Table 5. Variations of genes mutated only in non-responder group and their genomic and amino acid change.
| Gene | Genomic change | Aminoacid |
|---|---|---|
| ALDH1L2 | c.484G>A | p.Gly162Ser |
| ALDH1L2 | c.1732A>C | p.Thr578Pro |
| ALDH1L2 | c.2086G>A | p.Gly696Ser |
| BCLAF1 | c.491A>C | p.Lys164Thr |
| BCLAF1 | c.1646T>C | p.Leu549Pro |
| BCLAF1 | c.1742A>T | p.Lys581Met |
| CLCN1 | c.823_825delGTCinsGGG | p.Val275Gly |
| CLCN1 | c.1289A>C | p.Asn430Thr |
| CLCN1 | c.1574C>G | p.Ala525Gly |
| CLCN1 | c.1073G>A | p.Cys358Tyr |
| CLCN1 | c.1427C>G | p.Thr476Ser |
| COG3 | c.943G>C | p.Glu315Gln |
| COG3 | c.505A>G | p.Thr169Ala |
| COG3 | c.1411T>A | p.Tyr471Asn |
| DIS3 | c.2312_2313delTAinsAA | p.Ile771Lys |
| DIS3 | c.2252C>G | p.Ala751Gly |
| DIS3 | c.2234C>T | p.Thr745Ile |
| DIS3 | c.2458C>T | p.Arg820Trp |
| ERBB4 | c.2761T>A | p.Tyr921Asn |
| ERBB4 | c.1541G>A | p.Gly514Glu |
| ERBB4 | c.1841G>A | p.Cys614Tyr |
| KARS | c.398T>C | p.Leu133Pro |
| KARS | c.1009G>T | p.Val337Phe |
| KARS | c.1066G>A | p.Asp356Asn |
| OR52N1 | c.589A>G | p.Asn197Asp |
| OR52N1 | c.569C>G | p.Ser190Cys |
| OR52N1 | c.53G>C | p.Gly18Ala |
| OR52N1 | c.82T>C | p.Trp28Arg |
| PDE6C | c.646T>A | p.Tyr216Asn |
| PDE6C | c.650T>C | p.Leu217Pro |
| PDE6C | c.1289G>A | p.Gly430Glu |
| PDE6C | c.1992G>T | p.Leu664Phe |
| PDHX | c.566G>C | p.Arg189Pro |
| PDHX | c.626G>A | p.Gly209Glu |
| PDHX | c.323G>A | p.Gly108Glu |
| SCN8A | c.2276T>C | p.Ile759Thr |
| SCN8A | c.4048G>A | p.Ala1350Thr |
| SCN8A | c.677G>A | p.Arg226Lys |
| SP140L | c.1425A>C | p.Lys475Asn |
| SP140L | c.329T>A | p.Leu110His |
| SP140L | c.1013C>A | p.Pro338His |
| THBS1 | c.634C>G | p.Leu212Val |
| THBS1 | c.1699_1700delGAinsGT | p.Asp567Val |
| THBS1 | c.2365G>A | p.Asp789Asn |
| THBS1 | c.1532G>C | p.Gly511Ala |
| UBE4A | c.1130T>A | p.Ile377Asn |
| UBE4A | c.2209G>A | p.Glu737Lys |
| UBE4A | c.3136G>T | p.Asp1046Tyr |
| ZNF12 | c.137C>G | p.Ser46Cys |
| ZNF12 | c.1265C>T | p.Ser422Phe |
| ZNF12 | c.2086C>T | p.Leu696Phe |