UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.149923557_149923619del | CA2647756180 | SF3B4 | c.1208_1270del (p.Pro403_Pro423del) | gnomAD v4 |
| 1 | g.149923564_149923575del | CA2573893265 | SF3B4 | c.1251_1262del (p.Leu418_Pro421del) | gnomAD v4 |
| 1 | g.149923567_149923587delinsGGGCCTCGAGGGGGAACTGGT | CA2478941119 | SF3B4 | c.1230_1250delinsACCAGTTCCCCCTCGAGGCCC (p.Pro410=) | |
| 1 | g.149923572_149923591del | CA205968 | SF3B4 | c.1230_1249del (p.Pro411ThrfsTer?) | ClinVar dbSNP |
| 1 | g.149923572T>A | CA420670191 | SF3B4 | c.1245A>T (p.Arg415=) | |
| 1 | g.149923572T>C | CA420670193 | SF3B4 | c.1245A>G (p.Arg415=) | |
| 1 | g.149923572T>G | CA420670195 | SF3B4 | c.1245A>C (p.Arg415=) | |
| 1 | g.149923573C>A | CA342273152 | SF3B4 | c.1244G>T (p.Arg415Leu) | |
| 1 | g.149923573C>G | CA342273150 | SF3B4 | c.1244G>C (p.Arg415Pro) | |
| 1 | g.149923573C>T | CA342273147 | SF3B4 | c.1244G>A (p.Arg415Gln) | gnomAD v4 |
| 1 | g.149923574G>A | CA342273154 | SF3B4 | c.1243C>T (p.Arg415Ter) | dbSNP gnomAD v4 COSMIC |
| 1 | g.149923574G>C | CA342273155 | SF3B4 | c.1243C>G (p.Arg415Gly) | gnomAD v4 |
| 1 | g.149923574G= | CA2478941122 | SF3B4 | c.1243C= (p.Arg415=) | |
| 1 | g.149923574G>T | CA420670203 | SF3B4 | c.1243C>A (p.Arg415=) | gnomAD v4 |
| 1 | g.149923575A>C | CA420670206 | SF3B4 | c.1242T>G (p.Pro414=) | |
| 1 | g.149923575A>G | CA420670208 | SF3B4 | c.1242T>C (p.Pro414=) | |
| 1 | g.149923575A>T | CA420670210 | SF3B4 | c.1242T>A (p.Pro414=) | |
| 1 | g.149923576G>A | CA342273158 | SF3B4 | c.1241C>T (p.Pro414Leu) | gnomAD v4 |
| 1 | g.149923576G>C | CA342273159 | SF3B4 | c.1241C>G (p.Pro414Arg) | gnomAD v4 |
| 1 | g.149923576G>T | CA342273162 | SF3B4 | c.1241C>A (p.Pro414His) | gnomAD v4 |
| 1 | g.149923580del | CA2647756181 | SF3B4 | c.1241del (p.Pro414LeufsTer?) | gnomAD v4 |
| 1 | g.149923577G>A | CA342273164 | SF3B4 | c.1240C>T (p.Pro414Ser) | |
| 1 | g.149923577G>C | CA1071347 | SF3B4 | c.1240C>G (p.Pro414Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149923577G= | CA2478941123 | SF3B4 | c.1240C= (p.Pro414=) | |
| 1 | g.149923577G>T | CA342273166 | SF3B4 | c.1240C>A (p.Pro414Thr) | gnomAD v4 |
| 1 | g.149923578G>A | CA420670219 | SF3B4 | c.1239C>T (p.Pro413=) | gnomAD v4 |
| 1 | g.149923578G>C | CA420670221 | SF3B4 | c.1239C>G (p.Pro413=) | |
| 1 | g.149923578G>T | CA420670223 | SF3B4 | c.1239C>A (p.Pro413=) | |
| 1 | g.149923579G>A | CA342273169 | SF3B4 | c.1238C>T (p.Pro413Leu) | |
| 1 | g.149923579G>C | CA342273172 | SF3B4 | c.1238C>G (p.Pro413Arg) | gnomAD v4 |
| 1 | g.149923579G>T | CA342273174 | SF3B4 | c.1238C>A (p.Pro413His) | |
| 1 | g.149923580G>A | CA1071348 | SF3B4 | c.1237C>T (p.Pro413Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149923580G>C | CA342273177 | SF3B4 | c.1237C>G (p.Pro413Ala) | dbSNP |
| 1 | g.149923580G= | CA2478941124 | SF3B4 | c.1237C= (p.Pro413=) | |
| 1 | g.149923580G>T | CA342273179 | SF3B4 | c.1237C>A (p.Pro413Thr) | gnomAD v4 COSMIC |
| 1 | g.149923581A>C | CA420670231 | SF3B4 | c.1236T>G (p.Val412=) | |
| 1 | g.149923581A>G | CA420670233 | SF3B4 | c.1236T>C (p.Val412=) | gnomAD v4 |
| 1 | g.149923581A>T | CA420670235 | SF3B4 | c.1236T>A (p.Val412=) | |
| 1 | g.149923582A= | CA2478941125 | SF3B4 | c.1235T= (p.Val412=) | |
| 1 | g.149923582A>C | CA342273186 | SF3B4 | c.1235T>G (p.Val412Gly) | dbSNP gnomAD v4 |
| 1 | g.149923582A>G | CA342273182 | SF3B4 | c.1235T>C (p.Val412Ala) | gnomAD v4 |
| 1 | g.149923582A>T | CA1071349 | SF3B4 | c.1235T>A (p.Val412Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149923583C>A | CA342273189 | SF3B4 | c.1234G>T (p.Val412Phe) | |
| 1 | g.149923583C>G | CA342273191 | SF3B4 | c.1234G>C (p.Val412Leu) | |
| 1 | g.149923583C>T | CA342273193 | SF3B4 | c.1234G>A (p.Val412Ile) | |
| 1 | g.149923584T>A | CA420670246 | SF3B4 | c.1233A>T (p.Pro411=) | |
| 1 | g.149923584T>C | CA1071350 | SF3B4 | c.1233A>G (p.Pro411=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.149923584T>G | CA420670249 | SF3B4 | c.1233A>C (p.Pro411=) | |
| 1 | g.149923584T= | CA2478941126 | SF3B4 | c.1233A= (p.Pro411=) | |
| 1 | g.149923584_149923585delinsTG | CA2478941127 | SF3B4 | c.1232_1233delinsCA (p.Pro411=) | |
| 1 | g.149923585G>A | CA342273196 | SF3B4 | c.1232C>T (p.Pro411Leu) | |
| 1 | g.149923585G>C | CA342273198 | SF3B4 | c.1232C>G (p.Pro411Arg) | |
| 1 | g.149923585G>T | CA342273203 | SF3B4 | c.1232C>A (p.Pro411Gln) | |
| 1 | g.149923586del | CA204932 | SF3B4 | c.1232del (p.Pro411GlnfsTer?) | ClinVar dbSNP |
| 1 | g.149923586G>A | CA342273207 | SF3B4 | c.1231C>T (p.Pro411Ser) | |
| 1 | g.149923586G>C | CA342273209 | SF3B4 | c.1231C>G (p.Pro411Ala) | dbSNP |
| 1 | g.149923586G= | CA2478941128 | SF3B4 | c.1231C= (p.Pro411=) | |
| 1 | g.149923586G>T | CA342273211 | SF3B4 | c.1231C>A (p.Pro411Thr) | |
| 1 | g.149923587T>A | CA420670262 | SF3B4 | c.1230A>T (p.Pro410=) | |
| 1 | g.149923587T>C | CA420670264 | SF3B4 | c.1230A>G (p.Pro410=) | |
| 1 | g.149923587T>G | CA420670265 | SF3B4 | c.1230A>C (p.Pro410=) | |
| 1 | g.149923588G>A | CA342273217 | SF3B4 | c.1229C>T (p.Pro410Leu) | |
| 1 | g.149923588G>C | CA342273215 | SF3B4 | c.1229C>G (p.Pro410Arg) | |
| 1 | g.149923588G>T | CA342273213 | SF3B4 | c.1229C>A (p.Pro410Gln) | |
| 1 | g.149923589del | CA2586967264 | SF3B4 | c.1229del (p.Pro410HisfsTer?) | |
| 1 | g.149923589G>A | CA342273220 | SF3B4 | c.1228C>T (p.Pro410Ser) | gnomAD v4 |
| 1 | g.149923589G>C | CA342273222 | SF3B4 | c.1228C>G (p.Pro410Ala) | |
| 1 | g.149923589G>T | CA342273225 | SF3B4 | c.1228C>A (p.Pro410Thr) | gnomAD v4 |
| 1 | g.149923590C>A | CA420670274 | SF3B4 | c.1227G>T (p.Arg409=) | |
| 1 | g.149923590C= | CA2478941129 | SF3B4 | c.1227G= (p.Arg409=) | |
| 1 | g.149923590C>G | CA420670276 | SF3B4 | c.1227G>C (p.Arg409=) | dbSNP |
| 1 | g.149923590C>T | CA420670278 | SF3B4 | c.1227G>A (p.Arg409=) | gnomAD v4 COSMIC |
| 1 | g.149923591C>A | CA342273227 | SF3B4 | c.1226G>T (p.Arg409Leu) | gnomAD v4 |
| 1 | g.149923591C>G | CA342273229 | SF3B4 | c.1226G>C (p.Arg409Pro) | |
| 1 | g.149923591C>T | CA342273231 | SF3B4 | c.1226G>A (p.Arg409Gln) | gnomAD v4 |
| 1 | g.149923592G>A | CA1071351 | SF3B4 | c.1225C>T (p.Arg409Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149923592G>C | CA342273233 | SF3B4 | c.1225C>G (p.Arg409Gly) | gnomAD v4 |
| 1 | g.149923592G= | CA2478941130 | SF3B4 | c.1225C= (p.Arg409=) | |
| 1 | g.149923592G>T | CA420670284 | SF3B4 | c.1225C>A (p.Arg409=) | |
| 1 | g.149923595del | CA2647756182 | SF3B4 | c.1225del (p.Arg409GlyfsTer?) | gnomAD v4 |
| 1 | g.149923593G>A | CA420670288 | SF3B4 | c.1224C>T (p.Pro408=) | gnomAD v4 |
| 1 | g.149923593G>C | CA420670292 | SF3B4 | c.1224C>G (p.Pro408=) | |
| 1 | g.149923593G>T | CA420670290 | SF3B4 | c.1224C>A (p.Pro408=) | gnomAD v4 |
| 1 | g.149923594G>A | CA29988631 | SF3B4 | c.1223C>T (p.Pro408Leu) | dbSNP gnomAD v4 |
| 1 | g.149923594G>C | CA342273235 | SF3B4 | c.1223C>G (p.Pro408Arg) | |
| 1 | g.149923594G= | CA1143536861 | SF3B4 | c.1223C= (p.Pro408=) | |
| 1 | g.149923594G>T | CA342273237 | SF3B4 | c.1223C>A (p.Pro408His) | |
| 1 | g.149923595G>A | CA342273239 | SF3B4 | c.1222C>T (p.Pro408Ser) | gnomAD v4 |
| 1 | g.149923595G>C | CA342273241 | SF3B4 | c.1222C>G (p.Pro408Ala) | |
| 1 | g.149923595G>T | CA342273244 | SF3B4 | c.1222C>A (p.Pro408Thr) | gnomAD v4 |
| 1 | g.149923596A>C | CA420670303 | SF3B4 | c.1221T>G (p.Thr407=) | |
| 1 | g.149923596A>G | CA420670305 | SF3B4 | c.1221T>C (p.Thr407=) | |
| 1 | g.149923596A>T | CA420670307 | SF3B4 | c.1221T>A (p.Thr407=) | |
