| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.74761731T>A | CA373683913 | TRPM6 | c.4750A>T (p.Lys1584Ter) c.4735A>T (p.Lys1579Ter) c.4657A>T (p.Lys1553Ter) c.4621A>T (p.Lys1541Ter) c.4609A>T (p.Lys1537Ter) c.4516A>T (p.Lys1506Ter) c.4474A>T (p.Lys1492Ter) c.4021A>T (p.Lys1341Ter) c.2683A>T (p.Lys895Ter) n.4988A>T c.4387A>T (p.Lys1463Ter) c.4240A>T (p.Lys1414Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.74761731T>C | CA5084035 | TRPM6 | c.4750A>G (p.Lys1584Glu) c.4735A>G (p.Lys1579Glu) c.4657A>G (p.Lys1553Glu) c.4621A>G (p.Lys1541Glu) c.4609A>G (p.Lys1537Glu) c.4516A>G (p.Lys1506Glu) c.4474A>G (p.Lys1492Glu) c.4021A>G (p.Lys1341Glu) c.2683A>G (p.Lys895Glu) n.4988A>G c.4387A>G (p.Lys1463Glu) c.4240A>G (p.Lys1414Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.74761731T= | CA1856028979 | TRPM6 | c.4750A= (p.Lys1584=) c.4735A= (p.Lys1579=) c.4657A= (p.Lys1553=) c.4621A= (p.Lys1541=) c.4609A= (p.Lys1537=) c.4516A= (p.Lys1506=) c.4474A= (p.Lys1492=) c.4021A= (p.Lys1341=) c.2683A= (p.Lys895=) n.4988A= c.4387A= (p.Lys1463=) c.4240A= (p.Lys1414=) | dbSNP |
| 9 | g.74761731T>G | CA373683915 | TRPM6 | c.4750A>C (p.Lys1584Gln) c.4735A>C (p.Lys1579Gln) c.4657A>C (p.Lys1553Gln) c.4621A>C (p.Lys1541Gln) c.4609A>C (p.Lys1537Gln) c.4516A>C (p.Lys1506Gln) c.4474A>C (p.Lys1492Gln) c.4021A>C (p.Lys1341Gln) c.2683A>C (p.Lys895Gln) n.4988A>C c.4387A>C (p.Lys1463Gln) c.4240A>C (p.Lys1414Gln) | dbSNP |