| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56902409T>A | CA495613300 | SLC12A3 | c.2757T>A (p.Arg919=) c.2754T>A (p.Arg918=) c.2784T>A (p.Arg928=) c.2781T>A (p.Arg927=) n.188T>A | |
| 16 | g.56902409T>C | CA495613302 | SLC12A3 | c.2757T>C (p.Arg919=) c.2754T>C (p.Arg918=) c.2784T>C (p.Arg928=) c.2781T>C (p.Arg927=) n.188T>C | |
| 16 | g.56902409T>G | CA495613303 | SLC12A3 | c.2757T>G (p.Arg919=) c.2754T>G (p.Arg918=) c.2784T>G (p.Arg928=) c.2781T>G (p.Arg927=) n.188T>G | |
| 16 | g.56902410C>A | CA396001180 | SLC12A3 | c.2758C>A (p.Leu920Met) c.2755C>A (p.Leu919Met) c.2785C>A (p.Leu929Met) c.2782C>A (p.Leu928Met) n.189C>A | |
| 16 | g.56902410C>G | CA396001182 | SLC12A3 | c.2758C>G (p.Leu920Val) c.2755C>G (p.Leu919Val) c.2785C>G (p.Leu929Val) c.2782C>G (p.Leu928Val) n.189C>G | |
| 16 | g.56902410C>T | CA495613304 | SLC12A3 | c.2758C>T (p.Leu920=) c.2755C>T (p.Leu919=) c.2785C>T (p.Leu929=) c.2782C>T (p.Leu928=) n.189C>T | |
| 16 | g.56902411T>A | CA396001184 | SLC12A3 | c.2759T>A (p.Leu920Gln) c.2756T>A (p.Leu919Gln) c.2786T>A (p.Leu929Gln) c.2783T>A (p.Leu928Gln) n.190T>A | |
| 16 | g.56902411T>C | CA396001186 | SLC12A3 | c.2759T>C (p.Leu920Pro) c.2756T>C (p.Leu919Pro) c.2786T>C (p.Leu929Pro) c.2783T>C (p.Leu928Pro) n.190T>C | |
| 16 | g.56902411T>G | CA396001188 | SLC12A3 | c.2759T>G (p.Leu920Arg) c.2756T>G (p.Leu919Arg) c.2786T>G (p.Leu929Arg) c.2783T>G (p.Leu928Arg) n.190T>G | |
| 16 | g.56902412G>A | CA495613305 | SLC12A3 | c.2760G>A (p.Leu920=) c.2757G>A (p.Leu919=) c.2787G>A (p.Leu929=) c.2784G>A (p.Leu928=) n.191G>A | dbSNP gnomAD v4 |
| 16 | g.56902412G>C | CA495613306 | SLC12A3 | c.2760G>C (p.Leu920=) c.2757G>C (p.Leu919=) c.2787G>C (p.Leu929=) c.2784G>C (p.Leu928=) n.191G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56902412G= | CA2224364808 | SLC12A3 | c.2760G= (p.Leu920=) c.2757G= (p.Leu919=) c.2787G= (p.Leu929=) c.2784G= (p.Leu928=) n.191G= | |
| 16 | g.56902412G>T | CA495613307 | SLC12A3 | c.2760G>T (p.Leu920=) c.2757G>T (p.Leu919=) c.2787G>T (p.Leu929=) c.2784G>T (p.Leu928=) n.191G>T | |
| 16 | g.56902413A= | CA2224364809 | SLC12A3 | c.2761A= (p.Asn921=) c.2758A= (p.Asn920=) c.2788A= (p.Asn930=) c.2785A= (p.Asn929=) n.192A= | |
| 16 | g.56902413A>C | CA396001190 | SLC12A3 | c.2761A>C (p.Asn921His) c.2758A>C (p.Asn920His) c.2788A>C (p.Asn930His) c.2785A>C (p.Asn929His) n.192A>C | |
| 16 | g.56902413A>G | CA8070055 | SLC12A3 | c.2761A>G (p.Asn921Asp) c.2758A>G (p.Asn920Asp) c.2788A>G (p.Asn930Asp) c.2785A>G (p.Asn929Asp) n.192A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56902413A>T | CA396001193 | SLC12A3 | c.2761A>T (p.Asn921Tyr) c.2758A>T (p.Asn920Tyr) c.2788A>T (p.Asn930Tyr) c.2785A>T (p.Asn929Tyr) n.192A>T | |
| 16 | g.56902414dup | CA2633375579 | SLC12A3 | c.2762dup (p.Asn921LysfsTer2) c.2759dup (p.Asn920LysfsTer2) c.2789dup (p.Asn930LysfsTer2) c.2786dup (p.Asn929LysfsTer2) n.193dup | gnomAD v4 |
| 16 | g.56902414A>C | CA396001195 | SLC12A3 | c.2762A>C (p.Asn921Thr) c.2759A>C (p.Asn920Thr) c.2789A>C (p.Asn930Thr) c.2786A>C (p.Asn929Thr) n.193A>C | |
| 16 | g.56902414A>G | CA396001196 | SLC12A3 | c.2762A>G (p.Asn921Ser) c.2759A>G (p.Asn920Ser) c.2789A>G (p.Asn930Ser) c.2786A>G (p.Asn929Ser) n.193A>G | gnomAD v4 |
| 16 | g.56902414A>T | CA396001199 | SLC12A3 | c.2762A>T (p.Asn921Ile) c.2759A>T (p.Asn920Ile) c.2789A>T (p.Asn930Ile) c.2786A>T (p.Asn929Ile) n.193A>T | |
| 16 | g.56902415T>A | CA396001201 | SLC12A3 | c.2763T>A (p.Asn921Lys) c.2760T>A (p.Asn920Lys) c.2790T>A (p.Asn930Lys) c.2787T>A (p.Asn929Lys) n.194T>A | |
| 16 | g.56902415T>C | CA495613309 | SLC12A3 | c.2763T>C (p.Asn921=) c.2760T>C (p.Asn920=) c.2790T>C (p.Asn930=) c.2787T>C (p.Asn929=) n.194T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56902415T>G | CA396001203 | SLC12A3 | c.2763T>G (p.Asn921Lys) c.2760T>G (p.Asn920Lys) c.2790T>G (p.Asn930Lys) c.2787T>G (p.Asn929Lys) n.194T>G | |
| 16 | g.56902415T= | CA2224364810 | SLC12A3 | c.2763T= (p.Asn921=) c.2760T= (p.Asn920=) c.2790T= (p.Asn930=) c.2787T= (p.Asn929=) n.194T= | |
| 16 | g.56902415_56902416delinsTG | CA2224364811 | SLC12A3 | c.2763_2764delinsTG (p.Asn921=) c.2760_2761delinsTG (p.Asn920=) c.2790_2791delinsTG (p.Asn930=) c.2787_2788delinsTG (p.Asn929=) n.194_195delinsTG | |
| 16 | g.56902416del | CA2224364813 | SLC12A3 | c.2764del (p.Asp922MetfsTer?) c.2761del (p.Asp921MetfsTer?) c.2791del (p.Asp931MetfsTer?) c.2788del (p.Asp930MetfsTer?) n.195del | dbSNP |
| 16 | g.56902416G>A | CA281519716 | SLC12A3 | c.2764G>A (p.Asp922Asn) c.2761G>A (p.Asp921Asn) c.2791G>A (p.Asp931Asn) c.2788G>A (p.Asp930Asn) n.195G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.56902416G>C | CA396001207 | SLC12A3 | c.2764G>C (p.Asp922His) c.2761G>C (p.Asp921His) c.2791G>C (p.Asp931His) c.2788G>C (p.Asp930His) n.195G>C | |
| 16 | g.56902416G= | CA2224364812 | SLC12A3 | c.2764G= (p.Asp922=) c.2761G= (p.Asp921=) c.2791G= (p.Asp931=) c.2788G= (p.Asp930=) n.195G= | |
| 16 | g.56902416G>T | CA396001206 | SLC12A3 | c.2764G>T (p.Asp922Tyr) c.2761G>T (p.Asp921Tyr) c.2791G>T (p.Asp931Tyr) c.2788G>T (p.Asp930Tyr) n.195G>T | |
| 16 | g.56902417A>C | CA396001208 | SLC12A3 | c.2765A>C (p.Asp922Ala) c.2762A>C (p.Asp921Ala) c.2792A>C (p.Asp931Ala) c.2789A>C (p.Asp930Ala) n.196A>C | ClinVar |
| 16 | g.56902417A>G | CA396001209 | SLC12A3 | c.2765A>G (p.Asp922Gly) c.2762A>G (p.Asp921Gly) c.2792A>G (p.Asp931Gly) c.2789A>G (p.Asp930Gly) n.196A>G | |
