Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
1 | g.154571433G>C | CA342630468 | CHRNB2 | c.610G>C (p.Asp204His) c.616G>C (p.Asp206His) c.100G>C (p.Asp34His) n.862G>C | |
1 | g.154571433G>T | CA342630469 | CHRNB2 | c.610G>T (p.Asp204Tyr) c.616G>T (p.Asp206Tyr) c.100G>T (p.Asp34Tyr) n.862G>T | |
1 | g.154571434A>C | CA342630470 | CHRNB2 | c.611A>C (p.Asp204Ala) c.617A>C (p.Asp206Ala) c.101A>C (p.Asp34Ala) n.863A>C | |
1 | g.154571434A>G | CA342630471 | CHRNB2 | c.611A>G (p.Asp204Gly) c.617A>G (p.Asp206Gly) c.101A>G (p.Asp34Gly) n.863A>G | |
1 | g.154571434A>T | CA342630472 | CHRNB2 | c.611A>T (p.Asp204Val) c.617A>T (p.Asp206Val) c.101A>T (p.Asp34Val) n.863A>T | |
1 | g.154571435C>A | CA342630474 | CHRNB2 | c.612C>A (p.Asp204Glu) c.618C>A (p.Asp206Glu) c.102C>A (p.Asp34Glu) n.864C>A | |
1 | g.154571435C>G | CA342630473 | CHRNB2 | c.612C>G (p.Asp204Glu) c.618C>G (p.Asp206Glu) c.102C>G (p.Asp34Glu) n.864C>G | |
1 | g.154571435C>T | CA421231102 | CHRNB2 | c.612C>T (p.Asp204=) c.618C>T (p.Asp206=) c.102C>T (p.Asp34=) n.864C>T | |
1 | g.154571436A= | CA1147397697 | CHRNB2 | c.613A= (p.Ile205=) c.619A= (p.Ile207=) c.103A= (p.Ile35=) n.865A= | |
1 | g.154571436A>C | CA342630475 | CHRNB2 | c.613A>C (p.Ile205Leu) c.619A>C (p.Ile207Leu) c.103A>C (p.Ile35Leu) n.865A>C | |
1 | g.154571436A>G | CA1130749 | CHRNB2 | c.613A>G (p.Ile205Val) c.619A>G (p.Ile207Val) c.103A>G (p.Ile35Val) n.865A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571436A>T | CA342630476 | CHRNB2 | c.613A>T (p.Ile205Phe) c.619A>T (p.Ile207Phe) c.103A>T (p.Ile35Phe) n.865A>T | |
1 | g.154571437T>A | CA342630477 | CHRNB2 | c.614T>A (p.Ile205Asn) c.620T>A (p.Ile207Asn) c.104T>A (p.Ile35Asn) n.866T>A | gnomAD v4 |
1 | g.154571437T>C | CA342630478 | CHRNB2 | c.614T>C (p.Ile205Thr) c.620T>C (p.Ile207Thr) c.104T>C (p.Ile35Thr) n.866T>C | |
1 | g.154571437T>G | CA342630479 | CHRNB2 | c.614T>G (p.Ile205Ser) c.620T>G (p.Ile207Ser) c.104T>G (p.Ile35Ser) n.866T>G | |
1 | g.154571438C>A | CA421231122 | CHRNB2 | c.615C>A (p.Ile205=) c.621C>A (p.Ile207=) c.105C>A (p.Ile35=) n.867C>A | |
1 | g.154571438C= | CA1143535426 | CHRNB2 | c.615C= (p.Ile205=) c.621C= (p.Ile207=) c.105C= (p.Ile35=) n.867C= | |
1 | g.154571438C>G | CA30834237 | CHRNB2 | c.615C>G (p.Ile205Met) c.621C>G (p.Ile207Met) c.105C>G (p.Ile35Met) n.867C>G | dbSNP gnomAD v4 |
1 | g.154571438C>T | CA1130750 | CHRNB2 | c.615C>T (p.Ile205=) c.621C>T (p.Ile207=) c.105C>T (p.Ile35=) n.867C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571439G>A | CA342630480 | CHRNB2 | c.616G>A (p.Val206Met) c.622G>A (p.Val208Met) c.106G>A (p.Val36Met) n.868G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.154571439G>C | CA342630481 | CHRNB2 | c.616G>C (p.Val206Leu) c.622G>C (p.Val208Leu) c.106G>C (p.Val36Leu) n.868G>C | |
1 | g.154571439G= | CA2480925253 | CHRNB2 | c.616G= (p.Val206=) c.622G= (p.Val208=) c.106G= (p.Val36=) n.868G= | |
1 | g.154571439G>T | CA342630482 | CHRNB2 | c.616G>T (p.Val206Leu) c.622G>T (p.Val208Leu) c.106G>T (p.Val36Leu) n.868G>T | |
1 | g.154571440T>A | CA342630485 | CHRNB2 | c.617T>A (p.Val206Glu) c.623T>A (p.Val208Glu) c.107T>A (p.Val36Glu) n.869T>A | |
1 | g.154571440T>C | CA342630484 | CHRNB2 | c.617T>C (p.Val206Ala) c.623T>C (p.Val208Ala) c.107T>C (p.Val36Ala) n.869T>C | |
1 | g.154571440T>G | CA342630483 | CHRNB2 | c.617T>G (p.Val206Gly) c.623T>G (p.Val208Gly) c.107T>G (p.Val36Gly) n.869T>G | |
1 | g.154571441G>A | CA421231128 | CHRNB2 | c.618G>A (p.Val206=) c.624G>A (p.Val208=) c.108G>A (p.Val36=) n.870G>A | |
1 | g.154571441G>C | CA421231129 | CHRNB2 | c.618G>C (p.Val206=) c.624G>C (p.Val208=) c.108G>C (p.Val36=) n.870G>C | |
1 | g.154571441G>T | CA421231130 | CHRNB2 | c.618G>T (p.Val206=) c.624G>T (p.Val208=) c.108G>T (p.Val36=) n.870G>T | |
1 | g.154571442G>A | CA342630486 | CHRNB2 | c.619G>A (p.Ala207Thr) c.625G>A (p.Ala209Thr) c.109G>A (p.Ala37Thr) n.871G>A | |
1 | g.154571442G>C | CA342630487 | CHRNB2 | c.619G>C (p.Ala207Pro) c.625G>C (p.Ala209Pro) c.109G>C (p.Ala37Pro) n.871G>C | |
1 | g.154571442G>T | CA342630488 | CHRNB2 | c.619G>T (p.Ala207Ser) c.625G>T (p.Ala209Ser) c.109G>T (p.Ala37Ser) n.871G>T | |
1 | g.154571443C>A | CA342630489 | CHRNB2 | c.620C>A (p.Ala207Glu) c.626C>A (p.Ala209Glu) c.110C>A (p.Ala37Glu) n.872C>A | |
1 | g.154571443C= | CA1143494582 | CHRNB2 | c.620C= (p.Ala207=) c.626C= (p.Ala209=) c.110C= (p.Ala37=) n.872C= | |
1 | g.154571443C>G | CA313653 | CHRNB2 | c.620C>G (p.Ala207Gly) c.626C>G (p.Ala209Gly) c.110C>G (p.Ala37Gly) n.872C>G | ClinVar dbSNP |
1 | g.154571443C>T | CA1130751 | CHRNB2 | c.620C>T (p.Ala207Val) c.626C>T (p.Ala209Val) c.110C>T (p.Ala37Val) n.872C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.154571444G>A | CA421231137 | CHRNB2 | c.621G>A (p.Ala207=) c.627G>A (p.Ala209=) c.111G>A (p.Ala37=) n.873G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571444G>C | CA421231135 | CHRNB2 | c.621G>C (p.Ala207=) c.627G>C (p.Ala209=) c.111G>C (p.Ala37=) n.873G>C | |
1 | g.154571444G= | CA2480925254 | CHRNB2 | c.621G= (p.Ala207=) c.627G= (p.Ala209=) c.111G= (p.Ala37=) n.873G= | |
1 | g.154571444G>T | CA421231136 | CHRNB2 | c.621G>T (p.Ala207=) c.627G>T (p.Ala209=) c.111G>T (p.Ala37=) n.873G>T | |
1 | g.154571445C>A | CA342630490 | CHRNB2 | c.622C>A (p.Leu208Met) c.628C>A (p.Leu210Met) c.112C>A (p.Leu38Met) n.874C>A | |
1 | g.154571445C= | CA2480925255 | CHRNB2 | c.622C= (p.Leu208=) c.628C= (p.Leu210=) c.112C= (p.Leu38=) n.874C= | |
1 | g.154571445C>G | CA342630491 | CHRNB2 | c.622C>G (p.Leu208Val) c.628C>G (p.Leu210Val) c.112C>G (p.Leu38Val) n.874C>G | |
1 | g.154571445C>T | CA30834260 | CHRNB2 | c.622C>T (p.Leu208=) c.628C>T (p.Leu210=) c.112C>T (p.Leu38=) n.874C>T | ClinVar dbSNP gnomAD v4 |
1 | g.154571446T>A | CA342630492 | CHRNB2 | c.623T>A (p.Leu208Gln) c.629T>A (p.Leu210Gln) c.113T>A (p.Leu38Gln) n.875T>A | |
1 | g.154571446T>C | CA342630493 | CHRNB2 | c.623T>C (p.Leu208Pro) c.629T>C (p.Leu210Pro) c.113T>C (p.Leu38Pro) n.875T>C | |
1 | g.154571446T>G | CA342630494 | CHRNB2 | c.623T>G (p.Leu208Arg) c.629T>G (p.Leu210Arg) c.113T>G (p.Leu38Arg) n.875T>G | |
1 | g.154571447G>A | CA421231149 | CHRNB2 | c.624G>A (p.Leu208=) c.630G>A (p.Leu210=) c.114G>A (p.Leu38=) n.876G>A | gnomAD v4 |
1 | g.154571447G>C | CA421231151 | CHRNB2 | c.624G>C (p.Leu208=) c.630G>C (p.Leu210=) c.114G>C (p.Leu38=) n.876G>C | |
1 | g.154571447G>T | CA421231153 | CHRNB2 | c.624G>T (p.Leu208=) c.630G>T (p.Leu210=) c.114G>T (p.Leu38=) n.876G>T | |
1 | g.154571448C>A | CA342630497 | CHRNB2 | c.625C>A (p.Pro209Thr) c.631C>A (p.Pro211Thr) c.115C>A (p.Pro39Thr) n.877C>A | |
1 | g.154571448C>G | CA342630496 | CHRNB2 | c.625C>G (p.Pro209Ala) c.631C>G (p.Pro211Ala) c.115C>G (p.Pro39Ala) n.877C>G | |
1 | g.154571448C>T | CA342630495 | CHRNB2 | c.625C>T (p.Pro209Ser) c.631C>T (p.Pro211Ser) c.115C>T (p.Pro39Ser) n.877C>T | |
1 | g.154571449C>A | CA342630498 | CHRNB2 | c.626C>A (p.Pro209Gln) c.632C>A (p.Pro211Gln) c.116C>A (p.Pro39Gln) n.878C>A | |
1 | g.154571449C= | CA2480925256 | CHRNB2 | c.626C= (p.Pro209=) c.632C= (p.Pro211=) c.116C= (p.Pro39=) n.878C= | |
1 | g.154571449C>G | CA342630499 | CHRNB2 | c.626C>G (p.Pro209Arg) c.632C>G (p.Pro211Arg) c.116C>G (p.Pro39Arg) n.878C>G | gnomAD v4 |
1 | g.154571449C>T | CA30834265 | CHRNB2 | c.626C>T (p.Pro209Leu) c.632C>T (p.Pro211Leu) c.116C>T (p.Pro39Leu) n.878C>T | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.154571451_154571458del | CA2648170004 | CHRNB2 | c.628_635del (p.Gly210GlnfsTer15) c.634_641del (p.Gly212GlnfsTer15) c.118_125del (p.Gly40GlnfsTer15) n.880_887del | gnomAD v4 |
1 | g.154571450G>A | CA1130752 | CHRNB2 | c.627G>A (p.Pro209=) c.633G>A (p.Pro211=) c.117G>A (p.Pro39=) n.879G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571450G>C | CA421231160 | CHRNB2 | c.627G>C (p.Pro209=) c.633G>C (p.Pro211=) c.117G>C (p.Pro39=) n.879G>C | |
1 | g.154571450G= | CA2480925257 | CHRNB2 | c.627G= (p.Pro209=) c.633G= (p.Pro211=) c.117G= (p.Pro39=) n.879G= | |
1 | g.154571450G>T | CA421231162 | CHRNB2 | c.627G>T (p.Pro209=) c.633G>T (p.Pro211=) c.117G>T (p.Pro39=) n.879G>T | |
1 | g.154571451G>A | CA342630500 | CHRNB2 | c.628G>A (p.Gly210Ser) c.634G>A (p.Gly212Ser) c.118G>A (p.Gly40Ser) n.880G>A | |
1 | g.154571451G>C | CA342630501 | CHRNB2 | c.628G>C (p.Gly210Arg) c.634G>C (p.Gly212Arg) c.118G>C (p.Gly40Arg) n.880G>C | |
1 | g.154571451G>T | CA342630502 | CHRNB2 | c.628G>T (p.Gly210Cys) c.634G>T (p.Gly212Cys) c.118G>T (p.Gly40Cys) n.880G>T | |
1 | g.154571452G>A | CA342630503 | CHRNB2 | c.629G>A (p.Gly210Asp) c.635G>A (p.Gly212Asp) c.119G>A (p.Gly40Asp) n.881G>A | |
1 | g.154571452G>C | CA342630504 | CHRNB2 | c.629G>C (p.Gly210Ala) c.635G>C (p.Gly212Ala) c.119G>C (p.Gly40Ala) n.881G>C | |
1 | g.154571452G>T | CA342630505 | CHRNB2 | c.629G>T (p.Gly210Val) c.635G>T (p.Gly212Val) c.119G>T (p.Gly40Val) n.881G>T | |
1 | g.154571453C>A | CA421231169 | CHRNB2 | c.630C>A (p.Gly210=) c.636C>A (p.Gly212=) c.120C>A (p.Gly40=) n.882C>A | |
1 | g.154571453C>G | CA421231170 | CHRNB2 | c.630C>G (p.Gly210=) c.636C>G (p.Gly212=) c.120C>G (p.Gly40=) n.882C>G | |
1 | g.154571453C>T | CA421231171 | CHRNB2 | c.630C>T (p.Gly210=) c.636C>T (p.Gly212=) c.120C>T (p.Gly40=) n.882C>T | |
1 | g.154571454C>A | CA421231173 | CHRNB2 | c.631C>A (p.Arg211=) c.637C>A (p.Arg213=) c.121C>A (p.Arg41=) n.883C>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571454C= | CA1143396276 | CHRNB2 | c.631C= (p.Arg211=) c.637C= (p.Arg213=) c.121C= (p.Arg41=) n.883C= | |
1 | g.154571454C>G | CA342630506 | CHRNB2 | c.631C>G (p.Arg211Gly) c.637C>G (p.Arg213Gly) c.121C>G (p.Arg41Gly) n.883C>G | |
1 | g.154571454C>T | CA1130753 | CHRNB2 | c.631C>T (p.Arg211Trp) c.637C>T (p.Arg213Trp) c.121C>T (p.Arg41Trp) n.883C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571455G>A | CA342630509 | CHRNB2 | c.632G>A (p.Arg211Gln) c.638G>A (p.Arg213Gln) c.122G>A (p.Arg41Gln) n.884G>A | ClinVar dbSNP gnomAD v4 |
1 | g.154571455G>C | CA342630508 | CHRNB2 | c.632G>C (p.Arg211Pro) c.638G>C (p.Arg213Pro) c.122G>C (p.Arg41Pro) n.884G>C | |
1 | g.154571455G= | CA2480925258 | CHRNB2 | c.632G= (p.Arg211=) c.638G= (p.Arg213=) c.122G= (p.Arg41=) n.884G= | |
1 | g.154571455G>T | CA342630507 | CHRNB2 | c.632G>T (p.Arg211Leu) c.638G>T (p.Arg213Leu) c.122G>T (p.Arg41Leu) n.884G>T | |
1 | g.154571456G>A | CA421231176 | CHRNB2 | c.633G>A (p.Arg211=) c.639G>A (p.Arg213=) c.123G>A (p.Arg41=) n.885G>A | |
1 | g.154571456G>C | CA421231177 | CHRNB2 | c.633G>C (p.Arg211=) c.639G>C (p.Arg213=) c.123G>C (p.Arg41=) n.885G>C | gnomAD v4 |
1 | g.154571456G>T | CA421231183 | CHRNB2 | c.633G>T (p.Arg211=) c.639G>T (p.Arg213=) c.123G>T (p.Arg41=) n.885G>T | |
1 | g.154571457C>A | CA342630510 | CHRNB2 | c.634C>A (p.Arg212Ser) c.640C>A (p.Arg214Ser) c.124C>A (p.Arg42Ser) n.886C>A | |
1 | g.154571457C= | CA1147690155 | CHRNB2 | c.634C= (p.Arg212=) c.640C= (p.Arg214=) c.124C= (p.Arg42=) n.886C= | |
1 | g.154571457C>G | CA342630511 | CHRNB2 | c.634C>G (p.Arg212Gly) c.640C>G (p.Arg214Gly) c.124C>G (p.Arg42Gly) n.886C>G | gnomAD v4 |
1 | g.154571457C>T | CA1130754 | CHRNB2 | c.634C>T (p.Arg212Cys) c.640C>T (p.Arg214Cys) c.124C>T (p.Arg42Cys) n.886C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571458G>A | CA1130755 | CHRNB2 | c.635G>A (p.Arg212His) c.641G>A (p.Arg214His) c.125G>A (p.Arg42His) n.887G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571458G>C | CA342630512 | CHRNB2 | c.635G>C (p.Arg212Pro) c.641G>C (p.Arg214Pro) c.125G>C (p.Arg42Pro) n.887G>C | |
1 | g.154571458G= | CA1149111108 | CHRNB2 | c.635G= (p.Arg212=) c.641G= (p.Arg214=) c.125G= (p.Arg42=) n.887G= | |
1 | g.154571458G>T | CA342630513 | CHRNB2 | c.635G>T (p.Arg212Leu) c.641G>T (p.Arg214Leu) c.125G>T (p.Arg42Leu) n.887G>T | |
1 | g.154571459C>A | CA421231186 | CHRNB2 | c.636C>A (p.Arg212=) c.642C>A (p.Arg214=) c.126C>A (p.Arg42=) n.888C>A | |
1 | g.154571459C>G | CA421231188 | CHRNB2 | c.636C>G (p.Arg212=) c.642C>G (p.Arg214=) c.126C>G (p.Arg42=) n.888C>G | |
1 | g.154571459C>T | CA421231190 | CHRNB2 | c.636C>T (p.Arg212=) c.642C>T (p.Arg214=) c.126C>T (p.Arg42=) n.888C>T | gnomAD v4 |
1 | g.154571460A>C | CA342630514 | CHRNB2 | c.637A>C (p.Asn213His) c.643A>C (p.Asn215His) c.127A>C (p.Asn43His) n.889A>C | gnomAD v4 |
1 | g.154571460A>G | CA342630515 | CHRNB2 | c.637A>G (p.Asn213Asp) c.643A>G (p.Asn215Asp) c.127A>G (p.Asn43Asp) n.889A>G | |
1 | g.154571460A>T | CA342630516 | CHRNB2 | c.637A>T (p.Asn213Tyr) c.643A>T (p.Asn215Tyr) c.127A>T (p.Asn43Tyr) n.889A>T | |
1 | g.154571461A>C | CA342630517 | CHRNB2 | c.638A>C (p.Asn213Thr) c.644A>C (p.Asn215Thr) c.128A>C (p.Asn43Thr) n.890A>C | |
1 | g.154571461A>G | CA342630518 | CHRNB2 | c.638A>G (p.Asn213Ser) c.644A>G (p.Asn215Ser) c.128A>G (p.Asn43Ser) n.890A>G | gnomAD v4 |
1 | g.154571461A>T | CA342630519 | CHRNB2 | c.638A>T (p.Asn213Ile) c.644A>T (p.Asn215Ile) c.128A>T (p.Asn43Ile) n.890A>T | |
1 | g.154571462C>A | CA342630520 | CHRNB2 | c.639C>A (p.Asn213Lys) c.645C>A (p.Asn215Lys) c.129C>A (p.Asn43Lys) n.891C>A | |
1 | g.154571462C= | CA2480925259 | CHRNB2 | c.639C= (p.Asn213=) c.645C= (p.Asn215=) c.129C= (p.Asn43=) n.891C= | |
1 | g.154571462C>G | CA342630521 | CHRNB2 | c.639C>G (p.Asn213Lys) c.645C>G (p.Asn215Lys) c.129C>G (p.Asn43Lys) n.891C>G | gnomAD v4 |
1 | g.154571462C>T | CA1130756 | CHRNB2 | c.639C>T (p.Asn213=) c.645C>T (p.Asn215=) c.129C>T (p.Asn43=) n.891C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.154571463G>A | CA313655 | CHRNB2 | c.640G>A (p.Glu214Lys) c.646G>A (p.Glu216Lys) c.130G>A (p.Glu44Lys) n.892G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571463G>C | CA342630522 | CHRNB2 | c.640G>C (p.Glu214Gln) c.646G>C (p.Glu216Gln) c.130G>C (p.Glu44Gln) n.892G>C | ClinVar dbSNP |
1 | g.154571463G= | CA2480925260 | CHRNB2 | c.640G= (p.Glu214=) c.646G= (p.Glu216=) c.130G= (p.Glu44=) n.892G= | |
1 | g.154571463G>T | CA342630523 | CHRNB2 | c.640G>T (p.Glu214Ter) c.646G>T (p.Glu216Ter) c.130G>T (p.Glu44Ter) n.892G>T | |
1 | g.154571464A>C | CA342630524 | CHRNB2 | c.641A>C (p.Glu214Ala) c.647A>C (p.Glu216Ala) c.131A>C (p.Glu44Ala) n.893A>C | |
1 | g.154571464A>G | CA342630525 | CHRNB2 | c.641A>G (p.Glu214Gly) c.647A>G (p.Glu216Gly) c.131A>G (p.Glu44Gly) n.893A>G | |
1 | g.154571464A>T | CA342630526 | CHRNB2 | c.641A>T (p.Glu214Val) c.647A>T (p.Glu216Val) c.131A>T (p.Glu44Val) n.893A>T | |
1 | g.154571465G>A | CA421231206 | CHRNB2 | c.642G>A (p.Glu214=) c.648G>A (p.Glu216=) c.132G>A (p.Glu44=) n.894G>A | |
1 | g.154571465G>C | CA342630527 | CHRNB2 | c.642G>C (p.Glu214Asp) c.648G>C (p.Glu216Asp) c.132G>C (p.Glu44Asp) n.894G>C | gnomAD v4 |
1 | g.154571465G>T | CA342630528 | CHRNB2 | c.642G>T (p.Glu214Asp) c.648G>T (p.Glu216Asp) c.132G>T (p.Glu44Asp) n.894G>T | |
1 | g.154571466A>C | CA342630529 | CHRNB2 | c.643A>C (p.Asn215His) c.649A>C (p.Asn217His) c.133A>C (p.Asn45His) n.895A>C | |
1 | g.154571466A>G | CA342630530 | CHRNB2 | c.643A>G (p.Asn215Asp) c.649A>G (p.Asn217Asp) c.133A>G (p.Asn45Asp) n.895A>G | |
1 | g.154571466A>T | CA342630531 | CHRNB2 | c.643A>T (p.Asn215Tyr) c.649A>T (p.Asn217Tyr) c.133A>T (p.Asn45Tyr) n.895A>T | |
1 | g.154571467A= | CA2480925261 | CHRNB2 | c.644A= (p.Asn215=) c.650A= (p.Asn217=) c.134A= (p.Asn45=) n.896A= | |
1 | g.154571467A>C | CA342630532 | CHRNB2 | c.644A>C (p.Asn215Thr) c.650A>C (p.Asn217Thr) c.134A>C (p.Asn45Thr) n.896A>C | dbSNP gnomAD v4 |
1 | g.154571467A>G | CA342630533 | CHRNB2 | c.644A>G (p.Asn215Ser) c.650A>G (p.Asn217Ser) c.134A>G (p.Asn45Ser) n.896A>G | |
1 | g.154571467A>T | CA342630534 | CHRNB2 | c.644A>T (p.Asn215Ile) c.650A>T (p.Asn217Ile) c.134A>T (p.Asn45Ile) n.896A>T | |
1 | g.154571468C>A | CA342630535 | CHRNB2 | c.645C>A (p.Asn215Lys) c.651C>A (p.Asn217Lys) c.135C>A (p.Asn45Lys) n.897C>A | |
1 | g.154571468C>G | CA342630536 | CHRNB2 | c.645C>G (p.Asn215Lys) c.651C>G (p.Asn217Lys) c.135C>G (p.Asn45Lys) n.897C>G | |
1 | g.154571468C>T | CA421231216 | CHRNB2 | c.645C>T (p.Asn215=) c.651C>T (p.Asn217=) c.135C>T (p.Asn45=) n.897C>T | ClinVar |
1 | g.154571471dup | CA2648170054 | CHRNB2 | c.648dup (p.Asp217ArgfsTer11) c.654dup (p.Asp219ArgfsTer11) c.138dup (p.Asp47ArgfsTer11) n.900dup | gnomAD v4 |
1 | g.154571471del | CA2499214194 | CHRNB2 | c.648del (p.Asp217ThrfsTer?) c.654del (p.Asp219ThrfsTer?) c.138del (p.Asp47ThrfsTer?) n.900del | ClinVar dbSNP |
1 | g.154571469_154571471del | CA2648170056 | CHRNB2 | c.646_648del (p.Pro216del) c.652_654del (p.Pro218del) c.136_138del (p.Pro46del) n.898_900del | gnomAD v4 |
1 | g.154571469C>A | CA30834320 | CHRNB2 | c.646C>A (p.Pro216Thr) c.652C>A (p.Pro218Thr) c.136C>A (p.Pro46Thr) n.898C>A | dbSNP gnomAD v4 |
1 | g.154571469C= | CA1143440722 | CHRNB2 | c.646C= (p.Pro216=) c.652C= (p.Pro218=) c.136C= (p.Pro46=) n.898C= | |
1 | g.154571469C>G | CA342630537 | CHRNB2 | c.646C>G (p.Pro216Ala) c.652C>G (p.Pro218Ala) c.136C>G (p.Pro46Ala) n.898C>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154571469C>T | CA1130757 | CHRNB2 | c.646C>T (p.Pro216Ser) c.652C>T (p.Pro218Ser) c.136C>T (p.Pro46Ser) n.898C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571469_154571470delinsCC | CA2480925262 | CHRNB2 | c.646_647delinsCC (p.Pro216=) c.652_653delinsCC (p.Pro218=) c.136_137delinsCC (p.Pro46=) n.898_899delinsCC | |
1 | g.154571469_154571470delinsTT | CA30834309 | CHRNB2 | c.646_647delinsTT (p.Pro216Phe) c.652_653delinsTT (p.Pro218Phe) c.136_137delinsTT (p.Pro46Phe) n.898_899delinsTT | dbSNP |
1 | g.154571470C>A | CA342630538 | CHRNB2 | c.647C>A (p.Pro216His) c.653C>A (p.Pro218His) c.137C>A (p.Pro46His) n.899C>A | |
1 | g.154571470C>G | CA342630539 | CHRNB2 | c.647C>G (p.Pro216Arg) c.653C>G (p.Pro218Arg) c.137C>G (p.Pro46Arg) n.899C>G | |
1 | g.154571470C>T | CA342630540 | CHRNB2 | c.647C>T (p.Pro216Leu) c.653C>T (p.Pro218Leu) c.137C>T (p.Pro46Leu) n.899C>T | |
1 | g.154571471C>A | CA421231220 | CHRNB2 | c.648C>A (p.Pro216=) c.654C>A (p.Pro218=) c.138C>A (p.Pro46=) n.900C>A | COSMIC |
1 | g.154571471C= | CA1143759580 | CHRNB2 | c.648C= (p.Pro216=) c.654C= (p.Pro218=) c.138C= (p.Pro46=) n.900C= | |
1 | g.154571471C>G | CA421231223 | CHRNB2 | c.648C>G (p.Pro216=) c.654C>G (p.Pro218=) c.138C>G (p.Pro46=) n.900C>G | ClinVar dbSNP gnomAD v4 |
1 | g.154571471C>T | CA1130758 | CHRNB2 | c.648C>T (p.Pro216=) c.654C>T (p.Pro218=) c.138C>T (p.Pro46=) n.900C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571472G>A | CA1130759 | CHRNB2 | c.649G>A (p.Asp217Asn) c.655G>A (p.Asp219Asn) c.139G>A (p.Asp47Asn) n.901G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571472G>C | CA342630541 | CHRNB2 | c.649G>C (p.Asp217His) c.655G>C (p.Asp219His) c.139G>C (p.Asp47His) n.901G>C | |
1 | g.154571472G= | CA2480925263 | CHRNB2 | c.649G= (p.Asp217=) c.655G= (p.Asp219=) c.139G= (p.Asp47=) n.901G= | |
1 | g.154571472G>T | CA342630542 | CHRNB2 | c.649G>T (p.Asp217Tyr) c.655G>T (p.Asp219Tyr) c.139G>T (p.Asp47Tyr) n.901G>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571473A>C | CA342630543 | CHRNB2 | c.650A>C (p.Asp217Ala) c.656A>C (p.Asp219Ala) c.140A>C (p.Asp47Ala) n.902A>C | |
1 | g.154571473A>G | CA342630544 | CHRNB2 | c.650A>G (p.Asp217Gly) c.656A>G (p.Asp219Gly) c.140A>G (p.Asp47Gly) n.902A>G | |
1 | g.154571473A>T | CA342630545 | CHRNB2 | c.650A>T (p.Asp217Val) c.656A>T (p.Asp219Val) c.140A>T (p.Asp47Val) n.902A>T | |
1 | g.154571476_154571483dup | CA2746189168 | CHRNB2 | c.653_660dup (p.Tyr221ThrfsTer?) c.659_666dup (p.Tyr223ThrfsTer?) c.143_150dup (p.Tyr51ThrfsTer?) n.905_912dup | |
1 | g.154571474C>A | CA342630546 | CHRNB2 | c.651C>A (p.Asp217Glu) c.657C>A (p.Asp219Glu) c.141C>A (p.Asp47Glu) n.903C>A | dbSNP gnomAD v4 |
1 | g.154571474C= | CA2480925264 | CHRNB2 | c.651C= (p.Asp217=) c.657C= (p.Asp219=) c.141C= (p.Asp47=) n.903C= | |
1 | g.154571474C>G | CA342630547 | CHRNB2 | c.651C>G (p.Asp217Glu) c.657C>G (p.Asp219Glu) c.141C>G (p.Asp47Glu) n.903C>G | |
1 | g.154571474C>T | CA421231239 | CHRNB2 | c.651C>T (p.Asp217=) c.657C>T (p.Asp219=) c.141C>T (p.Asp47=) n.903C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.154571475G>A | CA342630548 | CHRNB2 | c.652G>A (p.Asp218Asn) c.658G>A (p.Asp220Asn) c.142G>A (p.Asp48Asn) n.904G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571475G>C | CA342630549 | CHRNB2 | c.652G>C (p.Asp218His) c.658G>C (p.Asp220His) c.142G>C (p.Asp48His) n.904G>C | |
1 | g.154571475G= | CA2480925265 | CHRNB2 | c.652G= (p.Asp218=) c.658G= (p.Asp220=) c.142G= (p.Asp48=) n.904G= | |
1 | g.154571475G>T | CA342630550 | CHRNB2 | c.652G>T (p.Asp218Tyr) c.658G>T (p.Asp220Tyr) c.142G>T (p.Asp48Tyr) n.904G>T | |
1 | g.154571476A>C | CA342630551 | CHRNB2 | c.653A>C (p.Asp218Ala) c.659A>C (p.Asp220Ala) c.143A>C (p.Asp48Ala) n.905A>C | ClinVar dbSNP |
1 | g.154571476A>G | CA342630552 | CHRNB2 | c.653A>G (p.Asp218Gly) c.659A>G (p.Asp220Gly) c.143A>G (p.Asp48Gly) n.905A>G | |
1 | g.154571476A>T | CA342630553 | CHRNB2 | c.653A>T (p.Asp218Val) c.659A>T (p.Asp220Val) c.143A>T (p.Asp48Val) n.905A>T | |
1 | g.154571477C>A | CA342630554 | CHRNB2 | c.654C>A (p.Asp218Glu) c.660C>A (p.Asp220Glu) c.144C>A (p.Asp48Glu) n.906C>A | COSMIC |
1 | g.154571477C= | CA2480925266 | CHRNB2 | c.654C= (p.Asp218=) c.660C= (p.Asp220=) c.144C= (p.Asp48=) n.906C= | |
1 | g.154571477C>G | CA342630555 | CHRNB2 | c.654C>G (p.Asp218Glu) c.660C>G (p.Asp220Glu) c.144C>G (p.Asp48Glu) n.906C>G | |
1 | g.154571477C>T | CA1130760 | CHRNB2 | c.654C>T (p.Asp218=) c.660C>T (p.Asp220=) c.144C>T (p.Asp48=) n.906C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571478T>A | CA342630556 | CHRNB2 | c.655T>A (p.Ser219Thr) c.661T>A (p.Ser221Thr) c.145T>A (p.Ser49Thr) n.907T>A | gnomAD v4 |
1 | g.154571478T>C | CA342630557 | CHRNB2 | c.655T>C (p.Ser219Pro) c.661T>C (p.Ser221Pro) c.145T>C (p.Ser49Pro) n.907T>C | |
1 | g.154571478T>G | CA342630558 | CHRNB2 | c.655T>G (p.Ser219Ala) c.661T>G (p.Ser221Ala) c.145T>G (p.Ser49Ala) n.907T>G | gnomAD v4 |
1 | g.154571479C>A | CA342630560 | CHRNB2 | c.656C>A (p.Ser219Tyr) c.662C>A (p.Ser221Tyr) c.146C>A (p.Ser49Tyr) n.908C>A | |
1 | g.154571479C>G | CA342630561 | CHRNB2 | c.656C>G (p.Ser219Cys) c.662C>G (p.Ser221Cys) c.146C>G (p.Ser49Cys) n.908C>G | gnomAD v4 |
1 | g.154571479C>T | CA342630559 | CHRNB2 | c.656C>T (p.Ser219Phe) c.662C>T (p.Ser221Phe) c.146C>T (p.Ser49Phe) n.908C>T | |
