Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) |