Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25161079C= | CA1239226781 | POMC | c.*2G= (n.*2G=) | |
2 | g.25161079C>T | CA531358051 | POMC | c.*2G>A (n.*2G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161081T>A | CA346064725 | POMC | c.804A>T (p.Ter268Cys) | |
2 | g.25161081T>C | CA346064723 | POMC | c.804A>G (p.Ter268Trp) | |
2 | g.25161081T>G | CA346064727 | POMC | c.804A>C (p.Ter268Cys) | |
2 | g.25161082C>A | CA346064728 | POMC | c.803G>T (p.Ter268Leu) | |
2 | g.25161082C= | CA1239226784 | POMC | c.803G= (p.Ter268=) | |
2 | g.25161082C>G | CA346064730 | POMC | c.803G>C (p.Ter268Ser) | |
2 | g.25161082C>T | CA425179054 | POMC | c.803G>A (p.Ter268=) | dbSNP |
2 | g.25161083A= | CA1239226789 | POMC | c.802T= (p.Ter268=) | |
2 | g.25161083A>C | CA346064732 | POMC | c.802T>G (p.Ter268Gly) | |
2 | g.25161083A>G | CA346064734 | POMC | c.802T>C (p.Ter268Arg) | |
2 | g.25161083A>T | CA43684277 | POMC | c.802T>A (p.Ter268Arg) | dbSNP |
2 | g.25161101_25161102insAACTCGCCCTTCTTGTAGGC | CA2658163187 | POMC | c.802_803insTGCCTACAAGAAGGGCGAGT (p.Ter268LeuextTer?) | gnomAD v4 |
2 | g.25161084C>A | CA346064736 | POMC | c.801G>T (p.Glu267Asp) | |
2 | g.25161084C= | CA1239226793 | POMC | c.801G= (p.Glu267=) | |
2 | g.25161084C>G | CA346064737 | POMC | c.801G>C (p.Glu267Asp) | |
2 | g.25161084C>T | CA1555210 | POMC | c.801G>A (p.Glu267=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161085T>A | CA346064741 | POMC | c.800A>T (p.Glu267Val) | |
2 | g.25161085T>C | CA346064743 | POMC | c.800A>G (p.Glu267Gly) | |
2 | g.25161085T>G | CA346064744 | POMC | c.800A>C (p.Glu267Ala) | |
2 | g.25161086C>A | CA346064748 | POMC | c.799G>T (p.Glu267Ter) | COSMIC |
2 | g.25161086C>G | CA346064750 | POMC | c.799G>C (p.Glu267Gln) | |
2 | g.25161086C>T | CA346064753 | POMC | c.799G>A (p.Glu267Lys) | gnomAD v4 COSMIC |
2 | g.25161086_25161098delinsCGCCCTTCTTGTA | CA1239226800 | POMC | c.787_799delinsTACAAGAAGGGCG (p.Tyr263=) | |
2 | g.25161087G>A | CA1555211 | POMC | c.798C>T (p.Gly266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.25161087G>C | CA425179055 | POMC | c.798C>G (p.Gly266=) | |
2 | g.25161087G= | CA1239226805 | POMC | c.798C= (p.Gly266=) | |
2 | g.25161087G>T | CA425179056 | POMC | c.798C>A (p.Gly266=) | |
2 | g.25161088_25161099del | CA43684282 | POMC | c.787_798del (p.Tyr263_Gly266del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161088C>A | CA346064759 | POMC | c.797G>T (p.Gly266Val) | |
2 | g.25161088C= | CA1239226810 | POMC | c.797G= (p.Gly266=) | |
2 | g.25161088C>G | CA346064761 | POMC | c.797G>C (p.Gly266Ala) | |
2 | g.25161088C>T | CA346064763 | POMC | c.797G>A (p.Gly266Asp) | dbSNP |
2 | g.25161089C>A | CA346064765 | POMC | c.796G>T (p.Gly266Cys) | |
2 | g.25161089C= | CA1239226812 | POMC | c.796G= (p.Gly266=) | |
2 | g.25161089C>G | CA346064767 | POMC | c.796G>C (p.Gly266Arg) | |
2 | g.25161089C>T | CA1555212 | POMC | c.796G>A (p.Gly266Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161089_25161090insTACAAGAAGGGC | CA531358056 | POMC | c.796_797insCCCTTCTTGTAG (p.Lys265_Gly266insAlaLeuLeuVal) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161090C>A | CA346064770 | POMC | c.795G>T (p.Lys265Asn) | |
2 | g.25161090C= | CA1239226818 | POMC | c.795G= (p.Lys265=) | |
2 | g.25161090C>G | CA346064772 | POMC | c.795G>C (p.Lys265Asn) | |
2 | g.25161090C>T | CA1555213 | POMC | c.795G>A (p.Lys265=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25161090_25161102delinsCTTCTTGTAGGCG | CA1239226820 | POMC | c.783_795delinsCGCCTACAAGAAG (p.Asn261=) | |
2 | g.25161091T>A | CA346066008 | POMC | c.794A>T (p.Lys265Met) | |
2 | g.25161091T>C | CA346066013 | POMC | c.794A>G (p.Lys265Arg) | |
2 | g.25161091T>G | CA346066015 | POMC | c.794A>C (p.Lys265Thr) | |
2 | g.25161097_25161108del | CA531760826 | POMC | c.783_794del (p.Asn261_Lys264del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161092T>A | CA346066019 | POMC | c.793A>T (p.Lys265Ter) | |
2 | g.25161092T>C | CA346066018 | POMC | c.793A>G (p.Lys265Glu) |