1 | g.154571480_154571482del | CA2648170117 | CHRNB2 | c.657_659del (p.Thr220del) c.663_665del (p.Thr222del) c.147_149del (p.Thr50del) n.909_911del | gnomAD v4 |
1 | g.154571480T>A | CA421231247 | CHRNB2 | c.657T>A (p.Ser219=) c.663T>A (p.Ser221=) c.147T>A (p.Ser49=) n.909T>A | |
1 | g.154571480T>C | CA421231248 | CHRNB2 | c.657T>C (p.Ser219=) c.663T>C (p.Ser221=) c.147T>C (p.Ser49=) n.909T>C | gnomAD v4 |
1 | g.154571480T>G | CA421231249 | CHRNB2 | c.657T>G (p.Ser219=) c.663T>G (p.Ser221=) c.147T>G (p.Ser49=) n.909T>G | |
1 | g.154571481A= | CA1143977974 | CHRNB2 | c.658A= (p.Thr220=) c.664A= (p.Thr222=) c.148A= (p.Thr50=) n.910A= | |
1 | g.154571481A>C | CA1130761 | CHRNB2 | c.658A>C (p.Thr220Pro) c.664A>C (p.Thr222Pro) c.148A>C (p.Thr50Pro) n.910A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571481A>G | CA342630562 | CHRNB2 | c.658A>G (p.Thr220Ala) c.664A>G (p.Thr222Ala) c.148A>G (p.Thr50Ala) n.910A>G | ClinVar gnomAD v4 |
1 | g.154571481A>T | CA342630563 | CHRNB2 | c.658A>T (p.Thr220Ser) c.664A>T (p.Thr222Ser) c.148A>T (p.Thr50Ser) n.910A>T | |
1 | g.154571482C>A | CA342630564 | CHRNB2 | c.659C>A (p.Thr220Lys) c.665C>A (p.Thr222Lys) c.149C>A (p.Thr50Lys) n.911C>A | |
1 | g.154571482C= | CA2480925267 | CHRNB2 | c.659C= (p.Thr220=) c.665C= (p.Thr222=) c.149C= (p.Thr50=) n.911C= | |
1 | g.154571482C>G | CA342630565 | CHRNB2 | c.659C>G (p.Thr220Arg) c.665C>G (p.Thr222Arg) c.149C>G (p.Thr50Arg) n.911C>G | |
1 | g.154571482C>T | CA313657 | CHRNB2 | c.659C>T (p.Thr220Met) c.665C>T (p.Thr222Met) c.149C>T (p.Thr50Met) n.911C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571483G>A | CA1130762 | CHRNB2 | c.660G>A (p.Thr220=) c.666G>A (p.Thr222=) c.150G>A (p.Thr50=) n.912G>A | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
1 | g.154571483G>C | CA1130763 | CHRNB2 | c.660G>C (p.Thr220=) c.666G>C (p.Thr222=) c.150G>C (p.Thr50=) n.912G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571483G= | CA1145204533 | CHRNB2 | c.660G= (p.Thr220=) c.666G= (p.Thr222=) c.150G= (p.Thr50=) n.912G= | |
1 | g.154571483G>T | CA421231259 | CHRNB2 | c.660G>T (p.Thr220=) c.666G>T (p.Thr222=) c.150G>T (p.Thr50=) n.912G>T | |
1 | g.154571484T>A | CA342630566 | CHRNB2 | c.661T>A (p.Tyr221Asn) c.667T>A (p.Tyr223Asn) c.151T>A (p.Tyr51Asn) n.913T>A | |
1 | g.154571484T>C | CA342630567 | CHRNB2 | c.661T>C (p.Tyr221His) c.667T>C (p.Tyr223His) c.151T>C (p.Tyr51His) n.913T>C | gnomAD v4 |
1 | g.154571484T>G | CA342630568 | CHRNB2 | c.661T>G (p.Tyr221Asp) c.667T>G (p.Tyr223Asp) c.151T>G (p.Tyr51Asp) n.913T>G | |
1 | g.154571485A>C | CA342630569 | CHRNB2 | c.662A>C (p.Tyr221Ser) c.668A>C (p.Tyr223Ser) c.152A>C (p.Tyr51Ser) n.914A>C | |
1 | g.154571485A>G | CA342630570 | CHRNB2 | c.662A>G (p.Tyr221Cys) c.668A>G (p.Tyr223Cys) c.152A>G (p.Tyr51Cys) n.914A>G | |
1 | g.154571485A>T | CA342630571 | CHRNB2 | c.662A>T (p.Tyr221Phe) c.668A>T (p.Tyr223Phe) c.152A>T (p.Tyr51Phe) n.914A>T | |
1 | g.154571486C>A | CA342630573 | CHRNB2 | c.663C>A (p.Tyr221Ter) c.669C>A (p.Tyr223Ter) c.153C>A (p.Tyr51Ter) n.915C>A | |
1 | g.154571486C= | CA2480925268 | CHRNB2 | c.663C= (p.Tyr221=) c.669C= (p.Tyr223=) c.153C= (p.Tyr51=) n.915C= | |
1 | g.154571486C>G | CA342630572 | CHRNB2 | c.663C>G (p.Tyr221Ter) c.669C>G (p.Tyr223Ter) c.153C>G (p.Tyr51Ter) n.915C>G | |
1 | g.154571486C>T | CA1130764 | CHRNB2 | c.663C>T (p.Tyr221=) c.669C>T (p.Tyr223=) c.153C>T (p.Tyr51=) n.915C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571487G>A | CA342630574 | CHRNB2 | c.664G>A (p.Val222Met) c.670G>A (p.Val224Met) c.154G>A (p.Val52Met) n.916G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.154571487G>C | CA342630575 | CHRNB2 | c.664G>C (p.Val222Leu) c.670G>C (p.Val224Leu) c.154G>C (p.Val52Leu) n.916G>C | ClinVar dbSNP gnomAD v4 |
1 | g.154571487G= | CA2480925269 | CHRNB2 | c.664G= (p.Val222=) c.670G= (p.Val224=) c.154G= (p.Val52=) n.916G= | |
1 | g.154571487G>T | CA342630576 | CHRNB2 | c.664G>T (p.Val222Leu) c.670G>T (p.Val224Leu) c.154G>T (p.Val52Leu) n.916G>T | |
1 | g.154571488T>A | CA30834389 | CHRNB2 | c.665T>A (p.Val222Glu) c.671T>A (p.Val224Glu) c.155T>A (p.Val52Glu) n.917T>A | dbSNP |
1 | g.154571488T>C | CA342630577 | CHRNB2 | c.665T>C (p.Val222Ala) c.671T>C (p.Val224Ala) c.155T>C (p.Val52Ala) n.917T>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571488T>G | CA342630578 | CHRNB2 | c.665T>G (p.Val222Gly) c.671T>G (p.Val224Gly) c.155T>G (p.Val52Gly) n.917T>G | |
1 | g.154571488T= | CA2480925270 | CHRNB2 | c.665T= (p.Val222=) c.671T= (p.Val224=) c.155T= (p.Val52=) n.917T= | |
1 | g.154571489G>A | CA421231277 | CHRNB2 | c.666G>A (p.Val222=) c.672G>A (p.Val224=) c.156G>A (p.Val52=) n.918G>A | |
1 | g.154571489G>C | CA421231278 | CHRNB2 | c.666G>C (p.Val222=) c.672G>C (p.Val224=) c.156G>C (p.Val52=) n.918G>C | |
1 | g.154571489G>T | CA421231279 | CHRNB2 | c.666G>T (p.Val222=) c.672G>T (p.Val224=) c.156G>T (p.Val52=) n.918G>T | |
1 | g.154571490G>A | CA342630579 | CHRNB2 | c.667G>A (p.Asp223Asn) c.673G>A (p.Asp225Asn) c.157G>A (p.Asp53Asn) n.919G>A | |
1 | g.154571490G>C | CA342630580 | CHRNB2 | c.667G>C (p.Asp223His) c.673G>C (p.Asp225His) c.157G>C (p.Asp53His) n.919G>C | gnomAD v4 |
1 | g.154571490G>T | CA342630581 | CHRNB2 | c.667G>T (p.Asp223Tyr) c.673G>T (p.Asp225Tyr) c.157G>T (p.Asp53Tyr) n.919G>T | |
1 | g.154571491A= | CA2480925271 | CHRNB2 | c.668A= (p.Asp223=) c.674A= (p.Asp225=) c.158A= (p.Asp53=) n.920A= | |
1 | g.154571491A>C | CA342630582 | CHRNB2 | c.668A>C (p.Asp223Ala) c.674A>C (p.Asp225Ala) c.158A>C (p.Asp53Ala) n.920A>C | |
1 | g.154571491A>G | CA1130765 | CHRNB2 | c.668A>G (p.Asp223Gly) c.674A>G (p.Asp225Gly) c.158A>G (p.Asp53Gly) n.920A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571491A>T | CA342630583 | CHRNB2 | c.668A>T (p.Asp223Val) c.674A>T (p.Asp225Val) c.158A>T (p.Asp53Val) n.920A>T | |
1 | g.154571492C>A | CA342630585 | CHRNB2 | c.669C>A (p.Asp223Glu) c.675C>A (p.Asp225Glu) c.159C>A (p.Asp53Glu) n.921C>A | |
1 | g.154571492C= | CA2480925272 | CHRNB2 | c.669C= (p.Asp223=) c.675C= (p.Asp225=) c.159C= (p.Asp53=) n.921C= | |
1 | g.154571492C>G | CA342630584 | CHRNB2 | c.669C>G (p.Asp223Glu) c.675C>G (p.Asp225Glu) c.159C>G (p.Asp53Glu) n.921C>G | |
1 | g.154571492C>T | CA421231284 | CHRNB2 | c.669C>T (p.Asp223=) c.675C>T (p.Asp225=) c.159C>T (p.Asp53=) n.921C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.154571493A>C | CA342630586 | CHRNB2 | c.670A>C (p.Ile224Leu) c.676A>C (p.Ile226Leu) c.160A>C (p.Ile54Leu) n.922A>C | |
1 | g.154571493A>G | CA342630587 | CHRNB2 | c.670A>G (p.Ile224Val) c.676A>G (p.Ile226Val) c.160A>G (p.Ile54Val) n.922A>G | gnomAD v4 |
1 | g.154571493A>T | CA342630588 | CHRNB2 | c.670A>T (p.Ile224Phe) c.676A>T (p.Ile226Phe) c.160A>T (p.Ile54Phe) n.922A>T | |
1 | g.154571494T>A | CA342630589 | CHRNB2 | c.671T>A (p.Ile224Asn) c.677T>A (p.Ile226Asn) c.161T>A (p.Ile54Asn) n.923T>A | dbSNP |
1 | g.154571494T>C | CA342630590 | CHRNB2 | c.671T>C (p.Ile224Thr) c.677T>C (p.Ile226Thr) c.161T>C (p.Ile54Thr) n.923T>C | |
1 | g.154571494T>G | CA342630591 | CHRNB2 | c.671T>G (p.Ile224Ser) c.677T>G (p.Ile226Ser) c.161T>G (p.Ile54Ser) n.923T>G | |
1 | g.154571494T= | CA2480925273 | CHRNB2 | c.671T= (p.Ile224=) c.677T= (p.Ile226=) c.161T= (p.Ile54=) n.923T= | |
1 | g.154571495C>A | CA421231294 | CHRNB2 | c.672C>A (p.Ile224=) c.678C>A (p.Ile226=) c.162C>A (p.Ile54=) n.924C>A | |
1 | g.154571495C= | CA2480925274 | CHRNB2 | c.672C= (p.Ile224=) c.678C= (p.Ile226=) c.162C= (p.Ile54=) n.924C= | |
1 | g.154571495C>G | CA342630592 | CHRNB2 | c.672C>G (p.Ile224Met) c.678C>G (p.Ile226Met) c.162C>G (p.Ile54Met) n.924C>G | |
1 | g.154571495C>T | CA421231296 | CHRNB2 | c.672C>T (p.Ile224=) c.678C>T (p.Ile226=) c.162C>T (p.Ile54=) n.924C>T | dbSNP COSMIC |
1 | g.154571496A= | CA2480925275 | CHRNB2 | c.673A= (p.Thr225=) c.679A= (p.Thr227=) c.163A= (p.Thr55=) n.925A= | |
1 | g.154571496A>C | CA1130766 | CHRNB2 | c.673A>C (p.Thr225Pro) c.679A>C (p.Thr227Pro) c.163A>C (p.Thr55Pro) n.925A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571496A>G | CA342630593 | CHRNB2 | c.673A>G (p.Thr225Ala) c.679A>G (p.Thr227Ala) c.163A>G (p.Thr55Ala) n.925A>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154571496A>T | CA342630594 | CHRNB2 | c.673A>T (p.Thr225Ser) c.679A>T (p.Thr227Ser) c.163A>T (p.Thr55Ser) n.925A>T | gnomAD v4 |
1 | g.154571497del | CA2648170181 | CHRNB2 | c.674del (p.Thr225SerfsTer27) c.680del (p.Thr227SerfsTer27) c.164del (p.Thr55SerfsTer27) n.926del | gnomAD v4 |
1 | g.154571497C>A | CA30834414 | CHRNB2 | c.674C>A (p.Thr225Lys) c.680C>A (p.Thr227Lys) c.164C>A (p.Thr55Lys) n.926C>A | dbSNP |
1 | g.154571497C= | CA1143516345 | CHRNB2 | c.674C= (p.Thr225=) c.680C= (p.Thr227=) c.164C= (p.Thr55=) n.926C= | |
1 | g.154571497C>G | CA342630595 | CHRNB2 | c.674C>G (p.Thr225Arg) c.680C>G (p.Thr227Arg) c.164C>G (p.Thr55Arg) n.926C>G | ClinVar dbSNP gnomAD v4 |
1 | g.154571497C>T | CA1130767 | CHRNB2 | c.674C>T (p.Thr225Met) c.680C>T (p.Thr227Met) c.164C>T (p.Thr55Met) n.926C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571498G>A | CA30834443 | CHRNB2 | c.675G>A (p.Thr225=) c.681G>A (p.Thr227=) c.165G>A (p.Thr55=) n.927G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571498G>C | CA421231303 | CHRNB2 | c.675G>C (p.Thr225=) c.681G>C (p.Thr227=) c.165G>C (p.Thr55=) n.927G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571498G= | CA2480925276 | CHRNB2 | c.675G= (p.Thr225=) c.681G= (p.Thr227=) c.165G= (p.Thr55=) n.927G= | |
1 | g.154571498G>T | CA421231302 | CHRNB2 | c.675G>T (p.Thr225=) c.681G>T (p.Thr227=) c.165G>T (p.Thr55=) n.927G>T | |
1 | g.154571499T>A | CA342630598 | CHRNB2 | c.676T>A (p.Tyr226Asn) c.682T>A (p.Tyr228Asn) c.166T>A (p.Tyr56Asn) n.928T>A | |
1 | g.154571499T>C | CA342630596 | CHRNB2 | c.676T>C (p.Tyr226His) c.682T>C (p.Tyr228His) c.166T>C (p.Tyr56His) n.928T>C | |
1 | g.154571499T>G | CA342630597 | CHRNB2 | c.676T>G (p.Tyr226Asp) c.682T>G (p.Tyr228Asp) c.166T>G (p.Tyr56Asp) n.928T>G | |
1 | g.154571500A>C | CA342630599 | CHRNB2 | c.677A>C (p.Tyr226Ser) c.683A>C (p.Tyr228Ser) c.167A>C (p.Tyr56Ser) n.929A>C | |
1 | g.154571500A>G | CA342630600 | CHRNB2 | c.677A>G (p.Tyr226Cys) c.683A>G (p.Tyr228Cys) c.167A>G (p.Tyr56Cys) n.929A>G | gnomAD v4 |
1 | g.154571500A>T | CA342630601 | CHRNB2 | c.677A>T (p.Tyr226Phe) c.683A>T (p.Tyr228Phe) c.167A>T (p.Tyr56Phe) n.929A>T | gnomAD v4 |
1 | g.154571501T>A | CA342630602 | CHRNB2 | c.678T>A (p.Tyr226Ter) c.684T>A (p.Tyr228Ter) c.168T>A (p.Tyr56Ter) n.930T>A | |
1 | g.154571501T>C | CA421231312 | CHRNB2 | c.678T>C (p.Tyr226=) c.684T>C (p.Tyr228=) c.168T>C (p.Tyr56=) n.930T>C | ClinVar dbSNP gnomAD v4 |
1 | g.154571501T>G | CA342630603 | CHRNB2 | c.678T>G (p.Tyr226Ter) c.684T>G (p.Tyr228Ter) c.168T>G (p.Tyr56Ter) n.930T>G | |
1 | g.154571501T= | CA2480925277 | CHRNB2 | c.678T= (p.Tyr226=) c.684T= (p.Tyr228=) c.168T= (p.Tyr56=) n.930T= | |
1 | g.154571502G>A | CA30834444 | CHRNB2 | c.679G>A (p.Asp227Asn) c.685G>A (p.Asp229Asn) c.169G>A (p.Asp57Asn) n.931G>A | dbSNP |
1 | g.154571502G>C | CA342630604 | CHRNB2 | c.679G>C (p.Asp227His) c.685G>C (p.Asp229His) c.169G>C (p.Asp57His) n.931G>C | |
1 | g.154571502G= | CA1143382417 | CHRNB2 | c.679G= (p.Asp227=) c.685G= (p.Asp229=) c.169G= (p.Asp57=) n.931G= | |
1 | g.154571502G>T | CA342630605 | CHRNB2 | c.679G>T (p.Asp227Tyr) c.685G>T (p.Asp229Tyr) c.169G>T (p.Asp57Tyr) n.931G>T | |
1 | g.154571503A>C | CA342630606 | CHRNB2 | c.680A>C (p.Asp227Ala) c.686A>C (p.Asp229Ala) c.170A>C (p.Asp57Ala) n.932A>C | |
1 | g.154571503A>G | CA342630607 | CHRNB2 | c.680A>G (p.Asp227Gly) c.686A>G (p.Asp229Gly) c.170A>G (p.Asp57Gly) n.932A>G | |
1 | g.154571503A>T | CA342630608 | CHRNB2 | c.680A>T (p.Asp227Val) c.686A>T (p.Asp229Val) c.170A>T (p.Asp57Val) n.932A>T | |
1 | g.154571504C>A | CA342630609 | CHRNB2 | c.681C>A (p.Asp227Glu) c.687C>A (p.Asp229Glu) c.171C>A (p.Asp57Glu) n.933C>A | |
1 | g.154571504C>G | CA342630610 | CHRNB2 | c.681C>G (p.Asp227Glu) c.687C>G (p.Asp229Glu) c.171C>G (p.Asp57Glu) n.933C>G | |
1 | g.154571504C>T | CA421231318 | CHRNB2 | c.681C>T (p.Asp227=) c.687C>T (p.Asp229=) c.171C>T (p.Asp57=) n.933C>T | |
1 | g.154571505T>A | CA342630612 | CHRNB2 | c.682T>A (p.Phe228Ile) c.688T>A (p.Phe230Ile) c.172T>A (p.Phe58Ile) n.934T>A | |
1 | g.154571505T>C | CA342630613 | CHRNB2 | c.682T>C (p.Phe228Leu) c.688T>C (p.Phe230Leu) c.172T>C (p.Phe58Leu) n.934T>C | |
1 | g.154571505T>G | CA342630611 | CHRNB2 | c.682T>G (p.Phe228Val) c.688T>G (p.Phe230Val) c.172T>G (p.Phe58Val) n.934T>G | |
1 | g.154571506T>A | CA342630616 | CHRNB2 | c.683T>A (p.Phe228Tyr) c.689T>A (p.Phe230Tyr) c.173T>A (p.Phe58Tyr) n.935T>A | |
1 | g.154571506T>C | CA342630614 | CHRNB2 | c.683T>C (p.Phe228Ser) c.689T>C (p.Phe230Ser) c.173T>C (p.Phe58Ser) n.935T>C | gnomAD v4 |
1 | g.154571506T>G | CA342630615 | CHRNB2 | c.683T>G (p.Phe228Cys) c.689T>G (p.Phe230Cys) c.173T>G (p.Phe58Cys) n.935T>G | |
1 | g.154571507C>A | CA342630617 | CHRNB2 | c.684C>A (p.Phe228Leu) c.690C>A (p.Phe230Leu) c.174C>A (p.Phe58Leu) n.936C>A | |
1 | g.154571507C>G | CA342630618 | CHRNB2 | c.684C>G (p.Phe228Leu) c.690C>G (p.Phe230Leu) c.174C>G (p.Phe58Leu) n.936C>G | |
1 | g.154571507C>T | CA421231324 | CHRNB2 | c.684C>T (p.Phe228=) c.690C>T (p.Phe230=) c.174C>T (p.Phe58=) n.936C>T | |
1 | g.154571508A>C | CA342630619 | CHRNB2 | c.685A>C (p.Ile229Leu) c.691A>C (p.Ile231Leu) c.175A>C (p.Ile59Leu) n.937A>C | |
1 | g.154571508A>G | CA342630620 | CHRNB2 | c.685A>G (p.Ile229Val) c.691A>G (p.Ile231Val) c.175A>G (p.Ile59Val) n.937A>G | |
1 | g.154571508A>T | CA342630621 | CHRNB2 | c.685A>T (p.Ile229Phe) c.691A>T (p.Ile231Phe) c.175A>T (p.Ile59Phe) n.937A>T | |
1 | g.154571509T>A | CA342630622 | CHRNB2 | c.686T>A (p.Ile229Asn) c.692T>A (p.Ile231Asn) c.176T>A (p.Ile59Asn) n.938T>A | |
1 | g.154571509T>C | CA342630623 | CHRNB2 | c.686T>C (p.Ile229Thr) c.692T>C (p.Ile231Thr) c.176T>C (p.Ile59Thr) n.938T>C | |
1 | g.154571509T>G | CA342630624 | CHRNB2 | c.686T>G (p.Ile229Ser) c.692T>G (p.Ile231Ser) c.176T>G (p.Ile59Ser) n.938T>G | |
1 | g.154571510C>A | CA421231332 | CHRNB2 | c.687C>A (p.Ile229=) c.693C>A (p.Ile231=) c.177C>A (p.Ile59=) n.939C>A | |
1 | g.154571510C= | CA2480925278 | CHRNB2 | c.687C= (p.Ile229=) c.693C= (p.Ile231=) c.177C= (p.Ile59=) n.939C= | |
1 | g.154571510C>G | CA342630625 | CHRNB2 | c.687C>G (p.Ile229Met) c.693C>G (p.Ile231Met) c.177C>G (p.Ile59Met) n.939C>G | ClinVar dbSNP |
1 | g.154571510C>T | CA421231334 | CHRNB2 | c.687C>T (p.Ile229=) c.693C>T (p.Ile231=) c.177C>T (p.Ile59=) n.939C>T | gnomAD v4 COSMIC |
1 | g.154571511A>C | CA342630628 | CHRNB2 | c.688A>C (p.Ile230Leu) c.694A>C (p.Ile232Leu) c.178A>C (p.Ile60Leu) n.940A>C | |
1 | g.154571511A>G | CA342630627 | CHRNB2 | c.688A>G (p.Ile230Val) c.694A>G (p.Ile232Val) c.178A>G (p.Ile60Val) n.940A>G | gnomAD v4 |
1 | g.154571511A>T | CA342630626 | CHRNB2 | c.688A>T (p.Ile230Phe) c.694A>T (p.Ile232Phe) c.178A>T (p.Ile60Phe) n.940A>T | |
1 | g.154571512T>A | CA342630629 | CHRNB2 | c.689T>A (p.Ile230Asn) c.695T>A (p.Ile232Asn) c.179T>A (p.Ile60Asn) n.941T>A | |
1 | g.154571512T>C | CA342630630 | CHRNB2 | c.689T>C (p.Ile230Thr) c.695T>C (p.Ile232Thr) c.179T>C (p.Ile60Thr) n.941T>C | |
1 | g.154571512T>G | CA342630631 | CHRNB2 | c.689T>G (p.Ile230Ser) c.695T>G (p.Ile232Ser) c.179T>G (p.Ile60Ser) n.941T>G | |
1 | g.154571513T>A | CA421231339 | CHRNB2 | c.690T>A (p.Ile230=) c.696T>A (p.Ile232=) c.180T>A (p.Ile60=) n.942T>A | gnomAD v4 |
1 | g.154571513T>C | CA421231342 | CHRNB2 | c.690T>C (p.Ile230=) c.696T>C (p.Ile232=) c.180T>C (p.Ile60=) n.942T>C | ClinVar dbSNP |
1 | g.154571513T>G | CA342630632 | CHRNB2 | c.690T>G (p.Ile230Met) c.696T>G (p.Ile232Met) c.180T>G (p.Ile60Met) n.942T>G | |
1 | g.154571514C>A | CA342630633 | CHRNB2 | c.691C>A (p.Arg231Ser) c.697C>A (p.Arg233Ser) c.181C>A (p.Arg61Ser) n.943C>A | gnomAD v4 |
1 | g.154571514C= | CA2480925279 | CHRNB2 | c.691C= (p.Arg231=) c.697C= (p.Arg233=) c.181C= (p.Arg61=) n.943C= | |
1 | g.154571514C>G | CA342630634 | CHRNB2 | c.691C>G (p.Arg231Gly) c.697C>G (p.Arg233Gly) c.181C>G (p.Arg61Gly) n.943C>G | |
1 | g.154571514C>T | CA1130768 | CHRNB2 | c.691C>T (p.Arg231Cys) c.697C>T (p.Arg233Cys) c.181C>T (p.Arg61Cys) n.943C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571515G>A | CA30834449 | CHRNB2 | c.692G>A (p.Arg231His) c.698G>A (p.Arg233His) c.182G>A (p.Arg61His) n.944G>A | dbSNP gnomAD v4 COSMIC |
1 | g.154571515G>C | CA342630635 | CHRNB2 | c.692G>C (p.Arg231Pro) c.698G>C (p.Arg233Pro) c.182G>C (p.Arg61Pro) n.944G>C | |
1 | g.154571515G= | CA1143478800 | CHRNB2 | c.692G= (p.Arg231=) c.698G= (p.Arg233=) c.182G= (p.Arg61=) n.944G= | |
1 | g.154571515G>T | CA342630636 | CHRNB2 | c.692G>T (p.Arg231Leu) c.698G>T (p.Arg233Leu) c.182G>T (p.Arg61Leu) n.944G>T | |
1 | g.154571516C>A | CA421231350 | CHRNB2 | c.693C>A (p.Arg231=) c.699C>A (p.Arg233=) c.183C>A (p.Arg61=) n.945C>A | |
1 | g.154571516C>G | CA421231352 | CHRNB2 | c.693C>G (p.Arg231=) c.699C>G (p.Arg233=) c.183C>G (p.Arg61=) n.945C>G | ClinVar dbSNP |
1 | g.154571516C>T | CA421231355 | CHRNB2 | c.693C>T (p.Arg231=) c.699C>T (p.Arg233=) c.183C>T (p.Arg61=) n.945C>T | |
1 | g.154571517C>A | CA342630637 | CHRNB2 | c.694C>A (p.Arg232Ser) c.700C>A (p.Arg234Ser) c.184C>A (p.Arg62Ser) n.946C>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154571517C= | CA2480925280 | CHRNB2 | c.694C= (p.Arg232=) c.700C= (p.Arg234=) c.184C= (p.Arg62=) n.946C= | |
1 | g.154571517C>G | CA342630638 | CHRNB2 | c.694C>G (p.Arg232Gly) c.700C>G (p.Arg234Gly) c.184C>G (p.Arg62Gly) n.946C>G | |
1 | g.154571517C>T | CA1130769 | CHRNB2 | c.694C>T (p.Arg232Cys) c.700C>T (p.Arg234Cys) c.184C>T (p.Arg62Cys) n.946C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.154571518G>A | CA313659 | CHRNB2 | c.695G>A (p.Arg232His) c.701G>A (p.Arg234His) c.185G>A (p.Arg62His) n.947G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571518G>C | CA342630640 | CHRNB2 | c.695G>C (p.Arg232Pro) c.701G>C (p.Arg234Pro) c.185G>C (p.Arg62Pro) n.947G>C | |
1 | g.154571518G= | CA1141153238 | CHRNB2 | c.695G= (p.Arg232=) c.701G= (p.Arg234=) c.185G= (p.Arg62=) n.947G= | |
1 | g.154571518G>T | CA342630639 | CHRNB2 | c.695G>T (p.Arg232Leu) c.701G>T (p.Arg234Leu) c.185G>T (p.Arg62Leu) n.947G>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571519C>A | CA30834462 | CHRNB2 | c.696C>A (p.Arg232=) c.702C>A (p.Arg234=) c.186C>A (p.Arg62=) n.948C>A | dbSNP gnomAD v4 |
1 | g.154571519C= | CA2480925281 | CHRNB2 | c.696C= (p.Arg232=) c.702C= (p.Arg234=) c.186C= (p.Arg62=) n.948C= | |
1 | g.154571519C>G | CA421231361 | CHRNB2 | c.696C>G (p.Arg232=) c.702C>G (p.Arg234=) c.186C>G (p.Arg62=) n.948C>G | |
1 | g.154571519C>T | CA421231363 | CHRNB2 | c.696C>T (p.Arg232=) c.702C>T (p.Arg234=) c.186C>T (p.Arg62=) n.948C>T | |
1 | g.154571520A>C | CA342630641 | CHRNB2 | c.697A>C (p.Lys233Gln) c.703A>C (p.Lys235Gln) c.187A>C (p.Lys63Gln) n.949A>C | |
1 | g.154571520A>G | CA342630642 | CHRNB2 | c.697A>G (p.Lys233Glu) c.703A>G (p.Lys235Glu) c.187A>G (p.Lys63Glu) n.949A>G | |
1 | g.154571520A>T | CA342630643 | CHRNB2 | c.697A>T (p.Lys233Ter) c.703A>T (p.Lys235Ter) c.187A>T (p.Lys63Ter) n.949A>T | |
1 | g.154571521dup | CA421231365 | CHRNB2 | c.698dup (p.Pro234AlafsTer?) c.704dup (p.Pro236AlafsTer?) c.188dup (p.Pro64AlafsTer?) n.950dup | COSMIC |
1 | g.154571521A>C | CA342630644 | CHRNB2 | c.698A>C (p.Lys233Thr) c.704A>C (p.Lys235Thr) c.188A>C (p.Lys63Thr) n.950A>C | |
1 | g.154571521A>G | CA342630645 | CHRNB2 | c.698A>G (p.Lys233Arg) c.704A>G (p.Lys235Arg) c.188A>G (p.Lys63Arg) n.950A>G | |
1 | g.154571521A>T | CA342630646 | CHRNB2 | c.698A>T (p.Lys233Met) c.704A>T (p.Lys235Met) c.188A>T (p.Lys63Met) n.950A>T | |
1 | g.154571522G>A | CA421230956 | CHRNB2 | c.699G>A (p.Lys233=) c.705G>A (p.Lys235=) c.189G>A (p.Lys63=) n.951G>A | |
1 | g.154571522G>C | CA342630648 | CHRNB2 | c.699G>C (p.Lys233Asn) c.705G>C (p.Lys235Asn) c.189G>C (p.Lys63Asn) n.951G>C | |
1 | g.154571522G>T | CA342630647 | CHRNB2 | c.699G>T (p.Lys233Asn) c.705G>T (p.Lys235Asn) c.189G>T (p.Lys63Asn) n.951G>T | |
1 | g.154571523C>A | CA342630649 | CHRNB2 | c.700C>A (p.Pro234Thr) c.706C>A (p.Pro236Thr) c.190C>A (p.Pro64Thr) n.952C>A | |
1 | g.154571523C>G | CA342630650 | CHRNB2 | c.700C>G (p.Pro234Ala) c.706C>G (p.Pro236Ala) c.190C>G (p.Pro64Ala) n.952C>G | |
1 | g.154571523C>T | CA342630651 | CHRNB2 | c.700C>T (p.Pro234Ser) c.706C>T (p.Pro236Ser) c.190C>T (p.Pro64Ser) n.952C>T | |
1 | g.154571524C>A | CA342630652 | CHRNB2 | c.701C>A (p.Pro234Gln) c.707C>A (p.Pro236Gln) c.191C>A (p.Pro64Gln) n.953C>A | |
1 | g.154571524C= | CA2480925282 | CHRNB2 | c.701C= (p.Pro234=) c.707C= (p.Pro236=) c.191C= (p.Pro64=) n.953C= | |
1 | g.154571524C>G | CA342630653 | CHRNB2 | c.701C>G (p.Pro234Arg) c.707C>G (p.Pro236Arg) c.191C>G (p.Pro64Arg) n.953C>G | |
1 | g.154571524C>T | CA342630654 | CHRNB2 | c.701C>T (p.Pro234Leu) c.707C>T (p.Pro236Leu) c.191C>T (p.Pro64Leu) n.953C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.154571525del | CA2648170268 | CHRNB2 | c.702del (p.Leu235SerfsTer17) c.708del (p.Leu237SerfsTer17) c.192del (p.Leu65SerfsTer17) n.954del | gnomAD v4 |
1 | g.154571525G>A | CA16603420 | CHRNB2 | c.702G>A (p.Pro234=) c.708G>A (p.Pro236=) c.192G>A (p.Pro64=) n.954G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.154571525G>C | CA421230957 | CHRNB2 | c.702G>C (p.Pro234=) c.708G>C (p.Pro236=) c.192G>C (p.Pro64=) n.954G>C | |
1 | g.154571525G= | CA1143392617 | CHRNB2 | c.702G= (p.Pro234=) c.708G= (p.Pro236=) c.192G= (p.Pro64=) n.954G= | |
1 | g.154571525G>T | CA421230958 | CHRNB2 | c.702G>T (p.Pro234=) c.708G>T (p.Pro236=) c.192G>T (p.Pro64=) n.954G>T | |
1 | g.154571526C>A | CA342630655 | CHRNB2 | c.703C>A (p.Leu235Ile) c.709C>A (p.Leu237Ile) c.193C>A (p.Leu65Ile) n.955C>A | |
1 | g.154571526C>G | CA342630657 | CHRNB2 | c.703C>G (p.Leu235Val) c.709C>G (p.Leu237Val) c.193C>G (p.Leu65Val) n.955C>G | |
1 | g.154571526C>T | CA342630656 | CHRNB2 | c.703C>T (p.Leu235Phe) c.709C>T (p.Leu237Phe) c.193C>T (p.Leu65Phe) n.955C>T | COSMIC |
1 | g.154571527T>A | CA342630658 | CHRNB2 | c.704T>A (p.Leu235His) c.710T>A (p.Leu237His) c.194T>A (p.Leu65His) n.956T>A | |
1 | g.154571527T>C | CA342630659 | CHRNB2 | c.704T>C (p.Leu235Pro) c.710T>C (p.Leu237Pro) c.194T>C (p.Leu65Pro) n.956T>C | |
1 | g.154571527T>G | CA342630660 | CHRNB2 | c.704T>G (p.Leu235Arg) c.710T>G (p.Leu237Arg) c.194T>G (p.Leu65Arg) n.956T>G |