Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.765613C>A | CA9724823 | SLC52A3 | c.162G>T (p.Gly54=) n.213G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.765613C= | CA2345350220 | SLC52A3 | c.162G= (p.Gly54=) n.213G= | |
20 | g.765613C>G | CA509542814 | SLC52A3 | c.162G>C (p.Gly54=) n.213G>C | |
20 | g.765613C>T | CA509542815 | SLC52A3 | c.162G>A (p.Gly54=) n.213G>A | ClinVar gnomAD v4 |
20 | g.765614C>A | CA407964411 | SLC52A3 | c.161G>T (p.Gly54Val) n.212G>T | |
20 | g.765614C>G | CA407964412 | SLC52A3 | c.161G>C (p.Gly54Ala) n.212G>C | |
20 | g.765614C>T | CA407964413 | SLC52A3 | c.161G>A (p.Gly54Glu) n.212G>A | |
20 | g.765615C>A | CA407964414 | SLC52A3 | c.160G>T (p.Gly54Trp) n.211G>T | gnomAD v4 |
20 | g.765615C= | CA2345350221 | SLC52A3 | c.160G= (p.Gly54=) n.211G= | |
20 | g.765615C>G | CA407964415 | SLC52A3 | c.160G>C (p.Gly54Arg) n.211G>C | |
20 | g.765615C>T | CA346971 | SLC52A3 | c.160G>A (p.Gly54Arg) n.211G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765616G>A | CA9724824 | SLC52A3 | c.159C>T (p.Ile53=) n.210C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765616G>C | CA407964416 | SLC52A3 | c.159C>G (p.Ile53Met) n.210C>G | gnomAD v4 |
20 | g.765616G= | CA2345350222 | SLC52A3 | c.159C= (p.Ile53=) n.210C= | |
20 | g.765616G>T | CA509542818 | SLC52A3 | c.159C>A (p.Ile53=) n.210C>A | |
20 | g.765620_765634del | CA2651547893 | SLC52A3 | c.145_159del (p.Gln49_Ile53del) n.196_210del | gnomAD v4 |
20 | g.765617A>C | CA407964419 | SLC52A3 | c.158T>G (p.Ile53Ser) n.209T>G | |
20 | g.765617A>G | CA407964418 | SLC52A3 | c.158T>C (p.Ile53Thr) n.209T>C | |
20 | g.765617A>T | CA407964417 | SLC52A3 | c.158T>A (p.Ile53Asn) n.209T>A | |
20 | g.765618T>A | CA407964420 | SLC52A3 | c.157A>T (p.Ile53Phe) n.208A>T | gnomAD v4 |
20 | g.765618T>C | CA310679387 | SLC52A3 | c.157A>G (p.Ile53Val) n.208A>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.765618T>G | CA407964421 | SLC52A3 | c.157A>C (p.Ile53Leu) n.208A>C | gnomAD v4 |
20 | g.765618T= | CA2345350223 | SLC52A3 | c.157A= (p.Ile53=) n.208A= | |
20 | g.765619G>A | CA509542821 | SLC52A3 | c.156C>T (p.Asn52=) n.207C>T | |
20 | g.765619G>C | CA407964422 | SLC52A3 | c.156C>G (p.Asn52Lys) n.207C>G | |
20 | g.765619G>T | CA407964423 | SLC52A3 | c.156C>A (p.Asn52Lys) n.207C>A | |
20 | g.765620T>A | CA407964426 | SLC52A3 | c.155A>T (p.Asn52Ile) n.206A>T | |
20 | g.765620T>C | CA407964425 | SLC52A3 | c.155A>G (p.Asn52Ser) n.206A>G | |
20 | g.765620T>G | CA407964424 | SLC52A3 | c.155A>C (p.Asn52Thr) n.206A>C | |
20 | g.765621T>A | CA407964427 | SLC52A3 | c.154A>T (p.Asn52Tyr) n.205A>T | |
20 | g.765621T>C | CA407964428 | SLC52A3 | c.154A>G (p.Asn52Asp) n.205A>G | |
20 | g.765621T>G | CA407964429 | SLC52A3 | c.154A>C (p.Asn52His) n.205A>C | |
20 | g.765622G>A | CA509542825 | SLC52A3 | c.153C>T (p.Ala51=) n.204C>T | |
20 | g.765622G>C | CA509542826 | SLC52A3 | c.153C>G (p.Ala51=) n.204C>G | |
20 | g.765622G>T | CA509542827 | SLC52A3 | c.153C>A (p.Ala51=) n.204C>A | |
20 | g.765623G>A | CA407964430 | SLC52A3 | c.152C>T (p.Ala51Val) n.203C>T | |
20 | g.765623G>C | CA407964431 | SLC52A3 | c.152C>G (p.Ala51Gly) n.203C>G | |
20 | g.765623G>T | CA407964432 | SLC52A3 | c.152C>A (p.Ala51Asp) n.203C>A | |
20 | g.765624C>A | CA407964433 | SLC52A3 | c.151G>T (p.Ala51Ser) n.202G>T | |
20 | g.765624C>G | CA407964435 | SLC52A3 | c.151G>C (p.Ala51Pro) n.202G>C | |
20 | g.765624C>T | CA407964434 | SLC52A3 | c.151G>A (p.Ala51Thr) n.202G>A | ClinVar dbSNP gnomAD v4 |
20 | g.765625C>A | CA509542830 | SLC52A3 | c.150G>T (p.Leu50=) n.201G>T | |
20 | g.765625C= | CA2345350224 | SLC52A3 | c.150G= (p.Leu50=) n.201G= | |
20 | g.765625C>G | CA509542832 | SLC52A3 | c.150G>C (p.Leu50=) n.201G>C | gnomAD v4 |
20 | g.765625C>T | CA509542831 | SLC52A3 | c.150G>A (p.Leu50=) n.201G>A | dbSNP gnomAD v4 |
20 | g.765626A>C | CA407964436 | SLC52A3 | c.149T>G (p.Leu50Arg) n.200T>G | |
20 | g.765626A>G | CA407964437 | SLC52A3 | c.149T>C (p.Leu50Pro) n.200T>C | |
20 | g.765626A>T | CA407964438 | SLC52A3 | c.149T>A (p.Leu50Gln) n.200T>A | |
20 | g.765627G>A | CA509542833 | SLC52A3 | c.148C>T (p.Leu50=) n.199C>T | gnomAD v4 |
20 | g.765627G>C | CA407964439 | SLC52A3 | c.148C>G (p.Leu50Val) n.199C>G |