| 1 | g.149923597G>A | CA342273245 | SF3B4 | c.1220C>T (p.Thr407Ile) | gnomAD v4 |
| 1 | g.149923597G>C | CA342273247 | SF3B4 | c.1220C>G (p.Thr407Ser) | |
| 1 | g.149923597G>T | CA342273246 | SF3B4 | c.1220C>A (p.Thr407Asn) | |
| 1 | g.149923598T>A | CA342273248 | SF3B4 | c.1219A>T (p.Thr407Ser) | COSMIC |
| 1 | g.149923598T>C | CA1071352 | SF3B4 | c.1219A>G (p.Thr407Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149923598T>G | CA342273249 | SF3B4 | c.1219A>C (p.Thr407Pro) | gnomAD v3 gnomAD v4 |
| 1 | g.149923598T= | CA2478941131 | SF3B4 | c.1219A= (p.Thr407=) | |
| 1 | g.149923599G>A | CA420670314 | SF3B4 | c.1218C>T (p.Pro406=) | |
| 1 | g.149923599G>C | CA420670316 | SF3B4 | c.1218C>G (p.Pro406=) | |
| 1 | g.149923599G>T | CA420670318 | SF3B4 | c.1218C>A (p.Pro406=) | gnomAD v4 |
| 1 | g.149923600G>A | CA342273252 | SF3B4 | c.1217C>T (p.Pro406Leu) | gnomAD v4 |
| 1 | g.149923600G>C | CA342273254 | SF3B4 | c.1217C>G (p.Pro406Arg) | |
| 1 | g.149923600G>T | CA342273256 | SF3B4 | c.1217C>A (p.Pro406His) | gnomAD v4 |
| 1 | g.149923601G>A | CA1071353 | SF3B4 | c.1216C>T (p.Pro406Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149923601G>C | CA342273259 | SF3B4 | c.1216C>G (p.Pro406Ala) | |
| 1 | g.149923601G= | CA1143938406 | SF3B4 | c.1216C= (p.Pro406=) | |
| 1 | g.149923601G>T | CA342273261 | SF3B4 | c.1216C>A (p.Pro406Thr) | |
| 1 | g.149923602T>A | CA342273263 | SF3B4 | c.1215A>T (p.Arg405Ser) | |
| 1 | g.149923602T>C | CA420670328 | SF3B4 | c.1215A>G (p.Arg405=) | gnomAD v4 |
| 1 | g.149923602T>G | CA342273265 | SF3B4 | c.1215A>C (p.Arg405Ser) | |
| 1 | g.149923603C>A | CA342273270 | SF3B4 | c.1214G>T (p.Arg405Ile) | |
| 1 | g.149923603C>G | CA342273272 | SF3B4 | c.1214G>C (p.Arg405Thr) | |
| 1 | g.149923603C>T | CA342273268 | SF3B4 | c.1214G>A (p.Arg405Lys) | |
| 1 | g.149923604T>A | CA342273275 | SF3B4 | c.1213A>T (p.Arg405Ter) | |
| 1 | g.149923604T>C | CA342273273 | SF3B4 | c.1213A>G (p.Arg405Gly) | |
| 1 | g.149923604T>G | CA420670330 | SF3B4 | c.1213A>C (p.Arg405=) | |
| 1 | g.149923605G>A | CA420670331 | SF3B4 | c.1212C>T (p.Pro404=) | |
| 1 | g.149923605G>C | CA1071354 | SF3B4 | c.1212C>G (p.Pro404=) | dbSNP ExAC gnomAD v4 |
| 1 | g.149923605G= | CA2478941132 | SF3B4 | c.1212C= (p.Pro404=) | |
| 1 | g.149923605G>T | CA420670334 | SF3B4 | c.1212C>A (p.Pro404=) | |
| 1 | g.149923607del | CA2647756184 | SF3B4 | c.1212del (p.Arg405AspfsTer?) | gnomAD v4 |
| 1 | g.149923606G>A | CA29988699 | SF3B4 | c.1211C>T (p.Pro404Leu) | dbSNP |
| 1 | g.149923606G>C | CA342273287 | SF3B4 | c.1211C>G (p.Pro404Arg) | |
| 1 | g.149923606G= | CA2478941133 | SF3B4 | c.1211C= (p.Pro404=) | |
| 1 | g.149923606G>T | CA342273293 | SF3B4 | c.1211C>A (p.Pro404His) | |
| 1 | g.149923607G>A | CA342273296 | SF3B4 | c.1210C>T (p.Pro404Ser) | dbSNP gnomAD v4 |
| 1 | g.149923607G>C | CA342273298 | SF3B4 | c.1210C>G (p.Pro404Ala) | gnomAD v4 |
| 1 | g.149923607G= | CA2478941134 | SF3B4 | c.1210C= (p.Pro404=) | |
| 1 | g.149923607G>T | CA342273299 | SF3B4 | c.1210C>A (p.Pro404Thr) | |
| 1 | g.149923608T>A | CA420670346 | SF3B4 | c.1209A>T (p.Pro403=) | |
| 1 | g.149923608T>C | CA420670347 | SF3B4 | c.1209A>G (p.Pro403=) | |
| 1 | g.149923608T>G | CA420670349 | SF3B4 | c.1209A>C (p.Pro403=) | gnomAD v4 |
| 1 | g.149923609G>A | CA342273300 | SF3B4 | c.1208C>T (p.Pro403Leu) | gnomAD v4 COSMIC |
| 1 | g.149923609G>C | CA342273303 | SF3B4 | c.1208C>G (p.Pro403Arg) | |
| 1 | g.149923609G>T | CA342273305 | SF3B4 | c.1208C>A (p.Pro403Gln) | COSMIC |
| 1 | g.149923610G>A | CA1071355 | SF3B4 | c.1207C>T (p.Pro403Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149923610G>C | CA342273310 | SF3B4 | c.1207C>G (p.Pro403Ala) | |
| 1 | g.149923610G= | CA2478941135 | SF3B4 | c.1207C= (p.Pro403=) | |
| 1 | g.149923610G>T | CA342273311 | SF3B4 | c.1207C>A (p.Pro403Thr) | |
| 1 | g.149923611A>C | CA420670355 | SF3B4 | c.1206T>G (p.Pro402=) | |
| 1 | g.149923611A>G | CA420670357 | SF3B4 | c.1206T>C (p.Pro402=) | gnomAD v4 |
| 1 | g.149923611A>T | CA420670359 | SF3B4 | c.1206T>A (p.Pro402=) | |
| 1 | g.149923612G>A | CA342273314 | SF3B4 | c.1205C>T (p.Pro402Leu) | |
| 1 | g.149923612G>C | CA342273312 | SF3B4 | c.1205C>G (p.Pro402Arg) | |
| 1 | g.149923612G= | CA2478941136 | SF3B4 | c.1205C= (p.Pro402=) | |
| 1 | g.149923612G>T | CA342273313 | SF3B4 | c.1205C>A (p.Pro402His) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149923613G>A | CA342273315 | SF3B4 | c.1204C>T (p.Pro402Ser) | |
| 1 | g.149923613G>C | CA342273316 | SF3B4 | c.1204C>G (p.Pro402Ala) | |
| 1 | g.149923613G>T | CA342273317 | SF3B4 | c.1204C>A (p.Pro402Thr) | |
| 1 | g.149923614G>A | CA420670371 | SF3B4 | c.1203C>T (p.Leu401=) | dbSNP |
| 1 | g.149923614G>C | CA1071356 | SF3B4 | c.1203C>G (p.Leu401=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149923614G= | CA2478941137 | SF3B4 | c.1203C= (p.Leu401=) | |
| 1 | g.149923614G>T | CA420670372 | SF3B4 | c.1203C>A (p.Leu401=) | |
| 1 | g.149923615A= | CA2478941138 | SF3B4 | c.1202T= (p.Leu401=) | |
| 1 | g.149923615A>C | CA342273318 | SF3B4 | c.1202T>G (p.Leu401Arg) | |
| 1 | g.149923615A>G | CA342273319 | SF3B4 | c.1202T>C (p.Leu401Pro) | gnomAD v4 |
| 1 | g.149923615A>T | CA29988710 | SF3B4 | c.1202T>A (p.Leu401His) | dbSNP |
| 1 | g.149923616G>A | CA342273320 | SF3B4 | c.1201C>T (p.Leu401Phe) | |
| 1 | g.149923616G>C | CA342273321 | SF3B4 | c.1201C>G (p.Leu401Val) | |
| 1 | g.149923616G>T | CA342273322 | SF3B4 | c.1201C>A (p.Leu401Ile) | |
| 1 | g.149923617A>C | CA420670382 | SF3B4 | c.1200T>G (p.Pro400=) | |
| 1 | g.149923617A>G | CA420670380 | SF3B4 | c.1200T>C (p.Pro400=) | |
| 1 | g.149923617A>T | CA420670378 | SF3B4 | c.1200T>A (p.Pro400=) | |
| 1 | g.149923617_149923618delinsAG | CA2478941139 | SF3B4 | c.1199_1200delinsCT (p.Pro400=) | |
| 1 | g.149923618G>A | CA342273328 | SF3B4 | c.1199C>T (p.Pro400Leu) | |
| 1 | g.149923618G>C | CA342273330 | SF3B4 | c.1199C>G (p.Pro400Arg) | |
| 1 | g.149923618G>T | CA342273326 | SF3B4 | c.1199C>A (p.Pro400His) | gnomAD v4 |
| 1 | g.149923619del | CA204933 | SF3B4 | c.1199del (p.Pro400LeufsTer?) | ClinVar dbSNP |
| 1 | g.149923619G>A | CA342273331 | SF3B4 | c.1198C>T (p.Pro400Ser) | gnomAD v4 |
| 1 | g.149923619G>C | CA342273332 | SF3B4 | c.1198C>G (p.Pro400Ala) | |
| 1 | g.149923619G>T | CA342273334 | SF3B4 | c.1198C>A (p.Pro400Thr) | gnomAD v4 |
| 1 | g.149923620C>A | CA420670391 | SF3B4 | c.1197G>T (p.Gly399=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149923620C= | CA2478941140 | SF3B4 | c.1197G= (p.Gly399=) | |
| 1 | g.149923620C>G | CA420670394 | SF3B4 | c.1197G>C (p.Gly399=) | gnomAD v4 |
| 1 | g.149923620C>T | CA1071357 | SF3B4 | c.1197G>A (p.Gly399=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149923624dup | CA913071414 | SF3B4 | c.1197dup (p.Pro400AlafsTer?) | |
| 1 | g.149923624del | CA2647756185 | SF3B4 | c.1197del (p.Pro400LeufsTer?) | gnomAD v4 |
| 1 | g.149923621C>A | CA342273338 | SF3B4 | c.1196G>T (p.Gly399Val) | |
| 1 | g.149923621C>G | CA342273340 | SF3B4 | c.1196G>C (p.Gly399Ala) | |
| 1 | g.149923621C>T | CA342273342 | SF3B4 | c.1196G>A (p.Gly399Glu) | |
| 1 | g.149923622C>A | CA342273343 | SF3B4 | c.1195G>T (p.Gly399Trp) | gnomAD v4 |
| 1 | g.149923622C>G | CA342273345 | SF3B4 | c.1195G>C (p.Gly399Arg) | |
| 1 | g.149923622C>T | CA342273346 | SF3B4 | c.1195G>A (p.Gly399Arg) | gnomAD v4 |
| 1 | g.149923623C>A | CA420670409 | SF3B4 | c.1194G>T (p.Arg398=) | gnomAD v4 |
| 1 | g.149923623C>G | CA420670412 | SF3B4 | c.1194G>C (p.Arg398=) | |
| 1 | g.149923623C>T | CA420670415 | SF3B4 | c.1194G>A (p.Arg398=) | |
| 1 | g.149923624C>A | CA342273347 | SF3B4 | c.1193G>T (p.Arg398Leu) | gnomAD v4 |
| 1 | g.149923624C= | CA2478941141 | SF3B4 | c.1193G= (p.Arg398=) | |
| 1 | g.149923624C>G | CA342273348 | SF3B4 | c.1193G>C (p.Arg398Pro) | |
| 1 | g.149923624C>T | CA342273350 | SF3B4 | c.1193G>A (p.Arg398Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149923625G>A | CA342273352 | SF3B4 | c.1192C>T (p.Arg398Trp) | dbSNP gnomAD v4 |
| 1 | g.149923625G>C | CA342273353 | SF3B4 | c.1192C>G (p.Arg398Gly) | |
| 1 | g.149923625G= | CA2478941142 | SF3B4 | c.1192C= (p.Arg398=) | |
| 1 | g.149923625G>T | CA420670421 | SF3B4 | c.1192C>A (p.Arg398=) | |
| 1 | g.149923626C>A | CA342273355 | SF3B4 | c.1191G>T (p.Gln397His) | |
| 1 | g.149923626C= | CA2478941143 | SF3B4 | c.1191G= (p.Gln397=) | |
| 1 | g.149923626C>G | CA342273357 | SF3B4 | c.1191G>C (p.Gln397His) | |
| 1 | g.149923626C>T | CA420670422 | SF3B4 | c.1191G>A (p.Gln397=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149923627T>A | CA342273358 | SF3B4 | c.1190A>T (p.Gln397Leu) | |
| 1 | g.149923627T>C | CA342273360 | SF3B4 | c.1190A>G (p.Gln397Arg) | |
| 1 | g.149923627T>G | CA342273366 | SF3B4 | c.1190A>C (p.Gln397Pro) | |
| 1 | g.149923628G>A | CA342273369 | SF3B4 | c.1189C>T (p.Gln397Ter) | |
| 1 | g.149923628G>C | CA342273371 | SF3B4 | c.1189C>G (p.Gln397Glu) | |
| 1 | g.149923628G>T | CA342273373 | SF3B4 | c.1189C>A (p.Gln397Lys) | gnomAD v4 |
| 1 | g.149923629G>A | CA420670444 | SF3B4 | c.1188C>T (p.Tyr396=) | |
| 1 | g.149923629G>C | CA342273374 | SF3B4 | c.1188C>G (p.Tyr396Ter) | |
| 1 | g.149923629G>T | CA342273384 | SF3B4 | c.1188C>A (p.Tyr396Ter) | |
| 1 | g.149923630T>A | CA342273386 | SF3B4 | c.1187A>T (p.Tyr396Phe) | |
| 1 | g.149923630T>C | CA342273388 | SF3B4 | c.1187A>G (p.Tyr396Cys) | |
| 1 | g.149923630T>G | CA342273389 | SF3B4 | c.1187A>C (p.Tyr396Ser) | dbSNP |
| 1 | g.149923630T= | CA2478941144 | SF3B4 | c.1187A= (p.Tyr396=) | |
| 1 | g.149923631A>C | CA342273395 | SF3B4 | c.1186T>G (p.Tyr396Asp) | |
| 1 | g.149923631A>G | CA342273396 | SF3B4 | c.1186T>C (p.Tyr396His) | |
| 1 | g.149923631A>T | CA342273392 | SF3B4 | c.1186T>A (p.Tyr396Asn) | |
| 1 | g.149923632G>A | CA420670460 | SF3B4 | c.1185C>T (p.Gly395=) | |
| 1 | g.149923632G>C | CA420670462 | SF3B4 | c.1185C>G (p.Gly395=) | |
| 1 | g.149923632G>T | CA420670461 | SF3B4 | c.1185C>A (p.Gly395=) | |
| 1 | g.149923632_149923641delinsGCCATAGGGT | CA2478941145 | SF3B4 | c.1176_1185delinsACCCTATGGC (p.Pro392=) | |
| 1 | g.149923633C>A | CA342273398 | SF3B4 | c.1184G>T (p.Gly395Val) | |
| 1 | g.149923633C>G | CA342273400 | SF3B4 | c.1184G>C (p.Gly395Ala) | |
| 1 | g.149923633C>T | CA342273401 | SF3B4 | c.1184G>A (p.Gly395Asp) | |
| 1 | g.149923633_149923634del | CA1007570366 | SF3B4 | c.1183_1184del (p.Gly395LeufsTer?) | gnomAD v3 gnomAD v4 |
| 1 | g.149923633_149923641del | CA2478941146 | SF3B4 | c.1176_1184del (p.Pro393_Gly395del) | dbSNP |
| 1 | g.149923634C>A | CA342273404 | SF3B4 | c.1183G>T (p.Gly395Cys) | |
| 1 | g.149923634C>G | CA342273411 | SF3B4 | c.1183G>C (p.Gly395Arg) | |
| 1 | g.149923634C>T | CA342273412 | SF3B4 | c.1183G>A (p.Gly395Ser) | |
| 1 | g.149923635A>C | CA342273416 | SF3B4 | c.1182T>G (p.Tyr394Ter) | |
| 1 | g.149923635A>G | CA420670465 | SF3B4 | c.1182T>C (p.Tyr394=) | |
| 1 | g.149923635A>T | CA342273414 | SF3B4 | c.1182T>A (p.Tyr394Ter) | |
| 1 | g.149923635_149923642delinsATAGGGTG | CA2478941147 | SF3B4 | c.1175_1182delinsCACCCTAT (p.Pro392=) | |
| 1 | g.149923636T>A | CA342273417 | SF3B4 | c.1181A>T (p.Tyr394Phe) | |
| 1 | g.149923636T>C | CA342273419 | SF3B4 | c.1181A>G (p.Tyr394Cys) | |
| 1 | g.149923636T>G | CA342273422 | SF3B4 | c.1181A>C (p.Tyr394Ser) | |
| 1 | g.149923636_149923642del | CA1007570387 | SF3B4 | c.1175_1181del (p.Pro392LeufsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149923637A>C | CA342273424 | SF3B4 | c.1180T>G (p.Tyr394Asp) | |
| 1 | g.149923637A>G | CA342273426 | SF3B4 | c.1180T>C (p.Tyr394His) | gnomAD v4 |
| 1 | g.149923637A>T | CA342273428 | SF3B4 | c.1180T>A (p.Tyr394Asn) | |
| 1 | g.149923638G>A | CA420670471 | SF3B4 | c.1179C>T (p.Pro393=) | |
| 1 | g.149923638G>C | CA420670472 | SF3B4 | c.1179C>G (p.Pro393=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149923638G= | CA2478941148 | SF3B4 | c.1179C= (p.Pro393=) | |
| 1 | g.149923638G>T | CA420670474 | SF3B4 | c.1179C>A (p.Pro393=) | gnomAD v4 |
| 1 | g.149923639G>A | CA1071358 | SF3B4 | c.1178C>T (p.Pro393Leu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.149923639G>C | CA342273432 | SF3B4 | c.1178C>G (p.Pro393Arg) | |
| 1 | g.149923639G= | CA2478941149 | SF3B4 | c.1178C= (p.Pro393=) | |
| 1 | g.149923639G>T | CA342273434 | SF3B4 | c.1178C>A (p.Pro393His) | |
| 1 | g.149923640G>A | CA342273435 | SF3B4 | c.1177C>T (p.Pro393Ser) | |
| 1 | g.149923640G>C | CA342273436 | SF3B4 | c.1177C>G (p.Pro393Ala) | |
| 1 | g.149923640G= | CA2478941150 | SF3B4 | c.1177C= (p.Pro393=) | |
| 1 | g.149923640G>T | CA1071359 | SF3B4 | c.1177C>A (p.Pro393Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149923641T>A | CA420670481 | SF3B4 | c.1176A>T (p.Pro392=) | |
| 1 | g.149923641T>C | CA420670480 | SF3B4 | c.1176A>G (p.Pro392=) | |
| 1 | g.149923641T>G | CA420670479 | SF3B4 | c.1176A>C (p.Pro392=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149923641T= | CA2478941151 | SF3B4 | c.1176A= (p.Pro392=) | |
| 1 | g.149923642G>A | CA342273439 | SF3B4 | c.1175C>T (p.Pro392Leu) | dbSNP |
| 1 | g.149923642G>C | CA342273441 | SF3B4 | c.1175C>G (p.Pro392Arg) | |
| 1 | g.149923642G= | CA2478941152 | SF3B4 | c.1175C= (p.Pro392=) | |
| 1 | g.149923642G>T | CA342273443 | SF3B4 | c.1175C>A (p.Pro392Gln) | gnomAD v4 |
| 1 | g.149923646del | CA2647756186 | SF3B4 | c.1175del (p.Pro392HisfsTer?) | gnomAD v4 |
| 1 | g.149923643G>A | CA342273451 | SF3B4 | c.1174C>T (p.Pro392Ser) | |
| 1 | g.149923643G>C | CA342273453 | SF3B4 | c.1174C>G (p.Pro392Ala) | |
| 1 | g.149923643G>T | CA342273456 | SF3B4 | c.1174C>A (p.Pro392Thr) | |
| 1 | g.149923644G>A | CA1071360 | SF3B4 | c.1173C>T (p.Pro391=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149923644G>C | CA420670498 | SF3B4 | c.1173C>G (p.Pro391=) | |
| 1 | g.149923644G= | CA1148127215 | SF3B4 | c.1173C= (p.Pro391=) | |
| 1 | g.149923644G>T | CA420670499 | SF3B4 | c.1173C>A (p.Pro391=) | gnomAD v4 |
| 1 | g.149923645G>A | CA342273461 | SF3B4 | c.1172C>T (p.Pro391Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149923645G>C | CA342273464 | SF3B4 | c.1172C>G (p.Pro391Arg) | |
| 1 | g.149923645G= | CA2478941153 | SF3B4 | c.1172C= (p.Pro391=) | |
| 1 | g.149923645G>T | CA342273466 | SF3B4 | c.1172C>A (p.Pro391His) | |
| 1 | g.149923645_149923647del | CA2647756187 | SF3B4 | c.1170_1172del (p.Pro391del) | gnomAD v4 |
| 1 | g.149923646G>A | CA342273470 | SF3B4 | c.1171C>T (p.Pro391Ser) | |
| 1 | g.149923646G>C | CA342273474 | SF3B4 | c.1171C>G (p.Pro391Ala) | |
| 1 | g.149923646G>T | CA342273471 | SF3B4 | c.1171C>A (p.Pro391Thr) | gnomAD v4 |
| 1 | g.149923647T>A | CA420670502 | SF3B4 | c.1170A>T (p.Arg390=) | |
| 1 | g.149923647T>C | CA420670503 | SF3B4 | c.1170A>G (p.Arg390=) | |
| 1 | g.149923647T>G | CA420670507 | SF3B4 | c.1170A>C (p.Arg390=) | dbSNP |
| 1 | g.149923647T= | CA2478941154 | SF3B4 | c.1170A= (p.Arg390=) | |
| 1 | g.149923648C>A | CA342273478 | SF3B4 | c.1169G>T (p.Arg390Leu) | COSMIC |
| 1 | g.149923648C>G | CA342273480 | SF3B4 | c.1169G>C (p.Arg390Pro) | |
| 1 | g.149923648C>T | CA342273492 | SF3B4 | c.1169G>A (p.Arg390Gln) | gnomAD v4 |
