Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
17 | g.70175867C= | CA2272996712 | KCNJ2 | c.828C= (p.Asp276=) | |
17 | g.70175867C>G | CA400862258 | KCNJ2 | c.828C>G (p.Asp276Glu) | |
17 | g.70175867C>T | CA501700410 | KCNJ2 | c.828C>T (p.Asp276=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175868A>C | CA400862260 | KCNJ2 | c.829A>C (p.Ser277Arg) | |
17 | g.70175868A>G | CA400862262 | KCNJ2 | c.829A>G (p.Ser277Gly) | |
17 | g.70175868A>T | CA400862265 | KCNJ2 | c.829A>T (p.Ser277Cys) | |
17 | g.70175869G>A | CA400862267 | KCNJ2 | c.830G>A (p.Ser277Asn) | |
17 | g.70175869G>C | CA400862269 | KCNJ2 | c.830G>C (p.Ser277Thr) | |
17 | g.70175869G>T | CA400862271 | KCNJ2 | c.830G>T (p.Ser277Ile) | |
17 | g.70175870T>A | CA400862275 | KCNJ2 | c.831T>A (p.Ser277Arg) | |
17 | g.70175870T>C | CA501700422 | KCNJ2 | c.831T>C (p.Ser277=) | |
17 | g.70175870T>G | CA400862273 | KCNJ2 | c.831T>G (p.Ser277Arg) | |
17 | g.70175871C>A | CA400862277 | KCNJ2 | c.832C>A (p.Pro278Thr) | |
17 | g.70175871C>G | CA400862279 | KCNJ2 | c.832C>G (p.Pro278Ala) | |
17 | g.70175871C>T | CA400862280 | KCNJ2 | c.832C>T (p.Pro278Ser) | |
17 | g.70175872C>A | CA400862283 | KCNJ2 | c.833C>A (p.Pro278His) | |
17 | g.70175872C>G | CA400862285 | KCNJ2 | c.833C>G (p.Pro278Arg) | |
17 | g.70175872C>T | CA400862287 | KCNJ2 | c.833C>T (p.Pro278Leu) | |
17 | g.70175873T>A | CA501700428 | KCNJ2 | c.834T>A (p.Pro278=) | |
17 | g.70175873T>C | CA501700429 | KCNJ2 | c.834T>C (p.Pro278=) | |
17 | g.70175873T>G | CA501700430 | KCNJ2 | c.834T>G (p.Pro278=) | |
17 | g.70175874T>A | CA400862291 | KCNJ2 | c.835T>A (p.Leu279Ile) | |
17 | g.70175874T>C | CA501700433 | KCNJ2 | c.835T>C (p.Leu279=) |