Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.765474C>A | CA407964126 | SLC52A3 | c.301G>T (p.Asp101Tyr) n.352G>T | |
20 | g.765474C>G | CA407964127 | SLC52A3 | c.301G>C (p.Asp101His) n.352G>C | |
20 | g.765474C>T | CA407964125 | SLC52A3 | c.301G>A (p.Asp101Asn) n.352G>A | |
20 | g.765475C>A | CA509542622 | SLC52A3 | c.300G>T (p.Leu100=) n.351G>T | |
20 | g.765475C>G | CA509542623 | SLC52A3 | c.300G>C (p.Leu100=) n.351G>C | |
20 | g.765475C>T | CA509542624 | SLC52A3 | c.300G>A (p.Leu100=) n.351G>A | gnomAD v4 |
20 | g.765476A>C | CA407964128 | SLC52A3 | c.299T>G (p.Leu100Arg) n.350T>G | |
20 | g.765476A>G | CA407964129 | SLC52A3 | c.299T>C (p.Leu100Pro) n.350T>C | |
20 | g.765476A>T | CA407964130 | SLC52A3 | c.299T>A (p.Leu100Gln) n.350T>A | |
20 | g.765477G>A | CA509542626 | SLC52A3 | c.298C>T (p.Leu100=) n.349C>T | |
20 | g.765477G>C | CA407964131 | SLC52A3 | c.298C>G (p.Leu100Val) n.349C>G | gnomAD v4 |
20 | g.765477G= | CA2345350159 | SLC52A3 | c.298C= (p.Leu100=) n.349C= | |
20 | g.765477G>T | CA407964132 | SLC52A3 | c.298C>A (p.Leu100Met) n.349C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765478C>A | CA509542629 | SLC52A3 | c.297G>T (p.Val99=) n.348G>T | |
20 | g.765478C= | CA2345350160 | SLC52A3 | c.297G= (p.Val99=) n.348G= | |
20 | g.765478C>G | CA509542627 | SLC52A3 | c.297G>C (p.Val99=) n.348G>C | |
20 | g.765478C>T | CA509542628 | SLC52A3 | c.297G>A (p.Val99=) n.348G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765479A>C | CA407964133 | SLC52A3 | c.296T>G (p.Val99Gly) n.347T>G | |
20 | g.765479A>G | CA407964134 | SLC52A3 | c.296T>C (p.Val99Ala) n.347T>C | |
20 | g.765479A>T | CA407964135 | SLC52A3 | c.296T>A (p.Val99Glu) n.347T>A | |
20 | g.765480C>A | CA407964136 | SLC52A3 | c.295G>T (p.Val99Leu) n.346G>T | |
20 | g.765480C>G | CA407964137 | SLC52A3 | c.295G>C (p.Val99Leu) n.346G>C | |
20 | g.765480C>T | CA407964138 | SLC52A3 | c.295G>A (p.Val99Met) n.346G>A | gnomAD v4 |
20 | g.765481C>A | CA407964139 | SLC52A3 | c.294G>T (p.Trp98Cys) n.345G>T | gnomAD v4 |
20 | g.765481C= | CA2345350161 | SLC52A3 | c.294G= (p.Trp98=) n.345G= | |
20 | g.765481C>G | CA9724804 | SLC52A3 | c.294G>C (p.Trp98Cys) n.345G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.765481C>T | CA9724805 | SLC52A3 | c.294G>A (p.Trp98Ter) n.345G>A | dbSNP ExAC |
20 | g.765482C>A | CA407964140 | SLC52A3 | c.293G>T (p.Trp98Leu) n.344G>T | dbSNP gnomAD v2 gnomAD v4 |
20 | g.765482C= | CA2345350162 | SLC52A3 | c.293G= (p.Trp98=) n.344G= | |
20 | g.765482C>G | CA407964141 | SLC52A3 | c.293G>C (p.Trp98Ser) n.344G>C | |
20 | g.765482C>T | CA407964142 | SLC52A3 | c.293G>A (p.Trp98Ter) n.344G>A | ClinVar gnomAD v4 |
20 | g.765483A>C | CA407964143 | SLC52A3 | c.292T>G (p.Trp98Gly) n.343T>G | |
20 | g.765483A>G | CA407964144 | SLC52A3 | c.292T>C (p.Trp98Arg) n.343T>C | |
20 | g.765483A>T | CA407964145 | SLC52A3 | c.292T>A (p.Trp98Arg) n.343T>A | |
20 | g.765484G>A | CA509542635 | SLC52A3 | c.291C>T (p.Ser97=) n.342C>T | |
20 | g.765484G>C | CA9724806 | SLC52A3 | c.291C>G (p.Ser97=) n.342C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.765484G= | CA2345350163 | SLC52A3 | c.291C= (p.Ser97=) n.342C= | |
20 | g.765484G>T | CA509542636 | SLC52A3 | c.291C>A (p.Ser97=) n.342C>A | gnomAD v4 |
20 | g.765485G>A | CA407964146 | SLC52A3 | c.290C>T (p.Ser97Phe) n.341C>T | dbSNP gnomAD v4 |
20 | g.765485G>C | CA407964147 | SLC52A3 | c.290C>G (p.Ser97Cys) n.341C>G | |
20 | g.765485G= | CA2345350164 | SLC52A3 | c.290C= (p.Ser97=) n.341C= | |
20 | g.765485G>T | CA407964148 | SLC52A3 | c.290C>A (p.Ser97Tyr) n.341C>A | |
20 | g.765486A>C | CA407964149 | SLC52A3 | c.289T>G (p.Ser97Ala) n.340T>G | |
20 | g.765486A>G | CA407964150 | SLC52A3 | c.289T>C (p.Ser97Pro) n.340T>C | |
20 | g.765486A>T | CA407964151 | SLC52A3 | c.289T>A (p.Ser97Thr) n.340T>A | |
20 | g.765486_765487insC | CA2651547889 | SLC52A3 | c.288_289insG (p.Ser97ValfsTer?) n.339_340insG | gnomAD v4 |
20 | g.765487G>A | CA9724807 | SLC52A3 | c.288C>T (p.Thr96=) n.339C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765487G>C | CA509542637 | SLC52A3 | c.288C>G (p.Thr96=) n.339C>G | |
20 | g.765487G= | CA2345350165 | SLC52A3 | c.288C= (p.Thr96=) n.339C= | |
20 | g.765487G>T | CA509542638 | SLC52A3 | c.288C>A (p.Thr96=) n.339C>A |