Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.110644380_110644496del | CA2789481614 | RBM20 | c.-75_42del c.26+940_26+1056del (n.26+940_26+1056del) | |
10 | g.110644432_110644453dup | CA659845353 | RBM20 | c.-23_-2dup (n.-23_-2dup) c.26+992_26+1013dup (n.26+992_26+1013dup) | dbSNP gnomAD v4 |
10 | g.110644452del | CA2589099373 | RBM20 | c.-3del (n.-3del) c.26+1012del (n.26+1012del) | gnomAD v3 gnomAD v4 |
10 | g.110644452C>A | CA2610890280 | RBM20 | c.-3C>A (n.-3C>A) c.26+1012C>A (n.26+1012C>A) | gnomAD v4 |
10 | g.110644452C>G | CA2610890282 | RBM20 | c.-3C>G (n.-3C>G) c.26+1012C>G (n.26+1012C>G) | gnomAD v4 |
10 | g.110644452C>T | CA2610890281 | RBM20 | c.-3C>T (n.-3C>T) c.26+1012C>T (n.26+1012C>T) | gnomAD v4 |
10 | g.110644453G>A | CA2610890283 | RBM20 | c.-2G>A (n.-2G>A) c.26+1013G>A (n.26+1013G>A) | gnomAD v4 |
10 | g.110644453G>C | CA659845415 | RBM20 | c.-2G>C (n.-2G>C) c.26+1013G>C (n.26+1013G>C) | dbSNP |
10 | g.110644453G>T | CA2580081240 | RBM20 | c.-2G>T (n.-2G>T) c.26+1013G>T (n.26+1013G>T) | ClinVar dbSNP gnomAD v4 |
10 | g.110644454C>A | CA2610890284 | RBM20 | c.-1C>A (n.-1C>A) c.26+1014C>A (n.26+1014C>A) | gnomAD v4 |
10 | g.110644454C>T | CA5688483 | RBM20 | c.-1C>T (n.-1C>T) c.26+1014C>T (n.26+1014C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644455A>C | CA378527209 | RBM20 | c.1A>C (p.Met1Leu) c.26+1015A>C (n.26+1015A>C) | |
10 | g.110644455A>G | CA378527211 | RBM20 | c.1A>G (p.Met1Val) c.26+1015A>G (n.26+1015A>G) | dbSNP gnomAD v4 |
10 | g.110644455A>T | CA378527213 | RBM20 | c.1A>T (p.Met1Leu) c.26+1015A>T (n.26+1015A>T) | |
10 | g.110644456T>A | CA378527216 | RBM20 | c.2T>A (p.Met1Lys) c.26+1016T>A (n.26+1016T>A) | |
10 | g.110644456T>C | CA378527221 | RBM20 | c.2T>C (p.Met1Thr) c.26+1016T>C (n.26+1016T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110644456T>G | CA378527218 | RBM20 | c.2T>G (p.Met1Arg) c.26+1016T>G (n.26+1016T>G) | |
10 | g.110644457G>A | CA378527223 | RBM20 | c.3G>A (p.Met1Ile) c.26+1017G>A (n.26+1017G>A) | gnomAD v4 |
10 | g.110644457G>C | CA378527225 | RBM20 | c.3G>C (p.Met1Ile) c.26+1017G>C (n.26+1017G>C) | |
10 | g.110644457G>T | CA378527227 | RBM20 | c.3G>T (p.Met1Ile) c.26+1017G>T (n.26+1017G>T) | gnomAD v4 |
10 | g.110644458G>A | CA378527229 | RBM20 | c.4G>A (p.Val2Met) c.26+1018G>A (n.26+1018G>A) | gnomAD v4 |
10 | g.110644458G>C | CA378527231 | RBM20 | c.4G>C (p.Val2Leu) c.26+1018G>C (n.26+1018G>C) | gnomAD v4 |
10 | g.110644458G>T | CA378527233 | RBM20 | c.4G>T (p.Val2Leu) c.26+1018G>T (n.26+1018G>T) | ClinVar dbSNP gnomAD v4 |
10 | g.110644458_110644459insC | CA2574675165 | RBM20 | c.4_5insC (p.Val2AlafsTer?) c.26+1018_26+1019insC (n.26+1018_26+1019insC) | |
10 | g.110644459T>A | CA378527235 | RBM20 | c.5T>A (p.Val2Glu) c.26+1019T>A (n.26+1019T>A) | |
10 | g.110644459T>C | CA213903184 | RBM20 | c.5T>C (p.Val2Ala) c.26+1019T>C (n.26+1019T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644459T>G | CA378527238 | RBM20 | c.5T>G (p.Val2Gly) c.26+1019T>G (n.26+1019T>G) | |
10 | g.110644460G>A | CA471464146 | RBM20 | c.6G>A (p.Val2=) c.26+1020G>A (n.26+1020G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110644460G>C | CA471464147 | RBM20 | c.6G>C (p.Val2=) c.26+1020G>C (n.26+1020G>C) | |
10 | g.110644460G>T | CA471464148 | RBM20 | c.6G>T (p.Val2=) c.26+1020G>T (n.26+1020G>T) | gnomAD v4 |
10 | g.110644461C>A | CA378527240 | RBM20 | c.7C>A (p.Leu3Met) c.26+1021C>A (n.26+1021C>A) | gnomAD v4 |
10 | g.110644461C>G | CA378527241 | RBM20 | c.7C>G (p.Leu3Val) c.26+1021C>G (n.26+1021C>G) | gnomAD v4 |
10 | g.110644461C>T | CA16612832 | RBM20 | c.7C>T (p.Leu3=) c.26+1021C>T (n.26+1021C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644462T>A | CA378527245 | RBM20 | c.8T>A (p.Leu3Gln) c.26+1022T>A (n.26+1022T>A) | |
10 | g.110644462T>C | CA378527247 | RBM20 | c.8T>C (p.Leu3Pro) c.26+1022T>C (n.26+1022T>C) | gnomAD v4 |
10 | g.110644462T>G | CA378527243 | RBM20 | c.8T>G (p.Leu3Arg) c.26+1022T>G (n.26+1022T>G) | |
10 | g.110644463G>A | CA471464149 | RBM20 | c.9G>A (p.Leu3=) c.26+1023G>A (n.26+1023G>A) | dbSNP gnomAD v4 |
10 | g.110644463G>C | CA471464150 | RBM20 | c.9G>C (p.Leu3=) c.26+1023G>C (n.26+1023G>C) | |
10 | g.110644463G>T | CA471464151 | RBM20 | c.9G>T (p.Leu3=) c.26+1023G>T (n.26+1023G>T) | gnomAD v4 |
