Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70177171C>A | CA985918764 | KCNJ2 | c.*848C>A (n.*848C>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70177171C= | CA2272997235 | KCNJ2 | c.*848C= (n.*848C=) | |
17 | g.70177171C>T | CA774607408 | KCNJ2 | c.*848C>T (n.*848C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70177172C>A | CA2639594411 | KCNJ2 | c.*849C>A (n.*849C>A) | gnomAD v4 |
17 | g.70177172C>T | CA2810293700 | KCNJ2 | c.*849C>T (n.*849C>T) | |
17 | g.70177174del | CA2639594412 | KCNJ2 | c.*851del (n.*851del) | gnomAD v4 |
17 | g.70177174T>C | CA2272997237 | KCNJ2 | c.*851T>C (n.*851T>C) | dbSNP |
17 | g.70177174T= | CA2272997236 | KCNJ2 | c.*851T= (n.*851T=) | |
17 | g.70177177T>A | CA2810293701 | KCNJ2 | c.*854T>A (n.*854T>A) | |
17 | g.70177178C>A | CA2639594413 | KCNJ2 | c.*855C>A (n.*855C>A) | gnomAD v4 |
17 | g.70177182A= | CA2272997238 | KCNJ2 | c.*859A= (n.*859A=) | |
17 | g.70177182A>C | CA293703020 | KCNJ2 | c.*859A>C (n.*859A>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70177185T>C | CA2272997240 | KCNJ2 | c.*862T>C (n.*862T>C) | dbSNP |
17 | g.70177185T= | CA2272997239 | KCNJ2 | c.*862T= (n.*862T=) | |
17 | g.70177188A= | CA2272997242 | KCNJ2 | c.*865A= (n.*865A=) | |
17 | g.70177188A>G | CA2272997241 | KCNJ2 | c.*865A>G (n.*865A>G) | dbSNP |
17 | g.70177189G>T | CA2639594414 | KCNJ2 | c.*866G>T (n.*866G>T) | gnomAD v4 |
17 | g.70177192T>G | CA2272997244 | KCNJ2 | c.*869T>G (n.*869T>G) | dbSNP |
17 | g.70177192T= | CA2272997243 | KCNJ2 | c.*869T= (n.*869T=) | |
17 | g.70177193C= | CA2272997245 | KCNJ2 | c.*870C= (n.*870C=) | |
17 | g.70177193C>T | CA2272997246 | KCNJ2 | c.*870C>T (n.*870C>T) | dbSNP |
17 | g.70177194A= | CA2272997247 | KCNJ2 | c.*871A= (n.*871A=) | |
17 | g.70177194A>G | CA2272997248 | KCNJ2 | c.*871A>G (n.*871A>G) | dbSNP |
17 | g.70177196A= | CA2272997249 | KCNJ2 | c.*873A= (n.*873A=) | |
17 | g.70177196A>G | CA774607410 | KCNJ2 | c.*873A>G (n.*873A>G) | dbSNP |
17 | g.70177197_70177205delinsCTCACCGAG | CA2272997250 | KCNJ2 | c.*874_*882delinsCTCACCGAG (n.*874_*882delinsCTCACCGAG) | |
17 | g.70177200_70177207del | CA2272997251 | KCNJ2 | c.*877_*884del (n.*877_*884del) | dbSNP |
17 | g.70177199C>A | CA2639594415 | KCNJ2 | c.*876C>A (n.*876C>A) | gnomAD v4 |
17 | g.70177199C= | CA2272997252 | KCNJ2 | c.*876C= (n.*876C=) | |
17 | g.70177199C>T | CA774607412 | KCNJ2 | c.*876C>T (n.*876C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70177200A>G | CA2639594416 | KCNJ2 | c.*877A>G (n.*877A>G) | gnomAD v4 |
17 | g.70177202C= | CA2272997253 | KCNJ2 | c.*879C= (n.*879C=) | |
17 | g.70177202C>T | CA293703021 | KCNJ2 | c.*879C>T (n.*879C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70177203G>A | CA293703022 | KCNJ2 | c.*880G>A (n.*880G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70177203G= | CA2272997254 | KCNJ2 | c.*880G= (n.*880G=) | |
17 | g.70177203G>T | CA2810293702 | KCNJ2 | c.*880G>T (n.*880G>T) | |
17 | g.70177204A= | CA2272997255 | KCNJ2 | c.*881A= (n.*881A=) | |
17 | g.70177204A>G | CA2639594417 | KCNJ2 | c.*881A>G (n.*881A>G) | gnomAD v4 |
17 | g.70177204A>T | CA293703023 | KCNJ2 | c.*881A>T (n.*881A>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70177205G>A | CA985918777 | KCNJ2 | c.*882G>A (n.*882G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70177205G= | CA2272997256 | KCNJ2 | c.*882G= (n.*882G=) | |
17 | g.70177207C>T | CA2639594418 | KCNJ2 | c.*884C>T (n.*884C>T) | gnomAD v4 |
17 | g.70177208T>C | CA293703024 | KCNJ2 | c.*885T>C (n.*885T>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70177208T= | CA2272997257 | KCNJ2 | c.*885T= (n.*885T=) | |
17 | g.70177209A= | CA2272997258 | KCNJ2 | c.*886A= (n.*886A=) | |
17 | g.70177209_70177210insTTTTCAGT | CA2272997259 | KCNJ2 | c.*886_*887insTTTTCAGT (n.*886_*887insTTTTCAGT) | dbSNP |
17 | g.70177210G>T | CA2639594419 | KCNJ2 | c.*887G>T (n.*887G>T) | gnomAD v4 |
17 | g.70177211_70177212delinsTC | CA2272997260 | KCNJ2 | c.*888_*889delinsTC (n.*888_*889delinsTC) | |
17 | g.70177212del | CA2272997261 | KCNJ2 | c.*889del (n.*889del) | dbSNP |
17 | g.70177212C>A | CA2639594420 | KCNJ2 | c.*889C>A (n.*889C>A) | gnomAD v4 |