Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.189571699G>A | CA1040450866 | SLC40A1 | c.514+16C>T (n.514+16C>T) c.394+16C>T (n.394+16C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.189571699G= | CA1315650287 | SLC40A1 | c.514+16C= (n.514+16C=) c.394+16C= (n.394+16C=) | |
2 | g.189571701G>A | CA2662329372 | SLC40A1 | c.514+14C>T (n.514+14C>T) c.394+14C>T (n.394+14C>T) | gnomAD v4 |
2 | g.189571707C>T | CA2577188116 | SLC40A1 | c.514+8G>A (n.514+8G>A) c.394+8G>A (n.394+8G>A) | |
2 | g.189571709A= | CA1315650292 | SLC40A1 | c.514+6T= (n.514+6T=) c.394+6T= (n.394+6T=) | |
2 | g.189571709A>G | CA538593463 | SLC40A1 | c.514+6T>C (n.514+6T>C) c.394+6T>C (n.394+6T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189571709A>T | CA2024220 | SLC40A1 | c.514+6T>A (n.514+6T>A) c.394+6T>A (n.394+6T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189571713A>C | CA349989035 | SLC40A1 | c.514+2T>G (n.514+2T>G) c.394+2T>G (n.394+2T>G) | |
2 | g.189571713A>G | CA349989036 | SLC40A1 | c.514+2T>C (n.514+2T>C) c.394+2T>C (n.394+2T>C) | |
2 | g.189571713A>T | CA349989037 | SLC40A1 | c.514+2T>A (n.514+2T>A) c.394+2T>A (n.394+2T>A) | |
2 | g.189571714C>A | CA349989038 | SLC40A1 | c.514+1G>T (n.514+1G>T) c.394+1G>T (n.394+1G>T) | |
2 | g.189571714C>G | CA349989039 | SLC40A1 | c.514+1G>C (n.514+1G>C) c.394+1G>C (n.394+1G>C) | |
2 | g.189571714C>T | CA349989040 | SLC40A1 | c.514+1G>A (n.514+1G>A) c.394+1G>A (n.394+1G>A) | |
2 | g.189571715T>A | CA349989041 | SLC40A1 | c.514A>T (p.Asn172Tyr) c.394A>T (p.Asn132Tyr) | |
2 | g.189571715T>C | CA349989042 | SLC40A1 | c.514A>G (p.Asn172Asp) c.394A>G (p.Asn132Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189571715T>G | CA349989043 | SLC40A1 | c.514A>C (p.Asn172His) c.394A>C (p.Asn132His) | |
2 | g.189571715T= | CA1315650296 | SLC40A1 | c.514A= (p.Asn172=) c.394A= (p.Asn132=) | |
2 | g.189571716T>A | CA430367321 | SLC40A1 | c.513A>T (p.Ala171=) c.393A>T (p.Ala131=) | |
2 | g.189571716T>C | CA430367322 | SLC40A1 | c.513A>G (p.Ala171=) c.393A>G (p.Ala131=) | |
2 | g.189571716T>G | CA430367323 | SLC40A1 | c.513A>C (p.Ala171=) c.393A>C (p.Ala131=) | |
2 | g.189571717G>A | CA349989045 | SLC40A1 | c.512C>T (p.Ala171Val) c.392C>T (p.Ala131Val) | |
2 | g.189571717G>C | CA349989046 | SLC40A1 | c.512C>G (p.Ala171Gly) c.392C>G (p.Ala131Gly) | |
2 | g.189571717G>T | CA349989044 | SLC40A1 | c.512C>A (p.Ala171Glu) c.392C>A (p.Ala131Glu) | gnomAD v4 |
2 | g.189571718C>A | CA349989047 | SLC40A1 | c.511G>T (p.Ala171Ser) c.391G>T (p.Ala131Ser) | |
2 | g.189571718C>G | CA349989048 | SLC40A1 | c.511G>C (p.Ala171Pro) c.391G>C (p.Ala131Pro) | |
2 | g.189571718C>T | CA349989049 | SLC40A1 | c.511G>A (p.Ala171Thr) c.391G>A (p.Ala131Thr) | |
2 | g.189571719T>A | CA430367324 | SLC40A1 | c.510A>T (p.Leu170=) c.390A>T (p.Leu130=) | |
2 | g.189571719T>C | CA430367325 | SLC40A1 | c.510A>G (p.Leu170=) c.390A>G (p.Leu130=) | |
2 | g.189571719T>G | CA430367326 | SLC40A1 | c.510A>C (p.Leu170=) c.390A>C (p.Leu130=) | |
2 | g.189571720A>C | CA349989050 | SLC40A1 | c.509T>G (p.Leu170Arg) c.389T>G (p.Leu130Arg) | |
2 | g.189571720A>G | CA349989051 | SLC40A1 | c.509T>C (p.Leu170Pro) c.389T>C (p.Leu130Pro) | |
2 | g.189571720A>T | CA349989052 | SLC40A1 | c.509T>A (p.Leu170Gln) c.389T>A (p.Leu130Gln) | |
2 | g.189571721G>A | CA430367327 | SLC40A1 | c.508C>T (p.Leu170=) c.388C>T (p.Leu130=) | dbSNP gnomAD v4 |
2 | g.189571721G>C | CA349989053 | SLC40A1 | c.508C>G (p.Leu170Val) c.388C>G (p.Leu130Val) | |
2 | g.189571721G= | CA1315650299 | SLC40A1 | c.508C= (p.Leu170=) c.388C= (p.Leu130=) | |
2 | g.189571721G>T | CA349989054 | SLC40A1 | c.508C>A (p.Leu170Ile) c.388C>A (p.Leu130Ile) | |
2 | g.189571722T>A | CA349989055 | SLC40A1 | c.507A>T (p.Lys169Asn) c.387A>T (p.Lys129Asn) | |
2 | g.189571722T>C | CA430367328 | SLC40A1 | c.507A>G (p.Lys169=) c.387A>G (p.Lys129=) | dbSNP |
2 | g.189571722T>G | CA349989056 | SLC40A1 | c.507A>C (p.Lys169Asn) c.387A>C (p.Lys129Asn) | |
2 | g.189571722T= | CA1315650304 | SLC40A1 | c.507A= (p.Lys169=) c.387A= (p.Lys129=) | |
2 | g.189571723T>A | CA349989057 | SLC40A1 | c.506A>T (p.Lys169Ile) c.386A>T (p.Lys129Ile) | |
2 | g.189571723T>C | CA349989058 | SLC40A1 | c.506A>G (p.Lys169Arg) c.386A>G (p.Lys129Arg) | |
2 | g.189571723T>G | CA349989059 | SLC40A1 | c.506A>C (p.Lys169Thr) c.386A>C (p.Lys129Thr) | gnomAD v4 |
2 | g.189571724T>A | CA349989060 | SLC40A1 | c.505A>T (p.Lys169Ter) c.385A>T (p.Lys129Ter) | |
2 | g.189571724T>C | CA349989061 | SLC40A1 | c.505A>G (p.Lys169Glu) c.385A>G (p.Lys129Glu) | |
2 | g.189571724T>G | CA2024221 | SLC40A1 | c.505A>C (p.Lys169Gln) c.385A>C (p.Lys129Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189571724T= | CA1315650310 | SLC40A1 | c.505A= (p.Lys169=) c.385A= (p.Lys129=) | |
2 | g.189571725G>A | CA430367329 | SLC40A1 | c.504C>T (p.Ser168=) c.384C>T (p.Ser128=) | |
2 | g.189571725G>C | CA349989062 | SLC40A1 | c.504C>G (p.Ser168Arg) c.384C>G (p.Ser128Arg) | gnomAD v4 |
2 | g.189571725G>T | CA349989063 | SLC40A1 | c.504C>A (p.Ser168Arg) c.384C>A (p.Ser128Arg) |