Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.27963695_27963698del | CA2697559144 | PTHLH | c.178_181del (p.Leu60ThrfsTer3) c.202_205del (p.Leu68ThrfsTer3) | ClinVar |
12 | g.27963693A= | CA2024096940 | PTHLH | c.179T= (p.Leu60=) c.203T= (p.Leu68=) | |
12 | g.27963693A>C | CA384339473 | PTHLH | c.179T>G (p.Leu60Arg) c.203T>G (p.Leu68Arg) | |
12 | g.27963693A>G | CA123415 | PTHLH | c.179T>C (p.Leu60Pro) c.203T>C (p.Leu68Pro) | ClinVar dbSNP |
12 | g.27963693A>T | CA384339474 | PTHLH | c.179T>A (p.Leu60His) c.203T>A (p.Leu68His) | |
12 | g.27963694G>A | CA384339475 | PTHLH | c.178C>T (p.Leu60Phe) c.202C>T (p.Leu68Phe) | |
12 | g.27963694G>C | CA384339476 | PTHLH | c.178C>G (p.Leu60Val) c.202C>G (p.Leu68Val) | |
12 | g.27963694G>T | CA384339477 | PTHLH | c.178C>A (p.Leu60Ile) c.202C>A (p.Leu68Ile) | |
12 | g.27963695G>A | CA479080453 | PTHLH | c.177C>T (p.Phe59=) c.201C>T (p.Phe67=) | |
12 | g.27963695G>C | CA384339478 | PTHLH | c.177C>G (p.Phe59Leu) c.201C>G (p.Phe67Leu) | |
12 | g.27963695G>T | CA384339479 | PTHLH | c.177C>A (p.Phe59Leu) c.201C>A (p.Phe67Leu) | gnomAD v4 COSMIC COSMIC |
12 | g.27963696A>C | CA384339480 | PTHLH | c.176T>G (p.Phe59Cys) c.200T>G (p.Phe67Cys) | |
12 | g.27963696A>G | CA384339481 | PTHLH | c.176T>C (p.Phe59Ser) c.200T>C (p.Phe67Ser) | |
12 | g.27963696A>T | CA384339482 | PTHLH | c.176T>A (p.Phe59Tyr) c.200T>A (p.Phe67Tyr) | |
12 | g.27963697A>C | CA384339485 | PTHLH | c.175T>G (p.Phe59Val) c.199T>G (p.Phe67Val) | |
12 | g.27963697A>G | CA384339483 | PTHLH | c.175T>C (p.Phe59Leu) c.199T>C (p.Phe67Leu) | |
12 | g.27963697A>T | CA384339484 | PTHLH | c.175T>A (p.Phe59Ile) c.199T>A (p.Phe67Ile) | |
12 | g.27963698G>A | CA479080455 | PTHLH | c.174C>T (p.Phe58=) c.198C>T (p.Phe66=) | gnomAD v4 |
12 | g.27963698G>C | CA384339486 | PTHLH | c.174C>G (p.Phe58Leu) c.198C>G (p.Phe66Leu) | |
12 | g.27963698G>T | CA384339487 | PTHLH | c.174C>A (p.Phe58Leu) c.198C>A (p.Phe66Leu) | |
12 | g.27963699A>C | CA384339488 | PTHLH | c.173T>G (p.Phe58Cys) c.197T>G (p.Phe66Cys) | |
12 | g.27963699A>G | CA384339489 | PTHLH | c.173T>C (p.Phe58Ser) c.197T>C (p.Phe66Ser) | gnomAD v4 |
12 | g.27963699A>T | CA384339490 | PTHLH | c.173T>A (p.Phe58Tyr) c.197T>A (p.Phe66Tyr) | |
12 | g.27963700A>C | CA384339491 | PTHLH | c.172T>G (p.Phe58Val) c.196T>G (p.Phe66Val) | |
12 | g.27963700A>G | CA384339492 | PTHLH | c.172T>C (p.Phe58Leu) c.196T>C (p.Phe66Leu) | |
12 | g.27963700A>T | CA384339493 | PTHLH | c.172T>A (p.Phe58Ile) c.196T>A (p.Phe66Ile) | |
12 | g.27963701T>A | CA479080457 | PTHLH | c.171A>T (p.Arg57=) c.195A>T (p.Arg65=) | |
12 | g.27963701T>C | CA479080458 | PTHLH | c.171A>G (p.Arg57=) c.195A>G (p.Arg65=) | gnomAD v4 |
12 | g.27963701T>G | CA479080459 | PTHLH | c.171A>C (p.Arg57=) c.195A>C (p.Arg65=) | |
12 | g.27963702C>A | CA384339494 | PTHLH | c.170G>T (p.Arg57Leu) c.194G>T (p.Arg65Leu) | |
12 | g.27963702C= | CA2024096946 | PTHLH | c.170G= (p.Arg57=) c.194G= (p.Arg65=) | |
12 | g.27963702C>G | CA384339495 | PTHLH | c.170G>C (p.Arg57Pro) c.194G>C (p.Arg65Pro) | |
12 | g.27963702C>T | CA384339496 | PTHLH | c.170G>A (p.Arg57Gln) c.194G>A (p.Arg65Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.27963703G>A | CA384339497 | PTHLH | c.169C>T (p.Arg57Ter) c.193C>T (p.Arg65Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.27963703G>C | CA384339498 | PTHLH | c.169C>G (p.Arg57Gly) c.193C>G (p.Arg65Gly) | |
12 | g.27963703G= | CA2024096953 | PTHLH | c.169C= (p.Arg57=) c.193C= (p.Arg65=) | |
12 | g.27963703G>T | CA479080460 | PTHLH | c.169C>A (p.Arg57=) c.193C>A (p.Arg65=) | |
12 | g.27963704T>A | CA479080461 | PTHLH | c.168A>T (p.Arg56=) c.192A>T (p.Arg64=) | |
12 | g.27963704T>C | CA479080462 | PTHLH | c.168A>G (p.Arg56=) c.192A>G (p.Arg64=) | gnomAD v4 COSMIC COSMIC |
12 | g.27963704T>G | CA479080463 | PTHLH | c.168A>C (p.Arg56=) c.192A>C (p.Arg64=) | |
12 | g.27963705C>A | CA384339499 | PTHLH | c.167G>T (p.Arg56Leu) c.191G>T (p.Arg64Leu) | |
12 | g.27963705C= | CA2024096956 | PTHLH | c.167G= (p.Arg56=) c.191G= (p.Arg64=) | |
12 | g.27963705C>G | CA384339500 | PTHLH | c.167G>C (p.Arg56Pro) c.191G>C (p.Arg64Pro) | |
12 | g.27963705C>T | CA234898716 | PTHLH | c.167G>A (p.Arg56Gln) c.191G>A (p.Arg64Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.27963706G>A | CA384339501 | PTHLH | c.166C>T (p.Arg56Ter) c.190C>T (p.Arg64Ter) | COSMIC |
12 | g.27963706G>C | CA384339502 | PTHLH | c.166C>G (p.Arg56Gly) c.190C>G (p.Arg64Gly) | |
12 | g.27963706G>T | CA479080464 | PTHLH | c.166C>A (p.Arg56=) c.190C>A (p.Arg64=) | |
12 | g.27963707C>A | CA479080465 | PTHLH | c.165G>T (p.Arg55=) c.189G>T (p.Arg63=) | |
12 | g.27963707C>G | CA479080466 | PTHLH | c.165G>C (p.Arg55=) c.189G>C (p.Arg63=) | |
12 | g.27963707C>T | CA479080467 | PTHLH | c.165G>A (p.Arg55=) c.189G>A (p.Arg63=) |