Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.53810799_53810830dupCA2580097747NLRP12c.836_867dup (p.Leu290SerfsTer?)
c.668_699dup (p.Leu234SerfsTer?)
c.419_450dup (p.Leu151SerfsTer?)
 ClinVar gnomAD v4
19g.53810803_53810810delCA2586956543NLRP12c.854_861del (p.Val285AlafsTer11)
c.686_693del (p.Val229AlafsTer11)
c.437_444del (p.Val146AlafsTer11)
 gnomAD v4
19g.53810801G>ACA9639592NLRP12c.858C>T (p.Pro286=)
c.690C>T (p.Pro230=)
c.441C>T (p.Pro147=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.53810801G>CCA210450NLRP12c.858C>G (p.Pro286=)
c.690C>G (p.Pro230=)
c.441C>G (p.Pro147=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.53810801G=CA2342536895NLRP12c.858C= (p.Pro286=)
c.690C= (p.Pro230=)
c.441C= (p.Pro147=)
19g.53810801G>TCA508854222NLRP12c.858C>A (p.Pro286=)
c.690C>A (p.Pro230=)
c.441C>A (p.Pro147=)
19g.53810802G>ACA9639593NLRP12c.857C>T (p.Pro286Leu)
c.689C>T (p.Pro230Leu)
c.440C>T (p.Pro147Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.53810802G>CCA407415650NLRP12c.857C>G (p.Pro286Arg)
c.689C>G (p.Pro230Arg)
c.440C>G (p.Pro147Arg)
19g.53810802G=CA2342536896NLRP12c.857C= (p.Pro286=)
c.689C= (p.Pro230=)
c.440C= (p.Pro147=)
19g.53810802G>TCA407415651NLRP12c.857C>A (p.Pro286His)
c.689C>A (p.Pro230His)
c.440C>A (p.Pro147His)
19g.53810803G>ACA9639594NLRP12c.856C>T (p.Pro286Ser)
c.688C>T (p.Pro230Ser)
c.439C>T (p.Pro147Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.53810803G>CCA407415652NLRP12c.856C>G (p.Pro286Ala)
c.688C>G (p.Pro230Ala)
c.439C>G (p.Pro147Ala)
19g.53810803G=CA2342536897NLRP12c.856C= (p.Pro286=)
c.688C= (p.Pro230=)
c.439C= (p.Pro147=)
19g.53810803G>TCA407415653NLRP12c.856C>A (p.Pro286Thr)
c.688C>A (p.Pro230Thr)
c.439C>A (p.Pro147Thr)
19g.53810804A>CCA508854228NLRP12c.855T>G (p.Val285=)
c.687T>G (p.Val229=)
c.438T>G (p.Val146=)
19g.53810804A>GCA508854230NLRP12c.855T>C (p.Val285=)
c.687T>C (p.Val229=)
c.438T>C (p.Val146=)
19g.53810804A>TCA508854231NLRP12c.855T>A (p.Val285=)
c.687T>A (p.Val229=)
c.438T>A (p.Val146=)
 gnomAD v4
19g.53810805A=CA2342536898NLRP12c.854T= (p.Val285=)
c.686T= (p.Val229=)
c.437T= (p.Val146=)
19g.53810805A>CCA407415655NLRP12c.854T>G (p.Val285Gly)
c.686T>G (p.Val229Gly)
c.437T>G (p.Val146Gly)
19g.53810805A>GCA310070968NLRP12c.854T>C (p.Val285Ala)
c.686T>C (p.Val229Ala)
c.437T>C (p.Val146Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.53810805A>TCA407415654NLRP12c.854T>A (p.Val285Asp)
c.686T>A (p.Val229Asp)
c.437T>A (p.Val146Asp)
 gnomAD v4
19g.53810806C>ACA407415656NLRP12c.853G>T (p.Val285Phe)
c.685G>T (p.Val229Phe)
c.436G>T (p.Val146Phe)
19g.53810806C>GCA407415657NLRP12c.853G>C (p.Val285Leu)
c.685G>C (p.Val229Leu)
c.436G>C (p.Val146Leu)
 gnomAD v4
19g.53810806C>TCA407415658NLRP12c.853G>A (p.Val285Ile)
c.685G>A (p.Val229Ile)
c.436G>A (p.Val146Ile)
19g.53810807T>ACA508854232NLRP12c.852A>T (p.Arg284=)
c.684A>T (p.Arg228=)
c.435A>T (p.Arg145=)
19g.53810807T>CCA508854233NLRP12c.852A>G (p.Arg284=)
c.684A>G (p.Arg228=)
c.435A>G (p.Arg145=)
19g.53810807T>GCA508854234NLRP12c.852A>C (p.Arg284=)
c.684A>C (p.Arg228=)
c.435A>C (p.Arg145=)
 dbSNP gnomAD v3 gnomAD v4
19g.53810807T=CA2342536899NLRP12c.852A= (p.Arg284=)
c.684A= (p.Arg228=)
c.435A= (p.Arg145=)
19g.53810808C>ACA407415659NLRP12c.851G>T (p.Arg284Leu)
c.683G>T (p.Arg228Leu)
c.434G>T (p.Arg145Leu)
 gnomAD v4
19g.53810808C=CA2342536900NLRP12c.851G= (p.Arg284=)
c.683G= (p.Arg228=)
c.434G= (p.Arg145=)
19g.53810808C>GCA407415660NLRP12c.851G>C (p.Arg284Pro)
c.683G>C (p.Arg228Pro)
c.434G>C (p.Arg145Pro)
19g.53810808C>TCA9639595NLRP12c.851G>A (p.Arg284Gln)
c.683G>A (p.Arg228Gln)
c.434G>A (p.Arg145Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.53810809G>ACA115098NLRP12c.850C>T (p.Arg284Ter)
c.682C>T (p.Arg228Ter)
c.433C>T (p.Arg145Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.53810809G>CCA407415661NLRP12c.850C>G (p.Arg284Gly)
c.682C>G (p.Arg228Gly)
c.433C>G (p.Arg145Gly)
 gnomAD v4
19g.53810809G=CA2342536901NLRP12c.850C= (p.Arg284=)
c.682C= (p.Arg228=)
c.433C= (p.Arg145=)
19g.53810809G>TCA508854237NLRP12c.850C>A (p.Arg284=)
c.682C>A (p.Arg228=)
c.433C>A (p.Arg145=)
19g.53810810_53810813delCA2586956544NLRP12c.847_850del (p.Ile283GlufsTer?)
c.679_682del (p.Ile227GlufsTer?)
c.430_433del (p.Ile144GlufsTer?)
 gnomAD v4
19g.53810810G>ACA508854239NLRP12c.849C>T (p.Ile283=)
c.681C>T (p.Ile227=)
c.432C>T (p.Ile144=)
 COSMIC COSMIC
19g.53810810G>CCA407415662NLRP12c.849C>G (p.Ile283Met)
c.681C>G (p.Ile227Met)
c.432C>G (p.Ile144Met)
19g.53810810G>TCA508854240NLRP12c.849C>A (p.Ile283=)
c.681C>A (p.Ile227=)
c.432C>A (p.Ile144=)
19g.53810811A>CCA407415663NLRP12c.848T>G (p.Ile283Ser)
c.680T>G (p.Ile227Ser)
c.431T>G (p.Ile144Ser)
19g.53810811A>GCA407415664NLRP12c.848T>C (p.Ile283Thr)
c.680T>C (p.Ile227Thr)
c.431T>C (p.Ile144Thr)
19g.53810811A>TCA407415665NLRP12c.848T>A (p.Ile283Asn)
c.680T>A (p.Ile227Asn)
c.431T>A (p.Ile144Asn)
 gnomAD v4
19g.53810812T>ACA407415668NLRP12c.847A>T (p.Ile283Phe)
c.679A>T (p.Ile227Phe)
c.430A>T (p.Ile144Phe)
19g.53810812T>CCA407415666NLRP12c.847A>G (p.Ile283Val)
c.679A>G (p.Ile227Val)
c.430A>G (p.Ile144Val)
19g.53810812T>GCA407415667NLRP12c.847A>C (p.Ile283Leu)
c.679A>C (p.Ile227Leu)
c.430A>C (p.Ile144Leu)
 gnomAD v3 gnomAD v4
19g.53810813G>ACA508854241NLRP12c.846C>T (p.Leu282=)
c.678C>T (p.Leu226=)
c.429C>T (p.Leu143=)
19g.53810813G>CCA508854242NLRP12c.846C>G (p.Leu282=)
c.678C>G (p.Leu226=)
c.429C>G (p.Leu143=)
19g.53810813G>TCA508854244NLRP12c.846C>A (p.Leu282=)
c.678C>A (p.Leu226=)
c.429C>A (p.Leu143=)
19g.53810814A=CA2342536902NLRP12c.845T= (p.Leu282=)
c.677T= (p.Leu226=)
c.428T= (p.Leu143=)

Number of alleles fetched