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 |
|---|---|---|---|---|---|
| 10 | g.71687670_71687671delinsCT | CA1918826407 | CDH23 | c.2010_2011delinsCT (p.Thr670=) c.1441_1442delinsCT c.2025_2026delinsCT (p.Thr675=) c.785_786delinsCT c.2205_2206delinsCT (p.Thr735=) c.2139_2140delinsCT (p.Thr713=) c.2199_2200delinsCT (p.Thr733=) c.2145_2146delinsCT (p.Thr715=) c.2070_2071delinsCT (p.Thr690=) c.1665_1666delinsCT (p.Thr555=) c.1023_1024delinsCT (p.Thr341=) n.2448_2449delinsCT | |
| 10 | g.71687671T>A | CA377133223 | CDH23 | c.2011T>A (p.Phe671Ile) c.1442T>A c.2026T>A (p.Phe676Ile) c.786T>A c.2206T>A (p.Phe736Ile) c.2140T>A (p.Phe714Ile) c.2200T>A (p.Phe734Ile) c.2146T>A (p.Phe716Ile) c.2071T>A (p.Phe691Ile) c.1666T>A (p.Phe556Ile) c.1024T>A (p.Phe342Ile) n.2449T>A | |
| 10 | g.71687671T>C | CA377133224 | CDH23 | c.2011T>C (p.Phe671Leu) c.1442T>C c.2026T>C (p.Phe676Leu) c.786T>C c.2206T>C (p.Phe736Leu) c.2140T>C (p.Phe714Leu) c.2200T>C (p.Phe734Leu) c.2146T>C (p.Phe716Leu) c.2071T>C (p.Phe691Leu) c.1666T>C (p.Phe556Leu) c.1024T>C (p.Phe342Leu) n.2449T>C | |
| 10 | g.71687671T>G | CA377133225 | CDH23 | c.2011T>G (p.Phe671Val) c.1442T>G c.2026T>G (p.Phe676Val) c.786T>G c.2206T>G (p.Phe736Val) c.2140T>G (p.Phe714Val) c.2200T>G (p.Phe734Val) c.2146T>G (p.Phe716Val) c.2071T>G (p.Phe691Val) c.1666T>G (p.Phe556Val) c.1024T>G (p.Phe342Val) n.2449T>G | |
| 10 | g.71687672del | CA261775 | CDH23 | c.2012del (p.Phe671SerfsTer23) c.1443del c.2027del (p.Phe676SerfsTer23) c.787del c.2207del (p.Phe736SerfsTer23) c.2141del (p.Phe714SerfsTer23) c.2201del (p.Phe734SerfsTer23) c.2147del (p.Phe716SerfsTer23) c.2072del (p.Phe691SerfsTer23) c.1667del (p.Phe556SerfsTer23) c.1025del (p.Phe342SerfsTer23) n.2450del | ClinVar dbSNP |
| 10 | g.71687672T>A | CA377133228 | CDH23 | c.2012T>A (p.Phe671Tyr) c.1443T>A c.2027T>A (p.Phe676Tyr) c.787T>A c.2207T>A (p.Phe736Tyr) c.2141T>A (p.Phe714Tyr) c.2201T>A (p.Phe734Tyr) c.2147T>A (p.Phe716Tyr) c.2072T>A (p.Phe691Tyr) c.1667T>A (p.Phe556Tyr) c.1025T>A (p.Phe342Tyr) n.2450T>A | |
| 10 | g.71687672T>C | CA377133232 | CDH23 | c.2012T>C (p.Phe671Ser) c.1443T>C c.2027T>C (p.Phe676Ser) c.787T>C c.2207T>C (p.Phe736Ser) c.2141T>C (p.Phe714Ser) c.2201T>C (p.Phe734Ser) c.2147T>C (p.Phe716Ser) c.2072T>C (p.Phe691Ser) c.1667T>C (p.Phe556Ser) c.1025T>C (p.Phe342Ser) n.2450T>C | |
| 10 | g.71687672T>G | CA377133230 | CDH23 | c.2012T>G (p.Phe671Cys) c.1443T>G c.2027T>G (p.Phe676Cys) c.787T>G c.2207T>G (p.Phe736Cys) c.2141T>G (p.Phe714Cys) c.2201T>G (p.Phe734Cys) c.2147T>G (p.Phe716Cys) c.2072T>G (p.Phe691Cys) c.1667T>G (p.Phe556Cys) c.1025T>G (p.Phe342Cys) n.2450T>G | |
