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 |
|---|---|---|---|---|---|
| X | g.47576136T>A | CA412826108 | SYN1 | c.1153A>T (p.Ile385Phe) | |
| X | g.47576136T>C | CA412826109 | SYN1 | c.1153A>G (p.Ile385Val) | |
| X | g.47576136T>G | CA412826111 | SYN1 | c.1153A>C (p.Ile385Leu) | |
| X | g.47576137G>A | CA515992342 | SYN1 | c.1152C>T (p.Ile384=) | |
| X | g.47576137G>C | CA412826114 | SYN1 | c.1152C>G (p.Ile384Met) | |
| X | g.47576137G>T | CA515992345 | SYN1 | c.1152C>A (p.Ile384=) | |
| X | g.47576138A>C | CA412826118 | SYN1 | c.1151T>G (p.Ile384Ser) | |
| X | g.47576138A>G | CA412826116 | SYN1 | c.1151T>C (p.Ile384Thr) | |
| X | g.47576138A>T | CA412826117 | SYN1 | c.1151T>A (p.Ile384Asn) | |
| X | g.47576139T>A | CA412826121 | SYN1 | c.1150A>T (p.Ile384Phe) | |
| X | g.47576139T>C | CA10398406 | SYN1 | c.1150A>G (p.Ile384Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47576139T>G | CA412826124 | SYN1 | c.1150A>C (p.Ile384Leu) | |
| X | g.47576139T= | CA2427971865 | SYN1 | c.1150A= (p.Ile384=) | |
| X | g.47576140G>A | CA515992358 | SYN1 | c.1149C>T (p.His383=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.47576140G>C | CA412826127 | SYN1 | c.1149C>G (p.His383Gln) | |
| X | g.47576140G= | CA2427971866 | SYN1 | c.1149C= (p.His383=) | |
| X | g.47576140G>T | CA412826129 | SYN1 | c.1149C>A (p.His383Gln) | gnomAD v4 |
| X | g.47576141T>A | CA412826131 | SYN1 | c.1148A>T (p.His383Leu) | |
| X | g.47576141T>C | CA412826133 | SYN1 | c.1148A>G (p.His383Arg) | |
| X | g.47576141T>G | CA412826136 | SYN1 | c.1148A>C (p.His383Pro) | |
| X | g.47576142G>A | CA412826138 | SYN1 | c.1147C>T (p.His383Tyr) | COSMIC COSMIC |
| X | g.47576142G>C | CA412826139 | SYN1 | c.1147C>G (p.His383Asp) | |
| X | g.47576142G>T | CA412826140 | SYN1 | c.1147C>A (p.His383Asn) | gnomAD v4 |
| X | g.47576143A>C | CA412826142 | SYN1 | c.1146T>G (p.Asp382Glu) | |
| X | g.47576143A>G | CA515992368 | SYN1 | c.1146T>C (p.Asp382=) | gnomAD v4 |
| X | g.47576143A>T | CA412826141 | SYN1 | c.1146T>A (p.Asp382Glu) | |
| X | g.47576144T>A | CA412826143 | SYN1 | c.1145A>T (p.Asp382Val) | |
| X | g.47576144T>C | CA412826144 | SYN1 | c.1145A>G (p.Asp382Gly) | |
| X | g.47576144T>G | CA412826146 | SYN1 | c.1145A>C (p.Asp382Ala) | |
| X | g.47576145C>A | CA412826147 | SYN1 | c.1144G>T (p.Asp382Tyr) | gnomAD v4 |
| X | g.47576145C>G | CA412826154 | SYN1 | c.1144G>C (p.Asp382His) | |
| X | g.47576145C>T | CA412826157 | SYN1 | c.1144G>A (p.Asp382Asn) | |
| X | g.47576146C>A | CA412826158 | SYN1 | c.1143G>T (p.Arg381Ser) | gnomAD v4 |
| X | g.47576146C>G | CA412826161 | SYN1 | c.1143G>C (p.Arg381Ser) | |
| X | g.47576146C>T | CA515992373 | SYN1 | c.1143G>A (p.Arg381=) | |
| X | g.47576147C>A | CA412826162 | SYN1 | c.1142G>T (p.Arg381Met) | gnomAD v4 |
| X | g.47576147C>G | CA412826164 | SYN1 | c.1142G>C (p.Arg381Thr) | |
| X | g.47576147C>T | CA412826166 | SYN1 | c.1142G>A (p.Arg381Lys) | |
| X | g.47576148T>A | CA412826168 | SYN1 | c.1141A>T (p.Arg381Trp) | |
| X | g.47576148T>C | CA412826169 | SYN1 | c.1141A>G (p.Arg381Gly) | gnomAD v4 |
| X | g.47576148T>G | CA515992381 | SYN1 | c.1141A>C (p.Arg381=) | |
| X | g.47576149T>A | CA515992383 | SYN1 | c.1140A>T (p.Gly380=) | |
| X | g.47576149T>C | CA329058584 | SYN1 | c.1140A>G (p.Gly380=) | dbSNP gnomAD v4 |
| X | g.47576149T>G | CA515992386 | SYN1 | c.1140A>C (p.Gly380=) | gnomAD v4 |
| X | g.47576149T= | CA2427971867 | SYN1 | c.1140A= (p.Gly380=) | |
| X | g.47576150C>A | CA412826173 | SYN1 | c.1139G>T (p.Gly380Val) | gnomAD v4 |
| X | g.47576150C>G | CA412826172 | SYN1 | c.1139G>C (p.Gly380Ala) | |
| X | g.47576150C>T | CA412826171 | SYN1 | c.1139G>A (p.Gly380Glu) | |
| X | g.47576151C>A | CA412826175 | SYN1 | c.1138G>T (p.Gly380Ter) | gnomAD v4 |
| X | g.47576151C>G | CA412826179 | SYN1 | c.1138G>C (p.Gly380Arg) | |
| X | g.47576151C>T | CA412826177 | SYN1 | c.1138G>A (p.Gly380Arg) | gnomAD v4 COSMIC COSMIC |
| X | g.47576152G>A | CA10398407 | SYN1 | c.1137C>T (p.Asp379=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47576152G>C | CA412826186 | SYN1 | c.1137C>G (p.Asp379Glu) | |
| X | g.47576152G= | CA2427971868 | SYN1 | c.1137C= (p.Asp379=) | |
| X | g.47576152G>T | CA412826183 | SYN1 | c.1137C>A (p.Asp379Glu) | |
| X | g.47576153T>A | CA412826189 | SYN1 | c.1136A>T (p.Asp379Val) | |
| X | g.47576153T>C | CA412826193 | SYN1 | c.1136A>G (p.Asp379Gly) | |
| X | g.47576153T>G | CA412826191 | SYN1 | c.1136A>C (p.Asp379Ala) | |
| X | g.47576154C>A | CA412826195 | SYN1 | c.1135G>T (p.Asp379Tyr) | |
| X | g.47576154C>G | CA412826196 | SYN1 | c.1135G>C (p.Asp379His) | |
| X | g.47576154C>T | CA412826199 | SYN1 | c.1135G>A (p.Asp379Asn) | gnomAD v4 |
| X | g.47576155C>A | CA412826202 | SYN1 | c.1134G>T (p.Lys378Asn) | |
| X | g.47576155C= | CA2427971869 | SYN1 | c.1134G= (p.Lys378=) | |
| X | g.47576155C>G | CA412826203 | SYN1 | c.1134G>C (p.Lys378Asn) | |
| X | g.47576155C>T | CA10398408 | SYN1 | c.1134G>A (p.Lys378=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.47576156T>A | CA412826212 | SYN1 | c.1133A>T (p.Lys378Met) | |
| X | g.47576156T>C | CA412826209 | SYN1 | c.1133A>G (p.Lys378Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.47576156T>G | CA412826207 | SYN1 | c.1133A>C (p.Lys378Thr) | |
| X | g.47576157T>A | CA412826214 | SYN1 | c.1132A>T (p.Lys378Ter) | |
| X | g.47576157T>C | CA412826216 | SYN1 | c.1132A>G (p.Lys378Glu) | |
| X | g.47576157T>G | CA412826219 | SYN1 | c.1132A>C (p.Lys378Gln) | COSMIC COSMIC |
| X | g.47576158G>A | CA515992421 | SYN1 | c.1131C>T (p.Gly377=) | |
| X | g.47576158G>C | CA515992423 | SYN1 | c.1131C>G (p.Gly377=) | |
| X | g.47576158G= | CA2427971870 | SYN1 | c.1131C= (p.Gly377=) | |
| X | g.47576158G>T | CA515992425 | SYN1 | c.1131C>A (p.Gly377=) | dbSNP gnomAD v2 |
| X | g.47576159C>A | CA412826222 | SYN1 | c.1130G>T (p.Gly377Val) | gnomAD v4 |
| X | g.47576159C= | CA2427971871 | SYN1 | c.1130G= (p.Gly377=) | |
| X | g.47576159C>G | CA412826224 | SYN1 | c.1130G>C (p.Gly377Ala) | |
| X | g.47576159C>T | CA329058604 | SYN1 | c.1130G>A (p.Gly377Asp) | dbSNP |
| X | g.47576160C>A | CA412826232 | SYN1 | c.1129G>T (p.Gly377Cys) | |
| X | g.47576160C>G | CA412826228 | SYN1 | c.1129G>C (p.Gly377Arg) | |
| X | g.47576160C>T | CA412826230 | SYN1 | c.1129G>A (p.Gly377Ser) | |
| X | g.47576161A= | CA2427971872 | SYN1 | c.1128T= (p.His376=) | |
| X | g.47576161A>C | CA412826233 | SYN1 | c.1128T>G (p.His376Gln) | |
| X | g.47576161A>G | CA515992430 | SYN1 | c.1128T>C (p.His376=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47576161A>T | CA412826236 | SYN1 | c.1128T>A (p.His376Gln) | |
| X | g.47576162T>A | CA412826239 | SYN1 | c.1127A>T (p.His376Leu) | |
| X | g.47576162T>C | CA10398409 | SYN1 | c.1127A>G (p.His376Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47576162T>G | CA412826242 | SYN1 | c.1127A>C (p.His376Pro) | |
| X | g.47576162T= | CA2427971873 | SYN1 | c.1127A= (p.His376=) | |
| X | g.47576163G>A | CA412826249 | SYN1 | c.1126C>T (p.His376Tyr) | gnomAD v4 |
| X | g.47576163G>C | CA412826247 | SYN1 | c.1126C>G (p.His376Asp) | |
| X | g.47576163G>T | CA412826244 | SYN1 | c.1126C>A (p.His376Asn) | |
| X | g.47576164T>A | CA515992437 | SYN1 | c.1125A>T (p.Leu375=) | |
| X | g.47576164T>C | CA515992439 | SYN1 | c.1125A>G (p.Leu375=) | |
| X | g.47576164T>G | CA515992441 | SYN1 | c.1125A>C (p.Leu375=) | |
| X | g.47576165A>C | CA412826252 | SYN1 | c.1124T>G (p.Leu375Arg) | |
| X | g.47576165A>G | CA412826253 | SYN1 | c.1124T>C (p.Leu375Pro) | gnomAD v4 |
| X | g.47576165A>T | CA412826254 | SYN1 | c.1124T>A (p.Leu375Gln) | |
| X | g.47576166G>A | CA515992447 | SYN1 | c.1123C>T (p.Leu375=) | dbSNP gnomAD v2 |
| X | g.47576166G>C | CA412826256 | SYN1 | c.1123C>G (p.Leu375Val) | |
| X | g.47576166G= | CA2427971874 | SYN1 | c.1123C= (p.Leu375=) | |
| X | g.47576166G>T | CA412826258 | SYN1 | c.1123C>A (p.Leu375Ile) | gnomAD v4 |
| X | g.47576167C>A | CA515992449 | SYN1 | c.1122G>T (p.Ala374=) | |
| X | g.47576167C= | CA2427971875 | SYN1 | c.1122G= (p.Ala374=) | |
| X | g.47576167C>G | CA515992450 | SYN1 | c.1122G>C (p.Ala374=) | |
| X | g.47576167C>T | CA329058611 | SYN1 | c.1122G>A (p.Ala374=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47576168G>A | CA412826261 | SYN1 | c.1121C>T (p.Ala374Val) | ClinVar gnomAD v4 |
| X | g.47576168G>C | CA412826266 | SYN1 | c.1121C>G (p.Ala374Gly) | |
| X | g.47576168G>T | CA412826264 | SYN1 | c.1121C>A (p.Ala374Glu) | gnomAD v4 |
| X | g.47576169C>A | CA412826269 | SYN1 | c.1120G>T (p.Ala374Ser) | |
| X | g.47576169C>G | CA412826273 | SYN1 | c.1120G>C (p.Ala374Pro) | |
| X | g.47576169C>T | CA412826270 | SYN1 | c.1120G>A (p.Ala374Thr) | |
| X | g.47576170T>A | CA412826275 | SYN1 | c.1119A>T (p.Glu373Asp) | |
| X | g.47576170T>C | CA515992461 | SYN1 | c.1119A>G (p.Glu373=) | |
| X | g.47576170T>G | CA412826277 | SYN1 | c.1119A>C (p.Glu373Asp) | |
| X | g.47576171T>A | CA412826278 | SYN1 | c.1118A>T (p.Glu373Val) | |
| X | g.47576171T>C | CA412826281 | SYN1 | c.1118A>G (p.Glu373Gly) | gnomAD v4 |
| X | g.47576171T>G | CA412826283 | SYN1 | c.1118A>C (p.Glu373Ala) | |
| X | g.47576172C>A | CA412826286 | SYN1 | c.1117G>T (p.Glu373Ter) | |
| X | g.47576172C>G | CA412826288 | SYN1 | c.1117G>C (p.Glu373Gln) | |
| X | g.47576172C>T | CA412826290 | SYN1 | c.1117G>A (p.Glu373Lys) | gnomAD v4 |
| X | g.47576173C>A | CA515992473 | SYN1 | c.1116G>T (p.Val372=) | gnomAD v4 |
| X | g.47576173C= | CA2427971876 | SYN1 | c.1116G= (p.Val372=) | |
| X | g.47576173C>G | CA515992474 | SYN1 | c.1116G>C (p.Val372=) | |
| X | g.47576173C>T | CA515992476 | SYN1 | c.1116G>A (p.Val372=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.47576174A>C | CA412826293 | SYN1 | c.1115T>G (p.Val372Gly) | |
| X | g.47576174A>G | CA412826295 | SYN1 | c.1115T>C (p.Val372Ala) | |
| X | g.47576174A>T | CA412826297 | SYN1 | c.1115T>A (p.Val372Glu) | |
| X | g.47576175C>A | CA412826306 | SYN1 | c.1114G>T (p.Val372Leu) | |
| X | g.47576175C>G | CA412826301 | SYN1 | c.1114G>C (p.Val372Leu) | |
| X | g.47576175C>T | CA412826298 | SYN1 | c.1114G>A (p.Val372Met) | |
| X | g.47576176T>A | CA515992484 | SYN1 | c.1113A>T (p.Ala371=) | |
| X | g.47576176T>C | CA515992485 | SYN1 | c.1113A>G (p.Ala371=) | gnomAD v4 |
| X | g.47576176T>G | CA515992486 | SYN1 | c.1113A>C (p.Ala371=) | |
| X | g.47576177G>A | CA412826307 | SYN1 | c.1112C>T (p.Ala371Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.47576177G>C | CA412826311 | SYN1 | c.1112C>G (p.Ala371Gly) | |
| X | g.47576177G= | CA2427971877 | SYN1 | c.1112C= (p.Ala371=) | |
| X | g.47576177G>T | CA412826313 | SYN1 | c.1112C>A (p.Ala371Glu) | |
| X | g.47576178C>A | CA412826315 | SYN1 | c.1111G>T (p.Ala371Ser) | gnomAD v4 |
| X | g.47576178C= | CA2427971878 | SYN1 | c.1111G= (p.Ala371=) | |
| X | g.47576178C>G | CA412826316 | SYN1 | c.1111G>C (p.Ala371Pro) | |
| X | g.47576178C>T | CA412826318 | SYN1 | c.1111G>A (p.Ala371Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.47576179G>A | CA318928 | SYN1 | c.1110C>T (p.Cys370=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47576179G>C | CA412826320 | SYN1 | c.1110C>G (p.Cys370Trp) | ClinVar dbSNP |
| X | g.47576179G= | CA2427971879 | SYN1 | c.1110C= (p.Cys370=) | |
| X | g.47576179G>T | CA412826321 | SYN1 | c.1110C>A (p.Cys370Ter) | ClinVar |
| X | g.47576180C>A | CA412826324 | SYN1 | c.1109G>T (p.Cys370Phe) | |
| X | g.47576180C>G | CA412826325 | SYN1 | c.1109G>C (p.Cys370Ser) | |
| X | g.47576180C>T | CA412826327 | SYN1 | c.1109G>A (p.Cys370Tyr) | gnomAD v4 |
| X | g.47576181A>C | CA412826330 | SYN1 | c.1108T>G (p.Cys370Gly) | |
| X | g.47576181A>G | CA412826335 | SYN1 | c.1108T>C (p.Cys370Arg) | |
| X | g.47576181A>T | CA412826332 | SYN1 | c.1108T>A (p.Cys370Ser) | |
| X | g.47576182G>A | CA224047 | SYN1 | c.1107C>T (p.Ile369=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47576182G>C | CA412826338 | SYN1 | c.1107C>G (p.Ile369Met) | |
| X | g.47576182G= | CA2427971880 | SYN1 | c.1107C= (p.Ile369=) | |
| X | g.47576182G>T | CA515992514 | SYN1 | c.1107C>A (p.Ile369=) | |
| X | g.47576183A>C | CA412826341 | SYN1 | c.1106T>G (p.Ile369Ser) | |
| X | g.47576183A>G | CA412826342 | SYN1 | c.1106T>C (p.Ile369Thr) | |
| X | g.47576183A>T | CA412826345 | SYN1 | c.1106T>A (p.Ile369Asn) | |
| X | g.47576184T>A | CA412826350 | SYN1 | c.1105A>T (p.Ile369Phe) | |
| X | g.47576184T>C | CA412826351 | SYN1 | c.1105A>G (p.Ile369Val) | |
| X | g.47576184T>G | CA412826354 | SYN1 | c.1105A>C (p.Ile369Leu) | |
| X | g.47576185G>A | CA515992523 | SYN1 | c.1104C>T (p.Asp368=) | |
| X | g.47576185G>C | CA412826356 | SYN1 | c.1104C>G (p.Asp368Glu) | |
| X | g.47576185G>T | CA412826358 | SYN1 | c.1104C>A (p.Asp368Glu) | gnomAD v4 |
| X | g.47576186T>A | CA412826362 | SYN1 | c.1103A>T (p.Asp368Val) | gnomAD v4 |
| X | g.47576186T>C | CA412826364 | SYN1 | c.1103A>G (p.Asp368Gly) | |
| X | g.47576186T>G | CA412826366 | SYN1 | c.1103A>C (p.Asp368Ala) | |
| X | g.47576187C>A | CA412826372 | SYN1 | c.1102G>T (p.Asp368Tyr) | |
| X | g.47576187C= | CA2427971881 | SYN1 | c.1102G= (p.Asp368=) | |
| X | g.47576187C>G | CA412826370 | SYN1 | c.1102G>C (p.Asp368His) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.47576187C>T | CA412826367 | SYN1 | c.1102G>A (p.Asp368Asn) | gnomAD v4 |
| X | g.47576188C>A | CA515992538 | SYN1 | c.1101G>T (p.Leu367=) | |
| X | g.47576188C>G | CA515992544 | SYN1 | c.1101G>C (p.Leu367=) | |
| X | g.47576188C>T | CA515992539 | SYN1 | c.1101G>A (p.Leu367=) | |
| X | g.47576189A>C | CA412826375 | SYN1 | c.1100T>G (p.Leu367Arg) | |
| X | g.47576189A>G | CA412826377 | SYN1 | c.1100T>C (p.Leu367Pro) | |
| X | g.47576189A>T | CA412826378 | SYN1 | c.1100T>A (p.Leu367Gln) | |
| X | g.47576190G>A | CA10398410 | SYN1 | c.1099C>T (p.Leu367=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.47576190G>C | CA412826381 | SYN1 | c.1099C>G (p.Leu367Val) | |
| X | g.47576190G= | CA2427971882 | SYN1 | c.1099C= (p.Leu367=) | |
| X | g.47576190G>T | CA412826383 | SYN1 | c.1099C>A (p.Leu367Met) | |
| X | g.47576191T>A | CA515992553 | SYN1 | c.1098A>T (p.Gly366=) | |
| X | g.47576191T>C | CA515992554 | SYN1 | c.1098A>G (p.Gly366=) | |
| X | g.47576191T>G | CA515992560 | SYN1 | c.1098A>C (p.Gly366=) | |
| X | g.47576191_47576193del | CA2693585701 | SYN1 | c.1096_1098del (p.Gly366del) | gnomAD v4 |
| X | g.47576192C>A | CA412826385 | SYN1 | c.1097G>T (p.Gly366Val) | |
| X | g.47576192C>G | CA412826387 | SYN1 | c.1097G>C (p.Gly366Ala) | |
| X | g.47576192C>T | CA412826388 | SYN1 | c.1097G>A (p.Gly366Glu) | |
| X | g.47576193C>A | CA412826390 | SYN1 | c.1096G>T (p.Gly366Ter) | |
| X | g.47576193C>G | CA412826392 | SYN1 | c.1096G>C (p.Gly366Arg) | |
| X | g.47576193C>T | CA412826393 | SYN1 | c.1096G>A (p.Gly366Arg) | |
| X | g.47576194C>A | CA515992566 | SYN1 | c.1095G>T (p.Gly365=) | |
| X | g.47576194C>G | CA515992568 | SYN1 | c.1095G>C (p.Gly365=) | |
| X | g.47576194C>T | CA515992570 | SYN1 | c.1095G>A (p.Gly365=) | |
| X | g.47576195C>A | CA412826396 | SYN1 | c.1094G>T (p.Gly365Val) | gnomAD v4 |
| X | g.47576195C= | CA2427971883 | SYN1 | c.1094G= (p.Gly365=) | |
| X | g.47576195C>G | CA412826397 | SYN1 | c.1094G>C (p.Gly365Ala) | |
| X | g.47576195C>T | CA10398411 | SYN1 | c.1094G>A (p.Gly365Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.47576196C>A | CA412826399 | SYN1 | c.1093G>T (p.Gly365Trp) | gnomAD v4 |
| X | g.47576196C>G | CA412826402 | SYN1 | c.1093G>C (p.Gly365Arg) | |
| X | g.47576196C>T | CA412826403 | SYN1 | c.1093G>A (p.Gly365Arg) | ClinVar dbSNP |
| X | g.47576197A>C | CA412826405 | SYN1 | c.1092T>G (p.Phe364Leu) | gnomAD v4 |
| X | g.47576197A>G | CA515992579 | SYN1 | c.1092T>C (p.Phe364=) | gnomAD v4 |
| X | g.47576197A>T | CA412826406 | SYN1 | c.1092T>A (p.Phe364Leu) | |
| X | g.47576201del | CA2693585702 | SYN1 | c.1092del (p.Phe364LeufsTer?) | gnomAD v4 |
| X | g.47576198A>C | CA412826408 | SYN1 | c.1091T>G (p.Phe364Cys) | |
| X | g.47576198A>G | CA412826410 | SYN1 | c.1091T>C (p.Phe364Ser) | |
| X | g.47576198A>T | CA412826411 | SYN1 | c.1091T>A (p.Phe364Tyr) | |
| X | g.47576199A>C | CA412826414 | SYN1 | c.1090T>G (p.Phe364Val) | |
| X | g.47576199A>G | CA412826415 | SYN1 | c.1090T>C (p.Phe364Leu) | |
| X | g.47576199A>T | CA412826418 | SYN1 | c.1090T>A (p.Phe364Ile) | |
| X | g.47576200A>C | CA412826419 | SYN1 | c.1089T>G (p.Ile363Met) | |
| X | g.47576200A>G | CA515992589 | SYN1 | c.1089T>C (p.Ile363=) | |
| X | g.47576200A>T | CA515992592 | SYN1 | c.1089T>A (p.Ile363=) | |
| X | g.47576201A>C | CA412826424 | SYN1 | c.1088T>G (p.Ile363Ser) | |
| X | g.47576201A>G | CA412826427 | SYN1 | c.1088T>C (p.Ile363Thr) | |
| X | g.47576201A>T | CA412826422 | SYN1 | c.1088T>A (p.Ile363Asn) | |
| X | g.47576202T>A | CA412826430 | SYN1 | c.1087A>T (p.Ile363Phe) | |
| X | g.47576202T>C | CA412826432 | SYN1 | c.1087A>G (p.Ile363Val) | COSMIC COSMIC |
| X | g.47576202T>G | CA412826433 | SYN1 | c.1087A>C (p.Ile363Leu) | |
| X | g.47576203C>A | CA412826436 | SYN1 | c.1086G>T (p.Glu362Asp) | gnomAD v4 |
| X | g.47576203C>G | CA412826438 | SYN1 | c.1086G>C (p.Glu362Asp) | |
| X | g.47576203C>T | CA515992600 | SYN1 | c.1086G>A (p.Glu362=) | |
| X | g.47576204T>A | CA412826446 | SYN1 | c.1085A>T (p.Glu362Val) | |
| X | g.47576204T>C | CA412826443 | SYN1 | c.1085A>G (p.Glu362Gly) | |
| X | g.47576204T>G | CA412826442 | SYN1 | c.1085A>C (p.Glu362Ala) | |
| X | g.47576205C>A | CA412826448 | SYN1 | c.1084G>T (p.Glu362Ter) | |
| X | g.47576205C>G | CA412826449 | SYN1 | c.1084G>C (p.Glu362Gln) | |
| X | g.47576205C>T | CA412826451 | SYN1 | c.1084G>A (p.Glu362Lys) | |
| X | g.47576206T>A | CA515992606 | SYN1 | c.1083A>T (p.Ser361=) | |
| X | g.47576206T>C | CA515992608 | SYN1 | c.1083A>G (p.Ser361=) | dbSNP gnomAD v4 |
| X | g.47576206T>G | CA515992609 | SYN1 | c.1083A>C (p.Ser361=) | |
| X | g.47576206T= | CA2427971884 | SYN1 | c.1083A= (p.Ser361=) | |
| X | g.47576207G>A | CA412826453 | SYN1 | c.1082C>T (p.Ser361Leu) | |
| X | g.47576207G>C | CA412826455 | SYN1 | c.1082C>G (p.Ser361Ter) | |
| X | g.47576207G>T | CA412826458 | SYN1 | c.1082C>A (p.Ser361Ter) | |
| X | g.47576208A>C | CA412826459 | SYN1 | c.1081T>G (p.Ser361Ala) | |
| X | g.47576208A>G | CA412826462 | SYN1 | c.1081T>C (p.Ser361Pro) | |
| X | g.47576208A>T | CA412826460 | SYN1 | c.1081T>A (p.Ser361Thr) | |
| X | g.47576209G>A | CA515992621 | SYN1 | c.1080C>T (p.Cys360=) | |
| X | g.47576209G>C | CA412826464 | SYN1 | c.1080C>G (p.Cys360Trp) | |
| X | g.47576209G>T | CA412826465 | SYN1 | c.1080C>A (p.Cys360Ter) | |
| X | g.47576210C>A | CA412826467 | SYN1 | c.1079G>T (p.Cys360Phe) | |
| X | g.47576210C>G | CA412826471 | SYN1 | c.1079G>C (p.Cys360Ser) | |
| X | g.47576210C>T | CA412826469 | SYN1 | c.1079G>A (p.Cys360Tyr) | |
| X | g.47576211A>C | CA412826472 | SYN1 | c.1078T>G (p.Cys360Gly) | |
| X | g.47576211A>G | CA412826474 | SYN1 | c.1078T>C (p.Cys360Arg) | |
| X | g.47576211A>T | CA412826476 | SYN1 | c.1078T>A (p.Cys360Ser) | |
| X | g.47576212C>A | CA515992628 | SYN1 | c.1077G>T (p.Thr359=) | gnomAD v4 |
| X | g.47576212C= | CA2427971885 | SYN1 | c.1077G= (p.Thr359=) | |
| X | g.47576212C>G | CA515992630 | SYN1 | c.1077G>C (p.Thr359=) | |
| X | g.47576212C>T | CA515992632 | SYN1 | c.1077G>A (p.Thr359=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.47576213G>A | CA10398412 | SYN1 | c.1076C>T (p.Thr359Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.47576213G>C | CA329058632 | SYN1 | c.1076C>G (p.Thr359Arg) | dbSNP |
| X | g.47576213G= | CA2427971886 | SYN1 | c.1076C= (p.Thr359=) | |
| X | g.47576213G>T | CA10398413 | SYN1 | c.1076C>A (p.Thr359Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.47576213_47576214insAGAAGG | CA920409020 | SYN1 | c.1076_1077insCTTCTC (p.Thr359_Cys360insPheSer) | dbSNP |
| X | g.47576214T>A | CA412826489 | SYN1 | c.1075A>T (p.Thr359Ser) | |
| X | g.47576214T>C | CA412826491 | SYN1 | c.1075A>G (p.Thr359Ala) | |
| X | g.47576214T>G | CA412826494 | SYN1 | c.1075A>C (p.Thr359Pro) | |
| X | g.47576215G>A | CA515992640 | SYN1 | c.1074C>T (p.Asp358=) | |
| X | g.47576215G>C | CA412826495 | SYN1 | c.1074C>G (p.Asp358Glu) | |
| X | g.47576215G>T | CA412826497 | SYN1 | c.1074C>A (p.Asp358Glu) | |
| X | g.47576216T>A | CA412826504 | SYN1 | c.1073A>T (p.Asp358Val) | |
| X | g.47576216T>C | CA412826503 | SYN1 | c.1073A>G (p.Asp358Gly) | |
| X | g.47576216T>G | CA412826501 | SYN1 | c.1073A>C (p.Asp358Ala) | |
| X | g.47576217C>A | CA412826507 | SYN1 | c.1072G>T (p.Asp358Tyr) | gnomAD v4 |
| X | g.47576217C>G | CA412826508 | SYN1 | c.1072G>C (p.Asp358His) | |
| X | g.47576217C>T | CA412826511 | SYN1 | c.1072G>A (p.Asp358Asn) | ClinVar gnomAD v4 |
| X | g.47576218del | CA2579596774 | SYN1 | c.1072del (p.Asp358ThrfsTer?) | |
| X | g.47576218C>A | CA515992650 | SYN1 | c.1071G>T (p.Val357=) | |
| X | g.47576218C>G | CA515992651 | SYN1 | c.1071G>C (p.Val357=) | |
| X | g.47576218C>T | CA515992652 | SYN1 | c.1071G>A (p.Val357=) | |
| X | g.47576219A>C | CA412826513 | SYN1 | c.1070T>G (p.Val357Gly) | |
| X | g.47576219A>G | CA412826516 | SYN1 | c.1070T>C (p.Val357Ala) | |
| X | g.47576219A>T | CA412826518 | SYN1 | c.1070T>A (p.Val357Glu) | |
| X | g.47576220C>A | CA412826520 | SYN1 | c.1069G>T (p.Val357Leu) | |
| X | g.47576220C>G | CA412826522 | SYN1 | c.1069G>C (p.Val357Leu) | |
| X | g.47576220C>T | CA412826524 | SYN1 | c.1069G>A (p.Val357Met) | gnomAD v4 |
| X | g.47576221C>A | CA412826526 | SYN1 | c.1068G>T (p.Trp356Cys) | gnomAD v4 |
| X | g.47576221C>G | CA412826527 | SYN1 | c.1068G>C (p.Trp356Cys) | |
| X | g.47576221C>T | CA412826530 | SYN1 | c.1068G>A (p.Trp356Ter) | |
| X | g.47576222C>A | CA412826536 | SYN1 | c.1067G>T (p.Trp356Leu) | gnomAD v4 |
| X | g.47576222C= | CA2427971887 | SYN1 | c.1067G= (p.Trp356=) | |
| X | g.47576222C>G | CA412826533 | SYN1 | c.1067G>C (p.Trp356Ser) | |
| X | g.47576222C>T | CA120799 | SYN1 | c.1067G>A (p.Trp356Ter) | ClinVar dbSNP |
| X | g.47576223A>C | CA412826537 | SYN1 | c.1066T>G (p.Trp356Gly) | |
| X | g.47576223A>G | CA412826540 | SYN1 | c.1066T>C (p.Trp356Arg) | |
| X | g.47576223A>T | CA412826542 | SYN1 | c.1066T>A (p.Trp356Arg) | |
| X | g.47576224C>A | CA515992672 | SYN1 | c.1065G>T (p.Leu355=) | |
| X | g.47576224C= | CA2427971888 | SYN1 | c.1065G= (p.Leu355=) | |
| X | g.47576224C>G | CA515992674 | SYN1 | c.1065G>C (p.Leu355=) | |
| X | g.47576224C>T | CA515992675 | SYN1 | c.1065G>A (p.Leu355=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47576225A>C | CA412826543 | SYN1 | c.1064T>G (p.Leu355Arg) | |
| X | g.47576225A>G | CA412826544 | SYN1 | c.1064T>C (p.Leu355Pro) | |
| X | g.47576225A>T | CA412826546 | SYN1 | c.1064T>A (p.Leu355Gln) | |
| X | g.47576226G>A | CA10398414 | SYN1 | c.1063C>T (p.Leu355=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47576226G>C | CA412826547 | SYN1 | c.1063C>G (p.Leu355Val) | |
| X | g.47576226G= | CA2427971889 | SYN1 | c.1063C= (p.Leu355=) | |
| X | g.47576226G>T | CA412826549 | SYN1 | c.1063C>A (p.Leu355Met) | |
| X | g.47576227C>A | CA412826552 | SYN1 | c.1062G>T (p.Lys354Asn) | gnomAD v4 |
| X | g.47576227C>G | CA412826555 | SYN1 | c.1062G>C (p.Lys354Asn) | |
| X | g.47576227C>T | CA515992698 | SYN1 | c.1062G>A (p.Lys354=) | gnomAD v4 |
| X | g.47576228T>A | CA412826556 | SYN1 | c.1061A>T (p.Lys354Met) | |
| X | g.47576228T>C | CA412826558 | SYN1 | c.1061A>G (p.Lys354Arg) | |
| X | g.47576228T>G | CA412826559 | SYN1 | c.1061A>C (p.Lys354Thr) | |
| X | g.47576229T>A | CA412826562 | SYN1 | c.1060A>T (p.Lys354Ter) | |
| X | g.47576229T>C | CA412826565 | SYN1 | c.1060A>G (p.Lys354Glu) | |
| X | g.47576229T>G | CA412826563 | SYN1 | c.1060A>C (p.Lys354Gln) | |
| X | g.47576230G>A | CA515992706 | SYN1 | c.1059C>T (p.Tyr353=) | |
| X | g.47576230G>C | CA412826566 | SYN1 | c.1059C>G (p.Tyr353Ter) | |
| X | g.47576230G>T | CA412826568 | SYN1 | c.1059C>A (p.Tyr353Ter) | |
| X | g.47576231T>A | CA412826569 | SYN1 | c.1058A>T (p.Tyr353Phe) | |
| X | g.47576231T>C | CA412826571 | SYN1 | c.1058A>G (p.Tyr353Cys) | |
| X | g.47576231T>G | CA412826573 | SYN1 | c.1058A>C (p.Tyr353Ser) | |
| X | g.47576232A>C | CA412826574 | SYN1 | c.1057T>G (p.Tyr353Asp) | |
| X | g.47576232A>G | CA412826576 | SYN1 | c.1057T>C (p.Tyr353His) | |
| X | g.47576232A>T | CA412826577 | SYN1 | c.1057T>A (p.Tyr353Asn) | |
| X | g.47576233T>A | CA412826579 | SYN1 | c.1056A>T (p.Arg352Ser) | gnomAD v4 |
| X | g.47576233T>C | CA515992717 | SYN1 | c.1056A>G (p.Arg352=) | |
| X | g.47576233T>G | CA412826581 | SYN1 | c.1056A>C (p.Arg352Ser) | |
| X | g.47576234C>A | CA412826585 | SYN1 | c.1056-1G>T (n.1056-1G>T) | dbSNP gnomAD v4 |
| X | g.47576234C>G | CA412826584 | SYN1 | c.1056-1G>C (n.1056-1G>C) | |
| X | g.47576234C>T | CA412826583 | SYN1 | c.1056-1G>A (n.1056-1G>A) | |
| X | g.47576235T>A | CA412826586 | SYN1 | c.1056-2A>T (n.1056-2A>T) | |
| X | g.47576235T>C | CA412826590 | SYN1 | c.1056-2A>G (n.1056-2A>G) | |
| X | g.47576235T>G | CA412826588 | SYN1 | c.1056-2A>C (n.1056-2A>C) |