Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.25161079C=CA1239226781POMCc.*2G= (n.*2G=)
2g.25161079C>TCA531358051POMCc.*2G>A (n.*2G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161081T>ACA346064725POMCc.804A>T (p.Ter268Cys)
2g.25161081T>CCA346064723POMCc.804A>G (p.Ter268Trp)
2g.25161081T>GCA346064727POMCc.804A>C (p.Ter268Cys)
2g.25161082C>ACA346064728POMCc.803G>T (p.Ter268Leu)
2g.25161082C=CA1239226784POMCc.803G= (p.Ter268=)
2g.25161082C>GCA346064730POMCc.803G>C (p.Ter268Ser)
2g.25161082C>TCA425179054POMCc.803G>A (p.Ter268=)
dbSNP
2g.25161083A=CA1239226789POMCc.802T= (p.Ter268=)
2g.25161083A>CCA346064732POMCc.802T>G (p.Ter268Gly)
2g.25161083A>GCA346064734POMCc.802T>C (p.Ter268Arg)
2g.25161083A>TCA43684277POMCc.802T>A (p.Ter268Arg)
dbSNP
2g.25161101_25161102insAACTCGCCCTTCTTGTAGGCCA2658163187POMCc.802_803insTGCCTACAAGAAGGGCGAGT (p.Ter268LeuextTer?)
gnomAD v4
2g.25161084C>ACA346064736POMCc.801G>T (p.Glu267Asp)
2g.25161084C=CA1239226793POMCc.801G= (p.Glu267=)
2g.25161084C>GCA346064737POMCc.801G>C (p.Glu267Asp)
2g.25161084C>TCA1555210POMCc.801G>A (p.Glu267=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161085T>ACA346064741POMCc.800A>T (p.Glu267Val)
2g.25161085T>CCA346064743POMCc.800A>G (p.Glu267Gly)
2g.25161085T>GCA346064744POMCc.800A>C (p.Glu267Ala)
2g.25161086C>ACA346064748POMCc.799G>T (p.Glu267Ter)
COSMIC
2g.25161086C>GCA346064750POMCc.799G>C (p.Glu267Gln)
2g.25161086C>TCA346064753POMCc.799G>A (p.Glu267Lys)
gnomAD v4 COSMIC
2g.25161086_25161098delinsCGCCCTTCTTGTACA1239226800POMCc.787_799delinsTACAAGAAGGGCG (p.Tyr263=)
2g.25161087G>ACA1555211POMCc.798C>T (p.Gly266=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.25161087G>CCA425179055POMCc.798C>G (p.Gly266=)
2g.25161087G=CA1239226805POMCc.798C= (p.Gly266=)
2g.25161087G>TCA425179056POMCc.798C>A (p.Gly266=)
2g.25161088_25161099delCA43684282POMCc.787_798del (p.Tyr263_Gly266del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161088C>ACA346064759POMCc.797G>T (p.Gly266Val)
2g.25161088C=CA1239226810POMCc.797G= (p.Gly266=)
2g.25161088C>GCA346064761POMCc.797G>C (p.Gly266Ala)
2g.25161088C>TCA346064763POMCc.797G>A (p.Gly266Asp)
dbSNP
2g.25161089C>ACA346064765POMCc.796G>T (p.Gly266Cys)
2g.25161089C=CA1239226812POMCc.796G= (p.Gly266=)
2g.25161089C>GCA346064767POMCc.796G>C (p.Gly266Arg)
2g.25161089C>TCA1555212POMCc.796G>A (p.Gly266Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161089_25161090insTACAAGAAGGGCCA531358056POMCc.796_797insCCCTTCTTGTAG (p.Lys265_Gly266insAlaLeuLeuVal)
dbSNP gnomAD v2 gnomAD v4
2g.25161090C>ACA346064770POMCc.795G>T (p.Lys265Asn)
2g.25161090C=CA1239226818POMCc.795G= (p.Lys265=)
2g.25161090C>GCA346064772POMCc.795G>C (p.Lys265Asn)
2g.25161090C>TCA1555213POMCc.795G>A (p.Lys265=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.25161090_25161102delinsCTTCTTGTAGGCGCA1239226820POMCc.783_795delinsCGCCTACAAGAAG (p.Asn261=)
2g.25161091T>ACA346066008POMCc.794A>T (p.Lys265Met)
2g.25161091T>CCA346066013POMCc.794A>G (p.Lys265Arg)
2g.25161091T>GCA346066015POMCc.794A>C (p.Lys265Thr)
2g.25161097_25161108delCA531760826POMCc.783_794del (p.Asn261_Lys264del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161092T>ACA346066019POMCc.793A>T (p.Lys265Ter)
2g.25161092T>CCA346066018POMCc.793A>G (p.Lys265Glu)

Number of alleles fetched