| | LOC126861979, SRSF5 (D255E) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861979, SRSF5 (S246G) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861979, SRSF5 (R205C) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861979, SRSF5 (R214W) | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | not provided | |
| | LOC126861979, SRSF5 (R228S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861979, SRSF5 (S227C) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861979, SRSF5 (R242L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861979, SRSF5 (R260W) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861979, SRSF5 (S239N) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861979, SRSF5 (R205H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861979, SRSF5 (N272D) | Single nucleotide variant (missense variant) | not specified | |
| | | 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 | |
| | LOC125048431, LOC125048432 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130056152, LOC130056153 +503 more | Copy number loss | See cases | |