把我能看到的SLC25A13的突变贴出来吧（HGMD），方便对照：
Missense/nonsense 27：
Codon change Amino acid change
tGAG-TAG Glu-Term
GCA-GAA Ala-Glu
tCGA-TGA Arg-Term
cCGA-TGA Arg-Term
TCG-TAG Ser-Term
tCGA-TGA Arg-Term
GGT-GAT Gly-Asp
cGAT-AAT Asp-Asn
tCGA-TGA Arg-Term
aCGA-TGA Arg-Term
GGC-GTC Gly-Val
aGGT-AGT Gly-Ser
aCAG-TAG Gln-Term
cACA-CCA Thr-Pro
AAG-AGG Lys-Arg
tCGA-TGA Arg-Term
aTGC-CGC Cys-Arg
GGT-GAT Gly-Asp
GCT-GAT Ala-Asp
ACG-AGG Thr-Arg
ACG-ATG Thr-Met
CGA-CAA Arg-Gln
CTG-CGG Leu-Arg
cGAA-AAA Glu-Lys
cGAA-TAA Glu-Term
gCGA-TGA Arg-Term
CCG-CTG Pro-Leu
Splicing 10：
HGMD Splicing mutation
IVS1 as -1 G-A
IVS6 ds +1 G-A
IVS6 ds +1 G-C
IVS6 ds +5 G-A
IVS7 as -2 A-G
IVS8 ds +3 A-C
IVS11 ds +1 G-A
IVS13 ds +1 G-A
IVS13 ds +2 T-G
IVS15 ds +1 G-T
Small deletions，5：
Accession Number Deletion
(^codon number)
CD086219 TCCAAAG^57ACTgtGGAACTTTTA
CD991947 CCCTACAG_I8E9_ACgtatG^286ACCTTAGCA
CD082196 AGAAA^381GTGCTaCGCTATGAAG
CD103909 TTGCCA^397CAGTtATTGGGAGTT
CD082197 TTTGCAA^458GTGgCAGGAGAAAT
small instertion，1:
GCTG^599ACTTAaCGAATTGCTA
Gross deletions：
4.6 kb incl. ex. 3 (described at genomic DNA level)
516 bp, ex. 16-intr. 17 (described at genomic DNA level)
Gross insertions／duplication
Insertion of 3 kb in intr. 16 (described at genomic DNA level)
Duplication of c.1638_1660dup23 (described at genomic DNA level)
Duplication of ~9.5 kb ex. 15 (described at genomic DNA level)
