| | LOC126862060, LOC126862061 +3282 more | Copy number gain | See cases | |
| | LOC125048449, LOC125048450 +3277 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861979, SRSF5 (R205C) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861979, SRSF5 (R205H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861979, SRSF5 (R214W) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861979, SRSF5 (R222W) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861979, SRSF5 (S227C) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861979, SRSF5 (R228S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861979, SRSF5 (S239N) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC126861979, SRSF5 (R242L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861979, SRSF5 (S246G) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861979, SRSF5 (D255E) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861979, SRSF5 (R260W) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861979, SRSF5 (N272D) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | 14q22.2q24.3 duplication | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |