Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.18122085A>CCA362827695NHLRC1c.522T>G (p.Ile174Met)
6g.18122085A>GCA448958143NHLRC1c.522T>C (p.Ile174=)
6g.18122085A>TCA448958144NHLRC1c.522T>A (p.Ile174=)
6g.18122086A>CCA362827700NHLRC1c.521T>G (p.Ile174Ser)
6g.18122086A>GCA362827697NHLRC1c.521T>C (p.Ile174Thr)
6g.18122086A>TCA362827698NHLRC1c.521T>A (p.Ile174Asn)
6g.18122087T>ACA362827702NHLRC1c.520A>T (p.Ile174Phe)
6g.18122087T>CCA362827705NHLRC1c.520A>G (p.Ile174Val)
gnomAD v4
6g.18122087T>GCA3649980NHLRC1c.520A>C (p.Ile174Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18122087T=CA1613536392NHLRC1c.520A= (p.Ile174=)
6g.18122087_18122088delinsTGCA1613536393NHLRC1c.519_520delinsCA (p.Asp173=)
6g.18122088delCA1613536394NHLRC1c.519del (p.Asp173GlufsTer?)
ClinVar dbSNP gnomAD v4
6g.18122088G>ACA448958149NHLRC1c.519C>T (p.Asp173=)
ClinVar gnomAD v4
6g.18122088G>CCA362827709NHLRC1c.519C>G (p.Asp173Glu)
6g.18122088G>TCA362827711NHLRC1c.519C>A (p.Asp173Glu)
6g.18122089T>ACA362827715NHLRC1c.518A>T (p.Asp173Val)
6g.18122089T>CCA362827716NHLRC1c.518A>G (p.Asp173Gly)
COSMIC
6g.18122089T>GCA362827718NHLRC1c.518A>C (p.Asp173Ala)
6g.18122090C>ACA362827721NHLRC1c.517G>T (p.Asp173Tyr)
6g.18122090C=CA1613536395NHLRC1c.517G= (p.Asp173=)
6g.18122090C>GCA362827723NHLRC1c.517G>C (p.Asp173His)
6g.18122090C>TCA362827726NHLRC1c.517G>A (p.Asp173Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.18122091T>ACA362827730NHLRC1c.516A>T (p.Gln172His)
6g.18122091T>CCA448958154NHLRC1c.516A>G (p.Gln172=)
6g.18122091T>GCA362827729NHLRC1c.516A>C (p.Gln172His)
6g.18122092T>ACA362827732NHLRC1c.515A>T (p.Gln172Leu)
gnomAD v4
6g.18122092T>CCA362827735NHLRC1c.515A>G (p.Gln172Arg)
ClinVar dbSNP
6g.18122092T>GCA362827737NHLRC1c.515A>C (p.Gln172Pro)
6g.18122092T=CA1613536396NHLRC1c.515A= (p.Gln172=)
6g.18122093G>ACA362827738NHLRC1c.514C>T (p.Gln172Ter)
dbSNP gnomAD v2 gnomAD v4
6g.18122093G>CCA362827740NHLRC1c.514C>G (p.Gln172Glu)
6g.18122093G=CA1613536397NHLRC1c.514C= (p.Gln172=)
6g.18122093G>TCA362827743NHLRC1c.514C>A (p.Gln172Lys)
6g.18122094G>ACA316010NHLRC1c.513C>T (p.Ala171=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18122094G>CCA448958163NHLRC1c.513C>G (p.Ala171=)
dbSNP gnomAD v4
6g.18122094G=CA1613536398NHLRC1c.513C= (p.Ala171=)
6g.18122094G>TCA448958164NHLRC1c.513C>A (p.Ala171=)
6g.18122094_18122095delinsAACA645551454NHLRC1c.512_513delinsTT (p.Ala171Val)
COSMIC
6g.18122095G>ACA362827748NHLRC1c.512C>T (p.Ala171Val)
gnomAD v4
6g.18122095G>CCA362827749NHLRC1c.512C>G (p.Ala171Gly)
6g.18122095G>TCA362827750NHLRC1c.512C>A (p.Ala171Asp)
6g.18122096C>ACA362827752NHLRC1c.511G>T (p.Ala171Ser)
6g.18122096C>GCA362827754NHLRC1c.511G>C (p.Ala171Pro)
6g.18122096C>TCA362827756NHLRC1c.511G>A (p.Ala171Thr)
6g.18122097A>CCA448958169NHLRC1c.510T>G (p.Ala170=)
6g.18122097A>GCA448958170NHLRC1c.510T>C (p.Ala170=)
6g.18122097A>TCA448958171NHLRC1c.510T>A (p.Ala170=)
6g.18122098G>ACA362827763NHLRC1c.509C>T (p.Ala170Val)
6g.18122098G>CCA362827759NHLRC1c.509C>G (p.Ala170Gly)
6g.18122098G>TCA362827761NHLRC1c.509C>A (p.Ala170Asp)

Number of alleles fetched