| Genename | Variants |
|---|---|
| SLC26A10(NM_133489,solute carrier family 26, member 10,563aa) | g.12:58019223C>T,c.1504C>T,p.R502C |
| SLC26A10(NM_133489,solute carrier family 26, member 10,563aa) | g.12:58019202C>T,c.1483C>T,p.R495X |
| SLC26A10(NM_133489,solute carrier family 26, member 10,563aa) | g.12:58018940G>T,c.1378+1G>T,p.460Donor |
| SLC26A10(NM_133489,solute carrier family 26, member 10,563aa) | g.12:58018668T>G,c.1247T>G,p.L416R |
| SLC26A10(NM_133489,solute carrier family 26, member 10,563aa) | g.12:58017870C>T,c.1216C>T,p.R406X |
| SLC26A10(NM_133489,solute carrier family 26, member 10,563aa) | g.12:58017860G>A,c.1206G>A,p.W402X |
| SLC26A10(NM_133489,solute carrier family 26, member 10,563aa) | g.12:58016890T>G,c.1023T>G,p.N341K |
| SLC26A10(NM_133489,solute carrier family 26, member 10,563aa) | g.12:58016690G>C,c.912G>C,p.K304N |
| SLC26A10(NM_133489,solute carrier family 26, member 10,563aa) | g.12:58015494G>A,c.577G>A,p.A193T |
| SLC26A10(NM_133489,solute carrier family 26, member 10,563aa) | g.12:58015175C>T,c.520C>T,p.L174F |
| SLC26A10(NM_133489,solute carrier family 26, member 10,563aa) | g.12:58015122G>A,c.467G>A,p.G156E |
| SLC26A10(NM_133489,solute carrier family 26, member 10,563aa) | g.12:58014747G>A,c.262G>A,p.G88S |
| SLC26A10(NM_133489,solute carrier family 26, member 10,563aa) | g.12:58014187C>T,c.184C>T,p.P62S |
| SLC25A5(NM_001152,solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5,298aa) | g.X:118605001G>T,c.877G>T,p.E293X |
| SLC25A5(NM_001152,solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5,298aa) | g.X:118604935T>C,c.811T>C,p.F271L |
| SLC25A5(NM_001152,solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5,298aa) | g.X:118604444G>C,c.707G>C,p.R236P |
| SLC25A5(NM_001152,solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5,298aa) | g.X:118604399C>G,c.662C>G,p.T221S |
| SLC25A5(NM_001152,solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5,298aa) | g.X:118603864G>A,c.352G>A,p.A118T |
| SLC25A5(NM_001152,solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5,298aa) | g.X:118603844T>G,c.332T>G,p.L111R |
| SLC25A5(NM_001152,solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5,298aa) | g.X:118603706_118603707insG,c.194_195insG,p.65fs |
| SLC25A53(NM_001012755,solute carrier family 25, member 53,307aa) | g.X:103349916C>T,c.25G>A,p.G9R |
| SLC25A53(NM_001012755,solute carrier family 25, member 53,307aa) | g.X:103349894G>A,c.47C>T,p.T16M |
| SLC25A53(NM_001012755,solute carrier family 25, member 53,307aa) | g.X:103349640T>C,c.301A>G,p.S101G |
| SLC25A52(NM_001034172,solute carrier family 25, member 52,307aa) | g.18:29339950C>G,c.705G>C,p.L235F |
| SLC25A52(NM_001034172,solute carrier family 25, member 52,307aa) | g.18:29339910G>T,c.745C>A,p.L249I |
| SLC25A52(NM_001034172,solute carrier family 25, member 52,307aa) | g.18:29339873G>A,c.782C>T,p.P261L |
| SLC25A51(NM_033412,solute carrier family 25, member 51,297aa) | g.9:37888532C>A,c.16G>T,p.A6S |
| SLC25A51(NM_033412,solute carrier family 25, member 51,297aa) | g.9:37888316G>A,c.232C>T,p.R78X |