Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
17 | g.70175885G>T | CA400862345 | KCNJ2 | c.846G>T (p.Leu282Phe) | |
17 | g.70175886A>C | CA400862347 | KCNJ2 | c.847A>C (p.Ser283Arg) | |
17 | g.70175886A>G | CA400862349 | KCNJ2 | c.847A>G (p.Ser283Gly) | gnomAD v4 |
17 | g.70175886A>T | CA400862351 | KCNJ2 | c.847A>T (p.Ser283Cys) | |
17 | g.70175887G>A | CA8738769 | KCNJ2 | c.848G>A (p.Ser283Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175887G>C | CA400862354 | KCNJ2 | c.848G>C (p.Ser283Thr) | |
17 | g.70175887G= | CA2272996716 | KCNJ2 | c.848G= (p.Ser283=) | |
17 | g.70175887G>T | CA400862355 | KCNJ2 | c.848G>T (p.Ser283Ile) | |
17 | g.70175888T>A | CA400862357 | KCNJ2 | c.849T>A (p.Ser283Arg) | |
17 | g.70175888T>C | CA501700474 | KCNJ2 | c.849T>C (p.Ser283=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175888T>G | CA400862359 | KCNJ2 | c.849T>G (p.Ser283Arg) | |
17 | g.70175888T= | CA2272996717 | KCNJ2 | c.849T= (p.Ser283=) | |
17 | g.70175889A>C | CA400862363 | KCNJ2 | c.850A>C (p.Lys284Gln) | |
17 | g.70175889A>G | CA400862364 | KCNJ2 | c.850A>G (p.Lys284Glu) | |
17 | g.70175889A>T | CA400862361 | KCNJ2 | c.850A>T (p.Lys284Ter) | |
17 | g.70175890A>C | CA400862365 | KCNJ2 | c.851A>C (p.Lys284Thr) | |
17 | g.70175890A>G | CA400862367 | KCNJ2 | c.851A>G (p.Lys284Arg) | |
17 | g.70175890A>T | CA400862369 | KCNJ2 | c.851A>T (p.Lys284Ile) | |
17 | g.70175891A>C | CA400862371 | KCNJ2 | c.852A>C (p.Lys284Asn) | |
17 | g.70175891A>G | CA501700485 | KCNJ2 | c.852A>G (p.Lys284=) | |
17 | g.70175891A>T | CA400862372 | KCNJ2 | c.852A>T (p.Lys284Asn) | |
17 | g.70175892C>A | CA400862375 | KCNJ2 | c.853C>A (p.Gln285Lys) | |
17 | g.70175892C= | CA2272996718 | KCNJ2 | c.853C= (p.Gln285=) | |
17 | g.70175892C>G | CA8738770 | KCNJ2 | c.853C>G (p.Gln285Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175892C>T | CA400862378 | KCNJ2 | c.853C>T (p.Gln285Ter) | ClinVar dbSNP |