Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.13885111C>A | CA503248352 | MC2R | c.408G>T (p.Leu136=) | |
18 | g.13885111C>G | CA503248353 | MC2R | c.408G>C (p.Leu136=) | |
18 | g.13885111C>T | CA503248354 | MC2R | c.408G>A (p.Leu136=) | |
18 | g.13885112A>C | CA401995312 | MC2R | c.407T>G (p.Leu136Arg) | |
18 | g.13885112A>G | CA401995313 | MC2R | c.407T>C (p.Leu136Pro) | |
18 | g.13885112A>T | CA401995314 | MC2R | c.407T>A (p.Leu136Gln) | |
18 | g.13885113G>A | CA503248356 | MC2R | c.406C>T (p.Leu136=) | |
18 | g.13885113G>C | CA401995315 | MC2R | c.406C>G (p.Leu136Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885113G= | CA2285919428 | MC2R | c.406C= (p.Leu136=) | |
18 | g.13885113G>T | CA401995316 | MC2R | c.406C>A (p.Leu136Met) | |
18 | g.13885114T>A | CA503248360 | MC2R | c.405A>T (p.Ala135=) | |
18 | g.13885114T>C | CA503248362 | MC2R | c.405A>G (p.Ala135=) | gnomAD v4 |
18 | g.13885114T>G | CA503248363 | MC2R | c.405A>C (p.Ala135=) | |
18 | g.13885115G>A | CA401995317 | MC2R | c.404C>T (p.Ala135Val) | gnomAD v4 |
18 | g.13885115G>C | CA401995318 | MC2R | c.404C>G (p.Ala135Gly) | |
18 | g.13885115G>T | CA401995319 | MC2R | c.404C>A (p.Ala135Glu) | |
18 | g.13885116C>A | CA8902492 | MC2R | c.403G>T (p.Ala135Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
18 | g.13885116C= | CA2285919429 | MC2R | c.403G= (p.Ala135=) | |
18 | g.13885116C>G | CA401995320 | MC2R | c.403G>C (p.Ala135Pro) | gnomAD v4 |
18 | g.13885116C>T | CA8902491 | MC2R | c.403G>A (p.Ala135Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.13885117G>A | CA8902493 | MC2R | c.402C>T (p.His134=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.13885117G>C | CA401995321 | MC2R | c.402C>G (p.His134Gln) | |
18 | g.13885117G= | CA2285919430 | MC2R | c.402C= (p.His134=) | |
18 | g.13885117G>T | CA401995322 | MC2R | c.402C>A (p.His134Gln) | |
18 | g.13885118T>A | CA401995323 | MC2R | c.401A>T (p.His134Leu) | |
18 | g.13885118T>C | CA401995324 | MC2R | c.401A>G (p.His134Arg) | |
18 | g.13885118T>G | CA401995325 | MC2R | c.401A>C (p.His134Pro) | |
18 | g.13885119G>A | CA296828839 | MC2R | c.400C>T (p.His134Tyr) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13885119G>C | CA401995327 | MC2R | c.400C>G (p.His134Asp) | |
18 | g.13885119G= | CA2285919431 | MC2R | c.400C= (p.His134=) | |
18 | g.13885119G>T | CA401995326 | MC2R | c.400C>A (p.His134Asn) | |
18 | g.13885120G>A | CA503248370 | MC2R | c.399C>T (p.Phe133=) | COSMIC |
18 | g.13885120G>C | CA401995328 | MC2R | c.399C>G (p.Phe133Leu) | gnomAD v4 |
18 | g.13885120G>T | CA401995329 | MC2R | c.399C>A (p.Phe133Leu) | |
18 | g.13885121A= | CA2285919432 | MC2R | c.398T= (p.Phe133=) | |
18 | g.13885121A>C | CA8902494 | MC2R | c.398T>G (p.Phe133Cys) | dbSNP ExAC gnomAD v2 |
18 | g.13885121A>G | CA401995330 | MC2R | c.398T>C (p.Phe133Ser) | |
18 | g.13885121A>T | CA401995331 | MC2R | c.398T>A (p.Phe133Tyr) | |
18 | g.13885122A>C | CA401995334 | MC2R | c.397T>G (p.Phe133Val) | |
18 | g.13885122A>G | CA401995333 | MC2R | c.397T>C (p.Phe133Leu) | |
18 | g.13885122A>T | CA401995332 | MC2R | c.397T>A (p.Phe133Ile) | |
18 | g.13885123G>A | CA503248376 | MC2R | c.396C>T (p.Ile132=) | gnomAD v4 |
18 | g.13885123G>C | CA401995335 | MC2R | c.396C>G (p.Ile132Met) | |
18 | g.13885123G>T | CA503248380 | MC2R | c.396C>A (p.Ile132=) | |
18 | g.13885124A>C | CA401995336 | MC2R | c.395T>G (p.Ile132Ser) | |
18 | g.13885124A>G | CA401995337 | MC2R | c.395T>C (p.Ile132Thr) | |
18 | g.13885124A>T | CA401995338 | MC2R | c.395T>A (p.Ile132Asn) | |
18 | g.13885124_13885125delinsAT | CA2285919433 | MC2R | c.394_395delinsAT (p.Ile132=) | |
18 | g.13885125del | CA988025348 | MC2R | c.394del (p.Ile132SerfsTer11) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13885125T>A | CA401995339 | MC2R | c.394A>T (p.Ile132Phe) |