GATA1 | APPPVCGSC | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK115 | Y | 5 | 10 | 0 | N |
GATA1 | APPPVCGSC | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK | Y | 5 | 10 | 0 | N |
GATA1 | CGSCSGVLH | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK115 | N | 0 | 0 | 0 | N |
GATA1 | CGSCSGVLH | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK | N | 0 | 0 | 0 | N |
GATA1 | CSGVLHTRI | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK115 | N | 4 | 0 | 0 | N |
GATA1 | CSGVLHTRI | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK | N | 4 | 0 | 0 | N |
GATA1 | DLRAPPPVC | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 6 | 0.22 | CMK115 | N | 2 | 0 | 0 | N |
GATA1 | DLRAPPPVC | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 6 | 0.22 | CMK | N | 2 | 0 | 0 | N |
GATA1 | GDLRAPPPV | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK115 | N | 5 | 0 | 0 | N |
GATA1 | GDLRAPPPV | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK | N | 5 | 0 | 0 | N |
GATA1 | GSCSGVLHT | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK115 | N | 1 | 0 | 0 | N |
GATA1 | GSCSGVLHT | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK | N | 1 | 0 | 0 | N |
GATA1 | GVLHTRIRG | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 23 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 6 | 0.22 | CMK115 | N | 0 | 0 | 0 | N |
GATA1 | GVLHTRIRG | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 23 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 6 | 0.22 | CMK | N | 0 | 0 | 0 | N |
GATA1 | GVPGDLRAP | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 6 | 0.22 | CMK115 | N | 0 | 0 | 0 | N |
GATA1 | GVPGDLRAP | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 6 | 0.22 | CMK | N | 0 | 0 | 0 | N |
GATA1 | HTRIRGFLP | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK115 | N | 2 | 0 | 0 | N |
GATA1 | HTRIRGFLP | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK | N | 2 | 0 | 0 | N |
GATA1 | IRGFLPLWA | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 4 | 0.22 | CMK115 | N | 4 | 0 | 41 | Y |
GATA1 | IRGFLPLWA | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 4 | 0.22 | CMK | N | 4 | 0 | 41 | Y |
GATA1 | LHTRIRGFL | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 6 | 0.22 | CMK115 | N | 8 | 0 | 4 | N |
GATA1 | LHTRIRGFL | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 6 | 0.22 | CMK | N | 8 | 0 | 4 | N |
GATA1 | LRAPPPVCG | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 11 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 6 | 0.22 | CMK115 | N | 1 | 0 | 0 | N |
GATA1 | LRAPPPVCG | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 11 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 6 | 0.22 | CMK | N | 1 | 0 | 0 | N |
GATA1 | MVPWPGVPG | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 6 | 0.22 | CMK115 | N | 0 | 0 | 4 | N |
GATA1 | MVPWPGVPG | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 6 | 0.22 | CMK | N | 0 | 0 | 4 | N |
GATA1 | PGDLRAPPP | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 8 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK115 | N | 0 | 0 | 0 | N |