| 10 | g.71687673C>A | CA377133234 | CDH23 | c.2013C>A (p.Phe671Leu) c.1444C>A c.2028C>A (p.Phe676Leu) c.788C>A c.2208C>A (p.Phe736Leu) c.2142C>A (p.Phe714Leu) c.2202C>A (p.Phe734Leu) c.2148C>A (p.Phe716Leu) c.2073C>A (p.Phe691Leu) c.1668C>A (p.Phe556Leu) c.1026C>A (p.Phe342Leu) n.2451C>A | |
| 10 | g.71687673C>G | CA377133236 | CDH23 | c.2013C>G (p.Phe671Leu) c.1444C>G c.2028C>G (p.Phe676Leu) c.788C>G c.2208C>G (p.Phe736Leu) c.2142C>G (p.Phe714Leu) c.2202C>G (p.Phe734Leu) c.2148C>G (p.Phe716Leu) c.2073C>G (p.Phe691Leu) c.1668C>G (p.Phe556Leu) c.1026C>G (p.Phe342Leu) n.2451C>G | |
| 10 | g.71687673C>T | CA470059737 | CDH23 | c.2013C>T (p.Phe671=) c.1444C>T c.2028C>T (p.Phe676=) c.788C>T c.2208C>T (p.Phe736=) c.2142C>T (p.Phe714=) c.2202C>T (p.Phe734=) c.2148C>T (p.Phe716=) c.2073C>T (p.Phe691=) c.1668C>T (p.Phe556=) c.1026C>T (p.Phe342=) n.2451C>T | |
| 10 | g.71687674A>C | CA377133239 | CDH23 | c.2014A>C (p.Ser672Arg) c.1445A>C c.2029A>C (p.Ser677Arg) c.789A>C c.2209A>C (p.Ser737Arg) c.2143A>C (p.Ser715Arg) c.2203A>C (p.Ser735Arg) c.2149A>C (p.Ser717Arg) c.2074A>C (p.Ser692Arg) c.1669A>C (p.Ser557Arg) c.1027A>C (p.Ser343Arg) n.2452A>C | |
| 10 | g.71687674A>G | CA377133241 | CDH23 | c.2014A>G (p.Ser672Gly) c.1445A>G c.2029A>G (p.Ser677Gly) c.789A>G c.2209A>G (p.Ser737Gly) c.2143A>G (p.Ser715Gly) c.2203A>G (p.Ser735Gly) c.2149A>G (p.Ser717Gly) c.2074A>G (p.Ser692Gly) c.1669A>G (p.Ser557Gly) c.1027A>G (p.Ser343Gly) n.2452A>G | |
| 10 | g.71687674A>T | CA377133242 | CDH23 | c.2014A>T (p.Ser672Cys) c.1445A>T c.2029A>T (p.Ser677Cys) c.789A>T c.2209A>T (p.Ser737Cys) c.2143A>T (p.Ser715Cys) c.2203A>T (p.Ser735Cys) c.2149A>T (p.Ser717Cys) c.2074A>T (p.Ser692Cys) c.1669A>T (p.Ser557Cys) c.1027A>T (p.Ser343Cys) n.2452A>T | |
| 10 | g.71687675G>A | CA377133245 | CDH23 | c.2015G>A (p.Ser672Asn) c.1446G>A c.2030G>A (p.Ser677Asn) c.790G>A c.2210G>A (p.Ser737Asn) c.2144G>A (p.Ser715Asn) c.2204G>A (p.Ser735Asn) c.2150G>A (p.Ser717Asn) c.2075G>A (p.Ser692Asn) c.1670G>A (p.Ser557Asn) c.1028G>A (p.Ser343Asn) n.2453G>A | |
| 10 | g.71687675G>C | CA377133248 | CDH23 | c.2015G>C (p.Ser672Thr) c.1446G>C c.2030G>C (p.Ser677Thr) c.790G>C c.2210G>C (p.Ser737Thr) c.2144G>C (p.Ser715Thr) c.2204G>C (p.Ser735Thr) c.2150G>C (p.Ser717Thr) c.2075G>C (p.Ser692Thr) c.1670G>C (p.Ser557Thr) c.1028G>C (p.Ser343Thr) n.2453G>C | dbSNP |
| 10 | g.71687675G>T | CA377133250 | CDH23 | c.2015G>T (p.Ser672Ile) c.1446G>T c.2030G>T (p.Ser677Ile) c.790G>T c.2210G>T (p.Ser737Ile) c.2144G>T (p.Ser715Ile) c.2204G>T (p.Ser735Ile) c.2150G>T (p.Ser717Ile) c.2075G>T (p.Ser692Ile) c.1670G>T (p.Ser557Ile) c.1028G>T (p.Ser343Ile) n.2453G>T | |
| 10 | g.71687676C>A | CA377133254 | CDH23 | c.2016C>A (p.Ser672Arg) c.1447C>A c.2031C>A (p.Ser677Arg) c.791C>A c.2211C>A (p.Ser737Arg) c.2145C>A (p.Ser715Arg) c.2205C>A (p.Ser735Arg) c.2151C>A (p.Ser717Arg) c.2076C>A (p.Ser692Arg) c.1671C>A (p.Ser557Arg) c.1029C>A (p.Ser343Arg) n.2454C>A | |
| 10 | g.71687676C= | CA1918826408 | CDH23 | c.2016C= (p.Ser672=) c.1447C= c.2031C= (p.Ser677=) c.791C= c.2211C= (p.Ser737=) c.2145C= (p.Ser715=) c.2205C= (p.Ser735=) c.2151C= (p.Ser717=) c.2076C= (p.Ser692=) c.1671C= (p.Ser557=) c.1029C= (p.Ser343=) n.2454C= | |
| 10 | g.71687676C>G | CA377133255 | CDH23 | c.2016C>G (p.Ser672Arg) c.1447C>G c.2031C>G (p.Ser677Arg) c.791C>G c.2211C>G (p.Ser737Arg) c.2145C>G (p.Ser715Arg) c.2205C>G (p.Ser735Arg) c.2151C>G (p.Ser717Arg) c.2076C>G (p.Ser692Arg) c.1671C>G (p.Ser557Arg) c.1029C>G (p.Ser343Arg) n.2454C>G | ClinVar dbSNP gnomAD v4 |
| 10 | g.71687676C>T | CA470059741 | CDH23 | c.2016C>T (p.Ser672=) c.1447C>T c.2031C>T (p.Ser677=) c.791C>T c.2211C>T (p.Ser737=) c.2145C>T (p.Ser715=) c.2205C>T (p.Ser735=) c.2151C>T (p.Ser717=) c.2076C>T (p.Ser692=) c.1671C>T (p.Ser557=) c.1029C>T (p.Ser343=) n.2454C>T | |
| 10 | g.71687677A>C | CA377133261 | CDH23 | c.2017A>C (p.Lys673Gln) c.1448A>C c.2032A>C (p.Lys678Gln) c.792A>C c.2212A>C (p.Lys738Gln) c.2146A>C (p.Lys716Gln) c.2206A>C (p.Lys736Gln) c.2152A>C (p.Lys718Gln) c.2077A>C (p.Lys693Gln) c.1672A>C (p.Lys558Gln) c.1030A>C (p.Lys344Gln) n.2455A>C | |
| 10 | g.71687677A>G | CA377133256 | CDH23 | c.2017A>G (p.Lys673Glu) c.1448A>G c.2032A>G (p.Lys678Glu) c.792A>G c.2212A>G (p.Lys738Glu) c.2146A>G (p.Lys716Glu) c.2206A>G (p.Lys736Glu) c.2152A>G (p.Lys718Glu) c.2077A>G (p.Lys693Glu) c.1672A>G (p.Lys558Glu) c.1030A>G (p.Lys344Glu) n.2455A>G | |
| 10 | g.71687677A>T | CA377133258 | CDH23 | c.2017A>T (p.Lys673Ter) c.1448A>T c.2032A>T (p.Lys678Ter) c.792A>T c.2212A>T (p.Lys738Ter) c.2146A>T (p.Lys716Ter) c.2206A>T (p.Lys736Ter) c.2152A>T (p.Lys718Ter) c.2077A>T (p.Lys693Ter) c.1672A>T (p.Lys558Ter) c.1030A>T (p.Lys344Ter) n.2455A>T | |
| 10 | g.71687678A>C | CA377133263 | CDH23 | c.2018A>C (p.Lys673Thr) c.1449A>C c.2033A>C (p.Lys678Thr) c.793A>C c.2213A>C (p.Lys738Thr) c.2147A>C (p.Lys716Thr) c.2207A>C (p.Lys736Thr) c.2153A>C (p.Lys718Thr) c.2078A>C (p.Lys693Thr) c.1673A>C (p.Lys558Thr) c.1031A>C (p.Lys344Thr) n.2456A>C | |
| 10 | g.71687678A>G | CA377133266 | CDH23 | c.2018A>G (p.Lys673Arg) c.1449A>G c.2033A>G (p.Lys678Arg) c.793A>G c.2213A>G (p.Lys738Arg) c.2147A>G (p.Lys716Arg) c.2207A>G (p.Lys736Arg) c.2153A>G (p.Lys718Arg) c.2078A>G (p.Lys693Arg) c.1673A>G (p.Lys558Arg) c.1031A>G (p.Lys344Arg) n.2456A>G | |
| 10 | g.71687678A>T | CA377133268 | CDH23 | c.2018A>T (p.Lys673Met) c.1449A>T c.2033A>T (p.Lys678Met) c.793A>T c.2213A>T (p.Lys738Met) c.2147A>T (p.Lys716Met) c.2207A>T (p.Lys736Met) c.2153A>T (p.Lys718Met) c.2078A>T (p.Lys693Met) c.1673A>T (p.Lys558Met) c.1031A>T (p.Lys344Met) n.2456A>T | |
| 10 | g.71687679G>A | CA470059748 | CDH23 | c.2019G>A (p.Lys673=) c.1450G>A c.2034G>A (p.Lys678=) c.794G>A c.2214G>A (p.Lys738=) c.2148G>A (p.Lys716=) c.2208G>A (p.Lys736=) c.2154G>A (p.Lys718=) c.2079G>A (p.Lys693=) c.1674G>A (p.Lys558=) c.1032G>A (p.Lys344=) n.2457G>A | |
| 10 | g.71687679G>C | CA377133269 | CDH23 | c.2019G>C (p.Lys673Asn) c.1450G>C c.2034G>C (p.Lys678Asn) c.794G>C c.2214G>C (p.Lys738Asn) c.2148G>C (p.Lys716Asn) c.2208G>C (p.Lys736Asn) c.2154G>C (p.Lys718Asn) c.2079G>C (p.Lys693Asn) c.1674G>C (p.Lys558Asn) c.1032G>C (p.Lys344Asn) n.2457G>C | |
| 10 | g.71687679G>T | CA377133272 | CDH23 | c.2019G>T (p.Lys673Asn) c.1450G>T c.2034G>T (p.Lys678Asn) c.794G>T c.2214G>T (p.Lys738Asn) c.2148G>T (p.Lys716Asn) c.2208G>T (p.Lys736Asn) c.2154G>T (p.Lys718Asn) c.2079G>T (p.Lys693Asn) c.1674G>T (p.Lys558Asn) c.1032G>T (p.Lys344Asn) n.2457G>T | gnomAD v4 |
| 10 | g.71687682_71687685del | CA2609541949 | CDH23 | c.2022_2025del (p.Ala675ThrfsTer18) c.1453_1456del c.2037_2040del (p.Ala680ThrfsTer18) c.797_800del c.2217_2220del (p.Ala740ThrfsTer18) c.2151_2154del (p.Ala718ThrfsTer18) c.2211_2214del (p.Ala738ThrfsTer18) c.2157_2160del (p.Ala720ThrfsTer18) c.2082_2085del (p.Ala695ThrfsTer18) c.1677_1680del (p.Ala560ThrfsTer18) c.1035_1038del (p.Ala346ThrfsTer18) n.2460_2463del | gnomAD v4 |
| 10 | g.71687680C>A | CA377133273 | CDH23 | c.2020C>A (p.Pro674Thr) c.1451C>A c.2035C>A (p.Pro679Thr) c.795C>A c.2215C>A (p.Pro739Thr) c.2149C>A (p.Pro717Thr) c.2209C>A (p.Pro737Thr) c.2155C>A (p.Pro719Thr) c.2080C>A (p.Pro694Thr) c.1675C>A (p.Pro559Thr) c.1033C>A (p.Pro345Thr) n.2458C>A | |
| 10 | g.71687680C>G | CA377133275 | CDH23 | c.2020C>G (p.Pro674Ala) c.1451C>G c.2035C>G (p.Pro679Ala) c.795C>G c.2215C>G (p.Pro739Ala) c.2149C>G (p.Pro717Ala) c.2209C>G (p.Pro737Ala) c.2155C>G (p.Pro719Ala) c.2080C>G (p.Pro694Ala) c.1675C>G (p.Pro559Ala) c.1033C>G (p.Pro345Ala) n.2458C>G | |
| 10 | g.71687680C>T | CA377133279 | CDH23 | c.2020C>T (p.Pro674Ser) c.1451C>T c.2035C>T (p.Pro679Ser) c.795C>T c.2215C>T (p.Pro739Ser) c.2149C>T (p.Pro717Ser) c.2209C>T (p.Pro737Ser) c.2155C>T (p.Pro719Ser) c.2080C>T (p.Pro694Ser) c.1675C>T (p.Pro559Ser) c.1033C>T (p.Pro345Ser) n.2458C>T | |
| 10 | g.71687681C>A | CA377133283 | CDH23 | c.2021C>A (p.Pro674His) c.1452C>A c.2036C>A (p.Pro679His) c.796C>A c.2216C>A (p.Pro739His) c.2150C>A (p.Pro717His) c.2210C>A (p.Pro737His) c.2156C>A (p.Pro719His) c.2081C>A (p.Pro694His) c.1676C>A (p.Pro559His) c.1034C>A (p.Pro345His) n.2459C>A | gnomAD v4 |
| 10 | g.71687681C>G | CA377133291 | CDH23 | c.2021C>G (p.Pro674Arg) c.1452C>G c.2036C>G (p.Pro679Arg) c.796C>G c.2216C>G (p.Pro739Arg) c.2150C>G (p.Pro717Arg) c.2210C>G (p.Pro737Arg) c.2156C>G (p.Pro719Arg) c.2081C>G (p.Pro694Arg) c.1676C>G (p.Pro559Arg) c.1034C>G (p.Pro345Arg) n.2459C>G | |
| 10 | g.71687681C>T | CA377133286 | CDH23 | c.2021C>T (p.Pro674Leu) c.1452C>T c.2036C>T (p.Pro679Leu) c.796C>T c.2216C>T (p.Pro739Leu) c.2150C>T (p.Pro717Leu) c.2210C>T (p.Pro737Leu) c.2156C>T (p.Pro719Leu) c.2081C>T (p.Pro694Leu) c.1676C>T (p.Pro559Leu) c.1034C>T (p.Pro345Leu) n.2459C>T | gnomAD v4 COSMIC COSMIC COSMIC |
| 10 | g.71687682C>A | CA470059754 | CDH23 | c.2022C>A (p.Pro674=) c.1453C>A c.2037C>A (p.Pro679=) c.797C>A c.2217C>A (p.Pro739=) c.2151C>A (p.Pro717=) c.2211C>A (p.Pro737=) c.2157C>A (p.Pro719=) c.2082C>A (p.Pro694=) c.1677C>A (p.Pro559=) c.1035C>A (p.Pro345=) n.2460C>A | gnomAD v4 |
| 10 | g.71687682C= | CA1918826409 | CDH23 | c.2022C= (p.Pro674=) c.1453C= c.2037C= (p.Pro679=) c.797C= c.2217C= (p.Pro739=) c.2151C= (p.Pro717=) c.2211C= (p.Pro737=) c.2157C= (p.Pro719=) c.2082C= (p.Pro694=) c.1677C= (p.Pro559=) c.1035C= (p.Pro345=) n.2460C= | |
| 10 | g.71687682C>G | CA470059755 | CDH23 | c.2022C>G (p.Pro674=) c.1453C>G c.2037C>G (p.Pro679=) c.797C>G c.2217C>G (p.Pro739=) c.2151C>G (p.Pro717=) c.2211C>G (p.Pro737=) c.2157C>G (p.Pro719=) c.2082C>G (p.Pro694=) c.1677C>G (p.Pro559=) c.1035C>G (p.Pro345=) n.2460C>G | |
| 10 | g.71687682C>T | CA5544049 | CDH23 | c.2022C>T (p.Pro674=) c.1453C>T c.2037C>T (p.Pro679=) c.797C>T c.2217C>T (p.Pro739=) c.2151C>T (p.Pro717=) c.2211C>T (p.Pro737=) c.2157C>T (p.Pro719=) c.2082C>T (p.Pro694=) c.1677C>T (p.Pro559=) c.1035C>T (p.Pro345=) n.2460C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71687683G>A | CA5544050 | CDH23 | c.2023G>A (p.Ala675Thr) c.1454G>A c.2038G>A (p.Ala680Thr) c.798G>A c.2218G>A (p.Ala740Thr) c.2152G>A (p.Ala718Thr) c.2212G>A (p.Ala738Thr) c.2158G>A (p.Ala720Thr) c.2083G>A (p.Ala695Thr) c.1678G>A (p.Ala560Thr) c.1036G>A (p.Ala346Thr) n.2461G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.71687683G>C | CA377133306 | CDH23 | c.2023G>C (p.Ala675Pro) c.1454G>C c.2038G>C (p.Ala680Pro) c.798G>C c.2218G>C (p.Ala740Pro) c.2152G>C (p.Ala718Pro) c.2212G>C (p.Ala738Pro) c.2158G>C (p.Ala720Pro) c.2083G>C (p.Ala695Pro) c.1678G>C (p.Ala560Pro) c.1036G>C (p.Ala346Pro) n.2461G>C | dbSNP |
| 10 | g.71687683G= | CA1918826410 | CDH23 | c.2023G= (p.Ala675=) c.1454G= c.2038G= (p.Ala680=) c.798G= c.2218G= (p.Ala740=) c.2152G= (p.Ala718=) c.2212G= (p.Ala738=) c.2158G= (p.Ala720=) c.2083G= (p.Ala695=) c.1678G= (p.Ala560=) c.1036G= (p.Ala346=) n.2461G= | |
| 10 | g.71687683G>T | CA209436081 | CDH23 | c.2023G>T (p.Ala675Ser) c.1454G>T c.2038G>T (p.Ala680Ser) c.798G>T c.2218G>T (p.Ala740Ser) c.2152G>T (p.Ala718Ser) c.2212G>T (p.Ala738Ser) c.2158G>T (p.Ala720Ser) c.2083G>T (p.Ala695Ser) c.1678G>T (p.Ala560Ser) c.1036G>T (p.Ala346Ser) n.2461G>T | dbSNP gnomAD v4 |
| 10 | g.71687684C>A | CA377133312 | CDH23 | c.2024C>A (p.Ala675Asp) c.1455C>A c.2039C>A (p.Ala680Asp) c.799C>A c.2219C>A (p.Ala740Asp) c.2153C>A (p.Ala718Asp) c.2213C>A (p.Ala738Asp) c.2159C>A (p.Ala720Asp) c.2084C>A (p.Ala695Asp) c.1679C>A (p.Ala560Asp) c.1037C>A (p.Ala346Asp) n.2462C>A | |
| 10 | g.71687684C= | CA1918826411 | CDH23 | c.2024C= (p.Ala675=) c.1455C= c.2039C= (p.Ala680=) c.799C= c.2219C= (p.Ala740=) c.2153C= (p.Ala718=) c.2213C= (p.Ala738=) c.2159C= (p.Ala720=) c.2084C= (p.Ala695=) c.1679C= (p.Ala560=) c.1037C= (p.Ala346=) n.2462C= | |
| 10 | g.71687684C>G | CA377133347 | CDH23 | c.2024C>G (p.Ala675Gly) c.1455C>G c.2039C>G (p.Ala680Gly) c.799C>G c.2219C>G (p.Ala740Gly) c.2153C>G (p.Ala718Gly) c.2213C>G (p.Ala738Gly) c.2159C>G (p.Ala720Gly) c.2084C>G (p.Ala695Gly) c.1679C>G (p.Ala560Gly) c.1037C>G (p.Ala346Gly) n.2462C>G | |
| 10 | g.71687684C>T | CA5544051 | CDH23 | c.2024C>T (p.Ala675Val) c.1455C>T c.2039C>T (p.Ala680Val) c.799C>T c.2219C>T (p.Ala740Val) c.2153C>T (p.Ala718Val) c.2213C>T (p.Ala738Val) c.2159C>T (p.Ala720Val) c.2084C>T (p.Ala695Val) c.1679C>T (p.Ala560Val) c.1037C>T (p.Ala346Val) n.2462C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.71687685C>A | CA470059762 | CDH23 | c.2025C>A (p.Ala675=) c.1456C>A c.2040C>A (p.Ala680=) c.800C>A c.2220C>A (p.Ala740=) c.2154C>A (p.Ala718=) c.2214C>A (p.Ala738=) c.2160C>A (p.Ala720=) c.2085C>A (p.Ala695=) c.1680C>A (p.Ala560=) c.1038C>A (p.Ala346=) n.2463C>A |