| 16 | g.56902417A>T | CA396001212 | SLC12A3 | c.2765A>T (p.Asp922Val) c.2762A>T (p.Asp921Val) c.2792A>T (p.Asp931Val) c.2789A>T (p.Asp930Val) n.196A>T | |
| 16 | g.56902418T>A | CA396001214 | SLC12A3 | c.2766T>A (p.Asp922Glu) c.2763T>A (p.Asp921Glu) c.2793T>A (p.Asp931Glu) c.2790T>A (p.Asp930Glu) n.197T>A | |
| 16 | g.56902418T>C | CA8070056 | SLC12A3 | c.2766T>C (p.Asp922=) c.2763T>C (p.Asp921=) c.2793T>C (p.Asp931=) c.2790T>C (p.Asp930=) n.197T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56902418T>G | CA396001217 | SLC12A3 | c.2766T>G (p.Asp922Glu) c.2763T>G (p.Asp921Glu) c.2793T>G (p.Asp931Glu) c.2790T>G (p.Asp930Glu) n.197T>G | |
| 16 | g.56902418T= | CA2224364814 | SLC12A3 | c.2766T= (p.Asp922=) c.2763T= (p.Asp921=) c.2793T= (p.Asp931=) c.2790T= (p.Asp930=) n.197T= | |
| 16 | g.56902419G>A | CA396001218 | SLC12A3 | c.2767G>A (p.Gly923Ser) c.2764G>A (p.Gly922Ser) c.2794G>A (p.Gly932Ser) c.2791G>A (p.Gly931Ser) n.198G>A | |
| 16 | g.56902419G>C | CA396001220 | SLC12A3 | c.2767G>C (p.Gly923Arg) c.2764G>C (p.Gly922Arg) c.2794G>C (p.Gly932Arg) c.2791G>C (p.Gly931Arg) n.198G>C | |
| 16 | g.56902419G>T | CA396001222 | SLC12A3 | c.2767G>T (p.Gly923Cys) c.2764G>T (p.Gly922Cys) c.2794G>T (p.Gly932Cys) c.2791G>T (p.Gly931Cys) n.198G>T | |
| 16 | g.56902420G>A | CA396001227 | SLC12A3 | c.2768G>A (p.Gly923Asp) c.2765G>A (p.Gly922Asp) c.2795G>A (p.Gly932Asp) c.2792G>A (p.Gly931Asp) n.199G>A | |
| 16 | g.56902420G>C | CA396001225 | SLC12A3 | c.2768G>C (p.Gly923Ala) c.2765G>C (p.Gly922Ala) c.2795G>C (p.Gly932Ala) c.2792G>C (p.Gly931Ala) n.199G>C | |
| 16 | g.56902420G>T | CA396001224 | SLC12A3 | c.2768G>T (p.Gly923Val) c.2765G>T (p.Gly922Val) c.2795G>T (p.Gly932Val) c.2792G>T (p.Gly931Val) n.199G>T | COSMIC |
| 16 | g.56902421C>A | CA495613313 | SLC12A3 | c.2769C>A (p.Gly923=) c.2766C>A (p.Gly922=) c.2796C>A (p.Gly932=) c.2793C>A (p.Gly931=) n.200C>A | |
| 16 | g.56902421C>G | CA495613314 | SLC12A3 | c.2769C>G (p.Gly923=) c.2766C>G (p.Gly922=) c.2796C>G (p.Gly932=) c.2793C>G (p.Gly931=) n.200C>G | |
| 16 | g.56902421C>T | CA495613315 | SLC12A3 | c.2769C>T (p.Gly923=) c.2766C>T (p.Gly922=) c.2796C>T (p.Gly932=) c.2793C>T (p.Gly931=) n.200C>T | |
| 16 | g.56902422T>A | CA396001230 | SLC12A3 | c.2770T>A (p.Phe924Ile) c.2767T>A (p.Phe923Ile) c.2797T>A (p.Phe933Ile) c.2794T>A (p.Phe932Ile) n.201T>A | |
| 16 | g.56902422T>C | CA396001231 | SLC12A3 | c.2770T>C (p.Phe924Leu) c.2767T>C (p.Phe923Leu) c.2797T>C (p.Phe933Leu) c.2794T>C (p.Phe932Leu) n.201T>C | |
| 16 | g.56902422T>G | CA8070057 | SLC12A3 | c.2770T>G (p.Phe924Val) c.2767T>G (p.Phe923Val) c.2797T>G (p.Phe933Val) c.2794T>G (p.Phe932Val) n.201T>G | dbSNP ExAC gnomAD v2 |