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 |
|---|---|---|---|---|---|
| 9 | g.114404006_114408890del | CA916084278 | WHRN | c.1627-868_2312del c.600-868_1285del n.1508-868_2193del c.478-868_1163del c.574-868_1259del c.1627-868_2309del c.964-868_1649del c.1660-868_2345del c.1660-868_2342del c.1534-868_2219del c.1417-868_2102del c.337-868_1022del n.2564-868_3249del n.2462-868_3147del n.1875-868_2560del n.1773-868_2458del | ClinVar |
| 9 | g.114406410G>A | CA466911435 | WHRN | c.525C>T (p.His175=) c.2181C>T (p.His727=) c.1154C>T n.2062C>T c.1032C>T (p.His344=) c.1128C>T (p.His376=) c.1518C>T (p.His506=) c.2214C>T (p.His738=) c.2088C>T (p.His696=) c.1971C>T (p.His657=) c.891C>T (p.His297=) n.3118C>T n.3016C>T n.2429C>T n.2327C>T | |
| 9 | g.114406410G>C | CA374620126 | WHRN | c.525C>G (p.His175Gln) c.2181C>G (p.His727Gln) c.1154C>G n.2062C>G c.1032C>G (p.His344Gln) c.1128C>G (p.His376Gln) c.1518C>G (p.His506Gln) c.2214C>G (p.His738Gln) c.2088C>G (p.His696Gln) c.1971C>G (p.His657Gln) c.891C>G (p.His297Gln) n.3118C>G n.3016C>G n.2429C>G n.2327C>G | gnomAD v4 |
| 9 | g.114406410G>T | CA374620127 | WHRN | c.525C>A (p.His175Gln) c.2181C>A (p.His727Gln) c.1154C>A n.2062C>A c.1032C>A (p.His344Gln) c.1128C>A (p.His376Gln) c.1518C>A (p.His506Gln) c.2214C>A (p.His738Gln) c.2088C>A (p.His696Gln) c.1971C>A (p.His657Gln) c.891C>A (p.His297Gln) n.3118C>A n.3016C>A n.2429C>A n.2327C>A | |
| 9 | g.114406411T>A | CA374620128 | WHRN | c.524A>T (p.His175Leu) c.2180A>T (p.His727Leu) c.1153A>T n.2061A>T c.1031A>T (p.His344Leu) c.1127A>T (p.His376Leu) c.1517A>T (p.His506Leu) c.2213A>T (p.His738Leu) c.2087A>T (p.His696Leu) c.1970A>T (p.His657Leu) c.890A>T (p.His297Leu) n.3117A>T n.3015A>T n.2428A>T n.2326A>T | |
| 9 | g.114406411T>C | CA374620129 | WHRN | c.524A>G (p.His175Arg) c.2180A>G (p.His727Arg) c.1153A>G n.2061A>G c.1031A>G (p.His344Arg) c.1127A>G (p.His376Arg) c.1517A>G (p.His506Arg) c.2213A>G (p.His738Arg) c.2087A>G (p.His696Arg) c.1970A>G (p.His657Arg) c.890A>G (p.His297Arg) n.3117A>G n.3015A>G n.2428A>G n.2326A>G | |
| 9 | g.114406411T>G | CA374620130 | WHRN | c.524A>C (p.His175Pro) c.2180A>C (p.His727Pro) c.1153A>C n.2061A>C c.1031A>C (p.His344Pro) c.1127A>C (p.His376Pro) c.1517A>C (p.His506Pro) c.2213A>C (p.His738Pro) c.2087A>C (p.His696Pro) c.1970A>C (p.His657Pro) c.890A>C (p.His297Pro) n.3117A>C n.3015A>C n.2428A>C n.2326A>C | dbSNP |
| 9 | g.114406411T= | CA1873827080 | WHRN | c.524A= (p.His175=) c.2180A= (p.His727=) c.1153A= n.2061A= c.1031A= (p.His344=) c.1127A= (p.His376=) c.1517A= (p.His506=) c.2213A= (p.His738=) c.2087A= (p.His696=) c.1970A= (p.His657=) c.890A= (p.His297=) n.3117A= n.3015A= n.2428A= n.2326A= | |
| 9 | g.114406412G>A | CA198649882 | WHRN | c.523C>T (p.His175Tyr) c.2179C>T (p.His727Tyr) c.1152C>T n.2060C>T c.1030C>T (p.His344Tyr) c.1126C>T (p.His376Tyr) c.1516C>T (p.His506Tyr) c.2212C>T (p.His738Tyr) c.2086C>T (p.His696Tyr) c.1969C>T (p.His657Tyr) c.889C>T (p.His297Tyr) n.3116C>T n.3014C>T n.2427C>T n.2325C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.114406412G>C | CA374620131 | WHRN | c.523C>G (p.His175Asp) c.2179C>G (p.His727Asp) c.1152C>G n.2060C>G c.1030C>G (p.His344Asp) c.1126C>G (p.His376Asp) c.1516C>G (p.His506Asp) c.2212C>G (p.His738Asp) c.2086C>G (p.His696Asp) c.1969C>G (p.His657Asp) c.889C>G (p.His297Asp) n.3116C>G n.3014C>G n.2427C>G n.2325C>G | gnomAD v4 |
| 9 | g.114406412G= | CA1873827081 | WHRN | c.523C= (p.His175=) c.2179C= (p.His727=) c.1152C= n.2060C= c.1030C= (p.His344=) c.1126C= (p.His376=) c.1516C= (p.His506=) c.2212C= (p.His738=) c.2086C= (p.His696=) c.1969C= (p.His657=) c.889C= (p.His297=) n.3116C= n.3014C= n.2427C= n.2325C= | |
| 9 | g.114406412G>T | CA374620132 | WHRN | c.523C>A (p.His175Asn) c.2179C>A (p.His727Asn) c.1152C>A n.2060C>A c.1030C>A (p.His344Asn) c.1126C>A (p.His376Asn) c.1516C>A (p.His506Asn) c.2212C>A (p.His738Asn) c.2086C>A (p.His696Asn) c.1969C>A (p.His657Asn) c.889C>A (p.His297Asn) n.3116C>A n.3014C>A n.2427C>A n.2325C>A | |
| 9 | g.114406413G>A | CA466911445 | WHRN | c.522C>T (p.Val174=) c.2178C>T (p.Val726=) c.1151C>T n.2059C>T c.1029C>T (p.Val343=) c.1125C>T (p.Val375=) c.1515C>T (p.Val505=) c.2211C>T (p.Val737=) c.2085C>T (p.Val695=) c.1968C>T (p.Val656=) c.888C>T (p.Val296=) n.3115C>T n.3013C>T n.2426C>T n.2324C>T | |
| 9 | g.114406413G>C | CA466911447 | WHRN | c.522C>G (p.Val174=) c.2178C>G (p.Val726=) c.1151C>G n.2059C>G c.1029C>G (p.Val343=) c.1125C>G (p.Val375=) c.1515C>G (p.Val505=) c.2211C>G (p.Val737=) c.2085C>G (p.Val695=) c.1968C>G (p.Val656=) c.888C>G (p.Val296=) n.3115C>G n.3013C>G n.2426C>G n.2324C>G | |
| 9 | g.114406413G>T | CA466911449 | WHRN | c.522C>A (p.Val174=) c.2178C>A (p.Val726=) c.1151C>A n.2059C>A c.1029C>A (p.Val343=) c.1125C>A (p.Val375=) c.1515C>A (p.Val505=) c.2211C>A (p.Val737=) c.2085C>A (p.Val695=) c.1968C>A (p.Val656=) c.888C>A (p.Val296=) n.3115C>A n.3013C>A n.2426C>A n.2324C>A | |
| 9 | g.114406414A>C | CA374620133 | WHRN | c.521T>G (p.Val174Gly) c.2177T>G (p.Val726Gly) c.1150T>G n.2058T>G c.1028T>G (p.Val343Gly) c.1124T>G (p.Val375Gly) c.1514T>G (p.Val505Gly) c.2210T>G (p.Val737Gly) c.2084T>G (p.Val695Gly) c.1967T>G (p.Val656Gly) c.887T>G (p.Val296Gly) n.3114T>G n.3012T>G n.2425T>G n.2323T>G | gnomAD v4 |
| 9 | g.114406414A>G | CA374620134 | WHRN | c.521T>C (p.Val174Ala) c.2177T>C (p.Val726Ala) c.1150T>C n.2058T>C c.1028T>C (p.Val343Ala) c.1124T>C (p.Val375Ala) c.1514T>C (p.Val505Ala) c.2210T>C (p.Val737Ala) c.2084T>C (p.Val695Ala) c.1967T>C (p.Val656Ala) c.887T>C (p.Val296Ala) n.3114T>C n.3012T>C n.2425T>C n.2323T>C | |
| 9 | g.114406414A>T | CA374620135 | WHRN | c.521T>A (p.Val174Asp) c.2177T>A (p.Val726Asp) c.1150T>A n.2058T>A c.1028T>A (p.Val343Asp) c.1124T>A (p.Val375Asp) c.1514T>A (p.Val505Asp) c.2210T>A (p.Val737Asp) c.2084T>A (p.Val695Asp) c.1967T>A (p.Val656Asp) c.887T>A (p.Val296Asp) n.3114T>A n.3012T>A n.2425T>A n.2323T>A | |
| 9 | g.114406415C>A | CA374620137 | WHRN | c.520G>T (p.Val174Phe) c.2176G>T (p.Val726Phe) c.1149G>T n.2057G>T c.1027G>T (p.Val343Phe) c.1123G>T (p.Val375Phe) c.1513G>T (p.Val505Phe) c.2209G>T (p.Val737Phe) c.2083G>T (p.Val695Phe) c.1966G>T (p.Val656Phe) c.886G>T (p.Val296Phe) n.3113G>T n.3011G>T n.2424G>T n.2322G>T | |
| 9 | g.114406415C>G | CA374620138 | WHRN | c.520G>C (p.Val174Leu) c.2176G>C (p.Val726Leu) c.1149G>C n.2057G>C c.1027G>C (p.Val343Leu) c.1123G>C (p.Val375Leu) c.1513G>C (p.Val505Leu) c.2209G>C (p.Val737Leu) c.2083G>C (p.Val695Leu) c.1966G>C (p.Val656Leu) c.886G>C (p.Val296Leu) n.3113G>C n.3011G>C n.2424G>C n.2322G>C | |
| 9 | g.114406415C>T | CA374620136 | WHRN | c.520G>A (p.Val174Ile) c.2176G>A (p.Val726Ile) c.1149G>A n.2057G>A c.1027G>A (p.Val343Ile) c.1123G>A (p.Val375Ile) c.1513G>A (p.Val505Ile) c.2209G>A (p.Val737Ile) c.2083G>A (p.Val695Ile) c.1966G>A (p.Val656Ile) c.886G>A (p.Val296Ile) n.3113G>A n.3011G>A n.2424G>A n.2322G>A | COSMIC COSMIC |
| 9 | g.114406416C>A | CA5205727 | WHRN | c.519G>T (p.Glu173Asp) c.2175G>T (p.Glu725Asp) c.1148G>T n.2056G>T c.1026G>T (p.Glu342Asp) c.1122G>T (p.Glu374Asp) c.1512G>T (p.Glu504Asp) c.2208G>T (p.Glu736Asp) c.2082G>T (p.Glu694Asp) c.1965G>T (p.Glu655Asp) c.885G>T (p.Glu295Asp) n.3112G>T n.3010G>T n.2423G>T n.2321G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.114406416C= | CA1873827082 | WHRN | c.519G= (p.Glu173=) c.2175G= (p.Glu725=) c.1148G= n.2056G= c.1026G= (p.Glu342=) c.1122G= (p.Glu374=) c.1512G= (p.Glu504=) c.2208G= (p.Glu736=) c.2082G= (p.Glu694=) c.1965G= (p.Glu655=) c.885G= (p.Glu295=) n.3112G= n.3010G= n.2423G= n.2321G= | |
| 9 | g.114406416C>G | CA374620139 | WHRN | c.519G>C (p.Glu173Asp) c.2175G>C (p.Glu725Asp) c.1148G>C n.2056G>C c.1026G>C (p.Glu342Asp) c.1122G>C (p.Glu374Asp) c.1512G>C (p.Glu504Asp) c.2208G>C (p.Glu736Asp) c.2082G>C (p.Glu694Asp) c.1965G>C (p.Glu655Asp) c.885G>C (p.Glu295Asp) n.3112G>C n.3010G>C n.2423G>C n.2321G>C | |
| 9 | g.114406416C>T | CA466911458 | WHRN | c.519G>A (p.Glu173=) c.2175G>A (p.Glu725=) c.1148G>A n.2056G>A c.1026G>A (p.Glu342=) c.1122G>A (p.Glu374=) c.1512G>A (p.Glu504=) c.2208G>A (p.Glu736=) c.2082G>A (p.Glu694=) c.1965G>A (p.Glu655=) c.885G>A (p.Glu295=) n.3112G>A n.3010G>A n.2423G>A n.2321G>A | gnomAD v4 |
| 9 | g.114406417T>A | CA374620140 | WHRN | c.518A>T (p.Glu173Val) c.2174A>T (p.Glu725Val) c.1147A>T n.2055A>T c.1025A>T (p.Glu342Val) c.1121A>T (p.Glu374Val) c.1511A>T (p.Glu504Val) c.2207A>T (p.Glu736Val) c.2081A>T (p.Glu694Val) c.1964A>T (p.Glu655Val) c.884A>T (p.Glu295Val) n.3111A>T n.3009A>T n.2422A>T n.2320A>T | |
| 9 | g.114406417T>C | CA374620141 | WHRN | c.518A>G (p.Glu173Gly) c.2174A>G (p.Glu725Gly) c.1147A>G n.2055A>G c.1025A>G (p.Glu342Gly) c.1121A>G (p.Glu374Gly) c.1511A>G (p.Glu504Gly) c.2207A>G (p.Glu736Gly) c.2081A>G (p.Glu694Gly) c.1964A>G (p.Glu655Gly) c.884A>G (p.Glu295Gly) n.3111A>G n.3009A>G n.2422A>G n.2320A>G | |
| 9 | g.114406417T>G | CA374620142 | WHRN | c.518A>C (p.Glu173Ala) c.2174A>C (p.Glu725Ala) c.1147A>C n.2055A>C c.1025A>C (p.Glu342Ala) c.1121A>C (p.Glu374Ala) c.1511A>C (p.Glu504Ala) c.2207A>C (p.Glu736Ala) c.2081A>C (p.Glu694Ala) c.1964A>C (p.Glu655Ala) c.884A>C (p.Glu295Ala) n.3111A>C n.3009A>C n.2422A>C n.2320A>C | gnomAD v4 |
| 9 | g.114406418C>A | CA374620143 | WHRN | c.517G>T (p.Glu173Ter) c.2173G>T (p.Glu725Ter) c.1146G>T n.2054G>T c.1024G>T (p.Glu342Ter) c.1120G>T (p.Glu374Ter) c.1510G>T (p.Glu504Ter) c.2206G>T (p.Glu736Ter) c.2080G>T (p.Glu694Ter) c.1963G>T (p.Glu655Ter) c.883G>T (p.Glu295Ter) n.3110G>T n.3008G>T n.2421G>T n.2319G>T | |
| 9 | g.114406418C= | CA1873827083 | WHRN | c.517G= (p.Glu173=) c.2173G= (p.Glu725=) c.1146G= n.2054G= c.1024G= (p.Glu342=) c.1120G= (p.Glu374=) c.1510G= (p.Glu504=) c.2206G= (p.Glu736=) c.2080G= (p.Glu694=) c.1963G= (p.Glu655=) c.883G= (p.Glu295=) n.3110G= n.3008G= n.2421G= n.2319G= | |
| 9 | g.114406418C>G | CA10628846 | WHRN | c.517G>C (p.Glu173Gln) c.2173G>C (p.Glu725Gln) c.1146G>C n.2054G>C c.1024G>C (p.Glu342Gln) c.1120G>C (p.Glu374Gln) c.1510G>C (p.Glu504Gln) c.2206G>C (p.Glu736Gln) c.2080G>C (p.Glu694Gln) c.1963G>C (p.Glu655Gln) c.883G>C (p.Glu295Gln) n.3110G>C n.3008G>C n.2421G>C n.2319G>C | ClinVar dbSNP |
| 9 | g.114406418C>T | CA5205728 | WHRN | c.517G>A (p.Glu173Lys) c.2173G>A (p.Glu725Lys) c.1146G>A n.2054G>A c.1024G>A (p.Glu342Lys) c.1120G>A (p.Glu374Lys) c.1510G>A (p.Glu504Lys) c.2206G>A (p.Glu736Lys) c.2080G>A (p.Glu694Lys) c.1963G>A (p.Glu655Lys) c.883G>A (p.Glu295Lys) n.3110G>A n.3008G>A n.2421G>A n.2319G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.114406419C>A | CA466911468 | WHRN | c.516G>T (p.Val172=) c.2172G>T (p.Val724=) c.1145G>T n.2053G>T c.1023G>T (p.Val341=) c.1119G>T (p.Val373=) c.1509G>T (p.Val503=) c.2205G>T (p.Val735=) c.2079G>T (p.Val693=) c.1962G>T (p.Val654=) c.882G>T (p.Val294=) n.3109G>T n.3007G>T n.2420G>T n.2318G>T | |
| 9 | g.114406419C= | CA1873827084 | WHRN | c.516G= (p.Val172=) c.2172G= (p.Val724=) c.1145G= n.2053G= c.1023G= (p.Val341=) c.1119G= (p.Val373=) c.1509G= (p.Val503=) c.2205G= (p.Val735=) c.2079G= (p.Val693=) c.1962G= (p.Val654=) c.882G= (p.Val294=) n.3109G= n.3007G= n.2420G= n.2318G= | |
| 9 | g.114406419C>G | CA466911469 | WHRN | c.516G>C (p.Val172=) c.2172G>C (p.Val724=) c.1145G>C n.2053G>C c.1023G>C (p.Val341=) c.1119G>C (p.Val373=) c.1509G>C (p.Val503=) c.2205G>C (p.Val735=) c.2079G>C (p.Val693=) c.1962G>C (p.Val654=) c.882G>C (p.Val294=) n.3109G>C n.3007G>C n.2420G>C n.2318G>C | |
| 9 | g.114406419C>T | CA466911470 | WHRN | c.516G>A (p.Val172=) c.2172G>A (p.Val724=) c.1145G>A n.2053G>A c.1023G>A (p.Val341=) c.1119G>A (p.Val373=) c.1509G>A (p.Val503=) c.2205G>A (p.Val735=) c.2079G>A (p.Val693=) c.1962G>A (p.Val654=) c.882G>A (p.Val294=) n.3109G>A n.3007G>A n.2420G>A n.2318G>A | dbSNP gnomAD v4 |
| 9 | g.114406420A>C | CA374620144 | WHRN | c.515T>G (p.Val172Gly) c.2171T>G (p.Val724Gly) c.1144T>G n.2052T>G c.1022T>G (p.Val341Gly) c.1118T>G (p.Val373Gly) c.1508T>G (p.Val503Gly) c.2204T>G (p.Val735Gly) c.2078T>G (p.Val693Gly) c.1961T>G (p.Val654Gly) c.881T>G (p.Val294Gly) n.3108T>G n.3006T>G n.2419T>G n.2317T>G | |
| 9 | g.114406420A>G | CA374620145 | WHRN | c.515T>C (p.Val172Ala) c.2171T>C (p.Val724Ala) c.1144T>C n.2052T>C c.1022T>C (p.Val341Ala) c.1118T>C (p.Val373Ala) c.1508T>C (p.Val503Ala) c.2204T>C (p.Val735Ala) c.2078T>C (p.Val693Ala) c.1961T>C (p.Val654Ala) c.881T>C (p.Val294Ala) n.3108T>C n.3006T>C n.2419T>C n.2317T>C | |
| 9 | g.114406420A>T | CA374620146 | WHRN | c.515T>A (p.Val172Glu) c.2171T>A (p.Val724Glu) c.1144T>A n.2052T>A c.1022T>A (p.Val341Glu) c.1118T>A (p.Val373Glu) c.1508T>A (p.Val503Glu) c.2204T>A (p.Val735Glu) c.2078T>A (p.Val693Glu) c.1961T>A (p.Val654Glu) c.881T>A (p.Val294Glu) n.3108T>A n.3006T>A n.2419T>A n.2317T>A | |
| 9 | g.114406421C>A | CA374620149 | WHRN | c.514G>T (p.Val172Leu) c.2170G>T (p.Val724Leu) c.1143G>T n.2051G>T c.1021G>T (p.Val341Leu) c.1117G>T (p.Val373Leu) c.1507G>T (p.Val503Leu) c.2203G>T (p.Val735Leu) c.2077G>T (p.Val693Leu) c.1960G>T (p.Val654Leu) c.880G>T (p.Val294Leu) n.3107G>T n.3005G>T n.2418G>T n.2316G>T | |
| 9 | g.114406421C>G | CA374620148 | WHRN | c.514G>C (p.Val172Leu) c.2170G>C (p.Val724Leu) c.1143G>C n.2051G>C c.1021G>C (p.Val341Leu) c.1117G>C (p.Val373Leu) c.1507G>C (p.Val503Leu) c.2203G>C (p.Val735Leu) c.2077G>C (p.Val693Leu) c.1960G>C (p.Val654Leu) c.880G>C (p.Val294Leu) n.3107G>C n.3005G>C n.2418G>C n.2316G>C | |
| 9 | g.114406421C>T | CA374620147 | WHRN | c.514G>A (p.Val172Met) c.2170G>A (p.Val724Met) c.1143G>A n.2051G>A c.1021G>A (p.Val341Met) c.1117G>A (p.Val373Met) c.1507G>A (p.Val503Met) c.2203G>A (p.Val735Met) c.2077G>A (p.Val693Met) c.1960G>A (p.Val654Met) c.880G>A (p.Val294Met) n.3107G>A n.3005G>A n.2418G>A n.2316G>A | |
| 9 | g.114406422C>A | CA374620150 | WHRN | c.513G>T (p.Met171Ile) c.2169G>T (p.Met723Ile) c.1142G>T n.2050G>T c.1020G>T (p.Met340Ile) c.1116G>T (p.Met372Ile) c.1506G>T (p.Met502Ile) c.2202G>T (p.Met734Ile) c.2076G>T (p.Met692Ile) c.1959G>T (p.Met653Ile) c.879G>T (p.Met293Ile) n.3106G>T n.3004G>T n.2417G>T n.2315G>T | |
| 9 | g.114406422C>G | CA374620151 | WHRN | c.513G>C (p.Met171Ile) c.2169G>C (p.Met723Ile) c.1142G>C n.2050G>C c.1020G>C (p.Met340Ile) c.1116G>C (p.Met372Ile) c.1506G>C (p.Met502Ile) c.2202G>C (p.Met734Ile) c.2076G>C (p.Met692Ile) c.1959G>C (p.Met653Ile) c.879G>C (p.Met293Ile) n.3106G>C n.3004G>C n.2417G>C n.2315G>C | |
| 9 | g.114406422C>T | CA374620152 | WHRN | c.513G>A (p.Met171Ile) c.2169G>A (p.Met723Ile) c.1142G>A n.2050G>A c.1020G>A (p.Met340Ile) c.1116G>A (p.Met372Ile) c.1506G>A (p.Met502Ile) c.2202G>A (p.Met734Ile) c.2076G>A (p.Met692Ile) c.1959G>A (p.Met653Ile) c.879G>A (p.Met293Ile) n.3106G>A n.3004G>A n.2417G>A n.2315G>A | |
| 9 | g.114406423A>C | CA374620153 | WHRN | c.512T>G (p.Met171Arg) c.2168T>G (p.Met723Arg) c.1141T>G n.2049T>G c.1019T>G (p.Met340Arg) c.1115T>G (p.Met372Arg) c.1505T>G (p.Met502Arg) c.2201T>G (p.Met734Arg) c.2075T>G (p.Met692Arg) c.1958T>G (p.Met653Arg) c.878T>G (p.Met293Arg) n.3105T>G n.3003T>G n.2416T>G n.2314T>G | |
| 9 | g.114406423A>G | CA374620154 | WHRN | c.512T>C (p.Met171Thr) c.2168T>C (p.Met723Thr) c.1141T>C n.2049T>C c.1019T>C (p.Met340Thr) c.1115T>C (p.Met372Thr) c.1505T>C (p.Met502Thr) c.2201T>C (p.Met734Thr) c.2075T>C (p.Met692Thr) c.1958T>C (p.Met653Thr) c.878T>C (p.Met293Thr) n.3105T>C n.3003T>C n.2416T>C n.2314T>C | |
| 9 | g.114406423A>T | CA374620155 | WHRN | c.512T>A (p.Met171Lys) c.2168T>A (p.Met723Lys) c.1141T>A n.2049T>A c.1019T>A (p.Met340Lys) c.1115T>A (p.Met372Lys) c.1505T>A (p.Met502Lys) c.2201T>A (p.Met734Lys) c.2075T>A (p.Met692Lys) c.1958T>A (p.Met653Lys) c.878T>A (p.Met293Lys) n.3105T>A n.3003T>A n.2416T>A n.2314T>A | |
| 9 | g.114406423_114406424insGGGAAAGCAAGG | CA2691372601 | WHRN | c.511_512insCCTTGCTTTCCC (p.Met171delinsThrLeuLeuSerLeu) c.2167_2168insCCTTGCTTTCCC (p.Met723delinsThrLeuLeuSerLeu) c.1140_1141insCCTTGCTTTCCC n.2048_2049insCCTTGCTTTCCC c.1018_1019insCCTTGCTTTCCC (p.Met340delinsThrLeuLeuSerLeu) c.1114_1115insCCTTGCTTTCCC (p.Met372delinsThrLeuLeuSerLeu) c.1504_1505insCCTTGCTTTCCC (p.Met502delinsThrLeuLeuSerLeu) c.2200_2201insCCTTGCTTTCCC (p.Met734delinsThrLeuLeuSerLeu) c.2074_2075insCCTTGCTTTCCC (p.Met692delinsThrLeuLeuSerLeu) c.1957_1958insCCTTGCTTTCCC (p.Met653delinsThrLeuLeuSerLeu) c.877_878insCCTTGCTTTCCC (p.Met293delinsThrLeuLeuSerLeu) n.3104_3105insCCTTGCTTTCCC n.3002_3003insCCTTGCTTTCCC n.2415_2416insCCTTGCTTTCCC n.2313_2314insCCTTGCTTTCCC | gnomAD v4 |
| 9 | g.114406424T>A | CA374620156 | WHRN | c.511A>T (p.Met171Leu) c.2167A>T (p.Met723Leu) c.1140A>T n.2048A>T c.1018A>T (p.Met340Leu) c.1114A>T (p.Met372Leu) c.1504A>T (p.Met502Leu) c.2200A>T (p.Met734Leu) c.2074A>T (p.Met692Leu) c.1957A>T (p.Met653Leu) c.877A>T (p.Met293Leu) n.3104A>T n.3002A>T n.2415A>T n.2313A>T |