Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.13884688_13884692delinsGGCAT | CA2285919218 | MC2R | c.827_831delinsATGCC (p.Tyr276=) | |
18 | g.13884689_13884692del | CA776350804 | MC2R | c.827_830del (p.Tyr276SerfsTer14) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884691A= | CA2285919220 | MC2R | c.828T= (p.Tyr276=) | |
18 | g.13884691A>C | CA401993751 | MC2R | c.828T>G (p.Tyr276Ter) | |
18 | g.13884691A>G | CA8902394 | MC2R | c.828T>C (p.Tyr276=) | dbSNP ExAC gnomAD v2 |
18 | g.13884691A>T | CA401993752 | MC2R | c.828T>A (p.Tyr276Ter) | dbSNP |
18 | g.13884692T>A | CA401993755 | MC2R | c.827A>T (p.Tyr276Phe) | |
18 | g.13884692T>C | CA296828548 | MC2R | c.827A>G (p.Tyr276Cys) | dbSNP |
18 | g.13884692T>G | CA401993757 | MC2R | c.827A>C (p.Tyr276Ser) | |
18 | g.13884692T= | CA2285919221 | MC2R | c.827A= (p.Tyr276=) | |
18 | g.13884693A= | CA2285919222 | MC2R | c.826T= (p.Tyr276=) | |
18 | g.13884693A>C | CA8902395 | MC2R | c.826T>G (p.Tyr276Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884693A>G | CA401993761 | MC2R | c.826T>C (p.Tyr276His) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884693A>T | CA401993762 | MC2R | c.826T>A (p.Tyr276Asn) | |
18 | g.13884694T>A | CA503010678 | MC2R | c.825A>T (p.Ile275=) | |
18 | g.13884694T>C | CA401993764 | MC2R | c.825A>G (p.Ile275Met) | |
18 | g.13884694T>G | CA503010679 | MC2R | c.825A>C (p.Ile275=) | |
18 | g.13884695A= | CA2285919223 | MC2R | c.824T= (p.Ile275=) | |
18 | g.13884695A>C | CA401993766 | MC2R | c.824T>G (p.Ile275Arg) | |
18 | g.13884695A>G | CA401993768 | MC2R | c.824T>C (p.Ile275Thr) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884695A>T | CA401993770 | MC2R | c.824T>A (p.Ile275Lys) | |
18 | g.13884696T>A | CA401993775 | MC2R | c.823A>T (p.Ile275Leu) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884696T>C | CA8902396 | MC2R | c.823A>G (p.Ile275Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884696T>G | CA401993772 | MC2R | c.823A>C (p.Ile275Leu) | |
18 | g.13884696T= | CA2285919224 | MC2R | c.823A= (p.Ile275=) | |
18 | g.13884697G>A | CA296828555 | MC2R | c.822C>T (p.Phe274=) | dbSNP gnomAD v4 |
18 | g.13884697G>C | CA401993777 | MC2R | c.822C>G (p.Phe274Leu) | |
18 | g.13884697G= | CA2285919225 | MC2R | c.822C= (p.Phe274=) | |
18 | g.13884697G>T | CA401993779 | MC2R | c.822C>A (p.Phe274Leu) | |
18 | g.13884698A>C | CA401993781 | MC2R | c.821T>G (p.Phe274Cys) | |
18 | g.13884698A>G | CA401993782 | MC2R | c.821T>C (p.Phe274Ser) | |
18 | g.13884698A>T | CA401993783 | MC2R | c.821T>A (p.Phe274Tyr) | |
18 | g.13884699A= | CA2285919226 | MC2R | c.820T= (p.Phe274=) | |
18 | g.13884699A>C | CA401993784 | MC2R | c.820T>G (p.Phe274Val) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884699A>G | CA401993785 | MC2R | c.820T>C (p.Phe274Leu) | |
18 | g.13884699A>T | CA401993787 | MC2R | c.820T>A (p.Phe274Ile) | gnomAD v4 |
18 | g.13884700G>A | CA503010680 | MC2R | c.819C>T (p.Pro273=) | |
18 | g.13884700G>C | CA503010681 | MC2R | c.819C>G (p.Pro273=) | |
18 | g.13884700G>T | CA503010682 | MC2R | c.819C>A (p.Pro273=) | |
18 | g.13884703del | CA2641150771 | MC2R | c.819del (p.Phe274SerfsTer17) | gnomAD v4 |
18 | g.13884701G>A | CA401993788 | MC2R | c.818C>T (p.Pro273Leu) | dbSNP COSMIC |
18 | g.13884701G>C | CA401993790 | MC2R | c.818C>G (p.Pro273Arg) | |
18 | g.13884701G= | CA2285919227 | MC2R | c.818C= (p.Pro273=) | |
18 | g.13884701G>T | CA296828558 | MC2R | c.818C>A (p.Pro273His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884702G>A | CA401993794 | MC2R | c.817C>T (p.Pro273Ser) | ClinVar |
18 | g.13884702G>C | CA401993796 | MC2R | c.817C>G (p.Pro273Ala) | |
18 | g.13884702G= | CA2285919228 | MC2R | c.817C= (p.Pro273=) | |
18 | g.13884702G>T | CA401993793 | MC2R | c.817C>A (p.Pro273Thr) | dbSNP COSMIC |
18 | g.13884703G>A | CA503010683 | MC2R | c.816C>T (p.Asp272=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884703G>C | CA401993798 | MC2R | c.816C>G (p.Asp272Glu) |