Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25161574_25161635del | CA2658163201 | POMC | c.250_311del (p.Trp84ArgfsTer14) | gnomAD v4 |
2 | g.25161634C>A | CA346067454 | POMC | c.251G>T (p.Trp84Leu) | |
2 | g.25161634C= | CA1239228257 | POMC | c.251G= (p.Trp84=) | |
2 | g.25161634C>G | CA346067455 | POMC | c.251G>C (p.Trp84Ser) | |
2 | g.25161634C>T | CA1555347 | POMC | c.251G>A (p.Trp84Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161635A= | CA1239228270 | POMC | c.250T= (p.Trp84=) | |
2 | g.25161635A>C | CA346067456 | POMC | c.250T>G (p.Trp84Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161635A>G | CA1555348 | POMC | c.250T>C (p.Trp84Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161635A>T | CA346067457 | POMC | c.250T>A (p.Trp84Arg) | |
2 | g.25161636G>A | CA425179920 | POMC | c.249C>T (p.Arg83=) | gnomAD v4 |
2 | g.25161636G>C | CA425179922 | POMC | c.249C>G (p.Arg83=) | |
2 | g.25161636G>T | CA425179923 | POMC | c.249C>A (p.Arg83=) | |
2 | g.25161637C>A | CA346067458 | POMC | c.248G>T (p.Arg83Leu) | gnomAD v4 |
2 | g.25161637C= | CA1239228284 | POMC | c.248G= (p.Arg83=) | |
2 | g.25161637C>G | CA346067459 | POMC | c.248G>C (p.Arg83Pro) | |
2 | g.25161637C>T | CA43684950 | POMC | c.248G>A (p.Arg83His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161638G>A | CA346067462 | POMC | c.247C>T (p.Arg83Cys) | |
2 | g.25161638G>C | CA346067461 | POMC | c.247C>G (p.Arg83Gly) | |
2 | g.25161638G>T | CA346067460 | POMC | c.247C>A (p.Arg83Ser) | |
2 | g.25161639G>A | CA425179931 | POMC | c.246C>T (p.Phe82=) | dbSNP gnomAD v4 |
2 | g.25161639G>C | CA346067463 | POMC | c.246C>G (p.Phe82Leu) | |
2 | g.25161639G>T | CA346067464 | POMC | c.246C>A (p.Phe82Leu) | gnomAD v4 |
2 | g.25161640A>C | CA346067465 | POMC | c.245T>G (p.Phe82Cys) | |
2 | g.25161640A>G | CA346067466 | POMC | c.245T>C (p.Phe82Ser) | gnomAD v4 |
2 | g.25161640A>T | CA346067467 | POMC | c.245T>A (p.Phe82Tyr) | |
2 | g.25161641A= | CA1239228290 | POMC | c.244T= (p.Phe82=) | |
2 | g.25161641A>C | CA1555349 | POMC | c.244T>G (p.Phe82Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161641A>G | CA346067468 | POMC | c.244T>C (p.Phe82Leu) | |
2 | g.25161641A>T | CA346067469 | POMC | c.244T>A (p.Phe82Ile) | |
2 | g.25161642G>A | CA1555350 | POMC | c.243C>T (p.His81=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161642G>C | CA346067470 | POMC | c.243C>G (p.His81Gln) | |
2 | g.25161642G= | CA1239228303 | POMC | c.243C= (p.His81=) | |
2 | g.25161642G>T | CA346067471 | POMC | c.243C>A (p.His81Gln) | |
2 | g.25161643T>A | CA346067472 | POMC | c.242A>T (p.His81Leu) | gnomAD v4 |
2 | g.25161643T>C | CA346067473 | POMC | c.242A>G (p.His81Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161643T>G | CA346067474 | POMC | c.242A>C (p.His81Pro) | |
2 | g.25161643T= | CA1239228307 | POMC | c.242A= (p.His81=) | |
2 | g.25161644G>A | CA346067477 | POMC | c.241C>T (p.His81Tyr) | gnomAD v4 |
2 | g.25161644G>C | CA346067475 | POMC | c.241C>G (p.His81Asp) | |
2 | g.25161644G>T | CA346067476 | POMC | c.241C>A (p.His81Asn) | |
2 | g.25161645G>A | CA425179951 | POMC | c.240C>T (p.Gly80=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161645G>C | CA425179952 | POMC | c.240C>G (p.Gly80=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161645G= | CA1239228312 | POMC | c.240C= (p.Gly80=) | |
2 | g.25161645G>T | CA425179954 | POMC | c.240C>A (p.Gly80=) | |
2 | g.25161646C>A | CA346067478 | POMC | c.239G>T (p.Gly80Val) | gnomAD v4 |
2 | g.25161646C>G | CA346067479 | POMC | c.239G>C (p.Gly80Ala) | |
2 | g.25161646C>T | CA346067480 | POMC | c.239G>A (p.Gly80Asp) | gnomAD v4 |
2 | g.25161647C>A | CA346067481 | POMC | c.238G>T (p.Gly80Cys) | gnomAD v4 |
2 | g.25161647C= | CA1239228319 | POMC | c.238G= (p.Gly80=) | |
2 | g.25161647C>G | CA346067482 | POMC | c.238G>C (p.Gly80Arg) |