Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25161036G>A | CA1028505096 | POMC | c.*45C>T (n.*45C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161036G= | CA1239226676 | POMC | c.*45C= (n.*45C=) | |
2 | g.25161036G>T | CA2658163088 | POMC | c.*45C>A (n.*45C>A) | gnomAD v4 |
2 | g.25161037G>A | CA1028505102 | POMC | c.*44C>T (n.*44C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161037G= | CA1239226677 | POMC | c.*44C= (n.*44C=) | |
2 | g.25161038T>C | CA2658163091 | POMC | c.*43A>G (n.*43A>G) | gnomAD v4 |
2 | g.25161039C>A | CA2658163095 | POMC | c.*42G>T (n.*42G>T) | gnomAD v4 |
2 | g.25161039C= | CA1239226679 | POMC | c.*42G= (n.*42G=) | |
2 | g.25161039C>G | CA2576693511 | POMC | c.*42G>C (n.*42G>C) | gnomAD v4 |
2 | g.25161039C>T | CA1555194 | POMC | c.*42G>A (n.*42G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.25161040G>A | CA43684183 | POMC | c.*41C>T (n.*41C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161040G= | CA1239226682 | POMC | c.*41C= (n.*41C=) | |
2 | g.25161040G>T | CA2658163099 | POMC | c.*41C>A (n.*41C>A) | gnomAD v4 |
2 | g.25161043C= | CA1239226686 | POMC | c.*38G= (n.*38G=) | |
2 | g.25161043C>G | CA1028505106 | POMC | c.*38G>C (n.*38G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161043C>T | CA1555195 | POMC | c.*38G>A (n.*38G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161045C= | CA1239226694 | POMC | c.*36G= (n.*36G=) | |
2 | g.25161045C>T | CA1555196 | POMC | c.*36G>A (n.*36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161047T>A | CA1239226700 | POMC | c.*34A>T (n.*34A>T) | dbSNP |
2 | g.25161047T>C | CA1555197 | POMC | c.*34A>G (n.*34A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161047T= | CA1239226697 | POMC | c.*34A= (n.*34A=) | |
2 | g.25161048G>A | CA43684210 | POMC | c.*33C>T (n.*33C>T) | dbSNP gnomAD v4 |
2 | g.25161048G>C | CA1555198 | POMC | c.*33C>G (n.*33C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161048G= | CA1239226704 | POMC | c.*33C= (n.*33C=) | |
2 | g.25161048G>T | CA646564871 | POMC | c.*33C>A (n.*33C>A) | gnomAD v4 COSMIC |
2 | g.25161052dup | CA2749203934 | POMC | c.*33dup (n.*33dup) | |
2 | g.25161049G>A | CA767172409 | POMC | c.*32C>T (n.*32C>T) | dbSNP |
2 | g.25161049G>C | CA1028505112 | POMC | c.*32C>G (n.*32C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161049G= | CA1239226708 | POMC | c.*32C= (n.*32C=) | |
2 | g.25161049G>T | CA2658163117 | POMC | c.*32C>A (n.*32C>A) | gnomAD v4 |
2 | g.25161050G>A | CA2658163120 | POMC | c.*31C>T (n.*31C>T) | gnomAD v4 |
2 | g.25161050G= | CA1239226711 | POMC | c.*31C= (n.*31C=) | |
2 | g.25161050G>T | CA1555199 | POMC | c.*31C>A (n.*31C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161051G>T | CA2658163124 | POMC | c.*30C>A (n.*30C>A) | gnomAD v4 |
2 | g.25161052G>A | CA2658163127 | POMC | c.*29C>T (n.*29C>T) | gnomAD v4 |
2 | g.25161052G>T | CA2658163128 | POMC | c.*29C>A (n.*29C>A) | gnomAD v4 |
2 | g.25161052_25161053delinsGA | CA1239226712 | POMC | c.*28_*29delinsTC (n.*28_*29delinsTC) | |
2 | g.25161053del | CA1555200 | POMC | c.*28del (n.*28del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161053A= | CA1239226717 | POMC | c.*28T= (n.*28T=) | |
2 | g.25161053A>G | CA1555201 | POMC | c.*28T>C (n.*28T>C) | dbSNP ExAC gnomAD v4 |
2 | g.25161054G>A | CA1239226720 | POMC | c.*27C>T (n.*27C>T) | dbSNP gnomAD v4 |
2 | g.25161054G= | CA1239226719 | POMC | c.*27C= (n.*27C=) | |
2 | g.25161056del | CA346064710 | POMC | c.*27del (n.*27del) | |
2 | g.25161055G= | CA1239226723 | POMC | c.*26C= (n.*26C=) | |
2 | g.25161055G>T | CA1555202 | POMC | c.*26C>A (n.*26C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161056G>C | CA43684236 | POMC | c.*25C>G (n.*25C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161056G= | CA1239226727 | POMC | c.*25C= (n.*25C=) | |
2 | g.25161056G>T | CA1555203 | POMC | c.*25C>A (n.*25C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161057T>A | CA2658163143 | POMC | c.*24A>T (n.*24A>T) | gnomAD v4 |
2 | g.25161057T>C | CA1555204 | POMC | c.*24A>G (n.*24A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |