UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.60371501G>A | CA8980825 | MC4R | c.849C>T (p.His283=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 18 | g.60371501G>C | CA402718945 | MC4R | c.849C>G (p.His283Gln) | |
| 18 | g.60371501G= | CA2307358984 | MC4R | c.849C= (p.His283=) | |
| 18 | g.60371501G>T | CA402718946 | MC4R | c.849C>A (p.His283Gln) | |
| 18 | g.60371502T>A | CA402718947 | MC4R | c.848A>T (p.His283Leu) | |
| 18 | g.60371502T>C | CA402718948 | MC4R | c.848A>G (p.His283Arg) | gnomAD v4 |
| 18 | g.60371502T>G | CA402718949 | MC4R | c.848A>C (p.His283Pro) | |
| 18 | g.60371503G>A | CA402718950 | MC4R | c.847C>T (p.His283Tyr) | ClinVar dbSNP gnomAD v2 |
| 18 | g.60371503G>C | CA402718951 | MC4R | c.847C>G (p.His283Asp) | |
| 18 | g.60371503G= | CA2307358985 | MC4R | c.847C= (p.His283=) | |
| 18 | g.60371503G>T | CA402718952 | MC4R | c.847C>A (p.His283Asn) | COSMIC |
| 18 | g.60371504A>C | CA504305173 | MC4R | c.846T>G (p.Ser282=) | |
| 18 | g.60371504A>G | CA504305174 | MC4R | c.846T>C (p.Ser282=) | |
| 18 | g.60371504A>T | CA504305175 | MC4R | c.846T>A (p.Ser282=) | |
| 18 | g.60371505G>A | CA402718953 | MC4R | c.845C>T (p.Ser282Phe) | |
| 18 | g.60371505G>C | CA402718955 | MC4R | c.845C>G (p.Ser282Cys) | |
| 18 | g.60371505G>T | CA402718954 | MC4R | c.845C>A (p.Ser282Tyr) | |
| 18 | g.60371506A>C | CA402718956 | MC4R | c.844T>G (p.Ser282Ala) | |
| 18 | g.60371506A>G | CA402718958 | MC4R | c.844T>C (p.Ser282Pro) | |
| 18 | g.60371506A>T | CA402718957 | MC4R | c.844T>A (p.Ser282Thr) | |
| 18 | g.60371507C>A | CA402718959 | MC4R | c.843G>T (p.Met281Ile) | |
| 18 | g.60371507C= | CA2307358986 | MC4R | c.843G= (p.Met281=) | |
| 18 | g.60371507C>G | CA402718960 | MC4R | c.843G>C (p.Met281Ile) | |
| 18 | g.60371507C>T | CA301530012 | MC4R | c.843G>A (p.Met281Ile) | dbSNP gnomAD v4 |
| 18 | g.60371508A>C | CA402718961 | MC4R | c.842T>G (p.Met281Arg) | |
| 18 | g.60371508A>G | CA402718962 | MC4R | c.842T>C (p.Met281Thr) | ClinVar |
| 18 | g.60371508A>T | CA402718963 | MC4R | c.842T>A (p.Met281Lys) | |
| 18 | g.60371509T>A | CA402718964 | MC4R | c.841A>T (p.Met281Leu) | |
| 18 | g.60371509T>C | CA402718965 | MC4R | c.841A>G (p.Met281Val) | gnomAD v4 |
| 18 | g.60371509T>G | CA402718966 | MC4R | c.841A>C (p.Met281Leu) | gnomAD v4 |
| 18 | g.60371510G>A | CA504305182 | MC4R | c.840C>T (p.Phe280=) | |
| 18 | g.60371510G>C | CA402718967 | MC4R | c.840C>G (p.Phe280Leu) | |
| 18 | g.60371510G>T | CA402718968 | MC4R | c.840C>A (p.Phe280Leu) | |
| 18 | g.60371511A>C | CA402718971 | MC4R | c.839T>G (p.Phe280Cys) | |
| 18 | g.60371511A>G | CA402718970 | MC4R | c.839T>C (p.Phe280Ser) | |
| 18 | g.60371511A>T | CA402718969 | MC4R | c.839T>A (p.Phe280Tyr) | |
| 18 | g.60371512A= | CA2307358987 | MC4R | c.838T= (p.Phe280=) | |
| 18 | g.60371512A>C | CA402718972 | MC4R | c.838T>G (p.Phe280Val) | |
| 18 | g.60371512A>G | CA8980826 | MC4R | c.838T>C (p.Phe280Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371512A>T | CA402718973 | MC4R | c.838T>A (p.Phe280Ile) | |
| 18 | g.60371513G>A | CA8980827 | MC4R | c.837C>T (p.Cys279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371513G>C | CA402718974 | MC4R | c.837C>G (p.Cys279Trp) | |
| 18 | g.60371513G= | CA2307358988 | MC4R | c.837C= (p.Cys279=) | |
| 18 | g.60371513G>T | CA402718975 | MC4R | c.837C>A (p.Cys279Ter) | gnomAD v4 |
| 18 | g.60371513_60371515delinsGCA | CA2307358989 | MC4R | c.835_837delinsTGC (p.Cys279=) | |
| 18 | g.60371514C>A | CA402718976 | MC4R | c.836G>T (p.Cys279Phe) | |
| 18 | g.60371514C= | CA2307358990 | MC4R | c.836G= (p.Cys279=) | |
| 18 | g.60371514C>G | CA402718977 | MC4R | c.836G>C (p.Cys279Ser) | |
| 18 | g.60371514C>T | CA402718978 | MC4R | c.836G>A (p.Cys279Tyr) | ClinVar dbSNP |
| 18 | g.60371520_60371521dup | CA214148 | MC4R | c.835_836dup (p.Phe280AlafsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371520_60371521del | CA630399129 | MC4R | c.835_836del (p.Cys279LeufsTer6) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371515A>C | CA402718981 | MC4R | c.835T>G (p.Cys279Gly) | |
| 18 | g.60371515A>G | CA402718980 | MC4R | c.835T>C (p.Cys279Arg) | ClinVar |
| 18 | g.60371515A>T | CA402718979 | MC4R | c.835T>A (p.Cys279Ser) | |
| 18 | g.60371516C>A | CA504305197 | MC4R | c.834G>T (p.Val278=) | |
| 18 | g.60371516C= | CA2307358991 | MC4R | c.834G= (p.Val278=) | |
| 18 | g.60371516C>G | CA504305199 | MC4R | c.834G>C (p.Val278=) | |
| 18 | g.60371516C>T | CA8980828 | MC4R | c.834G>A (p.Val278=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371517A>C | CA402718982 | MC4R | c.833T>G (p.Val278Gly) | gnomAD v4 |
| 18 | g.60371517A>G | CA402718983 | MC4R | c.833T>C (p.Val278Ala) | |
| 18 | g.60371517A>T | CA402718984 | MC4R | c.833T>A (p.Val278Glu) | |
| 18 | g.60371518C>A | CA402718985 | MC4R | c.832G>T (p.Val278Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371518C= | CA2307358992 | MC4R | c.832G= (p.Val278=) | |
| 18 | g.60371518C>G | CA402718986 | MC4R | c.832G>C (p.Val278Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371518C>T | CA402718987 | MC4R | c.832G>A (p.Val278Met) | dbSNP gnomAD v4 |
| 18 | g.60371519A= | CA2307358993 | MC4R | c.831T= (p.Cys277=) | |
| 18 | g.60371519A>C | CA402718988 | MC4R | c.831T>G (p.Cys277Trp) | |
| 18 | g.60371519A>G | CA504305205 | MC4R | c.831T>C (p.Cys277=) | COSMIC |
| 18 | g.60371519A>T | CA8980829 | MC4R | c.831T>A (p.Cys277Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371520C>A | CA402718989 | MC4R | c.830G>T (p.Cys277Phe) | |
| 18 | g.60371520C>G | CA402718990 | MC4R | c.830G>C (p.Cys277Ser) | |
| 18 | g.60371520C>T | CA402718991 | MC4R | c.830G>A (p.Cys277Tyr) | |
| 18 | g.60371520_60371522delinsCAA | CA2307358994 | MC4R | c.828_830delinsTTG (p.Tyr276=) | |
| 18 | g.60371521A>C | CA402718994 | MC4R | c.829T>G (p.Cys277Gly) | |
| 18 | g.60371521A>G | CA402718993 | MC4R | c.829T>C (p.Cys277Arg) | |
| 18 | g.60371521A>T | CA402718992 | MC4R | c.829T>A (p.Cys277Ser) | |
| 18 | g.60371521_60371522del | CA781081168 | MC4R | c.828_829del (p.Tyr276Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371522A= | CA2307358995 | MC4R | c.828T= (p.Tyr276=) | |
| 18 | g.60371522A>C | CA402718995 | MC4R | c.828T>G (p.Tyr276Ter) | |
| 18 | g.60371522A>G | CA8980830 | MC4R | c.828T>C (p.Tyr276=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371522A>T | CA402718996 | MC4R | c.828T>A (p.Tyr276Ter) | |
| 18 | g.60371523T>A | CA402718997 | MC4R | c.827A>T (p.Tyr276Phe) | |
| 18 | g.60371523T>C | CA8980831 | MC4R | c.827A>G (p.Tyr276Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371523T>G | CA402718998 | MC4R | c.827A>C (p.Tyr276Ser) | |
| 18 | g.60371523T= | CA2307358996 | MC4R | c.827A= (p.Tyr276=) | |
| 18 | g.60371524A= | CA2307358997 | MC4R | c.826T= (p.Tyr276=) | |
| 18 | g.60371524A>C | CA402718999 | MC4R | c.826T>G (p.Tyr276Asp) | |
| 18 | g.60371524A>G | CA402719000 | MC4R | c.826T>C (p.Tyr276His) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371524A>T | CA402719001 | MC4R | c.826T>A (p.Tyr276Asn) | |
| 18 | g.60371525T>A | CA504305227 | MC4R | c.825A>T (p.Pro275=) | |
| 18 | g.60371525T>C | CA504305225 | MC4R | c.825A>G (p.Pro275=) | gnomAD v4 |
| 18 | g.60371525T>G | CA504305222 | MC4R | c.825A>C (p.Pro275=) | |
| 18 | g.60371526G>A | CA402719002 | MC4R | c.824C>T (p.Pro275Leu) | |
| 18 | g.60371526G>C | CA402719003 | MC4R | c.824C>G (p.Pro275Arg) | |
| 18 | g.60371526G>T | CA402719004 | MC4R | c.824C>A (p.Pro275Gln) | |
| 18 | g.60371527G>A | CA8980832 | MC4R | c.823C>T (p.Pro275Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371527G>C | CA402719006 | MC4R | c.823C>G (p.Pro275Ala) | |
| 18 | g.60371527G= | CA2307358998 | MC4R | c.823C= (p.Pro275=) | |
| 18 | g.60371527G>T | CA402719005 | MC4R | c.823C>A (p.Pro275Thr) | |
| 18 | g.60371528A>C | CA402719007 | MC4R | c.822T>G (p.Asn274Lys) | |
| 18 | g.60371528A>G | CA504305235 | MC4R | c.822T>C (p.Asn274=) | |
| 18 | g.60371528A>T | CA402719008 | MC4R | c.822T>A (p.Asn274Lys) | |
| 18 | g.60371529T>A | CA402719009 | MC4R | c.821A>T (p.Asn274Ile) | |
| 18 | g.60371529T>C | CA210717 | MC4R | c.821A>G (p.Asn274Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371529T>G | CA402719010 | MC4R | c.821A>C (p.Asn274Thr) | |
| 18 | g.60371529T= | CA2307358999 | MC4R | c.821A= (p.Asn274=) | |
| 18 | g.60371530T>A | CA402719011 | MC4R | c.820A>T (p.Asn274Tyr) | |
| 18 | g.60371530T>C | CA402719013 | MC4R | c.820A>G (p.Asn274Asp) | |
| 18 | g.60371530T>G | CA402719012 | MC4R | c.820A>C (p.Asn274His) | |
| 18 | g.60371531C>A | CA8980833 | MC4R | c.819G>T (p.Gln273His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.60371531C= | CA2307359000 | MC4R | c.819G= (p.Gln273=) | |
| 18 | g.60371531C>G | CA402719014 | MC4R | c.819G>C (p.Gln273His) | |
| 18 | g.60371531C>T | CA504305238 | MC4R | c.819G>A (p.Gln273=) | |
| 18 | g.60371532T>A | CA402719015 | MC4R | c.818A>T (p.Gln273Leu) | |
| 18 | g.60371532T>C | CA402719016 | MC4R | c.818A>G (p.Gln273Arg) | gnomAD v4 |
| 18 | g.60371532T>G | CA402719017 | MC4R | c.818A>C (p.Gln273Pro) | |
| 18 | g.60371533G>A | CA402719018 | MC4R | c.817C>T (p.Gln273Ter) | ClinVar dbSNP gnomAD v4 |
| 18 | g.60371533G>C | CA402719019 | MC4R | c.817C>G (p.Gln273Glu) | |
| 18 | g.60371533G= | CA2307359001 | MC4R | c.817C= (p.Gln273=) | |
| 18 | g.60371533G>T | CA402719020 | MC4R | c.817C>A (p.Gln273Lys) | |
| 18 | g.60371534A>C | CA504305248 | MC4R | c.816T>G (p.Pro272=) | |
| 18 | g.60371534A>G | CA504305249 | MC4R | c.816T>C (p.Pro272=) | |
| 18 | g.60371534A>T | CA504305251 | MC4R | c.816T>A (p.Pro272=) | |
| 18 | g.60371535G>A | CA402719021 | MC4R | c.815C>T (p.Pro272Leu) | ClinVar |
| 18 | g.60371535G>C | CA402719022 | MC4R | c.815C>G (p.Pro272Arg) | ClinVar dbSNP |
| 18 | g.60371535G= | CA2307359002 | MC4R | c.815C= (p.Pro272=) | |
| 18 | g.60371535G>T | CA402719023 | MC4R | c.815C>A (p.Pro272His) | |
| 18 | g.60371536G>A | CA402719026 | MC4R | c.814C>T (p.Pro272Ser) | |
| 18 | g.60371536G>C | CA402719025 | MC4R | c.814C>G (p.Pro272Ala) | |
| 18 | g.60371536G>T | CA402719024 | MC4R | c.814C>A (p.Pro272Thr) | |
| 18 | g.60371537A>C | CA402719027 | MC4R | c.813T>G (p.Cys271Trp) | |
| 18 | g.60371537A>G | CA504305262 | MC4R | c.813T>C (p.Cys271=) | gnomAD v4 |
| 18 | g.60371537A>T | CA402719028 | MC4R | c.813T>A (p.Cys271Ter) | |
| 18 | g.60371538C>A | CA402719029 | MC4R | c.812G>T (p.Cys271Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371538C= | CA2307359003 | MC4R | c.812G= (p.Cys271=) | |
| 18 | g.60371538C>G | CA402719030 | MC4R | c.812G>C (p.Cys271Ser) | |
| 18 | g.60371538C>T | CA210718 | MC4R | c.812G>A (p.Cys271Tyr) | ClinVar dbSNP gnomAD v4 |
| 18 | g.60371539A= | CA2307359004 | MC4R | c.811T= (p.Cys271=) | |
| 18 | g.60371539A>C | CA402719031 | MC4R | c.811T>G (p.Cys271Gly) | |
| 18 | g.60371539A>G | CA16043070 | MC4R | c.811T>C (p.Cys271Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371539A>T | CA402719032 | MC4R | c.811T>A (p.Cys271Ser) | |
| 18 | g.60371540A>C | CA504305269 | MC4R | c.810T>G (p.Ser270=) | |
| 18 | g.60371540A>G | CA504305270 | MC4R | c.810T>C (p.Ser270=) | |
| 18 | g.60371540A>T | CA504305271 | MC4R | c.810T>A (p.Ser270=) | |
| 18 | g.60371541G>A | CA301530013 | MC4R | c.809C>T (p.Ser270Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371541G>C | CA402719033 | MC4R | c.809C>G (p.Ser270Cys) | |
| 18 | g.60371541G= | CA2307359005 | MC4R | c.809C= (p.Ser270=) | |
| 18 | g.60371541G>T | CA402719034 | MC4R | c.809C>A (p.Ser270Tyr) | |
| 18 | g.60371542A>C | CA402719037 | MC4R | c.808T>G (p.Ser270Ala) | |
| 18 | g.60371542A>G | CA402719036 | MC4R | c.808T>C (p.Ser270Pro) | |
| 18 | g.60371542A>T | CA402719035 | MC4R | c.808T>A (p.Ser270Thr) | |
| 18 | g.60371543G>A | CA504305135 | MC4R | c.807C>T (p.Ile269=) | |
| 18 | g.60371543G>C | CA402719038 | MC4R | c.807C>G (p.Ile269Met) | |
| 18 | g.60371543G>T | CA504305136 | MC4R | c.807C>A (p.Ile269=) | dbSNP COSMIC |
| 18 | g.60371544A= | CA2307359006 | MC4R | c.806T= (p.Ile269=) | |
| 18 | g.60371544A>C | CA402719039 | MC4R | c.806T>G (p.Ile269Ser) | |
| 18 | g.60371544A>G | CA402719040 | MC4R | c.806T>C (p.Ile269Thr) | |
| 18 | g.60371544A>T | CA214146 | MC4R | c.806T>A (p.Ile269Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371545T>A | CA402719041 | MC4R | c.805A>T (p.Ile269Phe) | |
| 18 | g.60371545T>C | CA402719042 | MC4R | c.805A>G (p.Ile269Val) | dbSNP |
| 18 | g.60371545T>G | CA402719043 | MC4R | c.805A>C (p.Ile269Leu) | |
| 18 | g.60371545T= | CA2307359007 | MC4R | c.805A= (p.Ile269=) | |
| 18 | g.60371546G>A | CA504305142 | MC4R | c.804C>T (p.Tyr268=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371546G>C | CA402719044 | MC4R | c.804C>G (p.Tyr268Ter) | |
| 18 | g.60371546G= | CA2307359008 | MC4R | c.804C= (p.Tyr268=) | |
| 18 | g.60371546G>T | CA402719045 | MC4R | c.804C>A (p.Tyr268Ter) | |
| 18 | g.60371547T>A | CA402719046 | MC4R | c.803A>T (p.Tyr268Phe) | |
| 18 | g.60371547T>C | CA402719047 | MC4R | c.803A>G (p.Tyr268Cys) | |
| 18 | g.60371547T>G | CA402719048 | MC4R | c.803A>C (p.Tyr268Ser) | |
| 18 | g.60371548del | CA2812704150 | MC4R | c.802del (p.Tyr268ThrfsTer23) | |
| 18 | g.60371548A>C | CA402719051 | MC4R | c.802T>G (p.Tyr268Asp) | COSMIC |
| 18 | g.60371548A>G | CA402719050 | MC4R | c.802T>C (p.Tyr268His) | |
| 18 | g.60371548A>T | CA402719049 | MC4R | c.802T>A (p.Tyr268Asn) | gnomAD v4 |
| 18 | g.60371549G>A | CA504305148 | MC4R | c.801C>T (p.Phe267=) | |
| 18 | g.60371549G>C | CA402719052 | MC4R | c.801C>G (p.Phe267Leu) | |
| 18 | g.60371549G>T | CA402719053 | MC4R | c.801C>A (p.Phe267Leu) | |
| 18 | g.60371550A>C | CA402719054 | MC4R | c.800T>G (p.Phe267Cys) | |
| 18 | g.60371550A>G | CA402719055 | MC4R | c.800T>C (p.Phe267Ser) | |
| 18 | g.60371550A>T | CA402719056 | MC4R | c.800T>A (p.Phe267Tyr) | |
| 18 | g.60371551A>C | CA402719057 | MC4R | c.799T>G (p.Phe267Val) | |
| 18 | g.60371551A>G | CA402719058 | MC4R | c.799T>C (p.Phe267Leu) | |
| 18 | g.60371551A>T | CA402719059 | MC4R | c.799T>A (p.Phe267Ile) | |
