Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.5044863T>A | CA383465010 | KCNA5 | c.716T>A (p.Ile239Asn) | |
12 | g.5044863T>C | CA383465011 | KCNA5 | c.716T>C (p.Ile239Thr) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044863T>G | CA383465012 | KCNA5 | c.716T>G (p.Ile239Ser) | |
12 | g.5044863T= | CA2013430923 | KCNA5 | c.716T= (p.Ile239=) | |
12 | g.5044864C>A | CA478095316 | KCNA5 | c.717C>A (p.Ile239=) | COSMIC |
12 | g.5044864C= | CA2013430924 | KCNA5 | c.717C= (p.Ile239=) | |
12 | g.5044864C>G | CA383465013 | KCNA5 | c.717C>G (p.Ile239Met) | |
12 | g.5044864C>T | CA6399702 | KCNA5 | c.717C>T (p.Ile239=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044865T>A | CA383465014 | KCNA5 | c.718T>A (p.Phe240Ile) | |
12 | g.5044865T>C | CA383465015 | KCNA5 | c.718T>C (p.Phe240Leu) | |
12 | g.5044865T>G | CA383465016 | KCNA5 | c.718T>G (p.Phe240Val) | |
12 | g.5044866T>A | CA383465017 | KCNA5 | c.719T>A (p.Phe240Tyr) | gnomAD v4 |
12 | g.5044866T>C | CA383465018 | KCNA5 | c.719T>C (p.Phe240Ser) | |
12 | g.5044866T>G | CA6399703 | KCNA5 | c.719T>G (p.Phe240Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044866T= | CA2013430925 | KCNA5 | c.719T= (p.Phe240=) | |
12 | g.5044867C>A | CA383465019 | KCNA5 | c.720C>A (p.Phe240Leu) | |
12 | g.5044867C= | CA2013430926 | KCNA5 | c.720C= (p.Phe240=) | |
12 | g.5044867C>G | CA383465020 | KCNA5 | c.720C>G (p.Phe240Leu) | dbSNP |
12 | g.5044867C>T | CA478095320 | KCNA5 | c.720C>T (p.Phe240=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044868G>A | CA383465021 | KCNA5 | c.721G>A (p.Glu241Lys) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044868G>C | CA383465023 | KCNA5 | c.721G>C (p.Glu241Gln) | |
12 | g.5044868G= | CA2013430927 | KCNA5 | c.721G= (p.Glu241=) | |
12 | g.5044868G>T | CA383465022 | KCNA5 | c.721G>T (p.Glu241Ter) | |
12 | g.5044869A= | CA2013430928 | KCNA5 | c.722A= (p.Glu241=) | |
12 | g.5044869A>C | CA383465024 | KCNA5 | c.722A>C (p.Glu241Ala) | |
12 | g.5044869A>G | CA383465025 | KCNA5 | c.722A>G (p.Glu241Gly) | |
12 | g.5044869A>T | CA383465026 | KCNA5 | c.722A>T (p.Glu241Val) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044870G>A | CA478095323 | KCNA5 | c.723G>A (p.Glu241=) | |
12 | g.5044870G>C | CA383465027 | KCNA5 | c.723G>C (p.Glu241Asp) | |
12 | g.5044870G>T | CA383465028 | KCNA5 | c.723G>T (p.Glu241Asp) | |
12 | g.5044871T>A | CA383465029 | KCNA5 | c.724T>A (p.Tyr242Asn) | |
12 | g.5044871T>C | CA383465030 | KCNA5 | c.724T>C (p.Tyr242His) | |
12 | g.5044871T>G | CA383465031 | KCNA5 | c.724T>G (p.Tyr242Asp) | gnomAD v4 |
12 | g.5044872A>C | CA383465032 | KCNA5 | c.725A>C (p.Tyr242Ser) | |
12 | g.5044872A>G | CA383465033 | KCNA5 | c.725A>G (p.Tyr242Cys) | |
12 | g.5044872A>T | CA383465034 | KCNA5 | c.725A>T (p.Tyr242Phe) | |
12 | g.5044873T>A | CA383465035 | KCNA5 | c.726T>A (p.Tyr242Ter) | |
12 | g.5044873T>C | CA478095326 | KCNA5 | c.726T>C (p.Tyr242=) | |
12 | g.5044873T>G | CA383465036 | KCNA5 | c.726T>G (p.Tyr242Ter) | |
12 | g.5044874C>A | CA383465037 | KCNA5 | c.727C>A (p.Pro243Thr) | |
12 | g.5044874C= | CA2013430929 | KCNA5 | c.727C= (p.Pro243=) | |
12 | g.5044874C>G | CA231867718 | KCNA5 | c.727C>G (p.Pro243Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044874C>T | CA383465038 | KCNA5 | c.727C>T (p.Pro243Ser) | gnomAD v4 COSMIC |
12 | g.5044875C>A | CA383465039 | KCNA5 | c.728C>A (p.Pro243Gln) | |
12 | g.5044875C= | CA2013430930 | KCNA5 | c.728C= (p.Pro243=) | |
12 | g.5044875C>G | CA383465040 | KCNA5 | c.728C>G (p.Pro243Arg) | |
12 | g.5044875C>T | CA6399704 | KCNA5 | c.728C>T (p.Pro243Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044876G>A | CA6399705 | KCNA5 | c.729G>A (p.Pro243=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044876G>C | CA478095331 | KCNA5 | c.729G>C (p.Pro243=) | gnomAD v4 |
12 | g.5044876G= | CA2013430931 | KCNA5 | c.729G= (p.Pro243=) |