UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.185144791G>A | CA358895961 | SLC25A4 | c.139G>A (p.Ala47Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185144791G>C | CA358895962 | SLC25A4 | c.139G>C (p.Ala47Pro) | |
| 4 | g.185144791G= | CA1519346998 | SLC25A4 | c.139G= (p.Ala47=) | |
| 4 | g.185144791G>T | CA358895963 | SLC25A4 | c.139G>T (p.Ala47Ser) | dbSNP |
| 4 | g.185144792C>A | CA358895965 | SLC25A4 | c.140C>A (p.Ala47Asp) | |
| 4 | g.185144792C= | CA1519347005 | SLC25A4 | c.140C= (p.Ala47=) | |
| 4 | g.185144792C>G | CA358895964 | SLC25A4 | c.140C>G (p.Ala47Gly) | |
| 4 | g.185144792C>T | CA3156430 | SLC25A4 | c.140C>T (p.Ala47Val) | dbSNP ExAC |
| 4 | g.185144793T>A | CA442615168 | SLC25A4 | c.141T>A (p.Ala47=) | dbSNP |
| 4 | g.185144793T>C | CA442615167 | SLC25A4 | c.141T>C (p.Ala47=) | dbSNP gnomAD v2 |
| 4 | g.185144793T>G | CA442615166 | SLC25A4 | c.141T>G (p.Ala47=) | |
| 4 | g.185144793T= | CA1519347008 | SLC25A4 | c.141T= (p.Ala47=) | |
| 4 | g.185144794G>A | CA358895966 | SLC25A4 | c.142G>A (p.Glu48Lys) | dbSNP |
| 4 | g.185144794G>C | CA3156431 | SLC25A4 | c.142G>C (p.Glu48Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.185144794G= | CA1519347012 | SLC25A4 | c.142G= (p.Glu48=) | |
| 4 | g.185144794G>T | CA358895967 | SLC25A4 | c.142G>T (p.Glu48Ter) | |
| 4 | g.185144795A>C | CA358895968 | SLC25A4 | c.143A>C (p.Glu48Ala) | |
| 4 | g.185144795A>G | CA358895969 | SLC25A4 | c.143A>G (p.Glu48Gly) | |
| 4 | g.185144795A>T | CA358895970 | SLC25A4 | c.143A>T (p.Glu48Val) | |
| 4 | g.185144796G>A | CA442615169 | SLC25A4 | c.144G>A (p.Glu48=) | |
| 4 | g.185144796G>C | CA358895971 | SLC25A4 | c.144G>C (p.Glu48Asp) | |
| 4 | g.185144796G>T | CA358895972 | SLC25A4 | c.144G>T (p.Glu48Asp) | |
| 4 | g.185144797A= | CA1519347016 | SLC25A4 | c.145A= (p.Lys49=) | |
| 4 | g.185144797A>C | CA3156432 | SLC25A4 | c.145A>C (p.Lys49Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.185144797A>G | CA358895973 | SLC25A4 | c.145A>G (p.Lys49Glu) | |
| 4 | g.185144797A>T | CA358895974 | SLC25A4 | c.145A>T (p.Lys49Ter) | |
| 4 | g.185144798A>C | CA358895975 | SLC25A4 | c.146A>C (p.Lys49Thr) | |
| 4 | g.185144798A>G | CA358895976 | SLC25A4 | c.146A>G (p.Lys49Arg) | |
| 4 | g.185144798A>T | CA358895977 | SLC25A4 | c.146A>T (p.Lys49Met) | |
| 4 | g.185144799G>A | CA442615170 | SLC25A4 | c.147G>A (p.Lys49=) | dbSNP |
| 4 | g.185144799G>C | CA358895978 | SLC25A4 | c.147G>C (p.Lys49Asn) | |
| 4 | g.185144799G= | CA1519347019 | SLC25A4 | c.147G= (p.Lys49=) | |
| 4 | g.185144799G>T | CA358895979 | SLC25A4 | c.147G>T (p.Lys49Asn) | |
| 4 | g.185144800C>A | CA358895982 | SLC25A4 | c.148C>A (p.Gln50Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.185144800C= | CA1519347022 | SLC25A4 | c.148C= (p.Gln50=) | |
| 4 | g.185144800C>G | CA358895981 | SLC25A4 | c.148C>G (p.Gln50Glu) | |
| 4 | g.185144800C>T | CA358895980 | SLC25A4 | c.148C>T (p.Gln50Ter) | |
| 4 | g.185144801A= | CA1519347024 | SLC25A4 | c.149A= (p.Gln50=) | |
| 4 | g.185144801A>C | CA358895983 | SLC25A4 | c.149A>C (p.Gln50Pro) | |
| 4 | g.185144801A>G | CA358895984 | SLC25A4 | c.149A>G (p.Gln50Arg) | dbSNP gnomAD v4 |
| 4 | g.185144801A>T | CA358895985 | SLC25A4 | c.149A>T (p.Gln50Leu) | COSMIC |
| 4 | g.185144802G>A | CA442615171 | SLC25A4 | c.150G>A (p.Gln50=) | |
| 4 | g.185144802G>C | CA358895986 | SLC25A4 | c.150G>C (p.Gln50His) | gnomAD v4 |
| 4 | g.185144802G>T | CA358895987 | SLC25A4 | c.150G>T (p.Gln50His) | |
| 4 | g.185144803T>A | CA358895988 | SLC25A4 | c.151T>A (p.Tyr51Asn) | |
| 4 | g.185144803T>C | CA358895989 | SLC25A4 | c.151T>C (p.Tyr51His) | |
| 4 | g.185144803T>G | CA358895990 | SLC25A4 | c.151T>G (p.Tyr51Asp) | |
| 4 | g.185144804A>C | CA358895991 | SLC25A4 | c.152A>C (p.Tyr51Ser) | |
| 4 | g.185144804A>G | CA358895992 | SLC25A4 | c.152A>G (p.Tyr51Cys) | |
| 4 | g.185144804A>T | CA358895993 | SLC25A4 | c.152A>T (p.Tyr51Phe) | |
| 4 | g.185144805C>A | CA358895994 | SLC25A4 | c.153C>A (p.Tyr51Ter) | |
| 4 | g.185144805C>G | CA358895995 | SLC25A4 | c.153C>G (p.Tyr51Ter) | |
| 4 | g.185144805C>T | CA442615172 | SLC25A4 | c.153C>T (p.Tyr51=) | |
| 4 | g.185144806A= | CA1519347026 | SLC25A4 | c.154A= (p.Lys52=) | |
| 4 | g.185144806A>C | CA358895997 | SLC25A4 | c.154A>C (p.Lys52Gln) | |
| 4 | g.185144806A>G | CA3156433 | SLC25A4 | c.154A>G (p.Lys52Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.185144806A>T | CA358895996 | SLC25A4 | c.154A>T (p.Lys52Ter) | |
| 4 | g.185144807A= | CA1519347029 | SLC25A4 | c.155A= (p.Lys52=) | |
| 4 | g.185144807A>C | CA358895998 | SLC25A4 | c.155A>C (p.Lys52Thr) | |
| 4 | g.185144807A>G | CA358895999 | SLC25A4 | c.155A>G (p.Lys52Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.185144807A>T | CA358896000 | SLC25A4 | c.155A>T (p.Lys52Ile) | |
| 4 | g.185144808A>C | CA358896001 | SLC25A4 | c.156A>C (p.Lys52Asn) | |
| 4 | g.185144808A>G | CA442615173 | SLC25A4 | c.156A>G (p.Lys52=) | |
| 4 | g.185144808A>T | CA358896002 | SLC25A4 | c.156A>T (p.Lys52Asn) | |
| 4 | g.185144809G>A | CA358896003 | SLC25A4 | c.157G>A (p.Gly53Arg) | gnomAD v4 |
| 4 | g.185144809G>C | CA358896004 | SLC25A4 | c.157G>C (p.Gly53Arg) | gnomAD v4 |
| 4 | g.185144809G>T | CA358896005 | SLC25A4 | c.157G>T (p.Gly53Trp) | |
| 4 | g.185144810G>A | CA358896006 | SLC25A4 | c.158G>A (p.Gly53Glu) | |
| 4 | g.185144810G>C | CA358896007 | SLC25A4 | c.158G>C (p.Gly53Ala) | |
| 4 | g.185144810G>T | CA358896008 | SLC25A4 | c.158G>T (p.Gly53Val) | |
| 4 | g.185144811G>A | CA442615174 | SLC25A4 | c.159G>A (p.Gly53=) | |
| 4 | g.185144811G>C | CA442615175 | SLC25A4 | c.159G>C (p.Gly53=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.185144811G= | CA1519347033 | SLC25A4 | c.159G= (p.Gly53=) | |
| 4 | g.185144811G>T | CA3156434 | SLC25A4 | c.159G>T (p.Gly53=) | dbSNP ExAC gnomAD v2 |
| 4 | g.185144812A>C | CA358896011 | SLC25A4 | c.160A>C (p.Ile54Leu) | |
| 4 | g.185144812A>G | CA358896009 | SLC25A4 | c.160A>G (p.Ile54Val) | |
| 4 | g.185144812A>T | CA358896010 | SLC25A4 | c.160A>T (p.Ile54Phe) | |
| 4 | g.185144813T>A | CA358896012 | SLC25A4 | c.161T>A (p.Ile54Asn) | |
| 4 | g.185144813T>C | CA358896013 | SLC25A4 | c.161T>C (p.Ile54Thr) | |
| 4 | g.185144813T>G | CA358896014 | SLC25A4 | c.161T>G (p.Ile54Ser) | |
| 4 | g.185144814C>A | CA442615176 | SLC25A4 | c.162C>A (p.Ile54=) | |
| 4 | g.185144814C>G | CA358896015 | SLC25A4 | c.162C>G (p.Ile54Met) | |
| 4 | g.185144814C>T | CA442615177 | SLC25A4 | c.162C>T (p.Ile54=) | |
| 4 | g.185144815A>C | CA358896016 | SLC25A4 | c.163A>C (p.Ile55Leu) | |
| 4 | g.185144815A>G | CA358896017 | SLC25A4 | c.163A>G (p.Ile55Val) | gnomAD v4 |
| 4 | g.185144815A>T | CA358896018 | SLC25A4 | c.163A>T (p.Ile55Phe) | gnomAD v4 |
| 4 | g.185144816T>A | CA358896019 | SLC25A4 | c.164T>A (p.Ile55Asn) | |
| 4 | g.185144816T>C | CA3156435 | SLC25A4 | c.164T>C (p.Ile55Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.185144816T>G | CA358896020 | SLC25A4 | c.164T>G (p.Ile55Ser) | |
| 4 | g.185144816T= | CA1519347036 | SLC25A4 | c.164T= (p.Ile55=) | |
| 4 | g.185144817T>A | CA442615178 | SLC25A4 | c.165T>A (p.Ile55=) | |
| 4 | g.185144817T>C | CA442615179 | SLC25A4 | c.165T>C (p.Ile55=) | |
| 4 | g.185144817T>G | CA358896021 | SLC25A4 | c.165T>G (p.Ile55Met) | |
| 4 | g.185144818G>A | CA358896024 | SLC25A4 | c.166G>A (p.Asp56Asn) | |
| 4 | g.185144818G>C | CA358896023 | SLC25A4 | c.166G>C (p.Asp56His) | COSMIC |
| 4 | g.185144818G>T | CA358896022 | SLC25A4 | c.166G>T (p.Asp56Tyr) | |