| 1 | g.149923649G>A | CA342273499 | SF3B4 | c.1168C>T (p.Arg390Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.149923649G>C | CA342273502 | SF3B4 | c.1168C>G (p.Arg390Gly) | |
| 1 | g.149923649G>T | CA420670521 | SF3B4 | c.1168C>A (p.Arg390=) | |
| 1 | g.149923650T>A | CA420670526 | SF3B4 | c.1167A>T (p.Pro389=) | |
| 1 | g.149923650T>C | CA420670529 | SF3B4 | c.1167A>G (p.Pro389=) | |
| 1 | g.149923650T>G | CA420670531 | SF3B4 | c.1167A>C (p.Pro389=) | |
| 1 | g.149923651G>A | CA342273512 | SF3B4 | c.1166C>T (p.Pro389Leu) | |
| 1 | g.149923651G>C | CA342273508 | SF3B4 | c.1166C>G (p.Pro389Arg) | |
| 1 | g.149923651G>T | CA342273505 | SF3B4 | c.1166C>A (p.Pro389Gln) | |
| 1 | g.149923652G>A | CA342273514 | SF3B4 | c.1165C>T (p.Pro389Ser) | gnomAD v4 |
| 1 | g.149923652G>C | CA342273515 | SF3B4 | c.1165C>G (p.Pro389Ala) | |
| 1 | g.149923652G>T | CA342273517 | SF3B4 | c.1165C>A (p.Pro389Thr) | |
| 1 | g.149923653A>C | CA420670538 | SF3B4 | c.1164T>G (p.Pro388=) | |
| 1 | g.149923653A>G | CA420670540 | SF3B4 | c.1164T>C (p.Pro388=) | gnomAD v4 |
| 1 | g.149923653A>T | CA420670549 | SF3B4 | c.1164T>A (p.Pro388=) | |
| 1 | g.149923653_149923654delinsAG | CA2478941155 | SF3B4 | c.1163_1164delinsCT (p.Pro388=) | |
| 1 | g.149923654G>A | CA1071361 | SF3B4 | c.1163C>T (p.Pro388Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149923654G>C | CA342273539 | SF3B4 | c.1163C>G (p.Pro388Arg) | |
| 1 | g.149923654G= | CA2478941156 | SF3B4 | c.1163C= (p.Pro388=) | |
| 1 | g.149923654G>T | CA342273542 | SF3B4 | c.1163C>A (p.Pro388His) | |
| 1 | g.149923656del | CA1139656300 | SF3B4 | c.1163del (p.Pro388LeufsTer?) | ClinVar dbSNP |
| 1 | g.149923655G>A | CA342273545 | SF3B4 | c.1162C>T (p.Pro388Ser) | |
| 1 | g.149923655G>C | CA342273548 | SF3B4 | c.1162C>G (p.Pro388Ala) | |
| 1 | g.149923655G>T | CA342273547 | SF3B4 | c.1162C>A (p.Pro388Thr) | |
| 1 | g.149923656G>A | CA420670561 | SF3B4 | c.1161C>T (p.Gly387=) | |
| 1 | g.149923656G>C | CA420670558 | SF3B4 | c.1161C>G (p.Gly387=) | |
| 1 | g.149923656G>T | CA420670556 | SF3B4 | c.1161C>A (p.Gly387=) | |
| 1 | g.149923657C>A | CA342273549 | SF3B4 | c.1160G>T (p.Gly387Val) | gnomAD v4 |
| 1 | g.149923657C= | CA2478941157 | SF3B4 | c.1160G= (p.Gly387=) | |
| 1 | g.149923657C>G | CA342273551 | SF3B4 | c.1160G>C (p.Gly387Ala) | |
| 1 | g.149923657C>T | CA342273554 | SF3B4 | c.1160G>A (p.Gly387Asp) | |
| 1 | g.149923658C>A | CA342273556 | SF3B4 | c.1159G>T (p.Gly387Cys) | |
| 1 | g.149923658C>G | CA342273558 | SF3B4 | c.1159G>C (p.Gly387Arg) | |
| 1 | g.149923658C>T | CA342273561 | SF3B4 | c.1159G>A (p.Gly387Ser) | |
| 1 | g.149923658_149923664dup | CA16616968 | SF3B4 | c.1153_1159dup (p.Gly387ValfsTer?) | ClinVar dbSNP |
| 1 | g.149923659A>C | CA420670572 | SF3B4 | c.1158T>G (p.Thr386=) | |
| 1 | g.149923659A>G | CA420670573 | SF3B4 | c.1158T>C (p.Thr386=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149923659A>T | CA420670574 | SF3B4 | c.1158T>A (p.Thr386=) | |
| 1 | g.149923660G>A | CA342273564 | SF3B4 | c.1157C>T (p.Thr386Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149923660G>C | CA342273576 | SF3B4 | c.1157C>G (p.Thr386Ser) | |
| 1 | g.149923660G= | CA2478941158 | SF3B4 | c.1157C= (p.Thr386=) | |
| 1 | g.149923660G>T | CA342273577 | SF3B4 | c.1157C>A (p.Thr386Asn) | |
| 1 | g.149923661T>A | CA342273578 | SF3B4 | c.1156A>T (p.Thr386Ser) | gnomAD v4 |
| 1 | g.149923661T>C | CA342273589 | SF3B4 | c.1156A>G (p.Thr386Ala) | |
| 1 | g.149923661T>G | CA342273591 | SF3B4 | c.1156A>C (p.Thr386Pro) | |
| 1 | g.149923662G>A | CA420670584 | SF3B4 | c.1155C>T (p.Tyr385=) | gnomAD v4 COSMIC |
| 1 | g.149923662G>C | CA342273595 | SF3B4 | c.1155C>G (p.Tyr385Ter) | |
| 1 | g.149923662G>T | CA342273599 | SF3B4 | c.1155C>A (p.Tyr385Ter) | COSMIC |
| 1 | g.149923663T>A | CA342273602 | SF3B4 | c.1154A>T (p.Tyr385Phe) | |
| 1 | g.149923663T>C | CA342273606 | SF3B4 | c.1154A>G (p.Tyr385Cys) | |
| 1 | g.149923663T>G | CA342273604 | SF3B4 | c.1154A>C (p.Tyr385Ser) | |
| 1 | g.149923664A>C | CA342273610 | SF3B4 | c.1153T>G (p.Tyr385Asp) | |
| 1 | g.149923664A>G | CA342273618 | SF3B4 | c.1153T>C (p.Tyr385His) | |
| 1 | g.149923664A>T | CA342273620 | SF3B4 | c.1153T>A (p.Tyr385Asn) | |
| 1 | g.149923665T>A | CA420670591 | SF3B4 | c.1152A>T (p.Gly384=) | |
| 1 | g.149923665T>C | CA420670592 | SF3B4 | c.1152A>G (p.Gly384=) | gnomAD v4 |
| 1 | g.149923665T>G | CA420670593 | SF3B4 | c.1152A>C (p.Gly384=) | |
| 1 | g.149923666C>A | CA342273623 | SF3B4 | c.1151G>T (p.Gly384Val) | |
| 1 | g.149923666C>G | CA342273626 | SF3B4 | c.1151G>C (p.Gly384Ala) | |
| 1 | g.149923666C>T | CA342273628 | SF3B4 | c.1151G>A (p.Gly384Glu) | |
| 1 | g.149923667C>A | CA342273631 | SF3B4 | c.1150G>T (p.Gly384Ter) | |
| 1 | g.149923667C>G | CA342273634 | SF3B4 | c.1150G>C (p.Gly384Arg) | COSMIC |
| 1 | g.149923667C>T | CA342273635 | SF3B4 | c.1150G>A (p.Gly384Arg) | |
| 1 | g.149923668A= | CA2478941159 | SF3B4 | c.1149T= (p.His383=) | |
| 1 | g.149923668A>C | CA342273636 | SF3B4 | c.1149T>G (p.His383Gln) | |
| 1 | g.149923668A>G | CA1071362 | SF3B4 | c.1149T>C (p.His383=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149923668A>T | CA342273638 | SF3B4 | c.1149T>A (p.His383Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149923669T>A | CA342273644 | SF3B4 | c.1148A>T (p.His383Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149923669T>C | CA342273642 | SF3B4 | c.1148A>G (p.His383Arg) | gnomAD v4 |
| 1 | g.149923669T>G | CA342273641 | SF3B4 | c.1148A>C (p.His383Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149923669T= | CA2478941161 | SF3B4 | c.1148A= (p.His383=) | |
| 1 | g.149923669dup | CA204934 | SF3B4 | c.1148dup (p.His383GlnfsTer?) | ClinVar dbSNP |
| 1 | g.149923669_149923670delinsTG | CA2478941160 | SF3B4 | c.1147_1148delinsCA (p.His383=) | |
| 1 | g.149923670G>A | CA342273650 | SF3B4 | c.1147C>T (p.His383Tyr) | |
| 1 | g.149923670G>C | CA1071363 | SF3B4 | c.1147C>G (p.His383Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149923670G= | CA2478941162 | SF3B4 | c.1147C= (p.His383=) | |
| 1 | g.149923670G>T | CA342273652 | SF3B4 | c.1147C>A (p.His383Asn) | dbSNP gnomAD v4 |
| 1 | g.149923670_149923676delinsGGGGGGG | CA1144228965 | SF3B4 | c.1141_1147delinsCCCCCCC (p.Pro381=) | |
| 1 | g.149923676dup | CA129874 | SF3B4 | c.1147dup (p.His383ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.149923675_149923676dup | CA2746057862 | SF3B4 | c.1146_1147dup (p.His383ProfsTer?) | |
| 1 | g.149923674_149923676dup | CA2647756201 | SF3B4 | c.1145_1147dup (p.Pro382_His383insPro) | gnomAD v4 |
| 1 | g.149923676del | CA129875 | SF3B4 | c.1147del (p.His383MetfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.149923670_149923671insC | CA420670617 | SF3B4 | c.1146_1147insG (p.His383AlafsTer?) | |
| 1 | g.149923671G>A | CA420670620 | SF3B4 | c.1146C>T (p.Pro382=) | gnomAD v3 gnomAD v4 |
| 1 | g.149923671G>C | CA420670621 | SF3B4 | c.1146C>G (p.Pro382=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149923671G= | CA2478941163 | SF3B4 | c.1146C= (p.Pro382=) | |
| 1 | g.149923671G>T | CA420670619 | SF3B4 | c.1146C>A (p.Pro382=) | gnomAD v4 |
| 1 | g.149923672G>A | CA342273655 | SF3B4 | c.1145C>T (p.Pro382Leu) | dbSNP gnomAD v4 |
| 1 | g.149923672G>C | CA1071365 | SF3B4 | c.1145C>G (p.Pro382Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149923672G= | CA2478941164 | SF3B4 | c.1145C= (p.Pro382=) | |
| 1 | g.149923672G>T | CA1071364 | SF3B4 | c.1145C>A (p.Pro382His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |