Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70175905A>C | CA400862441 | KCNJ2 | c.866A>C (p.Asn289Thr) | |
17 | g.70175905A>G | CA400862443 | KCNJ2 | c.866A>G (p.Asn289Ser) | |
17 | g.70175905A>T | CA400862445 | KCNJ2 | c.866A>T (p.Asn289Ile) | |
17 | g.70175906C>A | CA400862447 | KCNJ2 | c.867C>A (p.Asn289Lys) | |
17 | g.70175906C= | CA2272996723 | KCNJ2 | c.867C= (p.Asn289=) | |
17 | g.70175906C>G | CA400862449 | KCNJ2 | c.867C>G (p.Asn289Lys) | gnomAD v4 |
17 | g.70175906C>T | CA8738775 | KCNJ2 | c.867C>T (p.Asn289=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175907G>A | CA400862454 | KCNJ2 | c.868G>A (p.Ala290Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.70175907G>C | CA400862452 | KCNJ2 | c.868G>C (p.Ala290Pro) | |
17 | g.70175907G= | CA2272996724 | KCNJ2 | c.868G= (p.Ala290=) | |
17 | g.70175907G>T | CA293702928 | KCNJ2 | c.868G>T (p.Ala290Ser) | dbSNP gnomAD v4 |
17 | g.70175908C>A | CA400862456 | KCNJ2 | c.869C>A (p.Ala290Glu) | |
17 | g.70175908C>G | CA400862458 | KCNJ2 | c.869C>G (p.Ala290Gly) | |
17 | g.70175908C>T | CA400862460 | KCNJ2 | c.869C>T (p.Ala290Val) | |
17 | g.70175909A>C | CA501700541 | KCNJ2 | c.870A>C (p.Ala290=) | |
17 | g.70175909A>G | CA501700543 | KCNJ2 | c.870A>G (p.Ala290=) | |
17 | g.70175909A>T | CA501700545 | KCNJ2 | c.870A>T (p.Ala290=) | |
17 | g.70175910G>A | CA400862462 | KCNJ2 | c.871G>A (p.Asp291Asn) | dbSNP |
17 | g.70175910G>C | CA400862464 | KCNJ2 | c.871G>C (p.Asp291His) | |
17 | g.70175910G= | CA2272996725 | KCNJ2 | c.871G= (p.Asp291=) | |
17 | g.70175910G>T | CA400862466 | KCNJ2 | c.871G>T (p.Asp291Tyr) | |
17 | g.70175911A>C | CA400862468 | KCNJ2 | c.872A>C (p.Asp291Ala) | gnomAD v4 |
17 | g.70175911A>G | CA400862470 | KCNJ2 | c.872A>G (p.Asp291Gly) | |
17 | g.70175911A>T | CA400862472 | KCNJ2 | c.872A>T (p.Asp291Val) | |
17 | g.70175912C>A | CA400862474 | KCNJ2 | c.873C>A (p.Asp291Glu) | |
17 | g.70175912C>G | CA400862477 | KCNJ2 | c.873C>G (p.Asp291Glu) | |
17 | g.70175912C>T | CA501700555 | KCNJ2 | c.873C>T (p.Asp291=) | |
17 | g.70175913T>A | CA400862479 | KCNJ2 | c.874T>A (p.Phe292Ile) | |
17 | g.70175913T>C | CA400862481 | KCNJ2 | c.874T>C (p.Phe292Leu) | |
17 | g.70175913T>G | CA400862483 | KCNJ2 | c.874T>G (p.Phe292Val) | |
17 | g.70175914T>A | CA400862488 | KCNJ2 | c.875T>A (p.Phe292Tyr) | |
17 | g.70175914T>C | CA400862490 | KCNJ2 | c.875T>C (p.Phe292Ser) | |
17 | g.70175914T>G | CA400862486 | KCNJ2 | c.875T>G (p.Phe292Cys) | |
17 | g.70175915T>A | CA400862492 | KCNJ2 | c.876T>A (p.Phe292Leu) | |
17 | g.70175915T>C | CA501700562 | KCNJ2 | c.876T>C (p.Phe292=) | |
17 | g.70175915T>G | CA400862494 | KCNJ2 | c.876T>G (p.Phe292Leu) | |
17 | g.70175916G>A | CA400862496 | KCNJ2 | c.877G>A (p.Glu293Lys) | |
17 | g.70175916G>C | CA400862498 | KCNJ2 | c.877G>C (p.Glu293Gln) | ClinVar dbSNP |
17 | g.70175916G>T | CA400862500 | KCNJ2 | c.877G>T (p.Glu293Ter) | |
17 | g.70175917A>C | CA400862503 | KCNJ2 | c.878A>C (p.Glu293Ala) | |
17 | g.70175917A>G | CA400862505 | KCNJ2 | c.878A>G (p.Glu293Gly) | |
17 | g.70175917A>T | CA400862506 | KCNJ2 | c.878A>T (p.Glu293Val) | |
17 | g.70175918A>C | CA400862509 | KCNJ2 | c.879A>C (p.Glu293Asp) | |
17 | g.70175918A>G | CA501700568 | KCNJ2 | c.879A>G (p.Glu293=) | |
17 | g.70175918A>T | CA400862511 | KCNJ2 | c.879A>T (p.Glu293Asp) | gnomAD v4 |
17 | g.70175919A>C | CA400862513 | KCNJ2 | c.880A>C (p.Ile294Leu) | |
17 | g.70175919A>G | CA400862515 | KCNJ2 | c.880A>G (p.Ile294Val) | |
17 | g.70175919A>T | CA400862517 | KCNJ2 | c.880A>T (p.Ile294Phe) | |
17 | g.70175920T>A | CA400862523 | KCNJ2 | c.881T>A (p.Ile294Asn) | |
17 | g.70175920T>C | CA400862519 | KCNJ2 | c.881T>C (p.Ile294Thr) |