WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.3228852T>A | CA509558150 | SLC4A11 | c.2178A>T (p.Gly726=) c.2109A>T (p.Gly703=) c.2049A>T (p.Gly683=) c.2064A>T (p.Gly688=) c.2226A>T (p.Gly742=) c.2307A>T (p.Gly769=) c.*326A>T (n.*326A>T) c.2547A>T (p.Gly849=) c.2121A>T (p.Gly707=) c.2145A>T (p.Gly715=) n.2276A>T c.2541A>T (p.Gly847=) n.2721A>T n.2701A>T c.2193A>T (p.Gly731=) n.2686A>T | |
| 20 | g.3228852T>C | CA509558153 | SLC4A11 | c.2178A>G (p.Gly726=) c.2109A>G (p.Gly703=) c.2049A>G (p.Gly683=) c.2064A>G (p.Gly688=) c.2226A>G (p.Gly742=) c.2307A>G (p.Gly769=) c.*326A>G (n.*326A>G) c.2547A>G (p.Gly849=) c.2121A>G (p.Gly707=) c.2145A>G (p.Gly715=) n.2276A>G c.2541A>G (p.Gly847=) n.2721A>G n.2701A>G c.2193A>G (p.Gly731=) n.2686A>G | |
| 20 | g.3228852T>G | CA509558152 | SLC4A11 | c.2178A>C (p.Gly726=) c.2109A>C (p.Gly703=) c.2049A>C (p.Gly683=) c.2064A>C (p.Gly688=) c.2226A>C (p.Gly742=) c.2307A>C (p.Gly769=) c.*326A>C (n.*326A>C) c.2547A>C (p.Gly849=) c.2121A>C (p.Gly707=) c.2145A>C (p.Gly715=) n.2276A>C c.2541A>C (p.Gly847=) n.2721A>C n.2701A>C c.2193A>C (p.Gly731=) n.2686A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.3228852T= | CA2346475203 | SLC4A11 | c.2178A= (p.Gly726=) c.2109A= (p.Gly703=) c.2049A= (p.Gly683=) c.2064A= (p.Gly688=) c.2226A= (p.Gly742=) c.2307A= (p.Gly769=) c.*326A= (n.*326A=) c.2547A= (p.Gly849=) c.2121A= (p.Gly707=) c.2145A= (p.Gly715=) n.2276A= c.2541A= (p.Gly847=) n.2721A= n.2701A= c.2193A= (p.Gly731=) n.2686A= | |
| 20 | g.3228853C>A | CA408086720 | SLC4A11 | c.2177G>T (p.Gly726Val) c.2108G>T (p.Gly703Val) c.2048G>T (p.Gly683Val) c.2063G>T (p.Gly688Val) c.2225G>T (p.Gly742Val) c.2306G>T (p.Gly769Val) c.*325G>T (n.*325G>T) c.2546G>T (p.Gly849Val) c.2120G>T (p.Gly707Val) c.2144G>T (p.Gly715Val) n.2275G>T c.2540G>T (p.Gly847Val) n.2720G>T n.2700G>T c.2192G>T (p.Gly731Val) n.2685G>T | |
| 20 | g.3228853C= | CA2346475204 | SLC4A11 | c.2177G= (p.Gly726=) c.2108G= (p.Gly703=) c.2048G= (p.Gly683=) c.2063G= (p.Gly688=) c.2225G= (p.Gly742=) c.2306G= (p.Gly769=) c.*325G= (n.*325G=) c.2546G= (p.Gly849=) c.2120G= (p.Gly707=) c.2144G= (p.Gly715=) n.2275G= c.2540G= (p.Gly847=) n.2720G= n.2700G= c.2192G= (p.Gly731=) n.2685G= | |
| 20 | g.3228853C>G | CA408086722 | SLC4A11 | c.2177G>C (p.Gly726Ala) c.2108G>C (p.Gly703Ala) c.2048G>C (p.Gly683Ala) c.2063G>C (p.Gly688Ala) c.2225G>C (p.Gly742Ala) c.2306G>C (p.Gly769Ala) c.*325G>C (n.*325G>C) c.2546G>C (p.Gly849Ala) c.2120G>C (p.Gly707Ala) c.2144G>C (p.Gly715Ala) n.2275G>C c.2540G>C (p.Gly847Ala) n.2720G>C n.2700G>C c.2192G>C (p.Gly731Ala) n.2685G>C | |
| 20 | g.3228853C>T | CA9741567 | SLC4A11 | c.2177G>A (p.Gly726Glu) c.2108G>A (p.Gly703Glu) c.2048G>A (p.Gly683Glu) c.2063G>A (p.Gly688Glu) c.2225G>A (p.Gly742Glu) c.2306G>A (p.Gly769Glu) c.*325G>A (n.*325G>A) c.2546G>A (p.Gly849Glu) c.2120G>A (p.Gly707Glu) c.2144G>A (p.Gly715Glu) n.2275G>A c.2540G>A (p.Gly847Glu) n.2720G>A n.2700G>A c.2192G>A (p.Gly731Glu) n.2685G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.3228854C>A | CA408086726 | SLC4A11 | c.2176G>T (p.Gly726Ter) c.2107G>T (p.Gly703Ter) c.2047G>T (p.Gly683Ter) c.2062G>T (p.Gly688Ter) c.2224G>T (p.Gly742Ter) c.2305G>T (p.Gly769Ter) c.*324G>T (n.*324G>T) c.2545G>T (p.Gly849Ter) c.2119G>T (p.Gly707Ter) c.2143G>T (p.Gly715Ter) n.2274G>T c.2539G>T (p.Gly847Ter) n.2719G>T n.2699G>T c.2191G>T (p.Gly731Ter) n.2684G>T | |
| 20 | g.3228854C= | CA2346475205 | SLC4A11 | c.2176G= (p.Gly726=) c.2107G= (p.Gly703=) c.2047G= (p.Gly683=) c.2062G= (p.Gly688=) c.2224G= (p.Gly742=) c.2305G= (p.Gly769=) c.*324G= (n.*324G=) c.2545G= (p.Gly849=) c.2119G= (p.Gly707=) c.2143G= (p.Gly715=) n.2274G= c.2539G= (p.Gly847=) n.2719G= n.2699G= c.2191G= (p.Gly731=) n.2684G= | |
| 20 | g.3228854C>G | CA408086728 | SLC4A11 | c.2176G>C (p.Gly726Arg) c.2107G>C (p.Gly703Arg) c.2047G>C (p.Gly683Arg) c.2062G>C (p.Gly688Arg) c.2224G>C (p.Gly742Arg) c.2305G>C (p.Gly769Arg) c.*324G>C (n.*324G>C) c.2545G>C (p.Gly849Arg) c.2119G>C (p.Gly707Arg) c.2143G>C (p.Gly715Arg) n.2274G>C c.2539G>C (p.Gly847Arg) n.2719G>C n.2699G>C c.2191G>C (p.Gly731Arg) n.2684G>C | |
| 20 | g.3228854C>T | CA9741568 | SLC4A11 | c.2176G>A (p.Gly726Arg) c.2107G>A (p.Gly703Arg) c.2047G>A (p.Gly683Arg) c.2062G>A (p.Gly688Arg) c.2224G>A (p.Gly742Arg) c.2305G>A (p.Gly769Arg) c.*324G>A (n.*324G>A) c.2545G>A (p.Gly849Arg) c.2119G>A (p.Gly707Arg) c.2143G>A (p.Gly715Arg) n.2274G>A c.2539G>A (p.Gly847Arg) n.2719G>A n.2699G>A c.2191G>A (p.Gly731Arg) n.2684G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.3228855G>A | CA9741569 | SLC4A11 | c.2175C>T (p.Asn725=) c.2106C>T (p.Asn702=) c.2046C>T (p.Asn682=) c.2061C>T (p.Asn687=) c.2223C>T (p.Asn741=) c.2304C>T (p.Asn768=) c.*323C>T (n.*323C>T) c.2544C>T (p.Asn848=) c.2118C>T (p.Asn706=) c.2142C>T (p.Asn714=) n.2273C>T c.2538C>T (p.Asn846=) n.2718C>T n.2698C>T c.2190C>T (p.Asn730=) n.2683C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.3228855G>C | CA408086733 | SLC4A11 | c.2175C>G (p.Asn725Lys) c.2106C>G (p.Asn702Lys) c.2046C>G (p.Asn682Lys) c.2061C>G (p.Asn687Lys) c.2223C>G (p.Asn741Lys) c.2304C>G (p.Asn768Lys) c.*323C>G (n.*323C>G) c.2544C>G (p.Asn848Lys) c.2118C>G (p.Asn706Lys) c.2142C>G (p.Asn714Lys) n.2273C>G c.2538C>G (p.Asn846Lys) n.2718C>G n.2698C>G c.2190C>G (p.Asn730Lys) n.2683C>G | |
| 20 | g.3228855G= | CA2346475206 | SLC4A11 | c.2175C= (p.Asn725=) c.2106C= (p.Asn702=) c.2046C= (p.Asn682=) c.2061C= (p.Asn687=) c.2223C= (p.Asn741=) c.2304C= (p.Asn768=) c.*323C= (n.*323C=) c.2544C= (p.Asn848=) c.2118C= (p.Asn706=) c.2142C= (p.Asn714=) n.2273C= c.2538C= (p.Asn846=) n.2718C= n.2698C= c.2190C= (p.Asn730=) n.2683C= | |
| 20 | g.3228855G>T | CA408086734 | SLC4A11 | c.2175C>A (p.Asn725Lys) c.2106C>A (p.Asn702Lys) c.2046C>A (p.Asn682Lys) c.2061C>A (p.Asn687Lys) c.2223C>A (p.Asn741Lys) c.2304C>A (p.Asn768Lys) c.*323C>A (n.*323C>A) c.2544C>A (p.Asn848Lys) c.2118C>A (p.Asn706Lys) c.2142C>A (p.Asn714Lys) n.2273C>A c.2538C>A (p.Asn846Lys) n.2718C>A n.2698C>A c.2190C>A (p.Asn730Lys) n.2683C>A | |
| 20 | g.3228856T>A | CA408086742 | SLC4A11 | c.2174A>T (p.Asn725Ile) c.2105A>T (p.Asn702Ile) c.2045A>T (p.Asn682Ile) c.2060A>T (p.Asn687Ile) c.2222A>T (p.Asn741Ile) c.2303A>T (p.Asn768Ile) c.*322A>T (n.*322A>T) c.2543A>T (p.Asn848Ile) c.2117A>T (p.Asn706Ile) c.2141A>T (p.Asn714Ile) n.2272A>T c.2537A>T (p.Asn846Ile) n.2717A>T n.2697A>T c.2189A>T (p.Asn730Ile) n.2682A>T | |
| 20 | g.3228856T>C | CA408086740 | SLC4A11 | c.2174A>G (p.Asn725Ser) c.2105A>G (p.Asn702Ser) c.2045A>G (p.Asn682Ser) c.2060A>G (p.Asn687Ser) c.2222A>G (p.Asn741Ser) c.2303A>G (p.Asn768Ser) c.*322A>G (n.*322A>G) c.2543A>G (p.Asn848Ser) c.2117A>G (p.Asn706Ser) c.2141A>G (p.Asn714Ser) n.2272A>G c.2537A>G (p.Asn846Ser) n.2717A>G n.2697A>G c.2189A>G (p.Asn730Ser) n.2682A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.3228856T>G | CA408086737 | SLC4A11 | c.2174A>C (p.Asn725Thr) c.2105A>C (p.Asn702Thr) c.2045A>C (p.Asn682Thr) c.2060A>C (p.Asn687Thr) c.2222A>C (p.Asn741Thr) c.2303A>C (p.Asn768Thr) c.*322A>C (n.*322A>C) c.2543A>C (p.Asn848Thr) c.2117A>C (p.Asn706Thr) c.2141A>C (p.Asn714Thr) n.2272A>C c.2537A>C (p.Asn846Thr) n.2717A>C n.2697A>C c.2189A>C (p.Asn730Thr) n.2682A>C | |
| 20 | g.3228856T= | CA2346475207 | SLC4A11 | c.2174A= (p.Asn725=) c.2105A= (p.Asn702=) c.2045A= (p.Asn682=) c.2060A= (p.Asn687=) c.2222A= (p.Asn741=) c.2303A= (p.Asn768=) c.*322A= (n.*322A=) c.2543A= (p.Asn848=) c.2117A= (p.Asn706=) c.2141A= (p.Asn714=) n.2272A= c.2537A= (p.Asn846=) n.2717A= n.2697A= c.2189A= (p.Asn730=) n.2682A= | |
| 20 | g.3228857T>A | CA408086745 | SLC4A11 | c.2173A>T (p.Asn725Tyr) c.2104A>T (p.Asn702Tyr) c.2044A>T (p.Asn682Tyr) c.2059A>T (p.Asn687Tyr) c.2221A>T (p.Asn741Tyr) c.2302A>T (p.Asn768Tyr) c.*321A>T (n.*321A>T) c.2542A>T (p.Asn848Tyr) c.2116A>T (p.Asn706Tyr) c.2140A>T (p.Asn714Tyr) n.2271A>T c.2536A>T (p.Asn846Tyr) n.2716A>T n.2696A>T c.2188A>T (p.Asn730Tyr) n.2681A>T | |
| 20 | g.3228857T>C | CA408086748 | SLC4A11 | c.2173A>G (p.Asn725Asp) c.2104A>G (p.Asn702Asp) c.2044A>G (p.Asn682Asp) c.2059A>G (p.Asn687Asp) c.2221A>G (p.Asn741Asp) c.2302A>G (p.Asn768Asp) c.*321A>G (n.*321A>G) c.2542A>G (p.Asn848Asp) c.2116A>G (p.Asn706Asp) c.2140A>G (p.Asn714Asp) n.2271A>G c.2536A>G (p.Asn846Asp) n.2716A>G n.2696A>G c.2188A>G (p.Asn730Asp) n.2681A>G | |
| 20 | g.3228857T>G | CA408086750 | SLC4A11 | c.2173A>C (p.Asn725His) c.2104A>C (p.Asn702His) c.2044A>C (p.Asn682His) c.2059A>C (p.Asn687His) c.2221A>C (p.Asn741His) c.2302A>C (p.Asn768His) c.*321A>C (n.*321A>C) c.2542A>C (p.Asn848His) c.2116A>C (p.Asn706His) c.2140A>C (p.Asn714His) n.2271A>C c.2536A>C (p.Asn846His) n.2716A>C n.2696A>C c.2188A>C (p.Asn730His) n.2681A>C | |
| 20 | g.3228857_3228860delinsTCTC | CA2346475208 | SLC4A11 | c.2170_2173delinsGAGA (p.Glu724=) c.2101_2104delinsGAGA (p.Glu701=) c.2041_2044delinsGAGA (p.Glu681=) c.2056_2059delinsGAGA (p.Glu686=) c.2218_2221delinsGAGA (p.Glu740=) c.2299_2302delinsGAGA (p.Glu767=) c.*318_*321delinsGAGA (n.*318_*321delinsGAGA) c.2539_2542delinsGAGA (p.Glu847=) c.2113_2116delinsGAGA (p.Glu705=) c.2137_2140delinsGAGA (p.Glu713=) n.2268_2271delinsGAGA c.2533_2536delinsGAGA (p.Glu845=) n.2713_2716delinsGAGA n.2693_2696delinsGAGA c.2185_2188delinsGAGA (p.Glu729=) n.2678_2681delinsGAGA | |
| 20 | g.3228858C>A | CA408086755 | SLC4A11 | c.2172G>T (p.Glu724Asp) c.2103G>T (p.Glu701Asp) c.2043G>T (p.Glu681Asp) c.2058G>T (p.Glu686Asp) c.2220G>T (p.Glu740Asp) c.2301G>T (p.Glu767Asp) c.*320G>T (n.*320G>T) c.2541G>T (p.Glu847Asp) c.2115G>T (p.Glu705Asp) c.2139G>T (p.Glu713Asp) n.2270G>T c.2535G>T (p.Glu845Asp) n.2715G>T n.2695G>T c.2187G>T (p.Glu729Asp) n.2680G>T | |
| 20 | g.3228858C>G | CA408086757 | SLC4A11 | c.2172G>C (p.Glu724Asp) c.2103G>C (p.Glu701Asp) c.2043G>C (p.Glu681Asp) c.2058G>C (p.Glu686Asp) c.2220G>C (p.Glu740Asp) c.2301G>C (p.Glu767Asp) c.*320G>C (n.*320G>C) c.2541G>C (p.Glu847Asp) c.2115G>C (p.Glu705Asp) c.2139G>C (p.Glu713Asp) n.2270G>C c.2535G>C (p.Glu845Asp) n.2715G>C n.2695G>C c.2187G>C (p.Glu729Asp) n.2680G>C | |
| 20 | g.3228858C>T | CA509558156 | SLC4A11 | c.2172G>A (p.Glu724=) c.2103G>A (p.Glu701=) c.2043G>A (p.Glu681=) c.2058G>A (p.Glu686=) c.2220G>A (p.Glu740=) c.2301G>A (p.Glu767=) c.*320G>A (n.*320G>A) c.2541G>A (p.Glu847=) c.2115G>A (p.Glu705=) c.2139G>A (p.Glu713=) n.2270G>A c.2535G>A (p.Glu845=) n.2715G>A n.2695G>A c.2187G>A (p.Glu729=) n.2680G>A | |
| 20 | g.3228859_3228861del | CA9741570 | SLC4A11 | c.2170_2172del (p.Glu724del) c.2101_2103del (p.Glu701del) c.2041_2043del (p.Glu681del) c.2056_2058del (p.Glu686del) c.2218_2220del (p.Glu740del) c.2299_2301del (p.Glu767del) c.*318_*320del (n.*318_*320del) c.2539_2541del (p.Glu847del) c.2113_2115del (p.Glu705del) c.2137_2139del (p.Glu713del) n.2268_2270del c.2533_2535del (p.Glu845del) n.2713_2715del n.2693_2695del c.2185_2187del (p.Glu729del) n.2678_2680del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.3228859T>A | CA408086763 | SLC4A11 | c.2171A>T (p.Glu724Val) c.2102A>T (p.Glu701Val) c.2042A>T (p.Glu681Val) c.2057A>T (p.Glu686Val) c.2219A>T (p.Glu740Val) c.2300A>T (p.Glu767Val) c.*319A>T (n.*319A>T) c.2540A>T (p.Glu847Val) c.2114A>T (p.Glu705Val) c.2138A>T (p.Glu713Val) n.2269A>T c.2534A>T (p.Glu845Val) n.2714A>T n.2694A>T c.2186A>T (p.Glu729Val) n.2679A>T | |
| 20 | g.3228859T>C | CA408086765 | SLC4A11 | c.2171A>G (p.Glu724Gly) c.2102A>G (p.Glu701Gly) c.2042A>G (p.Glu681Gly) c.2057A>G (p.Glu686Gly) c.2219A>G (p.Glu740Gly) c.2300A>G (p.Glu767Gly) c.*319A>G (n.*319A>G) c.2540A>G (p.Glu847Gly) c.2114A>G (p.Glu705Gly) c.2138A>G (p.Glu713Gly) n.2269A>G c.2534A>G (p.Glu845Gly) n.2714A>G n.2694A>G c.2186A>G (p.Glu729Gly) n.2679A>G | |
| 20 | g.3228859T>G | CA408086768 | SLC4A11 | c.2171A>C (p.Glu724Ala) c.2102A>C (p.Glu701Ala) c.2042A>C (p.Glu681Ala) c.2057A>C (p.Glu686Ala) c.2219A>C (p.Glu740Ala) c.2300A>C (p.Glu767Ala) c.*319A>C (n.*319A>C) c.2540A>C (p.Glu847Ala) c.2114A>C (p.Glu705Ala) c.2138A>C (p.Glu713Ala) n.2269A>C c.2534A>C (p.Glu845Ala) n.2714A>C n.2694A>C c.2186A>C (p.Glu729Ala) n.2679A>C | |
| 20 | g.3228860C>A | CA408086771 | SLC4A11 | c.2170G>T (p.Glu724Ter) c.2101G>T (p.Glu701Ter) c.2041G>T (p.Glu681Ter) c.2056G>T (p.Glu686Ter) c.2218G>T (p.Glu740Ter) c.2299G>T (p.Glu767Ter) c.*318G>T (n.*318G>T) c.2539G>T (p.Glu847Ter) c.2113G>T (p.Glu705Ter) c.2137G>T (p.Glu713Ter) n.2268G>T c.2533G>T (p.Glu845Ter) n.2713G>T n.2693G>T c.2185G>T (p.Glu729Ter) n.2678G>T | |
| 20 | g.3228860C>G | CA408086772 | SLC4A11 | c.2170G>C (p.Glu724Gln) c.2101G>C (p.Glu701Gln) c.2041G>C (p.Glu681Gln) c.2056G>C (p.Glu686Gln) c.2218G>C (p.Glu740Gln) c.2299G>C (p.Glu767Gln) c.*318G>C (n.*318G>C) c.2539G>C (p.Glu847Gln) c.2113G>C (p.Glu705Gln) c.2137G>C (p.Glu713Gln) n.2268G>C c.2533G>C (p.Glu845Gln) n.2713G>C n.2693G>C c.2185G>C (p.Glu729Gln) n.2678G>C | |
| 20 | g.3228860C>T | CA408086775 | SLC4A11 | c.2170G>A (p.Glu724Lys) c.2101G>A (p.Glu701Lys) c.2041G>A (p.Glu681Lys) c.2056G>A (p.Glu686Lys) c.2218G>A (p.Glu740Lys) c.2299G>A (p.Glu767Lys) c.*318G>A (n.*318G>A) c.2539G>A (p.Glu847Lys) c.2113G>A (p.Glu705Lys) c.2137G>A (p.Glu713Lys) n.2268G>A c.2533G>A (p.Glu845Lys) n.2713G>A n.2693G>A c.2185G>A (p.Glu729Lys) n.2678G>A | |
| 20 | g.3228861C>A | CA509558158 | SLC4A11 | c.2169G>T (p.Val723=) c.2100G>T (p.Val700=) c.2040G>T (p.Val680=) c.2055G>T (p.Val685=) c.2217G>T (p.Val739=) c.2298G>T (p.Val766=) c.*317G>T (n.*317G>T) c.2538G>T (p.Val846=) c.2112G>T (p.Val704=) c.2136G>T (p.Val712=) n.2267G>T c.2532G>T (p.Val844=) n.2712G>T n.2692G>T c.2184G>T (p.Val728=) n.2677G>T | |
| 20 | g.3228861C>G | CA509558160 | SLC4A11 | c.2169G>C (p.Val723=) c.2100G>C (p.Val700=) c.2040G>C (p.Val680=) c.2055G>C (p.Val685=) c.2217G>C (p.Val739=) c.2298G>C (p.Val766=) c.*317G>C (n.*317G>C) c.2538G>C (p.Val846=) c.2112G>C (p.Val704=) c.2136G>C (p.Val712=) n.2267G>C c.2532G>C (p.Val844=) n.2712G>C n.2692G>C c.2184G>C (p.Val728=) n.2677G>C | |
| 20 | g.3228861C>T | CA509558161 | SLC4A11 | c.2169G>A (p.Val723=) c.2100G>A (p.Val700=) c.2040G>A (p.Val680=) c.2055G>A (p.Val685=) c.2217G>A (p.Val739=) c.2298G>A (p.Val766=) c.*317G>A (n.*317G>A) c.2538G>A (p.Val846=) c.2112G>A (p.Val704=) c.2136G>A (p.Val712=) n.2267G>A c.2532G>A (p.Val844=) n.2712G>A n.2692G>A c.2184G>A (p.Val728=) n.2677G>A | |
| 20 | g.3228862A>C | CA408086777 | SLC4A11 | c.2168T>G (p.Val723Gly) c.2099T>G (p.Val700Gly) c.2039T>G (p.Val680Gly) c.2054T>G (p.Val685Gly) c.2216T>G (p.Val739Gly) c.2297T>G (p.Val766Gly) c.*316T>G (n.*316T>G) c.2537T>G (p.Val846Gly) c.2111T>G (p.Val704Gly) c.2135T>G (p.Val712Gly) n.2266T>G c.2531T>G (p.Val844Gly) n.2711T>G n.2691T>G c.2183T>G (p.Val728Gly) n.2676T>G | |
| 20 | g.3228862A>G | CA408086781 | SLC4A11 | c.2168T>C (p.Val723Ala) c.2099T>C (p.Val700Ala) c.2039T>C (p.Val680Ala) c.2054T>C (p.Val685Ala) c.2216T>C (p.Val739Ala) c.2297T>C (p.Val766Ala) c.*316T>C (n.*316T>C) c.2537T>C (p.Val846Ala) c.2111T>C (p.Val704Ala) c.2135T>C (p.Val712Ala) n.2266T>C c.2531T>C (p.Val844Ala) n.2711T>C n.2691T>C c.2183T>C (p.Val728Ala) n.2676T>C | |
| 20 | g.3228862A>T | CA408086780 | SLC4A11 | c.2168T>A (p.Val723Glu) c.2099T>A (p.Val700Glu) c.2039T>A (p.Val680Glu) c.2054T>A (p.Val685Glu) c.2216T>A (p.Val739Glu) c.2297T>A (p.Val766Glu) c.*316T>A (n.*316T>A) c.2537T>A (p.Val846Glu) c.2111T>A (p.Val704Glu) c.2135T>A (p.Val712Glu) n.2266T>A c.2531T>A (p.Val844Glu) n.2711T>A n.2691T>A c.2183T>A (p.Val728Glu) n.2676T>A | COSMIC |
| 20 | g.3228863C>A | CA408086783 | SLC4A11 | c.2167G>T (p.Val723Leu) c.2098G>T (p.Val700Leu) c.2038G>T (p.Val680Leu) c.2053G>T (p.Val685Leu) c.2215G>T (p.Val739Leu) c.2296G>T (p.Val766Leu) c.*315G>T (n.*315G>T) c.2536G>T (p.Val846Leu) c.2110G>T (p.Val704Leu) c.2134G>T (p.Val712Leu) n.2265G>T c.2530G>T (p.Val844Leu) n.2710G>T n.2690G>T c.2182G>T (p.Val728Leu) n.2675G>T | |
| 20 | g.3228863C>G | CA408086784 | SLC4A11 | c.2167G>C (p.Val723Leu) c.2098G>C (p.Val700Leu) c.2038G>C (p.Val680Leu) c.2053G>C (p.Val685Leu) c.2215G>C (p.Val739Leu) c.2296G>C (p.Val766Leu) c.*315G>C (n.*315G>C) c.2536G>C (p.Val846Leu) c.2110G>C (p.Val704Leu) c.2134G>C (p.Val712Leu) n.2265G>C c.2530G>C (p.Val844Leu) n.2710G>C n.2690G>C c.2182G>C (p.Val728Leu) n.2675G>C | |
| 20 | g.3228863C>T | CA408086786 | SLC4A11 | c.2167G>A (p.Val723Met) c.2098G>A (p.Val700Met) c.2038G>A (p.Val680Met) c.2053G>A (p.Val685Met) c.2215G>A (p.Val739Met) c.2296G>A (p.Val766Met) c.*315G>A (n.*315G>A) c.2536G>A (p.Val846Met) c.2110G>A (p.Val704Met) c.2134G>A (p.Val712Met) n.2265G>A c.2530G>A (p.Val844Met) n.2710G>A n.2690G>A c.2182G>A (p.Val728Met) n.2675G>A | |
| 20 | g.3228864A>C | CA509558162 | SLC4A11 | c.2166T>G (p.Arg722=) c.2097T>G (p.Arg699=) c.2037T>G (p.Arg679=) c.2052T>G (p.Arg684=) c.2214T>G (p.Arg738=) c.2295T>G (p.Arg765=) c.*314T>G (n.*314T>G) c.2535T>G (p.Arg845=) c.2109T>G (p.Arg703=) c.2133T>G (p.Arg711=) n.2264T>G c.2529T>G (p.Arg843=) n.2709T>G n.2689T>G c.2181T>G (p.Arg727=) n.2674T>G | |
| 20 | g.3228864A>G | CA509558163 | SLC4A11 | c.2166T>C (p.Arg722=) c.2097T>C (p.Arg699=) c.2037T>C (p.Arg679=) c.2052T>C (p.Arg684=) c.2214T>C (p.Arg738=) c.2295T>C (p.Arg765=) c.*314T>C (n.*314T>C) c.2535T>C (p.Arg845=) c.2109T>C (p.Arg703=) c.2133T>C (p.Arg711=) n.2264T>C c.2529T>C (p.Arg843=) n.2709T>C n.2689T>C c.2181T>C (p.Arg727=) n.2674T>C | |
| 20 | g.3228864A>T | CA509558164 | SLC4A11 | c.2166T>A (p.Arg722=) c.2097T>A (p.Arg699=) c.2037T>A (p.Arg679=) c.2052T>A (p.Arg684=) c.2214T>A (p.Arg738=) c.2295T>A (p.Arg765=) c.*314T>A (n.*314T>A) c.2535T>A (p.Arg845=) c.2109T>A (p.Arg703=) c.2133T>A (p.Arg711=) n.2264T>A c.2529T>A (p.Arg843=) n.2709T>A n.2689T>A c.2181T>A (p.Arg727=) n.2674T>A | |
| 20 | g.3228865C>A | CA9741572 | SLC4A11 | c.2165G>T (p.Arg722Leu) c.2096G>T (p.Arg699Leu) c.2036G>T (p.Arg679Leu) c.2051G>T (p.Arg684Leu) c.2213G>T (p.Arg738Leu) c.2294G>T (p.Arg765Leu) c.*313G>T (n.*313G>T) c.2534G>T (p.Arg845Leu) c.2108G>T (p.Arg703Leu) c.2132G>T (p.Arg711Leu) n.2263G>T c.2528G>T (p.Arg843Leu) n.2708G>T n.2688G>T c.2180G>T (p.Arg727Leu) n.2673G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.3228865C= | CA2346475209 | SLC4A11 | c.2165G= (p.Arg722=) c.2096G= (p.Arg699=) c.2036G= (p.Arg679=) c.2051G= (p.Arg684=) c.2213G= (p.Arg738=) c.2294G= (p.Arg765=) c.*313G= (n.*313G=) c.2534G= (p.Arg845=) c.2108G= (p.Arg703=) c.2132G= (p.Arg711=) n.2263G= c.2528G= (p.Arg843=) n.2708G= n.2688G= c.2180G= (p.Arg727=) n.2673G= | |
| 20 | g.3228865C>G | CA408086791 | SLC4A11 | c.2165G>C (p.Arg722Pro) c.2096G>C (p.Arg699Pro) c.2036G>C (p.Arg679Pro) c.2051G>C (p.Arg684Pro) c.2213G>C (p.Arg738Pro) c.2294G>C (p.Arg765Pro) c.*313G>C (n.*313G>C) c.2534G>C (p.Arg845Pro) c.2108G>C (p.Arg703Pro) c.2132G>C (p.Arg711Pro) n.2263G>C c.2528G>C (p.Arg843Pro) n.2708G>C n.2688G>C c.2180G>C (p.Arg727Pro) n.2673G>C | gnomAD v4 |
| 20 | g.3228865C>T | CA9741571 | SLC4A11 | c.2165G>A (p.Arg722His) c.2096G>A (p.Arg699His) c.2036G>A (p.Arg679His) c.2051G>A (p.Arg684His) c.2213G>A (p.Arg738His) c.2294G>A (p.Arg765His) c.*313G>A (n.*313G>A) c.2534G>A (p.Arg845His) c.2108G>A (p.Arg703His) c.2132G>A (p.Arg711His) n.2263G>A c.2528G>A (p.Arg843His) n.2708G>A n.2688G>A c.2180G>A (p.Arg727His) n.2673G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |