Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.154571418C>A | CA342630432 | CHRNB2 | c.595C>A (p.Pro199Thr) c.601C>A (p.Pro201Thr) c.85C>A (p.Pro29Thr) n.847C>A | |
1 | g.154571418C>G | CA342630433 | CHRNB2 | c.595C>G (p.Pro199Ala) c.601C>G (p.Pro201Ala) c.85C>G (p.Pro29Ala) n.847C>G | |
1 | g.154571418C>T | CA342630434 | CHRNB2 | c.595C>T (p.Pro199Ser) c.601C>T (p.Pro201Ser) c.85C>T (p.Pro29Ser) n.847C>T | |
1 | g.154571419C>A | CA342630436 | CHRNB2 | c.596C>A (p.Pro199His) c.602C>A (p.Pro201His) c.86C>A (p.Pro29His) n.848C>A | |
1 | g.154571419C>G | CA342630437 | CHRNB2 | c.596C>G (p.Pro199Arg) c.602C>G (p.Pro201Arg) c.86C>G (p.Pro29Arg) n.848C>G | |
1 | g.154571419C>T | CA342630435 | CHRNB2 | c.596C>T (p.Pro199Leu) c.602C>T (p.Pro201Leu) c.86C>T (p.Pro29Leu) n.848C>T | |
1 | g.154571420T>A | CA421231061 | CHRNB2 | c.597T>A (p.Pro199=) c.603T>A (p.Pro201=) c.87T>A (p.Pro29=) n.849T>A | |
1 | g.154571420T>C | CA421231063 | CHRNB2 | c.597T>C (p.Pro199=) c.603T>C (p.Pro201=) c.87T>C (p.Pro29=) n.849T>C | |
1 | g.154571420T>G | CA421231064 | CHRNB2 | c.597T>G (p.Pro199=) c.603T>G (p.Pro201=) c.87T>G (p.Pro29=) n.849T>G | |
1 | g.154571421A>C | CA342630438 | CHRNB2 | c.598A>C (p.Ser200Arg) c.604A>C (p.Ser202Arg) c.88A>C (p.Ser30Arg) n.850A>C | |
1 | g.154571421A>G | CA342630439 | CHRNB2 | c.598A>G (p.Ser200Gly) c.604A>G (p.Ser202Gly) c.88A>G (p.Ser30Gly) n.850A>G | |
1 | g.154571421A>T | CA342630440 | CHRNB2 | c.598A>T (p.Ser200Cys) c.604A>T (p.Ser202Cys) c.88A>T (p.Ser30Cys) n.850A>T | |
1 | g.154571422G>A | CA342630441 | CHRNB2 | c.599G>A (p.Ser200Asn) c.605G>A (p.Ser202Asn) c.89G>A (p.Ser30Asn) n.851G>A | ClinVar dbSNP gnomAD v4 |
1 | g.154571422G>C | CA1130747 | CHRNB2 | c.599G>C (p.Ser200Thr) c.605G>C (p.Ser202Thr) c.89G>C (p.Ser30Thr) n.851G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571422G= | CA2480925249 | CHRNB2 | c.599G= (p.Ser200=) c.605G= (p.Ser202=) c.89G= (p.Ser30=) n.851G= | |
1 | g.154571422G>T | CA342630442 | CHRNB2 | c.599G>T (p.Ser200Ile) c.605G>T (p.Ser202Ile) c.89G>T (p.Ser30Ile) n.851G>T | |
1 | g.154571423T>A | CA342630444 | CHRNB2 | c.600T>A (p.Ser200Arg) c.606T>A (p.Ser202Arg) c.90T>A (p.Ser30Arg) n.852T>A | |
1 | g.154571423T>C | CA421231071 | CHRNB2 | c.600T>C (p.Ser200=) c.606T>C (p.Ser202=) c.90T>C (p.Ser30=) n.852T>C | dbSNP gnomAD v4 |
1 | g.154571423T>G | CA342630443 | CHRNB2 | c.600T>G (p.Ser200Arg) c.606T>G (p.Ser202Arg) c.90T>G (p.Ser30Arg) n.852T>G | |
1 | g.154571424G>A | CA342630445 | CHRNB2 | c.601G>A (p.Gly201Ser) c.607G>A (p.Gly203Ser) c.91G>A (p.Gly31Ser) n.853G>A | |
1 | g.154571424G>C | CA342630446 | CHRNB2 | c.601G>C (p.Gly201Arg) c.607G>C (p.Gly203Arg) c.91G>C (p.Gly31Arg) n.853G>C | |
1 | g.154571424G>T | CA342630447 | CHRNB2 | c.601G>T (p.Gly201Cys) c.607G>T (p.Gly203Cys) c.91G>T (p.Gly31Cys) n.853G>T | |
1 | g.154571425G>A | CA1130748 | CHRNB2 | c.602G>A (p.Gly201Asp) c.608G>A (p.Gly203Asp) c.92G>A (p.Gly31Asp) n.854G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571425G>C | CA342630448 | CHRNB2 | c.602G>C (p.Gly201Ala) c.608G>C (p.Gly203Ala) c.92G>C (p.Gly31Ala) n.854G>C | |
1 | g.154571425G= | CA2480925250 | CHRNB2 | c.602G= (p.Gly201=) c.608G= (p.Gly203=) c.92G= (p.Gly31=) n.854G= | |
1 | g.154571425G>T | CA342630449 | CHRNB2 | c.602G>T (p.Gly201Val) c.608G>T (p.Gly203Val) c.92G>T (p.Gly31Val) n.854G>T | |
1 | g.154571426T>A | CA421231078 | CHRNB2 | c.603T>A (p.Gly201=) c.609T>A (p.Gly203=) c.93T>A (p.Gly31=) n.855T>A | |
1 | g.154571426T>C | CA421231081 | CHRNB2 | c.603T>C (p.Gly201=) c.609T>C (p.Gly203=) c.93T>C (p.Gly31=) n.855T>C | COSMIC |
1 | g.154571426T>G | CA421231082 | CHRNB2 | c.603T>G (p.Gly201=) c.609T>G (p.Gly203=) c.93T>G (p.Gly31=) n.855T>G | |
1 | g.154571427G>A | CA342630452 | CHRNB2 | c.604G>A (p.Glu202Lys) c.610G>A (p.Glu204Lys) c.94G>A (p.Glu32Lys) n.856G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571427G>C | CA342630451 | CHRNB2 | c.604G>C (p.Glu202Gln) c.610G>C (p.Glu204Gln) c.94G>C (p.Glu32Gln) n.856G>C | |
1 | g.154571427G= | CA2480925251 | CHRNB2 | c.604G= (p.Glu202=) c.610G= (p.Glu204=) c.94G= (p.Glu32=) n.856G= | |
1 | g.154571427G>T | CA342630450 | CHRNB2 | c.604G>T (p.Glu202Ter) c.610G>T (p.Glu204Ter) c.94G>T (p.Glu32Ter) n.856G>T | |
1 | g.154571428A>C | CA342630453 | CHRNB2 | c.605A>C (p.Glu202Ala) c.611A>C (p.Glu204Ala) c.95A>C (p.Glu32Ala) n.857A>C | |
1 | g.154571428A>G | CA342630455 | CHRNB2 | c.605A>G (p.Glu202Gly) c.611A>G (p.Glu204Gly) c.95A>G (p.Glu32Gly) n.857A>G | gnomAD v4 |
1 | g.154571428A>T | CA342630454 | CHRNB2 | c.605A>T (p.Glu202Val) c.611A>T (p.Glu204Val) c.95A>T (p.Glu32Val) n.857A>T | |
1 | g.154571429G>A | CA421231083 | CHRNB2 | c.606G>A (p.Glu202=) c.612G>A (p.Glu204=) c.96G>A (p.Glu32=) n.858G>A | |
1 | g.154571429G>C | CA342630456 | CHRNB2 | c.606G>C (p.Glu202Asp) c.612G>C (p.Glu204Asp) c.96G>C (p.Glu32Asp) n.858G>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154571429G= | CA2480925252 | CHRNB2 | c.606G= (p.Glu202=) c.612G= (p.Glu204=) c.96G= (p.Glu32=) n.858G= | |
1 | g.154571429G>T | CA342630457 | CHRNB2 | c.606G>T (p.Glu202Asp) c.612G>T (p.Glu204Asp) c.96G>T (p.Glu32Asp) n.858G>T | |
1 | g.154571430T>A | CA342630458 | CHRNB2 | c.607T>A (p.Trp203Arg) c.613T>A (p.Trp205Arg) c.97T>A (p.Trp33Arg) n.859T>A | |
1 | g.154571430T>C | CA342630460 | CHRNB2 | c.607T>C (p.Trp203Arg) c.613T>C (p.Trp205Arg) c.97T>C (p.Trp33Arg) n.859T>C | |
1 | g.154571430T>G | CA342630459 | CHRNB2 | c.607T>G (p.Trp203Gly) c.613T>G (p.Trp205Gly) c.97T>G (p.Trp33Gly) n.859T>G | |
1 | g.154571431G>A | CA342630461 | CHRNB2 | c.608G>A (p.Trp203Ter) c.614G>A (p.Trp205Ter) c.98G>A (p.Trp33Ter) n.860G>A | gnomAD v4 |
1 | g.154571431G>C | CA342630462 | CHRNB2 | c.608G>C (p.Trp203Ser) c.614G>C (p.Trp205Ser) c.98G>C (p.Trp33Ser) n.860G>C | |
1 | g.154571431G>T | CA342630463 | CHRNB2 | c.608G>T (p.Trp203Leu) c.614G>T (p.Trp205Leu) c.98G>T (p.Trp33Leu) n.860G>T | |
1 | g.154571432G>A | CA342630464 | CHRNB2 | c.609G>A (p.Trp203Ter) c.615G>A (p.Trp205Ter) c.99G>A (p.Trp33Ter) n.861G>A | |
1 | g.154571432G>C | CA342630465 | CHRNB2 | c.609G>C (p.Trp203Cys) c.615G>C (p.Trp205Cys) c.99G>C (p.Trp33Cys) n.861G>C | |
1 | g.154571432G>T | CA342630466 | CHRNB2 | c.609G>T (p.Trp203Cys) c.615G>T (p.Trp205Cys) c.99G>T (p.Trp33Cys) n.861G>T | |
1 | g.154571433G>A | CA342630467 | CHRNB2 | c.610G>A (p.Asp204Asn) c.616G>A (p.Asp206Asn) c.100G>A (p.Asp34Asn) n.862G>A |