Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.765581C>A | CA407964350 | SLC52A3 | c.194G>T (p.Arg65Leu) n.245G>T | gnomAD v4 |
20 | g.765581C= | CA2345350204 | SLC52A3 | c.194G= (p.Arg65=) n.245G= | |
20 | g.765581C>G | CA407964351 | SLC52A3 | c.194G>C (p.Arg65Pro) n.245G>C | gnomAD v4 |
20 | g.765581C>T | CA9724820 | SLC52A3 | c.194G>A (p.Arg65Gln) n.245G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765582G>A | CA9724821 | SLC52A3 | c.193C>T (p.Arg65Trp) n.244C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765582G>C | CA407964352 | SLC52A3 | c.193C>G (p.Arg65Gly) n.244C>G | |
20 | g.765582G= | CA2345350205 | SLC52A3 | c.193C= (p.Arg65=) n.244C= | |
20 | g.765582G>T | CA509542770 | SLC52A3 | c.193C>A (p.Arg65=) n.244C>A | gnomAD v4 |
20 | g.765583G>A | CA509542772 | SLC52A3 | c.192C>T (p.Phe64=) n.243C>T | gnomAD v4 |
20 | g.765583G>C | CA407964353 | SLC52A3 | c.192C>G (p.Phe64Leu) n.243C>G | |
20 | g.765583G>T | CA407964354 | SLC52A3 | c.192C>A (p.Phe64Leu) n.243C>A | gnomAD v4 |
20 | g.765584A>C | CA407964355 | SLC52A3 | c.191T>G (p.Phe64Cys) n.242T>G | |
20 | g.765584A>G | CA407964356 | SLC52A3 | c.191T>C (p.Phe64Ser) n.242T>C | |
20 | g.765584A>T | CA407964357 | SLC52A3 | c.191T>A (p.Phe64Tyr) n.242T>A | |
20 | g.765585A>C | CA407964358 | SLC52A3 | c.190T>G (p.Phe64Val) n.241T>G | |
20 | g.765585A>G | CA407964359 | SLC52A3 | c.190T>C (p.Phe64Leu) n.241T>C | |
20 | g.765585A>T | CA407964360 | SLC52A3 | c.190T>A (p.Phe64Ile) n.241T>A | |
20 | g.765586G>A | CA310679317 | SLC52A3 | c.189C>T (p.His63=) n.240C>T | dbSNP |
20 | g.765586G>C | CA407964361 | SLC52A3 | c.189C>G (p.His63Gln) n.240C>G | |
20 | g.765586G= | CA2345350206 | SLC52A3 | c.189C= (p.His63=) n.240C= | |
20 | g.765586G>T | CA407964362 | SLC52A3 | c.189C>A (p.His63Gln) n.240C>A | gnomAD v4 |
20 | g.765587T>A | CA407964363 | SLC52A3 | c.188A>T (p.His63Leu) n.239A>T | |
20 | g.765587T>C | CA407964364 | SLC52A3 | c.188A>G (p.His63Arg) n.239A>G | dbSNP |
20 | g.765587T>G | CA407964365 | SLC52A3 | c.188A>C (p.His63Pro) n.239A>C | |
20 | g.765588G>A | CA407964366 | SLC52A3 | c.187C>T (p.His63Tyr) n.238C>T | dbSNP |
20 | g.765588G>C | CA407964368 | SLC52A3 | c.187C>G (p.His63Asp) n.238C>G | |
20 | g.765588G= | CA2345350207 | SLC52A3 | c.187C= (p.His63=) n.238C= | |
20 | g.765588G>T | CA407964367 | SLC52A3 | c.187C>A (p.His63Asn) n.238C>A | gnomAD v4 |
20 | g.765589A>C | CA407964369 | SLC52A3 | c.186T>G (p.His62Gln) n.237T>G | |
20 | g.765589A>G | CA509542774 | SLC52A3 | c.186T>C (p.His62=) n.237T>C | gnomAD v4 |
20 | g.765589A>T | CA407964370 | SLC52A3 | c.186T>A (p.His62Gln) n.237T>A | |
20 | g.765590T>A | CA407964371 | SLC52A3 | c.185A>T (p.His62Leu) n.236A>T | |
20 | g.765590T>C | CA407964372 | SLC52A3 | c.185A>G (p.His62Arg) n.236A>G | gnomAD v4 |
20 | g.765590T>G | CA407964373 | SLC52A3 | c.185A>C (p.His62Pro) n.236A>C | |
20 | g.765591G>A | CA407964374 | SLC52A3 | c.184C>T (p.His62Tyr) n.235C>T | dbSNP gnomAD v2 gnomAD v4 |
20 | g.765591G>C | CA407964375 | SLC52A3 | c.184C>G (p.His62Asp) n.235C>G | |
20 | g.765591G= | CA2345350208 | SLC52A3 | c.184C= (p.His62=) n.235C= | |
20 | g.765591G>T | CA407964376 | SLC52A3 | c.184C>A (p.His62Asn) n.235C>A | |
20 | g.765592G>A | CA509542775 | SLC52A3 | c.183C>T (p.Leu61=) n.234C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.765592G>C | CA509542776 | SLC52A3 | c.183C>G (p.Leu61=) n.234C>G | |
20 | g.765592G= | CA2345350209 | SLC52A3 | c.183C= (p.Leu61=) n.234C= | |
20 | g.765592G>T | CA509542777 | SLC52A3 | c.183C>A (p.Leu61=) n.234C>A | |
20 | g.765593del | CA2651547892 | SLC52A3 | c.182del (p.Leu61ProfsTer?) n.233del | gnomAD v4 |
20 | g.765593A>C | CA407964377 | SLC52A3 | c.182T>G (p.Leu61Arg) n.233T>G | |
20 | g.765593A>G | CA407964378 | SLC52A3 | c.182T>C (p.Leu61Pro) n.233T>C | |
20 | g.765593A>T | CA407964379 | SLC52A3 | c.182T>A (p.Leu61His) n.233T>A | |
20 | g.765594G>A | CA407964381 | SLC52A3 | c.181C>T (p.Leu61Phe) n.232C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.765594G>C | CA407964380 | SLC52A3 | c.181C>G (p.Leu61Val) n.232C>G | gnomAD v4 |
20 | g.765594G= | CA2345350210 | SLC52A3 | c.181C= (p.Leu61=) n.232C= | |
20 | g.765594G>T | CA310679318 | SLC52A3 | c.181C>A (p.Leu61Ile) n.232C>A | dbSNP gnomAD v4 |