>T (p.Asn88=) | |
| 4 | g.185144917T>A | CA358896247 | SLC25A4 | c.265T>A (p.Phe89Ile) | |
| 4 | g.185144917T>C | CA358896248 | SLC25A4 | c.265T>C (p.Phe89Leu) | |
| 4 | g.185144917T>G | CA358896249 | SLC25A4 | c.265T>G (p.Phe89Val) | |
| 4 | g.185144918T>A | CA358896250 | SLC25A4 | c.266T>A (p.Phe89Tyr) | |
| 4 | g.185144918T>C | CA358896252 | SLC25A4 | c.266T>C (p.Phe89Ser) | |
| 4 | g.185144918T>G | CA358896251 | SLC25A4 | c.266T>G (p.Phe89Cys) | |
| 4 | g.185144919C>A | CA358896253 | SLC25A4 | c.267C>A (p.Phe89Leu) | gnomAD v4 |
| 4 | g.185144919C= | CA1519347157 | SLC25A4 | c.267C= (p.Phe89=) | |
| 4 | g.185144919C>G | CA358896254 | SLC25A4 | c.267C>G (p.Phe89Leu) | gnomAD v4 |
| 4 | g.185144919C>T | CA3156443 | SLC25A4 | c.267C>T (p.Phe89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.185144920G>A | CA358896255 | SLC25A4 | c.268G>A (p.Ala90Thr) | |
| 4 | g.185144920G>C | CA358896256 | SLC25A4 | c.268G>C (p.Ala90Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.185144920G= | CA1519347159 | SLC25A4 | c.268G= (p.Ala90=) | |
| 4 | g.185144920G>T | CA358896257 | SLC25A4 | c.268G>T (p.Ala90Ser) | |
| 4 | g.185144921C>A | CA358896258 | SLC25A4 | c.269C>A (p.Ala90Asp) | |
| 4 | g.185144921C>G | CA358896259 | SLC25A4 | c.269C>G (p.Ala90Gly) | |
| 4 | g.185144921C>T | CA358896260 | SLC25A4 | c.269C>T (p.Ala90Val) | |
| 4 | g.185144922C>A | CA442615240 | SLC25A4 | c.270C>A (p.Ala90=) | |
| 4 | g.185144922C= | CA1519347163 | SLC25A4 | c.270C= (p.Ala90=) | |
| 4 | g.185144922C>G | CA442615239 | SLC25A4 | c.270C>G (p.Ala90=) | |
| 4 | g.185144922C>T | CA442615238 | SLC25A4 | c.270C>T (p.Ala90=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185144923T>A | CA358896261 | SLC25A4 | c.271T>A (p.Phe91Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.185144923T>C | CA358896262 | SLC25A4 | c.271T>C (p.Phe91Leu) | |
| 4 | g.185144923T>G | CA358896263 | SLC25A4 | c.271T>G (p.Phe91Val) | |
| 4 | g.185144923T= | CA1519347166 | SLC25A4 | c.271T= (p.Phe91=) | |
| 4 | g.185144924T>A | CA358896266 | SLC25A4 | c.272T>A (p.Phe91Tyr) | |
| 4 | g.185144924T>C | CA358896265 | SLC25A4 | c.272T>C (p.Phe91Ser) | |
| 4 | g.185144924T>G | CA358896264 | SLC25A4 | c.272T>G (p.Phe91Cys) | |
| 4 | g.185144925C>A | CA358896268 | SLC25A4 | c.273C>A (p.Phe91Leu) | |
| 4 | g.185144925C>G | CA358896267 | SLC25A4 | c.273C>G (p.Phe91Leu) | |
| 4 | g.185144925C>T | CA442615241 | SLC25A4 | c.273C>T (p.Phe91=) | |
| 4 | g.185144929_185144934dup | CA2672840945 | SLC25A4 | c.277_282dup (p.Lys94_Tyr95insAspLys) | gnomAD v4 |
| 4 | g.185144926A>C | CA358896271 | SLC25A4 | c.274A>C (p.Lys92Gln) | |
| 4 | g.185144926A>G | CA358896269 | SLC25A4 | c.274A>G (p.Lys92Glu) | |
| 4 | g.185144926A>T | CA358896270 | SLC25A4 | c.274A>T (p.Lys92Ter) | |
| 4 | g.185144927A>C | CA358896272 | SLC25A4 | c.275A>C (p.Lys92Thr) | |
| 4 | g.185144927A>G | CA358896273 | SLC25A4 | c.275A>G (p.Lys92Arg) | |
| 4 | g.185144927A>T | CA358896274 | SLC25A4 | c.275A>T (p.Lys92Met) | |
| 4 | g.185144928G>A | CA442615242 | SLC25A4 | c.276G>A (p.Lys92=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.185144928G>C | CA358896275 | SLC25A4 | c.276G>C (p.Lys92Asn) | |
| 4 | g.185144928G= | CA1519347169 | SLC25A4 | c.276G= (p.Lys92=) | |
| 4 | g.185144928G>T | CA358896276 | SLC25A4 | c.276G>T (p.Lys92Asn) |