Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25161453dup | CA3007428801 | POMC | c.433dup (p.Arg145ProfsTer18) | |
2 | g.25161453del | CA256769 | POMC | c.433del (p.Arg145AlafsTer13) | ClinVar dbSNP gnomAD v4 |
2 | g.25161453G>A | CA425353209 | POMC | c.432C>T (p.Phe144=) | gnomAD v4 |
2 | g.25161453G>C | CA346067073 | POMC | c.432C>G (p.Phe144Leu) | COSMIC |
2 | g.25161453G>T | CA346067072 | POMC | c.432C>A (p.Phe144Leu) | dbSNP gnomAD v4 |
2 | g.25161454A>C | CA346067074 | POMC | c.431T>G (p.Phe144Cys) | |
2 | g.25161454A>G | CA346067075 | POMC | c.431T>C (p.Phe144Ser) | |
2 | g.25161454A>T | CA346067076 | POMC | c.431T>A (p.Phe144Tyr) | |
2 | g.25161455A= | CA1239227534 | POMC | c.430T= (p.Phe144=) | |
2 | g.25161455A>C | CA346067077 | POMC | c.430T>G (p.Phe144Val) | COSMIC |
2 | g.25161455A>G | CA1555299 | POMC | c.430T>C (p.Phe144Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161455A>T | CA346067078 | POMC | c.430T>A (p.Phe144Ile) | |
2 | g.25161456G>A | CA1555301 | POMC | c.429C>T (p.His143=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161456G>C | CA1555300 | POMC | c.429C>G (p.His143Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161456G= | CA1239227536 | POMC | c.429C= (p.His143=) | |
2 | g.25161456G>T | CA346067079 | POMC | c.429C>A (p.His143Gln) | |
2 | g.25161457T>A | CA346067080 | POMC | c.428A>T (p.His143Leu) | |
2 | g.25161457T>C | CA346067081 | POMC | c.428A>G (p.His143Arg) | dbSNP gnomAD v4 |
2 | g.25161457T>G | CA346067082 | POMC | c.428A>C (p.His143Pro) | |
2 | g.25161457T= | CA1239227537 | POMC | c.428A= (p.His143=) | |
2 | g.25161458G>A | CA1555302 | POMC | c.427C>T (p.His143Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161458G>C | CA346067083 | POMC | c.427C>G (p.His143Asp) | |
2 | g.25161458G= | CA1239227538 | POMC | c.427C= (p.His143=) | |
2 | g.25161458G>T | CA346067084 | POMC | c.427C>A (p.His143Asn) | gnomAD v4 |
2 | g.25161459C>A | CA346067085 | POMC | c.426G>T (p.Glu142Asp) | |
2 | g.25161459C= | CA1239227539 | POMC | c.426G= (p.Glu142=) | |
2 | g.25161459C>G | CA346067086 | POMC | c.426G>C (p.Glu142Asp) | |
2 | g.25161459C>T | CA425353225 | POMC | c.426G>A (p.Glu142=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161460T>A | CA346067087 | POMC | c.425A>T (p.Glu142Val) | |
2 | g.25161460T>C | CA346067088 | POMC | c.425A>G (p.Glu142Gly) | ClinVar |
2 | g.25161460T>G | CA346067089 | POMC | c.425A>C (p.Glu142Ala) | |
2 | g.25161461C>A | CA346067092 | POMC | c.424G>T (p.Glu142Ter) | gnomAD v4 |
2 | g.25161461C>G | CA346067091 | POMC | c.424G>C (p.Glu142Gln) | |
2 | g.25161461C>T | CA346067090 | POMC | c.424G>A (p.Glu142Lys) | |
2 | g.25161462del | CA3007428802 | POMC | c.424del (p.Glu142SerfsTer16) | |
2 | g.25161462C>A | CA346067093 | POMC | c.423G>T (p.Met141Ile) | |
2 | g.25161462C>G | CA346067094 | POMC | c.423G>C (p.Met141Ile) | |
2 | g.25161462C>T | CA346067095 | POMC | c.423G>A (p.Met141Ile) | |
2 | g.25161463A>C | CA346067096 | POMC | c.422T>G (p.Met141Arg) | gnomAD v4 |
2 | g.25161463A>G | CA346067097 | POMC | c.422T>C (p.Met141Thr) | gnomAD v4 |
2 | g.25161463A>T | CA346067098 | POMC | c.422T>A (p.Met141Lys) | |
2 | g.25161464T>A | CA346067099 | POMC | c.421A>T (p.Met141Leu) | COSMIC |
2 | g.25161464T>C | CA346067100 | POMC | c.421A>G (p.Met141Val) | gnomAD v4 |
2 | g.25161464T>G | CA346067101 | POMC | c.421A>C (p.Met141Leu) | gnomAD v4 |
2 | g.25161465G>A | CA425353236 | POMC | c.420C>T (p.Ser140=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161465G>C | CA425353237 | POMC | c.420C>G (p.Ser140=) | |
2 | g.25161465G= | CA1239227541 | POMC | c.420C= (p.Ser140=) | |
2 | g.25161465G>T | CA425353238 | POMC | c.420C>A (p.Ser140=) | gnomAD v4 |
2 | g.25161466del | CA3007428803 | POMC | c.420del (p.Met141TrpfsTer17) | |
2 | g.25161466G>A | CA43684680 | POMC | c.419C>T (p.Ser140Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |