Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.13885208T>A | CA401995507 | MC2R | c.311A>T (p.Asp104Val) | |
18 | g.13885208T>C | CA401995508 | MC2R | c.311A>G (p.Asp104Gly) | |
18 | g.13885208T>G | CA401995509 | MC2R | c.311A>C (p.Asp104Ala) | |
18 | g.13885209C>A | CA401995510 | MC2R | c.310G>T (p.Asp104Tyr) | |
18 | g.13885209C>G | CA401995511 | MC2R | c.310G>C (p.Asp104His) | |
18 | g.13885209C>T | CA401995512 | MC2R | c.310G>A (p.Asp104Asn) | COSMIC |
18 | g.13885210A= | CA2285919470 | MC2R | c.309T= (p.Asp103=) | |
18 | g.13885210A>C | CA401995513 | MC2R | c.309T>G (p.Asp103Glu) | |
18 | g.13885210A>G | CA503248578 | MC2R | c.309T>C (p.Asp103=) | |
18 | g.13885210A>T | CA296828868 | MC2R | c.309T>A (p.Asp103Glu) | dbSNP |
18 | g.13885211T>A | CA401995514 | MC2R | c.308A>T (p.Asp103Val) | |
18 | g.13885211T>C | CA401995515 | MC2R | c.308A>G (p.Asp103Gly) | gnomAD v4 |
18 | g.13885211T>G | CA401995516 | MC2R | c.308A>C (p.Asp103Ala) | |
18 | g.13885212C>A | CA401995517 | MC2R | c.307G>T (p.Asp103Tyr) | |
18 | g.13885212C= | CA2285919471 | MC2R | c.307G= (p.Asp103=) | |
18 | g.13885212C>G | CA401995518 | MC2R | c.307G>C (p.Asp103His) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13885212C>T | CA8902512 | MC2R | c.307G>A (p.Asp103Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885213G>A | CA8902513 | MC2R | c.306C>T (p.Ala102=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885213G>C | CA503248585 | MC2R | c.306C>G (p.Ala102=) | |
18 | g.13885213G= | CA2285919472 | MC2R | c.306C= (p.Ala102=) | |
18 | g.13885213G>T | CA503248586 | MC2R | c.306C>A (p.Ala102=) | |
18 | g.13885214G>A | CA401995519 | MC2R | c.305C>T (p.Ala102Val) | |
18 | g.13885214G>C | CA401995520 | MC2R | c.305C>G (p.Ala102Gly) | |
18 | g.13885214G>T | CA401995521 | MC2R | c.305C>A (p.Ala102Asp) | gnomAD v4 |
18 | g.13885215C>A | CA401995522 | MC2R | c.304G>T (p.Ala102Ser) | |
18 | g.13885215C= | CA2285919473 | MC2R | c.304G= (p.Ala102=) | |
18 | g.13885215C>G | CA401995523 | MC2R | c.304G>C (p.Ala102Pro) | |
18 | g.13885215C>T | CA401995524 | MC2R | c.304G>A (p.Ala102Thr) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13885216T>A | CA503248590 | MC2R | c.303A>T (p.Thr101=) | |
18 | g.13885216T>C | CA503248591 | MC2R | c.303A>G (p.Thr101=) | |
18 | g.13885216T>G | CA503248592 | MC2R | c.303A>C (p.Thr101=) | |
18 | g.13885216T= | CA2285919474 | MC2R | c.303A= (p.Thr101=) | |
18 | g.13885217G>A | CA401995526 | MC2R | c.302C>T (p.Thr101Ile) | |
18 | g.13885217G>C | CA401995527 | MC2R | c.302C>G (p.Thr101Arg) | |
18 | g.13885217G>T | CA401995525 | MC2R | c.302C>A (p.Thr101Lys) | |
18 | g.13885217dup | CA8902514 | MC2R | c.302dup (p.Ala102SerfsTer3) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13885218T>A | CA401995528 | MC2R | c.301A>T (p.Thr101Ser) | |
18 | g.13885218T>C | CA401995529 | MC2R | c.301A>G (p.Thr101Ala) | |
18 | g.13885218T>G | CA8902515 | MC2R | c.301A>C (p.Thr101Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13885218T= | CA2285919475 | MC2R | c.301A= (p.Thr101=) | |
18 | g.13885219G>A | CA503248597 | MC2R | c.300C>T (p.Thr100=) | gnomAD v4 |
18 | g.13885219G>C | CA503248600 | MC2R | c.300C>G (p.Thr100=) | |
18 | g.13885219G>T | CA503248598 | MC2R | c.300C>A (p.Thr100=) | |
18 | g.13885220G>A | CA401995530 | MC2R | c.299C>T (p.Thr100Ile) | |
18 | g.13885220G>C | CA401995531 | MC2R | c.299C>G (p.Thr100Ser) | |
18 | g.13885220G= | CA2285919476 | MC2R | c.299C= (p.Thr100=) | |
18 | g.13885220G>T | CA401995532 | MC2R | c.299C>A (p.Thr100Asn) | |
18 | g.13885220_13885221insGT | CA296828874 | MC2R | c.298_299insAC (p.Thr100AsnfsTer25) | dbSNP |
18 | g.13885221T>A | CA401995533 | MC2R | c.298A>T (p.Thr100Ser) | |
18 | g.13885221T>C | CA401995534 | MC2R | c.298A>G (p.Thr100Ala) |