Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.765341_765382delinsTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGG | CA2345350107 | SLC52A3 | c.393_434delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA (p.Ser131=) n.444_485delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA | |
20 | g.765343_765383del | CA9724784 | SLC52A3 | c.393_433del (p.Ser131ArgfsTer27) n.444_484del | dbSNP ExAC |
20 | g.765381G>A | CA339794 | SLC52A3 | c.394C>T (p.Arg132Trp) n.445C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765381G>C | CA407963924 | SLC52A3 | c.394C>G (p.Arg132Gly) n.445C>G | |
20 | g.765381G= | CA2345350123 | SLC52A3 | c.394C= (p.Arg132=) n.445C= | |
20 | g.765381G>T | CA509542805 | SLC52A3 | c.394C>A (p.Arg132=) n.445C>A | ClinVar dbSNP |
20 | g.765382del | CA2651547885 | SLC52A3 | c.394del (p.Arg132GlyfsTer?) n.445del | gnomAD v4 |
20 | g.765382G>A | CA509542808 | SLC52A3 | c.393C>T (p.Ser131=) n.444C>T | |
20 | g.765382G>C | CA407963925 | SLC52A3 | c.393C>G (p.Ser131Arg) n.444C>G | |
20 | g.765382G>T | CA407963926 | SLC52A3 | c.393C>A (p.Ser131Arg) n.444C>A | COSMIC |
20 | g.765383C>A | CA407963927 | SLC52A3 | c.392G>T (p.Ser131Ile) n.443G>T | |
20 | g.765383C>G | CA407963928 | SLC52A3 | c.392G>C (p.Ser131Thr) n.443G>C | |
20 | g.765383C>T | CA407963929 | SLC52A3 | c.392G>A (p.Ser131Asn) n.443G>A | gnomAD v4 |
20 | g.765384T>A | CA407963930 | SLC52A3 | c.391A>T (p.Ser131Cys) n.442A>T | |
20 | g.765384T>C | CA407963931 | SLC52A3 | c.391A>G (p.Ser131Gly) n.442A>G | |
20 | g.765384T>G | CA407963932 | SLC52A3 | c.391A>C (p.Ser131Arg) n.442A>C | |
20 | g.765385C>A | CA407963933 | SLC52A3 | c.390G>T (p.Met130Ile) n.441G>T | |
20 | g.765385C= | CA2345350124 | SLC52A3 | c.390G= (p.Met130=) n.441G= | |
20 | g.765385C>G | CA407963934 | SLC52A3 | c.390G>C (p.Met130Ile) n.441G>C | |
20 | g.765385C>T | CA407963935 | SLC52A3 | c.390G>A (p.Met130Ile) n.441G>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.765386A>C | CA407963936 | SLC52A3 | c.389T>G (p.Met130Arg) n.440T>G | |
20 | g.765386A>G | CA407963938 | SLC52A3 | c.389T>C (p.Met130Thr) n.440T>C | |
20 | g.765386A>T | CA407963937 | SLC52A3 | c.389T>A (p.Met130Lys) n.440T>A | |
20 | g.765387T>A | CA407963939 | SLC52A3 | c.388A>T (p.Met130Leu) n.439A>T | |
20 | g.765387T>C | CA407963940 | SLC52A3 | c.388A>G (p.Met130Val) n.439A>G | |
20 | g.765387T>G | CA407963941 | SLC52A3 | c.388A>C (p.Met130Leu) n.439A>C | |
20 | g.765388G>A | CA509542813 | SLC52A3 | c.387C>T (p.Phe129=) n.438C>T | COSMIC COSMIC |
20 | g.765388G>C | CA407963942 | SLC52A3 | c.387C>G (p.Phe129Leu) n.438C>G | |
20 | g.765388G>T | CA407963943 | SLC52A3 | c.387C>A (p.Phe129Leu) n.438C>A | |
20 | g.765389A>C | CA407963944 | SLC52A3 | c.386T>G (p.Phe129Cys) n.437T>G | |
20 | g.765389A>G | CA407963945 | SLC52A3 | c.386T>C (p.Phe129Ser) n.437T>C | |
20 | g.765389A>T | CA407963946 | SLC52A3 | c.386T>A (p.Phe129Tyr) n.437T>A | |
20 | g.765390A>C | CA407963947 | SLC52A3 | c.385T>G (p.Phe129Val) n.436T>G | |
20 | g.765390A>G | CA407963948 | SLC52A3 | c.385T>C (p.Phe129Leu) n.436T>C | |
20 | g.765390A>T | CA407963949 | SLC52A3 | c.385T>A (p.Phe129Ile) n.436T>A | |
20 | g.765391C>A | CA509542816 | SLC52A3 | c.384G>T (p.Pro128=) n.435G>T | gnomAD v4 |
20 | g.765391C= | CA2345350125 | SLC52A3 | c.384G= (p.Pro128=) n.435G= | |
20 | g.765391C>G | CA509542817 | SLC52A3 | c.384G>C (p.Pro128=) n.435G>C | |
20 | g.765391C>T | CA9724789 | SLC52A3 | c.384G>A (p.Pro128=) n.435G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765392G>A | CA310679172 | SLC52A3 | c.383C>T (p.Pro128Leu) n.434C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.765392G>C | CA407963950 | SLC52A3 | c.383C>G (p.Pro128Arg) n.434C>G | |
20 | g.765392G= | CA2345350126 | SLC52A3 | c.383C= (p.Pro128=) n.434C= | |
20 | g.765392G>T | CA407963951 | SLC52A3 | c.383C>A (p.Pro128Gln) n.434C>A | |
20 | g.765393G>A | CA407963952 | SLC52A3 | c.382C>T (p.Pro128Ser) n.433C>T | |
20 | g.765393G>C | CA407963953 | SLC52A3 | c.382C>G (p.Pro128Ala) n.433C>G | |
20 | g.765393G>T | CA407963954 | SLC52A3 | c.382C>A (p.Pro128Thr) n.433C>A | gnomAD v4 |
20 | g.765394C>A | CA509542819 | SLC52A3 | c.381G>T (p.Leu127=) n.432G>T | |
20 | g.765394C>G | CA509542820 | SLC52A3 | c.381G>C (p.Leu127=) n.432G>C | |
20 | g.765394C>T | CA509542822 | SLC52A3 | c.381G>A (p.Leu127=) n.432G>A | |
20 | g.765395A>C | CA407963955 | SLC52A3 | c.380T>G (p.Leu127Arg) n.431T>G |