| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_370960 | 22 | 51207468:51207552:51207852:51207980:51214199:51214261 | 51207852:51207980 | ENSG00000079974.13 | ENST00000436958.1 |
| exon_skip_370965 | 22 | 51207468:51207552:51207882:51207980:51214199:51214261 | 51207882:51207980 | ENSG00000079974.13 | ENST00000425098.1 |
| exon_skip_370967 | 22 | 51207882:51207977:51208332:51208444:51214199:51214261 | 51208332:51208444 | ENSG00000079974.13 | ENST00000435118.1,ENST00000395593.3,ENST00000395598.3 |
| exon_skip_370969 | 22 | 51207882:51207980:51208332:51208444:51214199:51214261 | 51208332:51208444 | ENSG00000079974.13 | ENST00000354869.3,ENST00000395595.3 |
| exon_skip_370972 | 22 | 51207882:51207980:51214199:51214279:51215097:51215177 | 51214199:51214279 | ENSG00000079974.13 | ENST00000425098.1,ENST00000436958.1 |
| exon_skip_370978 | 22 | 51208332:51208444:51214199:51214279:51215097:51215177 | 51214199:51214279 | ENSG00000079974.13 | ENST00000354869.3,ENST00000435118.1,ENST00000395593.3,ENST00000395598.3,ENST00000464678.1,ENST00000395595.3 |
| exon_skip_370980 | 22 | 51216379:51216409:51219040:51219146:51220615:51220779 | 51219040:51219146 | ENSG00000079974.13 | ENST00000468451.1 |
| exon_skip_370982 | 22 | 51216379:51216409:51220615:51220775:51221928:51222028 | 51220615:51220775 | ENSG00000079974.13 | ENST00000464740.1,ENST00000395598.3,ENST00000395590.1 |
| exon_skip_370983 | 22 | 51216379:51216409:51220615:51220779:51221928:51222028 | 51220615:51220779 | ENSG00000079974.13 | ENST00000354869.3,ENST00000436958.1,ENST00000395591.1 |
| exon_skip_371002 | 22 | 51220615:51220779:51221318:51221473:51221928:51222028 | 51221318:51221473 | ENSG00000079974.13 | ENST00000395593.3 |
| exon_skip_371007 | 22 | 51220615:51220779:51221466:51221714:51221928:51222028 | 51221466:51221714 | ENSG00000079974.13 | ENST00000395595.3 |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_370960 | 22 | 51207468:51207552:51207852:51207980:51214199:51214261 | 51207852:51207980 | ENSG00000079974.13 | ENST00000436958.1 |
| exon_skip_370965 | 22 | 51207468:51207552:51207882:51207980:51214199:51214261 | 51207882:51207980 | ENSG00000079974.13 | ENST00000425098.1 |
| exon_skip_370967 | 22 | 51207882:51207977:51208332:51208444:51214199:51214261 | 51208332:51208444 | ENSG00000079974.13 | ENST00000435118.1,ENST00000395593.3,ENST00000395598.3 |
| exon_skip_370969 | 22 | 51207882:51207980:51208332:51208444:51214199:51214261 | 51208332:51208444 | ENSG00000079974.13 | ENST00000354869.3,ENST00000395595.3 |
| exon_skip_370972 | 22 | 51207882:51207980:51214199:51214279:51215097:51215177 | 51214199:51214279 | ENSG00000079974.13 | ENST00000425098.1,ENST00000436958.1 |
| exon_skip_370978 | 22 | 51208332:51208444:51214199:51214279:51215097:51215177 | 51214199:51214279 | ENSG00000079974.13 | ENST00000435118.1,ENST00000354869.3,ENST00000395593.3,ENST00000395598.3,ENST00000395595.3,ENST00000464678.1 |
| exon_skip_370980 | 22 | 51216379:51216409:51219040:51219146:51220615:51220779 | 51219040:51219146 | ENSG00000079974.13 | ENST00000468451.1 |
| exon_skip_370982 | 22 | 51216379:51216409:51220615:51220775:51221928:51222028 | 51220615:51220775 | ENSG00000079974.13 | ENST00000395598.3,ENST00000395590.1,ENST00000464740.1 |
| exon_skip_370983 | 22 | 51216379:51216409:51220615:51220779:51221928:51222028 | 51220615:51220779 | ENSG00000079974.13 | ENST00000354869.3,ENST00000395591.1,ENST00000436958.1 |
| exon_skip_371002 | 22 | 51220615:51220779:51221318:51221473:51221928:51222028 | 51221318:51221473 | ENSG00000079974.13 | ENST00000395593.3 |
| exon_skip_371007 | 22 | 51220615:51220779:51221466:51221714:51221928:51222028 | 51221466:51221714 | ENSG00000079974.13 | ENST00000395595.3 |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_370960 exon_skip_370965
| 51207853 | 51207980 | 51207895 | 51207895 | Frame_Shift_Del | G | - | p.T165fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_370960 exon_skip_370965
| 51207883 | 51207980 | 51207895 | 51207895 | Frame_Shift_Del | G | - | p.T165fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_370960 exon_skip_370965
| 51207853 | 51207980 | 51207957 | 51207957 | Frame_Shift_Del | T | - | p.S145fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_370960 exon_skip_370965
| 51207883 | 51207980 | 51207957 | 51207957 | Frame_Shift_Del | T | - | p.S145fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_370960 exon_skip_370965
| 51207853 | 51207980 | 51207957 | 51207957 | Frame_Shift_Del | T | - | p.S145fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_370960 exon_skip_370965
| 51207883 | 51207980 | 51207957 | 51207957 | Frame_Shift_Del | T | - | p.S145fs |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_370960 exon_skip_370965
| 51207853 | 51207980 | 51207957 | 51207957 | Frame_Shift_Del | T | - | p.S145fs |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_370960 exon_skip_370965
| 51207883 | 51207980 | 51207957 | 51207957 | Frame_Shift_Del | T | - | p.S145fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_370982
| 51220616 | 51220775 | 51220707 | 51220707 | Frame_Shift_Del | T | - | p.T6fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_370983
| 51220616 | 51220779 | 51220707 | 51220707 | Frame_Shift_Del | T | - | p.T6fs |
| HNSC | TCGA-QK-A8Z7-01 | exon_skip_370960 exon_skip_370965
| 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.L145fs |
| HNSC | TCGA-QK-A8Z7-01 | exon_skip_370960 exon_skip_370965
| 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.L145fs |
| ACC | TCGA-OR-A5LL-01 | exon_skip_370967 exon_skip_370969
| 51208333 | 51208444 | 51208398 | 51208399 | Frame_Shift_Ins | - | A | p.W115fs |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| EN_ENDOMETRIUM | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| EN_ENDOMETRIUM | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| 786O_KIDNEY | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| 786O_KIDNEY | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| 8MGBA_CENTRAL_NERVOUS_SYSTEM | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| 8MGBA_CENTRAL_NERVOUS_SYSTEM | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| AGS_STOMACH | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| AGS_STOMACH | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| CAOV4_OVARY | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| CAOV4_OVARY | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| CAPAN2_PANCREAS | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| CAPAN2_PANCREAS | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| COLO741_SKIN | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| COLO741_SKIN | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| COV434_OVARY | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| COV434_OVARY | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| EKVX_LUNG | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| EKVX_LUNG | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| HS852T_SKIN | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| HS852T_SKIN | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| HT1080_SOFT_TISSUE | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| HT1080_SOFT_TISSUE | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| JHUEM3_ENDOMETRIUM | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| JHUEM3_ENDOMETRIUM | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| JHUEM7_ENDOMETRIUM | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| JHUEM7_ENDOMETRIUM | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| JK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| JK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| KNS60_CENTRAL_NERVOUS_SYSTEM | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| KNS60_CENTRAL_NERVOUS_SYSTEM | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| KPNYN_AUTONOMIC_GANGLIA | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| KPNYN_AUTONOMIC_GANGLIA | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| KYSE410_OESOPHAGUS | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| KYSE410_OESOPHAGUS | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| KYSE510_OESOPHAGUS | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| KYSE510_OESOPHAGUS | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| MDAMB468_BREAST | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| MDAMB468_BREAST | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| MDST8_LARGE_INTESTINE | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| MDST8_LARGE_INTESTINE | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| MHHCALL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| MHHCALL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| MOLM13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| MOLM13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| NCIH1373_LUNG | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| NCIH1373_LUNG | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| NCIH2066_LUNG | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| NCIH2066_LUNG | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| NCIH2228_LUNG | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| NCIH2228_LUNG | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| NCIH508_LARGE_INTESTINE | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| NCIH508_LARGE_INTESTINE | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| NCIH661_LUNG | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| NCIH661_LUNG | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| NIHOVCAR3_OVARY | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| NIHOVCAR3_OVARY | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| OC314_OVARY | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| OC314_OVARY | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| OE19_OESOPHAGUS | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| OE19_OESOPHAGUS | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| OELE_OVARY | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| OELE_OVARY | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| SF172_CENTRAL_NERVOUS_SYSTEM | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| SF172_CENTRAL_NERVOUS_SYSTEM | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| SF767_CENTRAL_NERVOUS_SYSTEM | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| SF767_CENTRAL_NERVOUS_SYSTEM | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| SLR20_KIDNEY | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| SLR20_KIDNEY | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| SNU1105_CENTRAL_NERVOUS_SYSTEM | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| SNU1105_CENTRAL_NERVOUS_SYSTEM | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| SNU1214_UPPER_AERODIGESTIVE_TRACT | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| SNU1214_UPPER_AERODIGESTIVE_TRACT | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| SNU213_PANCREAS | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| SNU213_PANCREAS | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| SNU423_LIVER | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| SNU423_LIVER | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| SUPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| SUPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| SW1990_PANCREAS | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| SW1990_PANCREAS | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| TCCSUP_URINARY_TRACT | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| TCCSUP_URINARY_TRACT | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| TE11_OESOPHAGUS | 51207853 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| TE11_OESOPHAGUS | 51207883 | 51207980 | 51207956 | 51207957 | Frame_Shift_Ins | - | T | p.S144fs |
| KATOIII_STOMACH | 51207853 | 51207980 | 51207956 | 51207958 | In_Frame_Del | CTT | - | p.143_144KS>N |
| KATOIII_STOMACH | 51207883 | 51207980 | 51207956 | 51207958 | In_Frame_Del | CTT | - | p.143_144KS>N |
| SKNAS_AUTONOMIC_GANGLIA | 51207853 | 51207980 | 51207916 | 51207916 | Missense_Mutation | G | C | p.F157L |
| SKNAS_AUTONOMIC_GANGLIA | 51207883 | 51207980 | 51207916 | 51207916 | Missense_Mutation | G | C | p.F157L |
| SNU1040_LARGE_INTESTINE | 51208333 | 51208444 | 51208347 | 51208347 | Missense_Mutation | G | A | p.A132V |
| SNUC2B_LARGE_INTESTINE | 51208333 | 51208444 | 51208351 | 51208351 | Missense_Mutation | C | A | p.V131L |
| TOV21G_OVARY | 51208333 | 51208444 | 51208375 | 51208375 | Missense_Mutation | T | C | p.R123G |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51214200 | 51214279 | 51214228 | 51214228 | Missense_Mutation | T | C | p.Y90C |
| HEC59_ENDOMETRIUM | 51220616 | 51220775 | 51220653 | 51220653 | Missense_Mutation | T | C | p.I24V |
| HEC59_ENDOMETRIUM | 51220616 | 51220779 | 51220653 | 51220653 | Missense_Mutation | T | C | p.I24V |