Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.56594609T>ACA118433NOGc.386T>A (p.Leu129Ter)
ClinVar dbSNP
17g.56594609T>CCA399965995NOGc.386T>C (p.Leu129Ser)
17g.56594609T>GCA399965997NOGc.386T>G (p.Leu129Trp)
17g.56594609T=CA2266876286NOGc.386T= (p.Leu129=)
17g.56594610G>ACA500985361NOGc.387G>A (p.Leu129=)
17g.56594610G>CCA399965999NOGc.387G>C (p.Leu129Phe)
17g.56594610G>TCA399966001NOGc.387G>T (p.Leu129Phe)
17g.56594611G>ACA399966003NOGc.388G>A (p.Ala130Thr)
gnomAD v4
17g.56594611G>CCA399966004NOGc.388G>C (p.Ala130Pro)
17g.56594611G>TCA399966005NOGc.388G>T (p.Ala130Ser)
17g.56594612C>ACA399966006NOGc.389C>A (p.Ala130Asp)
17g.56594612C=CA2266876287NOGc.389C= (p.Ala130=)
17g.56594612C>GCA399966007NOGc.389C>G (p.Ala130Gly)
17g.56594612C>TCA292532899NOGc.389C>T (p.Ala130Val)
dbSNP gnomAD v2 gnomAD v4
17g.56594613C>ACA500985366NOGc.390C>A (p.Ala130=)
17g.56594613C=CA2266876288NOGc.390C= (p.Ala130=)
17g.56594613C>GCA500985367NOGc.390C>G (p.Ala130=)
17g.56594613C>TCA8663200NOGc.390C>T (p.Ala130=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.56594614C>ACA399966009NOGc.391C>A (p.Gln131Lys)
17g.56594614C>GCA399966008NOGc.391C>G (p.Gln131Glu)
17g.56594614C>TCA399966010NOGc.391C>T (p.Gln131Ter)
17g.56594615A>CCA399966011NOGc.392A>C (p.Gln131Pro)
gnomAD v4
17g.56594615A>GCA399966013NOGc.392A>G (p.Gln131Arg)
17g.56594615A>TCA399966012NOGc.392A>T (p.Gln131Leu)
17g.56594616G>ACA8663201NOGc.393G>A (p.Gln131=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.56594616G>CCA399966014NOGc.393G>C (p.Gln131His)
17g.56594616G=CA2266876289NOGc.393G= (p.Gln131=)
17g.56594616G>TCA399966015NOGc.393G>T (p.Gln131His)
17g.56594617G>ACA399966016NOGc.394G>A (p.Gly132Ser)
dbSNP gnomAD v3 gnomAD v4
17g.56594617G>CCA399966017NOGc.394G>C (p.Gly132Arg)
17g.56594617G=CA2266876290NOGc.394G= (p.Gly132=)
17g.56594617G>TCA399966018NOGc.394G>T (p.Gly132Cys)
17g.56594617_56594634dupCA627152971NOGc.394_411dup (p.Leu137_Ser138insGlyLysLysGlnArgLeu)
dbSNP gnomAD v2 gnomAD v4
17g.56594618G>ACA399966019NOGc.395G>A (p.Gly132Asp)
dbSNP gnomAD v4
17g.56594618G>CCA399966020NOGc.395G>C (p.Gly132Ala)
17g.56594618G=CA2266876291NOGc.395G= (p.Gly132=)
17g.56594618G>TCA399966021NOGc.395G>T (p.Gly132Val)
dbSNP gnomAD v4
17g.56594619C>ACA500985373NOGc.396C>A (p.Gly132=)
ClinVar dbSNP
17g.56594619C>GCA500985371NOGc.396C>G (p.Gly132=)
17g.56594619C>TCA500985372NOGc.396C>T (p.Gly132=)
17g.56594620A>CCA399966022NOGc.397A>C (p.Lys133Gln)
17g.56594620A>GCA399966023NOGc.397A>G (p.Lys133Glu)
17g.56594620A>TCA399966024NOGc.397A>T (p.Lys133Ter)
17g.56594621A>CCA399966025NOGc.398A>C (p.Lys133Thr)
17g.56594621A>GCA399966027NOGc.398A>G (p.Lys133Arg)
17g.56594621A>TCA399966026NOGc.398A>T (p.Lys133Met)
gnomAD v4
17g.56594622G>ACA500985377NOGc.399G>A (p.Lys133=)
17g.56594622G>CCA399966028NOGc.399G>C (p.Lys133Asn)
17g.56594622G>TCA399966029NOGc.399G>T (p.Lys133Asn)
17g.56594623A>CCA399966030NOGc.400A>C (p.Lys134Gln)

Number of alleles fetched