GATA1 | PGDLRAPPP | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 8 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK | N | 0 | 0 | 0 | N |
GATA1 | PGVPGDLRA | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK115 | N | 0 | 0 | 0 | N |
GATA1 | PGVPGDLRA | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK | N | 0 | 0 | 0 | N |
GATA1 | PPPVCGSCS | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 14 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK115 | N | 0 | 0 | 0 | N |
GATA1 | PPPVCGSCS | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 14 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK | N | 0 | 0 | 0 | N |
GATA1 | PPVCGSCSG | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK115 | N | 0 | 0 | 0 | N |
GATA1 | PPVCGSCSG | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK | N | 0 | 0 | 0 | N |
GATA1 | PVCGSCSGV | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK115 | N | 0 | 0 | 0 | N |
GATA1 | PVCGSCSGV | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK | N | 0 | 0 | 0 | N |
GATA1 | PWPGVPGDL | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 6 | 0.22 | CMK115 | N | 0 | 0 | 0 | N |
GATA1 | PWPGVPGDL | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 6 | 0.22 | CMK | N | 0 | 0 | 0 | N |
GATA1 | RAPPPVCGS | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK115 | N | 2 | 0 | 0 | N |
GATA1 | RAPPPVCGS | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK | N | 2 | 0 | 0 | N |
GATA1 | RIRGFLPLW | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 4 | 0.22 | CMK115 | Y | 5 | 10 | 0 | N |
GATA1 | RIRGFLPLW | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 4 | 0.22 | CMK | Y | 5 | 10 | 0 | N |
GATA1 | SCSGVLHTR | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK115 | Y | 4 | 9 | 0 | N |
GATA1 | SCSGVLHTR | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK | Y | 4 | 9 | 0 | N |
GATA1 | SGVLHTRIR | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 22 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK115 | N | 1 | 0 | 0 | N |
GATA1 | SGVLHTRIR | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 22 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK | N | 1 | 0 | 0 | N |
GATA1 | TRIRGFLPL | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 4 | 0.22 | CMK115 | N | 9 | 0 | 0 | N |
GATA1 | TRIRGFLPL | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 4 | 0.22 | CMK | N | 9 | 0 | 0 | N |
GATA1 | VCGSCSGVL | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK115 | N | 6 | 0 | 2 | N |
GATA1 | VCGSCSGVL | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK | N | 6 | 0 | 2 | N |
GATA1 | VLHTRIRGF | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 6 | 0.22 | CMK115 | Y | 6 | 9 | 3 | N |
GATA1 | VLHTRIRGF | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 6 | 0.22 | CMK | Y | 6 | 9 | 3 | N |
GATA1 | VPGDLRAPP | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK115 | N | 2 | 0 | 0 | Y |
GATA1 | VPGDLRAPP | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 5 | 0.22 | CMK | N | 2 | 0 | 0 | Y |
