Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44006592A= | CA2261182206 | NAGS,PYY | c.979A= (p.Thr327=) c.886A= (p.Thr296=) n.254A= c.481A= (p.Thr161=) c.-463+16980T= (n.-463+16980T=) | |
17 | g.44006592A>C | CA399726203 | NAGS,PYY | c.979A>C (p.Thr327Pro) c.886A>C (p.Thr296Pro) n.254A>C c.481A>C (p.Thr161Pro) c.-463+16980T>G (n.-463+16980T>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44006592A>G | CA399726202 | NAGS,PYY | c.979A>G (p.Thr327Ala) c.886A>G (p.Thr296Ala) n.254A>G c.481A>G (p.Thr161Ala) c.-463+16980T>C (n.-463+16980T>C) | |
17 | g.44006592A>T | CA399726200 | NAGS,PYY | c.979A>T (p.Thr327Ser) c.886A>T (p.Thr296Ser) n.254A>T c.481A>T (p.Thr161Ser) c.-463+16980T>A (n.-463+16980T>A) | |
17 | g.44006593C>A | CA399726205 | NAGS,PYY | c.980C>A (p.Thr327Lys) c.887C>A (p.Thr296Lys) n.255C>A c.482C>A (p.Thr161Lys) c.-463+16979G>T (n.-463+16979G>T) | |
17 | g.44006593C>G | CA399726207 | NAGS,PYY | c.980C>G (p.Thr327Arg) c.887C>G (p.Thr296Arg) n.255C>G c.482C>G (p.Thr161Arg) c.-463+16979G>C (n.-463+16979G>C) | |
17 | g.44006593C>T | CA399726208 | NAGS,PYY | c.980C>T (p.Thr327Ile) c.887C>T (p.Thr296Ile) n.255C>T c.482C>T (p.Thr161Ile) c.-463+16979G>A (n.-463+16979G>A) | gnomAD v4 |
17 | g.44006594A= | CA2261182207 | NAGS,PYY | c.981A= (p.Thr327=) c.888A= (p.Thr296=) n.256A= c.483A= (p.Thr161=) c.-463+16978T= (n.-463+16978T=) | |
17 | g.44006594A>C | CA500241096 | NAGS,PYY | c.981A>C (p.Thr327=) c.888A>C (p.Thr296=) n.256A>C c.483A>C (p.Thr161=) c.-463+16978T>G (n.-463+16978T>G) | |
17 | g.44006594A>G | CA500241097 | NAGS,PYY | c.981A>G (p.Thr327=) c.888A>G (p.Thr296=) n.256A>G c.483A>G (p.Thr161=) c.-463+16978T>C (n.-463+16978T>C) | |
17 | g.44006594A>T | CA500241098 | NAGS,PYY | c.981A>T (p.Thr327=) c.888A>T (p.Thr296=) n.256A>T c.483A>T (p.Thr161=) c.-463+16978T>A (n.-463+16978T>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44006595A= | CA2261182208 | NAGS,PYY | c.982A= (p.Lys328=) c.889A= (p.Lys297=) n.257A= c.484A= (p.Lys162=) c.-463+16977T= (n.-463+16977T=) | |
17 | g.44006595A>C | CA399726210 | NAGS,PYY | c.982A>C (p.Lys328Gln) c.889A>C (p.Lys297Gln) n.257A>C c.484A>C (p.Lys162Gln) c.-463+16977T>G (n.-463+16977T>G) | |
17 | g.44006595A>G | CA399726211 | NAGS,PYY | c.982A>G (p.Lys328Glu) c.889A>G (p.Lys297Glu) n.257A>G c.484A>G (p.Lys162Glu) c.-463+16977T>C (n.-463+16977T>C) | dbSNP gnomAD v4 |
17 | g.44006595A>T | CA399726212 | NAGS,PYY | c.982A>T (p.Lys328Ter) c.889A>T (p.Lys297Ter) n.257A>T c.484A>T (p.Lys162Ter) c.-463+16977T>A (n.-463+16977T>A) | |
17 | g.44006596A>C | CA399726215 | NAGS,PYY | c.983A>C (p.Lys328Thr) c.890A>C (p.Lys297Thr) n.258A>C c.485A>C (p.Lys162Thr) c.-463+16976T>G (n.-463+16976T>G) | |
17 | g.44006596A>G | CA399726216 | NAGS,PYY | c.983A>G (p.Lys328Arg) c.890A>G (p.Lys297Arg) n.258A>G c.485A>G (p.Lys162Arg) c.-463+16976T>C (n.-463+16976T>C) | |
17 | g.44006596A>T | CA399726218 | NAGS,PYY | c.983A>T (p.Lys328Ile) c.890A>T (p.Lys297Ile) n.258A>T c.485A>T (p.Lys162Ile) c.-463+16976T>A (n.-463+16976T>A) | |
17 | g.44006597A>C | CA399726219 | NAGS,PYY | c.984A>C (p.Lys328Asn) c.891A>C (p.Lys297Asn) n.259A>C c.486A>C (p.Lys162Asn) c.-463+16975T>G (n.-463+16975T>G) | ClinVar |
17 | g.44006597A>G | CA500241099 | NAGS,PYY | c.984A>G (p.Lys328=) c.891A>G (p.Lys297=) n.259A>G c.486A>G (p.Lys162=) c.-463+16975T>C (n.-463+16975T>C) | |
17 | g.44006597A>T | CA399726221 | NAGS,PYY | c.984A>T (p.Lys328Asn) c.891A>T (p.Lys297Asn) n.259A>T c.486A>T (p.Lys162Asn) c.-463+16975T>A (n.-463+16975T>A) | gnomAD v4 |
17 | g.44006598G>A | CA399726225 | NAGS,PYY | c.985G>A (p.Glu329Lys) c.892G>A (p.Glu298Lys) n.260G>A c.487G>A (p.Glu163Lys) c.-463+16974C>T (n.-463+16974C>T) | |
17 | g.44006598G>C | CA399726223 | NAGS,PYY | c.985G>C (p.Glu329Gln) c.892G>C (p.Glu298Gln) n.260G>C c.487G>C (p.Glu163Gln) c.-463+16974C>G (n.-463+16974C>G) | |
17 | g.44006598G>T | CA399726222 | NAGS,PYY | c.985G>T (p.Glu329Ter) c.892G>T (p.Glu298Ter) n.260G>T c.487G>T (p.Glu163Ter) c.-463+16974C>A (n.-463+16974C>A) | gnomAD v4 |
17 | g.44006599A>C | CA399726226 | NAGS,PYY | c.986A>C (p.Glu329Ala) c.893A>C (p.Glu298Ala) n.261A>C c.488A>C (p.Glu163Ala) c.-463+16973T>G (n.-463+16973T>G) | |
17 | g.44006599A>G | CA399726228 | NAGS,PYY | c.986A>G (p.Glu329Gly) c.893A>G (p.Glu298Gly) n.261A>G c.488A>G (p.Glu163Gly) c.-463+16973T>C (n.-463+16973T>C) | |
17 | g.44006599A>T | CA399726230 | NAGS,PYY | c.986A>T (p.Glu329Val) c.893A>T (p.Glu298Val) n.261A>T c.488A>T (p.Glu163Val) c.-463+16973T>A (n.-463+16973T>A) | |
17 | g.44006600A>C | CA399726232 | NAGS,PYY | c.987A>C (p.Glu329Asp) c.894A>C (p.Glu298Asp) n.262A>C c.489A>C (p.Glu163Asp) c.-463+16972T>G (n.-463+16972T>G) | |
17 | g.44006600A>G | CA500241100 | NAGS,PYY | c.987A>G (p.Glu329=) c.894A>G (p.Glu298=) n.262A>G c.489A>G (p.Glu163=) c.-463+16972T>C (n.-463+16972T>C) | |
17 | g.44006600A>T | CA399726233 | NAGS,PYY | c.987A>T (p.Glu329Asp) c.894A>T (p.Glu298Asp) n.262A>T c.489A>T (p.Glu163Asp) c.-463+16972T>A (n.-463+16972T>A) | |
17 | g.44006601C>A | CA500241101 | NAGS,PYY | c.988C>A (p.Arg330=) c.895C>A (p.Arg299=) n.263C>A c.490C>A (p.Arg164=) c.-463+16971G>T (n.-463+16971G>T) | |
17 | g.44006601C= | CA2261182209 | NAGS,PYY | c.988C= (p.Arg330=) c.895C= (p.Arg299=) n.263C= c.490C= (p.Arg164=) c.-463+16971G= (n.-463+16971G=) | |
17 | g.44006601C>G | CA399726235 | NAGS,PYY | c.988C>G (p.Arg330Gly) c.895C>G (p.Arg299Gly) n.263C>G c.490C>G (p.Arg164Gly) c.-463+16971G>C (n.-463+16971G>C) | |
17 | g.44006601C>T | CA8595288 | NAGS,PYY | c.988C>T (p.Arg330Trp) c.895C>T (p.Arg299Trp) n.263C>T c.490C>T (p.Arg164Trp) c.-463+16971G>A (n.-463+16971G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44006602G>A | CA399726238 | NAGS,PYY | c.989G>A (p.Arg330Gln) c.896G>A (p.Arg299Gln) n.264G>A c.491G>A (p.Arg164Gln) c.-463+16970C>T (n.-463+16970C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44006602G>C | CA399726240 | NAGS,PYY | c.989G>C (p.Arg330Pro) c.896G>C (p.Arg299Pro) n.264G>C c.491G>C (p.Arg164Pro) c.-463+16970C>G (n.-463+16970C>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44006602G= | CA2261182210 | NAGS,PYY | c.989G= (p.Arg330=) c.896G= (p.Arg299=) n.264G= c.491G= (p.Arg164=) c.-463+16970C= (n.-463+16970C=) | |
17 | g.44006602G>T | CA399726242 | NAGS,PYY | c.989G>T (p.Arg330Leu) c.896G>T (p.Arg299Leu) n.264G>T c.491G>T (p.Arg164Leu) c.-463+16970C>A (n.-463+16970C>A) | gnomAD v4 |
17 | g.44006603G>A | CA500241102 | NAGS,PYY | c.990G>A (p.Arg330=) c.897G>A (p.Arg299=) n.265G>A c.492G>A (p.Arg164=) c.-463+16969C>T (n.-463+16969C>T) | |
17 | g.44006603G>C | CA500241103 | NAGS,PYY | c.990G>C (p.Arg330=) c.897G>C (p.Arg299=) n.265G>C c.492G>C (p.Arg164=) c.-463+16969C>G (n.-463+16969C>G) | |
17 | g.44006603G>T | CA500241104 | NAGS,PYY | c.990G>T (p.Arg330=) c.897G>T (p.Arg299=) n.265G>T c.492G>T (p.Arg164=) c.-463+16969C>A (n.-463+16969C>A) | gnomAD v4 |
17 | g.44006604C>A | CA399726244 | NAGS,PYY | c.991C>A (p.Gln331Lys) c.898C>A (p.Gln300Lys) n.266C>A c.493C>A (p.Gln165Lys) c.-463+16968G>T (n.-463+16968G>T) | |
17 | g.44006604C= | CA2261182211 | NAGS,PYY | c.991C= (p.Gln331=) c.898C= (p.Gln300=) n.266C= c.493C= (p.Gln165=) c.-463+16968G= (n.-463+16968G=) | |
17 | g.44006604C>G | CA399726245 | NAGS,PYY | c.991C>G (p.Gln331Glu) c.898C>G (p.Gln300Glu) n.266C>G c.493C>G (p.Gln165Glu) c.-463+16968G>C (n.-463+16968G>C) | |
17 | g.44006604C>T | CA399726246 | NAGS,PYY | c.991C>T (p.Gln331Ter) c.898C>T (p.Gln300Ter) n.266C>T c.493C>T (p.Gln165Ter) c.-463+16968G>A (n.-463+16968G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44006605A>C | CA399726252 | NAGS,PYY | c.992A>C (p.Gln331Pro) c.899A>C (p.Gln300Pro) n.267A>C c.494A>C (p.Gln165Pro) c.-463+16967T>G (n.-463+16967T>G) | |
17 | g.44006605A>G | CA399726250 | NAGS,PYY | c.992A>G (p.Gln331Arg) c.899A>G (p.Gln300Arg) n.267A>G c.494A>G (p.Gln165Arg) c.-463+16967T>C (n.-463+16967T>C) | gnomAD v4 |
17 | g.44006605A>T | CA399726249 | NAGS,PYY | c.992A>T (p.Gln331Leu) c.899A>T (p.Gln300Leu) n.267A>T c.494A>T (p.Gln165Leu) c.-463+16967T>A (n.-463+16967T>A) | |
17 | g.44006606G>A | CA500241105 | NAGS,PYY | c.993G>A (p.Gln331=) c.900G>A (p.Gln300=) n.268G>A c.495G>A (p.Gln165=) c.-463+16966C>T (n.-463+16966C>T) | dbSNP gnomAD v4 |
17 | g.44006606G>C | CA399726255 | NAGS,PYY | c.993G>C (p.Gln331His) c.900G>C (p.Gln300His) n.268G>C c.495G>C (p.Gln165His) c.-463+16966C>G (n.-463+16966C>G) |