| 4 | g.185144819A>C | CA358896025 | SLC25A4 | c.167A>C (p.Asp56Ala) | |
| 4 | g.185144819A>G | CA358896027 | SLC25A4 | c.167A>G (p.Asp56Gly) | |
| 4 | g.185144819A>T | CA358896026 | SLC25A4 | c.167A>T (p.Asp56Val) | |
| 4 | g.185144820T>A | CA358896028 | SLC25A4 | c.168T>A (p.Asp56Glu) | |
| 4 | g.185144820T>C | CA3156436 | SLC25A4 | c.168T>C (p.Asp56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.185144820T>G | CA358896029 | SLC25A4 | c.168T>G (p.Asp56Glu) | |
| 4 | g.185144820T= | CA1519347041 | SLC25A4 | c.168T= (p.Asp56=) | |
| 4 | g.185144821T>A | CA358896030 | SLC25A4 | c.169T>A (p.Cys57Ser) | |
| 4 | g.185144821T>C | CA358896031 | SLC25A4 | c.169T>C (p.Cys57Arg) | |
| 4 | g.185144821T>G | CA358896032 | SLC25A4 | c.169T>G (p.Cys57Gly) | gnomAD v4 |
| 4 | g.185144822G>A | CA358896033 | SLC25A4 | c.170G>A (p.Cys57Tyr) | dbSNP gnomAD v4 |
| 4 | g.185144822G>C | CA358896034 | SLC25A4 | c.170G>C (p.Cys57Ser) | |
| 4 | g.185144822G= | CA1519347042 | SLC25A4 | c.170G= (p.Cys57=) | |
| 4 | g.185144822G>T | CA358896035 | SLC25A4 | c.170G>T (p.Cys57Phe) | |
| 4 | g.185144823T>A | CA358896036 | SLC25A4 | c.171T>A (p.Cys57Ter) | |
| 4 | g.185144823T>C | CA442615180 | SLC25A4 | c.171T>C (p.Cys57=) | dbSNP |
| 4 | g.185144823T>G | CA358896037 | SLC25A4 | c.171T>G (p.Cys57Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.185144823T= | CA1519347045 | SLC25A4 | c.171T= (p.Cys57=) | |
| 4 | g.185144824G>A | CA112005588 | SLC25A4 | c.172G>A (p.Val58Met) | dbSNP |
| 4 | g.185144824G>C | CA358896038 | SLC25A4 | c.172G>C (p.Val58Leu) | |
| 4 | g.185144824G= | CA1519347047 | SLC25A4 | c.172G= (p.Val58=) | |
| 4 | g.185144824G>T | CA112005589 | SLC25A4 | c.172G>T (p.Val58Leu) | dbSNP |
| 4 | g.185144825T>A | CA358896039 | SLC25A4 | c.173T>A (p.Val58Glu) | |
| 4 | g.185144825T>C | CA358896040 | SLC25A4 | c.173T>C (p.Val58Ala) | |
| 4 | g.185144825T>G | CA358896041 | SLC25A4 | c.173T>G (p.Val58Gly) | |
| 4 | g.185144826G>A | CA442615181 | SLC25A4 | c.174G>A (p.Val58=) | dbSNP |
| 4 | g.185144826G>C | CA442615182 | SLC25A4 | c.174G>C (p.Val58=) | dbSNP |
| 4 | g.185144826G= | CA1519347050 | SLC25A4 | c.174G= (p.Val58=) | |
| 4 | g.185144826G>T | CA442615183 | SLC25A4 | c.174G>T (p.Val58=) | |
| 4 | g.185144827G>A | CA358896042 | SLC25A4 | c.175G>A (p.Val59Met) | |
| 4 | g.185144827G>C | CA358896043 | SLC25A4 | c.175G>C (p.Val59Leu) | COSMIC |
| 4 | g.185144827G>T | CA358896044 | SLC25A4 | c.175G>T (p.Val59Leu) | |
| 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) |