Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | 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=) | |
17 | g.70175874T>G | CA400862289 | KCNJ2 | c.835T>G (p.Leu279Val) | |
17 | g.70175875T>A | CA400862293 | KCNJ2 | c.836T>A (p.Leu279Ter) | |
17 | g.70175875T>C | CA400862295 | KCNJ2 | c.836T>C (p.Leu279Ser) | |
17 | g.70175875T>G | CA400862296 | KCNJ2 | c.836T>G (p.Leu279Ter) | |
17 | g.70175876A= | CA2272996713 | KCNJ2 | c.837A= (p.Leu279=) | |
17 | g.70175876A>C | CA8738767 | KCNJ2 | c.837A>C (p.Leu279Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175876A>G | CA8738766 | KCNJ2 | c.837A>G (p.Leu279=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175876A>T | CA400862300 | KCNJ2 | c.837A>T (p.Leu279Phe) | |
17 | g.70175877T>A | CA400862303 | KCNJ2 | c.838T>A (p.Tyr280Asn) | |
17 | g.70175877T>C | CA400862306 | KCNJ2 | c.838T>C (p.Tyr280His) | gnomAD v4 |
17 | g.70175877T>G | CA400862304 | KCNJ2 | c.838T>G (p.Tyr280Asp) | |
17 | g.70175878A>C | CA400862309 | KCNJ2 | c.839A>C (p.Tyr280Ser) | |
17 | g.70175878A>G | CA400862312 | KCNJ2 | c.839A>G (p.Tyr280Cys) | ClinVar |
17 | g.70175878A>T | CA400862310 | KCNJ2 | c.839A>T (p.Tyr280Phe) | |
17 | g.70175879T>A | CA400862314 | KCNJ2 | c.840T>A (p.Tyr280Ter) | |
17 | g.70175879T>C | CA501700450 | KCNJ2 | c.840T>C (p.Tyr280=) | |
17 | g.70175879T>G | CA400862316 | KCNJ2 | c.840T>G (p.Tyr280Ter) | |
17 | g.70175880G>A | CA400862319 | KCNJ2 | c.841G>A (p.Asp281Asn) | |
17 | g.70175880G>C | CA400862320 | KCNJ2 | c.841G>C (p.Asp281His) | gnomAD v4 |