| 18 | g.60371552T>A | CA504305152 | MC4R | c.798A>T (p.Ile266=) | |
| 18 | g.60371552T>C | CA402719060 | MC4R | c.798A>G (p.Ile266Met) | |
| 18 | g.60371552T>G | CA504305153 | MC4R | c.798A>C (p.Ile266=) | |
| 18 | g.60371553A>C | CA402719061 | MC4R | c.797T>G (p.Ile266Arg) | |
| 18 | g.60371553A>G | CA402719062 | MC4R | c.797T>C (p.Ile266Thr) | |
| 18 | g.60371553A>T | CA402719063 | MC4R | c.797T>A (p.Ile266Lys) | gnomAD v4 |
| 18 | g.60371554T>A | CA402719065 | MC4R | c.796A>T (p.Ile266Leu) | |
| 18 | g.60371554T>C | CA402719064 | MC4R | c.796A>G (p.Ile266Val) | gnomAD v4 |
| 18 | g.60371554T>G | CA8980834 | MC4R | c.796A>C (p.Ile266Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371554T= | CA2307359009 | MC4R | c.796A= (p.Ile266=) | |
| 18 | g.60371555T>A | CA402719066 | MC4R | c.795A>T (p.Leu265Phe) | |
| 18 | g.60371555T>C | CA504305159 | MC4R | c.795A>G (p.Leu265=) | gnomAD v4 |
| 18 | g.60371555T>G | CA402719067 | MC4R | c.795A>C (p.Leu265Phe) | |
| 18 | g.60371556A>C | CA402719068 | MC4R | c.794T>G (p.Leu265Ter) | |
| 18 | g.60371556A>G | CA402719069 | MC4R | c.794T>C (p.Leu265Ser) | |
| 18 | g.60371556A>T | CA402719070 | MC4R | c.794T>A (p.Leu265Ter) | |
| 18 | g.60371557A>C | CA402719071 | MC4R | c.793T>G (p.Leu265Val) | |
| 18 | g.60371557A>G | CA504305164 | MC4R | c.793T>C (p.Leu265=) | |
| 18 | g.60371557A>T | CA402719072 | MC4R | c.793T>A (p.Leu265Ile) | |
| 18 | g.60371558G>A | CA301530014 | MC4R | c.792C>T (p.His264=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371558G>C | CA402719073 | MC4R | c.792C>G (p.His264Gln) | |
| 18 | g.60371558G= | CA2307359010 | MC4R | c.792C= (p.His264=) | |
| 18 | g.60371558G>T | CA402719074 | MC4R | c.792C>A (p.His264Gln) | |
| 18 | g.60371559T>A | CA402719075 | MC4R | c.791A>T (p.His264Leu) | |
| 18 | g.60371559T>C | CA402719076 | MC4R | c.791A>G (p.His264Arg) | dbSNP |
| 18 | g.60371559T>G | CA402719077 | MC4R | c.791A>C (p.His264Pro) | |
| 18 | g.60371559T= | CA2307359011 | MC4R | c.791A= (p.His264=) | |
| 18 | g.60371560G>A | CA402719078 | MC4R | c.790C>T (p.His264Tyr) | |
| 18 | g.60371560G>C | CA402719079 | MC4R | c.790C>G (p.His264Asp) | |
| 18 | g.60371560G>T | CA402719080 | MC4R | c.790C>A (p.His264Asn) | |
| 18 | g.60371561G>A | CA504305168 | MC4R | c.789C>T (p.Leu263=) | |
| 18 | g.60371561G>C | CA504305169 | MC4R | c.789C>G (p.Leu263=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371561G= | CA2307359012 | MC4R | c.789C= (p.Leu263=) | |
| 18 | g.60371561G>T | CA504305170 | MC4R | c.789C>A (p.Leu263=) | dbSNP |
| 18 | g.60371562A= | CA2307359013 | MC4R | c.788T= (p.Leu263=) | |
| 18 | g.60371562A>C | CA402719081 | MC4R | c.788T>G (p.Leu263Arg) | |
| 18 | g.60371562A>G | CA402719083 | MC4R | c.788T>C (p.Leu263Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371562A>T | CA402719082 | MC4R | c.788T>A (p.Leu263His) | |
| 18 | g.60371563G>A | CA402719084 | MC4R | c.787C>T (p.Leu263Phe) | |
| 18 | g.60371563G>C | CA402719085 | MC4R | c.787C>G (p.Leu263Val) | |
| 18 | g.60371563G= | CA2307359014 | MC4R | c.787C= (p.Leu263=) | |
| 18 | g.60371563G>T | CA8980835 | MC4R | c.787C>A (p.Leu263Ile) | dbSNP ExAC gnomAD v2 |
| 18 | g.60371564G>A | CA504305172 | MC4R | c.786C>T (p.Phe262=) | dbSNP |
| 18 | g.60371564G>C | CA402719086 | MC4R | c.786C>G (p.Phe262Leu) | |
| 18 | g.60371564G= | CA2307359015 | MC4R | c.786C= (p.Phe262=) | |
| 18 | g.60371564G>T | CA402719087 | MC4R | c.786C>A (p.Phe262Leu) | |
| 18 | g.60371564_60371565delinsGA | CA2307359016 | MC4R | c.785_786delinsTC (p.Phe262=) | |
| 18 | g.60371565A>C | CA402719088 | MC4R | c.785T>G (p.Phe262Cys) | |
| 18 | g.60371565A>G | CA402719089 | MC4R | c.785T>C (p.Phe262Ser) | |
| 18 | g.60371565A>T | CA402719090 | MC4R | c.785T>A (p.Phe262Tyr) | |
| 18 | g.60371566del | CA2307359017 | MC4R | c.785del (p.Phe262SerfsTer4) | dbSNP gnomAD v4 |
| 18 | g.60371566A= | CA2307359018 | MC4R | c.784T= (p.Phe262=) | |
| 18 | g.60371566A>C | CA402719091 | MC4R | c.784T>G (p.Phe262Val) | |
| 18 | g.60371566A>G | CA402719092 | MC4R | c.784T>C (p.Phe262Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371566A>T | CA402719093 | MC4R | c.784T>A (p.Phe262Ile) | |
| 18 | g.60371567G>A | CA504305177 | MC4R | c.783C>T (p.Phe261=) | |
| 18 | g.60371567G>C | CA402719095 | MC4R | c.783C>G (p.Phe261Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371567G= | CA2307359019 | MC4R | c.783C= (p.Phe261=) | |
| 18 | g.60371567G>T | CA402719094 | MC4R | c.783C>A (p.Phe261Leu) | |
| 18 | g.60371568A>C | CA402719096 | MC4R | c.782T>G (p.Phe261Cys) | |
| 18 | g.60371568A>G | CA402719097 | MC4R | c.782T>C (p.Phe261Ser) | |
| 18 | g.60371568A>T | CA402719098 | MC4R | c.782T>A (p.Phe261Tyr) | |
| 18 | g.60371569A= | CA2307359020 | MC4R | c.781T= (p.Phe261=) | |
| 18 | g.60371569A>C | CA402719099 | MC4R | c.781T>G (p.Phe261Val) | |
| 18 | g.60371569A>G | CA8980836 | MC4R | c.781T>C (p.Phe261Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371569A>T | CA402719100 | MC4R | c.781T>A (p.Phe261Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371570T>A | CA301530015 | MC4R | c.780A>T (p.Pro260=) | dbSNP |
| 18 | g.60371570T>C | CA504305179 | MC4R | c.780A>G (p.Pro260=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371570T>G | CA504305180 | MC4R | c.780A>C (p.Pro260=) | |
| 18 | g.60371570T= | CA2307359021 | MC4R | c.780A= (p.Pro260=) | |
| 18 | g.60371571G>A | CA402719101 | MC4R | c.779C>T (p.Pro260Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371571G>C | CA402719102 | MC4R | c.779C>G (p.Pro260Arg) | |
| 18 | g.60371571G= | CA2307359022 | MC4R | c.779C= (p.Pro260=) | |
| 18 | g.60371571G>T | CA402719103 | MC4R | c.779C>A (p.Pro260Gln) | ClinVar dbSNP gnomAD v4 |
| 18 | g.60371572G>A | CA402719104 | MC4R | c.778C>T (p.Pro260Ser) | |
| 18 | g.60371572G>C | CA8980837 | MC4R | c.778C>G (p.Pro260Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371572G= | CA2307359023 | MC4R | c.778C= (p.Pro260=) | |
| 18 | g.60371572G>T | CA402719105 | MC4R | c.778C>A (p.Pro260Thr) | |
| 18 | g.60371573G>A | CA504305186 | MC4R | c.777C>T (p.Ala259=) | gnomAD v4 |
| 18 | g.60371573G>C | CA504305190 | MC4R | c.777C>G (p.Ala259=) | |
| 18 | g.60371573G>T | CA504305188 | MC4R | c.777C>A (p.Ala259=) | |
| 18 | g.60371574G>A | CA8980838 | MC4R | c.776C>T (p.Ala259Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371574G>C | CA402719106 | MC4R | c.776C>G (p.Ala259Gly) | |
| 18 | g.60371574G= | CA2307359024 | MC4R | c.776C= (p.Ala259=) | |
| 18 | g.60371574G>T | CA402719107 | MC4R | c.776C>A (p.Ala259Asp) | COSMIC |
| 18 | g.60371575C>A | CA402719108 | MC4R | c.775G>T (p.Ala259Ser) | gnomAD v4 |
| 18 | g.60371575C= | CA2307359025 | MC4R | c.775G= (p.Ala259=) | |
| 18 | g.60371575C>G | CA402719109 | MC4R | c.775G>C (p.Ala259Pro) | |
| 18 | g.60371575C>T | CA301530016 | MC4R | c.775G>A (p.Ala259Thr) | dbSNP |
| 18 | g.60371576C>A | CA402719110 | MC4R | c.774G>T (p.Trp258Cys) | |
| 18 | g.60371576C>G | CA402719111 | MC4R | c.774G>C (p.Trp258Cys) | |
| 18 | g.60371576C>T | CA402719112 | MC4R | c.774G>A (p.Trp258Ter) | |
| 18 | g.60371576_60371577insAA | CA2642029297 | MC4R | c.773_774insTT (p.Trp258CysfsTer9) | gnomAD v4 |
| 18 | g.60371577C>A | CA402719113 | MC4R | c.773G>T (p.Trp258Leu) | |
| 18 | g.60371577C>G | CA402719114 | MC4R | c.773G>C (p.Trp258Ser) | gnomAD v4 |
| 18 | g.60371577C>T | CA402719115 | MC4R | c.773G>A (p.Trp258Ter) | gnomAD v4 |
| 18 | g.60371578A>C | CA402719116 | MC4R | c.772T>G (p.Trp258Gly) | |
| 18 | g.60371578A>G | CA402719117 | MC4R | c.772T>C (p.Trp258Arg) | |
| 18 | g.60371578A>T | CA402719118 | MC4R | c.772T>A (p.Trp258Arg) | |
| 18 | g.60371579G>A | CA8980839 | MC4R | c.771C>T (p.Cys257=) | dbSNP ExAC |
| 18 | g.60371579G>C | CA402719120 | MC4R | c.771C>G (p.Cys257Trp) | |
| 18 | g.60371579G= | CA2307359026 | MC4R | c.771C= (p.Cys257=) | |
| 18 | g.60371579G>T | CA402719119 | MC4R | c.771C>A (p.Cys257Ter) | COSMIC |
| 18 | g.60371580C>A | CA402719121 | MC4R | c.770G>T (p.Cys257Phe) | |
| 18 | g.60371580C= | CA2307359027 | MC4R | c.770G= (p.Cys257=) | |
| 18 | g.60371580C>G | CA8980840 | MC4R | c.770G>C (p.Cys257Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371580C>T | CA402719122 | MC4R | c.770G>A (p.Cys257Tyr) | |
| 18 | g.60371581A>C | CA402719123 | MC4R | c.769T>G (p.Cys257Gly) | |
| 18 | g.60371581A>G | CA402719125 | MC4R | c.769T>C (p.Cys257Arg) | |
| 18 | g.60371581A>T | CA402719124 | MC4R | c.769T>A (p.Cys257Ser) | |
| 18 | g.60371582G>A | CA504305209 | MC4R | c.768C>T (p.Val256=) | |
| 18 | g.60371582G>C | CA504305210 | MC4R | c.768C>G (p.Val256=) | |
| 18 | g.60371582G>T | CA504305211 | MC4R | c.768C>A (p.Val256=) | |
| 18 | g.60371583A>C | CA402719126 | MC4R | c.767T>G (p.Val256Gly) | |
| 18 | g.60371583A>G | CA402719127 | MC4R | c.767T>C (p.Val256Ala) | |
| 18 | g.60371583A>T | CA402719128 | MC4R | c.767T>A (p.Val256Asp) | gnomAD v4 |
| 18 | g.60371584C>A | CA402719129 | MC4R | c.766G>T (p.Val256Phe) | dbSNP |
| 18 | g.60371584C= | CA2307359028 | MC4R | c.766G= (p.Val256=) | |
| 18 | g.60371584C>G | CA402719130 | MC4R | c.766G>C (p.Val256Leu) | |
| 18 | g.60371584C>T | CA402719131 | MC4R | c.766G>A (p.Val256Ile) | gnomAD v4 |
| 18 | g.60371585A>C | CA504305215 | MC4R | c.765T>G (p.Val255=) | |
| 18 | g.60371585A>G | CA504305212 | MC4R | c.765T>C (p.Val255=) | |
| 18 | g.60371585A>T | CA504305213 | MC4R | c.765T>A (p.Val255=) | |
| 18 | g.60371586A= | CA2307359029 | MC4R | c.764T= (p.Val255=) | |
| 18 | g.60371586A>C | CA402719132 | MC4R | c.764T>G (p.Val255Gly) | |
| 18 | g.60371586A>G | CA402719133 | MC4R | c.764T>C (p.Val255Ala) | dbSNP gnomAD v4 |
| 18 | g.60371586A>T | CA402719134 | MC4R | c.764T>A (p.Val255Asp) | |
| 18 | g.60371587C>A | CA402719135 | MC4R | c.763G>T (p.Val255Phe) | dbSNP gnomAD v2 |
| 18 | g.60371587C= | CA2307359030 | MC4R | c.763G= (p.Val255=) | |
| 18 | g.60371587C>G | CA402719136 | MC4R | c.763G>C (p.Val255Leu) | |
| 18 | g.60371587C>T | CA8980841 | MC4R | c.763G>A (p.Val255Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371588A>C | CA402719138 | MC4R | c.762T>G (p.Phe254Leu) | |
| 18 | g.60371588A>G | CA504305221 | MC4R | c.762T>C (p.Phe254=) | gnomAD v4 |
| 18 | g.60371588A>T | CA402719137 | MC4R | c.762T>A (p.Phe254Leu) | |
| 18 | g.60371589A>C | CA402719139 | MC4R | c.761T>G (p.Phe254Cys) | |
| 18 | g.60371589A>G | CA402719140 | MC4R | c.761T>C (p.Phe254Ser) | |
| 18 | g.60371589A>T | CA402719141 | MC4R | c.761T>A (p.Phe254Tyr) | |
| 18 | g.60371590A>C | CA402719142 | MC4R | c.760T>G (p.Phe254Val) | |
| 18 | g.60371590A>G | CA402719143 | MC4R | c.760T>C (p.Phe254Leu) | |
| 18 | g.60371590A>T | CA402719144 | MC4R | c.760T>A (p.Phe254Ile) | |
| 18 | g.60371591G>A | CA504305232 | MC4R | c.759C>T (p.Val253=) | |
| 18 | g.60371591G>C | CA504305233 | MC4R | c.759C>G (p.Val253=) | |
| 18 | g.60371591G>T | CA504305234 | MC4R | c.759C>A (p.Val253=) | dbSNP |
| 18 | g.60371592A>C | CA402719145 | MC4R | c.758T>G (p.Val253Gly) | |
| 18 | g.60371592A>G | CA402719146 | MC4R | c.758T>C (p.Val253Ala) | |
| 18 | g.60371592A>T | CA402719147 | MC4R | c.758T>A (p.Val253Asp) | |
| 18 | g.60371593C>A | CA402719148 | MC4R | c.757G>T (p.Val253Phe) | |
| 18 | g.60371593C= | CA2307359031 | MC4R | c.757G= (p.Val253=) | |
| 18 | g.60371593C>G | CA402719149 | MC4R | c.757G>C (p.Val253Leu) | |
| 18 | g.60371593C>T | CA8980842 | MC4R | c.757G>A (p.Val253Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371594G>A | CA8980843 | MC4R | c.756C>T (p.Gly252=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371594G>C | CA504305239 | MC4R | c.756C>G (p.Gly252=) | |
| 18 | g.60371594G= | CA2307359032 | MC4R | c.756C= (p.Gly252=) | |
| 18 | g.60371594G>T | CA504305240 | MC4R | c.756C>A (p.Gly252=) | |
| 18 | g.60371595C>A | CA402719151 | MC4R | c.755G>T (p.Gly252Val) | |
| 18 | g.60371595C= | CA2307359033 | MC4R | c.755G= (p.Gly252=) | |
| 18 | g.60371595C>G | CA402719150 | MC4R | c.755G>C (p.Gly252Ala) | |
| 18 | g.60371595C>T | CA8980844 | MC4R | c.755G>A (p.Gly252Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371596C>A | CA402719152 | MC4R | c.754G>T (p.Gly252Cys) | |
| 18 | g.60371596C= | CA2307359034 | MC4R | c.754G= (p.Gly252=) | |
| 18 | g.60371596C>G | CA402719153 | MC4R | c.754G>C (p.Gly252Arg) | |
| 18 | g.60371596C>T | CA8980845 | MC4R | c.754G>A (p.Gly252Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371597A>C | CA402719154 | MC4R | c.753T>G (p.Ile251Met) | |
| 18 | g.60371597A>G | CA504305245 | MC4R | c.753T>C (p.Ile251=) | |
| 18 | g.60371597A>T | CA504305246 | MC4R | c.753T>A (p.Ile251=) | |
| 18 | g.60371598A= | CA2307359036 | MC4R | c.752T= (p.Ile251=) | |
| 18 | g.60371598A>C | CA402719155 | MC4R | c.752T>G (p.Ile251Ser) | |
| 18 | g.60371598A>G | CA301530017 | MC4R | c.752T>C (p.Ile251Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371598A>T | CA402719156 | MC4R | c.752T>A (p.Ile251Asn) | |
| 18 | g.60371598_60371600delinsATC | CA2307359035 | MC4R | c.750_752delinsGAT (p.Leu250=) | |
| 18 | g.60371599T>A | CA402719157 | MC4R | c.751A>T (p.Ile251Phe) | |
| 18 | g.60371599T>C | CA402719158 | MC4R | c.751A>G (p.Ile251Val) | |
| 18 | g.60371599T>G | CA214823 | MC4R | c.751A>C (p.Ile251Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371599T= | CA2307359037 | MC4R | c.751A= (p.Ile251=) | |
| 18 | g.60371599_60371600del | CA8980846 | MC4R | c.750_751del (p.Ile251TrpfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371600C>A | CA504305255 | MC4R | c.750G>T (p.Leu250=) | COSMIC |
| 18 | g.60371600C>G | CA504305256 | MC4R | c.750G>C (p.Leu250=) | |
| 18 | g.60371600C>T | CA504305257 | MC4R | c.750G>A (p.Leu250=) | COSMIC |
| 18 | g.60371601A= | CA2307359038 | MC4R | c.749T= (p.Leu250=) | |
| 18 | g.60371601A>C | CA402719160 | MC4R | c.749T>G (p.Leu250Arg) | |
| 18 | g.60371601A>G | CA402719159 | MC4R | c.749T>C (p.Leu250Pro) | |
| 18 | g.60371601A>T | CA8980847 | MC4R | c.749T>A (p.Leu250Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |