Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.5045627A= | CA2013431308 | KCNA5 | c.1480A= (p.Lys494=) | |
12 | g.5045627A>C | CA383466580 | KCNA5 | c.1480A>C (p.Lys494Gln) | |
12 | g.5045627A>G | CA383466581 | KCNA5 | c.1480A>G (p.Lys494Glu) | |
12 | g.5045627A>T | CA383466582 | KCNA5 | c.1480A>T (p.Lys494Ter) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045628A>C | CA383466585 | KCNA5 | c.1481A>C (p.Lys494Thr) | gnomAD v4 |
12 | g.5045628A>G | CA383466583 | KCNA5 | c.1481A>G (p.Lys494Arg) | |
12 | g.5045628A>T | CA383466584 | KCNA5 | c.1481A>T (p.Lys494Met) | |
12 | g.5045629G>A | CA478096038 | KCNA5 | c.1482G>A (p.Lys494=) | |
12 | g.5045629G>C | CA383466586 | KCNA5 | c.1482G>C (p.Lys494Asn) | |
12 | g.5045629G>T | CA383466587 | KCNA5 | c.1482G>T (p.Lys494Asn) | |
12 | g.5045630A= | CA2013431309 | KCNA5 | c.1483A= (p.Ile495=) | |
12 | g.5045630A>C | CA383466588 | KCNA5 | c.1483A>C (p.Ile495Leu) | |
12 | g.5045630A>G | CA6399873 | KCNA5 | c.1483A>G (p.Ile495Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045630A>T | CA383466589 | KCNA5 | c.1483A>T (p.Ile495Phe) | dbSNP |
12 | g.5045631T>A | CA383466590 | KCNA5 | c.1484T>A (p.Ile495Asn) | |
12 | g.5045631T>C | CA383466591 | KCNA5 | c.1484T>C (p.Ile495Thr) | gnomAD v4 |
12 | g.5045631T>G | CA383466592 | KCNA5 | c.1484T>G (p.Ile495Ser) | |
12 | g.5045632C>A | CA6399874 | KCNA5 | c.1485C>A (p.Ile495=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045632C= | CA2013431310 | KCNA5 | c.1485C= (p.Ile495=) | |
12 | g.5045632C>G | CA383466593 | KCNA5 | c.1485C>G (p.Ile495Met) | COSMIC |
12 | g.5045632C>T | CA6399875 | KCNA5 | c.1485C>T (p.Ile495=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045633G>A | CA6399876 | KCNA5 | c.1486G>A (p.Val496Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045633G>C | CA383466595 | KCNA5 | c.1486G>C (p.Val496Leu) | |
12 | g.5045633G= | CA2013431311 | KCNA5 | c.1486G= (p.Val496=) | |
12 | g.5045633G>T | CA383466594 | KCNA5 | c.1486G>T (p.Val496Leu) | |
12 | g.5045634T>A | CA383466596 | KCNA5 | c.1487T>A (p.Val496Glu) | |
12 | g.5045634T>C | CA383466597 | KCNA5 | c.1487T>C (p.Val496Ala) | gnomAD v4 |
12 | g.5045634T>G | CA383466598 | KCNA5 | c.1487T>G (p.Val496Gly) | |
12 | g.5045635G>A | CA6399877 | KCNA5 | c.1488G>A (p.Val496=) | dbSNP ExAC gnomAD v4 |
12 | g.5045635G>C | CA478096056 | KCNA5 | c.1488G>C (p.Val496=) | |
12 | g.5045635G= | CA2013431312 | KCNA5 | c.1488G= (p.Val496=) | |
12 | g.5045635G>T | CA478096055 | KCNA5 | c.1488G>T (p.Val496=) | |
12 | g.5045636G>A | CA383466599 | KCNA5 | c.1489G>A (p.Gly497Ser) | |
12 | g.5045636G>C | CA383466600 | KCNA5 | c.1489G>C (p.Gly497Arg) | |
12 | g.5045636G>T | CA383466601 | KCNA5 | c.1489G>T (p.Gly497Cys) | |
12 | g.5045637G>A | CA383466602 | KCNA5 | c.1490G>A (p.Gly497Asp) | |
12 | g.5045637G>C | CA383466603 | KCNA5 | c.1490G>C (p.Gly497Ala) | |
12 | g.5045637G>T | CA383466604 | KCNA5 | c.1490G>T (p.Gly497Val) | |
12 | g.5045638C>A | CA478096061 | KCNA5 | c.1491C>A (p.Gly497=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045638C= | CA2013431313 | KCNA5 | c.1491C= (p.Gly497=) | |
12 | g.5045638C>G | CA478096062 | KCNA5 | c.1491C>G (p.Gly497=) | gnomAD v4 |
12 | g.5045638C>T | CA478096063 | KCNA5 | c.1491C>T (p.Gly497=) | |
12 | g.5045639T>A | CA383466605 | KCNA5 | c.1492T>A (p.Ser498Thr) | |
12 | g.5045639T>C | CA383466606 | KCNA5 | c.1492T>C (p.Ser498Pro) | |
12 | g.5045639T>G | CA383466607 | KCNA5 | c.1492T>G (p.Ser498Ala) | |
12 | g.5045640C>A | CA383466609 | KCNA5 | c.1493C>A (p.Ser498Ter) | |
12 | g.5045640C= | CA2013431314 | KCNA5 | c.1493C= (p.Ser498=) | |
12 | g.5045640C>G | CA383466608 | KCNA5 | c.1493C>G (p.Ser498Trp) | |
12 | g.5045640C>T | CA6399878 | KCNA5 | c.1493C>T (p.Ser498Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045641G>A | CA6399879 | KCNA5 | c.1494G>A (p.Ser498=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |