Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
17 | g.70175196C>A | CA400859992 | KCNJ2 | c.157C>A (p.His53Asn) | |
17 | g.70175196C>G | CA400859993 | KCNJ2 | c.157C>G (p.His53Asp) | |
17 | g.70175196C>T | CA400859991 | KCNJ2 | c.157C>T (p.His53Tyr) | |
17 | g.70175197A= | CA2272996465 | KCNJ2 | c.158A= (p.His53=) | |
17 | g.70175197A>C | CA400859994 | KCNJ2 | c.158A>C (p.His53Pro) | |
17 | g.70175197A>G | CA400859995 | KCNJ2 | c.158A>G (p.His53Arg) | ClinVar dbSNP |
17 | g.70175197A>T | CA400859996 | KCNJ2 | c.158A>T (p.His53Leu) | |
17 | g.70175198C>A | CA400859997 | KCNJ2 | c.159C>A (p.His53Gln) | |
17 | g.70175198C>G | CA400859998 | KCNJ2 | c.159C>G (p.His53Gln) | |
17 | g.70175198C>T | CA501700316 | KCNJ2 | c.159C>T (p.His53=) | |
17 | g.70175199T>A | CA400859999 | KCNJ2 | c.160T>A (p.Cys54Ser) | |
17 | g.70175199T>C | CA400860000 | KCNJ2 | c.160T>C (p.Cys54Arg) | |
17 | g.70175199T>G | CA400860001 | KCNJ2 | c.160T>G (p.Cys54Gly) | ClinVar dbSNP |
17 | g.70175200G>A | CA400860002 | KCNJ2 | c.161G>A (p.Cys54Tyr) | |
17 | g.70175200G>C | CA400860003 | KCNJ2 | c.161G>C (p.Cys54Ser) | |
17 | g.70175200G= | CA2272996466 | KCNJ2 | c.161G= (p.Cys54=) | |
17 | g.70175200G>T | CA145011 | KCNJ2 | c.161G>T (p.Cys54Phe) | ClinVar dbSNP |
17 | g.70175201T>A | CA400860004 | KCNJ2 | c.162T>A (p.Cys54Ter) | |
17 | g.70175201T>C | CA501700317 | KCNJ2 | c.162T>C (p.Cys54=) | |
17 | g.70175201T>G | CA400860005 | KCNJ2 | c.162T>G (p.Cys54Trp) | |
17 | g.70175201T= | CA2272996467 | KCNJ2 | c.162T= (p.Cys54=) | |
17 | g.70175202A>C | CA400860007 | KCNJ2 | c.163A>C (p.Asn55His) | |
17 | g.70175202A>G | CA400860008 | KCNJ2 | c.163A>G (p.Asn55Asp) | |
17 | g.70175202A>T | CA400860006 | KCNJ2 | c.163A>T (p.Asn55Tyr) | |
17 | g.70175203dup | CA293702902 | KCNJ2 | c.164dup (p.Asn55LysfsTer9) | dbSNP |
17 | g.70175203A= | CA2272996468 | KCNJ2 | c.164A= (p.Asn55=) | |
17 | g.70175203A>C | CA400860009 | KCNJ2 | c.164A>C (p.Asn55Thr) | |
17 | g.70175203A>G | CA400860010 | KCNJ2 | c.164A>G (p.Asn55Ser) | |
17 | g.70175203A>T | CA400860011 | KCNJ2 | c.164A>T (p.Asn55Ile) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175204T>A | CA400860012 | KCNJ2 | c.165T>A (p.Asn55Lys) | |
17 | g.70175204T>C | CA8738696 | KCNJ2 | c.165T>C (p.Asn55=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175204T>G | CA400860013 | KCNJ2 | c.165T>G (p.Asn55Lys) | |
17 | g.70175204T= | CA2272996469 | KCNJ2 | c.165T= (p.Asn55=) | |
17 | g.70175205G>A | CA400860014 | KCNJ2 | c.166G>A (p.Val56Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175205G>C | CA400860015 | KCNJ2 | c.166G>C (p.Val56Leu) | |
17 | g.70175205G= | CA2272996470 | KCNJ2 | c.166G= (p.Val56=) | |
17 | g.70175205G>T | CA400860016 | KCNJ2 | c.166G>T (p.Val56Phe) | |
17 | g.70175206T>A | CA400860017 | KCNJ2 | c.167T>A (p.Val56Asp) | |
17 | g.70175206T>C | CA400860018 | KCNJ2 | c.167T>C (p.Val56Ala) | dbSNP |
17 | g.70175206T>G | CA400860019 | KCNJ2 | c.167T>G (p.Val56Gly) | |
17 | g.70175206T= | CA2272996471 | KCNJ2 | c.167T= (p.Val56=) | |
17 | g.70175207T>A | CA501700318 | KCNJ2 | c.168T>A (p.Val56=) | |
17 | g.70175207T>C | CA8738697 | KCNJ2 | c.168T>C (p.Val56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175207T>G | CA501700319 | KCNJ2 | c.168T>G (p.Val56=) | |
17 | g.70175207T= | CA2272996472 | KCNJ2 | c.168T= (p.Val56=) | |
17 | g.70175208C>A | CA400860021 | KCNJ2 | c.169C>A (p.Gln57Lys) | |
17 | g.70175208C>G | CA400860020 | KCNJ2 | c.169C>G (p.Gln57Glu) | |
17 | g.70175208C>T | CA400860022 | KCNJ2 | c.169C>T (p.Gln57Ter) | ClinVar |
17 | g.70175209A= | CA2272996473 | KCNJ2 | c.170A= (p.Gln57=) |