Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.42730663A>CCA489895214CDAN1c.2109T>G (p.Ala703=)
c.*1287T>G (n.*1287T>G)
c.102T>G (p.Ala34=)
c.2112T>G (p.Ala704=)
c.2136T>G (p.Ala712=)
c.2133T>G (p.Ala711=)
c.1101T>G (p.Ala367=)
c.1353T>G (p.Ala451=)
n.2109T>G
n.2166T>G
n.2129T>G
15g.42730663A>GCA489895215CDAN1c.2109T>C (p.Ala703=)
c.*1287T>C (n.*1287T>C)
c.102T>C (p.Ala34=)
c.2112T>C (p.Ala704=)
c.2136T>C (p.Ala712=)
c.2133T>C (p.Ala711=)
c.1101T>C (p.Ala367=)
c.1353T>C (p.Ala451=)
n.2109T>C
n.2166T>C
n.2129T>C
15g.42730663A>TCA489895216CDAN1c.2109T>A (p.Ala703=)
c.*1287T>A (n.*1287T>A)
c.102T>A (p.Ala34=)
c.2112T>A (p.Ala704=)
c.2136T>A (p.Ala712=)
c.2133T>A (p.Ala711=)
c.1101T>A (p.Ala367=)
c.1353T>A (p.Ala451=)
n.2109T>A
n.2166T>A
n.2129T>A
15g.42730664G>ACA392042334CDAN1c.2108C>T (p.Ala703Val)
c.*1286C>T (n.*1286C>T)
c.101C>T (p.Ala34Val)
c.2111C>T (p.Ala704Val)
c.2135C>T (p.Ala712Val)
c.2132C>T (p.Ala711Val)
c.1100C>T (p.Ala367Val)
c.1352C>T (p.Ala451Val)
n.2108C>T
n.2165C>T
n.2128C>T
 COSMIC
15g.42730664G>CCA392042336CDAN1c.2108C>G (p.Ala703Gly)
c.*1286C>G (n.*1286C>G)
c.101C>G (p.Ala34Gly)
c.2111C>G (p.Ala704Gly)
c.2135C>G (p.Ala712Gly)
c.2132C>G (p.Ala711Gly)
c.1100C>G (p.Ala367Gly)
c.1352C>G (p.Ala451Gly)
n.2108C>G
n.2165C>G
n.2128C>G
15g.42730664G>TCA392042337CDAN1c.2108C>A (p.Ala703Asp)
c.*1286C>A (n.*1286C>A)
c.101C>A (p.Ala34Asp)
c.2111C>A (p.Ala704Asp)
c.2135C>A (p.Ala712Asp)
c.2132C>A (p.Ala711Asp)
c.1100C>A (p.Ala367Asp)
c.1352C>A (p.Ala451Asp)
n.2108C>A
n.2165C>A
n.2128C>A
15g.42730665C>ACA392042340CDAN1c.2107G>T (p.Ala703Ser)
c.*1285G>T (n.*1285G>T)
c.100G>T (p.Ala34Ser)
c.2110G>T (p.Ala704Ser)
c.2134G>T (p.Ala712Ser)
c.2131G>T (p.Ala711Ser)
c.1099G>T (p.Ala367Ser)
c.1351G>T (p.Ala451Ser)
n.2107G>T
n.2164G>T
n.2127G>T
15g.42730665C>GCA392042341CDAN1c.2107G>C (p.Ala703Pro)
c.*1285G>C (n.*1285G>C)
c.100G>C (p.Ala34Pro)
c.2110G>C (p.Ala704Pro)
c.2134G>C (p.Ala712Pro)
c.2131G>C (p.Ala711Pro)
c.1099G>C (p.Ala367Pro)
c.1351G>C (p.Ala451Pro)
n.2107G>C
n.2164G>C
n.2127G>C
15g.42730665C>TCA392042343CDAN1c.2107G>A (p.Ala703Thr)
c.*1285G>A (n.*1285G>A)
c.100G>A (p.Ala34Thr)
c.2110G>A (p.Ala704Thr)
c.2134G>A (p.Ala712Thr)
c.2131G>A (p.Ala711Thr)
c.1099G>A (p.Ala367Thr)
c.1351G>A (p.Ala451Thr)
n.2107G>A
n.2164G>A
n.2127G>A
15g.42730666A>CCA392042344CDAN1c.2106T>G (p.Phe702Leu)
c.*1284T>G (n.*1284T>G)
c.99T>G (p.Phe33Leu)
c.2109T>G (p.Phe703Leu)
c.2133T>G (p.Phe711Leu)
c.2130T>G (p.Phe710Leu)
c.1098T>G (p.Phe366Leu)
c.1350T>G (p.Phe450Leu)
n.2106T>G
n.2163T>G
n.2126T>G
15g.42730666A>GCA489895217CDAN1c.2106T>C (p.Phe702=)
c.*1284T>C (n.*1284T>C)
c.99T>C (p.Phe33=)
c.2109T>C (p.Phe703=)
c.2133T>C (p.Phe711=)
c.2130T>C (p.Phe710=)
c.1098T>C (p.Phe366=)
c.1350T>C (p.Phe450=)
n.2106T>C
n.2163T>C
n.2126T>C
 gnomAD v4
15g.42730666A>TCA392042345CDAN1c.2106T>A (p.Phe702Leu)
c.*1284T>A (n.*1284T>A)
c.99T>A (p.Phe33Leu)
c.2109T>A (p.Phe703Leu)
c.2133T>A (p.Phe711Leu)
c.2130T>A (p.Phe710Leu)
c.1098T>A (p.Phe366Leu)
c.1350T>A (p.Phe450Leu)
n.2106T>A
n.2163T>A
n.2126T>A
15g.42730667A>CCA392042348CDAN1c.2105T>G (p.Phe702Cys)
c.*1283T>G (n.*1283T>G)
c.98T>G (p.Phe33Cys)
c.2108T>G (p.Phe703Cys)
c.2132T>G (p.Phe711Cys)
c.2129T>G (p.Phe710Cys)
c.1097T>G (p.Phe366Cys)
c.1349T>G (p.Phe450Cys)
n.2105T>G
n.2162T>G
n.2125T>G
15g.42730667A>GCA392042349CDAN1c.2105T>C (p.Phe702Ser)
c.*1283T>C (n.*1283T>C)
c.98T>C (p.Phe33Ser)
c.2108T>C (p.Phe703Ser)
c.2132T>C (p.Phe711Ser)
c.2129T>C (p.Phe710Ser)
c.1097T>C (p.Phe366Ser)
c.1349T>C (p.Phe450Ser)
n.2105T>C
n.2162T>C
n.2125T>C
15g.42730667A>TCA392042352CDAN1c.2105T>A (p.Phe702Tyr)
c.*1283T>A (n.*1283T>A)
c.98T>A (p.Phe33Tyr)
c.2108T>A (p.Phe703Tyr)
c.2132T>A (p.Phe711Tyr)
c.2129T>A (p.Phe710Tyr)
c.1097T>A (p.Phe366Tyr)
c.1349T>A (p.Phe450Tyr)
n.2105T>A
n.2162T>A
n.2125T>A
15g.42730668A>CCA392042360CDAN1c.2104T>G (p.Phe702Val)
c.*1282T>G (n.*1282T>G)
c.97T>G (p.Phe33Val)
c.2107T>G (p.Phe703Val)
c.2131T>G (p.Phe711Val)
c.2128T>G (p.Phe710Val)
c.1096T>G (p.Phe366Val)
c.1348T>G (p.Phe450Val)
n.2104T>G
n.2161T>G
n.2124T>G
15g.42730668A>GCA392042354CDAN1c.2104T>C (p.Phe702Leu)
c.*1282T>C (n.*1282T>C)
c.97T>C (p.Phe33Leu)
c.2107T>C (p.Phe703Leu)
c.2131T>C (p.Phe711Leu)
c.2128T>C (p.Phe710Leu)
c.1096T>C (p.Phe366Leu)
c.1348T>C (p.Phe450Leu)
n.2104T>C
n.2161T>C
n.2124T>C
15g.42730668A>TCA392042357CDAN1c.2104T>A (p.Phe702Ile)
c.*1282T>A (n.*1282T>A)
c.97T>A (p.Phe33Ile)
c.2107T>A (p.Phe703Ile)
c.2131T>A (p.Phe711Ile)
c.2128T>A (p.Phe710Ile)
c.1096T>A (p.Phe366Ile)
c.1348T>A (p.Phe450Ile)
n.2104T>A
n.2161T>A
n.2124T>A
15g.42730669G>ACA7515819CDAN1c.2103C>T (p.Ser701=)
c.*1281C>T (n.*1281C>T)
c.96C>T (p.Ser32=)
c.2106C>T (p.Ser702=)
c.2130C>T (p.Ser710=)
c.2127C>T (p.Ser709=)
c.1095C>T (p.Ser365=)
c.1347C>T (p.Ser449=)
n.2103C>T
n.2160C>T
n.2123C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730669G>CCA489895218CDAN1c.2103C>G (p.Ser701=)
c.*1281C>G (n.*1281C>G)
c.96C>G (p.Ser32=)
c.2106C>G (p.Ser702=)
c.2130C>G (p.Ser710=)
c.2127C>G (p.Ser709=)
c.1095C>G (p.Ser365=)
c.1347C>G (p.Ser449=)
n.2103C>G
n.2160C>G
n.2123C>G
15g.42730669G=CA2172870111CDAN1c.2103C= (p.Ser701=)
c.*1281C= (n.*1281C=)
c.96C= (p.Ser32=)
c.2106C= (p.Ser702=)
c.2130C= (p.Ser710=)
c.2127C= (p.Ser709=)
c.1095C= (p.Ser365=)
c.1347C= (p.Ser449=)
n.2103C=
n.2160C=
n.2123C=
15g.42730669G>TCA489895219CDAN1c.2103C>A (p.Ser701=)
c.*1281C>A (n.*1281C>A)
c.96C>A (p.Ser32=)
c.2106C>A (p.Ser702=)
c.2130C>A (p.Ser710=)
c.2127C>A (p.Ser709=)
c.1095C>A (p.Ser365=)
c.1347C>A (p.Ser449=)
n.2103C>A
n.2160C>A
n.2123C>A
15g.42730670G>ACA392042367CDAN1c.2102C>T (p.Ser701Phe)
c.*1280C>T (n.*1280C>T)
c.95C>T (p.Ser32Phe)
c.2105C>T (p.Ser702Phe)
c.2129C>T (p.Ser710Phe)
c.2126C>T (p.Ser709Phe)
c.1094C>T (p.Ser365Phe)
c.1346C>T (p.Ser449Phe)
n.2102C>T
n.2159C>T
n.2122C>T
 dbSNP gnomAD v4
15g.42730670G>CCA392042365CDAN1c.2102C>G (p.Ser701Cys)
c.*1280C>G (n.*1280C>G)
c.95C>G (p.Ser32Cys)
c.2105C>G (p.Ser702Cys)
c.2129C>G (p.Ser710Cys)
c.2126C>G (p.Ser709Cys)
c.1094C>G (p.Ser365Cys)
c.1346C>G (p.Ser449Cys)
n.2102C>G
n.2159C>G
n.2122C>G
 dbSNP gnomAD v2 gnomAD v4
15g.42730670G=CA2172870112CDAN1c.2102C= (p.Ser701=)
c.*1280C= (n.*1280C=)
c.95C= (p.Ser32=)
c.2105C= (p.Ser702=)
c.2129C= (p.Ser710=)
c.2126C= (p.Ser709=)
c.1094C= (p.Ser365=)
c.1346C= (p.Ser449=)
n.2102C=
n.2159C=
n.2122C=
15g.42730670G>TCA392042370CDAN1c.2102C>A (p.Ser701Tyr)
c.*1280C>A (n.*1280C>A)
c.95C>A (p.Ser32Tyr)
c.2105C>A (p.Ser702Tyr)
c.2129C>A (p.Ser710Tyr)
c.2126C>A (p.Ser709Tyr)
c.1094C>A (p.Ser365Tyr)
c.1346C>A (p.Ser449Tyr)
n.2102C>A
n.2159C>A
n.2122C>A
15g.42730672_42730675delCA2628073581CDAN1c.2099_2102del (p.Leu700ProfsTer?)
c.*1277_*1280del (n.*1277_*1280del)
c.92_95del (p.Leu31ProfsTer?)
c.2102_2105del (p.Leu701ProfsTer?)
c.2126_2129del (p.Leu709ProfsTer?)
c.2123_2126del (p.Leu708ProfsTer?)
c.1091_1094del (p.Leu364ProfsTer?)
c.1343_1346del (p.Leu448ProfsTer?)
n.2099_2102del
n.2156_2159del
n.2119_2122del
 gnomAD v4
15g.42730671A=CA2172870113CDAN1c.2101T= (p.Ser701=)
c.*1279T= (n.*1279T=)
c.94T= (p.Ser32=)
c.2104T= (p.Ser702=)
c.2128T= (p.Ser710=)
c.2125T= (p.Ser709=)
c.1093T= (p.Ser365=)
c.1345T= (p.Ser449=)
n.2101T=
n.2158T=
n.2121T=
15g.42730671A>CCA7515820CDAN1c.2101T>G (p.Ser701Ala)
c.*1279T>G (n.*1279T>G)
c.94T>G (p.Ser32Ala)
c.2104T>G (p.Ser702Ala)
c.2128T>G (p.Ser710Ala)
c.2125T>G (p.Ser709Ala)
c.1093T>G (p.Ser365Ala)
c.1345T>G (p.Ser449Ala)
n.2101T>G
n.2158T>G
n.2121T>G
 dbSNP ExAC gnomAD v2
15g.42730671A>GCA269904742CDAN1c.2101T>C (p.Ser701Pro)
c.*1279T>C (n.*1279T>C)
c.94T>C (p.Ser32Pro)
c.2104T>C (p.Ser702Pro)
c.2128T>C (p.Ser710Pro)
c.2125T>C (p.Ser709Pro)
c.1093T>C (p.Ser365Pro)
c.1345T>C (p.Ser449Pro)
n.2101T>C
n.2158T>C
n.2121T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.42730671A>TCA392042373CDAN1c.2101T>A (p.Ser701Thr)
c.*1279T>A (n.*1279T>A)
c.94T>A (p.Ser32Thr)
c.2104T>A (p.Ser702Thr)
c.2128T>A (p.Ser710Thr)
c.2125T>A (p.Ser709Thr)
c.1093T>A (p.Ser365Thr)
c.1345T>A (p.Ser449Thr)
n.2101T>A
n.2158T>A
n.2121T>A
15g.42730672G>ACA489895220CDAN1c.2100C>T (p.Leu700=)
c.*1278C>T (n.*1278C>T)
c.93C>T (p.Leu31=)
c.2103C>T (p.Leu701=)
c.2127C>T (p.Leu709=)
c.2124C>T (p.Leu708=)
c.1092C>T (p.Leu364=)
c.1344C>T (p.Leu448=)
n.2100C>T
n.2157C>T
n.2120C>T
 dbSNP gnomAD v2 gnomAD v4
15g.42730672G>CCA489895221CDAN1c.2100C>G (p.Leu700=)
c.*1278C>G (n.*1278C>G)
c.93C>G (p.Leu31=)
c.2103C>G (p.Leu701=)
c.2127C>G (p.Leu709=)
c.2124C>G (p.Leu708=)
c.1092C>G (p.Leu364=)
c.1344C>G (p.Leu448=)
n.2100C>G
n.2157C>G
n.2120C>G
15g.42730672G=CA2172870114CDAN1c.2100C= (p.Leu700=)
c.*1278C= (n.*1278C=)
c.93C= (p.Leu31=)
c.2103C= (p.Leu701=)
c.2127C= (p.Leu709=)
c.2124C= (p.Leu708=)
c.1092C= (p.Leu364=)
c.1344C= (p.Leu448=)
n.2100C=
n.2157C=
n.2120C=
15g.42730672G>TCA489895222CDAN1c.2100C>A (p.Leu700=)
c.*1278C>A (n.*1278C>A)
c.93C>A (p.Leu31=)
c.2103C>A (p.Leu701=)
c.2127C>A (p.Leu709=)
c.2124C>A (p.Leu708=)
c.1092C>A (p.Leu364=)
c.1344C>A (p.Leu448=)
n.2100C>A
n.2157C>A
n.2120C>A
15g.42730673A>CCA392042377CDAN1c.2099T>G (p.Leu700Arg)
c.*1277T>G (n.*1277T>G)
c.92T>G (p.Leu31Arg)
c.2102T>G (p.Leu701Arg)
c.2126T>G (p.Leu709Arg)
c.2123T>G (p.Leu708Arg)
c.1091T>G (p.Leu364Arg)
c.1343T>G (p.Leu448Arg)
n.2099T>G
n.2156T>G
n.2119T>G
15g.42730673A>GCA392042378CDAN1c.2099T>C (p.Leu700Pro)
c.*1277T>C (n.*1277T>C)
c.92T>C (p.Leu31Pro)
c.2102T>C (p.Leu701Pro)
c.2126T>C (p.Leu709Pro)
c.2123T>C (p.Leu708Pro)
c.1091T>C (p.Leu364Pro)
c.1343T>C (p.Leu448Pro)
n.2099T>C
n.2156T>C
n.2119T>C
15g.42730673A>TCA392042381CDAN1c.2099T>A (p.Leu700His)
c.*1277T>A (n.*1277T>A)
c.92T>A (p.Leu31His)
c.2102T>A (p.Leu701His)
c.2126T>A (p.Leu709His)
c.2123T>A (p.Leu708His)
c.1091T>A (p.Leu364His)
c.1343T>A (p.Leu448His)
n.2099T>A
n.2156T>A
n.2119T>A
15g.42730674G>ACA392042387CDAN1c.2098C>T (p.Leu700Phe)
c.*1276C>T (n.*1276C>T)
c.91C>T (p.Leu31Phe)
c.2101C>T (p.Leu701Phe)
c.2125C>T (p.Leu709Phe)
c.2122C>T (p.Leu708Phe)
c.1090C>T (p.Leu364Phe)
c.1342C>T (p.Leu448Phe)
n.2098C>T
n.2155C>T
n.2118C>T
15g.42730674G>CCA392042389CDAN1c.2098C>G (p.Leu700Val)
c.*1276C>G (n.*1276C>G)
c.91C>G (p.Leu31Val)
c.2101C>G (p.Leu701Val)
c.2125C>G (p.Leu709Val)
c.2122C>G (p.Leu708Val)
c.1090C>G (p.Leu364Val)
c.1342C>G (p.Leu448Val)
n.2098C>G
n.2155C>G
n.2118C>G
 gnomAD v4
15g.42730674G>TCA392042392CDAN1c.2098C>A (p.Leu700Ile)
c.*1276C>A (n.*1276C>A)
c.91C>A (p.Leu31Ile)
c.2101C>A (p.Leu701Ile)
c.2125C>A (p.Leu709Ile)
c.2122C>A (p.Leu708Ile)
c.1090C>A (p.Leu364Ile)
c.1342C>A (p.Leu448Ile)
n.2098C>A
n.2155C>A
n.2118C>A
15g.42730675A>CCA392042395CDAN1c.2097T>G (p.Phe699Leu)
c.*1275T>G (n.*1275T>G)
c.90T>G (p.Phe30Leu)
c.2100T>G (p.Phe700Leu)
c.2124T>G (p.Phe708Leu)
c.2121T>G (p.Phe707Leu)
c.1089T>G (p.Phe363Leu)
c.1341T>G (p.Phe447Leu)
n.2097T>G
n.2154T>G
n.2117T>G
15g.42730675A>GCA489895223CDAN1c.2097T>C (p.Phe699=)
c.*1275T>C (n.*1275T>C)
c.90T>C (p.Phe30=)
c.2100T>C (p.Phe700=)
c.2124T>C (p.Phe708=)
c.2121T>C (p.Phe707=)
c.1089T>C (p.Phe363=)
c.1341T>C (p.Phe447=)
n.2097T>C
n.2154T>C
n.2117T>C
 gnomAD v4
15g.42730675A>TCA392042397CDAN1c.2097T>A (p.Phe699Leu)
c.*1275T>A (n.*1275T>A)
c.90T>A (p.Phe30Leu)
c.2100T>A (p.Phe700Leu)
c.2124T>A (p.Phe708Leu)
c.2121T>A (p.Phe707Leu)
c.1089T>A (p.Phe363Leu)
c.1341T>A (p.Phe447Leu)
n.2097T>A
n.2154T>A
n.2117T>A
15g.42730676A=CA2172870115CDAN1c.2096T= (p.Phe699=)
c.*1274T= (n.*1274T=)
c.89T= (p.Phe30=)
c.2099T= (p.Phe700=)
c.2123T= (p.Phe708=)
c.2120T= (p.Phe707=)
c.1088T= (p.Phe363=)
c.1340T= (p.Phe447=)
n.2096T=
n.2153T=
n.2116T=
15g.42730676A>CCA392042407CDAN1c.2096T>G (p.Phe699Cys)
c.*1274T>G (n.*1274T>G)
c.89T>G (p.Phe30Cys)
c.2099T>G (p.Phe700Cys)
c.2123T>G (p.Phe708Cys)
c.2120T>G (p.Phe707Cys)
c.1088T>G (p.Phe363Cys)
c.1340T>G (p.Phe447Cys)
n.2096T>G
n.2153T>G
n.2116T>G
15g.42730676A>GCA392042405CDAN1c.2096T>C (p.Phe699Ser)
c.*1274T>C (n.*1274T>C)
c.89T>C (p.Phe30Ser)
c.2099T>C (p.Phe700Ser)
c.2123T>C (p.Phe708Ser)
c.2120T>C (p.Phe707Ser)
c.1088T>C (p.Phe363Ser)
c.1340T>C (p.Phe447Ser)
n.2096T>C
n.2153T>C
n.2116T>C
 dbSNP gnomAD v2 gnomAD v4
15g.42730676A>TCA392042400CDAN1c.2096T>A (p.Phe699Tyr)
c.*1274T>A (n.*1274T>A)
c.89T>A (p.Phe30Tyr)
c.2099T>A (p.Phe700Tyr)
c.2123T>A (p.Phe708Tyr)
c.2120T>A (p.Phe707Tyr)
c.1088T>A (p.Phe363Tyr)
c.1340T>A (p.Phe447Tyr)
n.2096T>A
n.2153T>A
n.2116T>A
15g.42730677A=CA2172870116CDAN1c.2095T= (p.Phe699=)
c.*1273T= (n.*1273T=)
c.88T= (p.Phe30=)
c.2098T= (p.Phe700=)
c.2122T= (p.Phe708=)
c.2119T= (p.Phe707=)
c.1087T= (p.Phe363=)
c.1339T= (p.Phe447=)
n.2095T=
n.2152T=
n.2115T=
15g.42730677A>CCA392042409CDAN1c.2095T>G (p.Phe699Val)
c.*1273T>G (n.*1273T>G)
c.88T>G (p.Phe30Val)
c.2098T>G (p.Phe700Val)
c.2122T>G (p.Phe708Val)
c.2119T>G (p.Phe707Val)
c.1087T>G (p.Phe363Val)
c.1339T>G (p.Phe447Val)
n.2095T>G
n.2152T>G
n.2115T>G
 dbSNP
15g.42730677A>GCA392042411CDAN1c.2095T>C (p.Phe699Leu)
c.*1273T>C (n.*1273T>C)
c.88T>C (p.Phe30Leu)
c.2098T>C (p.Phe700Leu)
c.2122T>C (p.Phe708Leu)
c.2119T>C (p.Phe707Leu)
c.1087T>C (p.Phe363Leu)
c.1339T>C (p.Phe447Leu)
n.2095T>C
n.2152T>C
n.2115T>C
15g.42730677A>TCA392042412CDAN1c.2095T>A (p.Phe699Ile)
c.*1273T>A (n.*1273T>A)
c.88T>A (p.Phe30Ile)
c.2098T>A (p.Phe700Ile)
c.2122T>A (p.Phe708Ile)
c.2119T>A (p.Phe707Ile)
c.1087T>A (p.Phe363Ile)
c.1339T>A (p.Phe447Ile)
n.2095T>A
n.2152T>A
n.2115T>A
15g.42730678C>ACA392042414CDAN1c.2094G>T (p.Glu698Asp)
c.*1272G>T (n.*1272G>T)
c.87G>T (p.Glu29Asp)
c.2097G>T (p.Glu699Asp)
c.2121G>T (p.Glu707Asp)
c.2118G>T (p.Glu706Asp)
c.1086G>T (p.Glu362Asp)
c.1338G>T (p.Glu446Asp)
n.2094G>T
n.2151G>T
n.2114G>T
15g.42730678C=CA2172870117CDAN1c.2094G= (p.Glu698=)
c.*1272G= (n.*1272G=)
c.87G= (p.Glu29=)
c.2097G= (p.Glu699=)
c.2121G= (p.Glu707=)
c.2118G= (p.Glu706=)
c.1086G= (p.Glu362=)
c.1338G= (p.Glu446=)
n.2094G=
n.2151G=
n.2114G=
15g.42730678C>GCA392042415CDAN1c.2094G>C (p.Glu698Asp)
c.*1272G>C (n.*1272G>C)
c.87G>C (p.Glu29Asp)
c.2097G>C (p.Glu699Asp)
c.2121G>C (p.Glu707Asp)
c.2118G>C (p.Glu706Asp)
c.1086G>C (p.Glu362Asp)
c.1338G>C (p.Glu446Asp)
n.2094G>C
n.2151G>C
n.2114G>C
15g.42730678C>TCA489895224CDAN1c.2094G>A (p.Glu698=)
c.*1272G>A (n.*1272G>A)
c.87G>A (p.Glu29=)
c.2097G>A (p.Glu699=)
c.2121G>A (p.Glu707=)
c.2118G>A (p.Glu706=)
c.1086G>A (p.Glu362=)
c.1338G>A (p.Glu446=)
n.2094G>A
n.2151G>A
n.2114G>A
 dbSNP gnomAD v2
15g.42730679T>ACA392042416CDAN1c.2093A>T (p.Glu698Val)
c.*1271A>T (n.*1271A>T)
c.86A>T (p.Glu29Val)
c.2096A>T (p.Glu699Val)
c.2120A>T (p.Glu707Val)
c.2117A>T (p.Glu706Val)
c.1085A>T (p.Glu362Val)
c.1337A>T (p.Glu446Val)
n.2093A>T
n.2150A>T
n.2113A>T
15g.42730679T>CCA392042418CDAN1c.2093A>G (p.Glu698Gly)
c.*1271A>G (n.*1271A>G)
c.86A>G (p.Glu29Gly)
c.2096A>G (p.Glu699Gly)
c.2120A>G (p.Glu707Gly)
c.2117A>G (p.Glu706Gly)
c.1085A>G (p.Glu362Gly)
c.1337A>G (p.Glu446Gly)
n.2093A>G
n.2150A>G
n.2113A>G
15g.42730679T>GCA392042420CDAN1c.2093A>C (p.Glu698Ala)
c.*1271A>C (n.*1271A>C)
c.86A>C (p.Glu29Ala)
c.2096A>C (p.Glu699Ala)
c.2120A>C (p.Glu707Ala)
c.2117A>C (p.Glu706Ala)
c.1085A>C (p.Glu362Ala)
c.1337A>C (p.Glu446Ala)
n.2093A>C
n.2150A>C
n.2113A>C
15g.42730680C>ACA392042423CDAN1c.2092G>T (p.Glu698Ter)
c.*1270G>T (n.*1270G>T)
c.85G>T (p.Glu29Ter)
c.2095G>T (p.Glu699Ter)
c.2119G>T (p.Glu707Ter)
c.2116G>T (p.Glu706Ter)
c.1084G>T (p.Glu362Ter)
c.1336G>T (p.Glu446Ter)
n.2092G>T
n.2149G>T
n.2112G>T
15g.42730680C=CA2172870118CDAN1c.2092G= (p.Glu698=)
c.*1270G= (n.*1270G=)
c.85G= (p.Glu29=)
c.2095G= (p.Glu699=)
c.2119G= (p.Glu707=)
c.2116G= (p.Glu706=)
c.1084G= (p.Glu362=)
c.1336G= (p.Glu446=)
n.2092G=
n.2149G=
n.2112G=
15g.42730680C>GCA269904757CDAN1c.2092G>C (p.Glu698Gln)
c.*1270G>C (n.*1270G>C)
c.85G>C (p.Glu29Gln)
c.2095G>C (p.Glu699Gln)
c.2119G>C (p.Glu707Gln)
c.2116G>C (p.Glu706Gln)
c.1084G>C (p.Glu362Gln)
c.1336G>C (p.Glu446Gln)
n.2092G>C
n.2149G>C
n.2112G>C
 dbSNP gnomAD v4
15g.42730680C>TCA392042429CDAN1c.2092G>A (p.Glu698Lys)
c.*1270G>A (n.*1270G>A)
c.85G>A (p.Glu29Lys)
c.2095G>A (p.Glu699Lys)
c.2119G>A (p.Glu707Lys)
c.2116G>A (p.Glu706Lys)
c.1084G>A (p.Glu362Lys)
c.1336G>A (p.Glu446Lys)
n.2092G>A
n.2149G>A
n.2112G>A
15g.42730681C>ACA489895225CDAN1c.2091G>T (p.Val697=)
c.*1269G>T (n.*1269G>T)
c.84G>T (p.Val28=)
c.2094G>T (p.Val698=)
c.2118G>T (p.Val706=)
c.2115G>T (p.Val705=)
c.1083G>T (p.Val361=)
c.1335G>T (p.Val445=)
n.2091G>T
n.2148G>T
n.2111G>T
15g.42730681C=CA2172870119CDAN1c.2091G= (p.Val697=)
c.*1269G= (n.*1269G=)
c.84G= (p.Val28=)
c.2094G= (p.Val698=)
c.2118G= (p.Val706=)
c.2115G= (p.Val705=)
c.1083G= (p.Val361=)
c.1335G= (p.Val445=)
n.2091G=
n.2148G=
n.2111G=
15g.42730681C>GCA7515821CDAN1c.2091G>C (p.Val697=)
c.*1269G>C (n.*1269G>C)
c.84G>C (p.Val28=)
c.2094G>C (p.Val698=)
c.2118G>C (p.Val706=)
c.2115G>C (p.Val705=)
c.1083G>C (p.Val361=)
c.1335G>C (p.Val445=)
n.2091G>C
n.2148G>C
n.2111G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42730681C>TCA489895226CDAN1c.2091G>A (p.Val697=)
c.*1269G>A (n.*1269G>A)
c.84G>A (p.Val28=)
c.2094G>A (p.Val698=)
c.2118G>A (p.Val706=)
c.2115G>A (p.Val705=)
c.1083G>A (p.Val361=)
c.1335G>A (p.Val445=)
n.2091G>A
n.2148G>A
n.2111G>A
15g.42730682A=CA2172870120CDAN1c.2090T= (p.Val697=)
c.*1268T= (n.*1268T=)
c.83T= (p.Val28=)
c.2093T= (p.Val698=)
c.2117T= (p.Val706=)
c.2114T= (p.Val705=)
c.1082T= (p.Val361=)
c.1334T= (p.Val445=)
n.2090T=
n.2147T=
n.2110T=
15g.42730682A>CCA7515822CDAN1c.2090T>G (p.Val697Gly)
c.*1268T>G (n.*1268T>G)
c.83T>G (p.Val28Gly)
c.2093T>G (p.Val698Gly)
c.2117T>G (p.Val706Gly)
c.2114T>G (p.Val705Gly)
c.1082T>G (p.Val361Gly)
c.1334T>G (p.Val445Gly)
n.2090T>G
n.2147T>G
n.2110T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42730682A>GCA392042435CDAN1c.2090T>C (p.Val697Ala)
c.*1268T>C (n.*1268T>C)
c.83T>C (p.Val28Ala)
c.2093T>C (p.Val698Ala)
c.2117T>C (p.Val706Ala)
c.2114T>C (p.Val705Ala)
c.1082T>C (p.Val361Ala)
c.1334T>C (p.Val445Ala)
n.2090T>C
n.2147T>C
n.2110T>C
15g.42730682A>TCA392042430CDAN1c.2090T>A (p.Val697Glu)
c.*1268T>A (n.*1268T>A)
c.83T>A (p.Val28Glu)
c.2093T>A (p.Val698Glu)
c.2117T>A (p.Val706Glu)
c.2114T>A (p.Val705Glu)
c.1082T>A (p.Val361Glu)
c.1334T>A (p.Val445Glu)
n.2090T>A
n.2147T>A
n.2110T>A
15g.42730683C>ACA392042437CDAN1c.2089G>T (p.Val697Leu)
c.*1267G>T (n.*1267G>T)
c.82G>T (p.Val28Leu)
c.2092G>T (p.Val698Leu)
c.2116G>T (p.Val706Leu)
c.2113G>T (p.Val705Leu)
c.1081G>T (p.Val361Leu)
c.1333G>T (p.Val445Leu)
n.2089G>T
n.2146G>T
n.2109G>T
15g.42730683C>GCA392042439CDAN1c.2089G>C (p.Val697Leu)
c.*1267G>C (n.*1267G>C)
c.82G>C (p.Val28Leu)
c.2092G>C (p.Val698Leu)
c.2116G>C (p.Val706Leu)
c.2113G>C (p.Val705Leu)
c.1081G>C (p.Val361Leu)
c.1333G>C (p.Val445Leu)
n.2089G>C
n.2146G>C
n.2109G>C
15g.42730683C>TCA392042440CDAN1c.2089G>A (p.Val697Met)
c.*1267G>A (n.*1267G>A)
c.82G>A (p.Val28Met)
c.2092G>A (p.Val698Met)
c.2116G>A (p.Val706Met)
c.2113G>A (p.Val705Met)
c.1081G>A (p.Val361Met)
c.1333G>A (p.Val445Met)
n.2089G>A
n.2146G>A
n.2109G>A
 gnomAD v4
15g.42730684C>ACA489895227CDAN1c.2088G>T (p.Leu696=)
c.*1266G>T (n.*1266G>T)
c.81G>T (p.Leu27=)
c.2091G>T (p.Leu697=)
c.2115G>T (p.Leu705=)
c.2112G>T (p.Leu704=)
c.1080G>T (p.Leu360=)
c.1332G>T (p.Leu444=)
n.2088G>T
n.2145G>T
n.2108G>T
15g.42730684C=CA2172870121CDAN1c.2088G= (p.Leu696=)
c.*1266G= (n.*1266G=)
c.81G= (p.Leu27=)
c.2091G= (p.Leu697=)
c.2115G= (p.Leu705=)
c.2112G= (p.Leu704=)
c.1080G= (p.Leu360=)
c.1332G= (p.Leu444=)
n.2088G=
n.2145G=
n.2108G=
15g.42730684C>GCA489895228CDAN1c.2088G>C (p.Leu696=)
c.*1266G>C (n.*1266G>C)
c.81G>C (p.Leu27=)
c.2091G>C (p.Leu697=)
c.2115G>C (p.Leu705=)
c.2112G>C (p.Leu704=)
c.1080G>C (p.Leu360=)
c.1332G>C (p.Leu444=)
n.2088G>C
n.2145G>C
n.2108G>C
15g.42730684C>TCA7515823CDAN1c.2088G>A (p.Leu696=)
c.*1266G>A (n.*1266G>A)
c.81G>A (p.Leu27=)
c.2091G>A (p.Leu697=)
c.2115G>A (p.Leu705=)
c.2112G>A (p.Leu704=)
c.1080G>A (p.Leu360=)
c.1332G>A (p.Leu444=)
n.2088G>A
n.2145G>A
n.2108G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730685A>CCA392042444CDAN1c.2087T>G (p.Leu696Arg)
c.*1265T>G (n.*1265T>G)
c.80T>G (p.Leu27Arg)
c.2090T>G (p.Leu697Arg)
c.2114T>G (p.Leu705Arg)
c.2111T>G (p.Leu704Arg)
c.1079T>G (p.Leu360Arg)
c.1331T>G (p.Leu444Arg)
n.2087T>G
n.2144T>G
n.2107T>G
 gnomAD v4
15g.42730685A>GCA392042447CDAN1c.2087T>C (p.Leu696Pro)
c.*1265T>C (n.*1265T>C)
c.80T>C (p.Leu27Pro)
c.2090T>C (p.Leu697Pro)
c.2114T>C (p.Leu705Pro)
c.2111T>C (p.Leu704Pro)
c.1079T>C (p.Leu360Pro)
c.1331T>C (p.Leu444Pro)
n.2087T>C
n.2144T>C
n.2107T>C
15g.42730685A>TCA392042450CDAN1c.2087T>A (p.Leu696Gln)
c.*1265T>A (n.*1265T>A)
c.80T>A (p.Leu27Gln)
c.2090T>A (p.Leu697Gln)
c.2114T>A (p.Leu705Gln)
c.2111T>A (p.Leu704Gln)
c.1079T>A (p.Leu360Gln)
c.1331T>A (p.Leu444Gln)
n.2087T>A
n.2144T>A
n.2107T>A
 ClinVar
15g.42730686G>ACA489895229CDAN1c.2086C>T (p.Leu696=)
c.*1264C>T (n.*1264C>T)
c.79C>T (p.Leu27=)
c.2089C>T (p.Leu697=)
c.2113C>T (p.Leu705=)
c.2110C>T (p.Leu704=)
c.1078C>T (p.Leu360=)
c.1330C>T (p.Leu444=)
n.2086C>T
n.2143C>T
n.2106C>T
15g.42730686G>CCA392042452CDAN1c.2086C>G (p.Leu696Val)
c.*1264C>G (n.*1264C>G)
c.79C>G (p.Leu27Val)
c.2089C>G (p.Leu697Val)
c.2113C>G (p.Leu705Val)
c.2110C>G (p.Leu704Val)
c.1078C>G (p.Leu360Val)
c.1330C>G (p.Leu444Val)
n.2086C>G
n.2143C>G
n.2106C>G
15g.42730686G>TCA392042454CDAN1c.2086C>A (p.Leu696Met)
c.*1264C>A (n.*1264C>A)
c.79C>A (p.Leu27Met)
c.2089C>A (p.Leu697Met)
c.2113C>A (p.Leu705Met)
c.2110C>A (p.Leu704Met)
c.1078C>A (p.Leu360Met)
c.1330C>A (p.Leu444Met)
n.2086C>A
n.2143C>A
n.2106C>A
15g.42730687C>ACA392042457CDAN1c.2085G>T (p.Trp695Cys)
c.*1263G>T (n.*1263G>T)
c.78G>T (p.Trp26Cys)
c.2088G>T (p.Trp696Cys)
c.2112G>T (p.Trp704Cys)
c.2109G>T (p.Trp703Cys)
c.1077G>T (p.Trp359Cys)
c.1329G>T (p.Trp443Cys)
n.2085G>T
n.2142G>T
n.2105G>T
15g.42730687C>GCA392042459CDAN1c.2085G>C (p.Trp695Cys)
c.*1263G>C (n.*1263G>C)
c.78G>C (p.Trp26Cys)
c.2088G>C (p.Trp696Cys)
c.2112G>C (p.Trp704Cys)
c.2109G>C (p.Trp703Cys)
c.1077G>C (p.Trp359Cys)
c.1329G>C (p.Trp443Cys)
n.2085G>C
n.2142G>C
n.2105G>C
15g.42730687C>TCA392042461CDAN1c.2085G>A (p.Trp695Ter)
c.*1263G>A (n.*1263G>A)
c.78G>A (p.Trp26Ter)
c.2088G>A (p.Trp696Ter)
c.2112G>A (p.Trp704Ter)
c.2109G>A (p.Trp703Ter)
c.1077G>A (p.Trp359Ter)
c.1329G>A (p.Trp443Ter)
n.2085G>A
n.2142G>A
n.2105G>A
15g.42730688C>ACA392042466CDAN1c.2084G>T (p.Trp695Leu)
c.*1262G>T (n.*1262G>T)
c.77G>T (p.Trp26Leu)
c.2087G>T (p.Trp696Leu)
c.2111G>T (p.Trp704Leu)
c.2108G>T (p.Trp703Leu)
c.1076G>T (p.Trp359Leu)
c.1328G>T (p.Trp443Leu)
n.2084G>T
n.2141G>T
n.2104G>T
15g.42730688C=CA2172870122CDAN1c.2084G= (p.Trp695=)
c.*1262G= (n.*1262G=)
c.77G= (p.Trp26=)
c.2087G= (p.Trp696=)
c.2111G= (p.Trp704=)
c.2108G= (p.Trp703=)
c.1076G= (p.Trp359=)
c.1328G= (p.Trp443=)
n.2084G=
n.2141G=
n.2104G=
15g.42730688C>GCA392042469CDAN1c.2084G>C (p.Trp695Ser)
c.*1262G>C (n.*1262G>C)
c.77G>C (p.Trp26Ser)
c.2087G>C (p.Trp696Ser)
c.2111G>C (p.Trp704Ser)
c.2108G>C (p.Trp703Ser)
c.1076G>C (p.Trp359Ser)
c.1328G>C (p.Trp443Ser)
n.2084G>C
n.2141G>C
n.2104G>C
15g.42730688C>TCA392042465CDAN1c.2084G>A (p.Trp695Ter)
c.*1262G>A (n.*1262G>A)
c.77G>A (p.Trp26Ter)
c.2087G>A (p.Trp696Ter)
c.2111G>A (p.Trp704Ter)
c.2108G>A (p.Trp703Ter)
c.1076G>A (p.Trp359Ter)
c.1328G>A (p.Trp443Ter)
n.2084G>A
n.2141G>A
n.2104G>A
 dbSNP
15g.42730689A=CA2172870123CDAN1c.2083T= (p.Trp695=)
c.*1261T= (n.*1261T=)
c.76T= (p.Trp26=)
c.2086T= (p.Trp696=)
c.2110T= (p.Trp704=)
c.2107T= (p.Trp703=)
c.1075T= (p.Trp359=)
c.1327T= (p.Trp443=)
n.2083T=
n.2140T=
n.2103T=
15g.42730689A>CCA392042471CDAN1c.2083T>G (p.Trp695Gly)
c.*1261T>G (n.*1261T>G)
c.76T>G (p.Trp26Gly)
c.2086T>G (p.Trp696Gly)
c.2110T>G (p.Trp704Gly)
c.2107T>G (p.Trp703Gly)
c.1075T>G (p.Trp359Gly)
c.1327T>G (p.Trp443Gly)
n.2083T>G
n.2140T>G
n.2103T>G
15g.42730689A>GCA392042473CDAN1c.2083T>C (p.Trp695Arg)
c.*1261T>C (n.*1261T>C)
c.76T>C (p.Trp26Arg)
c.2086T>C (p.Trp696Arg)
c.2110T>C (p.Trp704Arg)
c.2107T>C (p.Trp703Arg)
c.1075T>C (p.Trp359Arg)
c.1327T>C (p.Trp443Arg)
n.2083T>C
n.2140T>C
n.2103T>C
 dbSNP gnomAD v3 gnomAD v4
15g.42730689A>TCA392042476CDAN1c.2083T>A (p.Trp695Arg)
c.*1261T>A (n.*1261T>A)
c.76T>A (p.Trp26Arg)
c.2086T>A (p.Trp696Arg)
c.2110T>A (p.Trp704Arg)
c.2107T>A (p.Trp703Arg)
c.1075T>A (p.Trp359Arg)
c.1327T>A (p.Trp443Arg)
n.2083T>A
n.2140T>A
n.2103T>A
15g.42730690G>ACA489895231CDAN1c.2082C>T (p.Pro694=)
c.*1260C>T (n.*1260C>T)
c.75C>T (p.Pro25=)
c.2085C>T (p.Pro695=)
c.2109C>T (p.Pro703=)
c.2106C>T (p.Pro702=)
c.1074C>T (p.Pro358=)
c.1326C>T (p.Pro442=)
n.2082C>T
n.2139C>T
n.2102C>T
 gnomAD v4
15g.42730690G>CCA489895232CDAN1c.2082C>G (p.Pro694=)
c.*1260C>G (n.*1260C>G)
c.75C>G (p.Pro25=)
c.2085C>G (p.Pro695=)
c.2109C>G (p.Pro703=)
c.2106C>G (p.Pro702=)
c.1074C>G (p.Pro358=)
c.1326C>G (p.Pro442=)
n.2082C>G
n.2139C>G
n.2102C>G
15g.42730690G=CA2172870124CDAN1c.2082C= (p.Pro694=)
c.*1260C= (n.*1260C=)
c.75C= (p.Pro25=)
c.2085C= (p.Pro695=)
c.2109C= (p.Pro703=)
c.2106C= (p.Pro702=)
c.1074C= (p.Pro358=)
c.1326C= (p.Pro442=)
n.2082C=
n.2139C=
n.2102C=
15g.42730690G>TCA489895233CDAN1c.2082C>A (p.Pro694=)
c.*1260C>A (n.*1260C>A)
c.75C>A (p.Pro25=)
c.2085C>A (p.Pro695=)
c.2109C>A (p.Pro703=)
c.2106C>A (p.Pro702=)
c.1074C>A (p.Pro358=)
c.1326C>A (p.Pro442=)
n.2082C>A
n.2139C>A
n.2102C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.42730691G>ACA7515824CDAN1c.2081C>T (p.Pro694Leu)
c.*1259C>T (n.*1259C>T)
c.74C>T (p.Pro25Leu)
c.2084C>T (p.Pro695Leu)
c.2108C>T (p.Pro703Leu)
c.2105C>T (p.Pro702Leu)
c.1073C>T (p.Pro358Leu)
c.1325C>T (p.Pro442Leu)
n.2081C>T
n.2138C>T
n.2101C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42730691G>CCA392042480CDAN1c.2081C>G (p.Pro694Arg)
c.*1259C>G (n.*1259C>G)
c.74C>G (p.Pro25Arg)
c.2084C>G (p.Pro695Arg)
c.2108C>G (p.Pro703Arg)
c.2105C>G (p.Pro702Arg)
c.1073C>G (p.Pro358Arg)
c.1325C>G (p.Pro442Arg)
n.2081C>G
n.2138C>G
n.2101C>G
 dbSNP
15g.42730691G=CA2172870125CDAN1c.2081C= (p.Pro694=)
c.*1259C= (n.*1259C=)
c.74C= (p.Pro25=)
c.2084C= (p.Pro695=)
c.2108C= (p.Pro703=)
c.2105C= (p.Pro702=)
c.1073C= (p.Pro358=)
c.1325C= (p.Pro442=)
n.2081C=
n.2138C=
n.2101C=
15g.42730691G>TCA392042481CDAN1c.2081C>A (p.Pro694His)
c.*1259C>A (n.*1259C>A)
c.74C>A (p.Pro25His)
c.2084C>A (p.Pro695His)
c.2108C>A (p.Pro703His)
c.2105C>A (p.Pro702His)
c.1073C>A (p.Pro358His)
c.1325C>A (p.Pro442His)
n.2081C>A
n.2138C>A
n.2101C>A
15g.42730692G>ACA392042485CDAN1c.2080C>T (p.Pro694Ser)
c.*1258C>T (n.*1258C>T)
c.73C>T (p.Pro25Ser)
c.2083C>T (p.Pro695Ser)
c.2107C>T (p.Pro703Ser)
c.2104C>T (p.Pro702Ser)
c.1072C>T (p.Pro358Ser)
c.1324C>T (p.Pro442Ser)
n.2080C>T
n.2137C>T
n.2100C>T
 ClinVar dbSNP gnomAD v4
15g.42730692G>CCA392042482CDAN1c.2080C>G (p.Pro694Ala)
c.*1258C>G (n.*1258C>G)
c.73C>G (p.Pro25Ala)
c.2083C>G (p.Pro695Ala)
c.2107C>G (p.Pro703Ala)
c.2104C>G (p.Pro702Ala)
c.1072C>G (p.Pro358Ala)
c.1324C>G (p.Pro442Ala)
n.2080C>G
n.2137C>G
n.2100C>G
15g.42730692G=CA2172870126CDAN1c.2080C= (p.Pro694=)
c.*1258C= (n.*1258C=)
c.73C= (p.Pro25=)
c.2083C= (p.Pro695=)
c.2107C= (p.Pro703=)
c.2104C= (p.Pro702=)
c.1072C= (p.Pro358=)
c.1324C= (p.Pro442=)
n.2080C=
n.2137C=
n.2100C=
15g.42730692G>TCA392042483CDAN1c.2080C>A (p.Pro694Thr)
c.*1258C>A (n.*1258C>A)
c.73C>A (p.Pro25Thr)
c.2083C>A (p.Pro695Thr)
c.2107C>A (p.Pro703Thr)
c.2104C>A (p.Pro702Thr)
c.1072C>A (p.Pro358Thr)
c.1324C>A (p.Pro442Thr)
n.2080C>A
n.2137C>A
n.2100C>A
15g.42730693C>ACA489895235CDAN1c.2079G>T (p.Val693=)
c.*1257G>T (n.*1257G>T)
c.72G>T (p.Val24=)
c.2082G>T (p.Val694=)
c.2106G>T (p.Val702=)
c.2103G>T (p.Val701=)
c.1071G>T (p.Val357=)
c.1323G>T (p.Val441=)
n.2079G>T
n.2136G>T
n.2099G>T
 dbSNP gnomAD v2 gnomAD v4
15g.42730693C=CA2172870127CDAN1c.2079G= (p.Val693=)
c.*1257G= (n.*1257G=)
c.72G= (p.Val24=)
c.2082G= (p.Val694=)
c.2106G= (p.Val702=)
c.2103G= (p.Val701=)
c.1071G= (p.Val357=)
c.1323G= (p.Val441=)
n.2079G=
n.2136G=
n.2099G=
15g.42730693C>GCA489895236CDAN1c.2079G>C (p.Val693=)
c.*1257G>C (n.*1257G>C)
c.72G>C (p.Val24=)
c.2082G>C (p.Val694=)
c.2106G>C (p.Val702=)
c.2103G>C (p.Val701=)
c.1071G>C (p.Val357=)
c.1323G>C (p.Val441=)
n.2079G>C
n.2136G>C
n.2099G>C
15g.42730693C>TCA489895237CDAN1c.2079G>A (p.Val693=)
c.*1257G>A (n.*1257G>A)
c.72G>A (p.Val24=)
c.2082G>A (p.Val694=)
c.2106G>A (p.Val702=)
c.2103G>A (p.Val701=)
c.1071G>A (p.Val357=)
c.1323G>A (p.Val441=)
n.2079G>A
n.2136G>A
n.2099G>A
15g.42730694A>CCA392042488CDAN1c.2078T>G (p.Val693Gly)
c.*1256T>G (n.*1256T>G)
c.71T>G (p.Val24Gly)
c.2081T>G (p.Val694Gly)
c.2105T>G (p.Val702Gly)
c.2102T>G (p.Val701Gly)
c.1070T>G (p.Val357Gly)
c.1322T>G (p.Val441Gly)
n.2078T>G
n.2135T>G
n.2098T>G
15g.42730694A>GCA392042490CDAN1c.2078T>C (p.Val693Ala)
c.*1256T>C (n.*1256T>C)
c.71T>C (p.Val24Ala)
c.2081T>C (p.Val694Ala)
c.2105T>C (p.Val702Ala)
c.2102T>C (p.Val701Ala)
c.1070T>C (p.Val357Ala)
c.1322T>C (p.Val441Ala)
n.2078T>C
n.2135T>C
n.2098T>C
15g.42730694A>TCA392042492CDAN1c.2078T>A (p.Val693Glu)
c.*1256T>A (n.*1256T>A)
c.71T>A (p.Val24Glu)
c.2081T>A (p.Val694Glu)
c.2105T>A (p.Val702Glu)
c.2102T>A (p.Val701Glu)
c.1070T>A (p.Val357Glu)
c.1322T>A (p.Val441Glu)
n.2078T>A
n.2135T>A
n.2098T>A
15g.42730695C>ACA392042494CDAN1c.2077G>T (p.Val693Leu)
c.*1255G>T (n.*1255G>T)
c.70G>T (p.Val24Leu)
c.2080G>T (p.Val694Leu)
c.2104G>T (p.Val702Leu)
c.2101G>T (p.Val701Leu)
c.1069G>T (p.Val357Leu)
c.1321G>T (p.Val441Leu)
n.2077G>T
n.2134G>T
n.2097G>T
15g.42730695C=CA2172870128CDAN1c.2077G= (p.Val693=)
c.*1255G= (n.*1255G=)
c.70G= (p.Val24=)
c.2080G= (p.Val694=)
c.2104G= (p.Val702=)
c.2101G= (p.Val701=)
c.1069G= (p.Val357=)
c.1321G= (p.Val441=)
n.2077G=
n.2134G=
n.2097G=
15g.42730695C>GCA392042499CDAN1c.2077G>C (p.Val693Leu)
c.*1255G>C (n.*1255G>C)
c.70G>C (p.Val24Leu)
c.2080G>C (p.Val694Leu)
c.2104G>C (p.Val702Leu)
c.2101G>C (p.Val701Leu)
c.1069G>C (p.Val357Leu)
c.1321G>C (p.Val441Leu)
n.2077G>C
n.2134G>C
n.2097G>C
 gnomAD v4
15g.42730695C>TCA392042507CDAN1c.2077G>A (p.Val693Met)
c.*1255G>A (n.*1255G>A)
c.70G>A (p.Val24Met)
c.2080G>A (p.Val694Met)
c.2104G>A (p.Val702Met)
c.2101G>A (p.Val701Met)
c.1069G>A (p.Val357Met)
c.1321G>A (p.Val441Met)
n.2077G>A
n.2134G>A
n.2097G>A
 dbSNP gnomAD v4
15g.42730696G>ACA7515825CDAN1c.2076C>T (p.Thr692=)
c.*1254C>T (n.*1254C>T)
c.69C>T (p.Thr23=)
c.2079C>T (p.Thr693=)
c.2103C>T (p.Thr701=)
c.2100C>T (p.Thr700=)
c.1068C>T (p.Thr356=)
c.1320C>T (p.Thr440=)
n.2076C>T
n.2133C>T
n.2096C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730696G>CCA489895238CDAN1c.2076C>G (p.Thr692=)
c.*1254C>G (n.*1254C>G)
c.69C>G (p.Thr23=)
c.2079C>G (p.Thr693=)
c.2103C>G (p.Thr701=)
c.2100C>G (p.Thr700=)
c.1068C>G (p.Thr356=)
c.1320C>G (p.Thr440=)
n.2076C>G
n.2133C>G
n.2096C>G
 gnomAD v4
15g.42730696G=CA2172870129CDAN1c.2076C= (p.Thr692=)
c.*1254C= (n.*1254C=)
c.69C= (p.Thr23=)
c.2079C= (p.Thr693=)
c.2103C= (p.Thr701=)
c.2100C= (p.Thr700=)
c.1068C= (p.Thr356=)
c.1320C= (p.Thr440=)
n.2076C=
n.2133C=
n.2096C=
15g.42730696G>TCA489895239CDAN1c.2076C>A (p.Thr692=)
c.*1254C>A (n.*1254C>A)
c.69C>A (p.Thr23=)
c.2079C>A (p.Thr693=)
c.2103C>A (p.Thr701=)
c.2100C>A (p.Thr700=)
c.1068C>A (p.Thr356=)
c.1320C>A (p.Thr440=)
n.2076C>A
n.2133C>A
n.2096C>A
15g.42730697G>ACA7515826CDAN1c.2075C>T (p.Thr692Ile)
c.*1253C>T (n.*1253C>T)
c.68C>T (p.Thr23Ile)
c.2078C>T (p.Thr693Ile)
c.2102C>T (p.Thr701Ile)
c.2099C>T (p.Thr700Ile)
c.1067C>T (p.Thr356Ile)
c.1319C>T (p.Thr440Ile)
n.2075C>T
n.2132C>T
n.2095C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
15g.42730697G>CCA392042511CDAN1c.2075C>G (p.Thr692Ser)
c.*1253C>G (n.*1253C>G)
c.68C>G (p.Thr23Ser)
c.2078C>G (p.Thr693Ser)
c.2102C>G (p.Thr701Ser)
c.2099C>G (p.Thr700Ser)
c.1067C>G (p.Thr356Ser)
c.1319C>G (p.Thr440Ser)
n.2075C>G
n.2132C>G
n.2095C>G
15g.42730697G=CA2172870130CDAN1c.2075C= (p.Thr692=)
c.*1253C= (n.*1253C=)
c.68C= (p.Thr23=)
c.2078C= (p.Thr693=)
c.2102C= (p.Thr701=)
c.2099C= (p.Thr700=)
c.1067C= (p.Thr356=)
c.1319C= (p.Thr440=)
n.2075C=
n.2132C=
n.2095C=
15g.42730697G>TCA392042514CDAN1c.2075C>A (p.Thr692Asn)
c.*1253C>A (n.*1253C>A)
c.68C>A (p.Thr23Asn)
c.2078C>A (p.Thr693Asn)
c.2102C>A (p.Thr701Asn)
c.2099C>A (p.Thr700Asn)
c.1067C>A (p.Thr356Asn)
c.1319C>A (p.Thr440Asn)
n.2075C>A
n.2132C>A
n.2095C>A
15g.42730698T>ACA392042516CDAN1c.2074A>T (p.Thr692Ser)
c.*1252A>T (n.*1252A>T)
c.67A>T (p.Thr23Ser)
c.2077A>T (p.Thr693Ser)
c.2101A>T (p.Thr701Ser)
c.2098A>T (p.Thr700Ser)
c.1066A>T (p.Thr356Ser)
c.1318A>T (p.Thr440Ser)
n.2074A>T
n.2131A>T
n.2094A>T
15g.42730698T>CCA392042518CDAN1c.2074A>G (p.Thr692Ala)
c.*1252A>G (n.*1252A>G)
c.67A>G (p.Thr23Ala)
c.2077A>G (p.Thr693Ala)
c.2101A>G (p.Thr701Ala)
c.2098A>G (p.Thr700Ala)
c.1066A>G (p.Thr356Ala)
c.1318A>G (p.Thr440Ala)
n.2074A>G
n.2131A>G
n.2094A>G
 dbSNP gnomAD v2 gnomAD v4
15g.42730698T>GCA392042519CDAN1c.2074A>C (p.Thr692Pro)
c.*1252A>C (n.*1252A>C)
c.67A>C (p.Thr23Pro)
c.2077A>C (p.Thr693Pro)
c.2101A>C (p.Thr701Pro)
c.2098A>C (p.Thr700Pro)
c.1066A>C (p.Thr356Pro)
c.1318A>C (p.Thr440Pro)
n.2074A>C
n.2131A>C
n.2094A>C
15g.42730698T=CA2172870131CDAN1c.2074A= (p.Thr692=)
c.*1252A= (n.*1252A=)
c.67A= (p.Thr23=)
c.2077A= (p.Thr693=)
c.2101A= (p.Thr701=)
c.2098A= (p.Thr700=)
c.1066A= (p.Thr356=)
c.1318A= (p.Thr440=)
n.2074A=
n.2131A=
n.2094A=
15g.42730699G>ACA269904780CDAN1c.2073C>T (p.Leu691=)
c.*1251C>T (n.*1251C>T)
c.66C>T (p.Leu22=)
c.2076C>T (p.Leu692=)
c.2100C>T (p.Leu700=)
c.2097C>T (p.Leu699=)
c.1065C>T (p.Leu355=)
c.1317C>T (p.Leu439=)
n.2073C>T
n.2130C>T
n.2093C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.42730699G>CCA489895243CDAN1c.2073C>G (p.Leu691=)
c.*1251C>G (n.*1251C>G)
c.66C>G (p.Leu22=)
c.2076C>G (p.Leu692=)
c.2100C>G (p.Leu700=)
c.2097C>G (p.Leu699=)
c.1065C>G (p.Leu355=)
c.1317C>G (p.Leu439=)
n.2073C>G
n.2130C>G
n.2093C>G
15g.42730699G=CA2172870132CDAN1c.2073C= (p.Leu691=)
c.*1251C= (n.*1251C=)
c.66C= (p.Leu22=)
c.2076C= (p.Leu692=)
c.2100C= (p.Leu700=)
c.2097C= (p.Leu699=)
c.1065C= (p.Leu355=)
c.1317C= (p.Leu439=)
n.2073C=
n.2130C=
n.2093C=
15g.42730699G>TCA489895244CDAN1c.2073C>A (p.Leu691=)
c.*1251C>A (n.*1251C>A)
c.66C>A (p.Leu22=)
c.2076C>A (p.Leu692=)
c.2100C>A (p.Leu700=)
c.2097C>A (p.Leu699=)
c.1065C>A (p.Leu355=)
c.1317C>A (p.Leu439=)
n.2073C>A
n.2130C>A
n.2093C>A
15g.42730700A>CCA392042521CDAN1c.2072T>G (p.Leu691Arg)
c.*1250T>G (n.*1250T>G)
c.65T>G (p.Leu22Arg)
c.2075T>G (p.Leu692Arg)
c.2099T>G (p.Leu700Arg)
c.2096T>G (p.Leu699Arg)
c.1064T>G (p.Leu355Arg)
c.1316T>G (p.Leu439Arg)
n.2072T>G
n.2129T>G
n.2092T>G
15g.42730700A>GCA392042522CDAN1c.2072T>C (p.Leu691Pro)
c.*1250T>C (n.*1250T>C)
c.65T>C (p.Leu22Pro)
c.2075T>C (p.Leu692Pro)
c.2099T>C (p.Leu700Pro)
c.2096T>C (p.Leu699Pro)
c.1064T>C (p.Leu355Pro)
c.1316T>C (p.Leu439Pro)
n.2072T>C
n.2129T>C
n.2092T>C
15g.42730700A>TCA392042523CDAN1c.2072T>A (p.Leu691His)
c.*1250T>A (n.*1250T>A)
c.65T>A (p.Leu22His)
c.2075T>A (p.Leu692His)
c.2099T>A (p.Leu700His)
c.2096T>A (p.Leu699His)
c.1064T>A (p.Leu355His)
c.1316T>A (p.Leu439His)
n.2072T>A
n.2129T>A
n.2092T>A
15g.42730700dupCA2695220031CDAN1c.2072dup (p.Thr692HisfsTer13)
c.*1250dup (n.*1250dup)
c.65dup (p.Thr23HisfsTer13)
c.2075dup (p.Thr693HisfsTer13)
c.2099dup (p.Thr701HisfsTer13)
c.2096dup (p.Thr700HisfsTer13)
c.1064dup (p.Thr356HisfsTer13)
c.1316dup (p.Thr440HisfsTer13)
n.2072dup
n.2129dup
n.2092dup
15g.42730701G>ACA392042524CDAN1c.2071C>T (p.Leu691Phe)
c.*1249C>T (n.*1249C>T)
c.64C>T (p.Leu22Phe)
c.2074C>T (p.Leu692Phe)
c.2098C>T (p.Leu700Phe)
c.2095C>T (p.Leu699Phe)
c.1063C>T (p.Leu355Phe)
c.1315C>T (p.Leu439Phe)
n.2071C>T
n.2128C>T
n.2091C>T
 dbSNP
15g.42730701G>CCA392042528CDAN1c.2071C>G (p.Leu691Val)
c.*1249C>G (n.*1249C>G)
c.64C>G (p.Leu22Val)
c.2074C>G (p.Leu692Val)
c.2098C>G (p.Leu700Val)
c.2095C>G (p.Leu699Val)
c.1063C>G (p.Leu355Val)
c.1315C>G (p.Leu439Val)
n.2071C>G
n.2128C>G
n.2091C>G
15g.42730701G=CA2172870133CDAN1c.2071C= (p.Leu691=)
c.*1249C= (n.*1249C=)
c.64C= (p.Leu22=)
c.2074C= (p.Leu692=)
c.2098C= (p.Leu700=)
c.2095C= (p.Leu699=)
c.1063C= (p.Leu355=)
c.1315C= (p.Leu439=)
n.2071C=
n.2128C=
n.2091C=
15g.42730701G>TCA392042531CDAN1c.2071C>A (p.Leu691Ile)
c.*1249C>A (n.*1249C>A)
c.64C>A (p.Leu22Ile)
c.2074C>A (p.Leu692Ile)
c.2098C>A (p.Leu700Ile)
c.2095C>A (p.Leu699Ile)
c.1063C>A (p.Leu355Ile)
c.1315C>A (p.Leu439Ile)
n.2071C>A
n.2128C>A
n.2091C>A
15g.42730702C>ACA489895247CDAN1c.2070G>T (p.Val690=)
c.*1248G>T (n.*1248G>T)
c.63G>T (p.Val21=)
c.2073G>T (p.Val691=)
c.2097G>T (p.Val699=)
c.2094G>T (p.Val698=)
c.1062G>T (p.Val354=)
c.1314G>T (p.Val438=)
n.2070G>T
n.2127G>T
n.2090G>T
15g.42730702C=CA2172870134CDAN1c.2070G= (p.Val690=)
c.*1248G= (n.*1248G=)
c.63G= (p.Val21=)
c.2073G= (p.Val691=)
c.2097G= (p.Val699=)
c.2094G= (p.Val698=)
c.1062G= (p.Val354=)
c.1314G= (p.Val438=)
n.2070G=
n.2127G=
n.2090G=
15g.42730702C>GCA489895248CDAN1c.2070G>C (p.Val690=)
c.*1248G>C (n.*1248G>C)
c.63G>C (p.Val21=)
c.2073G>C (p.Val691=)
c.2097G>C (p.Val699=)
c.2094G>C (p.Val698=)
c.1062G>C (p.Val354=)
c.1314G>C (p.Val438=)
n.2070G>C
n.2127G>C
n.2090G>C
15g.42730702C>TCA489895249CDAN1c.2070G>A (p.Val690=)
c.*1248G>A (n.*1248G>A)
c.63G>A (p.Val21=)
c.2073G>A (p.Val691=)
c.2097G>A (p.Val699=)
c.2094G>A (p.Val698=)
c.1062G>A (p.Val354=)
c.1314G>A (p.Val438=)
n.2070G>A
n.2127G>A
n.2090G>A
 dbSNP gnomAD v4
15g.42730703A>CCA392042533CDAN1c.2069T>G (p.Val690Gly)
c.*1247T>G (n.*1247T>G)
c.62T>G (p.Val21Gly)
c.2072T>G (p.Val691Gly)
c.2096T>G (p.Val699Gly)
c.2093T>G (p.Val698Gly)
c.1061T>G (p.Val354Gly)
c.1313T>G (p.Val438Gly)
n.2069T>G
n.2126T>G
n.2089T>G
15g.42730703A>GCA392042534CDAN1c.2069T>C (p.Val690Ala)
c.*1247T>C (n.*1247T>C)
c.62T>C (p.Val21Ala)
c.2072T>C (p.Val691Ala)
c.2096T>C (p.Val699Ala)
c.2093T>C (p.Val698Ala)
c.1061T>C (p.Val354Ala)
c.1313T>C (p.Val438Ala)
n.2069T>C
n.2126T>C
n.2089T>C
15g.42730703A>TCA392042536CDAN1c.2069T>A (p.Val690Glu)
c.*1247T>A (n.*1247T>A)
c.62T>A (p.Val21Glu)
c.2072T>A (p.Val691Glu)
c.2096T>A (p.Val699Glu)
c.2093T>A (p.Val698Glu)
c.1061T>A (p.Val354Glu)
c.1313T>A (p.Val438Glu)
n.2069T>A
n.2126T>A
n.2089T>A
 gnomAD v4
15g.42730704C>ACA392042543CDAN1c.2068G>T (p.Val690Leu)
c.*1246G>T (n.*1246G>T)
c.61G>T (p.Val21Leu)
c.2071G>T (p.Val691Leu)
c.2095G>T (p.Val699Leu)
c.2092G>T (p.Val698Leu)
c.1060G>T (p.Val354Leu)
c.1312G>T (p.Val438Leu)
n.2068G>T
n.2125G>T
n.2088G>T
15g.42730704C=CA2172870135CDAN1c.2068G= (p.Val690=)
c.*1246G= (n.*1246G=)
c.61G= (p.Val21=)
c.2071G= (p.Val691=)
c.2095G= (p.Val699=)
c.2092G= (p.Val698=)
c.1060G= (p.Val354=)
c.1312G= (p.Val438=)
n.2068G=
n.2125G=
n.2088G=
15g.42730704C>GCA392042538CDAN1c.2068G>C (p.Val690Leu)
c.*1246G>C (n.*1246G>C)
c.61G>C (p.Val21Leu)
c.2071G>C (p.Val691Leu)
c.2095G>C (p.Val699Leu)
c.2092G>C (p.Val698Leu)
c.1060G>C (p.Val354Leu)
c.1312G>C (p.Val438Leu)
n.2068G>C
n.2125G>C
n.2088G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.42730704C>TCA392042541CDAN1c.2068G>A (p.Val690Met)
c.*1246G>A (n.*1246G>A)
c.61G>A (p.Val21Met)
c.2071G>A (p.Val691Met)
c.2095G>A (p.Val699Met)
c.2092G>A (p.Val698Met)
c.1060G>A (p.Val354Met)
c.1312G>A (p.Val438Met)
n.2068G>A
n.2125G>A
n.2088G>A
15g.42730705C>ACA489895253CDAN1c.2067G>T (p.Ala689=)
c.*1245G>T (n.*1245G>T)
c.60G>T (p.Ala20=)
c.2070G>T (p.Ala690=)
c.2094G>T (p.Ala698=)
c.2091G>T (p.Ala697=)
c.1059G>T (p.Ala353=)
c.1311G>T (p.Ala437=)
n.2067G>T
n.2124G>T
n.2087G>T
15g.42730705C=CA2172870136CDAN1c.2067G= (p.Ala689=)
c.*1245G= (n.*1245G=)
c.60G= (p.Ala20=)
c.2070G= (p.Ala690=)
c.2094G= (p.Ala698=)
c.2091G= (p.Ala697=)
c.1059G= (p.Ala353=)
c.1311G= (p.Ala437=)
n.2067G=
n.2124G=
n.2087G=
15g.42730705C>GCA489895254CDAN1c.2067G>C (p.Ala689=)
c.*1245G>C (n.*1245G>C)
c.60G>C (p.Ala20=)
c.2070G>C (p.Ala690=)
c.2094G>C (p.Ala698=)
c.2091G>C (p.Ala697=)
c.1059G>C (p.Ala353=)
c.1311G>C (p.Ala437=)
n.2067G>C
n.2124G>C
n.2087G>C
15g.42730705C>TCA7515827CDAN1c.2067G>A (p.Ala689=)
c.*1245G>A (n.*1245G>A)
c.60G>A (p.Ala20=)
c.2070G>A (p.Ala690=)
c.2094G>A (p.Ala698=)
c.2091G>A (p.Ala697=)
c.1059G>A (p.Ala353=)
c.1311G>A (p.Ala437=)
n.2067G>A
n.2124G>A
n.2087G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730706G>ACA7515828CDAN1c.2066C>T (p.Ala689Val)
c.*1244C>T (n.*1244C>T)
c.59C>T (p.Ala20Val)
c.2069C>T (p.Ala690Val)
c.2093C>T (p.Ala698Val)
c.2090C>T (p.Ala697Val)
c.1058C>T (p.Ala353Val)
c.1310C>T (p.Ala437Val)
n.2066C>T
n.2123C>T
n.2086C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730706G>CCA392042549CDAN1c.2066C>G (p.Ala689Gly)
c.*1244C>G (n.*1244C>G)
c.59C>G (p.Ala20Gly)
c.2069C>G (p.Ala690Gly)
c.2093C>G (p.Ala698Gly)
c.2090C>G (p.Ala697Gly)
c.1058C>G (p.Ala353Gly)
c.1310C>G (p.Ala437Gly)
n.2066C>G
n.2123C>G
n.2086C>G
15g.42730706G=CA2172870137CDAN1c.2066C= (p.Ala689=)
c.*1244C= (n.*1244C=)
c.59C= (p.Ala20=)
c.2069C= (p.Ala690=)
c.2093C= (p.Ala698=)
c.2090C= (p.Ala697=)
c.1058C= (p.Ala353=)
c.1310C= (p.Ala437=)
n.2066C=
n.2123C=
n.2086C=
15g.42730706G>TCA392042552CDAN1c.2066C>A (p.Ala689Glu)
c.*1244C>A (n.*1244C>A)
c.59C>A (p.Ala20Glu)
c.2069C>A (p.Ala690Glu)
c.2093C>A (p.Ala698Glu)
c.2090C>A (p.Ala697Glu)
c.1058C>A (p.Ala353Glu)
c.1310C>A (p.Ala437Glu)
n.2066C>A
n.2123C>A
n.2086C>A
 ClinVar dbSNP
15g.42730707C>ACA392042555CDAN1c.2065G>T (p.Ala689Ser)
c.*1243G>T (n.*1243G>T)
c.58G>T (p.Ala20Ser)
c.2068G>T (p.Ala690Ser)
c.2092G>T (p.Ala698Ser)
c.2089G>T (p.Ala697Ser)
c.1057G>T (p.Ala353Ser)
c.1309G>T (p.Ala437Ser)
n.2065G>T
n.2122G>T
n.2085G>T
15g.42730707C=CA2172870138CDAN1c.2065G= (p.Ala689=)
c.*1243G= (n.*1243G=)
c.58G= (p.Ala20=)
c.2068G= (p.Ala690=)
c.2092G= (p.Ala698=)
c.2089G= (p.Ala697=)
c.1057G= (p.Ala353=)
c.1309G= (p.Ala437=)
n.2065G=
n.2122G=
n.2085G=
15g.42730707C>GCA392042557CDAN1c.2065G>C (p.Ala689Pro)
c.*1243G>C (n.*1243G>C)
c.58G>C (p.Ala20Pro)
c.2068G>C (p.Ala690Pro)
c.2092G>C (p.Ala698Pro)
c.2089G>C (p.Ala697Pro)
c.1057G>C (p.Ala353Pro)
c.1309G>C (p.Ala437Pro)
n.2065G>C
n.2122G>C
n.2085G>C
15g.42730707C>TCA392042559CDAN1c.2065G>A (p.Ala689Thr)
c.*1243G>A (n.*1243G>A)
c.58G>A (p.Ala20Thr)
c.2068G>A (p.Ala690Thr)
c.2092G>A (p.Ala698Thr)
c.2089G>A (p.Ala697Thr)
c.1057G>A (p.Ala353Thr)
c.1309G>A (p.Ala437Thr)
n.2065G>A
n.2122G>A
n.2085G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.42730708C>ACA489895257CDAN1c.2064G>T (p.Arg688=)
c.*1242G>T (n.*1242G>T)
c.57G>T (p.Arg19=)
c.2067G>T (p.Arg689=)
c.2091G>T (p.Arg697=)
c.2088G>T (p.Arg696=)
c.1056G>T (p.Arg352=)
c.1308G>T (p.Arg436=)
n.2064G>T
n.2121G>T
n.2084G>T
15g.42730708C>GCA489895256CDAN1c.2064G>C (p.Arg688=)
c.*1242G>C (n.*1242G>C)
c.57G>C (p.Arg19=)
c.2067G>C (p.Arg689=)
c.2091G>C (p.Arg697=)
c.2088G>C (p.Arg696=)
c.1056G>C (p.Arg352=)
c.1308G>C (p.Arg436=)
n.2064G>C
n.2121G>C
n.2084G>C
15g.42730708C>TCA489895255CDAN1c.2064G>A (p.Arg688=)
c.*1242G>A (n.*1242G>A)
c.57G>A (p.Arg19=)
c.2067G>A (p.Arg689=)
c.2091G>A (p.Arg697=)
c.2088G>A (p.Arg696=)
c.1056G>A (p.Arg352=)
c.1308G>A (p.Arg436=)
n.2064G>A
n.2121G>A
n.2084G>A
15g.42730709C>ACA392042562CDAN1c.2063G>T (p.Arg688Leu)
c.*1241G>T (n.*1241G>T)
c.56G>T (p.Arg19Leu)
c.2066G>T (p.Arg689Leu)
c.2090G>T (p.Arg697Leu)
c.2087G>T (p.Arg696Leu)
c.1055G>T (p.Arg352Leu)
c.1307G>T (p.Arg436Leu)
n.2063G>T
n.2120G>T
n.2083G>T
15g.42730709C=CA2172870139CDAN1c.2063G= (p.Arg688=)
c.*1241G= (n.*1241G=)
c.56G= (p.Arg19=)
c.2066G= (p.Arg689=)
c.2090G= (p.Arg697=)
c.2087G= (p.Arg696=)
c.1055G= (p.Arg352=)
c.1307G= (p.Arg436=)
n.2063G=
n.2120G=
n.2083G=
15g.42730709C>GCA392042565CDAN1c.2063G>C (p.Arg688Pro)
c.*1241G>C (n.*1241G>C)
c.56G>C (p.Arg19Pro)
c.2066G>C (p.Arg689Pro)
c.2090G>C (p.Arg697Pro)
c.2087G>C (p.Arg696Pro)
c.1055G>C (p.Arg352Pro)
c.1307G>C (p.Arg436Pro)
n.2063G>C
n.2120G>C
n.2083G>C
15g.42730709C>TCA7515829CDAN1c.2063G>A (p.Arg688Gln)
c.*1241G>A (n.*1241G>A)
c.56G>A (p.Arg19Gln)
c.2066G>A (p.Arg689Gln)
c.2090G>A (p.Arg697Gln)
c.2087G>A (p.Arg696Gln)
c.1055G>A (p.Arg352Gln)
c.1307G>A (p.Arg436Gln)
n.2063G>A
n.2120G>A
n.2083G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730710G>ACA7515830CDAN1c.2062C>T (p.Arg688Trp)
c.*1240C>T (n.*1240C>T)
c.55C>T (p.Arg19Trp)
c.2065C>T (p.Arg689Trp)
c.2089C>T (p.Arg697Trp)
c.2086C>T (p.Arg696Trp)
c.1054C>T (p.Arg352Trp)
c.1306C>T (p.Arg436Trp)
n.2062C>T
n.2119C>T
n.2082C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.42730710G>CCA392042570CDAN1c.2062C>G (p.Arg688Gly)
c.*1240C>G (n.*1240C>G)
c.55C>G (p.Arg19Gly)
c.2065C>G (p.Arg689Gly)
c.2089C>G (p.Arg697Gly)
c.2086C>G (p.Arg696Gly)
c.1054C>G (p.Arg352Gly)
c.1306C>G (p.Arg436Gly)
n.2062C>G
n.2119C>G
n.2082C>G
15g.42730710G=CA2172870140CDAN1c.2062C= (p.Arg688=)
c.*1240C= (n.*1240C=)
c.55C= (p.Arg19=)
c.2065C= (p.Arg689=)
c.2089C= (p.Arg697=)
c.2086C= (p.Arg696=)
c.1054C= (p.Arg352=)
c.1306C= (p.Arg436=)
n.2062C=
n.2119C=
n.2082C=
15g.42730710G>TCA489895258CDAN1c.2062C>A (p.Arg688=)
c.*1240C>A (n.*1240C>A)
c.55C>A (p.Arg19=)
c.2065C>A (p.Arg689=)
c.2089C>A (p.Arg697=)
c.2086C>A (p.Arg696=)
c.1054C>A (p.Arg352=)
c.1306C>A (p.Arg436=)
n.2062C>A
n.2119C>A
n.2082C>A
 dbSNP
15g.42730713_42730716delCA2628073642CDAN1c.2059_2062del (p.Arg687GlyfsTer?)
c.*1237_*1240del (n.*1237_*1240del)
c.52_55del (p.Arg18GlyfsTer?)
c.2062_2065del (p.Arg688GlyfsTer?)
c.2086_2089del (p.Arg696GlyfsTer?)
c.2083_2086del (p.Arg695GlyfsTer?)
c.1051_1054del (p.Arg351GlyfsTer?)
c.1303_1306del (p.Arg435GlyfsTer?)
n.2059_2062del
n.2116_2119del
n.2079_2082del
 gnomAD v4
15g.42730711G>ACA7515831CDAN1c.2061C>T (p.Arg687=)
c.*1239C>T (n.*1239C>T)
c.54C>T (p.Arg18=)
c.2064C>T (p.Arg688=)
c.2088C>T (p.Arg696=)
c.2085C>T (p.Arg695=)
c.1053C>T (p.Arg351=)
c.1305C>T (p.Arg435=)
n.2061C>T
n.2118C>T
n.2081C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42730711G>CCA489895260CDAN1c.2061C>G (p.Arg687=)
c.*1239C>G (n.*1239C>G)
c.54C>G (p.Arg18=)
c.2064C>G (p.Arg688=)
c.2088C>G (p.Arg696=)
c.2085C>G (p.Arg695=)
c.1053C>G (p.Arg351=)
c.1305C>G (p.Arg435=)
n.2061C>G
n.2118C>G
n.2081C>G
15g.42730711G=CA2172870141CDAN1c.2061C= (p.Arg687=)
c.*1239C= (n.*1239C=)
c.54C= (p.Arg18=)
c.2064C= (p.Arg688=)
c.2088C= (p.Arg696=)
c.2085C= (p.Arg695=)
c.1053C= (p.Arg351=)
c.1305C= (p.Arg435=)
n.2061C=
n.2118C=
n.2081C=
15g.42730711G>TCA489895259CDAN1c.2061C>A (p.Arg687=)
c.*1239C>A (n.*1239C>A)
c.54C>A (p.Arg18=)
c.2064C>A (p.Arg688=)
c.2088C>A (p.Arg696=)
c.2085C>A (p.Arg695=)
c.1053C>A (p.Arg351=)
c.1305C>A (p.Arg435=)
n.2061C>A
n.2118C>A
n.2081C>A
15g.42730712C>ACA392042578CDAN1c.2060G>T (p.Arg687Leu)
c.*1238G>T (n.*1238G>T)
c.53G>T (p.Arg18Leu)
c.2063G>T (p.Arg688Leu)
c.2087G>T (p.Arg696Leu)
c.2084G>T (p.Arg695Leu)
c.1052G>T (p.Arg351Leu)
c.1304G>T (p.Arg435Leu)
n.2060G>T
n.2117G>T
n.2080G>T
15g.42730712C=CA2172870142CDAN1c.2060G= (p.Arg687=)
c.*1238G= (n.*1238G=)
c.53G= (p.Arg18=)
c.2063G= (p.Arg688=)
c.2087G= (p.Arg696=)
c.2084G= (p.Arg695=)
c.1052G= (p.Arg351=)
c.1304G= (p.Arg435=)
n.2060G=
n.2117G=
n.2080G=
15g.42730712C>GCA392042574CDAN1c.2060G>C (p.Arg687Pro)
c.*1238G>C (n.*1238G>C)
c.53G>C (p.Arg18Pro)
c.2063G>C (p.Arg688Pro)
c.2087G>C (p.Arg696Pro)
c.2084G>C (p.Arg695Pro)
c.1052G>C (p.Arg351Pro)
c.1304G>C (p.Arg435Pro)
n.2060G>C
n.2117G>C
n.2080G>C
 dbSNP gnomAD v3 gnomAD v4
15g.42730712C>TCA7515832CDAN1c.2060G>A (p.Arg687His)
c.*1238G>A (n.*1238G>A)
c.53G>A (p.Arg18His)
c.2063G>A (p.Arg688His)
c.2087G>A (p.Arg696His)
c.2084G>A (p.Arg695His)
c.1052G>A (p.Arg351His)
c.1304G>A (p.Arg435His)
n.2060G>A
n.2117G>A
n.2080G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730713G>ACA7515833CDAN1c.2059C>T (p.Arg687Cys)
c.*1237C>T (n.*1237C>T)
c.52C>T (p.Arg18Cys)
c.2062C>T (p.Arg688Cys)
c.2086C>T (p.Arg696Cys)
c.2083C>T (p.Arg695Cys)
c.1051C>T (p.Arg351Cys)
c.1303C>T (p.Arg435Cys)
n.2059C>T
n.2116C>T
n.2079C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730713G>CCA392042582CDAN1c.2059C>G (p.Arg687Gly)
c.*1237C>G (n.*1237C>G)
c.52C>G (p.Arg18Gly)
c.2062C>G (p.Arg688Gly)
c.2086C>G (p.Arg696Gly)
c.2083C>G (p.Arg695Gly)
c.1051C>G (p.Arg351Gly)
c.1303C>G (p.Arg435Gly)
n.2059C>G
n.2116C>G
n.2079C>G
15g.42730713G=CA2172870143CDAN1c.2059C= (p.Arg687=)
c.*1237C= (n.*1237C=)
c.52C= (p.Arg18=)
c.2062C= (p.Arg688=)
c.2086C= (p.Arg696=)
c.2083C= (p.Arg695=)
c.1051C= (p.Arg351=)
c.1303C= (p.Arg435=)
n.2059C=
n.2116C=
n.2079C=
15g.42730713G>TCA392042585CDAN1c.2059C>A (p.Arg687Ser)
c.*1237C>A (n.*1237C>A)
c.52C>A (p.Arg18Ser)
c.2062C>A (p.Arg688Ser)
c.2086C>A (p.Arg696Ser)
c.2083C>A (p.Arg695Ser)
c.1051C>A (p.Arg351Ser)
c.1303C>A (p.Arg435Ser)
n.2059C>A
n.2116C>A
n.2079C>A
15g.42730714G>ACA489895262CDAN1c.2058C>T (p.Ala686=)
c.*1236C>T (n.*1236C>T)
c.51C>T (p.Ala17=)
c.2061C>T (p.Ala687=)
c.2085C>T (p.Ala695=)
c.2082C>T (p.Ala694=)
c.1050C>T (p.Ala350=)
c.1302C>T (p.Ala434=)
n.2058C>T
n.2115C>T
n.2078C>T
 dbSNP gnomAD v4
15g.42730714G>CCA489895264CDAN1c.2058C>G (p.Ala686=)
c.*1236C>G (n.*1236C>G)
c.51C>G (p.Ala17=)
c.2061C>G (p.Ala687=)
c.2085C>G (p.Ala695=)
c.2082C>G (p.Ala694=)
c.1050C>G (p.Ala350=)
c.1302C>G (p.Ala434=)
n.2058C>G
n.2115C>G
n.2078C>G
15g.42730714G=CA2172870144CDAN1c.2058C= (p.Ala686=)
c.*1236C= (n.*1236C=)
c.51C= (p.Ala17=)
c.2061C= (p.Ala687=)
c.2085C= (p.Ala695=)
c.2082C= (p.Ala694=)
c.1050C= (p.Ala350=)
c.1302C= (p.Ala434=)
n.2058C=
n.2115C=
n.2078C=
15g.42730714G>TCA489895263CDAN1c.2058C>A (p.Ala686=)
c.*1236C>A (n.*1236C>A)
c.51C>A (p.Ala17=)
c.2061C>A (p.Ala687=)
c.2085C>A (p.Ala695=)
c.2082C>A (p.Ala694=)
c.1050C>A (p.Ala350=)
c.1302C>A (p.Ala434=)
n.2058C>A
n.2115C>A
n.2078C>A
15g.42730715G>ACA392042593CDAN1c.2057C>T (p.Ala686Val)
c.*1235C>T (n.*1235C>T)
c.50C>T (p.Ala17Val)
c.2060C>T (p.Ala687Val)
c.2084C>T (p.Ala695Val)
c.2081C>T (p.Ala694Val)
c.1049C>T (p.Ala350Val)
c.1301C>T (p.Ala434Val)
n.2057C>T
n.2114C>T
n.2077C>T
15g.42730715G>CCA392042591CDAN1c.2057C>G (p.Ala686Gly)
c.*1235C>G (n.*1235C>G)
c.50C>G (p.Ala17Gly)
c.2060C>G (p.Ala687Gly)
c.2084C>G (p.Ala695Gly)
c.2081C>G (p.Ala694Gly)
c.1049C>G (p.Ala350Gly)
c.1301C>G (p.Ala434Gly)
n.2057C>G
n.2114C>G
n.2077C>G
15g.42730715G>TCA392042588CDAN1c.2057C>A (p.Ala686Asp)
c.*1235C>A (n.*1235C>A)
c.50C>A (p.Ala17Asp)
c.2060C>A (p.Ala687Asp)
c.2084C>A (p.Ala695Asp)
c.2081C>A (p.Ala694Asp)
c.1049C>A (p.Ala350Asp)
c.1301C>A (p.Ala434Asp)
n.2057C>A
n.2114C>A
n.2077C>A
15g.42730716C>ACA392042596CDAN1c.2056G>T (p.Ala686Ser)
c.*1234G>T (n.*1234G>T)
c.49G>T (p.Ala17Ser)
c.2059G>T (p.Ala687Ser)
c.2083G>T (p.Ala695Ser)
c.2080G>T (p.Ala694Ser)
c.1048G>T (p.Ala350Ser)
c.1300G>T (p.Ala434Ser)
n.2056G>T
n.2113G>T
n.2076G>T
15g.42730716C>GCA392042598CDAN1c.2056G>C (p.Ala686Pro)
c.*1234G>C (n.*1234G>C)
c.49G>C (p.Ala17Pro)
c.2059G>C (p.Ala687Pro)
c.2083G>C (p.Ala695Pro)
c.2080G>C (p.Ala694Pro)
c.1048G>C (p.Ala350Pro)
c.1300G>C (p.Ala434Pro)
n.2056G>C
n.2113G>C
n.2076G>C
15g.42730716C>TCA392042601CDAN1c.2056G>A (p.Ala686Thr)
c.*1234G>A (n.*1234G>A)
c.49G>A (p.Ala17Thr)
c.2059G>A (p.Ala687Thr)
c.2083G>A (p.Ala695Thr)
c.2080G>A (p.Ala694Thr)
c.1048G>A (p.Ala350Thr)
c.1300G>A (p.Ala434Thr)
n.2056G>A
n.2113G>A
n.2076G>A
 gnomAD v4
15g.42730717C>ACA392042605CDAN1c.2055G>T (p.Gln685His)
c.*1233G>T (n.*1233G>T)
c.48G>T (p.Gln16His)
c.2058G>T (p.Gln686His)
c.2082G>T (p.Gln694His)
c.2079G>T (p.Gln693His)
c.1047G>T (p.Gln349His)
c.1299G>T (p.Gln433His)
n.2055G>T
n.2112G>T
n.2075G>T
15g.42730717C=CA2172870145CDAN1c.2055G= (p.Gln685=)
c.*1233G= (n.*1233G=)
c.48G= (p.Gln16=)
c.2058G= (p.Gln686=)
c.2082G= (p.Gln694=)
c.2079G= (p.Gln693=)
c.1047G= (p.Gln349=)
c.1299G= (p.Gln433=)
n.2055G=
n.2112G=
n.2075G=
15g.42730717C>GCA392042607CDAN1c.2055G>C (p.Gln685His)
c.*1233G>C (n.*1233G>C)
c.48G>C (p.Gln16His)
c.2058G>C (p.Gln686His)
c.2082G>C (p.Gln694His)
c.2079G>C (p.Gln693His)
c.1047G>C (p.Gln349His)
c.1299G>C (p.Gln433His)
n.2055G>C
n.2112G>C
n.2075G>C
15g.42730717C>TCA7515834CDAN1c.2055G>A (p.Gln685=)
c.*1233G>A (n.*1233G>A)
c.48G>A (p.Gln16=)
c.2058G>A (p.Gln686=)
c.2082G>A (p.Gln694=)
c.2079G>A (p.Gln693=)
c.1047G>A (p.Gln349=)
c.1299G>A (p.Gln433=)
n.2055G>A
n.2112G>A
n.2075G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42730718T>ACA392042611CDAN1c.2054A>T (p.Gln685Leu)
c.*1232A>T (n.*1232A>T)
c.47A>T (p.Gln16Leu)
c.2057A>T (p.Gln686Leu)
c.2081A>T (p.Gln694Leu)
c.2078A>T (p.Gln693Leu)
c.1046A>T (p.Gln349Leu)
c.1298A>T (p.Gln433Leu)
n.2054A>T
n.2111A>T
n.2074A>T
15g.42730718T>CCA392042615CDAN1c.2054A>G (p.Gln685Arg)
c.*1232A>G (n.*1232A>G)
c.47A>G (p.Gln16Arg)
c.2057A>G (p.Gln686Arg)
c.2081A>G (p.Gln694Arg)
c.2078A>G (p.Gln693Arg)
c.1046A>G (p.Gln349Arg)
c.1298A>G (p.Gln433Arg)
n.2054A>G
n.2111A>G
n.2074A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.42730718T>GCA392042613CDAN1c.2054A>C (p.Gln685Pro)
c.*1232A>C (n.*1232A>C)
c.47A>C (p.Gln16Pro)
c.2057A>C (p.Gln686Pro)
c.2081A>C (p.Gln694Pro)
c.2078A>C (p.Gln693Pro)
c.1046A>C (p.Gln349Pro)
c.1298A>C (p.Gln433Pro)
n.2054A>C
n.2111A>C
n.2074A>C
15g.42730718T=CA2172870146CDAN1c.2054A= (p.Gln685=)
c.*1232A= (n.*1232A=)
c.47A= (p.Gln16=)
c.2057A= (p.Gln686=)
c.2081A= (p.Gln694=)
c.2078A= (p.Gln693=)
c.1046A= (p.Gln349=)
c.1298A= (p.Gln433=)
n.2054A=
n.2111A=
n.2074A=
15g.42730719G>ACA392042619CDAN1c.2053C>T (p.Gln685Ter)
c.*1231C>T (n.*1231C>T)
c.46C>T (p.Gln16Ter)
c.2056C>T (p.Gln686Ter)
c.2080C>T (p.Gln694Ter)
c.2077C>T (p.Gln693Ter)
c.1045C>T (p.Gln349Ter)
c.1297C>T (p.Gln433Ter)
n.2053C>T
n.2110C>T
n.2073C>T
15g.42730719G>CCA392042621CDAN1c.2053C>G (p.Gln685Glu)
c.*1231C>G (n.*1231C>G)
c.46C>G (p.Gln16Glu)
c.2056C>G (p.Gln686Glu)
c.2080C>G (p.Gln694Glu)
c.2077C>G (p.Gln693Glu)
c.1045C>G (p.Gln349Glu)
c.1297C>G (p.Gln433Glu)
n.2053C>G
n.2110C>G
n.2073C>G
15g.42730719G>TCA392042624CDAN1c.2053C>A (p.Gln685Lys)
c.*1231C>A (n.*1231C>A)
c.46C>A (p.Gln16Lys)
c.2056C>A (p.Gln686Lys)
c.2080C>A (p.Gln694Lys)
c.2077C>A (p.Gln693Lys)
c.1045C>A (p.Gln349Lys)
c.1297C>A (p.Gln433Lys)
n.2053C>A
n.2110C>A
n.2073C>A
15g.42730720C>ACA489895271CDAN1c.2052G>T (p.Leu684=)
c.*1230G>T (n.*1230G>T)
c.45G>T (p.Leu15=)
c.2055G>T (p.Leu685=)
c.2079G>T (p.Leu693=)
c.2076G>T (p.Leu692=)
c.1044G>T (p.Leu348=)
c.1296G>T (p.Leu432=)
n.2052G>T
n.2109G>T
n.2072G>T
15g.42730720C>GCA489895272CDAN1c.2052G>C (p.Leu684=)
c.*1230G>C (n.*1230G>C)
c.45G>C (p.Leu15=)
c.2055G>C (p.Leu685=)
c.2079G>C (p.Leu693=)
c.2076G>C (p.Leu692=)
c.1044G>C (p.Leu348=)
c.1296G>C (p.Leu432=)
n.2052G>C
n.2109G>C
n.2072G>C
15g.42730720C>TCA489895273CDAN1c.2052G>A (p.Leu684=)
c.*1230G>A (n.*1230G>A)
c.45G>A (p.Leu15=)
c.2055G>A (p.Leu685=)
c.2079G>A (p.Leu693=)
c.2076G>A (p.Leu692=)
c.1044G>A (p.Leu348=)
c.1296G>A (p.Leu432=)
n.2052G>A
n.2109G>A
n.2072G>A
 ClinVar gnomAD v4
15g.42730721delCA2628073659CDAN1c.2051del (p.Leu684ArgfsTer?)
c.*1229del (n.*1229del)
c.44del (p.Leu15ArgfsTer?)
c.2054del (p.Leu685ArgfsTer?)
c.2078del (p.Leu693ArgfsTer?)
c.2075del (p.Leu692ArgfsTer?)
c.1043del (p.Leu348ArgfsTer?)
c.1295del (p.Leu432ArgfsTer?)
n.2051del
n.2108del
n.2071del
 gnomAD v4
15g.42730721A>CCA392042626CDAN1c.2051T>G (p.Leu684Arg)
c.*1229T>G (n.*1229T>G)
c.44T>G (p.Leu15Arg)
c.2054T>G (p.Leu685Arg)
c.2078T>G (p.Leu693Arg)
c.2075T>G (p.Leu692Arg)
c.1043T>G (p.Leu348Arg)
c.1295T>G (p.Leu432Arg)
n.2051T>G
n.2108T>G
n.2071T>G
15g.42730721A>GCA392042628CDAN1c.2051T>C (p.Leu684Pro)
c.*1229T>C (n.*1229T>C)
c.44T>C (p.Leu15Pro)
c.2054T>C (p.Leu685Pro)
c.2078T>C (p.Leu693Pro)
c.2075T>C (p.Leu692Pro)
c.1043T>C (p.Leu348Pro)
c.1295T>C (p.Leu432Pro)
n.2051T>C
n.2108T>C
n.2071T>C
15g.42730721A>TCA392042630CDAN1c.2051T>A (p.Leu684Gln)
c.*1229T>A (n.*1229T>A)
c.44T>A (p.Leu15Gln)
c.2054T>A (p.Leu685Gln)
c.2078T>A (p.Leu693Gln)
c.2075T>A (p.Leu692Gln)
c.1043T>A (p.Leu348Gln)
c.1295T>A (p.Leu432Gln)
n.2051T>A
n.2108T>A
n.2071T>A
15g.42730721dupCA2628073660CDAN1c.2051dup (p.Gln685AlafsTer20)
c.*1229dup (n.*1229dup)
c.44dup (p.Gln16AlafsTer20)
c.2054dup (p.Gln686AlafsTer20)
c.2078dup (p.Gln694AlafsTer20)
c.2075dup (p.Gln693AlafsTer20)
c.1043dup (p.Gln349AlafsTer20)
c.1295dup (p.Gln433AlafsTer20)
n.2051dup
n.2108dup
n.2071dup
 gnomAD v4
15g.42730722G>ACA489895275CDAN1c.2050C>T (p.Leu684=)
c.*1228C>T (n.*1228C>T)
c.43C>T (p.Leu15=)
c.2053C>T (p.Leu685=)
c.2077C>T (p.Leu693=)
c.2074C>T (p.Leu692=)
c.1042C>T (p.Leu348=)
c.1294C>T (p.Leu432=)
n.2050C>T
n.2107C>T
n.2070C>T
 dbSNP gnomAD v2 gnomAD v4
15g.42730722G>CCA392042633CDAN1c.2050C>G (p.Leu684Val)
c.*1228C>G (n.*1228C>G)
c.43C>G (p.Leu15Val)
c.2053C>G (p.Leu685Val)
c.2077C>G (p.Leu693Val)
c.2074C>G (p.Leu692Val)
c.1042C>G (p.Leu348Val)
c.1294C>G (p.Leu432Val)
n.2050C>G
n.2107C>G
n.2070C>G
15g.42730722G=CA2172870147CDAN1c.2050C= (p.Leu684=)
c.*1228C= (n.*1228C=)
c.43C= (p.Leu15=)
c.2053C= (p.Leu685=)
c.2077C= (p.Leu693=)
c.2074C= (p.Leu692=)
c.1042C= (p.Leu348=)
c.1294C= (p.Leu432=)
n.2050C=
n.2107C=
n.2070C=
15g.42730722G>TCA392042635CDAN1c.2050C>A (p.Leu684Met)
c.*1228C>A (n.*1228C>A)
c.43C>A (p.Leu15Met)
c.2053C>A (p.Leu685Met)
c.2077C>A (p.Leu693Met)
c.2074C>A (p.Leu692Met)
c.1042C>A (p.Leu348Met)
c.1294C>A (p.Leu432Met)
n.2050C>A
n.2107C>A
n.2070C>A
 gnomAD v4
15g.42730723C>ACA489895276CDAN1c.2049G>T (p.Gly683=)
c.*1227G>T (n.*1227G>T)
c.42G>T (p.Gly14=)
c.2052G>T (p.Gly684=)
c.2076G>T (p.Gly692=)
c.2073G>T (p.Gly691=)
c.1041G>T (p.Gly347=)
c.1293G>T (p.Gly431=)
n.2049G>T
n.2106G>T
n.2069G>T
 dbSNP
15g.42730723C=CA2172870148CDAN1c.2049G= (p.Gly683=)
c.*1227G= (n.*1227G=)
c.42G= (p.Gly14=)
c.2052G= (p.Gly684=)
c.2076G= (p.Gly692=)
c.2073G= (p.Gly691=)
c.1041G= (p.Gly347=)
c.1293G= (p.Gly431=)
n.2049G=
n.2106G=
n.2069G=
15g.42730723C>GCA489895277CDAN1c.2049G>C (p.Gly683=)
c.*1227G>C (n.*1227G>C)
c.42G>C (p.Gly14=)
c.2052G>C (p.Gly684=)
c.2076G>C (p.Gly692=)
c.2073G>C (p.Gly691=)
c.1041G>C (p.Gly347=)
c.1293G>C (p.Gly431=)
n.2049G>C
n.2106G>C
n.2069G>C
15g.42730723C>TCA489895278CDAN1c.2049G>A (p.Gly683=)
c.*1227G>A (n.*1227G>A)
c.42G>A (p.Gly14=)
c.2052G>A (p.Gly684=)
c.2076G>A (p.Gly692=)
c.2073G>A (p.Gly691=)
c.1041G>A (p.Gly347=)
c.1293G>A (p.Gly431=)
n.2049G>A
n.2106G>A
n.2069G>A
15g.42730723_42730733delCA2628073664CDAN1c.2039_2049del (p.Leu680ProfsTer21)
c.*1217_*1227del (n.*1217_*1227del)
c.32_42del (p.Leu11ProfsTer21)
c.2042_2052del (p.Leu681ProfsTer21)
c.2066_2076del (p.Leu689ProfsTer21)
c.2063_2073del (p.Leu688ProfsTer21)
c.1031_1041del (p.Leu344ProfsTer21)
c.1283_1293del (p.Leu428ProfsTer21)
n.2039_2049del
n.2096_2106del
n.2059_2069del
 gnomAD v4
15g.42730724C>ACA392042637CDAN1c.2048G>T (p.Gly683Val)
c.*1226G>T (n.*1226G>T)
c.41G>T (p.Gly14Val)
c.2051G>T (p.Gly684Val)
c.2075G>T (p.Gly692Val)
c.2072G>T (p.Gly691Val)
c.1040G>T (p.Gly347Val)
c.1292G>T (p.Gly431Val)
n.2048G>T
n.2105G>T
n.2068G>T
15g.42730724C>GCA392042640CDAN1c.2048G>C (p.Gly683Ala)
c.*1226G>C (n.*1226G>C)
c.41G>C (p.Gly14Ala)
c.2051G>C (p.Gly684Ala)
c.2075G>C (p.Gly692Ala)
c.2072G>C (p.Gly691Ala)
c.1040G>C (p.Gly347Ala)
c.1292G>C (p.Gly431Ala)
n.2048G>C
n.2105G>C
n.2068G>C
15g.42730724C>TCA392042642CDAN1c.2048G>A (p.Gly683Glu)
c.*1226G>A (n.*1226G>A)
c.41G>A (p.Gly14Glu)
c.2051G>A (p.Gly684Glu)
c.2075G>A (p.Gly692Glu)
c.2072G>A (p.Gly691Glu)
c.1040G>A (p.Gly347Glu)
c.1292G>A (p.Gly431Glu)
n.2048G>A
n.2105G>A
n.2068G>A
15g.42730725C>ACA392042650CDAN1c.2047G>T (p.Gly683Trp)
c.*1225G>T (n.*1225G>T)
c.40G>T (p.Gly14Trp)
c.2050G>T (p.Gly684Trp)
c.2074G>T (p.Gly692Trp)
c.2071G>T (p.Gly691Trp)
c.1039G>T (p.Gly347Trp)
c.1291G>T (p.Gly431Trp)
n.2047G>T
n.2104G>T
n.2067G>T
15g.42730725C=CA2172870149CDAN1c.2047G= (p.Gly683=)
c.*1225G= (n.*1225G=)
c.40G= (p.Gly14=)
c.2050G= (p.Gly684=)
c.2074G= (p.Gly692=)
c.2071G= (p.Gly691=)
c.1039G= (p.Gly347=)
c.1291G= (p.Gly431=)
n.2047G=
n.2104G=
n.2067G=
15g.42730725C>GCA392042645CDAN1c.2047G>C (p.Gly683Arg)
c.*1225G>C (n.*1225G>C)
c.40G>C (p.Gly14Arg)
c.2050G>C (p.Gly684Arg)
c.2074G>C (p.Gly692Arg)
c.2071G>C (p.Gly691Arg)
c.1039G>C (p.Gly347Arg)
c.1291G>C (p.Gly431Arg)
n.2047G>C
n.2104G>C
n.2067G>C
15g.42730725C>TCA392042647CDAN1c.2047G>A (p.Gly683Arg)
c.*1225G>A (n.*1225G>A)
c.40G>A (p.Gly14Arg)
c.2050G>A (p.Gly684Arg)
c.2074G>A (p.Gly692Arg)
c.2071G>A (p.Gly691Arg)
c.1039G>A (p.Gly347Arg)
c.1291G>A (p.Gly431Arg)
n.2047G>A
n.2104G>A
n.2067G>A
 dbSNP gnomAD v2 gnomAD v4
15g.42730726T>ACA489895280CDAN1c.2046A>T (p.Arg682=)
c.*1224A>T (n.*1224A>T)
c.39A>T (p.Arg13=)
c.2049A>T (p.Arg683=)
c.2073A>T (p.Arg691=)
c.2070A>T (p.Arg690=)
c.1038A>T (p.Arg346=)
c.1290A>T (p.Arg430=)
n.2046A>T
n.2103A>T
n.2066A>T
15g.42730726T>CCA489895281CDAN1c.2046A>G (p.Arg682=)
c.*1224A>G (n.*1224A>G)
c.39A>G (p.Arg13=)
c.2049A>G (p.Arg683=)
c.2073A>G (p.Arg691=)
c.2070A>G (p.Arg690=)
c.1038A>G (p.Arg346=)
c.1290A>G (p.Arg430=)
n.2046A>G
n.2103A>G
n.2066A>G
15g.42730726T>GCA489895284CDAN1c.2046A>C (p.Arg682=)
c.*1224A>C (n.*1224A>C)
c.39A>C (p.Arg13=)
c.2049A>C (p.Arg683=)
c.2073A>C (p.Arg691=)
c.2070A>C (p.Arg690=)
c.1038A>C (p.Arg346=)
c.1290A>C (p.Arg430=)
n.2046A>C
n.2103A>C
n.2066A>C
15g.42730727C>ACA392042653CDAN1c.2045G>T (p.Arg682Leu)
c.*1223G>T (n.*1223G>T)
c.38G>T (p.Arg13Leu)
c.2048G>T (p.Arg683Leu)
c.2072G>T (p.Arg691Leu)
c.2069G>T (p.Arg690Leu)
c.1037G>T (p.Arg346Leu)
c.1289G>T (p.Arg430Leu)
n.2045G>T
n.2102G>T
n.2065G>T
15g.42730727C=CA2172870150CDAN1c.2045G= (p.Arg682=)
c.*1223G= (n.*1223G=)
c.38G= (p.Arg13=)
c.2048G= (p.Arg683=)
c.2072G= (p.Arg691=)
c.2069G= (p.Arg690=)
c.1037G= (p.Arg346=)
c.1289G= (p.Arg430=)
n.2045G=
n.2102G=
n.2065G=
15g.42730727C>GCA392042657CDAN1c.2045G>C (p.Arg682Pro)
c.*1223G>C (n.*1223G>C)
c.38G>C (p.Arg13Pro)
c.2048G>C (p.Arg683Pro)
c.2072G>C (p.Arg691Pro)
c.2069G>C (p.Arg690Pro)
c.1037G>C (p.Arg346Pro)
c.1289G>C (p.Arg430Pro)
n.2045G>C
n.2102G>C
n.2065G>C
15g.42730727C>TCA7515835CDAN1c.2045G>A (p.Arg682Gln)
c.*1223G>A (n.*1223G>A)
c.38G>A (p.Arg13Gln)
c.2048G>A (p.Arg683Gln)
c.2072G>A (p.Arg691Gln)
c.2069G>A (p.Arg690Gln)
c.1037G>A (p.Arg346Gln)
c.1289G>A (p.Arg430Gln)
n.2045G>A
n.2102G>A
n.2065G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.42730727dupCA2628073668CDAN1c.2045dup (p.Gly683ArgfsTer22)
c.*1223dup (n.*1223dup)
c.38dup (p.Gly14ArgfsTer22)
c.2048dup (p.Gly684ArgfsTer22)
c.2072dup (p.Gly692ArgfsTer22)
c.2069dup (p.Gly691ArgfsTer22)
c.1037dup (p.Gly347ArgfsTer22)
c.1289dup (p.Gly431ArgfsTer22)
n.2045dup
n.2102dup
n.2065dup
 gnomAD v4
15g.42730728G>ACA7515836CDAN1c.2044C>T (p.Arg682Ter)
c.*1222C>T (n.*1222C>T)
c.37C>T (p.Arg13Ter)
c.2047C>T (p.Arg683Ter)
c.2071C>T (p.Arg691Ter)
c.2068C>T (p.Arg690Ter)
c.1036C>T (p.Arg346Ter)
c.1288C>T (p.Arg430Ter)
n.2044C>T
n.2101C>T
n.2064C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730728G>CCA392042661CDAN1c.2044C>G (p.Arg682Gly)
c.*1222C>G (n.*1222C>G)
c.37C>G (p.Arg13Gly)
c.2047C>G (p.Arg683Gly)
c.2071C>G (p.Arg691Gly)
c.2068C>G (p.Arg690Gly)
c.1036C>G (p.Arg346Gly)
c.1288C>G (p.Arg430Gly)
n.2044C>G
n.2101C>G
n.2064C>G
15g.42730728G=CA2172870151CDAN1c.2044C= (p.Arg682=)
c.*1222C= (n.*1222C=)
c.37C= (p.Arg13=)
c.2047C= (p.Arg683=)
c.2071C= (p.Arg691=)
c.2068C= (p.Arg690=)
c.1036C= (p.Arg346=)
c.1288C= (p.Arg430=)
n.2044C=
n.2101C=
n.2064C=
15g.42730728G>TCA489895286CDAN1c.2044C>A (p.Arg682=)
c.*1222C>A (n.*1222C>A)
c.37C>A (p.Arg13=)
c.2047C>A (p.Arg683=)
c.2071C>A (p.Arg691=)
c.2068C>A (p.Arg690=)
c.1036C>A (p.Arg346=)
c.1288C>A (p.Arg430=)
n.2044C>A
n.2101C>A
n.2064C>A
15g.42730729C>ACA7515837CDAN1c.2043G>T (p.Gln681His)
c.*1221G>T (n.*1221G>T)
c.36G>T (p.Gln12His)
c.2046G>T (p.Gln682His)
c.2070G>T (p.Gln690His)
c.2067G>T (p.Gln689His)
c.1035G>T (p.Gln345His)
c.1287G>T (p.Gln429His)
n.2043G>T
n.2100G>T
n.2063G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42730729C=CA2172870152CDAN1c.2043G= (p.Gln681=)
c.*1221G= (n.*1221G=)
c.36G= (p.Gln12=)
c.2046G= (p.Gln682=)
c.2070G= (p.Gln690=)
c.2067G= (p.Gln689=)
c.1035G= (p.Gln345=)
c.1287G= (p.Gln429=)
n.2043G=
n.2100G=
n.2063G=
15g.42730729C>GCA392042664CDAN1c.2043G>C (p.Gln681His)
c.*1221G>C (n.*1221G>C)
c.36G>C (p.Gln12His)
c.2046G>C (p.Gln682His)
c.2070G>C (p.Gln690His)
c.2067G>C (p.Gln689His)
c.1035G>C (p.Gln345His)
c.1287G>C (p.Gln429His)
n.2043G>C
n.2100G>C
n.2063G>C
15g.42730729C>TCA489895289CDAN1c.2043G>A (p.Gln681=)
c.*1221G>A (n.*1221G>A)
c.36G>A (p.Gln12=)
c.2046G>A (p.Gln682=)
c.2070G>A (p.Gln690=)
c.2067G>A (p.Gln689=)
c.1035G>A (p.Gln345=)
c.1287G>A (p.Gln429=)
n.2043G>A
n.2100G>A
n.2063G>A
 gnomAD v4
15g.42730730T>ACA392042668CDAN1c.2042A>T (p.Gln681Leu)
c.*1220A>T (n.*1220A>T)
c.35A>T (p.Gln12Leu)
c.2045A>T (p.Gln682Leu)
c.2069A>T (p.Gln690Leu)
c.2066A>T (p.Gln689Leu)
c.1034A>T (p.Gln345Leu)
c.1286A>T (p.Gln429Leu)
n.2042A>T
n.2099A>T
n.2062A>T
15g.42730730T>CCA7515838CDAN1c.2042A>G (p.Gln681Arg)
c.*1220A>G (n.*1220A>G)
c.35A>G (p.Gln12Arg)
c.2045A>G (p.Gln682Arg)
c.2069A>G (p.Gln690Arg)
c.2066A>G (p.Gln689Arg)
c.1034A>G (p.Gln345Arg)
c.1286A>G (p.Gln429Arg)
n.2042A>G
n.2099A>G
n.2062A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730730T>GCA392042672CDAN1c.2042A>C (p.Gln681Pro)
c.*1220A>C (n.*1220A>C)
c.35A>C (p.Gln12Pro)
c.2045A>C (p.Gln682Pro)
c.2069A>C (p.Gln690Pro)
c.2066A>C (p.Gln689Pro)
c.1034A>C (p.Gln345Pro)
c.1286A>C (p.Gln429Pro)
n.2042A>C
n.2099A>C
n.2062A>C
15g.42730730T=CA2172870153CDAN1c.2042A= (p.Gln681=)
c.*1220A= (n.*1220A=)
c.35A= (p.Gln12=)
c.2045A= (p.Gln682=)
c.2069A= (p.Gln690=)
c.2066A= (p.Gln689=)
c.1034A= (p.Gln345=)
c.1286A= (p.Gln429=)
n.2042A=
n.2099A=
n.2062A=
15g.42730731G>ACA392042674CDAN1c.2041C>T (p.Gln681Ter)
c.*1219C>T (n.*1219C>T)
c.34C>T (p.Gln12Ter)
c.2044C>T (p.Gln682Ter)
c.2068C>T (p.Gln690Ter)
c.2065C>T (p.Gln689Ter)
c.1033C>T (p.Gln345Ter)
c.1285C>T (p.Gln429Ter)
n.2041C>T
n.2098C>T
n.2061C>T
15g.42730731G>CCA7515839CDAN1c.2041C>G (p.Gln681Glu)
c.*1219C>G (n.*1219C>G)
c.34C>G (p.Gln12Glu)
c.2044C>G (p.Gln682Glu)
c.2068C>G (p.Gln690Glu)
c.2065C>G (p.Gln689Glu)
c.1033C>G (p.Gln345Glu)
c.1285C>G (p.Gln429Glu)
n.2041C>G
n.2098C>G
n.2061C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42730731G=CA2172870154CDAN1c.2041C= (p.Gln681=)
c.*1219C= (n.*1219C=)
c.34C= (p.Gln12=)
c.2044C= (p.Gln682=)
c.2068C= (p.Gln690=)
c.2065C= (p.Gln689=)
c.1033C= (p.Gln345=)
c.1285C= (p.Gln429=)
n.2041C=
n.2098C=
n.2061C=
15g.42730731G>TCA392042678CDAN1c.2041C>A (p.Gln681Lys)
c.*1219C>A (n.*1219C>A)
c.34C>A (p.Gln12Lys)
c.2044C>A (p.Gln682Lys)
c.2068C>A (p.Gln690Lys)
c.2065C>A (p.Gln689Lys)
c.1033C>A (p.Gln345Lys)
c.1285C>A (p.Gln429Lys)
n.2041C>A
n.2098C>A
n.2061C>A
15g.42730732C>ACA489895291CDAN1c.2040G>T (p.Leu680=)
c.*1218G>T (n.*1218G>T)
c.33G>T (p.Leu11=)
c.2043G>T (p.Leu681=)
c.2067G>T (p.Leu689=)
c.2064G>T (p.Leu688=)
c.1032G>T (p.Leu344=)
c.1284G>T (p.Leu428=)
n.2040G>T
n.2097G>T
n.2060G>T
15g.42730732C>GCA489895292CDAN1c.2040G>C (p.Leu680=)
c.*1218G>C (n.*1218G>C)
c.33G>C (p.Leu11=)
c.2043G>C (p.Leu681=)
c.2067G>C (p.Leu689=)
c.2064G>C (p.Leu688=)
c.1032G>C (p.Leu344=)
c.1284G>C (p.Leu428=)
n.2040G>C
n.2097G>C
n.2060G>C
15g.42730732C>TCA489895294CDAN1c.2040G>A (p.Leu680=)
c.*1218G>A (n.*1218G>A)
c.33G>A (p.Leu11=)
c.2043G>A (p.Leu681=)
c.2067G>A (p.Leu689=)
c.2064G>A (p.Leu688=)
c.1032G>A (p.Leu344=)
c.1284G>A (p.Leu428=)
n.2040G>A
n.2097G>A
n.2060G>A
15g.42730733A>CCA392042681CDAN1c.2039T>G (p.Leu680Arg)
c.*1217T>G (n.*1217T>G)
c.32T>G (p.Leu11Arg)
c.2042T>G (p.Leu681Arg)
c.2066T>G (p.Leu689Arg)
c.2063T>G (p.Leu688Arg)
c.1031T>G (p.Leu344Arg)
c.1283T>G (p.Leu428Arg)
n.2039T>G
n.2096T>G
n.2059T>G
15g.42730733A>GCA392042683CDAN1c.2039T>C (p.Leu680Pro)
c.*1217T>C (n.*1217T>C)
c.32T>C (p.Leu11Pro)
c.2042T>C (p.Leu681Pro)
c.2066T>C (p.Leu689Pro)
c.2063T>C (p.Leu688Pro)
c.1031T>C (p.Leu344Pro)
c.1283T>C (p.Leu428Pro)
n.2039T>C
n.2096T>C
n.2059T>C
15g.42730733A>TCA392042685CDAN1c.2039T>A (p.Leu680Gln)
c.*1217T>A (n.*1217T>A)
c.32T>A (p.Leu11Gln)
c.2042T>A (p.Leu681Gln)
c.2066T>A (p.Leu689Gln)
c.2063T>A (p.Leu688Gln)
c.1031T>A (p.Leu344Gln)
c.1283T>A (p.Leu428Gln)
n.2039T>A
n.2096T>A
n.2059T>A
15g.42730733_42730734insACCCACACCCAAACACACCCAACCA2803923154CDAN1c.2038_2039insGTTGGGTGTGTTTGGGTGTGGGT (p.Leu680ArgfsTer?)
c.*1216_*1217insGTTGGGTGTGTTTGGGTGTGGGT (n.*1216_*1217insGTTGGGTGTGTTTGGGTGTGGGT)
c.31_32insGTTGGGTGTGTTTGGGTGTGGGT (p.Leu11ArgfsTer?)
c.2041_2042insGTTGGGTGTGTTTGGGTGTGGGT (p.Leu681ArgfsTer?)
c.2065_2066insGTTGGGTGTGTTTGGGTGTGGGT (p.Leu689ArgfsTer?)
c.2062_2063insGTTGGGTGTGTTTGGGTGTGGGT (p.Leu688ArgfsTer?)
c.1030_1031insGTTGGGTGTGTTTGGGTGTGGGT (p.Leu344ArgfsTer?)
c.1282_1283insGTTGGGTGTGTTTGGGTGTGGGT (p.Leu428ArgfsTer?)
n.2038_2039insGTTGGGTGTGTTTGGGTGTGGGT
n.2095_2096insGTTGGGTGTGTTTGGGTGTGGGT
n.2058_2059insGTTGGGTGTGTTTGGGTGTGGGT
15g.42730734G>ACA269904849CDAN1c.2038C>T (p.Leu680=)
c.*1216C>T (n.*1216C>T)
c.31C>T (p.Leu11=)
c.2041C>T (p.Leu681=)
c.2065C>T (p.Leu689=)
c.2062C>T (p.Leu688=)
c.1030C>T (p.Leu344=)
c.1282C>T (p.Leu428=)
n.2038C>T
n.2095C>T
n.2058C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.42730734G>CCA392042690CDAN1c.2038C>G (p.Leu680Val)
c.*1216C>G (n.*1216C>G)
c.31C>G (p.Leu11Val)
c.2041C>G (p.Leu681Val)
c.2065C>G (p.Leu689Val)
c.2062C>G (p.Leu688Val)
c.1030C>G (p.Leu344Val)
c.1282C>G (p.Leu428Val)
n.2038C>G
n.2095C>G
n.2058C>G
15g.42730734G=CA2172870155CDAN1c.2038C= (p.Leu680=)
c.*1216C= (n.*1216C=)
c.31C= (p.Leu11=)
c.2041C= (p.Leu681=)
c.2065C= (p.Leu689=)
c.2062C= (p.Leu688=)
c.1030C= (p.Leu344=)
c.1282C= (p.Leu428=)
n.2038C=
n.2095C=
n.2058C=
15g.42730734G>TCA392042688CDAN1c.2038C>A (p.Leu680Met)
c.*1216C>A (n.*1216C>A)
c.31C>A (p.Leu11Met)
c.2041C>A (p.Leu681Met)
c.2065C>A (p.Leu689Met)
c.2062C>A (p.Leu688Met)
c.1030C>A (p.Leu344Met)
c.1282C>A (p.Leu428Met)
n.2038C>A
n.2095C>A
n.2058C>A
15g.42730735C>ACA489895297CDAN1c.2037G>T (p.Leu679=)
c.*1215G>T (n.*1215G>T)
c.30G>T (p.Leu10=)
c.2040G>T (p.Leu680=)
c.2064G>T (p.Leu688=)
c.2061G>T (p.Leu687=)
c.1029G>T (p.Leu343=)
c.1281G>T (p.Leu427=)
n.2037G>T
n.2094G>T
n.2057G>T
15g.42730735C>GCA489895295CDAN1c.2037G>C (p.Leu679=)
c.*1215G>C (n.*1215G>C)
c.30G>C (p.Leu10=)
c.2040G>C (p.Leu680=)
c.2064G>C (p.Leu688=)
c.2061G>C (p.Leu687=)
c.1029G>C (p.Leu343=)
c.1281G>C (p.Leu427=)
n.2037G>C
n.2094G>C
n.2057G>C
15g.42730735C>TCA489895296CDAN1c.2037G>A (p.Leu679=)
c.*1215G>A (n.*1215G>A)
c.30G>A (p.Leu10=)
c.2040G>A (p.Leu680=)
c.2064G>A (p.Leu688=)
c.2061G>A (p.Leu687=)
c.1029G>A (p.Leu343=)
c.1281G>A (p.Leu427=)
n.2037G>A
n.2094G>A
n.2057G>A
 COSMIC
15g.42730736delCA2628073682CDAN1c.2036del (p.Leu679ArgfsTer?)
c.*1214del (n.*1214del)
c.29del (p.Leu10ArgfsTer?)
c.2039del (p.Leu680ArgfsTer?)
c.2063del (p.Leu688ArgfsTer?)
c.2060del (p.Leu687ArgfsTer?)
c.1028del (p.Leu343ArgfsTer?)
c.1280del (p.Leu427ArgfsTer?)
n.2036del
n.2093del
n.2056del
 gnomAD v4
15g.42730736A=CA2172870156CDAN1c.2036T= (p.Leu679=)
c.*1214T= (n.*1214T=)
c.29T= (p.Leu10=)
c.2039T= (p.Leu680=)
c.2063T= (p.Leu688=)
c.2060T= (p.Leu687=)
c.1028T= (p.Leu343=)
c.1280T= (p.Leu427=)
n.2036T=
n.2093T=
n.2056T=
15g.42730736A>CCA392042693CDAN1c.2036T>G (p.Leu679Arg)
c.*1214T>G (n.*1214T>G)
c.29T>G (p.Leu10Arg)
c.2039T>G (p.Leu680Arg)
c.2063T>G (p.Leu688Arg)
c.2060T>G (p.Leu687Arg)
c.1028T>G (p.Leu343Arg)
c.1280T>G (p.Leu427Arg)
n.2036T>G
n.2093T>G
n.2056T>G
15g.42730736A>GCA392042695CDAN1c.2036T>C (p.Leu679Pro)
c.*1214T>C (n.*1214T>C)
c.29T>C (p.Leu10Pro)
c.2039T>C (p.Leu680Pro)
c.2063T>C (p.Leu688Pro)
c.2060T>C (p.Leu687Pro)
c.1028T>C (p.Leu343Pro)
c.1280T>C (p.Leu427Pro)
n.2036T>C
n.2093T>C
n.2056T>C
 dbSNP gnomAD v2 gnomAD v4
15g.42730736A>TCA392042697CDAN1c.2036T>A (p.Leu679Gln)
c.*1214T>A (n.*1214T>A)
c.29T>A (p.Leu10Gln)
c.2039T>A (p.Leu680Gln)
c.2063T>A (p.Leu688Gln)
c.2060T>A (p.Leu687Gln)
c.1028T>A (p.Leu343Gln)
c.1280T>A (p.Leu427Gln)
n.2036T>A
n.2093T>A
n.2056T>A
15g.42730737G>ACA7515841CDAN1c.2035C>T (p.Leu679=)
c.*1213C>T (n.*1213C>T)
c.28C>T (p.Leu10=)
c.2038C>T (p.Leu680=)
c.2062C>T (p.Leu688=)
c.2059C>T (p.Leu687=)
c.1027C>T (p.Leu343=)
c.1279C>T (p.Leu427=)
n.2035C>T
n.2092C>T
n.2055C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730737G>CCA7515840CDAN1c.2035C>G (p.Leu679Val)
c.*1213C>G (n.*1213C>G)
c.28C>G (p.Leu10Val)
c.2038C>G (p.Leu680Val)
c.2062C>G (p.Leu688Val)
c.2059C>G (p.Leu687Val)
c.1027C>G (p.Leu343Val)
c.1279C>G (p.Leu427Val)
n.2035C>G
n.2092C>G
n.2055C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42730737G=CA2172870157CDAN1c.2035C= (p.Leu679=)
c.*1213C= (n.*1213C=)
c.28C= (p.Leu10=)
c.2038C= (p.Leu680=)
c.2062C= (p.Leu688=)
c.2059C= (p.Leu687=)
c.1027C= (p.Leu343=)
c.1279C= (p.Leu427=)
n.2035C=
n.2092C=
n.2055C=
15g.42730737G>TCA392042702CDAN1c.2035C>A (p.Leu679Met)
c.*1213C>A (n.*1213C>A)
c.28C>A (p.Leu10Met)
c.2038C>A (p.Leu680Met)
c.2062C>A (p.Leu688Met)
c.2059C>A (p.Leu687Met)
c.1027C>A (p.Leu343Met)
c.1279C>A (p.Leu427Met)
n.2035C>A
n.2092C>A
n.2055C>A
15g.42730738A>CCA489895300CDAN1c.2034T>G (p.Thr678=)
c.*1212T>G (n.*1212T>G)
c.27T>G (p.Thr9=)
c.2037T>G (p.Thr679=)
c.2061T>G (p.Thr687=)
c.2058T>G (p.Thr686=)
c.1026T>G (p.Thr342=)
c.1278T>G (p.Thr426=)
n.2034T>G
n.2091T>G
n.2054T>G
15g.42730738A>GCA489895304CDAN1c.2034T>C (p.Thr678=)
c.*1212T>C (n.*1212T>C)
c.27T>C (p.Thr9=)
c.2037T>C (p.Thr679=)
c.2061T>C (p.Thr687=)
c.2058T>C (p.Thr686=)
c.1026T>C (p.Thr342=)
c.1278T>C (p.Thr426=)
n.2034T>C
n.2091T>C
n.2054T>C
15g.42730738A>TCA489895305CDAN1c.2034T>A (p.Thr678=)
c.*1212T>A (n.*1212T>A)
c.27T>A (p.Thr9=)
c.2037T>A (p.Thr679=)
c.2061T>A (p.Thr687=)
c.2058T>A (p.Thr686=)
c.1026T>A (p.Thr342=)
c.1278T>A (p.Thr426=)
n.2034T>A
n.2091T>A
n.2054T>A
15g.42730739G>ACA392042704CDAN1c.2033C>T (p.Thr678Ile)
c.*1211C>T (n.*1211C>T)
c.26C>T (p.Thr9Ile)
c.2036C>T (p.Thr679Ile)
c.2060C>T (p.Thr687Ile)
c.2057C>T (p.Thr686Ile)
c.1025C>T (p.Thr342Ile)
c.1277C>T (p.Thr426Ile)
n.2033C>T
n.2090C>T
n.2053C>T
 dbSNP gnomAD v4
15g.42730739G>CCA269904862CDAN1c.2033C>G (p.Thr678Ser)
c.*1211C>G (n.*1211C>G)
c.26C>G (p.Thr9Ser)
c.2036C>G (p.Thr679Ser)
c.2060C>G (p.Thr687Ser)
c.2057C>G (p.Thr686Ser)
c.1025C>G (p.Thr342Ser)
c.1277C>G (p.Thr426Ser)
n.2033C>G
n.2090C>G
n.2053C>G
 dbSNP
15g.42730739G=CA2172870158CDAN1c.2033C= (p.Thr678=)
c.*1211C= (n.*1211C=)
c.26C= (p.Thr9=)
c.2036C= (p.Thr679=)
c.2060C= (p.Thr687=)
c.2057C= (p.Thr686=)
c.1025C= (p.Thr342=)
c.1277C= (p.Thr426=)
n.2033C=
n.2090C=
n.2053C=
15g.42730739G>TCA392042707CDAN1c.2033C>A (p.Thr678Asn)
c.*1211C>A (n.*1211C>A)
c.26C>A (p.Thr9Asn)
c.2036C>A (p.Thr679Asn)
c.2060C>A (p.Thr687Asn)
c.2057C>A (p.Thr686Asn)
c.1025C>A (p.Thr342Asn)
c.1277C>A (p.Thr426Asn)
n.2033C>A
n.2090C>A
n.2053C>A
 dbSNP gnomAD v2 gnomAD v4
15g.42730740T>ACA392042710CDAN1c.2032A>T (p.Thr678Ser)
c.*1210A>T (n.*1210A>T)
c.25A>T (p.Thr9Ser)
c.2035A>T (p.Thr679Ser)
c.2059A>T (p.Thr687Ser)
c.2056A>T (p.Thr686Ser)
c.1024A>T (p.Thr342Ser)
c.1276A>T (p.Thr426Ser)
n.2032A>T
n.2089A>T
n.2052A>T
15g.42730740T>CCA392042712CDAN1c.2032A>G (p.Thr678Ala)
c.*1210A>G (n.*1210A>G)
c.25A>G (p.Thr9Ala)
c.2035A>G (p.Thr679Ala)
c.2059A>G (p.Thr687Ala)
c.2056A>G (p.Thr686Ala)
c.1024A>G (p.Thr342Ala)
c.1276A>G (p.Thr426Ala)
n.2032A>G
n.2089A>G
n.2052A>G
 dbSNP gnomAD v2 gnomAD v4
15g.42730740T>GCA392042715CDAN1c.2032A>C (p.Thr678Pro)
c.*1210A>C (n.*1210A>C)
c.25A>C (p.Thr9Pro)
c.2035A>C (p.Thr679Pro)
c.2059A>C (p.Thr687Pro)
c.2056A>C (p.Thr686Pro)
c.1024A>C (p.Thr342Pro)
c.1276A>C (p.Thr426Pro)
n.2032A>C
n.2089A>C
n.2052A>C
15g.42730740T=CA2172870159CDAN1c.2032A= (p.Thr678=)
c.*1210A= (n.*1210A=)
c.25A= (p.Thr9=)
c.2035A= (p.Thr679=)
c.2059A= (p.Thr687=)
c.2056A= (p.Thr686=)
c.1024A= (p.Thr342=)
c.1276A= (p.Thr426=)
n.2032A=
n.2089A=
n.2052A=
15g.42730741C>ACA489895308CDAN1c.2031G>T (p.Arg677=)
c.*1209G>T (n.*1209G>T)
c.24G>T (p.Arg8=)
c.2034G>T (p.Arg678=)
c.2058G>T (p.Arg686=)
c.2055G>T (p.Arg685=)
c.1023G>T (p.Arg341=)
c.1275G>T (p.Arg425=)
n.2031G>T
n.2088G>T
n.2051G>T
15g.42730741C=CA2172870160CDAN1c.2031G= (p.Arg677=)
c.*1209G= (n.*1209G=)
c.24G= (p.Arg8=)
c.2034G= (p.Arg678=)
c.2058G= (p.Arg686=)
c.2055G= (p.Arg685=)
c.1023G= (p.Arg341=)
c.1275G= (p.Arg425=)
n.2031G=
n.2088G=
n.2051G=
15g.42730741C>GCA489895310CDAN1c.2031G>C (p.Arg677=)
c.*1209G>C (n.*1209G>C)
c.24G>C (p.Arg8=)
c.2034G>C (p.Arg678=)
c.2058G>C (p.Arg686=)
c.2055G>C (p.Arg685=)
c.1023G>C (p.Arg341=)
c.1275G>C (p.Arg425=)
n.2031G>C
n.2088G>C
n.2051G>C
15g.42730741C>TCA489895309CDAN1c.2031G>A (p.Arg677=)
c.*1209G>A (n.*1209G>A)
c.24G>A (p.Arg8=)
c.2034G>A (p.Arg678=)
c.2058G>A (p.Arg686=)
c.2055G>A (p.Arg685=)
c.1023G>A (p.Arg341=)
c.1275G>A (p.Arg425=)
n.2031G>A
n.2088G>A
n.2051G>A
 dbSNP gnomAD v2 gnomAD v4
15g.42730742C>ACA392042720CDAN1c.2030G>T (p.Arg677Leu)
c.*1208G>T (n.*1208G>T)
c.23G>T (p.Arg8Leu)
c.2033G>T (p.Arg678Leu)
c.2057G>T (p.Arg686Leu)
c.2054G>T (p.Arg685Leu)
c.1022G>T (p.Arg341Leu)
c.1274G>T (p.Arg425Leu)
n.2030G>T
n.2087G>T
n.2050G>T
 gnomAD v4
15g.42730742C=CA2172870161CDAN1c.2030G= (p.Arg677=)
c.*1208G= (n.*1208G=)
c.23G= (p.Arg8=)
c.2033G= (p.Arg678=)
c.2057G= (p.Arg686=)
c.2054G= (p.Arg685=)
c.1022G= (p.Arg341=)
c.1274G= (p.Arg425=)
n.2030G=
n.2087G=
n.2050G=
15g.42730742C>GCA392042722CDAN1c.2030G>C (p.Arg677Pro)
c.*1208G>C (n.*1208G>C)
c.23G>C (p.Arg8Pro)
c.2033G>C (p.Arg678Pro)
c.2057G>C (p.Arg686Pro)
c.2054G>C (p.Arg685Pro)
c.1022G>C (p.Arg341Pro)
c.1274G>C (p.Arg425Pro)
n.2030G>C
n.2087G>C
n.2050G>C
15g.42730742C>TCA7515842CDAN1c.2030G>A (p.Arg677Gln)
c.*1208G>A (n.*1208G>A)
c.23G>A (p.Arg8Gln)
c.2033G>A (p.Arg678Gln)
c.2057G>A (p.Arg686Gln)
c.2054G>A (p.Arg685Gln)
c.1022G>A (p.Arg341Gln)
c.1274G>A (p.Arg425Gln)
n.2030G>A
n.2087G>A
n.2050G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.42730743G>ACA7515843CDAN1c.2029C>T (p.Arg677Trp)
c.*1207C>T (n.*1207C>T)
c.22C>T (p.Arg8Trp)
c.2032C>T (p.Arg678Trp)
c.2056C>T (p.Arg686Trp)
c.2053C>T (p.Arg685Trp)
c.1021C>T (p.Arg341Trp)
c.1273C>T (p.Arg425Trp)
n.2029C>T
n.2086C>T
n.2049C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730743G>CCA392042726CDAN1c.2029C>G (p.Arg677Gly)
c.*1207C>G (n.*1207C>G)
c.22C>G (p.Arg8Gly)
c.2032C>G (p.Arg678Gly)
c.2056C>G (p.Arg686Gly)
c.2053C>G (p.Arg685Gly)
c.1021C>G (p.Arg341Gly)
c.1273C>G (p.Arg425Gly)
n.2029C>G
n.2086C>G
n.2049C>G
15g.42730743G=CA2172870162CDAN1c.2029C= (p.Arg677=)
c.*1207C= (n.*1207C=)
c.22C= (p.Arg8=)
c.2032C= (p.Arg678=)
c.2056C= (p.Arg686=)
c.2053C= (p.Arg685=)
c.1021C= (p.Arg341=)
c.1273C= (p.Arg425=)
n.2029C=
n.2086C=
n.2049C=
15g.42730743G>TCA489895311CDAN1c.2029C>A (p.Arg677=)
c.*1207C>A (n.*1207C>A)
c.22C>A (p.Arg8=)
c.2032C>A (p.Arg678=)
c.2056C>A (p.Arg686=)
c.2053C>A (p.Arg685=)
c.1021C>A (p.Arg341=)
c.1273C>A (p.Arg425=)
n.2029C>A
n.2086C>A
n.2049C>A
15g.42730744_42730752dupCA2628073694CDAN1c.2021_2029dup (p.Val676_Arg677insLeuAspVal)
c.*1199_*1207dup (n.*1199_*1207dup)
c.14_22dup (p.Val7_Arg8insLeuAspVal)
c.2024_2032dup (p.Val677_Arg678insLeuAspVal)
c.2048_2056dup (p.Val685_Arg686insLeuAspVal)
c.2045_2053dup (p.Val684_Arg685insLeuAspVal)
c.1013_1021dup (p.Val340_Arg341insLeuAspVal)
c.1265_1273dup (p.Val424_Arg425insLeuAspVal)
n.2021_2029dup
n.2078_2086dup
n.2041_2049dup
 gnomAD v4
15g.42730744C>ACA489895312CDAN1c.2028G>T (p.Val676=)
c.*1206G>T (n.*1206G>T)
c.21G>T (p.Val7=)
c.2031G>T (p.Val677=)
c.2055G>T (p.Val685=)
c.2052G>T (p.Val684=)
c.1020G>T (p.Val340=)
c.1272G>T (p.Val424=)
n.2028G>T
n.2085G>T
n.2048G>T
15g.42730744C>GCA489895313CDAN1c.2028G>C (p.Val676=)
c.*1206G>C (n.*1206G>C)
c.21G>C (p.Val7=)
c.2031G>C (p.Val677=)
c.2055G>C (p.Val685=)
c.2052G>C (p.Val684=)
c.1020G>C (p.Val340=)
c.1272G>C (p.Val424=)
n.2028G>C
n.2085G>C
n.2048G>C
15g.42730744C>TCA489895314CDAN1c.2028G>A (p.Val676=)
c.*1206G>A (n.*1206G>A)
c.21G>A (p.Val7=)
c.2031G>A (p.Val677=)
c.2055G>A (p.Val685=)
c.2052G>A (p.Val684=)
c.1020G>A (p.Val340=)
c.1272G>A (p.Val424=)
n.2028G>A
n.2085G>A
n.2048G>A
15g.42730745delCA645594158CDAN1c.2027del (p.Val676GlyfsTer?)
c.*1205del (n.*1205del)
c.20del (p.Val7GlyfsTer?)
c.2030del (p.Val677GlyfsTer?)
c.2054del (p.Val685GlyfsTer?)
c.2051del (p.Val684GlyfsTer?)
c.1019del (p.Val340GlyfsTer?)
c.1271del (p.Val424GlyfsTer?)
n.2027del
n.2084del
n.2047del
 COSMIC
15g.42730745A>CCA392042729CDAN1c.2027T>G (p.Val676Gly)
c.*1205T>G (n.*1205T>G)
c.20T>G (p.Val7Gly)
c.2030T>G (p.Val677Gly)
c.2054T>G (p.Val685Gly)
c.2051T>G (p.Val684Gly)
c.1019T>G (p.Val340Gly)
c.1271T>G (p.Val424Gly)
n.2027T>G
n.2084T>G
n.2047T>G
15g.42730745A>GCA392042732CDAN1c.2027T>C (p.Val676Ala)
c.*1205T>C (n.*1205T>C)
c.20T>C (p.Val7Ala)
c.2030T>C (p.Val677Ala)
c.2054T>C (p.Val685Ala)
c.2051T>C (p.Val684Ala)
c.1019T>C (p.Val340Ala)
c.1271T>C (p.Val424Ala)
n.2027T>C
n.2084T>C
n.2047T>C
15g.42730745A>TCA392042734CDAN1c.2027T>A (p.Val676Glu)
c.*1205T>A (n.*1205T>A)
c.20T>A (p.Val7Glu)
c.2030T>A (p.Val677Glu)
c.2054T>A (p.Val685Glu)
c.2051T>A (p.Val684Glu)
c.1019T>A (p.Val340Glu)
c.1271T>A (p.Val424Glu)
n.2027T>A
n.2084T>A
n.2047T>A
15g.42730746C>ACA392042741CDAN1c.2026G>T (p.Val676Leu)
c.*1204G>T (n.*1204G>T)
c.19G>T (p.Val7Leu)
c.2029G>T (p.Val677Leu)
c.2053G>T (p.Val685Leu)
c.2050G>T (p.Val684Leu)
c.1018G>T (p.Val340Leu)
c.1270G>T (p.Val424Leu)
n.2026G>T
n.2083G>T
n.2046G>T
15g.42730746C>GCA392042737CDAN1c.2026G>C (p.Val676Leu)
c.*1204G>C (n.*1204G>C)
c.19G>C (p.Val7Leu)
c.2029G>C (p.Val677Leu)
c.2053G>C (p.Val685Leu)
c.2050G>C (p.Val684Leu)
c.1018G>C (p.Val340Leu)
c.1270G>C (p.Val424Leu)
n.2026G>C
n.2083G>C
n.2046G>C
15g.42730746C>TCA392042738CDAN1c.2026G>A (p.Val676Met)
c.*1204G>A (n.*1204G>A)
c.19G>A (p.Val7Met)
c.2029G>A (p.Val677Met)
c.2053G>A (p.Val685Met)
c.2050G>A (p.Val684Met)
c.1018G>A (p.Val340Met)
c.1270G>A (p.Val424Met)
n.2026G>A
n.2083G>A
n.2046G>A
15g.42730747A>CCA392042744CDAN1c.2025T>G (p.Asp675Glu)
c.*1203T>G (n.*1203T>G)
c.18T>G (p.Asp6Glu)
c.2028T>G (p.Asp676Glu)
c.2052T>G (p.Asp684Glu)
c.2049T>G (p.Asp683Glu)
c.1017T>G (p.Asp339Glu)
c.1269T>G (p.Asp423Glu)
n.2025T>G
n.2082T>G
n.2045T>G
15g.42730747A>GCA489895318CDAN1c.2025T>C (p.Asp675=)
c.*1203T>C (n.*1203T>C)
c.18T>C (p.Asp6=)
c.2028T>C (p.Asp676=)
c.2052T>C (p.Asp684=)
c.2049T>C (p.Asp683=)
c.1017T>C (p.Asp339=)
c.1269T>C (p.Asp423=)
n.2025T>C
n.2082T>C
n.2045T>C
15g.42730747A>TCA392042746CDAN1c.2025T>A (p.Asp675Glu)
c.*1203T>A (n.*1203T>A)
c.18T>A (p.Asp6Glu)
c.2028T>A (p.Asp676Glu)
c.2052T>A (p.Asp684Glu)
c.2049T>A (p.Asp683Glu)
c.1017T>A (p.Asp339Glu)
c.1269T>A (p.Asp423Glu)
n.2025T>A
n.2082T>A
n.2045T>A
15g.42730748T>ACA392042748CDAN1c.2024A>T (p.Asp675Val)
c.*1202A>T (n.*1202A>T)
c.17A>T (p.Asp6Val)
c.2027A>T (p.Asp676Val)
c.2051A>T (p.Asp684Val)
c.2048A>T (p.Asp683Val)
c.1016A>T (p.Asp339Val)
c.1268A>T (p.Asp423Val)
n.2024A>T
n.2081A>T
n.2044A>T
15g.42730748T>CCA392042751CDAN1c.2024A>G (p.Asp675Gly)
c.*1202A>G (n.*1202A>G)
c.17A>G (p.Asp6Gly)
c.2027A>G (p.Asp676Gly)
c.2051A>G (p.Asp684Gly)
c.2048A>G (p.Asp683Gly)
c.1016A>G (p.Asp339Gly)
c.1268A>G (p.Asp423Gly)
n.2024A>G
n.2081A>G
n.2044A>G
15g.42730748T>GCA392042753CDAN1c.2024A>C (p.Asp675Ala)
c.*1202A>C (n.*1202A>C)
c.17A>C (p.Asp6Ala)
c.2027A>C (p.Asp676Ala)
c.2051A>C (p.Asp684Ala)
c.2048A>C (p.Asp683Ala)
c.1016A>C (p.Asp339Ala)
c.1268A>C (p.Asp423Ala)
n.2024A>C
n.2081A>C
n.2044A>C
15g.42730749C>ACA392042756CDAN1c.2023G>T (p.Asp675Tyr)
c.*1201G>T (n.*1201G>T)
c.16G>T (p.Asp6Tyr)
c.2026G>T (p.Asp676Tyr)
c.2050G>T (p.Asp684Tyr)
c.2047G>T (p.Asp683Tyr)
c.1015G>T (p.Asp339Tyr)
c.1267G>T (p.Asp423Tyr)
n.2023G>T
n.2080G>T
n.2043G>T
15g.42730749C>GCA392042761CDAN1c.2023G>C (p.Asp675His)
c.*1201G>C (n.*1201G>C)
c.16G>C (p.Asp6His)
c.2026G>C (p.Asp676His)
c.2050G>C (p.Asp684His)
c.2047G>C (p.Asp683His)
c.1015G>C (p.Asp339His)
c.1267G>C (p.Asp423His)
n.2023G>C
n.2080G>C
n.2043G>C
15g.42730749C>TCA392042758CDAN1c.2023G>A (p.Asp675Asn)
c.*1201G>A (n.*1201G>A)
c.16G>A (p.Asp6Asn)
c.2026G>A (p.Asp676Asn)
c.2050G>A (p.Asp684Asn)
c.2047G>A (p.Asp683Asn)
c.1015G>A (p.Asp339Asn)
c.1267G>A (p.Asp423Asn)
n.2023G>A
n.2080G>A
n.2043G>A
 gnomAD v4
15g.42730750C>ACA489895322CDAN1c.2022G>T (p.Leu674=)
c.*1200G>T (n.*1200G>T)
c.15G>T (p.Leu5=)
c.2025G>T (p.Leu675=)
c.2049G>T (p.Leu683=)
c.2046G>T (p.Leu682=)
c.1014G>T (p.Leu338=)
c.1266G>T (p.Leu422=)
n.2022G>T
n.2079G>T
n.2042G>T
15g.42730750C=CA2172870163CDAN1c.2022G= (p.Leu674=)
c.*1200G= (n.*1200G=)
c.15G= (p.Leu5=)
c.2025G= (p.Leu675=)
c.2049G= (p.Leu683=)
c.2046G= (p.Leu682=)
c.1014G= (p.Leu338=)
c.1266G= (p.Leu422=)
n.2022G=
n.2079G=
n.2042G=
15g.42730750C>GCA489895324CDAN1c.2022G>C (p.Leu674=)
c.*1200G>C (n.*1200G>C)
c.15G>C (p.Leu5=)
c.2025G>C (p.Leu675=)
c.2049G>C (p.Leu683=)
c.2046G>C (p.Leu682=)
c.1014G>C (p.Leu338=)
c.1266G>C (p.Leu422=)
n.2022G>C
n.2079G>C
n.2042G>C
15g.42730750C>TCA489895325CDAN1c.2022G>A (p.Leu674=)
c.*1200G>A (n.*1200G>A)
c.15G>A (p.Leu5=)
c.2025G>A (p.Leu675=)
c.2049G>A (p.Leu683=)
c.2046G>A (p.Leu682=)
c.1014G>A (p.Leu338=)
c.1266G>A (p.Leu422=)
n.2022G>A
n.2079G>A
n.2042G>A
 dbSNP
15g.42730751A>CCA392042764CDAN1c.2021T>G (p.Leu674Arg)
c.*1199T>G (n.*1199T>G)
c.14T>G (p.Leu5Arg)
c.2024T>G (p.Leu675Arg)
c.2048T>G (p.Leu683Arg)
c.2045T>G (p.Leu682Arg)
c.1013T>G (p.Leu338Arg)
c.1265T>G (p.Leu422Arg)
n.2021T>G
n.2078T>G
n.2041T>G
15g.42730751A>GCA392042766CDAN1c.2021T>C (p.Leu674Pro)
c.*1199T>C (n.*1199T>C)
c.14T>C (p.Leu5Pro)
c.2024T>C (p.Leu675Pro)
c.2048T>C (p.Leu683Pro)
c.2045T>C (p.Leu682Pro)
c.1013T>C (p.Leu338Pro)
c.1265T>C (p.Leu422Pro)
n.2021T>C
n.2078T>C
n.2041T>C
15g.42730751A>TCA392042768CDAN1c.2021T>A (p.Leu674Gln)
c.*1199T>A (n.*1199T>A)
c.14T>A (p.Leu5Gln)
c.2024T>A (p.Leu675Gln)
c.2048T>A (p.Leu683Gln)
c.2045T>A (p.Leu682Gln)
c.1013T>A (p.Leu338Gln)
c.1265T>A (p.Leu422Gln)
n.2021T>A
n.2078T>A
n.2041T>A
15g.42730751_42730760delinsAGGACCGGAGCA2172870164CDAN1c.2012_2021delinsCTCCGGTCCT (p.Pro671=)
c.*1190_*1199delinsCTCCGGTCCT (n.*1190_*1199delinsCTCCGGTCCT)
c.5_14delinsCTCCGGTCCT (p.Pro2=)
c.2015_2024delinsCTCCGGTCCT (p.Pro672=)
c.2039_2048delinsCTCCGGTCCT (p.Pro680=)
c.2036_2045delinsCTCCGGTCCT (p.Pro679=)
c.1004_1013delinsCTCCGGTCCT (p.Pro335=)
c.1256_1265delinsCTCCGGTCCT (p.Pro419=)
n.2012_2021delinsCTCCGGTCCT
n.2069_2078delinsCTCCGGTCCT
n.2032_2041delinsCTCCGGTCCT
15g.42730752G>ACA489895327CDAN1c.2020C>T (p.Leu674=)
c.*1198C>T (n.*1198C>T)
c.13C>T (p.Leu5=)
c.2023C>T (p.Leu675=)
c.2047C>T (p.Leu683=)
c.2044C>T (p.Leu682=)
c.1012C>T (p.Leu338=)
c.1264C>T (p.Leu422=)
n.2020C>T
n.2077C>T
n.2040C>T
 gnomAD v4
15g.42730752G>CCA392042771CDAN1c.2020C>G (p.Leu674Val)
c.*1198C>G (n.*1198C>G)
c.13C>G (p.Leu5Val)
c.2023C>G (p.Leu675Val)
c.2047C>G (p.Leu683Val)
c.2044C>G (p.Leu682Val)
c.1012C>G (p.Leu338Val)
c.1264C>G (p.Leu422Val)
n.2020C>G
n.2077C>G
n.2040C>G
15g.42730752G>TCA392042773CDAN1c.2020C>A (p.Leu674Met)
c.*1198C>A (n.*1198C>A)
c.13C>A (p.Leu5Met)
c.2023C>A (p.Leu675Met)
c.2047C>A (p.Leu683Met)
c.2044C>A (p.Leu682Met)
c.1012C>A (p.Leu338Met)
c.1264C>A (p.Leu422Met)
n.2020C>A
n.2077C>A
n.2040C>A
15g.42730757_42730765delCA2172870165CDAN1c.2012_2020del
c.*1190_*1198del
c.2015_2023del
c.2039_2047del
c.2036_2044del
c.1004_1012del
c.1256_1264del
n.2012_2020del
n.2069_2077del
n.2032_2040del
 dbSNP
15g.42730753G>ACA7515844CDAN1c.2019C>T (p.Val673=)
c.*1197C>T (n.*1197C>T)
c.12C>T (p.Val4=)
c.2022C>T (p.Val674=)
c.2046C>T (p.Val682=)
c.2043C>T (p.Val681=)
c.1011C>T (p.Val337=)
c.1263C>T (p.Val421=)
n.2019C>T
n.2076C>T
n.2039C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.42730753G>CCA489895330CDAN1c.2019C>G (p.Val673=)
c.*1197C>G (n.*1197C>G)
c.12C>G (p.Val4=)
c.2022C>G (p.Val674=)
c.2046C>G (p.Val682=)
c.2043C>G (p.Val681=)
c.1011C>G (p.Val337=)
c.1263C>G (p.Val421=)
n.2019C>G
n.2076C>G
n.2039C>G
 gnomAD v4
15g.42730753G=CA2172870166CDAN1c.2019C= (p.Val673=)
c.*1197C= (n.*1197C=)
c.12C= (p.Val4=)
c.2022C= (p.Val674=)
c.2046C= (p.Val682=)
c.2043C= (p.Val681=)
c.1011C= (p.Val337=)
c.1263C= (p.Val421=)
n.2019C=
n.2076C=
n.2039C=
15g.42730753G>TCA489895331CDAN1c.2019C>A (p.Val673=)
c.*1197C>A (n.*1197C>A)
c.12C>A (p.Val4=)
c.2022C>A (p.Val674=)
c.2046C>A (p.Val682=)
c.2043C>A (p.Val681=)
c.1011C>A (p.Val337=)
c.1263C>A (p.Val421=)
n.2019C>A
n.2076C>A
n.2039C>A
15g.42730754A>CCA392042778CDAN1c.2018T>G (p.Val673Gly)
c.*1196T>G (n.*1196T>G)
c.11T>G (p.Val4Gly)
c.2021T>G (p.Val674Gly)
c.2045T>G (p.Val682Gly)
c.2042T>G (p.Val681Gly)
c.1010T>G (p.Val337Gly)
c.1262T>G (p.Val421Gly)
n.2018T>G
n.2075T>G
n.2038T>G
15g.42730754A>GCA392042780CDAN1c.2018T>C (p.Val673Ala)
c.*1196T>C (n.*1196T>C)
c.11T>C (p.Val4Ala)
c.2021T>C (p.Val674Ala)
c.2045T>C (p.Val682Ala)
c.2042T>C (p.Val681Ala)
c.1010T>C (p.Val337Ala)
c.1262T>C (p.Val421Ala)
n.2018T>C
n.2075T>C
n.2038T>C
15g.42730754A>TCA392042781CDAN1c.2018T>A (p.Val673Asp)
c.*1196T>A (n.*1196T>A)
c.11T>A (p.Val4Asp)
c.2021T>A (p.Val674Asp)
c.2045T>A (p.Val682Asp)
c.2042T>A (p.Val681Asp)
c.1010T>A (p.Val337Asp)
c.1262T>A (p.Val421Asp)
n.2018T>A
n.2075T>A
n.2038T>A
15g.42730755C>ACA269904894CDAN1c.2017G>T (p.Val673Phe)
c.*1195G>T (n.*1195G>T)
c.10G>T (p.Val4Phe)
c.2020G>T (p.Val674Phe)
c.2044G>T (p.Val682Phe)
c.2041G>T (p.Val681Phe)
c.1009G>T (p.Val337Phe)
c.1261G>T (p.Val421Phe)
n.2017G>T
n.2074G>T
n.2037G>T
 dbSNP gnomAD v4 COSMIC
15g.42730755C=CA2172870167CDAN1c.2017G= (p.Val673=)
c.*1195G= (n.*1195G=)
c.10G= (p.Val4=)
c.2020G= (p.Val674=)
c.2044G= (p.Val682=)
c.2041G= (p.Val681=)
c.1009G= (p.Val337=)
c.1261G= (p.Val421=)
n.2017G=
n.2074G=
n.2037G=
15g.42730755C>GCA392042785CDAN1c.2017G>C (p.Val673Leu)
c.*1195G>C (n.*1195G>C)
c.10G>C (p.Val4Leu)
c.2020G>C (p.Val674Leu)
c.2044G>C (p.Val682Leu)
c.2041G>C (p.Val681Leu)
c.1009G>C (p.Val337Leu)
c.1261G>C (p.Val421Leu)
n.2017G>C
n.2074G>C
n.2037G>C
15g.42730755C>TCA392042788CDAN1c.2017G>A (p.Val673Ile)
c.*1195G>A (n.*1195G>A)
c.10G>A (p.Val4Ile)
c.2020G>A (p.Val674Ile)
c.2044G>A (p.Val682Ile)
c.2041G>A (p.Val681Ile)
c.1009G>A (p.Val337Ile)
c.1261G>A (p.Val421Ile)
n.2017G>A
n.2074G>A
n.2037G>A
 gnomAD v4
15g.42730756C>ACA489895333CDAN1c.2016G>T (p.Pro672=)
c.*1194G>T (n.*1194G>T)
c.9G>T (p.Pro3=)
c.2019G>T (p.Pro673=)
c.2043G>T (p.Pro681=)
c.2040G>T (p.Pro680=)
c.1008G>T (p.Pro336=)
c.1260G>T (p.Pro420=)
n.2016G>T
n.2073G>T
n.2036G>T
15g.42730756C=CA2172870168CDAN1c.2016G= (p.Pro672=)
c.*1194G= (n.*1194G=)
c.9G= (p.Pro3=)
c.2019G= (p.Pro673=)
c.2043G= (p.Pro681=)
c.2040G= (p.Pro680=)
c.1008G= (p.Pro336=)
c.1260G= (p.Pro420=)
n.2016G=
n.2073G=
n.2036G=
15g.42730756C>GCA7515846CDAN1c.2016G>C (p.Pro672=)
c.*1194G>C (n.*1194G>C)
c.9G>C (p.Pro3=)
c.2019G>C (p.Pro673=)
c.2043G>C (p.Pro681=)
c.2040G>C (p.Pro680=)
c.1008G>C (p.Pro336=)
c.1260G>C (p.Pro420=)
n.2016G>C
n.2073G>C
n.2036G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42730756C>TCA7515845CDAN1c.2016G>A (p.Pro672=)
c.*1194G>A (n.*1194G>A)
c.9G>A (p.Pro3=)
c.2019G>A (p.Pro673=)
c.2043G>A (p.Pro681=)
c.2040G>A (p.Pro680=)
c.1008G>A (p.Pro336=)
c.1260G>A (p.Pro420=)
n.2016G>A
n.2073G>A
n.2036G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730757G>ACA342447CDAN1c.2015C>T (p.Pro672Leu)
c.*1193C>T (n.*1193C>T)
c.8C>T (p.Pro3Leu)
c.2018C>T (p.Pro673Leu)
c.2042C>T (p.Pro681Leu)
c.2039C>T (p.Pro680Leu)
c.1007C>T (p.Pro336Leu)
c.1259C>T (p.Pro420Leu)
n.2015C>T
n.2072C>T
n.2035C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730757G>CCA392042797CDAN1c.2015C>G (p.Pro672Arg)
c.*1193C>G (n.*1193C>G)
c.8C>G (p.Pro3Arg)
c.2018C>G (p.Pro673Arg)
c.2042C>G (p.Pro681Arg)
c.2039C>G (p.Pro680Arg)
c.1007C>G (p.Pro336Arg)
c.1259C>G (p.Pro420Arg)
n.2015C>G
n.2072C>G
n.2035C>G
15g.42730757G=CA2172870169CDAN1c.2015C= (p.Pro672=)
c.*1193C= (n.*1193C=)
c.8C= (p.Pro3=)
c.2018C= (p.Pro673=)
c.2042C= (p.Pro681=)
c.2039C= (p.Pro680=)
c.1007C= (p.Pro336=)
c.1259C= (p.Pro420=)
n.2015C=
n.2072C=
n.2035C=
15g.42730757G>TCA392042795CDAN1c.2015C>A (p.Pro672Gln)
c.*1193C>A (n.*1193C>A)
c.8C>A (p.Pro3Gln)
c.2018C>A (p.Pro673Gln)
c.2042C>A (p.Pro681Gln)
c.2039C>A (p.Pro680Gln)
c.1007C>A (p.Pro336Gln)
c.1259C>A (p.Pro420Gln)
n.2015C>A
n.2072C>A
n.2035C>A
 gnomAD v4
15g.42730760_42730805delCA2628073700CDAN1c.2008-38_2015del
c.*1186-38_*1193del
c.2011-38_2018del
c.2035-38_2042del
c.2032-38_2039del
c.1000-38_1007del
c.1252-38_1259del
n.2008-38_2015del
n.2065-38_2072del
n.2028-38_2035del
 gnomAD v4
15g.42730758G>ACA392042800CDAN1c.2014C>T (p.Pro672Ser)
c.*1192C>T (n.*1192C>T)
c.7C>T (p.Pro3Ser)
c.2017C>T (p.Pro673Ser)
c.2041C>T (p.Pro681Ser)
c.2038C>T (p.Pro680Ser)
c.1006C>T (p.Pro336Ser)
c.1258C>T (p.Pro420Ser)
n.2014C>T
n.2071C>T
n.2034C>T
 dbSNP gnomAD v2 gnomAD v4
15g.42730758G>CCA392042803CDAN1c.2014C>G (p.Pro672Ala)
c.*1192C>G (n.*1192C>G)
c.7C>G (p.Pro3Ala)
c.2017C>G (p.Pro673Ala)
c.2041C>G (p.Pro681Ala)
c.2038C>G (p.Pro680Ala)
c.1006C>G (p.Pro336Ala)
c.1258C>G (p.Pro420Ala)
n.2014C>G
n.2071C>G
n.2034C>G
15g.42730758G=CA2172870170CDAN1c.2014C= (p.Pro672=)
c.*1192C= (n.*1192C=)
c.7C= (p.Pro3=)
c.2017C= (p.Pro673=)
c.2041C= (p.Pro681=)
c.2038C= (p.Pro680=)
c.1006C= (p.Pro336=)
c.1258C= (p.Pro420=)
n.2014C=
n.2071C=
n.2034C=
15g.42730758G>TCA392042805CDAN1c.2014C>A (p.Pro672Thr)
c.*1192C>A (n.*1192C>A)
c.7C>A (p.Pro3Thr)
c.2017C>A (p.Pro673Thr)
c.2041C>A (p.Pro681Thr)
c.2038C>A (p.Pro680Thr)
c.1006C>A (p.Pro336Thr)
c.1258C>A (p.Pro420Thr)
n.2014C>A
n.2071C>A
n.2034C>A
15g.42730759A>CCA489895338CDAN1c.2013T>G (p.Pro671=)
c.*1191T>G (n.*1191T>G)
c.6T>G (p.Pro2=)
c.2016T>G (p.Pro672=)
c.2040T>G (p.Pro680=)
c.2037T>G (p.Pro679=)
c.1005T>G (p.Pro335=)
c.1257T>G (p.Pro419=)
n.2013T>G
n.2070T>G
n.2033T>G
15g.42730759A>GCA489895340CDAN1c.2013T>C (p.Pro671=)
c.*1191T>C (n.*1191T>C)
c.6T>C (p.Pro2=)
c.2016T>C (p.Pro672=)
c.2040T>C (p.Pro680=)
c.2037T>C (p.Pro679=)
c.1005T>C (p.Pro335=)
c.1257T>C (p.Pro419=)
n.2013T>C
n.2070T>C
n.2033T>C
15g.42730759A>TCA489895342CDAN1c.2013T>A (p.Pro671=)
c.*1191T>A (n.*1191T>A)
c.6T>A (p.Pro2=)
c.2016T>A (p.Pro672=)
c.2040T>A (p.Pro680=)
c.2037T>A (p.Pro679=)
c.1005T>A (p.Pro335=)
c.1257T>A (p.Pro419=)
n.2013T>A
n.2070T>A
n.2033T>A
15g.42730760G>ACA269904911CDAN1c.2012C>T (p.Pro671Leu)
c.*1190C>T (n.*1190C>T)
c.5C>T (p.Pro2Leu)
c.2015C>T (p.Pro672Leu)
c.2039C>T (p.Pro680Leu)
c.2036C>T (p.Pro679Leu)
c.1004C>T (p.Pro335Leu)
c.1256C>T (p.Pro419Leu)
n.2012C>T
n.2069C>T
n.2032C>T
 dbSNP
15g.42730760G>CCA392042808CDAN1c.2012C>G (p.Pro671Arg)
c.*1190C>G (n.*1190C>G)
c.5C>G (p.Pro2Arg)
c.2015C>G (p.Pro672Arg)
c.2039C>G (p.Pro680Arg)
c.2036C>G (p.Pro679Arg)
c.1004C>G (p.Pro335Arg)
c.1256C>G (p.Pro419Arg)
n.2012C>G
n.2069C>G
n.2032C>G
15g.42730760G=CA2172870171CDAN1c.2012C= (p.Pro671=)
c.*1190C= (n.*1190C=)
c.5C= (p.Pro2=)
c.2015C= (p.Pro672=)
c.2039C= (p.Pro680=)
c.2036C= (p.Pro679=)
c.1004C= (p.Pro335=)
c.1256C= (p.Pro419=)
n.2012C=
n.2069C=
n.2032C=
15g.42730760G>TCA392042810CDAN1c.2012C>A (p.Pro671His)
c.*1190C>A (n.*1190C>A)
c.5C>A (p.Pro2His)
c.2015C>A (p.Pro672His)
c.2039C>A (p.Pro680His)
c.2036C>A (p.Pro679His)
c.1004C>A (p.Pro335His)
c.1256C>A (p.Pro419His)
n.2012C>A
n.2069C>A
n.2032C>A
15g.42730761G>ACA392042812CDAN1c.2011C>T (p.Pro671Ser)
c.*1189C>T (n.*1189C>T)
c.4C>T (p.Pro2Ser)
c.2014C>T (p.Pro672Ser)
c.2038C>T (p.Pro680Ser)
c.2035C>T (p.Pro679Ser)
c.1003C>T (p.Pro335Ser)
c.1255C>T (p.Pro419Ser)
n.2011C>T
n.2068C>T
n.2031C>T
 gnomAD v4
15g.42730761G>CCA392042815CDAN1c.2011C>G (p.Pro671Ala)
c.*1189C>G (n.*1189C>G)
c.4C>G (p.Pro2Ala)
c.2014C>G (p.Pro672Ala)
c.2038C>G (p.Pro680Ala)
c.2035C>G (p.Pro679Ala)
c.1003C>G (p.Pro335Ala)
c.1255C>G (p.Pro419Ala)
n.2011C>G
n.2068C>G
n.2031C>G
15g.42730761G>TCA392042817CDAN1c.2011C>A (p.Pro671Thr)
c.*1189C>A (n.*1189C>A)
c.4C>A (p.Pro2Thr)
c.2014C>A (p.Pro672Thr)
c.2038C>A (p.Pro680Thr)
c.2035C>A (p.Pro679Thr)
c.1003C>A (p.Pro335Thr)
c.1255C>A (p.Pro419Thr)
n.2011C>A
n.2068C>A
n.2031C>A
15g.42730762G>ACA490001839CDAN1c.2010C>T (p.Val670=)
c.*1188C>T (n.*1188C>T)
c.3C>T (p.Val1=)
c.2013C>T (p.Val671=)
c.2037C>T (p.Val679=)
c.2034C>T (p.Val678=)
c.1002C>T (p.Val334=)
c.1254C>T (p.Val418=)
n.2010C>T
n.2067C>T
n.2030C>T
 gnomAD v4
15g.42730762G>CCA490001838CDAN1c.2010C>G (p.Val670=)
c.*1188C>G (n.*1188C>G)
c.3C>G (p.Val1=)
c.2013C>G (p.Val671=)
c.2037C>G (p.Val679=)
c.2034C>G (p.Val678=)
c.1002C>G (p.Val334=)
c.1254C>G (p.Val418=)
n.2010C>G
n.2067C>G
n.2030C>G
 dbSNP gnomAD v4
15g.42730762G=CA2172870172CDAN1c.2010C= (p.Val670=)
c.*1188C= (n.*1188C=)
c.3C= (p.Val1=)
c.2013C= (p.Val671=)
c.2037C= (p.Val679=)
c.2034C= (p.Val678=)
c.1002C= (p.Val334=)
c.1254C= (p.Val418=)
n.2010C=
n.2067C=
n.2030C=
15g.42730762G>TCA490001837CDAN1c.2010C>A (p.Val670=)
c.*1188C>A (n.*1188C>A)
c.3C>A (p.Val1=)
c.2013C>A (p.Val671=)
c.2037C>A (p.Val679=)
c.2034C>A (p.Val678=)
c.1002C>A (p.Val334=)
c.1254C>A (p.Val418=)
n.2010C>A
n.2067C>A
n.2030C>A
15g.42730763A=CA2172870173CDAN1c.2009T= (p.Val670=)
c.*1187T= (n.*1187T=)
c.2T= (p.Val1=)
c.2012T= (p.Val671=)
c.2036T= (p.Val679=)
c.2033T= (p.Val678=)
c.1001T= (p.Val334=)
c.1253T= (p.Val418=)
n.2009T=
n.2066T=
n.2029T=
15g.42730763A>CCA392042820CDAN1c.2009T>G (p.Val670Gly)
c.*1187T>G (n.*1187T>G)
c.2T>G (p.Val1Gly)
c.2012T>G (p.Val671Gly)
c.2036T>G (p.Val679Gly)
c.2033T>G (p.Val678Gly)
c.1001T>G (p.Val334Gly)
c.1253T>G (p.Val418Gly)
n.2009T>G
n.2066T>G
n.2029T>G
15g.42730763A>GCA392042822CDAN1c.2009T>C (p.Val670Ala)
c.*1187T>C (n.*1187T>C)
c.2T>C (p.Val1Ala)
c.2012T>C (p.Val671Ala)
c.2036T>C (p.Val679Ala)
c.2033T>C (p.Val678Ala)
c.1001T>C (p.Val334Ala)
c.1253T>C (p.Val418Ala)
n.2009T>C
n.2066T>C
n.2029T>C
 dbSNP
15g.42730763A>TCA392042824CDAN1c.2009T>A (p.Val670Asp)
c.*1187T>A (n.*1187T>A)
c.2T>A (p.Val1Asp)
c.2012T>A (p.Val671Asp)
c.2036T>A (p.Val679Asp)
c.2033T>A (p.Val678Asp)
c.1001T>A (p.Val334Asp)
c.1253T>A (p.Val418Asp)
n.2009T>A
n.2066T>A
n.2029T>A
 ClinVar gnomAD v4

Number of alleles fetched