Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.13885079G>A | CA401995249 | MC2R | c.440C>T (p.Thr147Ile) | COSMIC |
18 | g.13885079G>C | CA8902476 | MC2R | c.440C>G (p.Thr147Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13885079G= | CA2285919410 | MC2R | c.440C= (p.Thr147=) | |
18 | g.13885079G>T | CA401995250 | MC2R | c.440C>A (p.Thr147Asn) | |
18 | g.13885080T>A | CA401995253 | MC2R | c.439A>T (p.Thr147Ser) | |
18 | g.13885080T>C | CA401995252 | MC2R | c.439A>G (p.Thr147Ala) | gnomAD v4 |
18 | g.13885080T>G | CA401995251 | MC2R | c.439A>C (p.Thr147Pro) | |
18 | g.13885081G>A | CA503248294 | MC2R | c.438C>T (p.Arg146=) | |
18 | g.13885081G>C | CA503248296 | MC2R | c.438C>G (p.Arg146=) | |
18 | g.13885081G>T | CA503248297 | MC2R | c.438C>A (p.Arg146=) | |
18 | g.13885082C>A | CA401995254 | MC2R | c.437G>T (p.Arg146Leu) | dbSNP gnomAD v2 COSMIC |
18 | g.13885082C= | CA2285919411 | MC2R | c.437G= (p.Arg146=) | |
18 | g.13885082C>G | CA401995255 | MC2R | c.437G>C (p.Arg146Pro) | gnomAD v4 |
18 | g.13885082C>T | CA8902477 | MC2R | c.437G>A (p.Arg146His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.13885083G>A | CA8902478 | MC2R | c.436C>T (p.Arg146Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13885083G>C | CA401995256 | MC2R | c.436C>G (p.Arg146Gly) | |
18 | g.13885083G= | CA2285919412 | MC2R | c.436C= (p.Arg146=) | |
18 | g.13885083G>T | CA401995257 | MC2R | c.436C>A (p.Arg146Ser) | |
18 | g.13885084G>A | CA8902479 | MC2R | c.435C>T (p.Arg145=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885084G>C | CA503248302 | MC2R | c.435C>G (p.Arg145=) | |
18 | g.13885084G= | CA2285919413 | MC2R | c.435C= (p.Arg145=) | |
18 | g.13885084G>T | CA503248303 | MC2R | c.435C>A (p.Arg145=) | |
18 | g.13885085C>A | CA401995258 | MC2R | c.434G>T (p.Arg145Leu) | |
18 | g.13885085C= | CA2285919414 | MC2R | c.434G= (p.Arg145=) | |
18 | g.13885085C>G | CA401995259 | MC2R | c.434G>C (p.Arg145Pro) | |
18 | g.13885085C>T | CA401995260 | MC2R | c.434G>A (p.Arg145His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.13885086G>A | CA296828806 | MC2R | c.433C>T (p.Arg145Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885086G>C | CA401995261 | MC2R | c.433C>G (p.Arg145Gly) | |
18 | g.13885086G= | CA2285919415 | MC2R | c.433C= (p.Arg145=) | |
18 | g.13885086G>T | CA401995262 | MC2R | c.433C>A (p.Arg145Ser) | dbSNP |
18 | g.13885087C>A | CA401995265 | MC2R | c.432G>T (p.Met144Ile) | |
18 | g.13885087C>G | CA401995263 | MC2R | c.432G>C (p.Met144Ile) | |
18 | g.13885087C>T | CA401995264 | MC2R | c.432G>A (p.Met144Ile) | gnomAD v4 COSMIC |
18 | g.13885088A= | CA2285919416 | MC2R | c.431T= (p.Met144=) | |
18 | g.13885088A>C | CA401995266 | MC2R | c.431T>G (p.Met144Arg) | |
18 | g.13885088A>G | CA8902480 | MC2R | c.431T>C (p.Met144Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13885088A>T | CA401995267 | MC2R | c.431T>A (p.Met144Lys) | |
18 | g.13885089T>A | CA401995268 | MC2R | c.430A>T (p.Met144Leu) | gnomAD v4 COSMIC |
18 | g.13885089T>C | CA401995269 | MC2R | c.430A>G (p.Met144Val) | |
18 | g.13885089T>G | CA401995270 | MC2R | c.430A>C (p.Met144Leu) | |
18 | g.13885090G>A | CA8902481 | MC2R | c.429C>T (p.Thr143=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885090G>C | CA503248312 | MC2R | c.429C>G (p.Thr143=) | |
18 | g.13885090G= | CA2285919417 | MC2R | c.429C= (p.Thr143=) | |
18 | g.13885090G>T | CA8902482 | MC2R | c.429C>A (p.Thr143=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13885091G>A | CA401995271 | MC2R | c.428C>T (p.Thr143Ile) | |
18 | g.13885091G>C | CA401995272 | MC2R | c.428C>G (p.Thr143Ser) | |
18 | g.13885091G>T | CA401995273 | MC2R | c.428C>A (p.Thr143Asn) | |
18 | g.13885092T>A | CA401995276 | MC2R | c.427A>T (p.Thr143Ser) | |
18 | g.13885092T>C | CA401995275 | MC2R | c.427A>G (p.Thr143Ala) | |
18 | g.13885092T>G | CA401995274 | MC2R | c.427A>C (p.Thr143Pro) | |
18 | g.13885093C>A | CA503248318 | MC2R | c.426G>T (p.Val142=) | |
18 | g.13885093C>G | CA503248319 | MC2R | c.426G>C (p.Val142=) | |
18 | g.13885093C>T | CA503248321 | MC2R | c.426G>A (p.Val142=) | |
18 | g.13885094A>C | CA401995277 | MC2R | c.425T>G (p.Val142Gly) | |
18 | g.13885094A>G | CA401995279 | MC2R | c.425T>C (p.Val142Ala) | |
18 | g.13885094A>T | CA401995278 | MC2R | c.425T>A (p.Val142Glu) | |
18 | g.13885095C>A | CA401995280 | MC2R | c.424G>T (p.Val142Leu) | ClinVar dbSNP gnomAD v4 |
18 | g.13885095C= | CA2285919418 | MC2R | c.424G= (p.Val142=) | |
18 | g.13885095C>G | CA401995281 | MC2R | c.424G>C (p.Val142Leu) | gnomAD v4 |
18 | g.13885095C>T | CA8902483 | MC2R | c.424G>A (p.Val142Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885096G>A | CA8902484 | MC2R | c.423C>T (p.Ile141=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.13885096G>C | CA296828818 | MC2R | c.423C>G (p.Ile141Met) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13885096G= | CA2285919419 | MC2R | c.423C= (p.Ile141=) | |
18 | g.13885096G>T | CA503248324 | MC2R | c.423C>A (p.Ile141=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13885097A>C | CA401995282 | MC2R | c.422T>G (p.Ile141Ser) | |
18 | g.13885097A>G | CA401995283 | MC2R | c.422T>C (p.Ile141Thr) | |
18 | g.13885097A>T | CA401995284 | MC2R | c.422T>A (p.Ile141Asn) | gnomAD v4 |
18 | g.13885098T>A | CA401995285 | MC2R | c.421A>T (p.Ile141Phe) | gnomAD v4 |
18 | g.13885098T>C | CA401995286 | MC2R | c.421A>G (p.Ile141Val) | gnomAD v4 |
18 | g.13885098T>G | CA401995287 | MC2R | c.421A>C (p.Ile141Leu) | |
18 | g.13885099G>A | CA503248331 | MC2R | c.420C>T (p.Ser140=) | gnomAD v4 |
18 | g.13885099G>C | CA401995288 | MC2R | c.420C>G (p.Ser140Arg) | gnomAD v4 |
18 | g.13885099G>T | CA401995289 | MC2R | c.420C>A (p.Ser140Arg) | |
18 | g.13885100C>A | CA401995290 | MC2R | c.419G>T (p.Ser140Ile) | |
18 | g.13885100C= | CA2285919420 | MC2R | c.419G= (p.Ser140=) | |
18 | g.13885100C>G | CA401995291 | MC2R | c.419G>C (p.Ser140Thr) | |
18 | g.13885100C>T | CA8902485 | MC2R | c.419G>A (p.Ser140Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885101T>A | CA401995294 | MC2R | c.418A>T (p.Ser140Cys) | |
18 | g.13885101T>C | CA401995292 | MC2R | c.418A>G (p.Ser140Gly) | |
18 | g.13885101T>G | CA401995293 | MC2R | c.418A>C (p.Ser140Arg) | |
18 | g.13885102G>A | CA503248336 | MC2R | c.417C>T (p.His139=) | gnomAD v4 |
18 | g.13885102G>C | CA8902486 | MC2R | c.417C>G (p.His139Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885102G= | CA2285919421 | MC2R | c.417C= (p.His139=) | |
18 | g.13885102G>T | CA401995295 | MC2R | c.417C>A (p.His139Gln) | |
18 | g.13885103T>A | CA401995296 | MC2R | c.416A>T (p.His139Leu) | |
18 | g.13885103T>C | CA8902487 | MC2R | c.416A>G (p.His139Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13885103T>G | CA401995297 | MC2R | c.416A>C (p.His139Pro) | |
18 | g.13885103T= | CA2285919422 | MC2R | c.416A= (p.His139=) | |
18 | g.13885104G>A | CA401995298 | MC2R | c.415C>T (p.His139Tyr) | |
18 | g.13885104G>C | CA401995299 | MC2R | c.415C>G (p.His139Asp) | |
18 | g.13885104G>T | CA401995300 | MC2R | c.415C>A (p.His139Asn) | |
18 | g.13885105G>A | CA503248342 | MC2R | c.414C>T (p.Tyr138=) | |
18 | g.13885105G>C | CA8902488 | MC2R | c.414C>G (p.Tyr138Ter) | dbSNP ExAC gnomAD v2 |
18 | g.13885105G= | CA2285919423 | MC2R | c.414C= (p.Tyr138=) | |
18 | g.13885105G>T | CA401995301 | MC2R | c.414C>A (p.Tyr138Ter) | |
18 | g.13885106T>A | CA401995303 | MC2R | c.413A>T (p.Tyr138Phe) | dbSNP |
18 | g.13885106T>C | CA401995304 | MC2R | c.413A>G (p.Tyr138Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885106T>G | CA401995302 | MC2R | c.413A>C (p.Tyr138Ser) | |
18 | g.13885106T= | CA2285919424 | MC2R | c.413A= (p.Tyr138=) | |
18 | g.13885107A>C | CA401995305 | MC2R | c.412T>G (p.Tyr138Asp) | |
18 | g.13885107A>G | CA401995306 | MC2R | c.412T>C (p.Tyr138His) | |
18 | g.13885107A>T | CA401995307 | MC2R | c.412T>A (p.Tyr138Asn) | |
18 | g.13885108C>A | CA503248344 | MC2R | c.411G>T (p.Arg137=) | |
18 | g.13885108C= | CA2285919425 | MC2R | c.411G= (p.Arg137=) | |
18 | g.13885108C>G | CA8902489 | MC2R | c.411G>C (p.Arg137=) | dbSNP ExAC |
18 | g.13885108C>T | CA503248347 | MC2R | c.411G>A (p.Arg137=) | gnomAD v4 |
18 | g.13885109C>A | CA401995308 | MC2R | c.410G>T (p.Arg137Leu) | |
18 | g.13885109C= | CA2285919426 | MC2R | c.410G= (p.Arg137=) | |
18 | g.13885109C>G | CA401995309 | MC2R | c.410G>C (p.Arg137Pro) | ClinVar dbSNP |
18 | g.13885109C>T | CA401995310 | MC2R | c.410G>A (p.Arg137Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.13885110G>A | CA116123 | MC2R | c.409C>T (p.Arg137Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.13885110G>C | CA401995311 | MC2R | c.409C>G (p.Arg137Gly) | |
18 | g.13885110G= | CA2285919427 | MC2R | c.409C= (p.Arg137=) | |
18 | g.13885110G>T | CA8902490 | MC2R | c.409C>A (p.Arg137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
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) | |
18 | g.13885125T>C | CA401995340 | MC2R | c.394A>G (p.Ile132Val) | |
18 | g.13885125T>G | CA401995341 | MC2R | c.394A>C (p.Ile132Leu) | |
18 | g.13885126G>A | CA503248385 | MC2R | c.393C>T (p.Thr131=) | gnomAD v4 |
18 | g.13885126G>C | CA503248388 | MC2R | c.393C>G (p.Thr131=) | |
18 | g.13885126G>T | CA503248386 | MC2R | c.393C>A (p.Thr131=) | |
18 | g.13885127G>A | CA401995342 | MC2R | c.392C>T (p.Thr131Ile) | dbSNP gnomAD v4 |
18 | g.13885127G>C | CA401995344 | MC2R | c.392C>G (p.Thr131Ser) | |
18 | g.13885127G= | CA2285919434 | MC2R | c.392C= (p.Thr131=) | |
18 | g.13885127G>T | CA401995343 | MC2R | c.392C>A (p.Thr131Asn) | |
18 | g.13885128T>A | CA401995345 | MC2R | c.391A>T (p.Thr131Ser) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13885128T>C | CA401995346 | MC2R | c.391A>G (p.Thr131Ala) | |
18 | g.13885128T>G | CA401995347 | MC2R | c.391A>C (p.Thr131Pro) | |
18 | g.13885128T= | CA2285919435 | MC2R | c.391A= (p.Thr131=) | |
18 | g.13885129G>A | CA503248395 | MC2R | c.390C>T (p.Ile130=) | |
18 | g.13885129G>C | CA401995348 | MC2R | c.390C>G (p.Ile130Met) | |
18 | g.13885129G>T | CA503248397 | MC2R | c.390C>A (p.Ile130=) | |
18 | g.13885130A>C | CA401995349 | MC2R | c.389T>G (p.Ile130Ser) | |
18 | g.13885130A>G | CA401995350 | MC2R | c.389T>C (p.Ile130Thr) | |
18 | g.13885130A>T | CA401995351 | MC2R | c.389T>A (p.Ile130Asn) | |
18 | g.13885131T>A | CA401995352 | MC2R | c.388A>T (p.Ile130Phe) | |
18 | g.13885131T>C | CA401995353 | MC2R | c.388A>G (p.Ile130Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885131T>G | CA401995354 | MC2R | c.388A>C (p.Ile130Leu) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.13885131T= | CA2285919436 | MC2R | c.388A= (p.Ile130=) | |
18 | g.13885132G>A | CA503248408 | MC2R | c.387C>T (p.Tyr129=) | |
18 | g.13885132G>C | CA401995355 | MC2R | c.387C>G (p.Tyr129Ter) | |
18 | g.13885132G>T | CA401995356 | MC2R | c.387C>A (p.Tyr129Ter) | |
18 | g.13885133T>A | CA401995357 | MC2R | c.386A>T (p.Tyr129Phe) | |
18 | g.13885133T>C | CA401995359 | MC2R | c.386A>G (p.Tyr129Cys) | |
18 | g.13885133T>G | CA401995358 | MC2R | c.386A>C (p.Tyr129Ser) | |
18 | g.13885134A>C | CA401995360 | MC2R | c.385T>G (p.Tyr129Asp) | |
18 | g.13885134A>G | CA401995361 | MC2R | c.385T>C (p.Tyr129His) | |
18 | g.13885134A>T | CA401995362 | MC2R | c.385T>A (p.Tyr129Asn) | |
18 | g.13885135G>A | CA503248416 | MC2R | c.384C>T (p.Arg128=) | gnomAD v4 |
18 | g.13885135G>C | CA8902495 | MC2R | c.384C>G (p.Arg128=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885135G= | CA2285919437 | MC2R | c.384C= (p.Arg128=) | |
18 | g.13885135G>T | CA503248415 | MC2R | c.384C>A (p.Arg128=) | |
18 | g.13885136C>A | CA401995363 | MC2R | c.383G>T (p.Arg128Leu) | gnomAD v4 |
18 | g.13885136C= | CA2285919438 | MC2R | c.383G= (p.Arg128=) | |
18 | g.13885136C>G | CA401995364 | MC2R | c.383G>C (p.Arg128Pro) | |
18 | g.13885136C>T | CA8902496 | MC2R | c.383G>A (p.Arg128His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.13885137G>A | CA116120 | MC2R | c.382C>T (p.Arg128Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885137G>C | CA401995365 | MC2R | c.382C>G (p.Arg128Gly) | |
18 | g.13885137G= | CA2285919439 | MC2R | c.382C= (p.Arg128=) | |
18 | g.13885137G>T | CA401995366 | MC2R | c.382C>A (p.Arg128Ser) | |
18 | g.13885138G>A | CA503248418 | MC2R | c.381C>T (p.Asp127=) | |
18 | g.13885138G>C | CA401995367 | MC2R | c.381C>G (p.Asp127Glu) | |
18 | g.13885138G>T | CA401995368 | MC2R | c.381C>A (p.Asp127Glu) | |
18 | g.13885139T>A | CA401995371 | MC2R | c.380A>T (p.Asp127Val) | |
18 | g.13885139T>C | CA401995370 | MC2R | c.380A>G (p.Asp127Gly) | |
18 | g.13885139T>G | CA401995369 | MC2R | c.380A>C (p.Asp127Ala) | |
18 | g.13885140C>A | CA401995372 | MC2R | c.379G>T (p.Asp127Tyr) | |
18 | g.13885140C= | CA2285919440 | MC2R | c.379G= (p.Asp127=) | |
18 | g.13885140C>G | CA401995373 | MC2R | c.379G>C (p.Asp127His) | |
18 | g.13885140C>T | CA401995374 | MC2R | c.379G>A (p.Asp127Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885141C>A | CA8902497 | MC2R | c.378G>T (p.Ala126=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885141C= | CA2285919441 | MC2R | c.378G= (p.Ala126=) | |
18 | g.13885141C>G | CA503248421 | MC2R | c.378G>C (p.Ala126=) | dbSNP |
18 | g.13885141C>T | CA8902498 | MC2R | c.378G>A (p.Ala126=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.13885142G>A | CA8902499 | MC2R | c.377C>T (p.Ala126Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885142G>C | CA401995375 | MC2R | c.377C>G (p.Ala126Gly) | |
18 | g.13885142G= | CA2285919442 | MC2R | c.377C= (p.Ala126=) | |
18 | g.13885142G>T | CA401995376 | MC2R | c.377C>A (p.Ala126Glu) | dbSNP |
18 | g.13885143C>A | CA116125 | MC2R | c.376G>T (p.Ala126Ser) | ClinVar dbSNP |
18 | g.13885143C= | CA2285919443 | MC2R | c.376G= (p.Ala126=) | |
18 | g.13885143C>G | CA401995377 | MC2R | c.376G>C (p.Ala126Pro) | |
18 | g.13885143C>T | CA8902500 | MC2R | c.376G>A (p.Ala126Thr) | dbSNP ExAC gnomAD v2 |
18 | g.13885144A= | CA2285919444 | MC2R | c.375T= (p.Ala125=) | |
18 | g.13885144A>C | CA503248426 | MC2R | c.375T>G (p.Ala125=) | gnomAD v4 |
18 | g.13885144A>G | CA8902501 | MC2R | c.375T>C (p.Ala125=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885144A>T | CA503248431 | MC2R | c.375T>A (p.Ala125=) | |
18 | g.13885145G>A | CA401995380 | MC2R | c.374C>T (p.Ala125Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885145G>C | CA401995379 | MC2R | c.374C>G (p.Ala125Gly) | |
18 | g.13885145G= | CA2285919445 | MC2R | c.374C= (p.Ala125=) | |
18 | g.13885145G>T | CA401995378 | MC2R | c.374C>A (p.Ala125Asp) | |
18 | g.13885146C>A | CA401995381 | MC2R | c.373G>T (p.Ala125Ser) | |
18 | g.13885146C= | CA2285919446 | MC2R | c.373G= (p.Ala125=) | |
18 | g.13885146C>G | CA401995382 | MC2R | c.373G>C (p.Ala125Pro) | |
18 | g.13885146C>T | CA296828852 | MC2R | c.373G>A (p.Ala125Thr) | dbSNP |
18 | g.13885147A>C | CA401995383 | MC2R | c.372T>G (p.Ile124Met) | |
18 | g.13885147A>G | CA503248436 | MC2R | c.372T>C (p.Ile124=) | |
18 | g.13885147A>T | CA503248437 | MC2R | c.372T>A (p.Ile124=) | |
18 | g.13885148A>C | CA401995384 | MC2R | c.371T>G (p.Ile124Ser) | |
18 | g.13885148A>G | CA401995385 | MC2R | c.371T>C (p.Ile124Thr) | |
18 | g.13885148A>T | CA401995386 | MC2R | c.371T>A (p.Ile124Asn) | |
18 | g.13885149T>A | CA401995387 | MC2R | c.370A>T (p.Ile124Phe) c.370A>T | |
18 | g.13885149T>C | CA401995388 | MC2R | c.370A>G (p.Ile124Val) c.370A>G | |
18 | g.13885149T>G | CA401995389 | MC2R | c.370A>C (p.Ile124Leu) c.370A>C | |
18 | g.13885149_13885151delinsTCA | CA2285919447 | MC2R | c.368_370delinsTGA (p.Val123=) | |
18 | g.13885150C>A | CA503248441 | MC2R | c.369G>T (p.Val123=) | gnomAD v4 |
18 | g.13885150C>G | CA503248443 | MC2R | c.369G>C (p.Val123=) | |
18 | g.13885150C>T | CA503248440 | MC2R | c.369G>A (p.Val123=) | gnomAD v4 |
18 | g.13885152_13885153del | CA8902502 | MC2R | c.368_369del (p.Val123AspfsTer?) c.368_369del (p.Val123=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13885151A>C | CA401995390 | MC2R | c.368T>G (p.Val123Gly) | |
18 | g.13885151A>G | CA401995391 | MC2R | c.368T>C (p.Val123Ala) | gnomAD v4 |
18 | g.13885151A>T | CA401995392 | MC2R | c.368T>A (p.Val123Glu) | |
18 | g.13885152C>A | CA401995395 | MC2R | c.367G>T (p.Val123Leu) | |
18 | g.13885152C= | CA2285919448 | MC2R | c.367G= (p.Val123=) | |
18 | g.13885152C>G | CA401995393 | MC2R | c.367G>C (p.Val123Leu) | |
18 | g.13885152C>T | CA401995394 | MC2R | c.367G>A (p.Val123Met) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.13885153A>C | CA503248449 | MC2R | c.366T>G (p.Ser122=) | |
18 | g.13885153A>G | CA503248451 | MC2R | c.366T>C (p.Ser122=) | |
18 | g.13885153A>T | CA503248453 | MC2R | c.366T>A (p.Ser122=) | |
18 | g.13885154G>A | CA401995396 | MC2R | c.365C>T (p.Ser122Phe) | |
18 | g.13885154G>C | CA401995397 | MC2R | c.365C>G (p.Ser122Cys) | |
18 | g.13885154G= | CA2285919449 | MC2R | c.365C= (p.Ser122=) | |
18 | g.13885154G>T | CA401995398 | MC2R | c.365C>A (p.Ser122Tyr) | dbSNP |
18 | g.13885155A>C | CA401995399 | MC2R | c.364T>G (p.Ser122Ala) | |
18 | g.13885155A>G | CA401995400 | MC2R | c.364T>C (p.Ser122Pro) | |
18 | g.13885155A>T | CA401995401 | MC2R | c.364T>A (p.Ser122Thr) | |
18 | g.13885156C>A | CA503248457 | MC2R | c.363G>T (p.Leu121=) | |
18 | g.13885156C= | CA2285919450 | MC2R | c.363G= (p.Leu121=) | |
18 | g.13885156C>G | CA503248458 | MC2R | c.363G>C (p.Leu121=) | gnomAD v4 |
18 | g.13885156C>T | CA8902503 | MC2R | c.363G>A (p.Leu121=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885157A>C | CA401995402 | MC2R | c.362T>G (p.Leu121Arg) | gnomAD v4 |
18 | g.13885157A>G | CA401995403 | MC2R | c.362T>C (p.Leu121Pro) | |
18 | g.13885157A>T | CA401995404 | MC2R | c.362T>A (p.Leu121Gln) | |
18 | g.13885158G>A | CA503248463 | MC2R | c.361C>T (p.Leu121=) | |
18 | g.13885158G>C | CA401995405 | MC2R | c.361C>G (p.Leu121Val) | |
18 | g.13885158G>T | CA401995406 | MC2R | c.361C>A (p.Leu121Met) | |
18 | g.13885159G>A | CA503248465 | MC2R | c.360C>T (p.Ser120=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885159G>C | CA116119 | MC2R | c.360C>G (p.Ser120Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885159G= | CA2285919451 | MC2R | c.360C= (p.Ser120=) | |
18 | g.13885159G>T | CA401995407 | MC2R | c.360C>A (p.Ser120Arg) | |
18 | g.13885160C>A | CA401995408 | MC2R | c.359G>T (p.Ser120Ile) | gnomAD v4 |
18 | g.13885160C>G | CA401995409 | MC2R | c.359G>C (p.Ser120Thr) | |
18 | g.13885160C>T | CA401995410 | MC2R | c.359G>A (p.Ser120Asn) | |
18 | g.13885161T>A | CA401995411 | MC2R | c.358A>T (p.Ser120Cys) | |
18 | g.13885161T>C | CA401995412 | MC2R | c.358A>G (p.Ser120Gly) | |
18 | g.13885161T>G | CA401995413 | MC2R | c.358A>C (p.Ser120Arg) | |
18 | g.13885161_13885162delinsTG | CA2285919452 | MC2R | c.357_358delinsCA (p.Phe119=) | |
18 | g.13885162del | CA503248471 | MC2R | c.357del (p.Phe119LeufsTer5) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885162G>A | CA503248470 | MC2R | c.357C>T (p.Phe119=) | |
18 | g.13885162G>C | CA401995414 | MC2R | c.357C>G (p.Phe119Leu) | |
18 | g.13885162G>T | CA401995415 | MC2R | c.357C>A (p.Phe119Leu) | |
18 | g.13885163A>C | CA401995416 | MC2R | c.356T>G (p.Phe119Cys) | |
18 | g.13885163A>G | CA401995418 | MC2R | c.356T>C (p.Phe119Ser) | |
18 | g.13885163A>T | CA401995417 | MC2R | c.356T>A (p.Phe119Tyr) | |
18 | g.13885164A>C | CA401995419 | MC2R | c.355T>G (p.Phe119Val) | |
18 | g.13885164A>G | CA401995420 | MC2R | c.355T>C (p.Phe119Leu) | |
18 | g.13885164A>T | CA401995421 | MC2R | c.355T>A (p.Phe119Ile) | |
18 | g.13885165G>A | CA503248476 | MC2R | c.354C>T (p.Ile118=) | |
18 | g.13885165G>C | CA401995422 | MC2R | c.354C>G (p.Ile118Met) | COSMIC |
18 | g.13885165G>T | CA503248478 | MC2R | c.354C>A (p.Ile118=) | gnomAD v4 |
18 | g.13885166A>C | CA401995423 | MC2R | c.353T>G (p.Ile118Ser) | |
18 | g.13885166A>G | CA401995425 | MC2R | c.353T>C (p.Ile118Thr) | gnomAD v4 |
18 | g.13885166A>T | CA401995424 | MC2R | c.353T>A (p.Ile118Asn) | |
18 | g.13885167T>A | CA401995426 | MC2R | c.352A>T (p.Ile118Phe) | |
18 | g.13885167T>C | CA8902504 | MC2R | c.352A>G (p.Ile118Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885167T>G | CA401995427 | MC2R | c.352A>C (p.Ile118Leu) | |
18 | g.13885167T= | CA2285919453 | MC2R | c.352A= (p.Ile118=) | |
18 | g.13885168G>A | CA503248482 | MC2R | c.351C>T (p.Ser117=) | dbSNP |
18 | g.13885168G>C | CA503248484 | MC2R | c.351C>G (p.Ser117=) | |
18 | g.13885168G= | CA2285919454 | MC2R | c.351C= (p.Ser117=) | |
18 | g.13885168G>T | CA503248485 | MC2R | c.351C>A (p.Ser117=) | |
18 | g.13885169G>A | CA401995428 | MC2R | c.350C>T (p.Ser117Phe) | |
18 | g.13885169G>C | CA401995429 | MC2R | c.350C>G (p.Ser117Cys) | |
18 | g.13885169G>T | CA401995430 | MC2R | c.350C>A (p.Ser117Tyr) | |
18 | g.13885170A>C | CA401995431 | MC2R | c.349T>G (p.Ser117Ala) | |
18 | g.13885170A>G | CA401995432 | MC2R | c.349T>C (p.Ser117Pro) | ClinVar |
18 | g.13885170A>T | CA401995433 | MC2R | c.349T>A (p.Ser117Thr) | |
18 | g.13885171G>A | CA503248492 | MC2R | c.348C>T (p.Gly116=) | gnomAD v4 |
18 | g.13885171G>C | CA503248490 | MC2R | c.348C>G (p.Gly116=) | |
18 | g.13885171G>T | CA503248489 | MC2R | c.348C>A (p.Gly116=) | |
18 | g.13885172C>A | CA401995434 | MC2R | c.347G>T (p.Gly116Val) | |
18 | g.13885172C>G | CA401995435 | MC2R | c.347G>C (p.Gly116Ala) | gnomAD v4 |
18 | g.13885172C>T | CA401995436 | MC2R | c.347G>A (p.Gly116Asp) | |
18 | g.13885173C>A | CA401995437 | MC2R | c.346G>T (p.Gly116Cys) | |
18 | g.13885173C= | CA2285919455 | MC2R | c.346G= (p.Gly116=) | |
18 | g.13885173C>G | CA401995439 | MC2R | c.346G>C (p.Gly116Arg) | |
18 | g.13885173C>T | CA401995438 | MC2R | c.346G>A (p.Gly116Ser) | dbSNP |
18 | g.13885174A>C | CA503248496 | MC2R | c.345T>G (p.Leu115=) | |
18 | g.13885174A>G | CA503248497 | MC2R | c.345T>C (p.Leu115=) | |
18 | g.13885174A>T | CA503248499 | MC2R | c.345T>A (p.Leu115=) | |
18 | g.13885175A>C | CA401995440 | MC2R | c.344T>G (p.Leu115Arg) | |
18 | g.13885175A>G | CA401995442 | MC2R | c.344T>C (p.Leu115Pro) | |
18 | g.13885175A>T | CA401995441 | MC2R | c.344T>A (p.Leu115His) | gnomAD v4 |
18 | g.13885176G>A | CA401995443 | MC2R | c.343C>T (p.Leu115Phe) | |
18 | g.13885176G>C | CA401995444 | MC2R | c.343C>G (p.Leu115Val) | dbSNP |
18 | g.13885176G= | CA2285919456 | MC2R | c.343C= (p.Leu115=) | |
18 | g.13885176G>T | CA401995445 | MC2R | c.343C>A (p.Leu115Ile) | |
18 | g.13885177C>A | CA503248508 | MC2R | c.342G>T (p.Leu114=) | |
18 | g.13885177C= | CA2285919457 | MC2R | c.342G= (p.Leu114=) | |
18 | g.13885177C>G | CA503248510 | MC2R | c.342G>C (p.Leu114=) | gnomAD v4 |
18 | g.13885177C>T | CA8902505 | MC2R | c.342G>A (p.Leu114=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885178A>C | CA401995446 | MC2R | c.341T>G (p.Leu114Arg) | gnomAD v4 |
18 | g.13885178A>G | CA401995447 | MC2R | c.341T>C (p.Leu114Pro) | |
18 | g.13885178A>T | CA401995448 | MC2R | c.341T>A (p.Leu114Gln) | |
18 | g.13885178dup | CA628624551 | MC2R | c.341dup (p.Leu115AlafsTer?) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.13885179G>A | CA503248513 | MC2R | c.340C>T (p.Leu114=) | |
18 | g.13885179G>C | CA401995449 | MC2R | c.340C>G (p.Leu114Val) | |
18 | g.13885179G>T | CA401995450 | MC2R | c.340C>A (p.Leu114Met) |