GATA1 | VPWPGVPGD | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 2 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 6 | 0.22 | CMK115 | N | 2 | 0 | 0 | N |
GATA1 | VPWPGVPGD | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 2 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 6 | 0.22 | CMK | N | 2 | 0 | 0 | N |
GATA1 | WPGVPGDLR | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 6 | 0.22 | CMK115 | N | 6 | 0 | 0 | N |
GATA1 | WPGVPGDLR | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4 | p.E2fs | c.4_5delGA | Frame_Shift_Del | 6 | 0.22 | CMK | N | 6 | 0 | 0 | N |
GATA1 | AEAYRPSPV | OESOPHAGUS | 66 | p.H71P | c.212A>C | Missense_Mutation | 1 | 0.11 | ECGI10 | Y | 7 | 12 | 0 | N |
GATA1 | AGLAYGKTG | STOMACH | 94 | p.W96L | c.287G>T | Missense_Mutation | 1 | 0.11 | GSU | N | 0 | 0 | 0 | N |
GATA1 | ARTQCTNCQ | LUNG | 254 | p.G255R | c.763G>C | Missense_Mutation | 1 | 0.11 | NCIH1944 | N | 1 | 0 | 0 | Y |
GATA1 | ASGKGKKKW | CENTRAL_NERVOUS_SYSTEM | 309 | p.R317W | c.949C>T | Missense_Mutation | 1 | 0.11 | SW1783 | N | 3 | 0 | 0 | N |
GATA1 | ASTVCPTCE | SOFT_TISSUE | 106 | p.R113C | c.337C>T | Missense_Mutation | 1 | 0.11 | SKUT1 | N | 0 | 0 | 0 | N |
GATA1 | ATVTPLWRR | LARGE_INTESTINE | 209 | p.A211V | c.632C>T | Missense_Mutation | 1 | 0.11 | CW2 | N | 6 | 0 | 0 | N |
GATA1 | AYRPSPVFQ | OESOPHAGUS | 68 | p.H71P | c.212A>C | Missense_Mutation | 1 | 0.11 | ECGI10 | Y | 0 | 11 | 0 | N |
GATA1 | CDACGLYHK | LARGE_INTESTINE | 225 | p.N226D | c.676A>G | Missense_Mutation | 1 | 0.11 | CCK81 | N | 0 | 0 | 0 | N |
GATA1 | CEDSPPQAV | SOFT_TISSUE | 113 | p.R113C | c.337C>T | Missense_Mutation | 1 | 0.11 | SKUT1 | Y | 6 | 10 | 0 | N |
GATA1 | CGATVTPLW | LARGE_INTESTINE | 207 | p.A211V | c.632C>T | Missense_Mutation | 1 | 0.11 | CW2 | N | 1 | 0 | 0 | N |
GATA1 | CKASGKGKK | SKIN | 307 | p.R307C | c.919C>T | Missense_Mutation | 1 | 0.11 | K029AX | N | 1 | 0 | 0 | N |
GATA1 | CPTCEDSPP | SOFT_TISSUE | 110 | p.R113C | c.337C>T | Missense_Mutation | 1 | 0.11 | SKUT1 | N | 0 | 0 | 0 | N |
GATA1 | CVNCGATVT | LARGE_INTESTINE | 204 | p.A211V | c.632C>T | Missense_Mutation | 1 | 0.11 | CW2 | N | 1 | 0 | 0 | N |
GATA1 | DACGLYHKM | LARGE_INTESTINE | 226 | p.N226D | c.676A>G | Missense_Mutation | 1 | 0.11 | CCK81 | N | 5 | 0 | 0 | N |
GATA1 | DAEAYRPSP | OESOPHAGUS | 65 | p.H71P | c.212A>C | Missense_Mutation | 1 | 0.11 | ECGI10 | N | 0 | 0 | 0 | N |
GATA1 | DGIQTRNCK | SKIN | 300 | p.R307C | c.919C>T | Missense_Mutation | 1 | 0.11 | K029AX | N | 0 | 0 | 0 | N |
GATA1 | DRTGHYLCD | LARGE_INTESTINE | 218 | p.N226D | c.676A>G | Missense_Mutation | 1 | 0.11 | CCK81 | N | 0 | 0 | 0 | N |
GATA1 | DSPPQVVED | BILIARY_TRACT | 115 | p.A120V | c.359C>T | Missense_Mutation | 1 | 0.11 | HUH28 | N | 0 | 0 | 0 | N |
GATA1 | EAYRPSPVF | OESOPHAGUS | 67 | p.H71P | c.212A>C | Missense_Mutation | 1 | 0.11 | ECGI10 | N | 11 | 0 | 0 | N |
GATA1 | ECVNCGATV | LARGE_INTESTINE | 203 | p.A211V | c.632C>T | Missense_Mutation | 1 | 0.11 | CW2 | N | 1 | 0 | 0 | N |
GATA1 | EDSPPQVVE | BILIARY_TRACT | 114 | p.A120V | c.359C>T | Missense_Mutation | 1 | 0.11 | HUH28 | N | 0 | 0 | 0 | N |
GATA1 | EGTGAAEGP | SKIN | 322 | p.G322E | c.965G>A | Missense_Mutation | 1 | 0.11 | HS695T | N | 0 | 0 | 0 | N |
GATA1 | ESEVFFPSG | URINARY_TRACT | 29 | p.G31E | c.92G>A | Missense_Mutation | 1 | 0.11 | CAL29 | N | 1 | 0 | 0 | Y |
GATA1 | EVFFPSGPE | URINARY_TRACT | 31 | p.G31E | c.92G>A | Missense_Mutation | 1 | 0.11 | CAL29 | N | 0 | 0 | 0 | N |
GATA1 | FLTGPMPPT | LUNG | 394 | p.P395L | c.1184C>T | Missense_Mutation | 1 | 0.11 | CORL23 | N | 5 | 0 | 0 | N |
GATA1 | FQVYPLPNC | KIDNEY | 75 | p.L81P | c.242T>C | Missense_Mutation | 1 | 0.11 | CAL54 | N | 6 | 0 | 11 | N |
GATA1 | GATVTPLWR | LARGE_INTESTINE | 208 | p.A211V | c.632C>T | Missense_Mutation | 1 | 0.11 | CW2 | N | 5 | 0 | 0 | N |
GATA1 | GGSPYAGLA | STOMACH | 89 | p.W96L | c.287G>T | Missense_Mutation | 1 | 0.11 | GSU | N | 1 | 0 | 0 | N |
GATA1 | GHYLCDACG | LARGE_INTESTINE | 221 | p.N226D | c.676A>G | Missense_Mutation | 1 | 0.11 | CCK81 | N | 0 | 0 | 0 | N |
GATA1 | GIQTRNCKA | SKIN | 301 | p.R307C | c.919C>T | Missense_Mutation | 1 | 0.11 | K029AX | N | 0 | 0 | 0 | N |
GATA1 | GKGKKKWGS | CENTRAL_NERVOUS_SYSTEM | 311 | p.R317W | c.949C>T | Missense_Mutation | 1 | 0.11 | SW1783 | N | 1 | 0 | 0 | N |
GATA1 | GKKKWGSSL | CENTRAL_NERVOUS_SYSTEM | 313 | p.R317W | c.949C>T | Missense_Mutation | 1 | 0.11 | SW1783 | N | 3 | 0 | 0 | N |
GATA1 | GLAYGKTGL | STOMACH | 95 | p.W96L | c.287G>T | Missense_Mutation | 1 | 0.11 | GSU | N | 8 | 0 | 0 | N |
GATA1 | GQNRPLIRR | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 236 | p.P244R | c.731C>G | Missense_Mutation | 1 | 0.11 | HUT78 | Y | 7 | 11 | 0 | Y |
GATA1 | GSFLTGPMP | LUNG | 392 | p.P395L | c.1184C>T | Missense_Mutation | 1 | 0.11 | CORL23 | N | 0 | 0 | 0 | N |
GATA1 | GSPTGSFLT | LUNG | 388 | p.P395L | c.1184C>T | Missense_Mutation | 1 | 0.11 | CORL23 | N | 2 | 0 | 0 | N |
GATA1 | GSPYAGLAY | STOMACH | 90 | p.W96L | c.287G>T | Missense_Mutation | 1 | 0.11 | GSU | N | 6 | 0 | 0 | N |
GATA1 | GSSLEGTGA | SKIN | 318 | p.G322E | c.965G>A | Missense_Mutation | 1 | 0.11 | HS695T | N | 1 | 0 | 0 | N |
GATA1 | HYLCDACGL | LARGE_INTESTINE | 222 | p.N226D | c.676A>G | Missense_Mutation | 1 | 0.11 | CCK81 | Y | 7 | 9 | 0 | N |
GATA1 | IQTRNCKAS | SKIN | 302 | p.R307C | c.919C>T | Missense_Mutation | 1 | 0.11 | K029AX | N | 0 | 0 | 10 | N |
GATA1 | IRRKKRLIV | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 242 | p.P244R | c.731C>G | Missense_Mutation | 1 | 0.11 | HUT78 | Y | 7 | 9 | 35 | N |
GATA1 | IVSKRARTQ | LUNG | 249 | p.G255R | c.763G>C | Missense_Mutation | 1 | 0.11 | NCIH1944 | N | 0 | 0 | 19 | Y |
GATA1 | KDGIQTRNC | SKIN | 299 | p.R307C | c.919C>T | Missense_Mutation | 1 | 0.11 | K029AX | N | 1 | 0 | 0 | N |
GATA1 | KGKKKWGSS | CENTRAL_NERVOUS_SYSTEM | 312 | p.R317W | c.949C>T | Missense_Mutation | 1 | 0.11 | SW1783 | N | 2 | 0 | 0 | N |
GATA1 | KKKRGSSLE | SKIN | 314 | p.G322E | c.965G>A | Missense_Mutation | 1 | 0.11 | HS695T | N | 0 | 0 | 0 | N |
GATA1 | KKKWGSSLG | CENTRAL_NERVOUS_SYSTEM | 314 | p.R317W | c.949C>T | Missense_Mutation | 1 | 0.11 | SW1783 | N | 0 | 0 | 0 | N |
GATA1 | KKRGSSLEG | SKIN | 315 | p.G322E | c.965G>A | Missense_Mutation | 1 | 0.11 | HS695T | N | 0 | 0 | 0 | N |
GATA1 | KKWGSSLGG | CENTRAL_NERVOUS_SYSTEM | 315 | p.R317W | c.949C>T | Missense_Mutation | 1 | 0.11 | SW1783 | N | 0 | 0 | 0 | N |
GATA1 | KRARTQCTN | LUNG | 252 | p.G255R | c.763G>C | Missense_Mutation | 1 | 0.11 | NCIH1944 | N | 2 | 0 | 0 | Y |
GATA1 | KRGSSLEGT | SKIN | 316 | p.G322E | c.965G>A | Missense_Mutation | 1 | 0.11 | HS695T | N | 2 | 0 | 0 | N |
GATA1 | KWGSSLGGT | CENTRAL_NERVOUS_SYSTEM | 316 | p.R317W | c.949C>T | Missense_Mutation | 1 | 0.11 | SW1783 | N | 0 | 0 | 0 | N |
GATA1 | LAYGKTGLY | STOMACH | 96 | p.W96L | c.287G>T | Missense_Mutation | 1 | 0.11 | GSU | N | 11 | 0 | 0 | N |
GATA1 | LCDACGLYH | LARGE_INTESTINE | 224 | p.N226D | c.676A>G | Missense_Mutation | 1 | 0.11 | CCK81 | N | 1 | 0 | 0 | N |
GATA1 | LEGTGAAEG | SKIN | 321 | p.G322E | c.965G>A | Missense_Mutation | 1 | 0.11 | HS695T | N | 0 | 0 | 0 | Y |
GATA1 | LGSPTGSFL | LUNG | 387 | p.P395L | c.1184C>T | Missense_Mutation | 1 | 0.11 | CORL23 | N | 12 | 0 | 0 | N |
GATA1 | LIRRKKRLI | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 241 | p.P244R | c.731C>G | Missense_Mutation | 1 | 0.11 | HUT78 | N | 7 | 0 | 18 | N |
GATA1 | LIVSKRART | LUNG | 248 | p.G255R | c.763G>C | Missense_Mutation | 1 | 0.11 | NCIH1944 | N | 1 | 0 | 5 | Y |
GATA1 | LPNCMEGIP | KIDNEY | 80 | p.L81P | c.242T>C | Missense_Mutation | 1 | 0.11 | CAL54 | N | 2 | 0 | 0 | N |
GATA1 | LTGPMPPTT | LUNG | 395 | p.P395L | c.1184C>T | Missense_Mutation | 1 | 0.11 | CORL23 | N | 1 | 0 | 0 | N |
GATA1 | LVSSTPESE | URINARY_TRACT | 23 | p.G31E | c.92G>A | Missense_Mutation | 1 | 0.11 | CAL29 | N | 0 | 0 | 1 | N |
GATA1 | NCGATVTPL | LARGE_INTESTINE | 206 | p.A211V | c.632C>T | Missense_Mutation | 1 | 0.11 | CW2 | N | 5 | 0 | 0 | N |
GATA1 | NCKASGKGK | SKIN | 306 | p.R307C | c.919C>T | Missense_Mutation | 1 | 0.11 | K029AX | N | 0 | 0 | 0 | N |
GATA1 | NRPLIRRKK | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 238 | p.P244R | c.731C>G | Missense_Mutation | 1 | 0.11 | HUT78 | N | 2 | 0 | 0 | N |
GATA1 | PASTVCPTC | SOFT_TISSUE | 105 | p.R113C | c.337C>T | Missense_Mutation | 1 | 0.11 | SKUT1 | N | 0 | 0 | 0 | N |
GATA1 | PESEVFFPS | URINARY_TRACT | 28 | p.G31E | c.92G>A | Missense_Mutation | 1 | 0.11 | CAL29 | N | 0 | 0 | 0 | N |
GATA1 | PGGSPYAGL | STOMACH | 88 | p.W96L | c.287G>T | Missense_Mutation | 1 | 0.11 | GSU | N | 2 | 0 | 0 | N |
GATA1 | PLIRRKKRL | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 240 | p.P244R | c.731C>G | Missense_Mutation | 1 | 0.11 | HUT78 | N | 3 | 0 | 0 | N |
GATA1 | PLPNCMEGI | KIDNEY | 79 | p.L81P | c.242T>C | Missense_Mutation | 1 | 0.11 | CAL54 | N | 2 | 0 | 0 | N |
GATA1 | PNCMEGIPG | KIDNEY | 81 | p.L81P | c.242T>C | Missense_Mutation | 1 | 0.11 | CAL54 | N | 0 | 0 | 0 | N |
GATA1 | PPQVVEDLD | BILIARY_TRACT | 117 | p.A120V | c.359C>T | Missense_Mutation | 1 | 0.11 | HUH28 | N | 0 | 0 | 0 | Y |
