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 |
|---|---|---|---|---|---|
| 7 | g.73442723A>C | CA367788036 | BAZ1B | c.4094+2T>G (n.4094+2T>G) | |
| 7 | g.73442723A>G | CA367788039 | BAZ1B | c.4094+2T>C (n.4094+2T>C) | |
| 7 | g.73442723A>T | CA367788042 | BAZ1B | c.4094+2T>A (n.4094+2T>A) | |
| 7 | g.73442724C>A | CA367788048 | BAZ1B | c.4094+1G>T (n.4094+1G>T) | |
| 7 | g.73442724C>G | CA367788051 | BAZ1B | c.4094+1G>C (n.4094+1G>C) | |
| 7 | g.73442724C>T | CA367788055 | BAZ1B | c.4094+1G>A (n.4094+1G>A) | |
| 7 | g.73442725C>A | CA367788059 | BAZ1B | c.4094G>T (p.Arg1365Met) | |
| 7 | g.73442725C>G | CA367788067 | BAZ1B | c.4094G>C (p.Arg1365Thr) | |
| 7 | g.73442725C>T | CA367788071 | BAZ1B | c.4094G>A (p.Arg1365Lys) | |
| 7 | g.73442726T>A | CA367788074 | BAZ1B | c.4093A>T (p.Arg1365Trp) | |
| 7 | g.73442726T>C | CA367788078 | BAZ1B | c.4093A>G (p.Arg1365Gly) | gnomAD v4 COSMIC |
| 7 | g.73442726T>G | CA455852468 | BAZ1B | c.4093A>C (p.Arg1365=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.73442726T= | CA1717047269 | BAZ1B | c.4093A= (p.Arg1365=) | |
| 7 | g.73442726_73442727delinsTG | CA1717047268 | BAZ1B | c.4092_4093delinsCA (p.Phe1364=) | |
| 7 | g.73442727del | CA4287280 | BAZ1B | c.4092del (p.Phe1364LeufsTer5) | dbSNP ExAC gnomAD v2 |
| 7 | g.73442727G>A | CA455852472 | BAZ1B | c.4092C>T (p.Phe1364=) | |
| 7 | g.73442727G>C | CA4287281 | BAZ1B | c.4092C>G (p.Phe1364Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.73442727G= | CA1717047270 | BAZ1B | c.4092C= (p.Phe1364=) | |
| 7 | g.73442727G>T | CA367788087 | BAZ1B | c.4092C>A (p.Phe1364Leu) | |
| 7 | g.73442728A>C | CA367788101 | BAZ1B | c.4091T>G (p.Phe1364Cys) | |
| 7 | g.73442728A>G | CA367788102 | BAZ1B | c.4091T>C (p.Phe1364Ser) | |
| 7 | g.73442728A>T | CA367788103 | BAZ1B | c.4091T>A (p.Phe1364Tyr) | |
| 7 | g.73442729A>C | CA367788105 | BAZ1B | c.4090T>G (p.Phe1364Val) | |
| 7 | g.73442729A>G | CA367788109 | BAZ1B | c.4090T>C (p.Phe1364Leu) | |
| 7 | g.73442729A>T | CA367788112 | BAZ1B | c.4090T>A (p.Phe1364Ile) | |
| 7 | g.73442730G>A | CA160072178 | BAZ1B | c.4089C>T (p.Pro1363=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.73442730G>C | CA455852486 | BAZ1B | c.4089C>G (p.Pro1363=) | gnomAD v4 |
| 7 | g.73442730G= | CA1717047271 | BAZ1B | c.4089C= (p.Pro1363=) | |
| 7 | g.73442730G>T | CA455852489 | BAZ1B | c.4089C>A (p.Pro1363=) | |
| 7 | g.73442731G>A | CA367788120 | BAZ1B | c.4088C>T (p.Pro1363Leu) | |
| 7 | g.73442731G>C | CA367788122 | BAZ1B | c.4088C>G (p.Pro1363Arg) | |
| 7 | g.73442731G>T | CA367788123 | BAZ1B | c.4088C>A (p.Pro1363His) | |
| 7 | g.73442732G>A | CA367788124 | BAZ1B | c.4087C>T (p.Pro1363Ser) | COSMIC |
| 7 | g.73442732G>C | CA367788125 | BAZ1B | c.4087C>G (p.Pro1363Ala) | gnomAD v4 |
| 7 | g.73442732G>T | CA367788128 | BAZ1B | c.4087C>A (p.Pro1363Thr) | |
| 7 | g.73442733C>A | CA367788138 | BAZ1B | c.4086G>T (p.Trp1362Cys) | |
| 7 | g.73442733C>G | CA367788133 | BAZ1B | c.4086G>C (p.Trp1362Cys) | |
| 7 | g.73442733C>T | CA367788135 | BAZ1B | c.4086G>A (p.Trp1362Ter) | |
| 7 | g.73442734C>A | CA367788142 | BAZ1B | c.4085G>T (p.Trp1362Leu) | |
| 7 | g.73442734C>G | CA367788145 | BAZ1B | c.4085G>C (p.Trp1362Ser) | |
| 7 | g.73442734C>T | CA367788149 | BAZ1B | c.4085G>A (p.Trp1362Ter) | |
| 7 | g.73442735A>C | CA367788152 | BAZ1B | c.4084T>G (p.Trp1362Gly) | |
| 7 | g.73442735A>G | CA367788155 | BAZ1B | c.4084T>C (p.Trp1362Arg) | |
| 7 | g.73442735A>T | CA367788158 | BAZ1B | c.4084T>A (p.Trp1362Arg) | |
| 7 | g.73442736G>A | CA4287282 | BAZ1B | c.4083C>T (p.Ser1361=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.73442736G>C | CA367788163 | BAZ1B | c.4083C>G (p.Ser1361Arg) | |
| 7 | g.73442736G= | CA1717047272 | BAZ1B | c.4083C= (p.Ser1361=) | |
| 7 | g.73442736G>T | CA367788166 | BAZ1B | c.4083C>A (p.Ser1361Arg) | |
| 7 | g.73442737C>A | CA367788172 | BAZ1B | c.4082G>T (p.Ser1361Ile) | |
| 7 | g.73442737C= | CA1717047273 | BAZ1B | c.4082G= (p.Ser1361=) | |
| 7 | g.73442737C>G | CA367788175 | BAZ1B | c.4082G>C (p.Ser1361Thr) | dbSNP gnomAD v4 |
| 7 | g.73442737C>T | CA367788179 | BAZ1B | c.4082G>A (p.Ser1361Asn) | |
| 7 | g.73442738T>A | CA367788190 | BAZ1B | c.4081A>T (p.Ser1361Cys) | |
| 7 | g.73442738T>C | CA367788199 | BAZ1B | c.4081A>G (p.Ser1361Gly) | |
| 7 | g.73442738T>G | CA367788195 | BAZ1B | c.4081A>C (p.Ser1361Arg) | |
| 7 | g.73442739G>A | CA4287283 | BAZ1B | c.4080C>T (p.Phe1360=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.73442739G>C | CA367788211 | BAZ1B | c.4080C>G (p.Phe1360Leu) | |
| 7 | g.73442739G= | CA1717047274 | BAZ1B | c.4080C= (p.Phe1360=) | |
| 7 | g.73442739G>T | CA367788207 | BAZ1B | c.4080C>A (p.Phe1360Leu) | |
| 7 | g.73442740A>C | CA367788218 | BAZ1B | c.4079T>G (p.Phe1360Cys) | |
| 7 | g.73442740A>G | CA367788231 | BAZ1B | c.4079T>C (p.Phe1360Ser) | |
| 7 | g.73442740A>T | CA367788228 | BAZ1B | c.4079T>A (p.Phe1360Tyr) | |
| 7 | g.73442741A>C | CA367788235 | BAZ1B | c.4078T>G (p.Phe1360Val) | |
| 7 | g.73442741A>G | CA367788238 | BAZ1B | c.4078T>C (p.Phe1360Leu) | |
| 7 | g.73442741A>T | CA367788242 | BAZ1B | c.4078T>A (p.Phe1360Ile) | |
| 7 | g.73442742G>A | CA455852590 | BAZ1B | c.4077C>T (p.Arg1359=) | gnomAD v4 |
| 7 | g.73442742G>C | CA455852595 | BAZ1B | c.4077C>G (p.Arg1359=) | |
| 7 | g.73442742G>T | CA455852598 | BAZ1B | c.4077C>A (p.Arg1359=) | |
| 7 | g.73442743C>A | CA367788246 | BAZ1B | c.4076G>T (p.Arg1359Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.73442743C= | CA1717047275 | BAZ1B | c.4076G= (p.Arg1359=) | |
| 7 | g.73442743C>G | CA367788251 | BAZ1B | c.4076G>C (p.Arg1359Pro) | |
| 7 | g.73442743C>T | CA367788255 | BAZ1B | c.4076G>A (p.Arg1359His) | dbSNP gnomAD v4 |
| 7 | g.73442744G>A | CA367788260 | BAZ1B | c.4075C>T (p.Arg1359Cys) | gnomAD v4 COSMIC |
| 7 | g.73442744G>C | CA367788262 | BAZ1B | c.4075C>G (p.Arg1359Gly) | |
| 7 | g.73442744G= | CA1717047276 | BAZ1B | c.4075C= (p.Arg1359=) | |
| 7 | g.73442744G>T | CA367788266 | BAZ1B | c.4075C>A (p.Arg1359Ser) | dbSNP |
| 7 | g.73442745G>A | CA455852606 | BAZ1B | c.4074C>T (p.Tyr1358=) | gnomAD v4 |
| 7 | g.73442745G>C | CA367788284 | BAZ1B | c.4074C>G (p.Tyr1358Ter) | |
| 7 | g.73442745G>T | CA367788287 | BAZ1B | c.4074C>A (p.Tyr1358Ter) | |
| 7 | g.73442746T>A | CA367788300 | BAZ1B | c.4073A>T (p.Tyr1358Phe) | |
| 7 | g.73442746T>C | CA367788297 | BAZ1B | c.4073A>G (p.Tyr1358Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.73442746T>G | CA367788292 | BAZ1B | c.4073A>C (p.Tyr1358Ser) | |
| 7 | g.73442746T= | CA1717047277 | BAZ1B | c.4073A= (p.Tyr1358=) | |
| 7 | g.73442747A>C | CA367788305 | BAZ1B | c.4072T>G (p.Tyr1358Asp) | |
| 7 | g.73442747A>G | CA367788308 | BAZ1B | c.4072T>C (p.Tyr1358His) | gnomAD v4 |
| 7 | g.73442747A>T | CA367788313 | BAZ1B | c.4072T>A (p.Tyr1358Asn) | |
| 7 | g.73442748C>A | CA367788320 | BAZ1B | c.4071G>T (p.Lys1357Asn) | |
