Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.121859128_121859212del | CA1067460730 | BBS7 | c.342-29_397del n.177-29_232del | gnomAD v3 gnomAD v4 |
4 | g.121859129_121859131delinsGGT | CA1490028078 | BBS7 | c.389_391delinsACC (p.Asn130=) n.224_226delinsACC | |
4 | g.121859130G>A | CA440912041 | BBS7 | c.390C>T (p.Asn130=) n.225C>T | |
4 | g.121859130G>C | CA358043326 | BBS7 | c.390C>G (p.Asn130Lys) n.225C>G | |
4 | g.121859130G>T | CA358043329 | BBS7 | c.390C>A (p.Asn130Lys) n.225C>A | gnomAD v4 |
4 | g.121859130_121859131del | CA339158 | BBS7 | c.389_390del (p.Asn130ThrfsTer4) n.224_225del | ClinVar dbSNP |
4 | g.121859131T>A | CA358043330 | BBS7 | c.389A>T (p.Asn130Ile) n.224A>T | |
4 | g.121859131T>C | CA358043333 | BBS7 | c.389A>G (p.Asn130Ser) n.224A>G | |
4 | g.121859131T>G | CA358043332 | BBS7 | c.389A>C (p.Asn130Thr) n.224A>C | ClinVar dbSNP |
4 | g.121859132T>A | CA358043335 | BBS7 | c.388A>T (p.Asn130Tyr) n.223A>T | |
4 | g.121859132T>C | CA358043337 | BBS7 | c.388A>G (p.Asn130Asp) n.223A>G | |
4 | g.121859132T>G | CA358043339 | BBS7 | c.388A>C (p.Asn130His) n.223A>C | |
4 | g.121859133A>C | CA358043340 | BBS7 | c.387T>G (p.Tyr129Ter) n.222T>G | dbSNP |
4 | g.121859133A>G | CA440912042 | BBS7 | c.387T>C (p.Tyr129=) n.222T>C | |
4 | g.121859133A>T | CA358043341 | BBS7 | c.387T>A (p.Tyr129Ter) n.222T>A | |
4 | g.121859134T>A | CA358043343 | BBS7 | c.386A>T (p.Tyr129Phe) n.221A>T | |
4 | g.121859134T>C | CA3064519 | BBS7 | c.386A>G (p.Tyr129Cys) n.221A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.121859134T>G | CA358043346 | BBS7 | c.386A>C (p.Tyr129Ser) n.221A>C | |
4 | g.121859134T= | CA1490028079 | BBS7 | c.386A= (p.Tyr129=) n.221A= | |
4 | g.121859134dup | CA2580071443 | BBS7 | c.386dup (p.Tyr129Ter) n.221dup | ClinVar |
4 | g.121859135A>C | CA358043347 | BBS7 | c.385T>G (p.Tyr129Asp) n.220T>G | |
4 | g.121859135A>G | CA358043348 | BBS7 | c.385T>C (p.Tyr129His) n.220T>C | |
4 | g.121859135A>T | CA358043350 | BBS7 | c.385T>A (p.Tyr129Asn) n.220T>A | |
4 | g.121859136G>A | CA440912043 | BBS7 | c.384C>T (p.Ile128=) n.219C>T | |
4 | g.121859136G>C | CA358043352 | BBS7 | c.384C>G (p.Ile128Met) n.219C>G | |
4 | g.121859136G>T | CA440912044 | BBS7 | c.384C>A (p.Ile128=) n.219C>A | |
4 | g.121859137A>C | CA358043355 | BBS7 | c.383T>G (p.Ile128Ser) n.218T>G | |
4 | g.121859137A>G | CA358043354 | BBS7 | c.383T>C (p.Ile128Thr) n.218T>C | gnomAD v4 |
4 | g.121859137A>T | CA358043353 | BBS7 | c.383T>A (p.Ile128Asn) n.218T>A | |
4 | g.121859138T>A | CA358043357 | BBS7 | c.382A>T (p.Ile128Phe) n.217A>T | |
4 | g.121859138T>C | CA358043359 | BBS7 | c.382A>G (p.Ile128Val) n.217A>G | |
4 | g.121859138T>G | CA358043360 | BBS7 | c.382A>C (p.Ile128Leu) n.217A>C | |
4 | g.121859139G>A | CA440912045 | BBS7 | c.381C>T (p.Tyr127=) n.216C>T | ClinVar gnomAD v4 |
4 | g.121859139G>C | CA358043362 | BBS7 | c.381C>G (p.Tyr127Ter) n.216C>G | |
4 | g.121859139G>T | CA358043364 | BBS7 | c.381C>A (p.Tyr127Ter) n.216C>A | |
4 | g.121859140T>A | CA358043366 | BBS7 | c.380A>T (p.Tyr127Phe) n.215A>T | |
4 | g.121859140T>C | CA358043367 | BBS7 | c.380A>G (p.Tyr127Cys) n.215A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121859140T>G | CA358043369 | BBS7 | c.380A>C (p.Tyr127Ser) n.215A>C | |
4 | g.121859140T= | CA1490028081 | BBS7 | c.380A= (p.Tyr127=) n.215A= | |
4 | g.121859140_121859141delinsTA | CA1490028080 | BBS7 | c.379_380delinsTA (p.Tyr127=) n.214_215delinsTA | |
4 | g.121859141A>C | CA358043371 | BBS7 | c.379T>G (p.Tyr127Asp) n.214T>G | ClinVar dbSNP |
4 | g.121859141A>G | CA358043373 | BBS7 | c.379T>C (p.Tyr127His) n.214T>C | |
4 | g.121859141A>T | CA358043374 | BBS7 | c.379T>A (p.Tyr127Asn) n.214T>A | |
4 | g.121859142del | CA554524345 | BBS7 | c.379del (p.Tyr127ThrfsTer24) n.214del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121859142A>C | CA358043376 | BBS7 | c.378T>G (p.Ser126Arg) n.213T>G | |
4 | g.121859142A>G | CA440912046 | BBS7 | c.378T>C (p.Ser126=) n.213T>C | |
4 | g.121859142A>T | CA358043377 | BBS7 | c.378T>A (p.Ser126Arg) n.213T>A | |
4 | g.121859143C>A | CA358043380 | BBS7 | c.377G>T (p.Ser126Ile) n.212G>T | |
4 | g.121859143C>G | CA358043382 | BBS7 | c.377G>C (p.Ser126Thr) n.212G>C | |
4 | g.121859143C>T | CA358043378 | BBS7 | c.377G>A (p.Ser126Asn) n.212G>A |