GATA1 | PQVVEDLDG | BILIARY_TRACT | 118 | p.A120V | c.359C>T | Missense_Mutation | 1 | 0.11 | HUH28 | N | 0 | 0 | 0 | N |
GATA1 | PSPVFQVYP | OESOPHAGUS | 71 | p.H71P | c.212A>C | Missense_Mutation | 1 | 0.11 | ECGI10 | N | 0 | 0 | 0 | N |
GATA1 | PTCEDSPPQ | SOFT_TISSUE | 111 | p.R113C | c.337C>T | Missense_Mutation | 1 | 0.11 | SKUT1 | N | 0 | 0 | 0 | N |
GATA1 | PTGSFLTGP | LUNG | 390 | p.P395L | c.1184C>T | Missense_Mutation | 1 | 0.11 | CORL23 | N | 0 | 0 | 0 | N |
GATA1 | PVFQVYPLP | KIDNEY | 73 | p.L81P | c.242T>C | Missense_Mutation | 1 | 0.11 | CAL54 | N | 0 | 0 | 0 | Y |
GATA1 | PYAGLAYGK | STOMACH | 92 | p.W96L | c.287G>T | Missense_Mutation | 1 | 0.11 | GSU | N | 0 | 0 | 0 | N |
GATA1 | QNRPLIRRK | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 237 | p.P244R | c.731C>G | Missense_Mutation | 1 | 0.11 | HUT78 | Y | 0 | 19 | 0 | N |
GATA1 | QTRNCKASG | SKIN | 303 | p.R307C | c.919C>T | Missense_Mutation | 1 | 0.11 | K029AX | N | 0 | 0 | 0 | N |
GATA1 | QVVEDLDGK | BILIARY_TRACT | 119 | p.A120V | c.359C>T | Missense_Mutation | 1 | 0.11 | HUH28 | N | 4 | 0 | 0 | N |
GATA1 | QVYPLPNCM | KIDNEY | 76 | p.L81P | c.242T>C | Missense_Mutation | 1 | 0.11 | CAL54 | Y | 9 | 10 | 0 | N |
GATA1 | RARTQCTNC | LUNG | 253 | p.G255R | c.763G>C | Missense_Mutation | 1 | 0.11 | NCIH1944 | N | 2 | 0 | 0 | Y |
GATA1 | RDAEAYRPS | OESOPHAGUS | 64 | p.H71P | c.212A>C | Missense_Mutation | 1 | 0.11 | ECGI10 | N | 4 | 0 | 0 | N |
GATA1 | REDSPPQVV | BILIARY_TRACT | 113 | p.A120V | c.359C>T | Missense_Mutation | 1 | 0.11 | HUH28 | Y | 10 | 11 | 0 | N |
GATA1 | RGSSLEGTG | SKIN | 317 | p.G322E | c.965G>A | Missense_Mutation | 1 | 0.11 | HS695T | N | 0 | 0 | 0 | N |
GATA1 | RKKRLIVSK | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 244 | p.P244R | c.731C>G | Missense_Mutation | 1 | 0.11 | HUT78 | N | 2 | 0 | 0 | N |
GATA1 | RLIVSKRAR | LUNG | 247 | p.G255R | c.763G>C | Missense_Mutation | 1 | 0.11 | NCIH1944 | Y | 5 | 10 | 0 | Y |
GATA1 | RNCKASGKG | SKIN | 305 | p.R307C | c.919C>T | Missense_Mutation | 1 | 0.11 | K029AX | N | 0 | 0 | 0 | N |
GATA1 | RPLIRRKKR | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 239 | p.P244R | c.731C>G | Missense_Mutation | 1 | 0.11 | HUT78 | N | 4 | 0 | 0 | N |
GATA1 | RPSPVFQVY | OESOPHAGUS | 70 | p.H71P | c.212A>C | Missense_Mutation | 1 | 0.11 | ECGI10 | Y | 14 | 14 | 0 | N |
GATA1 | RRKKRLIVS | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 243 | p.P244R | c.731C>G | Missense_Mutation | 1 | 0.11 | HUT78 | N | 4 | 0 | 0 | N |
GATA1 | RTGHYLCDA | LARGE_INTESTINE | 219 | p.N226D | c.676A>G | Missense_Mutation | 1 | 0.11 | CCK81 | N | 2 | 0 | 0 | N |
GATA1 | RTQCTNCQT | LUNG | 255 | p.G255R | c.763G>C | Missense_Mutation | 1 | 0.11 | NCIH1944 | N | 1 | 0 | 0 | N |
GATA1 | SEVFFPSGP | URINARY_TRACT | 30 | p.G31E | c.92G>A | Missense_Mutation | 1 | 0.11 | CAL29 | N | 2 | 0 | 0 | Y |
GATA1 | SFLTGPMPP | LUNG | 393 | p.P395L | c.1184C>T | Missense_Mutation | 1 | 0.11 | CORL23 | N | 0 | 0 | 0 | N |
GATA1 | SGKGKKKWG | CENTRAL_NERVOUS_SYSTEM | 310 | p.R317W | c.949C>T | Missense_Mutation | 1 | 0.11 | SW1783 | N | 0 | 0 | 0 | N |
GATA1 | SKRARTQCT | LUNG | 251 | p.G255R | c.763G>C | Missense_Mutation | 1 | 0.11 | NCIH1944 | N | 1 | 0 | 0 | Y |
GATA1 | SLEGTGAAE | SKIN | 320 | p.G322E | c.965G>A | Missense_Mutation | 1 | 0.11 | HS695T | N | 0 | 0 | 0 | Y |
GATA1 | SPPQVVEDL | BILIARY_TRACT | 116 | p.A120V | c.359C>T | Missense_Mutation | 1 | 0.11 | HUH28 | Y | 21 | 11 | 0 | N |
GATA1 | SPTGSFLTG | LUNG | 389 | p.P395L | c.1184C>T | Missense_Mutation | 1 | 0.11 | CORL23 | N | 0 | 0 | 0 | N |
GATA1 | SPYAGLAYG | STOMACH | 91 | p.W96L | c.287G>T | Missense_Mutation | 1 | 0.11 | GSU | Y | 1 | 10 | 0 | N |
GATA1 | SSLEGTGAA | SKIN | 319 | p.G322E | c.965G>A | Missense_Mutation | 1 | 0.11 | HS695T | N | 2 | 0 | 0 | Y |
GATA1 | SSTPESEVF | URINARY_TRACT | 25 | p.G31E | c.92G>A | Missense_Mutation | 1 | 0.11 | CAL29 | N | 6 | 0 | 0 | Y |
GATA1 | STPESEVFF | URINARY_TRACT | 26 | p.G31E | c.92G>A | Missense_Mutation | 1 | 0.11 | CAL29 | N | 6 | 0 | 0 | N |
GATA1 | STVCPTCED | SOFT_TISSUE | 107 | p.R113C | c.337C>T | Missense_Mutation | 1 | 0.11 | SKUT1 | N | 0 | 0 | 0 | N |
GATA1 | TCEDSPPQA | SOFT_TISSUE | 112 | p.R113C | c.337C>T | Missense_Mutation | 1 | 0.11 | SKUT1 | N | 1 | 0 | 0 | N |
GATA1 | TGHYLCDAC | LARGE_INTESTINE | 220 | p.N226D | c.676A>G | Missense_Mutation | 1 | 0.11 | CCK81 | N | 1 | 0 | 0 | N |
GATA1 | TGSFLTGPM | LUNG | 391 | p.P395L | c.1184C>T | Missense_Mutation | 1 | 0.11 | CORL23 | N | 6 | 0 | 0 | N |
GATA1 | TPESEVFFP | URINARY_TRACT | 27 | p.G31E | c.92G>A | Missense_Mutation | 1 | 0.11 | CAL29 | N | 0 | 0 | 0 | Y |
GATA1 | TREDSPPQV | BILIARY_TRACT | 112 | p.A120V | c.359C>T | Missense_Mutation | 1 | 0.11 | HUH28 | Y | 3 | 10 | 0 | N |
GATA1 | TRNCKASGK | SKIN | 304 | p.R307C | c.919C>T | Missense_Mutation | 1 | 0.11 | K029AX | Y | 2 | 11 | 0 | N |
GATA1 | TVCPTCEDS | SOFT_TISSUE | 108 | p.R113C | c.337C>T | Missense_Mutation | 1 | 0.11 | SKUT1 | N | 0 | 0 | 0 | N |
GATA1 | TVTPLWRRD | LARGE_INTESTINE | 210 | p.A211V | c.632C>T | Missense_Mutation | 1 | 0.11 | CW2 | N | 0 | 0 | 0 | N |
GATA1 | VCPTCEDSP | SOFT_TISSUE | 109 | p.R113C | c.337C>T | Missense_Mutation | 1 | 0.11 | SKUT1 | N | 0 | 0 | 0 | N |
GATA1 | VFQVYPLPN | KIDNEY | 74 | p.L81P | c.242T>C | Missense_Mutation | 1 | 0.11 | CAL54 | N | 0 | 0 | 1 | Y |
GATA1 | VNCGATVTP | LARGE_INTESTINE | 205 | p.A211V | c.632C>T | Missense_Mutation | 1 | 0.11 | CW2 | N | 0 | 0 | 0 | N |
GATA1 | VSKRARTQC | LUNG | 250 | p.G255R | c.763G>C | Missense_Mutation | 1 | 0.11 | NCIH1944 | N | 1 | 0 | 1 | Y |
GATA1 | VSSTPESEV | URINARY_TRACT | 24 | p.G31E | c.92G>A | Missense_Mutation | 1 | 0.11 | CAL29 | N | 5 | 0 | 0 | Y |
GATA1 | VTPLWRRDR | LARGE_INTESTINE | 211 | p.A211V | c.632C>T | Missense_Mutation | 1 | 0.11 | CW2 | N | 3 | 0 | 10 | N |
GATA1 | VVEDLDGKG | BILIARY_TRACT | 120 | p.A120V | c.359C>T | Missense_Mutation | 1 | 0.11 | HUH28 | N | 1 | 0 | 0 | N |
GATA1 | VYPLPNCME | KIDNEY | 77 | p.L81P | c.242T>C | Missense_Mutation | 1 | 0.11 | CAL54 | N | 0 | 0 | 5 | N |
GATA1 | WGSSLGGTG | CENTRAL_NERVOUS_SYSTEM | 317 | p.R317W | c.949C>T | Missense_Mutation | 1 | 0.11 | SW1783 | N | 2 | 0 | 0 | N |
GATA1 | YAGLAYGKT | STOMACH | 93 | p.W96L | c.287G>T | Missense_Mutation | 1 | 0.11 | GSU | N | 7 | 0 | 0 | N |
GATA1 | YLCDACGLY | LARGE_INTESTINE | 223 | p.N226D | c.676A>G | Missense_Mutation | 1 | 0.11 | CCK81 | N | 8 | 0 | 2 | N |
GATA1 | YPLPNCMEG | KIDNEY | 78 | p.L81P | c.242T>C | Missense_Mutation | 1 | 0.11 | CAL54 | N | 3 | 0 | 0 | N |
GATA1 | YRDAEAYRP | OESOPHAGUS | 63 | p.H71P | c.212A>C | Missense_Mutation | 1 | 0.11 | ECGI10 | N | 3 | 0 | 1 | N |
GATA1 | YRPSPVFQV | OESOPHAGUS | 69 | p.H71P | c.212A>C | Missense_Mutation | 1 | 0.11 | ECGI10 | Y | 10 | 9 | 30 | N |
GATA1 | AEAYRRSPV | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66 | p.H71R | c.212A>G | Missense_Mutation | 1 | 0.22 | MOLM6 | N | 7 | 0 | 0 | N |
GATA1 | AEAYRRSPV | STOMACH | 66 | p.H71R | c.212A>G | Missense_Mutation | 1 | 0.22 | SNU520 | N | 7 | 0 | 0 | N |
GATA1 | AYRRSPVFQ | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68 | p.H71R | c.212A>G | Missense_Mutation | 1 | 0.22 | MOLM6 | Y | 0 | 10 | 0 | N |
GATA1 | AYRRSPVFQ | STOMACH | 68 | p.H71R | c.212A>G | Missense_Mutation | 1 | 0.22 | SNU520 | Y | 0 | 10 | 0 | N |
GATA1 | DAEAYRRSP | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65 | p.H71R | c.212A>G | Missense_Mutation | 1 | 0.22 | MOLM6 | N | 0 | 0 | 0 | N |
GATA1 | DAEAYRRSP | STOMACH | 65 | p.H71R | c.212A>G | Missense_Mutation | 1 | 0.22 | SNU520 | N | 0 | 0 | 0 | N |
GATA1 | EAYRRSPVF | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67 | p.H71R | c.212A>G | Missense_Mutation | 1 | 0.22 | MOLM6 | N | 12 | 0 | 0 | N |
GATA1 | EAYRRSPVF | STOMACH | 67 | p.H71R | c.212A>G | Missense_Mutation | 1 | 0.22 | SNU520 | N | 12 | 0 | 0 | N |
GATA1 | RDAEAYRRS | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 64 | p.H71R | c.212A>G | Missense_Mutation | 1 | 0.22 | MOLM6 | N | 3 | 0 | 0 | N |
GATA1 | RDAEAYRRS | STOMACH | 64 | p.H71R | c.212A>G | Missense_Mutation | 1 | 0.22 | SNU520 | N | 3 | 0 | 0 | N |
GATA1 | RRSPVFQVY | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70 | p.H71R | c.212A>G | Missense_Mutation | 1 | 0.22 | MOLM6 | Y | 4 | 11 | 0 | N |
GATA1 | RRSPVFQVY | STOMACH | 70 | p.H71R | c.212A>G | Missense_Mutation | 1 | 0.22 | SNU520 | Y | 4 | 11 | 0 | N |
GATA1 | RSPVFQVYP | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71 | p.H71R | c.212A>G | Missense_Mutation | 1 | 0.22 | MOLM6 | N | 1 | 0 | 0 | N |
GATA1 | RSPVFQVYP | STOMACH | 71 | p.H71R | c.212A>G | Missense_Mutation | 1 | 0.22 | SNU520 | N | 1 | 0 | 0 | N |
GATA1 | YRDAEAYRR | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63 | p.H71R | c.212A>G | Missense_Mutation | 1 | 0.22 | MOLM6 | Y | 5 | 9 | 3 | N |
GATA1 | YRDAEAYRR | STOMACH | 63 | p.H71R | c.212A>G | Missense_Mutation | 1 | 0.22 | SNU520 | Y | 5 | 9 | 3 | N |
GATA1 | YRRSPVFQV | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69 | p.H71R | c.212A>G | Missense_Mutation | 1 | 0.22 | MOLM6 | Y | 7 | 9 | 39 | N |
GATA1 | YRRSPVFQV | STOMACH | 69 | p.H71R | c.212A>G | Missense_Mutation | 1 | 0.22 | SNU520 | Y | 7 | 9 | 39 | N |