Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70175852T>A | CA400862180 | KCNJ2 | c.813T>A (p.His271Gln) | |
17 | g.70175852T>C | CA501700371 | KCNJ2 | c.813T>C (p.His271=) | |
17 | g.70175852T>G | CA400862182 | KCNJ2 | c.813T>G (p.His271Gln) | |
17 | g.70175853G>A | CA400862184 | KCNJ2 | c.814G>A (p.Glu272Lys) | |
17 | g.70175853G>C | CA400862186 | KCNJ2 | c.814G>C (p.Glu272Gln) | |
17 | g.70175853G>T | CA400862188 | KCNJ2 | c.814G>T (p.Glu272Ter) | |
17 | g.70175854A>C | CA400862190 | KCNJ2 | c.815A>C (p.Glu272Ala) | |
17 | g.70175854A>G | CA400862193 | KCNJ2 | c.815A>G (p.Glu272Gly) | |
17 | g.70175854A>T | CA400862195 | KCNJ2 | c.815A>T (p.Glu272Val) | |
17 | g.70175855A>C | CA400862197 | KCNJ2 | c.816A>C (p.Glu272Asp) | |
17 | g.70175855A>G | CA501700375 | KCNJ2 | c.816A>G (p.Glu272=) | |
17 | g.70175855A>T | CA400862199 | KCNJ2 | c.816A>T (p.Glu272Asp) | |
17 | g.70175856A= | CA2272996708 | KCNJ2 | c.817A= (p.Ile273=) | |
17 | g.70175856A>C | CA400862201 | KCNJ2 | c.817A>C (p.Ile273Leu) | |
17 | g.70175856A>G | CA400862203 | KCNJ2 | c.817A>G (p.Ile273Val) | dbSNP |
17 | g.70175856A>T | CA400862205 | KCNJ2 | c.817A>T (p.Ile273Leu) | |
17 | g.70175857T>A | CA400862207 | KCNJ2 | c.818T>A (p.Ile273Lys) | |
17 | g.70175857T>C | CA400862209 | KCNJ2 | c.818T>C (p.Ile273Thr) | |
17 | g.70175857T>G | CA400862211 | KCNJ2 | c.818T>G (p.Ile273Arg) | |
17 | g.70175858A= | CA2272996709 | KCNJ2 | c.819A= (p.Ile273=) | |
17 | g.70175858A>C | CA501700379 | KCNJ2 | c.819A>C (p.Ile273=) | |
17 | g.70175858A>G | CA400862213 | KCNJ2 | c.819A>G (p.Ile273Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175858A>T | CA501700383 | KCNJ2 | c.819A>T (p.Ile273=) | |
17 | g.70175859G>A | CA400862215 | KCNJ2 | c.820G>A (p.Asp274Asn) | |
17 | g.70175859G>C | CA400862218 | KCNJ2 | c.820G>C (p.Asp274His) | |
17 | g.70175859G>T | CA400862220 | KCNJ2 | c.820G>T (p.Asp274Tyr) | |
17 | g.70175860A= | CA2272996710 | KCNJ2 | c.821A= (p.Asp274=) | |
17 | g.70175860A>C | CA400862221 | KCNJ2 | c.821A>C (p.Asp274Ala) | |
17 | g.70175860A>G | CA400862223 | KCNJ2 | c.821A>G (p.Asp274Gly) | gnomAD v4 |
17 | g.70175860A>T | CA302049 | KCNJ2 | c.821A>T (p.Asp274Val) | ClinVar dbSNP gnomAD v4 |
17 | g.70175861T>A | CA400862225 | KCNJ2 | c.822T>A (p.Asp274Glu) | gnomAD v4 |
17 | g.70175861T>C | CA501700392 | KCNJ2 | c.822T>C (p.Asp274=) | |
17 | g.70175861T>G | CA400862227 | KCNJ2 | c.822T>G (p.Asp274Glu) | |
17 | g.70175862G>A | CA400862229 | KCNJ2 | c.823G>A (p.Glu275Lys) | |
17 | g.70175862G>C | CA400862231 | KCNJ2 | c.823G>C (p.Glu275Gln) | |
17 | g.70175862G>T | CA400862233 | KCNJ2 | c.823G>T (p.Glu275Ter) | |
17 | g.70175863A>C | CA400862236 | KCNJ2 | c.824A>C (p.Glu275Ala) | |
17 | g.70175863A>G | CA400862238 | KCNJ2 | c.824A>G (p.Glu275Gly) | |
17 | g.70175863A>T | CA400862239 | KCNJ2 | c.824A>T (p.Glu275Val) | |
17 | g.70175864A>C | CA400862242 | KCNJ2 | c.825A>C (p.Glu275Asp) | |
17 | g.70175864A>G | CA501700401 | KCNJ2 | c.825A>G (p.Glu275=) | |
17 | g.70175864A>T | CA400862241 | KCNJ2 | c.825A>T (p.Glu275Asp) | |
17 | g.70175865G>A | CA400862244 | KCNJ2 | c.826G>A (p.Asp276Asn) | |
17 | g.70175865G>C | CA400862246 | KCNJ2 | c.826G>C (p.Asp276His) | |
17 | g.70175865G>T | CA400862248 | KCNJ2 | c.826G>T (p.Asp276Tyr) | |
17 | g.70175866A= | CA2272996711 | KCNJ2 | c.827A= (p.Asp276=) | |
17 | g.70175866A>C | CA400862250 | KCNJ2 | c.827A>C (p.Asp276Ala) | |
17 | g.70175866A>G | CA400862252 | KCNJ2 | c.827A>G (p.Asp276Gly) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175866A>T | CA400862254 | KCNJ2 | c.827A>T (p.Asp276Val) | |
17 | g.70175867C>A | CA400862256 | KCNJ2 | c.828C>A (p.Asp276Glu) | gnomAD v4 |