| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.73442719A= | CA1717047266 | BAZ1B | c.4094+6T= (n.4094+6T=) | |
| 7 | g.73442719A>C | CA2580594674 | BAZ1B | c.4094+6T>G (n.4094+6T>G) | |
| 7 | g.73442719A>G | CA4287279 | BAZ1B | c.4094+6T>C (n.4094+6T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.73442719A>T | CA2580594675 | BAZ1B | c.4094+6T>A (n.4094+6T>A) | |
| 7 | g.73442720C= | CA1717047267 | BAZ1B | c.4094+5G= (n.4094+5G=) | |
| 7 | g.73442720C>T | CA842016635 | BAZ1B | c.4094+5G>A (n.4094+5G>A) | dbSNP gnomAD v4 |
| 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) |