Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25161489_25161491delinsCGG | CA1239227583 | POMC | c.394_396delinsCCG (p.Pro132=) | |
2 | g.25161490G>A | CA43684703 | POMC | c.395C>T (p.Pro132Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.25161490G>C | CA346067156 | POMC | c.395C>G (p.Pro132Arg) | |
2 | g.25161490G= | CA1239227587 | POMC | c.395C= (p.Pro132=) | |
2 | g.25161490G>T | CA346067157 | POMC | c.395C>A (p.Pro132Gln) | gnomAD v4 |
2 | g.25161492del | CA2658163197 | POMC | c.395del (p.Pro132ArgfsTer26) | gnomAD v4 |
2 | g.25161491_25161492del | CA43684708 | POMC | c.394_395del (p.Pro132AlafsTer30) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161491G>A | CA346067158 | POMC | c.394C>T (p.Pro132Ser) | |
2 | g.25161491G>C | CA1555306 | POMC | c.394C>G (p.Pro132Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161491G= | CA1239227593 | POMC | c.394C= (p.Pro132=) | |
2 | g.25161491G>T | CA346067159 | POMC | c.394C>A (p.Pro132Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161492G>A | CA425353421 | POMC | c.393C>T (p.Gly131=) | gnomAD v4 |
2 | g.25161492G>C | CA425353419 | POMC | c.393C>G (p.Gly131=) | |
2 | g.25161492G= | CA1239227601 | POMC | c.393C= (p.Gly131=) | |
2 | g.25161492G>T | CA43684714 | POMC | c.393C>A (p.Gly131=) | dbSNP gnomAD v4 |
2 | g.25161493C>A | CA346067160 | POMC | c.392G>T (p.Gly131Val) | gnomAD v4 |
2 | g.25161493C= | CA1239227605 | POMC | c.392G= (p.Gly131=) | |
2 | g.25161493C>G | CA346067161 | POMC | c.392G>C (p.Gly131Ala) | |
2 | g.25161493C>T | CA346067162 | POMC | c.392G>A (p.Gly131Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161494C>A | CA346067163 | POMC | c.391G>T (p.Gly131Cys) | |
2 | g.25161494C= | CA1239227609 | POMC | c.391G= (p.Gly131=) | |
2 | g.25161494C>G | CA346067164 | POMC | c.391G>C (p.Gly131Arg) | |
2 | g.25161494C>T | CA346067165 | POMC | c.391G>A (p.Gly131Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161495C>A | CA425353427 | POMC | c.390G>T (p.Pro130=) | |
2 | g.25161495C= | CA1239227612 | POMC | c.390G= (p.Pro130=) | |
2 | g.25161495C>G | CA425353428 | POMC | c.390G>C (p.Pro130=) | |
2 | g.25161495C>T | CA43684718 | POMC | c.390G>A (p.Pro130=) | dbSNP gnomAD v4 |
2 | g.25161496G>A | CA346067168 | POMC | c.389C>T (p.Pro130Leu) | ClinVar dbSNP |
2 | g.25161496G>C | CA346067166 | POMC | c.389C>G (p.Pro130Arg) | |
2 | g.25161496G= | CA1239227615 | POMC | c.389C= (p.Pro130=) | |
2 | g.25161496G>T | CA346067167 | POMC | c.389C>A (p.Pro130Gln) | gnomAD v4 |
2 | g.25161497del | CA2658163198 | POMC | c.389del (p.Pro130ArgfsTer28) | gnomAD v4 |
2 | g.25161497G>A | CA346067169 | POMC | c.388C>T (p.Pro130Ser) | gnomAD v4 |
2 | g.25161497G>C | CA346067170 | POMC | c.388C>G (p.Pro130Ala) | dbSNP |
2 | g.25161497G= | CA1239227618 | POMC | c.388C= (p.Pro130=) | |
2 | g.25161497G>T | CA346067171 | POMC | c.388C>A (p.Pro130Thr) | gnomAD v4 |
2 | g.25161498C>A | CA346067172 | POMC | c.387G>T (p.Lys129Asn) | |
2 | g.25161498C>G | CA346067173 | POMC | c.387G>C (p.Lys129Asn) | |
2 | g.25161498C>T | CA425353438 | POMC | c.387G>A (p.Lys129=) | COSMIC |
2 | g.25161499T>A | CA346067174 | POMC | c.386A>T (p.Lys129Met) | |
2 | g.25161499T>C | CA346067175 | POMC | c.386A>G (p.Lys129Arg) | |
2 | g.25161499T>G | CA346067176 | POMC | c.386A>C (p.Lys129Thr) | |
2 | g.25161500T>A | CA346067177 | POMC | c.385A>T (p.Lys129Ter) | |
2 | g.25161500T>C | CA346067178 | POMC | c.385A>G (p.Lys129Glu) | |
2 | g.25161500T>G | CA346067179 | POMC | c.385A>C (p.Lys129Gln) | |
2 | g.25161501G>A | CA425353443 | POMC | c.384C>T (p.Ala128=) | gnomAD v4 |
2 | g.25161501G>C | CA425353444 | POMC | c.384C>G (p.Ala128=) | |
2 | g.25161501G>T | CA425353446 | POMC | c.384C>A (p.Ala128=) | |
2 | g.25161502G>A | CA43684721 | POMC | c.383C>T (p.Ala128Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161502G>C | CA346067181 | POMC | c.383C>G (p.Ala128Gly) | dbSNP gnomAD v3 gnomAD v4 |