Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.78617041G>A | CA7684529 | CHRNA3 | c.360C>T (p.Asp120=) n.861C>T c.159C>T (p.Asp53=) c.279C>T (p.Asp93=) n.562C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.78617041G>C | CA393588915 | CHRNA3 | c.360C>G (p.Asp120Glu) n.861C>G c.159C>G (p.Asp53Glu) c.279C>G (p.Asp93Glu) n.562C>G | |
15 | g.78617041G= | CA2189602572 | CHRNA3 | c.360C= (p.Asp120=) n.861C= c.159C= (p.Asp53=) c.279C= (p.Asp93=) n.562C= | |
15 | g.78617041G>T | CA393588918 | CHRNA3 | c.360C>A (p.Asp120Glu) n.861C>A c.159C>A (p.Asp53Glu) c.279C>A (p.Asp93Glu) n.562C>A | |
15 | g.78617042T>A | CA393588927 | CHRNA3 | c.359A>T (p.Asp120Val) n.860A>T c.158A>T (p.Asp53Val) c.278A>T (p.Asp93Val) n.561A>T | |
15 | g.78617042T>C | CA393588929 | CHRNA3 | c.359A>G (p.Asp120Gly) n.860A>G c.158A>G (p.Asp53Gly) c.278A>G (p.Asp93Gly) n.561A>G | |
15 | g.78617042T>G | CA393588931 | CHRNA3 | c.359A>C (p.Asp120Ala) n.860A>C c.158A>C (p.Asp53Ala) c.278A>C (p.Asp93Ala) n.561A>C | |
15 | g.78617043C>A | CA393588933 | CHRNA3 | c.358G>T (p.Asp120Tyr) n.859G>T c.157G>T (p.Asp53Tyr) c.277G>T (p.Asp93Tyr) n.560G>T | |
15 | g.78617043C>G | CA393588937 | CHRNA3 | c.358G>C (p.Asp120His) n.859G>C c.157G>C (p.Asp53His) c.277G>C (p.Asp93His) n.560G>C | |
15 | g.78617043C>T | CA393588935 | CHRNA3 | c.358G>A (p.Asp120Asn) n.859G>A c.157G>A (p.Asp53Asn) c.277G>A (p.Asp93Asn) n.560G>A | |
15 | g.78617044T>A | CA491626218 | CHRNA3 | c.357A>T (p.Pro119=) n.858A>T c.156A>T (p.Pro52=) c.276A>T (p.Pro92=) n.559A>T | |
15 | g.78617044T>C | CA491626220 | CHRNA3 | c.357A>G (p.Pro119=) n.858A>G c.156A>G (p.Pro52=) c.276A>G (p.Pro92=) n.559A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.78617044T>G | CA491626221 | CHRNA3 | c.357A>C (p.Pro119=) n.858A>C c.156A>C (p.Pro52=) c.276A>C (p.Pro92=) n.559A>C | |
15 | g.78617044T= | CA2189602573 | CHRNA3 | c.357A= (p.Pro119=) n.858A= c.156A= (p.Pro52=) c.276A= (p.Pro92=) n.559A= | |
15 | g.78617045G>A | CA393588940 | CHRNA3 | c.356C>T (p.Pro119Leu) n.857C>T c.155C>T (p.Pro52Leu) c.275C>T (p.Pro92Leu) n.558C>T | |
15 | g.78617045G>C | CA393588943 | CHRNA3 | c.356C>G (p.Pro119Arg) n.857C>G c.155C>G (p.Pro52Arg) c.275C>G (p.Pro92Arg) n.558C>G | |
15 | g.78617045G>T | CA393588944 | CHRNA3 | c.356C>A (p.Pro119Gln) n.857C>A c.155C>A (p.Pro52Gln) c.275C>A (p.Pro92Gln) n.558C>A | |
15 | g.78617046G>A | CA393588946 | CHRNA3 | c.355C>T (p.Pro119Ser) n.856C>T c.154C>T (p.Pro52Ser) c.274C>T (p.Pro92Ser) n.557C>T | |
15 | g.78617046G>C | CA393588948 | CHRNA3 | c.355C>G (p.Pro119Ala) n.856C>G c.154C>G (p.Pro52Ala) c.274C>G (p.Pro92Ala) n.557C>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.78617046G= | CA2189602574 | CHRNA3 | c.355C= (p.Pro119=) n.856C= c.154C= (p.Pro52=) c.274C= (p.Pro92=) n.557C= | |
15 | g.78617046G>T | CA393588950 | CHRNA3 | c.355C>A (p.Pro119Thr) n.856C>A c.154C>A (p.Pro52Thr) c.274C>A (p.Pro92Thr) n.557C>A | |
15 | g.78617047C>A | CA393588953 | CHRNA3 | c.354G>T (p.Lys118Asn) n.855G>T c.153G>T (p.Lys51Asn) c.273G>T (p.Lys91Asn) n.556G>T | |
15 | g.78617047C>G | CA393588956 | CHRNA3 | c.354G>C (p.Lys118Asn) n.855G>C c.153G>C (p.Lys51Asn) c.273G>C (p.Lys91Asn) n.556G>C | |
15 | g.78617047C>T | CA491626235 | CHRNA3 | c.354G>A (p.Lys118=) n.855G>A c.153G>A (p.Lys51=) c.273G>A (p.Lys91=) n.556G>A | |
15 | g.78617048T>A | CA393588959 | CHRNA3 | c.353A>T (p.Lys118Met) n.854A>T c.152A>T (p.Lys51Met) c.272A>T (p.Lys91Met) n.555A>T | |
15 | g.78617048T>C | CA393588960 | CHRNA3 | c.353A>G (p.Lys118Arg) n.854A>G c.152A>G (p.Lys51Arg) c.272A>G (p.Lys91Arg) n.555A>G | dbSNP gnomAD v2 gnomAD v4 |
15 | g.78617048T>G | CA393588963 | CHRNA3 | c.353A>C (p.Lys118Thr) n.854A>C c.152A>C (p.Lys51Thr) c.272A>C (p.Lys91Thr) n.555A>C | |
15 | g.78617048T= | CA2189602575 | CHRNA3 | c.353A= (p.Lys118=) n.854A= c.152A= (p.Lys51=) c.272A= (p.Lys91=) n.555A= | |
15 | g.78617049T>A | CA393588965 | CHRNA3 | c.352A>T (p.Lys118Ter) n.853A>T c.151A>T (p.Lys51Ter) c.271A>T (p.Lys91Ter) n.554A>T | |
15 | g.78617049T>C | CA393588970 | CHRNA3 | c.352A>G (p.Lys118Glu) n.853A>G c.151A>G (p.Lys51Glu) c.271A>G (p.Lys91Glu) n.554A>G | |
15 | g.78617049T>G | CA393588967 | CHRNA3 | c.352A>C (p.Lys118Gln) n.853A>C c.151A>C (p.Lys51Gln) c.271A>C (p.Lys91Gln) n.554A>C | |
15 | g.78617050C>A | CA393588973 | CHRNA3 | c.351G>T (p.Trp117Cys) n.852G>T c.150G>T (p.Trp50Cys) c.270G>T (p.Trp90Cys) n.553G>T | |
15 | g.78617050C>G | CA393588978 | CHRNA3 | c.351G>C (p.Trp117Cys) n.852G>C c.150G>C (p.Trp50Cys) c.270G>C (p.Trp90Cys) n.553G>C | |
15 | g.78617050C>T | CA393588975 | CHRNA3 | c.351G>A (p.Trp117Ter) n.852G>A c.150G>A (p.Trp50Ter) c.270G>A (p.Trp90Ter) n.553G>A | |
15 | g.78617051C>A | CA393588980 | CHRNA3 | c.350G>T (p.Trp117Leu) n.851G>T c.149G>T (p.Trp50Leu) c.269G>T (p.Trp90Leu) n.552G>T | |
15 | g.78617051C= | CA2189602576 | CHRNA3 | c.350G= (p.Trp117=) n.851G= c.149G= (p.Trp50=) c.269G= (p.Trp90=) n.552G= | |
15 | g.78617051C>G | CA393588982 | CHRNA3 | c.350G>C (p.Trp117Ser) n.851G>C c.149G>C (p.Trp50Ser) c.269G>C (p.Trp90Ser) n.552G>C | |
15 | g.78617051C>T | CA393588984 | CHRNA3 | c.350G>A (p.Trp117Ter) n.851G>A c.149G>A (p.Trp50Ter) c.269G>A (p.Trp90Ter) n.552G>A | gnomAD v4 |
15 | g.78617052A= | CA2189602577 | CHRNA3 | c.349T= (p.Trp117=) n.850T= c.148T= (p.Trp50=) c.268T= (p.Trp90=) n.551T= | |
15 | g.78617052A>C | CA393588990 | CHRNA3 | c.349T>G (p.Trp117Gly) n.850T>G c.148T>G (p.Trp50Gly) c.268T>G (p.Trp90Gly) n.551T>G | |
15 | g.78617052A>G | CA393588991 | CHRNA3 | c.349T>C (p.Trp117Arg) n.850T>C c.148T>C (p.Trp50Arg) c.268T>C (p.Trp90Arg) n.551T>C | |
15 | g.78617052A>T | CA393588993 | CHRNA3 | c.349T>A (p.Trp117Arg) n.850T>A c.148T>A (p.Trp50Arg) c.268T>A (p.Trp90Arg) n.551T>A | dbSNP |
15 | g.78617052dup | CA7684530 | CHRNA3 | c.349dup (p.Trp117LeufsTer9) n.850dup c.148dup (p.Trp50LeufsTer9) c.268dup (p.Trp90LeufsTer9) n.551dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.78617053G>A | CA491626261 | CHRNA3 | c.348C>T (p.Ile116=) n.849C>T c.147C>T (p.Ile49=) c.267C>T (p.Ile89=) n.550C>T | |
15 | g.78617053G>C | CA393588995 | CHRNA3 | c.348C>G (p.Ile116Met) n.849C>G c.147C>G (p.Ile49Met) c.267C>G (p.Ile89Met) n.550C>G | |
15 | g.78617053G>T | CA491626265 | CHRNA3 | c.348C>A (p.Ile116=) n.849C>A c.147C>A (p.Ile49=) c.267C>A (p.Ile89=) n.550C>A | |
15 | g.78617054A= | CA2189602578 | CHRNA3 | c.347T= (p.Ile116=) n.848T= c.146T= (p.Ile49=) c.266T= (p.Ile89=) n.549T= | |
15 | g.78617054A>C | CA393588997 | CHRNA3 | c.347T>G (p.Ile116Ser) n.848T>G c.146T>G (p.Ile49Ser) c.266T>G (p.Ile89Ser) n.549T>G | gnomAD v4 |
15 | g.78617054A>G | CA393588999 | CHRNA3 | c.347T>C (p.Ile116Thr) n.848T>C c.146T>C (p.Ile49Thr) c.266T>C (p.Ile89Thr) n.549T>C | |
15 | g.78617054A>T | CA393589001 | CHRNA3 | c.347T>A (p.Ile116Asn) n.848T>A c.146T>A (p.Ile49Asn) c.266T>A (p.Ile89Asn) n.549T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |