Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
17 | g.70175880G>T | CA400862322 | KCNJ2 | c.841G>T (p.Asp281Tyr) | COSMIC |
17 | g.70175881A= | CA2272996714 | KCNJ2 | c.842A= (p.Asp281=) | |
17 | g.70175881A>C | CA293702927 | KCNJ2 | c.842A>C (p.Asp281Ala) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175881A>G | CA400862326 | KCNJ2 | c.842A>G (p.Asp281Gly) | |
17 | g.70175881A>T | CA400862328 | KCNJ2 | c.842A>T (p.Asp281Val) | |
17 | g.70175882T>A | CA400862330 | KCNJ2 | c.843T>A (p.Asp281Glu) | |
17 | g.70175882T>C | CA501700457 | KCNJ2 | c.843T>C (p.Asp281=) | |
17 | g.70175882T>G | CA400862332 | KCNJ2 | c.843T>G (p.Asp281Glu) | |
17 | g.70175883T>A | CA400862334 | KCNJ2 | c.844T>A (p.Leu282Met) | |
17 | g.70175883T>C | CA501700459 | KCNJ2 | c.844T>C (p.Leu282=) | |
17 | g.70175883T>G | CA400862336 | KCNJ2 | c.844T>G (p.Leu282Val) | |
17 | g.70175884T>A | CA400862338 | KCNJ2 | c.845T>A (p.Leu282Ter) | |
17 | g.70175884T>C | CA400862341 | KCNJ2 | c.845T>C (p.Leu282Ser) | |
17 | g.70175884T>G | CA8738768 | KCNJ2 | c.845T>G (p.Leu282Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175884T= | CA2272996715 | KCNJ2 | c.845T= (p.Leu282=) | |
17 | g.70175885G>A | CA501700465 | KCNJ2 | c.846G>A (p.Leu282=) | |
17 | g.70175885G>C | CA400862343 | KCNJ2 | c.846G>C (p.Leu282Phe) |