| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.60371727A= | CA2307359106 | MC4R | c.623T= (p.Met208=) | |
| 18 | g.60371727A>C | CA402719416 | MC4R | c.623T>G (p.Met208Arg) | |
| 18 | g.60371727A>G | CA402719417 | MC4R | c.623T>C (p.Met208Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371727A>T | CA402719415 | MC4R | c.623T>A (p.Met208Lys) | |
| 18 | g.60371728T>A | CA402719418 | MC4R | c.622A>T (p.Met208Leu) | |
| 18 | g.60371728T>C | CA8980881 | MC4R | c.622A>G (p.Met208Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371728T>G | CA402719419 | MC4R | c.622A>C (p.Met208Leu) | gnomAD v4 |
| 18 | g.60371728T= | CA2307359107 | MC4R | c.622A= (p.Met208=) | |
| 18 | g.60371729G>A | CA504305528 | MC4R | c.621C>T (p.Leu207=) | |
| 18 | g.60371729G>C | CA504305529 | MC4R | c.621C>G (p.Leu207=) | |
| 18 | g.60371729G>T | CA504305530 | MC4R | c.621C>A (p.Leu207=) | |
| 18 | g.60371730A>C | CA402719420 | MC4R | c.620T>G (p.Leu207Arg) | |
| 18 | g.60371730A>G | CA402719421 | MC4R | c.620T>C (p.Leu207Pro) | |
| 18 | g.60371730A>T | CA402719422 | MC4R | c.620T>A (p.Leu207His) | |
| 18 | g.60371731G>A | CA402719423 | MC4R | c.619C>T (p.Leu207Phe) | |
| 18 | g.60371731G>C | CA8980882 | MC4R | c.619C>G (p.Leu207Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371731G= | CA2307359108 | MC4R | c.619C= (p.Leu207=) | |
| 18 | g.60371731G>T | CA402719424 | MC4R | c.619C>A (p.Leu207Ile) | |
| 18 | g.60371732A>C | CA504305532 | MC4R | c.618T>G (p.Ala206=) | |
| 18 | g.60371732A>G | CA504305533 | MC4R | c.618T>C (p.Ala206=) | |
| 18 | g.60371732A>T | CA504305534 | MC4R | c.618T>A (p.Ala206=) | |
| 18 | g.60371733G>A | CA402719425 | MC4R | c.617C>T (p.Ala206Val) | |
| 18 | g.60371733G>C | CA402719426 | MC4R | c.617C>G (p.Ala206Gly) | |
| 18 | g.60371733G>T | CA402719427 | MC4R | c.617C>A (p.Ala206Asp) | |
| 18 | g.60371734C>A | CA402719429 | MC4R | c.616G>T (p.Ala206Ser) | gnomAD v4 |
| 18 | g.60371734C>G | CA402719430 | MC4R | c.616G>C (p.Ala206Pro) | |
| 18 | g.60371734C>T | CA402719428 | MC4R | c.616G>A (p.Ala206Thr) | |
| 18 | g.60371735C>A | CA504305538 | MC4R | c.615G>T (p.Leu205=) | |
| 18 | g.60371735C>G | CA504305539 | MC4R | c.615G>C (p.Leu205=) | |
| 18 | g.60371735C>T | CA504305540 | MC4R | c.615G>A (p.Leu205=) | |
| 18 | g.60371736A>C | CA402719431 | MC4R | c.614T>G (p.Leu205Arg) | |
| 18 | g.60371736A>G | CA402719432 | MC4R | c.614T>C (p.Leu205Pro) | |
| 18 | g.60371736A>T | CA402719433 | MC4R | c.614T>A (p.Leu205Gln) | dbSNP |
| 18 | g.60371737_60371748dup | CA2642029298 | MC4R | c.603_614dup (p.Leu205_Ala206insPheThrMetLeu) | gnomAD v4 |
| 18 | g.60371737G>A | CA504305543 | MC4R | c.613C>T (p.Leu205=) | |
| 18 | g.60371737G>C | CA402719434 | MC4R | c.613C>G (p.Leu205Val) | |
| 18 | g.60371737G>T | CA402719435 | MC4R | c.613C>A (p.Leu205Met) | |
| 18 | g.60371738C>A | CA402719438 | MC4R | c.612G>T (p.Met204Ile) | |
| 18 | g.60371738C= | CA2307359109 | MC4R | c.612G= (p.Met204=) | |
| 18 | g.60371738C>G | CA402719437 | MC4R | c.612G>C (p.Met204Ile) | |
| 18 | g.60371738C>T | CA402719436 | MC4R | c.612G>A (p.Met204Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371746_60371757del | CA2695227733 | MC4R | c.601_612del (p.Phe201_Met204del) | |
| 18 | g.60371739A= | CA2307359110 | MC4R | c.611T= (p.Met204=) | |
| 18 | g.60371739A>C | CA402719439 | MC4R | c.611T>G (p.Met204Arg) | |
| 18 | g.60371739A>G | CA402719440 | MC4R | c.611T>C (p.Met204Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371739A>T | CA402719441 | MC4R | c.611T>A (p.Met204Lys) | |
| 18 | g.60371740T>A | CA402719442 | MC4R | c.610A>T (p.Met204Leu) | dbSNP gnomAD v4 COSMIC |
| 18 | g.60371740T>C | CA402719443 | MC4R | c.610A>G (p.Met204Val) | |
| 18 | g.60371740T>G | CA402719444 | MC4R | c.610A>C (p.Met204Leu) | |
| 18 | g.60371740T= | CA2307359111 | MC4R | c.610A= (p.Met204=) |