Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25161641A= | CA1239228290 | POMC | c.244T= (p.Phe82=) | |
2 | g.25161641A>C | CA1555349 | POMC | c.244T>G (p.Phe82Val) | ClinVar 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) | |
2 | g.25161647C>T | CA346067483 | POMC | c.238G>A (p.Gly80Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161648C>A | CA346067484 | POMC | c.237G>T (p.Met79Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161648C= | CA1239228323 | POMC | c.237G= (p.Met79=) | |
2 | g.25161648C>G | CA346067485 | POMC | c.237G>C (p.Met79Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161648C>T | CA346067486 | POMC | c.237G>A (p.Met79Ile) | gnomAD v4 |
2 | g.25161649A>C | CA346067487 | POMC | c.236T>G (p.Met79Arg) | |
2 | g.25161649A>G | CA346067488 | POMC | c.236T>C (p.Met79Thr) | |
2 | g.25161649A>T | CA346067489 | POMC | c.236T>A (p.Met79Lys) | |
2 | g.25161649_25161662del | CA2576693518 | POMC | c.223_236del (p.Arg75GlyfsTer?) | |
2 | g.25161650T>A | CA346067492 | POMC | c.235A>T (p.Met79Leu) | |
2 | g.25161650T>C | CA346067491 | POMC | c.235A>G (p.Met79Val) | |
2 | g.25161650T>G | CA346067490 | POMC | c.235A>C (p.Met79Leu) | |
2 | g.25161651G>A | CA425179972 | POMC | c.234C>T (p.Val78=) | |
2 | g.25161651G>C | CA425179973 | POMC | c.234C>G (p.Val78=) | |
2 | g.25161651G= | CA1239228327 | POMC | c.234C= (p.Val78=) | |
2 | g.25161651G>T | CA425179975 | POMC | c.234C>A (p.Val78=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161652A>C | CA346067495 | POMC | c.233T>G (p.Val78Gly) | gnomAD v4 |
2 | g.25161652A>G | CA346067493 | POMC | c.233T>C (p.Val78Ala) | |
2 | g.25161652A>T | CA346067494 | POMC | c.233T>A (p.Val78Asp) | |
2 | g.25161653C>A | CA346067496 | POMC | c.232G>T (p.Val78Phe) | gnomAD v4 |
2 | g.25161653C>G | CA346067497 | POMC | c.232G>C (p.Val78Leu) | |
2 | g.25161653C>T | CA346067498 | POMC | c.232G>A (p.Val78Ile) | gnomAD v4 |
2 | g.25161654G>A | CA1555351 | POMC | c.231C>T (p.Tyr77=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161654G>C | CA346067499 | POMC | c.231C>G (p.Tyr77Ter) | |
2 | g.25161654G= | CA1239228329 | POMC | c.231C= (p.Tyr77=) |