Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25161101_25161102insAACTCGCCCTTCTTGTAGGC | CA2658163187 | POMC | c.802_803insTGCCTACAAGAAGGGCGAGT (p.Ter268LeuextTer?) | gnomAD v4 |
2 | g.25161086_25161098delinsCGCCCTTCTTGTA | CA1239226800 | POMC | c.787_799delinsTACAAGAAGGGCG (p.Tyr263=) | |
2 | g.25161088_25161099del | CA43684282 | POMC | c.787_798del (p.Tyr263_Gly266del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161090_25161102delinsCTTCTTGTAGGCG | CA1239226820 | POMC | c.783_795delinsCGCCTACAAGAAG (p.Asn261=) | |
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) | |
2 | g.25161092T>G | CA346066017 | POMC | c.793A>C (p.Lys265Gln) | |
2 | g.25161093C>A | CA346066022 | POMC | c.792G>T (p.Lys264Asn) | |
2 | g.25161093C= | CA1239226826 | POMC | c.792G= (p.Lys264=) | |
2 | g.25161093C>G | CA346066024 | POMC | c.792G>C (p.Lys264Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161093C>T | CA425352822 | POMC | c.792G>A (p.Lys264=) | |
2 | g.25161094T>A | CA346066025 | POMC | c.791A>T (p.Lys264Met) | |
2 | g.25161094T>C | CA346066026 | POMC | c.791A>G (p.Lys264Arg) | dbSNP |
2 | g.25161094T>G | CA346066029 | POMC | c.791A>C (p.Lys264Thr) | |
2 | g.25161094T= | CA1239226830 | POMC | c.791A= (p.Lys264=) | |
2 | g.25161095T>A | CA346066031 | POMC | c.790A>T (p.Lys264Ter) | |
2 | g.25161095T>C | CA346066033 | POMC | c.790A>G (p.Lys264Glu) | |
2 | g.25161095T>G | CA346066035 | POMC | c.790A>C (p.Lys264Gln) | |
2 | g.25161096G>A | CA425352827 | POMC | c.789C>T (p.Tyr263=) | |
2 | g.25161096G>C | CA346066036 | POMC | c.789C>G (p.Tyr263Ter) | gnomAD v4 |
2 | g.25161096G>T | CA346066038 | POMC | c.789C>A (p.Tyr263Ter) | |
2 | g.25161097T>A | CA346066040 | POMC | c.788A>T (p.Tyr263Phe) | |
2 | g.25161097T>C | CA346066041 | POMC | c.788A>G (p.Tyr263Cys) | gnomAD v4 |
2 | g.25161097T>G | CA346066042 | POMC | c.788A>C (p.Tyr263Ser) | |
2 | g.25161098A= | CA1239226833 | POMC | c.787T= (p.Tyr263=) | |
2 | g.25161098A>C | CA346066047 | POMC | c.787T>G (p.Tyr263Asp) | |
2 | g.25161098A>G | CA346066043 | POMC | c.787T>C (p.Tyr263His) | |
2 | g.25161098A>T | CA346066045 | POMC | c.787T>A (p.Tyr263Asn) | |
2 | g.25161099G>A | CA425352832 | POMC | c.786C>T (p.Ala262=) | dbSNP |
2 | g.25161099G>C | CA425352835 | POMC | c.786C>G (p.Ala262=) | |
2 | g.25161099G= | CA1239226837 | POMC | c.786C= (p.Ala262=) | |
2 | g.25161099G>T | CA425352834 | POMC | c.786C>A (p.Ala262=) | |
2 | g.25161099_25161111dup | CA916494168 | POMC | c.774_786dup (p.Tyr263HisfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161100G>A | CA346066049 | POMC | c.785C>T (p.Ala262Val) | |
2 | g.25161100G>C | CA346066051 | POMC | c.785C>G (p.Ala262Gly) | |
2 | g.25161100G>T | CA346066052 | POMC | c.785C>A (p.Ala262Asp) | |
2 | g.25161101C>A | CA346066053 | POMC | c.784G>T (p.Ala262Ser) | |
2 | g.25161101C= | CA1239226840 | POMC | c.784G= (p.Ala262=) | |
2 | g.25161101C>G | CA346066054 | POMC | c.784G>C (p.Ala262Pro) | |
2 | g.25161101C>T | CA1555214 | POMC | c.784G>A (p.Ala262Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25161102G>A | CA425352837 | POMC | c.783C>T (p.Asn261=) | dbSNP |
2 | g.25161102G>C | CA346066055 | POMC | c.783C>G (p.Asn261Lys) | gnomAD v4 |
2 | g.25161102G>T | CA346066056 | POMC | c.783C>A (p.Asn261Lys) | |
2 | g.25161103T>A | CA346066057 | POMC | c.782A>T (p.Asn261Ile) | |
2 | g.25161103T>C | CA346066058 | POMC | c.782A>G (p.Asn261Ser) | |
2 | g.25161103T>G | CA346066059 | POMC | c.782A>C (p.Asn261Thr) | |
2 | g.25161104T>A | CA346066062 | POMC | c.781A>T (p.Asn261Tyr) | |
2 | g.25161104T>C | CA346066061 | POMC | c.781A>G (p.Asn261Asp) | |
2 | g.25161104T>G | CA346066060 | POMC | c.781A>C (p.Asn261His) |