Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25164688G>A | CA425180706 | POMC | c.85C>T (p.Leu29=) | |
2 | g.25164688G>C | CA346067816 | POMC | c.85C>G (p.Leu29Val) | |
2 | g.25164688G>T | CA346067817 | POMC | c.85C>A (p.Leu29Met) | |
2 | g.25164689G>A | CA425180707 | POMC | c.84C>T (p.Cys28=) | |
2 | g.25164689G>C | CA346067818 | POMC | c.84C>G (p.Cys28Trp) | |
2 | g.25164689G= | CA1239231635 | POMC | c.84C= (p.Cys28=) | |
2 | g.25164689G>T | CA346067819 | POMC | c.84C>A (p.Cys28Ter) | ClinVar dbSNP |
2 | g.25164690C>A | CA1555408 | POMC | c.83G>T (p.Cys28Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164690C= | CA1239231641 | POMC | c.83G= (p.Cys28=) | |
2 | g.25164690C>G | CA346067821 | POMC | c.83G>C (p.Cys28Ser) | |
2 | g.25164690C>T | CA346067820 | POMC | c.83G>A (p.Cys28Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25164690_25164692delinsGT | CA2586968735 | POMC | c.81_83delinsAC (p.Trp27Ter) | |
2 | g.25164691A= | CA1239231650 | POMC | c.82T= (p.Cys28=) | |
2 | g.25164691A>C | CA346067822 | POMC | c.82T>G (p.Cys28Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25164691A>G | CA346067823 | POMC | c.82T>C (p.Cys28Arg) | |
2 | g.25164691A>T | CA346067824 | POMC | c.82T>A (p.Cys28Ser) | |
2 | g.25164691_25164695delinsACCAG | CA1239231652 | POMC | c.78_82delinsCTGGT (p.Gly26=) | |
2 | g.25164692C>A | CA346067825 | POMC | c.81G>T (p.Trp27Cys) | |
2 | g.25164692C>G | CA346067826 | POMC | c.81G>C (p.Trp27Cys) | gnomAD v4 |
2 | g.25164692C>T | CA346067827 | POMC | c.81G>A (p.Trp27Ter) | COSMIC |
2 | g.25164695_25164698del | CA1555409 | POMC | c.78_81del (p.Trp27AlafsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164693C>A | CA346067830 | POMC | c.80G>T (p.Trp27Leu) | |
2 | g.25164693C= | CA1239231663 | POMC | c.80G= (p.Trp27=) | |
2 | g.25164693C>G | CA346067829 | POMC | c.80G>C (p.Trp27Ser) | |
2 | g.25164693C>T | CA346067828 | POMC | c.80G>A (p.Trp27Ter) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25164694A>C | CA346067832 | POMC | c.79T>G (p.Trp27Gly) | |
2 | g.25164694A>G | CA346067831 | POMC | c.79T>C (p.Trp27Arg) | |
2 | g.25164694A>T | CA346067833 | POMC | c.79T>A (p.Trp27Arg) | |
2 | g.25164695G>A | CA425180708 | POMC | c.78C>T (p.Gly26=) | gnomAD v4 |
2 | g.25164695G>C | CA425180709 | POMC | c.78C>G (p.Gly26=) | |
2 | g.25164695G= | CA1239231667 | POMC | c.78C= (p.Gly26=) | |
2 | g.25164695G>T | CA425180710 | POMC | c.78C>A (p.Gly26=) | dbSNP |
2 | g.25164696C>A | CA346067834 | POMC | c.77G>T (p.Gly26Val) | |
2 | g.25164696C>G | CA346067835 | POMC | c.77G>C (p.Gly26Ala) | |
2 | g.25164696C>T | CA346067836 | POMC | c.77G>A (p.Gly26Asp) | |
2 | g.25164697C>A | CA346067837 | POMC | c.76G>T (p.Gly26Cys) | |
2 | g.25164697C>G | CA346067838 | POMC | c.76G>C (p.Gly26Arg) | |
2 | g.25164697C>T | CA346067839 | POMC | c.76G>A (p.Gly26Ser) | |
2 | g.25164698A>C | CA425180713 | POMC | c.75T>G (p.Arg25=) | |
2 | g.25164698A>G | CA425180711 | POMC | c.75T>C (p.Arg25=) | |
2 | g.25164698A>T | CA425180712 | POMC | c.75T>A (p.Arg25=) | |
2 | g.25164699C>A | CA346067840 | POMC | c.74G>T (p.Arg25Leu) | |
2 | g.25164699C= | CA1239231671 | POMC | c.74G= (p.Arg25=) | |
2 | g.25164699C>G | CA1555411 | POMC | c.74G>C (p.Arg25Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164699C>T | CA1555410 | POMC | c.74G>A (p.Arg25His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164700G>A | CA43686512 | POMC | c.73C>T (p.Arg25Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164700G>C | CA346067841 | POMC | c.73C>G (p.Arg25Gly) | |
2 | g.25164700G= | CA1239231677 | POMC | c.73C= (p.Arg25=) | |
2 | g.25164700G>T | CA346067842 | POMC | c.73C>A (p.Arg25Ser) | |
2 | g.25164701C>A | CA425180716 | POMC | c.72G>T (p.Val24=) |