| 7 | g.73442748C= | CA1717047278 | BAZ1B | c.4071G= (p.Lys1357=) | |
| 7 | g.73442748C>G | CA367788324 | BAZ1B | c.4071G>C (p.Lys1357Asn) | |
| 7 | g.73442748C>T | CA160072181 | BAZ1B | c.4071G>A (p.Lys1357=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.73442749T>A | CA367788331 | BAZ1B | c.4070A>T (p.Lys1357Met) | |
| 7 | g.73442749T>C | CA4287284 | BAZ1B | c.4070A>G (p.Lys1357Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.73442749T>G | CA367788340 | BAZ1B | c.4070A>C (p.Lys1357Thr) | dbSNP gnomAD v4 |
| 7 | g.73442749T= | CA1717047279 | BAZ1B | c.4070A= (p.Lys1357=) | |
| 7 | g.73442750T>A | CA367788343 | BAZ1B | c.4069A>T (p.Lys1357Ter) | |
| 7 | g.73442750T>C | CA367788347 | BAZ1B | c.4069A>G (p.Lys1357Glu) | |
| 7 | g.73442750T>G | CA367788351 | BAZ1B | c.4069A>C (p.Lys1357Gln) | gnomAD v4 |
| 7 | g.73442751C>A | CA455852654 | BAZ1B | c.4068G>T (p.Val1356=) | |
| 7 | g.73442751C>G | CA455852648 | BAZ1B | c.4068G>C (p.Val1356=) | gnomAD v4 |
| 7 | g.73442751C>T | CA455852645 | BAZ1B | c.4068G>A (p.Val1356=) | |
| 7 | g.73442752A>C | CA367788374 | BAZ1B | c.4067T>G (p.Val1356Gly) | |
| 7 | g.73442752A>G | CA367788371 | BAZ1B | c.4067T>C (p.Val1356Ala) | |
| 7 | g.73442752A>T | CA367788356 | BAZ1B | c.4067T>A (p.Val1356Glu) | |
| 7 | g.73442753del | CA645556514 | BAZ1B | c.4066del (p.Val1356Ter) | COSMIC |
| 7 | g.73442753C>A | CA367788382 | BAZ1B | c.4066G>T (p.Val1356Leu) | |
| 7 | g.73442753C= | CA1717047280 | BAZ1B | c.4066G= (p.Val1356=) | |
| 7 | g.73442753C>G | CA367788384 | BAZ1B | c.4066G>C (p.Val1356Leu) | |
| 7 | g.73442753C>T | CA4287285 | BAZ1B | c.4066G>A (p.Val1356Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.73442754G>A | CA4287286 | BAZ1B | c.4065C>T (p.Ile1355=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.73442754G>C | CA367788392 | BAZ1B | c.4065C>G (p.Ile1355Met) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.73442754G= | CA1717047281 | BAZ1B | c.4065C= (p.Ile1355=) | |
| 7 | g.73442754G>T | CA455852671 | BAZ1B | c.4065C>A (p.Ile1355=) | |
| 7 | g.73442755A>C | CA367788393 | BAZ1B | c.4064T>G (p.Ile1355Ser) | |
| 7 | g.73442755A>G | CA367788394 | BAZ1B | c.4064T>C (p.Ile1355Thr) | |
| 7 | g.73442755A>T | CA367788395 | BAZ1B | c.4064T>A (p.Ile1355Asn) | |
| 7 | g.73442756T>A | CA367788398 | BAZ1B | c.4063A>T (p.Ile1355Phe) | |
| 7 | g.73442756T>C | CA367788401 | BAZ1B | c.4063A>G (p.Ile1355Val) | |
| 7 | g.73442756T>G | CA367788405 | BAZ1B | c.4063A>C (p.Ile1355Leu) | |
| 7 | g.73442757C>A | CA367788408 | BAZ1B | c.4062G>T (p.Lys1354Asn) | |
| 7 | g.73442757C>G | CA367788410 | BAZ1B | c.4062G>C (p.Lys1354Asn) | |
| 7 | g.73442757C>T | CA455852716 | BAZ1B | c.4062G>A (p.Lys1354=) | |
| 7 | g.73442758T>A | CA367788417 | BAZ1B | c.4061A>T (p.Lys1354Met) | |
| 7 | g.73442758T>C | CA367788419 | BAZ1B | c.4061A>G (p.Lys1354Arg) | |
| 7 | g.73442758T>G | CA367788418 | BAZ1B | c.4061A>C (p.Lys1354Thr) | |
| 7 | g.73442759T>A | CA367788420 | BAZ1B | c.4060A>T (p.Lys1354Ter) | |
| 7 | g.73442759T>C | CA367788422 | BAZ1B | c.4060A>G (p.Lys1354Glu) | gnomAD v4 |
| 7 | g.73442759T>G | CA367788425 | BAZ1B | c.4060A>C (p.Lys1354Gln) | |
| 7 | g.73442760del | CA2683219117 | BAZ1B | c.4059del (p.His1353GlnfsTer4) | gnomAD v4 |
| 7 | g.73442760G>A | CA455852740 | BAZ1B | c.4059C>T (p.His1353=) | |
| 7 | g.73442760G>C | CA367788429 | BAZ1B | c.4059C>G (p.His1353Gln) | |
| 7 | g.73442760G= | CA1717047282 | BAZ1B | c.4059C= (p.His1353=) | |
| 7 | g.73442760G>T | CA4287287 | BAZ1B | c.4059C>A (p.His1353Gln) | dbSNP ExAC gnomAD v2 |
| 7 | g.73442761T>A | CA367788438 | BAZ1B | c.4058A>T (p.His1353Leu) | |
| 7 | g.73442761T>C | CA367788443 | BAZ1B | c.4058A>G (p.His1353Arg) | |
| 7 | g.73442761T>G | CA367788447 | BAZ1B | c.4058A>C (p.His1353Pro) | |
| 7 | g.73442762G>A | CA367788452 | BAZ1B | c.4057C>T (p.His1353Tyr) | COSMIC |
| 7 | g.73442762G>C | CA367788453 | BAZ1B | c.4057C>G (p.His1353Asp) | |
| 7 | g.73442762G>T | CA367788456 | BAZ1B | c.4057C>A (p.His1353Asn) | |
| 7 | g.73442763G>A | CA455852758 | BAZ1B | c.4056C>T (p.Leu1352=) | gnomAD v4 |
| 7 | g.73442763G>C | CA4287288 | BAZ1B | c.4056C>G (p.Leu1352=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.73442763G= | CA1717047283 | BAZ1B | c.4056C= (p.Leu1352=) | |
| 7 | g.73442763G>T | CA455852765 | BAZ1B | c.4056C>A (p.Leu1352=) | |
| 7 | g.73442764A>C | CA367788471 | BAZ1B | c.4055T>G (p.Leu1352Arg) | |
| 7 | g.73442764A>G | CA367788466 | BAZ1B | c.4055T>C (p.Leu1352Pro) | COSMIC |
| 7 | g.73442764A>T | CA367788474 | BAZ1B | c.4055T>A (p.Leu1352His) | |
| 7 | g.73442765G>A | CA367788478 | BAZ1B | c.4054C>T (p.Leu1352Phe) | gnomAD v4 COSMIC |
| 7 | g.73442765G>C | CA367788482 | BAZ1B | c.4054C>G (p.Leu1352Val) | |
| 7 | g.73442765G>T | CA367788484 | BAZ1B | c.4054C>A (p.Leu1352Ile) | |
| 7 | g.73442766G>A | CA455852786 | BAZ1B | c.4053C>T (p.Ile1351=) | |
| 7 | g.73442766G>C | CA367788489 | BAZ1B | c.4053C>G (p.Ile1351Met) | |
| 7 | g.73442766G>T | CA455852781 | BAZ1B | c.4053C>A (p.Ile1351=) | gnomAD v4 |
| 7 | g.73442767A>C | CA367788494 | BAZ1B | c.4052T>G (p.Ile1351Ser) | |
| 7 | g.73442767A>G | CA367788508 | BAZ1B | c.4052T>C (p.Ile1351Thr) | |
| 7 | g.73442767A>T | CA367788513 | BAZ1B | c.4052T>A (p.Ile1351Asn) | |
| 7 | g.73442768T>A | CA367788529 | BAZ1B | c.4051A>T (p.Ile1351Phe) | |
| 7 | g.73442768T>C | CA367788534 | BAZ1B | c.4051A>G (p.Ile1351Val) | |
| 7 | g.73442768T>G | CA367788537 | BAZ1B | c.4051A>C (p.Ile1351Leu) | gnomAD v4 |
| 7 | g.73442769C>A | CA367788542 | BAZ1B | c.4050G>T (p.Glu1350Asp) | |
| 7 | g.73442769C>G | CA367788546 | BAZ1B | c.4050G>C (p.Glu1350Asp) | |
| 7 | g.73442769C>T | CA455852805 | BAZ1B | c.4050G>A (p.Glu1350=) | |
| 7 | g.73442770T>A | CA367788556 | BAZ1B | c.4049A>T (p.Glu1350Val) | |
| 7 | g.73442770T>C | CA367788548 | BAZ1B | c.4049A>G (p.Glu1350Gly) | |
| 7 | g.73442770T>G | CA367788552 | BAZ1B | c.4049A>C (p.Glu1350Ala) | |
| 7 | g.73442771C>A | CA367788565 | BAZ1B | c.4048G>T (p.Glu1350Ter) | |
| 7 | g.73442771C>G | CA367788568 | BAZ1B | c.4048G>C (p.Glu1350Gln) | |
| 7 | g.73442771C>T | CA367788570 | BAZ1B | c.4048G>A (p.Glu1350Lys) | |
| 7 | g.73442772T>A | CA367788573 | BAZ1B | c.4047A>T (p.Glu1349Asp) | |
| 7 | g.73442772T>C | CA4287289 | BAZ1B | c.4047A>G (p.Glu1349=) | dbSNP ExAC gnomAD v2 |
| 7 | g.73442772T>G | CA367788585 | BAZ1B | c.4047A>C (p.Glu1349Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.73442772T= | CA1717047284 | BAZ1B | c.4047A= (p.Glu1349=) | |
| 7 | g.73442773T>A | CA367788589 | BAZ1B | c.4046A>T (p.Glu1349Val) | |
| 7 | g.73442773T>C | CA367788591 | BAZ1B | c.4046A>G (p.Glu1349Gly) | |
| 7 | g.73442773T>G | CA367788593 | BAZ1B | c.4046A>C (p.Glu1349Ala) | |
| 7 | g.73442774C>A | CA367788599 | BAZ1B | c.4045G>T (p.Glu1349Ter) | COSMIC |
| 7 | g.73442774C= | CA1717047285 | BAZ1B | c.4045G= (p.Glu1349=) | |
| 7 | g.73442774C>G | CA367788600 | BAZ1B | c.4045G>C (p.Glu1349Gln) | dbSNP |
| 7 | g.73442774C>T | CA367788601 | BAZ1B | c.4045G>A (p.Glu1349Lys) | |
| 7 | g.73442775A>C | CA367788605 | BAZ1B | c.4044T>G (p.Cys1348Trp) | |
| 7 | g.73442775A>G | CA455852842 | BAZ1B | c.4044T>C (p.Cys1348=) | gnomAD v4 |
| 7 | g.73442775A>T | CA367788602 | BAZ1B | c.4044T>A (p.Cys1348Ter) | |
| 7 | g.73442776C>A | CA367788608 | BAZ1B | c.4043G>T (p.Cys1348Phe) | |
| 7 | g.73442776C>G | CA367788609 | BAZ1B | c.4043G>C (p.Cys1348Ser) | |
| 7 | g.73442776C>T | CA367788610 | BAZ1B | c.4043G>A (p.Cys1348Tyr) | |
| 7 | g.73442777A= | CA1717047286 | BAZ1B | c.4042T= (p.Cys1348=) | |
| 7 | g.73442777A>C | CA367788613 | BAZ1B | c.4042T>G (p.Cys1348Gly) | |
| 7 | g.73442777A>G | CA367788617 | BAZ1B | c.4042T>C (p.Cys1348Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.73442777A>T | CA367788619 | BAZ1B | c.4042T>A (p.Cys1348Ser) | |
| 7 | g.73442778C>A | CA367788631 | BAZ1B | c.4041G>T (p.Lys1347Asn) | |
| 7 | g.73442778C>G | CA367788635 | BAZ1B | c.4041G>C (p.Lys1347Asn) | |
| 7 | g.73442778C>T | CA455852861 | BAZ1B | c.4041G>A (p.Lys1347=) | |
| 7 | g.73442779T>A | CA367788636 | BAZ1B | c.4040A>T (p.Lys1347Met) | |
| 7 | g.73442779T>C | CA367788637 | BAZ1B | c.4040A>G (p.Lys1347Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.73442779T>G | CA367788638 | BAZ1B | c.4040A>C (p.Lys1347Thr) | |
| 7 | g.73442779T= | CA1717047287 | BAZ1B | c.4040A= (p.Lys1347=) | |
| 7 | g.73442780T>A | CA367788642 | BAZ1B | c.4039A>T (p.Lys1347Ter) | |
| 7 | g.73442780T>C | CA367788647 | BAZ1B | c.4039A>G (p.Lys1347Glu) | |
| 7 | g.73442780T>G | CA367788656 | BAZ1B | c.4039A>C (p.Lys1347Gln) | |
| 7 | g.73442781C>A | CA367788661 | BAZ1B | c.4038G>T (p.Gln1346His) | gnomAD v4 |
| 7 | g.73442781C>G | CA367788662 | BAZ1B | c.4038G>C (p.Gln1346His) | |
| 7 | g.73442781C>T | CA455852874 | BAZ1B | c.4038G>A (p.Gln1346=) | gnomAD v4 |
| 7 | g.73442782T>A | CA367788663 | BAZ1B | c.4037A>T (p.Gln1346Leu) | |
| 7 | g.73442782T>C | CA4287290 | BAZ1B | c.4037A>G (p.Gln1346Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.73442782T>G | CA367788668 | BAZ1B | c.4037A>C (p.Gln1346Pro) | |
| 7 | g.73442782T= | CA1717047288 | BAZ1B | c.4037A= (p.Gln1346=) | |
| 7 | g.73442783G>A | CA367788669 | BAZ1B | c.4036C>T (p.Gln1346Ter) | |
| 7 | g.73442783G>C | CA367788670 | BAZ1B | c.4036C>G (p.Gln1346Glu) | |
| 7 | g.73442783G>T | CA367788671 | BAZ1B | c.4036C>A (p.Gln1346Lys) | |
| 7 | g.73442784C>A | CA455852901 | BAZ1B | c.4035G>T (p.Leu1345=) | |
| 7 | g.73442784C= | CA1717047289 | BAZ1B | c.4035G= (p.Leu1345=) | |
| 7 | g.73442784C>G | CA455852899 | BAZ1B | c.4035G>C (p.Leu1345=) | |
| 7 | g.73442784C>T | CA455852898 | BAZ1B | c.4035G>A (p.Leu1345=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.73442785A>C | CA367788676 | BAZ1B | c.4034T>G (p.Leu1345Arg) | |
| 7 | g.73442785A>G | CA367788702 | BAZ1B | c.4034T>C (p.Leu1345Pro) | |
| 7 | g.73442785A>T | CA367788704 | BAZ1B | c.4034T>A (p.Leu1345Gln) | |
| 7 | g.73442786G>A | CA455852909 | BAZ1B | c.4033C>T (p.Leu1345=) | dbSNP |
| 7 | g.73442786G>C | CA4287291 | BAZ1B | c.4033C>G (p.Leu1345Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.73442786G= | CA1717047290 | BAZ1B | c.4033C= (p.Leu1345=) | |
| 7 | g.73442786G>T | CA367788707 | BAZ1B | c.4033C>A (p.Leu1345Met) | |
| 7 | g.73442787C>A | CA367788709 | BAZ1B | c.4032G>T (p.Glu1344Asp) | |
| 7 | g.73442787C= | CA1717047291 | BAZ1B | c.4032G= (p.Glu1344=) | |
| 7 | g.73442787C>G | CA367788711 | BAZ1B | c.4032G>C (p.Glu1344Asp) | |
| 7 | g.73442787C>T | CA455852917 | BAZ1B | c.4032G>A (p.Glu1344=) | dbSNP gnomAD v4 |
| 7 | g.73442788T>A | CA367788717 | BAZ1B | c.4031A>T (p.Glu1344Val) | |
| 7 | g.73442788T>C | CA367788721 | BAZ1B | c.4031A>G (p.Glu1344Gly) | gnomAD v4 |
| 7 | g.73442788T>G | CA367788714 | BAZ1B | c.4031A>C (p.Glu1344Ala) | |
| 7 | g.73442789C>A | CA367788727 | BAZ1B | c.4030G>T (p.Glu1344Ter) | |
| 7 | g.73442789C>G | CA367788725 | BAZ1B | c.4030G>C (p.Glu1344Gln) | |
| 7 | g.73442789C>T | CA367788729 | BAZ1B | c.4030G>A (p.Glu1344Lys) | COSMIC |
| 7 | g.73442791_73442800del | CA2683219150 | BAZ1B | c.4021_4030del (p.Gln1341SerfsTer13) | gnomAD v4 |
| 7 | g.73442790C>A | CA455852929 | BAZ1B | c.4029G>T (p.Leu1343=) | |
| 7 | g.73442790C>G | CA455852930 | BAZ1B | c.4029G>C (p.Leu1343=) | |
| 7 | g.73442790C>T | CA455852932 | BAZ1B | c.4029G>A (p.Leu1343=) | |
| 7 | g.73442791A>C | CA367788732 | BAZ1B | c.4028T>G (p.Leu1343Arg) | |
| 7 | g.73442791A>G | CA367788739 | BAZ1B | c.4028T>C (p.Leu1343Pro) | |
| 7 | g.73442791A>T | CA367788734 | BAZ1B | c.4028T>A (p.Leu1343Gln) | |
| 7 | g.73442792G>A | CA4287292 | BAZ1B | c.4027C>T (p.Leu1343=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.73442792G>C | CA367788742 | BAZ1B | c.4027C>G (p.Leu1343Val) | gnomAD v4 |
| 7 | g.73442792G= | CA1717047292 | BAZ1B | c.4027C= (p.Leu1343=) | |
| 7 | g.73442792G>T | CA367788741 | BAZ1B | c.4027C>A (p.Leu1343Met) | |
| 7 | g.73442793G>A | CA4287293 | BAZ1B | c.4026C>T (p.Ser1342=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.73442793G>C | CA367788749 | BAZ1B | c.4026C>G (p.Ser1342Arg) | |
| 7 | g.73442793G= | CA1717047293 | BAZ1B | c.4026C= (p.Ser1342=) | |
| 7 | g.73442793G>T | CA367788747 | BAZ1B | c.4026C>A (p.Ser1342Arg) | |
| 7 | g.73442794C>A | CA367788753 | BAZ1B | c.4025G>T (p.Ser1342Ile) | dbSNP gnomAD v4 |
| 7 | g.73442794C= | CA1717047294 | BAZ1B | c.4025G= (p.Ser1342=) | |
| 7 | g.73442794C>G | CA367788759 | BAZ1B | c.4025G>C (p.Ser1342Thr) | |
| 7 | g.73442794C>T | CA367788765 | BAZ1B | c.4025G>A (p.Ser1342Asn) | |
| 7 | g.73442795T>A | CA367788769 | BAZ1B | c.4024A>T (p.Ser1342Cys) | |
| 7 | g.73442795T>C | CA367788775 | BAZ1B | c.4024A>G (p.Ser1342Gly) | |
| 7 | g.73442795T>G | CA367788777 | BAZ1B | c.4024A>C (p.Ser1342Arg) | |
| 7 | g.73442796T>A | CA367788779 | BAZ1B | c.4023A>T (p.Gln1341His) | |
| 7 | g.73442796T>C | CA455852956 | BAZ1B | c.4023A>G (p.Gln1341=) | |
| 7 | g.73442796T>G | CA367788781 | BAZ1B | c.4023A>C (p.Gln1341His) | |
| 7 | g.73442797T>A | CA367788785 | BAZ1B | c.4022A>T (p.Gln1341Leu) | |
| 7 | g.73442797T>C | CA367788796 | BAZ1B | c.4022A>G (p.Gln1341Arg) | |
| 7 | g.73442797T>G | CA367788799 | BAZ1B | c.4022A>C (p.Gln1341Pro) | |
| 7 | g.73442797_73442803delinsTGCCTCC | CA1717047295 | BAZ1B | c.4016_4022delinsGGAGGCA (p.Arg1339=) | |
| 7 | g.73442798G>A | CA367788809 | BAZ1B | c.4021C>T (p.Gln1341Ter) | |
| 7 | g.73442798G>C | CA367788808 | BAZ1B | c.4021C>G (p.Gln1341Glu) | gnomAD v4 |
| 7 | g.73442798G>T | CA367788803 | BAZ1B | c.4021C>A (p.Gln1341Lys) | |
| 7 | g.73442799_73442804del | CA1717047296 | BAZ1B | c.4016_4021del (p.Arg1339_Arg1340del) | dbSNP |
| 7 | g.73442799C>A | CA367788810 | BAZ1B | c.4020G>T (p.Arg1340Ser) | dbSNP gnomAD v2 |
| 7 | g.73442799C= | CA1717047297 | BAZ1B | c.4020G= (p.Arg1340=) | |
| 7 | g.73442799C>G | CA4287294 | BAZ1B | c.4020G>C (p.Arg1340Ser) | dbSNP ExAC gnomAD v2 |
| 7 | g.73442799C>T | CA455852971 | BAZ1B | c.4020G>A (p.Arg1340=) | gnomAD v4 COSMIC |
| 7 | g.73442800C>A | CA367788816 | BAZ1B | c.4019G>T (p.Arg1340Met) | |
| 7 | g.73442800C= | CA1717047298 | BAZ1B | c.4019G= (p.Arg1340=) | |
| 7 | g.73442800C>G | CA367788844 | BAZ1B | c.4019G>C (p.Arg1340Thr) | |
| 7 | g.73442800C>T | CA4287295 | BAZ1B | c.4019G>A (p.Arg1340Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.73442801T>A | CA367788850 | BAZ1B | c.4018A>T (p.Arg1340Trp) | |
| 7 | g.73442801T>C | CA367788854 | BAZ1B | c.4018A>G (p.Arg1340Gly) | |
| 7 | g.73442801T>G | CA4287296 | BAZ1B | c.4018A>C (p.Arg1340=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.73442801T= | CA1717047299 | BAZ1B | c.4018A= (p.Arg1340=) | |
| 7 | g.73442802C>A | CA455852989 | BAZ1B | c.4017G>T (p.Arg1339=) | |
| 7 | g.73442802C= | CA1717047300 | BAZ1B | c.4017G= (p.Arg1339=) | |
| 7 | g.73442802C>G | CA4287297 | BAZ1B | c.4017G>C (p.Arg1339=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.73442802C>T | CA455852993 | BAZ1B | c.4017G>A (p.Arg1339=) | |
| 7 | g.73442803C>A | CA367788868 | BAZ1B | c.4016G>T (p.Arg1339Leu) | |
| 7 | g.73442803C= | CA1717047301 | BAZ1B | c.4016G= (p.Arg1339=) | |
| 7 | g.73442803C>G | CA367788876 | BAZ1B | c.4016G>C (p.Arg1339Pro) | |
| 7 | g.73442803C>T | CA4287298 | BAZ1B | c.4016G>A (p.Arg1339Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.73442804G>A | CA367788886 | BAZ1B | c.4015C>T (p.Arg1339Trp) | gnomAD v4 COSMIC |
| 7 | g.73442804G>C | CA367788890 | BAZ1B | c.4015C>G (p.Arg1339Gly) | |
| 7 | g.73442804G>T | CA455853001 | BAZ1B | c.4015C>A (p.Arg1339=) | |
| 7 | g.73442805G>A | CA455853004 | BAZ1B | c.4014C>T (p.Ser1338=) | gnomAD v4 |
| 7 | g.73442805G>C | CA455853007 | BAZ1B | c.4014C>G (p.Ser1338=) | |
| 7 | g.73442805G>T | CA455853010 | BAZ1B | c.4014C>A (p.Ser1338=) | |
| 7 | g.73442806G>A | CA4287299 | BAZ1B | c.4013C>T (p.Ser1338Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.73442806G>C | CA367788903 | BAZ1B | c.4013C>G (p.Ser1338Cys) | |
| 7 | g.73442806G= | CA1717047302 | BAZ1B | c.4013C= (p.Ser1338=) | |
| 7 | g.73442806G>T | CA367788915 | BAZ1B | c.4013C>A (p.Ser1338Tyr) | |
| 7 | g.73442807A>C | CA367788922 | BAZ1B | c.4012T>G (p.Ser1338Ala) | |
| 7 | g.73442807A>G | CA367788924 | BAZ1B | c.4012T>C (p.Ser1338Pro) | |
| 7 | g.73442807A>T | CA367788939 | BAZ1B | c.4012T>A (p.Ser1338Thr) | |
| 7 | g.73442808G>A | CA4287300 | BAZ1B | c.4011C>T (p.Ser1337=) | dbSNP ExAC gnomAD v2 |
| 7 | g.73442808G>C | CA367788940 | BAZ1B | c.4011C>G (p.Ser1337Arg) | |
| 7 | g.73442808G= | CA1717047303 | BAZ1B | c.4011C= (p.Ser1337=) | |
| 7 | g.73442808G>T | CA367788948 | BAZ1B | c.4011C>A (p.Ser1337Arg) | |
| 7 | g.73442809C>A | CA367788952 | BAZ1B | c.4010G>T (p.Ser1337Ile) | |
| 7 | g.73442809C= | CA1717047304 | BAZ1B | c.4010G= (p.Ser1337=) | |
| 7 | g.73442809C>G | CA367788958 | BAZ1B | c.4010G>C (p.Ser1337Thr) | |
| 7 | g.73442809C>T | CA4287301 | BAZ1B | c.4010G>A (p.Ser1337Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.73442810T>A | CA367788968 | BAZ1B | c.4009A>T (p.Ser1337Cys) | |
| 7 | g.73442810T>C | CA367788964 | BAZ1B | c.4009A>G (p.Ser1337Gly) | |
| 7 | g.73442810T>G | CA367788962 | BAZ1B | c.4009A>C (p.Ser1337Arg) | gnomAD v4 |
| 7 | g.73442811C>A | CA455853040 | BAZ1B | c.4008G>T (p.Arg1336=) | |
| 7 | g.73442811C>G | CA455853038 | BAZ1B | c.4008G>C (p.Arg1336=) | |
| 7 | g.73442811C>T | CA455853039 | BAZ1B | c.4008G>A (p.Arg1336=) | |
| 7 | g.73442812C>A | CA367788969 | BAZ1B | c.4007G>T (p.Arg1336Leu) | |
| 7 | g.73442812C= | CA1717047305 | BAZ1B | c.4007G= (p.Arg1336=) | |
| 7 | g.73442812C>G | CA367788970 | BAZ1B | c.4007G>C (p.Arg1336Pro) | |
| 7 | g.73442812C>T | CA4287302 | BAZ1B | c.4007G>A (p.Arg1336Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.73442813G>A | CA367788975 | BAZ1B | c.4006C>T (p.Arg1336Trp) | dbSNP gnomAD v4 |
| 7 | g.73442813G>C | CA367788979 | BAZ1B | c.4006C>G (p.Arg1336Gly) | |
| 7 | g.73442813G>T | CA455853043 | BAZ1B | c.4006C>A (p.Arg1336=) | gnomAD v4 |
| 7 | g.73442814C>A | CA367788988 | BAZ1B | c.4005G>T (p.Lys1335Asn) | |
| 7 | g.73442814C= | CA1717047306 | BAZ1B | c.4005G= (p.Lys1335=) | |
| 7 | g.73442814C>G | CA367789022 | BAZ1B | c.4005G>C (p.Lys1335Asn) | |
| 7 | g.73442814C>T | CA455853046 | BAZ1B | c.4005G>A (p.Lys1335=) | dbSNP gnomAD v4 |
| 7 | g.73442815T>A | CA367789026 | BAZ1B | c.4004A>T (p.Lys1335Met) | |
| 7 | g.73442815T>C | CA367789027 | BAZ1B | c.4004A>G (p.Lys1335Arg) | dbSNP gnomAD v4 |
| 7 | g.73442815T>G | CA367789028 | BAZ1B | c.4004A>C (p.Lys1335Thr) | |
| 7 | g.73442815T= | CA1717047307 | BAZ1B | c.4004A= (p.Lys1335=) | |
| 7 | g.73442816T>A | CA367789029 | BAZ1B | c.4003A>T (p.Lys1335Ter) | |
| 7 | g.73442816T>C | CA367789031 | BAZ1B | c.4003A>G (p.Lys1335Glu) | |
| 7 | g.73442816T>G | CA367789036 | BAZ1B | c.4003A>C (p.Lys1335Gln) | |
| 7 | g.73442817G>A | CA455853063 | BAZ1B | c.4002C>T (p.Thr1334=) | |
| 7 | g.73442817G>C | CA455853070 | BAZ1B | c.4002C>G (p.Thr1334=) | |
| 7 | g.73442817G= | CA1717047308 | BAZ1B | c.4002C= (p.Thr1334=) | |
| 7 | g.73442817G>T | CA4287303 | BAZ1B | c.4002C>A (p.Thr1334=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.73442818G>A | CA4287304 | BAZ1B | c.4001C>T (p.Thr1334Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.73442818G>C | CA367789050 | BAZ1B | c.4001C>G (p.Thr1334Ser) | |
| 7 | g.73442818G= | CA1717047309 | BAZ1B | c.4001C= (p.Thr1334=) | |
| 7 | g.73442818G>T | CA367789056 | BAZ1B | c.4001C>A (p.Thr1334Asn) | dbSNP gnomAD v4 |
| 7 | g.73442819T>A | CA367789058 | BAZ1B | c.4000A>T (p.Thr1334Ser) | |
| 7 | g.73442819T>C | CA367789059 | BAZ1B | c.4000A>G (p.Thr1334Ala) | |
| 7 | g.73442819T>G | CA367789063 | BAZ1B | c.4000A>C (p.Thr1334Pro) | |
| 7 | g.73442820C>A | CA367789066 | BAZ1B | c.3999G>T (p.Gln1333His) | |
| 7 | g.73442820C= | CA1717047310 | BAZ1B | c.3999G= (p.Gln1333=) | |
| 7 | g.73442820C>G | CA4287305 | BAZ1B | c.3999G>C (p.Gln1333His) | dbSNP ExAC gnomAD v2 |
| 7 | g.73442820C>T | CA455853085 | BAZ1B | c.3999G>A (p.Gln1333=) | |
| 7 | g.73442821T>A | CA367789084 | BAZ1B | c.3998A>T (p.Gln1333Leu) | |
| 7 | g.73442821T>C | CA367789080 | BAZ1B | c.3998A>G (p.Gln1333Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.73442821T>G | CA367789074 | BAZ1B | c.3998A>C (p.Gln1333Pro) | |
| 7 | g.73442821T= | CA1717047311 | BAZ1B | c.3998A= (p.Gln1333=) | |
| 7 | g.73442822G>A | CA367789092 | BAZ1B | c.3997C>T (p.Gln1333Ter) | |
| 7 | g.73442822G>C | CA367789095 | BAZ1B | c.3997C>G (p.Gln1333Glu) | |
| 7 | g.73442822G>T | CA367789099 | BAZ1B | c.3997C>A (p.Gln1333Lys) | |
| 7 | g.73442823A>C | CA455853103 | BAZ1B | c.3996T>G (p.Leu1332=) | |
| 7 | g.73442823A>G | CA455853105 | BAZ1B | c.3996T>C (p.Leu1332=) | |
| 7 | g.73442823A>T | CA455853112 | BAZ1B | c.3996T>A (p.Leu1332=) |