10 | g.110644464G>A | CA378527250 | RBM20 | c.10G>A (p.Ala4Thr) c.26+1024G>A (n.26+1024G>A) | gnomAD v4 |
10 | g.110644464G>C | CA378527248 | RBM20 | c.10G>C (p.Ala4Pro) c.26+1024G>C (n.26+1024G>C) | |
10 | g.110644464G>T | CA378527252 | RBM20 | c.10G>T (p.Ala4Ser) c.26+1024G>T (n.26+1024G>T) | gnomAD v4 |
10 | g.110644465C>A | CA378527253 | RBM20 | c.11C>A (p.Ala4Glu) c.26+1025C>A (n.26+1025C>A) | gnomAD v4 |
10 | g.110644465C>G | CA378527255 | RBM20 | c.11C>G (p.Ala4Gly) c.26+1025C>G (n.26+1025C>G) | |
10 | g.110644465C>T | CA378527257 | RBM20 | c.11C>T (p.Ala4Val) c.26+1025C>T (n.26+1025C>T) | gnomAD v4 |
10 | g.110644466A>C | CA471464152 | RBM20 | c.12A>C (p.Ala4=) c.26+1026A>C (n.26+1026A>C) | |
10 | g.110644466A>G | CA471464153 | RBM20 | c.12A>G (p.Ala4=) c.26+1026A>G (n.26+1026A>G) | dbSNP gnomAD v4 |
10 | g.110644466A>T | CA471464154 | RBM20 | c.12A>T (p.Ala4=) c.26+1026A>T (n.26+1026A>T) | |
10 | g.110644467G>A | CA378527259 | RBM20 | c.13G>A (p.Ala5Thr) c.26+1027G>A (n.26+1027G>A) | gnomAD v4 |
10 | g.110644467G>C | CA378527260 | RBM20 | c.13G>C (p.Ala5Pro) c.26+1027G>C (n.26+1027G>C) | |
10 | g.110644467G>T | CA378527262 | RBM20 | c.13G>T (p.Ala5Ser) c.26+1027G>T (n.26+1027G>T) | gnomAD v4 |
10 | g.110644468C>A | CA378527264 | RBM20 | c.14C>A (p.Ala5Glu) c.26+1028C>A (n.26+1028C>A) | gnomAD v4 |
10 | g.110644468C>G | CA378527266 | RBM20 | c.14C>G (p.Ala5Gly) c.26+1028C>G (n.26+1028C>G) | |
10 | g.110644468C>T | CA378527267 | RBM20 | c.14C>T (p.Ala5Val) c.26+1028C>T (n.26+1028C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644469A>C | CA471464155 | RBM20 | c.15A>C (p.Ala5=) c.26+1029A>C (n.26+1029A>C) | |
10 | g.110644469A>G | CA471464156 | RBM20 | c.15A>G (p.Ala5=) c.26+1029A>G (n.26+1029A>G) | |
10 | g.110644469A>T | CA471464157 | RBM20 | c.15A>T (p.Ala5=) c.26+1029A>T (n.26+1029A>T) | ClinVar dbSNP gnomAD v4 |
10 | g.110644470del | CA2574675166 | RBM20 | c.16del (p.Ala6ProfsTer2) c.26+1030del (n.26+1030del) | |
10 | g.110644470G>A | CA5688484 | RBM20 | c.16G>A (p.Ala6Thr) c.26+1030G>A (n.26+1030G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644470G>C | CA378527270 | RBM20 | c.16G>C (p.Ala6Pro) c.26+1030G>C (n.26+1030G>C) | |
10 | g.110644470G>T | CA378527272 | RBM20 | c.16G>T (p.Ala6Ser) c.26+1030G>T (n.26+1030G>T) | gnomAD v4 |
10 | g.110644471C>A | CA378527277 | RBM20 | c.17C>A (p.Ala6Asp) c.26+1031C>A (n.26+1031C>A) | gnomAD v4 |
10 | g.110644471C>G | CA378527276 | RBM20 | c.17C>G (p.Ala6Gly) c.26+1031C>G (n.26+1031C>G) | |
10 | g.110644471C>T | CA378527274 | RBM20 | c.17C>T (p.Ala6Val) c.26+1031C>T (n.26+1031C>T) | gnomAD v4 |
10 | g.110644472C>A | CA471464158 | RBM20 | c.18C>A (p.Ala6=) c.26+1032C>A (n.26+1032C>A) | gnomAD v4 |
10 | g.110644472C>G | CA471464159 | RBM20 | c.18C>G (p.Ala6=) c.26+1032C>G (n.26+1032C>G) | |
10 | g.110644472C>T | CA471464160 | RBM20 | c.18C>T (p.Ala6=) c.26+1032C>T (n.26+1032C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110644473A>C | CA378527278 | RBM20 | c.19A>C (p.Met7Leu) c.26+1033A>C (n.26+1033A>C) | |
10 | g.110644473A>G | CA378527280 | RBM20 | c.19A>G (p.Met7Val) c.26+1033A>G (n.26+1033A>G) | ClinVar dbSNP gnomAD v4 |
10 | g.110644473A>T | CA378527283 | RBM20 | c.19A>T (p.Met7Leu) c.26+1033A>T (n.26+1033A>T) | ClinVar dbSNP gnomAD v4 |
10 | g.110644474T>A | CA378527285 | RBM20 | c.20T>A (p.Met7Lys) c.26+1034T>A (n.26+1034T>A) | |
10 | g.110644474T>C | CA378527287 | RBM20 | c.20T>C (p.Met7Thr) c.26+1034T>C (n.26+1034T>C) | ClinVar gnomAD v4 |
10 | g.110644474T>G | CA213903185 | RBM20 | c.20T>G (p.Met7Arg) c.26+1034T>G (n.26+1034T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644475G>A | CA378527289 | RBM20 | c.21G>A (p.Met7Ile) c.26+1035G>A (n.26+1035G>A) | gnomAD v4 |
10 | g.110644475G>C | CA378527290 | RBM20 | c.21G>C (p.Met7Ile) c.26+1035G>C (n.26+1035G>C) | |
10 | g.110644475G>T | CA378527292 | RBM20 | c.21G>T (p.Met7Ile) c.26+1035G>T (n.26+1035G>T) | gnomAD v4 |
10 | g.110644476A>C | CA378527294 | RBM20 | c.22A>C (p.Ser8Arg) c.26+1036A>C (n.26+1036A>C) | |
10 | g.110644476A>G | CA378527296 | RBM20 | c.22A>G (p.Ser8Gly) c.26+1036A>G (n.26+1036A>G) | gnomAD v4 |
10 | g.110644476A>T | CA378527298 | RBM20 | c.22A>T (p.Ser8Cys) c.26+1036A>T (n.26+1036A>T) | |
10 | g.110644477G>A | CA378527304 | RBM20 | c.23G>A (p.Ser8Asn) c.26+1037G>A (n.26+1037G>A) | |
10 | g.110644477G>C | CA378527302 | RBM20 | c.23G>C (p.Ser8Thr) c.26+1037G>C (n.26+1037G>C) | |
10 | g.110644477G>T | CA378527300 | RBM20 | c.23G>T (p.Ser8Ile) c.26+1037G>T (n.26+1037G>T) | gnomAD v4 |
10 | g.110644478C>A | CA378527306 | RBM20 | c.24C>A (p.Ser8Arg) c.26+1038C>A (n.26+1038C>A) | |
10 | g.110644478C>G | CA378527308 | RBM20 | c.24C>G (p.Ser8Arg) c.26+1038C>G (n.26+1038C>G) | gnomAD v4 |
10 | g.110644478C>T | CA471464161 | RBM20 | c.24C>T (p.Ser8=) c.26+1038C>T (n.26+1038C>T) | gnomAD v4 |
10 | g.110644479C>A | CA378527310 | RBM20 | c.25C>A (p.Gln9Lys) c.26+1039C>A (n.26+1039C>A) | gnomAD v4 |
10 | g.110644479C>G | CA378527312 | RBM20 | c.25C>G (p.Gln9Glu) c.26+1039C>G (n.26+1039C>G) | |
10 | g.110644479C>T | CA378527314 | RBM20 | c.25C>T (p.Gln9Ter) c.26+1039C>T (n.26+1039C>T) | ClinVar dbSNP |
10 | g.110644480A>C | CA378527315 | RBM20 | c.26A>C (p.Gln9Pro) c.26+1040A>C (n.26+1040A>C) | |
10 | g.110644480A>G | CA378527316 | RBM20 | c.26A>G (p.Gln9Arg) c.26+1040A>G (n.26+1040A>G) | gnomAD v4 |
10 | g.110644480A>T | CA378527318 | RBM20 | c.26A>T (p.Gln9Leu) c.26+1040A>T (n.26+1040A>T) | |
10 | g.110644481G>A | CA471464162 | RBM20 | c.27G>A (p.Gln9=) c.26+1041G>A (n.26+1041G>A) | gnomAD v4 |
10 | g.110644481G>C | CA378527321 | RBM20 | c.27G>C (p.Gln9His) c.26+1041G>C (n.26+1041G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110644481G>T | CA378527322 | RBM20 | c.27G>T (p.Gln9His) c.26+1041G>T (n.26+1041G>T) | gnomAD v4 |
10 | g.110644482G>A | CA378527324 | RBM20 | c.28G>A (p.Asp10Asn) c.26+1042G>A (n.26+1042G>A) | gnomAD v4 |
10 | g.110644482G>C | CA378527326 | RBM20 | c.28G>C (p.Asp10His) c.26+1042G>C (n.26+1042G>C) | |
10 | g.110644482G>T | CA378527328 | RBM20 | c.28G>T (p.Asp10Tyr) c.26+1042G>T (n.26+1042G>T) | gnomAD v4 |
10 | g.110644483A>C | CA378527334 | RBM20 | c.29A>C (p.Asp10Ala) c.26+1043A>C (n.26+1043A>C) | |
10 | g.110644483A>G | CA378527330 | RBM20 | c.29A>G (p.Asp10Gly) c.26+1043A>G (n.26+1043A>G) | gnomAD v4 |
10 | g.110644483A>T | CA378527332 | RBM20 | c.29A>T (p.Asp10Val) c.26+1043A>T (n.26+1043A>T) | |
10 | g.110644484C>A | CA378527337 | RBM20 | c.30C>A (p.Asp10Glu) c.26+1044C>A (n.26+1044C>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110644484C>G | CA378527338 | RBM20 | c.30C>G (p.Asp10Glu) c.26+1044C>G (n.26+1044C>G) | |
10 | g.110644484C>T | CA471464163 | RBM20 | c.30C>T (p.Asp10=) c.26+1044C>T (n.26+1044C>T) | |
10 | g.110644485G>A | CA378527340 | RBM20 | c.31G>A (p.Ala11Thr) c.26+1045G>A (n.26+1045G>A) | gnomAD v4 |
10 | g.110644485G>C | CA378527342 | RBM20 | c.31G>C (p.Ala11Pro) c.26+1045G>C (n.26+1045G>C) | |
10 | g.110644485G>T | CA378527345 | RBM20 | c.31G>T (p.Ala11Ser) c.26+1045G>T (n.26+1045G>T) | gnomAD v4 |
10 | g.110644486C>A | CA378527346 | RBM20 | c.32C>A (p.Ala11Glu) c.26+1046C>A (n.26+1046C>A) | gnomAD v4 |
10 | g.110644486C>G | CA378527348 | RBM20 | c.32C>G (p.Ala11Gly) c.26+1046C>G (n.26+1046C>G) | dbSNP gnomAD v4 |
10 | g.110644486C>T | CA238690 | RBM20 | c.32C>T (p.Ala11Val) c.26+1046C>T (n.26+1046C>T) | ClinVar dbSNP gnomAD v4 |
10 | g.110644487G>A | CA471464164 | RBM20 | c.33G>A (p.Ala11=) c.26+1047G>A (n.26+1047G>A) | dbSNP gnomAD v4 |
10 | g.110644487G>C | CA471464165 | RBM20 | c.33G>C (p.Ala11=) c.26+1047G>C (n.26+1047G>C) | |
10 | g.110644487G>T | CA471464166 | RBM20 | c.33G>T (p.Ala11=) c.26+1047G>T (n.26+1047G>T) | gnomAD v4 |
10 | g.110644488G>A | CA378527351 | RBM20 | c.34G>A (p.Asp12Asn) c.26+1048G>A (n.26+1048G>A) | |
10 | g.110644488G>C | CA378527353 | RBM20 | c.34G>C (p.Asp12His) c.26+1048G>C (n.26+1048G>C) | |
10 | g.110644488G>T | CA378527355 | RBM20 | c.34G>T (p.Asp12Tyr) c.26+1048G>T (n.26+1048G>T) | gnomAD v4 |
10 | g.110644489A>C | CA378527359 | RBM20 | c.35A>C (p.Asp12Ala) c.26+1049A>C (n.26+1049A>C) | |
10 | g.110644489A>G | CA378527357 | RBM20 | c.35A>G (p.Asp12Gly) c.26+1049A>G (n.26+1049A>G) | gnomAD v4 |
10 | g.110644489A>T | CA213903186 | RBM20 | c.35A>T (p.Asp12Val) c.26+1049A>T (n.26+1049A>T) | ClinVar dbSNP gnomAD v4 |
10 | g.110644490C>A | CA5688485 | RBM20 | c.36C>A (p.Asp12Glu) c.26+1050C>A (n.26+1050C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644490C>G | CA378527362 | RBM20 | c.36C>G (p.Asp12Glu) c.26+1050C>G (n.26+1050C>G) | |
10 | g.110644490C>T | CA471464167 | RBM20 | c.36C>T (p.Asp12=) c.26+1050C>T (n.26+1050C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644493del | CA2610890413 | RBM20 | c.39del (p.Ser14AlafsTer?) c.26+1053del (n.26+1053del) | gnomAD v4 |
10 | g.110644491C>A | CA378527363 | RBM20 | c.37C>A (p.Pro13Thr) c.26+1051C>A (n.26+1051C>A) | |
10 | g.110644491C>G | CA378527364 | RBM20 | c.37C>G (p.Pro13Ala) c.26+1051C>G (n.26+1051C>G) | |
10 | g.110644491C>T | CA378527366 | RBM20 | c.37C>T (p.Pro13Ser) c.26+1051C>T (n.26+1051C>T) | |
10 | g.110644492C>A | CA378527368 | RBM20 | c.38C>A (p.Pro13His) c.26+1052C>A (n.26+1052C>A) | |
10 | g.110644492C>G | CA378527370 | RBM20 | c.38C>G (p.Pro13Arg) c.26+1052C>G (n.26+1052C>G) | |
10 | g.110644492C>T | CA378527371 | RBM20 | c.38C>T (p.Pro13Leu) c.26+1052C>T (n.26+1052C>T) | dbSNP gnomAD v4 |
10 | g.110644493C>A | CA471464168 | RBM20 | c.39C>A (p.Pro13=) c.26+1053C>A (n.26+1053C>A) | gnomAD v4 |
10 | g.110644493C>G | CA471464169 | RBM20 | c.39C>G (p.Pro13=) c.26+1053C>G (n.26+1053C>G) | |
10 | g.110644493C>T | CA471464170 | RBM20 | c.39C>T (p.Pro13=) c.26+1053C>T (n.26+1053C>T) | gnomAD v4 |
10 | g.110644494A>C | CA378527374 | RBM20 | c.40A>C (p.Ser14Arg) c.26+1054A>C (n.26+1054A>C) | |
10 | g.110644494A>G | CA378527375 | RBM20 | c.40A>G (p.Ser14Gly) c.26+1054A>G (n.26+1054A>G) | gnomAD v4 |
10 | g.110644494A>T | CA378527376 | RBM20 | c.40A>T (p.Ser14Cys) c.26+1054A>T (n.26+1054A>T) | |
10 | g.110644495G>A | CA378527380 | RBM20 | c.41G>A (p.Ser14Asn) c.26+1055G>A (n.26+1055G>A) | |
10 | g.110644495G>C | CA378527381 | RBM20 | c.41G>C (p.Ser14Thr) c.26+1055G>C (n.26+1055G>C) | |
10 | g.110644495G>T | CA378527383 | RBM20 | c.41G>T (p.Ser14Ile) c.26+1055G>T (n.26+1055G>T) | gnomAD v4 |
10 | g.110644496C>A | CA378527386 | RBM20 | c.42C>A (p.Ser14Arg) c.26+1056C>A (n.26+1056C>A) | gnomAD v4 |
10 | g.110644496C>G | CA335577 | RBM20 | c.42C>G (p.Ser14Arg) c.26+1056C>G (n.26+1056C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644496C>T | CA471464171 | RBM20 | c.42C>T (p.Ser14=) c.26+1056C>T (n.26+1056C>T) | gnomAD v4 |
10 | g.110644497G>A | CA378527389 | RBM20 | c.43G>A (p.Gly15Ser) c.26+1057G>A (n.26+1057G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110644497G>C | CA5688486 | RBM20 | c.43G>C (p.Gly15Arg) c.26+1057G>C (n.26+1057G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644497G>T | CA378527392 | RBM20 | c.43G>T (p.Gly15Cys) c.26+1057G>T (n.26+1057G>T) | gnomAD v4 |
10 | g.110644498G>A | CA378527394 | RBM20 | c.44G>A (p.Gly15Asp) c.26+1058G>A (n.26+1058G>A) | gnomAD v4 |
10 | g.110644498G>C | CA378527396 | RBM20 | c.44G>C (p.Gly15Ala) c.26+1058G>C (n.26+1058G>C) | |
10 | g.110644498G>T | CA378527398 | RBM20 | c.44G>T (p.Gly15Val) c.26+1058G>T (n.26+1058G>T) | gnomAD v4 |
10 | g.110644499T>A | CA471464172 | RBM20 | c.45T>A (p.Gly15=) c.26+1059T>A (n.26+1059T>A) | |
10 | g.110644499T>C | CA471464174 | RBM20 | c.45T>C (p.Gly15=) c.26+1059T>C (n.26+1059T>C) | |
10 | g.110644499T>G | CA471464173 | RBM20 | c.45T>G (p.Gly15=) c.26+1059T>G (n.26+1059T>G) | |
10 | g.110644500C>A | CA378527399 | RBM20 | c.46C>A (p.Pro16Thr) c.26+1060C>A (n.26+1060C>A) | gnomAD v4 |
10 | g.110644500C>G | CA378527401 | RBM20 | c.46C>G (p.Pro16Ala) c.26+1060C>G (n.26+1060C>G) | |
10 | g.110644500C>T | CA378527403 | RBM20 | c.46C>T (p.Pro16Ser) c.26+1060C>T (n.26+1060C>T) | gnomAD v4 |
10 | g.110644501C>A | CA378527404 | RBM20 | c.47C>A (p.Pro16Gln) c.26+1061C>A (n.26+1061C>A) | gnomAD v4 |
10 | g.110644501C>G | CA378527405 | RBM20 | c.47C>G (p.Pro16Arg) c.26+1061C>G (n.26+1061C>G) | |
10 | g.110644501C>T | CA378527407 | RBM20 | c.47C>T (p.Pro16Leu) c.26+1061C>T (n.26+1061C>T) | gnomAD v4 |
10 | g.110644502G>A | CA471464175 | RBM20 | c.48G>A (p.Pro16=) c.26+1062G>A (n.26+1062G>A) | gnomAD v4 |
10 | g.110644502G>C | CA471464176 | RBM20 | c.48G>C (p.Pro16=) c.26+1062G>C (n.26+1062G>C) | ClinVar dbSNP gnomAD v4 |
10 | g.110644502G>T | CA471464177 | RBM20 | c.48G>T (p.Pro16=) c.26+1062G>T (n.26+1062G>T) | gnomAD v4 |
10 | g.110644503G>A | CA378527411 | RBM20 | c.49G>A (p.Glu17Lys) c.26+1063G>A (n.26+1063G>A) | |
10 | g.110644503G>C | CA378527412 | RBM20 | c.49G>C (p.Glu17Gln) c.26+1063G>C (n.26+1063G>C) | |
10 | g.110644503G>T | CA378527409 | RBM20 | c.49G>T (p.Glu17Ter) c.26+1063G>T (n.26+1063G>T) | gnomAD v4 |
10 | g.110644504A>C | CA378527414 | RBM20 | c.50A>C (p.Glu17Ala) c.26+1064A>C (n.26+1064A>C) | |
10 | g.110644504A>G | CA378527416 | RBM20 | c.50A>G (p.Glu17Gly) c.26+1064A>G (n.26+1064A>G) | |
10 | g.110644504A>T | CA378527418 | RBM20 | c.50A>T (p.Glu17Val) c.26+1064A>T (n.26+1064A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644505G>A | CA471464183 | RBM20 | c.51G>A (p.Glu17=) c.26+1065G>A (n.26+1065G>A) | gnomAD v4 |
10 | g.110644505G>C | CA378527420 | RBM20 | c.51G>C (p.Glu17Asp) c.26+1065G>C (n.26+1065G>C) | |
10 | g.110644505G>T | CA378527422 | RBM20 | c.51G>T (p.Glu17Asp) c.26+1065G>T (n.26+1065G>T) | gnomAD v4 |
10 | g.110644506C>A | CA213903187 | RBM20 | c.52C>A (p.Gln18Lys) c.26+1066C>A (n.26+1066C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110644506C>G | CA378527425 | RBM20 | c.52C>G (p.Gln18Glu) c.26+1066C>G (n.26+1066C>G) | gnomAD v4 |
10 | g.110644506C>T | CA378527427 | RBM20 | c.52C>T (p.Gln18Ter) c.26+1066C>T (n.26+1066C>T) | gnomAD v4 |
10 | g.110644507A>C | CA378527429 | RBM20 | c.53A>C (p.Gln18Pro) c.26+1067A>C (n.26+1067A>C) | |
10 | g.110644507A>G | CA378527431 | RBM20 | c.53A>G (p.Gln18Arg) c.26+1067A>G (n.26+1067A>G) | gnomAD v4 |
10 | g.110644507A>T | CA378527433 | RBM20 | c.53A>T (p.Gln18Leu) c.26+1067A>T (n.26+1067A>T) | dbSNP gnomAD v4 |
10 | g.110644508G>A | CA471464184 | RBM20 | c.54G>A (p.Gln18=) c.26+1068G>A (n.26+1068G>A) | gnomAD v4 |
10 | g.110644508G>C | CA378527436 | RBM20 | c.54G>C (p.Gln18His) c.26+1068G>C (n.26+1068G>C) | |
10 | g.110644508G>T | CA378527437 | RBM20 | c.54G>T (p.Gln18His) c.26+1068G>T (n.26+1068G>T) | gnomAD v4 |
10 | g.110644509C>A | CA378527443 | RBM20 | c.55C>A (p.Pro19Thr) c.26+1069C>A (n.26+1069C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110644509C>G | CA378527442 | RBM20 | c.55C>G (p.Pro19Ala) c.26+1069C>G (n.26+1069C>G) | |
10 | g.110644509C>T | CA378527440 | RBM20 | c.55C>T (p.Pro19Ser) c.26+1069C>T (n.26+1069C>T) | gnomAD v4 |
10 | g.110644510C>A | CA378527446 | RBM20 | c.56C>A (p.Pro19Gln) c.26+1070C>A (n.26+1070C>A) | gnomAD v4 |
10 | g.110644510C>G | CA184130 | RBM20 | c.56C>G (p.Pro19Arg) c.26+1070C>G (n.26+1070C>G) | ClinVar dbSNP gnomAD v4 |
10 | g.110644510C>T | CA378527448 | RBM20 | c.56C>T (p.Pro19Leu) c.26+1070C>T (n.26+1070C>T) | gnomAD v4 |
10 | g.110644511G>A | CA5688487 | RBM20 | c.57G>A (p.Pro19=) c.26+1071G>A (n.26+1071G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.110644511G>C | CA471464185 | RBM20 | c.57G>C (p.Pro19=) c.26+1071G>C (n.26+1071G>C) | gnomAD v4 |
10 | g.110644511G>T | CA16605602 | RBM20 | c.57G>T (p.Pro19=) c.26+1071G>T (n.26+1071G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644511_110644512delinsTT | CA2573145535 | RBM20 | c.57_58delinsTT (p.Asp20Tyr) c.26+1071_26+1072delinsTT (n.26+1071_26+1072delinsTT) | ClinVar dbSNP |
10 | g.110644512G>A | CA378527451 | RBM20 | c.58G>A (p.Asp20Asn) c.26+1072G>A (n.26+1072G>A) | dbSNP gnomAD v4 |
10 | g.110644512G>C | CA378527453 | RBM20 | c.58G>C (p.Asp20His) c.26+1072G>C (n.26+1072G>C) | |
10 | g.110644512G>T | CA378527455 | RBM20 | c.58G>T (p.Asp20Tyr) c.26+1072G>T (n.26+1072G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644513A>C | CA378527457 | RBM20 | c.59A>C (p.Asp20Ala) c.26+1073A>C (n.26+1073A>C) | |
10 | g.110644513A>G | CA378527459 | RBM20 | c.59A>G (p.Asp20Gly) c.26+1073A>G (n.26+1073A>G) | gnomAD v4 |
10 | g.110644513A>T | CA378527461 | RBM20 | c.59A>T (p.Asp20Val) c.26+1073A>T (n.26+1073A>T) | |
10 | g.110644514C>A | CA378527463 | RBM20 | c.60C>A (p.Asp20Glu) c.26+1074C>A (n.26+1074C>A) | gnomAD v4 |
10 | g.110644514C>G | CA378527465 | RBM20 | c.60C>G (p.Asp20Glu) c.26+1074C>G (n.26+1074C>G) | gnomAD v4 |
10 | g.110644514C>T | CA471464186 | RBM20 | c.60C>T (p.Asp20=) c.26+1074C>T (n.26+1074C>T) | |
10 | g.110644515A>C | CA471464187 | RBM20 | c.61A>C (p.Arg21=) c.26+1075A>C (n.26+1075A>C) | |
10 | g.110644515A>G | CA378527467 | RBM20 | c.61A>G (p.Arg21Gly) c.26+1075A>G (n.26+1075A>G) | dbSNP gnomAD v4 |
10 | g.110644515A>T | CA378527468 | RBM20 | c.61A>T (p.Arg21Ter) c.26+1075A>T (n.26+1075A>T) | |
10 | g.110644516G>A | CA378527473 | RBM20 | c.62G>A (p.Arg21Lys) c.26+1076G>A (n.26+1076G>A) | |
10 | g.110644516G>C | CA378527475 | RBM20 | c.62G>C (p.Arg21Thr) c.26+1076G>C (n.26+1076G>C) | |
10 | g.110644516G>T | CA378527471 | RBM20 | c.62G>T (p.Arg21Ile) c.26+1076G>T (n.26+1076G>T) | gnomAD v4 |
10 | g.110644516dup | CA2843301644 | RBM20 | c.62dup (p.Val22SerfsTer?) c.26+1076dup (n.26+1076dup) | |
10 | g.110644517A>C | CA378527479 | RBM20 | c.63A>C (p.Arg21Ser) c.26+1077A>C (n.26+1077A>C) | |
10 | g.110644517A>G | CA471464188 | RBM20 | c.63A>G (p.Arg21=) c.26+1077A>G (n.26+1077A>G) | gnomAD v4 |
10 | g.110644517A>T | CA378527478 | RBM20 | c.63A>T (p.Arg21Ser) c.26+1077A>T (n.26+1077A>T) | |
10 | g.110644518G>A | CA378527484 | RBM20 | c.64G>A (p.Val22Ile) c.26+1078G>A (n.26+1078G>A) | gnomAD v4 |
10 | g.110644518G>C | CA378527482 | RBM20 | c.64G>C (p.Val22Leu) c.26+1078G>C (n.26+1078G>C) | |
10 | g.110644518G>T | CA378527486 | RBM20 | c.64G>T (p.Val22Phe) c.26+1078G>T (n.26+1078G>T) | gnomAD v4 |
10 | g.110644519T>A | CA378527488 | RBM20 | c.65T>A (p.Val22Asp) c.26+1079T>A (n.26+1079T>A) | |
10 | g.110644519T>C | CA378527489 | RBM20 | c.65T>C (p.Val22Ala) c.26+1079T>C (n.26+1079T>C) | gnomAD v4 |
10 | g.110644519T>G | CA378527491 | RBM20 | c.65T>G (p.Val22Gly) c.26+1079T>G (n.26+1079T>G) | |
10 | g.110644520dup | CA2838451832 | RBM20 | c.66dup (p.Ala23CysfsTer?) c.26+1080dup (n.26+1080dup) | |
10 | g.110644520T>A | CA471464190 | RBM20 | c.66T>A (p.Val22=) c.26+1080T>A (n.26+1080T>A) | |
10 | g.110644520T>C | CA471464191 | RBM20 | c.66T>C (p.Val22=) c.26+1080T>C (n.26+1080T>C) | gnomAD v4 |
10 | g.110644520T>G | CA471464189 | RBM20 | c.66T>G (p.Val22=) c.26+1080T>G (n.26+1080T>G) | |
10 | g.110644521G>A | CA378527493 | RBM20 | c.67G>A (p.Ala23Thr) c.26+1081G>A (n.26+1081G>A) | gnomAD v4 COSMIC |
10 | g.110644521G>C | CA378527495 | RBM20 | c.67G>C (p.Ala23Pro) c.26+1081G>C (n.26+1081G>C) | |
10 | g.110644521G>T | CA378527497 | RBM20 | c.67G>T (p.Ala23Ser) c.26+1081G>T (n.26+1081G>T) | gnomAD v4 |
10 | g.110644522C>A | CA378527500 | RBM20 | c.68C>A (p.Ala23Asp) c.26+1082C>A (n.26+1082C>A) | gnomAD v4 |
10 | g.110644522C>G | CA378527501 | RBM20 | c.68C>G (p.Ala23Gly) c.26+1082C>G (n.26+1082C>G) | ClinVar gnomAD v4 |
10 | g.110644522C>T | CA213903188 | RBM20 | c.68C>T (p.Ala23Val) c.26+1082C>T (n.26+1082C>T) | ClinVar dbSNP gnomAD v4 |
10 | g.110644523C>A | CA471464194 | RBM20 | c.69C>A (p.Ala23=) c.26+1083C>A (n.26+1083C>A) | gnomAD v4 |
10 | g.110644523C>G | CA471464192 | RBM20 | c.69C>G (p.Ala23=) c.26+1083C>G (n.26+1083C>G) | |
10 | g.110644523C>T | CA471464193 | RBM20 | c.69C>T (p.Ala23=) c.26+1083C>T (n.26+1083C>T) | ClinVar dbSNP gnomAD v4 |
10 | g.110644524T>A | CA378527504 | RBM20 | c.70T>A (p.Cys24Ser) c.26+1084T>A (n.26+1084T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.110644524T>C | CA378527506 | RBM20 | c.70T>C (p.Cys24Arg) c.26+1084T>C (n.26+1084T>C) | ClinVar dbSNP gnomAD v4 |
10 | g.110644524T>G | CA378527507 | RBM20 | c.70T>G (p.Cys24Gly) c.26+1084T>G (n.26+1084T>G) | |
10 | g.110644525G>A | CA378527511 | RBM20 | c.71G>A (p.Cys24Tyr) c.26+1085G>A (n.26+1085G>A) | gnomAD v4 |
10 | g.110644525G>C | CA378527509 | RBM20 | c.71G>C (p.Cys24Ser) c.26+1085G>C (n.26+1085G>C) | |
10 | g.110644525G>T | CA378527510 | RBM20 | c.71G>T (p.Cys24Phe) c.26+1085G>T (n.26+1085G>T) | gnomAD v4 |
10 | g.110644526C>A | CA378527513 | RBM20 | c.72C>A (p.Cys24Ter) c.26+1086C>A (n.26+1086C>A) | gnomAD v4 |
10 | g.110644526C>G | CA378527517 | RBM20 | c.72C>G (p.Cys24Trp) c.26+1086C>G (n.26+1086C>G) | |
10 | g.110644526C>T | CA471464195 | RBM20 | c.72C>T (p.Cys24=) c.26+1086C>T (n.26+1086C>T) | ClinVar dbSNP gnomAD v4 |
10 | g.110644527A>C | CA378527519 | RBM20 | c.73A>C (p.Ser25Arg) c.26+1087A>C (n.26+1087A>C) | |
10 | g.110644527A>G | CA378527521 | RBM20 | c.73A>G (p.Ser25Gly) c.26+1087A>G (n.26+1087A>G) | gnomAD v4 |
10 | g.110644527A>T | CA378527523 | RBM20 | c.73A>T (p.Ser25Cys) c.26+1087A>T (n.26+1087A>T) | dbSNP |
10 | g.110644528G>A | CA378527525 | RBM20 | c.74G>A (p.Ser25Asn) c.26+1088G>A (n.26+1088G>A) | |
10 | g.110644528G>C | CA378527527 | RBM20 | c.74G>C (p.Ser25Thr) c.26+1088G>C (n.26+1088G>C) | |
10 | g.110644528G>T | CA378527528 | RBM20 | c.74G>T (p.Ser25Ile) c.26+1088G>T (n.26+1088G>T) | gnomAD v4 |
10 | g.110644531_110644532dup | CA2843301645 | RBM20 | c.77_78dup (p.Pro27CysfsTer?) c.26+1091_26+1092dup (n.26+1091_26+1092dup) | |
10 | g.110644529T>A | CA378527531 | RBM20 | c.75T>A (p.Ser25Arg) c.26+1089T>A (n.26+1089T>A) | |
10 | g.110644529T>C | CA471464196 | RBM20 | c.75T>C (p.Ser25=) c.26+1089T>C (n.26+1089T>C) | ClinVar dbSNP gnomAD v4 |
10 | g.110644529T>G | CA378527533 | RBM20 | c.75T>G (p.Ser25Arg) c.26+1089T>G (n.26+1089T>G) | |
10 | g.110644530G>A | CA378527541 | RBM20 | c.76G>A (p.Val26Met) c.26+1090G>A (n.26+1090G>A) | gnomAD v4 |
10 | g.110644530G>C | CA378527538 | RBM20 | c.76G>C (p.Val26Leu) c.26+1090G>C (n.26+1090G>C) | |
10 | g.110644530G>T | CA378527536 | RBM20 | c.76G>T (p.Val26Leu) c.26+1090G>T (n.26+1090G>T) | gnomAD v4 |
10 | g.110644531T>A | CA378527543 | RBM20 | c.77T>A (p.Val26Glu) c.26+1091T>A (n.26+1091T>A) | |
10 | g.110644531T>C | CA378527545 | RBM20 | c.77T>C (p.Val26Ala) c.26+1091T>C (n.26+1091T>C) | gnomAD v4 |
10 | g.110644531T>G | CA378527547 | RBM20 | c.77T>G (p.Val26Gly) c.26+1091T>G (n.26+1091T>G) | |
10 | g.110644532G>A | CA471464197 | RBM20 | c.78G>A (p.Val26=) c.26+1092G>A (n.26+1092G>A) | gnomAD v4 |
10 | g.110644532G>C | CA471464198 | RBM20 | c.78G>C (p.Val26=) c.26+1092G>C (n.26+1092G>C) | |
10 | g.110644532G>T | CA471464199 | RBM20 | c.78G>T (p.Val26=) c.26+1092G>T (n.26+1092G>T) | gnomAD v4 |
10 | g.110644533C>A | CA378527549 | RBM20 | c.79C>A (p.Pro27Thr) c.26+1093C>A (n.26+1093C>A) | gnomAD v4 |
10 | g.110644533C>G | CA378527551 | RBM20 | c.79C>G (p.Pro27Ala) c.26+1093C>G (n.26+1093C>G) | |
10 | g.110644533C>T | CA378527553 | RBM20 | c.79C>T (p.Pro27Ser) c.26+1093C>T (n.26+1093C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110644534C>A | CA378527555 | RBM20 | c.80C>A (p.Pro27His) c.26+1094C>A (n.26+1094C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644534C>G | CA378527557 | RBM20 | c.80C>G (p.Pro27Arg) c.26+1094C>G (n.26+1094C>G) | |
10 | g.110644534C>T | CA378527567 | RBM20 | c.80C>T (p.Pro27Leu) c.26+1094C>T (n.26+1094C>T) | |
10 | g.110644535T>A | CA471464200 | RBM20 | c.81T>A (p.Pro27=) c.26+1095T>A (n.26+1095T>A) | |
10 | g.110644535T>C | CA213903189 | RBM20 | c.81T>C (p.Pro27=) c.26+1095T>C (n.26+1095T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110644535T>G | CA471464201 | RBM20 | c.81T>G (p.Pro27=) c.26+1095T>G (n.26+1095T>G) | |
10 | g.110644536G>A | CA378527570 | RBM20 | c.82G>A (p.Gly28Ser) c.26+1096G>A (n.26+1096G>A) | gnomAD v4 |
10 | g.110644536G>C | CA378527572 | RBM20 | c.82G>C (p.Gly28Arg) c.26+1096G>C (n.26+1096G>C) | |
10 | g.110644536G>T | CA378527573 | RBM20 | c.82G>T (p.Gly28Cys) c.26+1096G>T (n.26+1096G>T) | gnomAD v4 |
10 | g.110644537G>A | CA378527580 | RBM20 | c.83G>A (p.Gly28Asp) c.26+1097G>A (n.26+1097G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644537G>C | CA378527576 | RBM20 | c.83G>C (p.Gly28Ala) c.26+1097G>C (n.26+1097G>C) | |
10 | g.110644537G>T | CA378527578 | RBM20 | c.83G>T (p.Gly28Val) c.26+1097G>T (n.26+1097G>T) | gnomAD v4 |
10 | g.110644538T>A | CA471464202 | RBM20 | c.84T>A (p.Gly28=) c.26+1098T>A (n.26+1098T>A) | |
10 | g.110644538T>C | CA471464203 | RBM20 | c.84T>C (p.Gly28=) c.26+1098T>C (n.26+1098T>C) | gnomAD v4 |
10 | g.110644538T>G | CA471464204 | RBM20 | c.84T>G (p.Gly28=) c.26+1098T>G (n.26+1098T>G) | |
10 | g.110644539G>A | CA378527582 | RBM20 | c.85G>A (p.Ala29Thr) c.26+1099G>A (n.26+1099G>A) | gnomAD v4 |
10 | g.110644539G>C | CA378527584 | RBM20 | c.85G>C (p.Ala29Pro) c.26+1099G>C (n.26+1099G>C) | gnomAD v4 |
10 | g.110644539G>T | CA378527586 | RBM20 | c.85G>T (p.Ala29Ser) c.26+1099G>T (n.26+1099G>T) | gnomAD v4 |
10 | g.110644541_110644546del | CA2573145536 | RBM20 | c.87_92del (p.Arg30_Ala31del) c.26+1101_26+1106del (n.26+1101_26+1106del) | ClinVar dbSNP |
10 | g.110644540C>A | CA378527594 | RBM20 | c.86C>A (p.Ala29Asp) c.26+1100C>A (n.26+1100C>A) | gnomAD v4 |
10 | g.110644540C>G | CA378527596 | RBM20 | c.86C>G (p.Ala29Gly) c.26+1100C>G (n.26+1100C>G) | |
10 | g.110644540C>T | CA378527598 | RBM20 | c.86C>T (p.Ala29Val) c.26+1100C>T (n.26+1100C>T) | gnomAD v4 COSMIC |
10 | g.110644541C>A | CA471464205 | RBM20 | c.87C>A (p.Ala29=) c.26+1101C>A (n.26+1101C>A) | |
10 | g.110644541C>G | CA471464207 | RBM20 | c.87C>G (p.Ala29=) c.26+1101C>G (n.26+1101C>G) | |
10 | g.110644541C>T | CA471464206 | RBM20 | c.87C>T (p.Ala29=) c.26+1101C>T (n.26+1101C>T) | gnomAD v4 |
10 | g.110644542C>A | CA471464208 | RBM20 | c.88C>A (p.Arg30=) c.26+1102C>A (n.26+1102C>A) | gnomAD v4 |
10 | g.110644542C>G | CA378527600 | RBM20 | c.88C>G (p.Arg30Gly) c.26+1102C>G (n.26+1102C>G) | ClinVar |
10 | g.110644542C>T | CA378527601 | RBM20 | c.88C>T (p.Arg30Trp) c.26+1102C>T (n.26+1102C>T) | dbSNP gnomAD v4 |
10 | g.110644543G>A | CA378527615 | RBM20 | c.89G>A (p.Arg30Gln) c.26+1103G>A (n.26+1103G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110644543G>C | CA378527616 | RBM20 | c.89G>C (p.Arg30Pro) c.26+1103G>C (n.26+1103G>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110644543G>T | CA378527619 | RBM20 | c.89G>T (p.Arg30Leu) c.26+1103G>T (n.26+1103G>T) | gnomAD v4 |
10 | g.110644543_110644544delinsCA | CA2497306215 | RBM20 | c.89_90delinsCA (p.Arg30Pro) c.26+1103_26+1104delinsCA (n.26+1103_26+1104delinsCA) | ClinVar dbSNP |
10 | g.110644544G>A | CA133423 | RBM20 | c.90G>A (p.Arg30=) c.26+1104G>A (n.26+1104G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644544G>C | CA471464209 | RBM20 | c.90G>C (p.Arg30=) c.26+1104G>C (n.26+1104G>C) | |
10 | g.110644544G= | CA2573049929 | RBM20 | c.90G= (p.Arg30=) c.26+1104G= (n.26+1104G=) | |
10 | g.110644544G>T | CA471464210 | RBM20 | c.90G>T (p.Arg30=) c.26+1104G>T (n.26+1104G>T) | gnomAD v4 |
10 | g.110644545G>A | CA378527624 | RBM20 | c.91G>A (p.Ala31Thr) c.26+1105G>A (n.26+1105G>A) | gnomAD v4 |
10 | g.110644545G>C | CA378527626 | RBM20 | c.91G>C (p.Ala31Pro) c.26+1105G>C (n.26+1105G>C) | |
10 | g.110644545G>T | CA378527622 | RBM20 | c.91G>T (p.Ala31Ser) c.26+1105G>T (n.26+1105G>T) | gnomAD v4 |
10 | g.110644546C>A | CA378527632 | RBM20 | c.92C>A (p.Ala31Glu) c.26+1106C>A (n.26+1106C>A) | gnomAD v4 |
10 | g.110644546C>G | CA378527629 | RBM20 | c.92C>G (p.Ala31Gly) c.26+1106C>G (n.26+1106C>G) | |
10 | g.110644546C>T | CA378527630 | RBM20 | c.92C>T (p.Ala31Val) c.26+1106C>T (n.26+1106C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110644547G>A | CA471464211 | RBM20 | c.93G>A (p.Ala31=) c.26+1107G>A (n.26+1107G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110644547G>C | CA471464212 | RBM20 | c.93G>C (p.Ala31=) c.26+1107G>C (n.26+1107G>C) | |
10 | g.110644547G>T | CA471464213 | RBM20 | c.93G>T (p.Ala31=) c.26+1107G>T (n.26+1107G>T) | gnomAD v4 |
10 | g.110644548T>A | CA378527634 | RBM20 | c.94T>A (p.Ser32Thr) c.26+1108T>A (n.26+1108T>A) | |
10 | g.110644548T>C | CA378527635 | RBM20 | c.94T>C (p.Ser32Pro) c.26+1108T>C (n.26+1108T>C) | dbSNP gnomAD v4 |
10 | g.110644548T>G | CA378527637 | RBM20 | c.94T>G (p.Ser32Ala) c.26+1108T>G (n.26+1108T>G) | |
10 | g.110644549C>A | CA378527639 | RBM20 | c.95C>A (p.Ser32Tyr) c.26+1109C>A (n.26+1109C>A) | gnomAD v4 |
10 | g.110644549C>G | CA378527641 | RBM20 | c.95C>G (p.Ser32Cys) c.26+1109C>G (n.26+1109C>G) | gnomAD v4 |
10 | g.110644549C>T | CA378527643 | RBM20 | c.95C>T (p.Ser32Phe) c.26+1109C>T (n.26+1109C>T) | gnomAD v4 |
10 | g.110644552del | CA596022008 | RBM20 | c.98del (p.Pro33ArgfsTer?) c.26+1112del (n.26+1112del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644550C>A | CA471464214 | RBM20 | c.96C>A (p.Ser32=) c.26+1110C>A (n.26+1110C>A) | |
10 | g.110644550C>G | CA5688488 | RBM20 | c.96C>G (p.Ser32=) c.26+1110C>G (n.26+1110C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.110644550C>T | CA471464215 | RBM20 | c.96C>T (p.Ser32=) c.26+1110C>T (n.26+1110C>T) | gnomAD v4 |
10 | g.110644551C>A | CA378527646 | RBM20 | c.97C>A (p.Pro33Thr) c.26+1111C>A (n.26+1111C>A) | |
10 | g.110644551C>G | CA378527648 | RBM20 | c.97C>G (p.Pro33Ala) c.26+1111C>G (n.26+1111C>G) | |
10 | g.110644551C>T | CA378527649 | RBM20 | c.97C>T (p.Pro33Ser) c.26+1111C>T (n.26+1111C>T) | gnomAD v4 |
10 | g.110644552C>A | CA378527655 | RBM20 | c.98C>A (p.Pro33Gln) c.26+1112C>A (n.26+1112C>A) | gnomAD v4 |
10 | g.110644552C>G | CA378527652 | RBM20 | c.98C>G (p.Pro33Arg) c.26+1112C>G (n.26+1112C>G) | ClinVar gnomAD v4 |
10 | g.110644552C>T | CA378527654 | RBM20 | c.98C>T (p.Pro33Leu) c.26+1112C>T (n.26+1112C>T) | gnomAD v4 |