Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.28887236del | CA719730570 | ATP2A1 | c.592del (p.Arg198GlufsTer?) c.217del (p.Arg73GlufsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.28887236C>A | CA494501304 | ATP2A1 | c.592C>A (p.Arg198=) c.217C>A (p.Arg73=) | gnomAD v4 |
16 | g.28887236C= | CA2215886982 | ATP2A1 | c.592C= (p.Arg198=) c.217C= (p.Arg73=) | |
16 | g.28887236C>G | CA395402577 | ATP2A1 | c.592C>G (p.Arg198Gly) c.217C>G (p.Arg73Gly) | |
16 | g.28887236C>T | CA127434 | ATP2A1 | c.592C>T (p.Arg198Ter) c.217C>T (p.Arg73Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.28887237G>A | CA7986705 | ATP2A1 | c.593G>A (p.Arg198Gln) c.218G>A (p.Arg73Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28887237G>C | CA395402583 | ATP2A1 | c.593G>C (p.Arg198Pro) c.218G>C (p.Arg73Pro) | |
16 | g.28887237G= | CA2215886985 | ATP2A1 | c.593G= (p.Arg198=) c.218G= (p.Arg73=) | |
16 | g.28887237G>T | CA395402584 | ATP2A1 | c.593G>T (p.Arg198Leu) c.218G>T (p.Arg73Leu) | ClinVar |
16 | g.28887238A= | CA2215886988 | ATP2A1 | c.594A= (p.Arg198=) c.219A= (p.Arg73=) | |
16 | g.28887238A>C | CA494501338 | ATP2A1 | c.594A>C (p.Arg198=) c.219A>C (p.Arg73=) | dbSNP COSMIC |
16 | g.28887238A>G | CA494501340 | ATP2A1 | c.594A>G (p.Arg198=) c.219A>G (p.Arg73=) | |
16 | g.28887238A>T | CA494501346 | ATP2A1 | c.594A>T (p.Arg198=) c.219A>T (p.Arg73=) | |
16 | g.28887239G>A | CA395402588 | ATP2A1 | c.595G>A (p.Ala199Thr) c.220G>A (p.Ala74Thr) | gnomAD v4 |
16 | g.28887239G>C | CA395402590 | ATP2A1 | c.595G>C (p.Ala199Pro) c.220G>C (p.Ala74Pro) | |
16 | g.28887239G>T | CA395402592 | ATP2A1 | c.595G>T (p.Ala199Ser) c.220G>T (p.Ala74Ser) | |
16 | g.28887240C>A | CA395402595 | ATP2A1 | c.596C>A (p.Ala199Asp) c.221C>A (p.Ala74Asp) | |
16 | g.28887240C= | CA2215886992 | ATP2A1 | c.596C= (p.Ala199=) c.221C= (p.Ala74=) | |
16 | g.28887240C>G | CA395402598 | ATP2A1 | c.596C>G (p.Ala199Gly) c.221C>G (p.Ala74Gly) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28887240C>T | CA395402601 | ATP2A1 | c.596C>T (p.Ala199Val) c.221C>T (p.Ala74Val) | gnomAD v4 |
16 | g.28887241T>A | CA494501378 | ATP2A1 | c.597T>A (p.Ala199=) c.222T>A (p.Ala74=) | |
16 | g.28887241T>C | CA7986706 | ATP2A1 | c.597T>C (p.Ala199=) c.222T>C (p.Ala74=) | dbSNP ExAC gnomAD v2 |
16 | g.28887241T>G | CA494501376 | ATP2A1 | c.597T>G (p.Ala199=) c.222T>G (p.Ala74=) | |
16 | g.28887241T= | CA2215886996 | ATP2A1 | c.597T= (p.Ala199=) c.222T= (p.Ala74=) | |
16 | g.28887242G>A | CA395402608 | ATP2A1 | c.598G>A (p.Val200Ile) c.223G>A (p.Val75Ile) | gnomAD v4 |
16 | g.28887242G>C | CA395402611 | ATP2A1 | c.598G>C (p.Val200Leu) c.223G>C (p.Val75Leu) | |
16 | g.28887242G>T | CA395402605 | ATP2A1 | c.598G>T (p.Val200Phe) c.223G>T (p.Val75Phe) | |
16 | g.28887243T>A | CA395402615 | ATP2A1 | c.599T>A (p.Val200Asp) c.224T>A (p.Val75Asp) | |
16 | g.28887243T>C | CA279231970 | ATP2A1 | c.599T>C (p.Val200Ala) c.224T>C (p.Val75Ala) | dbSNP |
16 | g.28887243T>G | CA395402619 | ATP2A1 | c.599T>G (p.Val200Gly) c.224T>G (p.Val75Gly) | |
16 | g.28887243T= | CA2215886999 | ATP2A1 | c.599T= (p.Val200=) c.224T= (p.Val75=) | |
16 | g.28887244C>A | CA494501423 | ATP2A1 | c.600C>A (p.Val200=) c.225C>A (p.Val75=) | COSMIC |
16 | g.28887244C>G | CA494501416 | ATP2A1 | c.600C>G (p.Val200=) c.225C>G (p.Val75=) | |
16 | g.28887244C>T | CA494501420 | ATP2A1 | c.600C>T (p.Val200=) c.225C>T (p.Val75=) | |
16 | g.28887245A= | CA2215887004 | ATP2A1 | c.601A= (p.Asn201=) c.226A= (p.Asn76=) | |
16 | g.28887245A>C | CA395402622 | ATP2A1 | c.601A>C (p.Asn201His) c.226A>C (p.Asn76His) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28887245A>G | CA395402625 | ATP2A1 | c.601A>G (p.Asn201Asp) c.226A>G (p.Asn76Asp) | |
16 | g.28887245A>T | CA395402627 | ATP2A1 | c.601A>T (p.Asn201Tyr) c.226A>T (p.Asn76Tyr) | |
16 | g.28887246A>C | CA395402629 | ATP2A1 | c.602A>C (p.Asn201Thr) c.227A>C (p.Asn76Thr) | |
16 | g.28887246A>G | CA395402632 | ATP2A1 | c.602A>G (p.Asn201Ser) c.227A>G (p.Asn76Ser) | |
16 | g.28887246A>T | CA395402635 | ATP2A1 | c.602A>T (p.Asn201Ile) c.227A>T (p.Asn76Ile) | |
16 | g.28887247C>A | CA395402638 | ATP2A1 | c.603C>A (p.Asn201Lys) c.228C>A (p.Asn76Lys) | |
16 | g.28887247C= | CA2215887007 | ATP2A1 | c.603C= (p.Asn201=) c.228C= (p.Asn76=) | |
16 | g.28887247C>G | CA395402641 | ATP2A1 | c.603C>G (p.Asn201Lys) c.228C>G (p.Asn76Lys) | |
16 | g.28887247C>T | CA7986707 | ATP2A1 | c.603C>T (p.Asn201=) c.228C>T (p.Asn76=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28887248C>A | CA395402646 | ATP2A1 | c.604C>A (p.Gln202Lys) c.229C>A (p.Gln77Lys) | |
16 | g.28887248C>G | CA395402649 | ATP2A1 | c.604C>G (p.Gln202Glu) c.229C>G (p.Gln77Glu) | |
16 | g.28887248C>T | CA395402643 | ATP2A1 | c.604C>T (p.Gln202Ter) c.229C>T (p.Gln77Ter) | gnomAD v4 |
16 | g.28887249A>C | CA395402652 | ATP2A1 | c.605A>C (p.Gln202Pro) c.230A>C (p.Gln77Pro) | |
16 | g.28887249A>G | CA395402654 | ATP2A1 | c.605A>G (p.Gln202Arg) c.230A>G (p.Gln77Arg) |