Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.68823536_68823538delinsACC | CA16620255 | CDH1 | c.2074_2076delinsACC (p.Ala692Thr) c.1891_1893delinsACC (p.Ala631Thr) n.292_294delinsACC n.2145_2147delinsACC c.*740_*742delinsACC (n.*740_*742delinsACC) c.*314_*316delinsACC (n.*314_*316delinsACC) c.2137_2139delinsACC (p.Ala713Thr) c.1830+1417_1830+1419delinsACC (n.1830+1417_1830+1419delinsACC) c.1865+1382_1865+1384delinsACC (n.1865+1382_1865+1384delinsACC) c.1339_1341delinsACC (p.Ala447Thr) c.526_528delinsACC (p.Ala176Thr) c.109_111delinsACC (p.Ala37Thr) | ClinVar dbSNP |
16 | g.68823536_68823538delinsGCT | CA2229983149 | CDH1 | c.2074_2076delinsGCT (p.Ala692=) c.1891_1893delinsGCT (p.Ala631=) n.292_294delinsGCT n.2145_2147delinsGCT c.*740_*742delinsGCT (n.*740_*742delinsGCT) c.*314_*316delinsGCT (n.*314_*316delinsGCT) c.2137_2139delinsGCT (p.Ala713=) c.1830+1417_1830+1419delinsGCT (n.1830+1417_1830+1419delinsGCT) c.1865+1382_1865+1384delinsGCT (n.1865+1382_1865+1384delinsGCT) c.1339_1341delinsGCT (p.Ala447=) c.526_528delinsGCT (p.Ala176=) c.109_111delinsGCT (p.Ala37=) | |
16 | g.68823537_68823539delinsCTG | CA2229983156 | CDH1 | c.2075_2077delinsCTG (p.Ala692=) c.1892_1894delinsCTG (p.Ala631=) n.293_295delinsCTG n.2146_2148delinsCTG c.*741_*743delinsCTG (n.*741_*743delinsCTG) c.*315_*317delinsCTG (n.*315_*317delinsCTG) c.2138_2140delinsCTG (p.Ala713=) c.1830+1418_1830+1420delinsCTG (n.1830+1418_1830+1420delinsCTG) c.1865+1383_1865+1385delinsCTG (n.1865+1383_1865+1385delinsCTG) c.1340_1342delinsCTG (p.Ala447=) c.527_529delinsCTG (p.Ala176=) c.110_112delinsCTG (p.Ala37=) | |
16 | g.68823538T>A | CA496393215 | CDH1 | c.2076T>A (p.Ala692=) c.1893T>A (p.Ala631=) n.294T>A n.2147T>A c.*742T>A (n.*742T>A) c.*316T>A (n.*316T>A) c.2139T>A (p.Ala713=) c.1830+1419T>A (n.1830+1419T>A) c.1865+1384T>A (n.1865+1384T>A) c.1341T>A (p.Ala447=) c.528T>A (p.Ala176=) c.111T>A (p.Ala37=) | |
16 | g.68823538T>C | CA169363 | CDH1 | c.2076T>C (p.Ala692=) c.1893T>C (p.Ala631=) n.294T>C n.2147T>C c.*742T>C (n.*742T>C) c.*316T>C (n.*316T>C) c.2139T>C (p.Ala713=) c.1830+1419T>C (n.1830+1419T>C) c.1865+1384T>C (n.1865+1384T>C) c.1341T>C (p.Ala447=) c.528T>C (p.Ala176=) c.111T>C (p.Ala37=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.68823538T>G | CA496393216 | CDH1 | c.2076T>G (p.Ala692=) c.1893T>G (p.Ala631=) n.294T>G n.2147T>G c.*742T>G (n.*742T>G) c.*316T>G (n.*316T>G) c.2139T>G (p.Ala713=) c.1830+1419T>G (n.1830+1419T>G) c.1865+1384T>G (n.1865+1384T>G) c.1341T>G (p.Ala447=) c.528T>G (p.Ala176=) c.111T>G (p.Ala37=) | ClinVar dbSNP |
16 | g.68823538T= | CA2229983168 | CDH1 | c.2076T= (p.Ala692=) c.1893T= (p.Ala631=) n.294T= n.2147T= c.*742T= (n.*742T=) c.*316T= (n.*316T=) c.2139T= (p.Ala713=) c.1830+1419T= (n.1830+1419T=) c.1865+1384T= (n.1865+1384T=) c.1341T= (p.Ala447=) c.528T= (p.Ala176=) c.111T= (p.Ala37=) | |
16 | g.68823538_68823539del | CA10577549 | CDH1 | c.2076_2077del (p.Gly693ArgfsTer3) c.1893_1894del (p.Gly632ArgfsTer3) n.294_295del n.2147_2148del c.*742_*743del (n.*742_*743del) c.*316_*317del (n.*316_*317del) c.2139_2140del (p.Gly714ArgfsTer3) c.1830+1419_1830+1420del (n.1830+1419_1830+1420del) c.1865+1384_1865+1385del (n.1865+1384_1865+1385del) c.1341_1342del (p.Gly448ArgfsTer3) c.528_529del (p.Gly177ArgfsTer3) c.111_112del (p.Gly38ArgfsTer3) | ClinVar dbSNP |
16 | g.68823538_68823539delinsCA | CA349680 | CDH1 | c.2076_2077delinsCA (p.Gly693Ser) c.1893_1894delinsCA (p.Gly632Ser) n.294_295delinsCA n.2147_2148delinsCA c.*742_*743delinsCA (n.*742_*743delinsCA) c.*316_*317delinsCA (n.*316_*317delinsCA) c.2139_2140delinsCA (p.Gly714Ser) c.1830+1419_1830+1420delinsCA (n.1830+1419_1830+1420delinsCA) c.1865+1384_1865+1385delinsCA (n.1865+1384_1865+1385delinsCA) c.1341_1342delinsCA (p.Gly448Ser) c.528_529delinsCA (p.Gly177Ser) c.111_112delinsCA (p.Gly38Ser) | ClinVar |
16 | g.68823538_68823540delinsCGA | CA2573054266 | CDH1 | c.2076_2078delinsCGA (p.Gly693Asp) c.1893_1895delinsCGA (p.Gly632Asp) n.294_296delinsCGA n.2147_2149delinsCGA c.*742_*744delinsCGA (n.*742_*744delinsCGA) c.*316_*318delinsCGA (n.*316_*318delinsCGA) c.2139_2141delinsCGA (p.Gly714Asp) c.1830+1419_1830+1421delinsCGA (n.1830+1419_1830+1421delinsCGA) c.1865+1384_1865+1386delinsCGA (n.1865+1384_1865+1386delinsCGA) c.1341_1343delinsCGA (p.Gly448Asp) c.528_530delinsCGA (p.Gly177Asp) c.111_113delinsCGA (p.Gly38Asp) | ClinVar dbSNP |
16 | g.68823539G>A | CA164042 | CDH1 | c.2077G>A (p.Gly693Ser) c.1894G>A (p.Gly632Ser) n.295G>A n.2148G>A c.*743G>A (n.*743G>A) c.*317G>A (n.*317G>A) c.2140G>A (p.Gly714Ser) c.1830+1420G>A (n.1830+1420G>A) c.1865+1385G>A (n.1865+1385G>A) c.1342G>A (p.Gly448Ser) c.529G>A (p.Gly177Ser) c.112G>A (p.Gly38Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.68823539G>C | CA396467805 | CDH1 | c.2077G>C (p.Gly693Arg) c.1894G>C (p.Gly632Arg) n.295G>C n.2148G>C c.*743G>C (n.*743G>C) c.*317G>C (n.*317G>C) c.2140G>C (p.Gly714Arg) c.1830+1420G>C (n.1830+1420G>C) c.1865+1385G>C (n.1865+1385G>C) c.1342G>C (p.Gly448Arg) c.529G>C (p.Gly177Arg) c.112G>C (p.Gly38Arg) | dbSNP |
16 | g.68823539G= | CA2229983173 | CDH1 | c.2077G= (p.Gly693=) c.1894G= (p.Gly632=) n.295G= n.2148G= c.*743G= (n.*743G=) c.*317G= (n.*317G=) c.2140G= (p.Gly714=) c.1830+1420G= (n.1830+1420G=) c.1865+1385G= (n.1865+1385G=) c.1342G= (p.Gly448=) c.529G= (p.Gly177=) c.112G= (p.Gly38=) | |
16 | g.68823539G>T | CA396467804 | CDH1 | c.2077G>T (p.Gly693Cys) c.1894G>T (p.Gly632Cys) n.295G>T n.2148G>T c.*743G>T (n.*743G>T) c.*317G>T (n.*317G>T) c.2140G>T (p.Gly714Cys) c.1830+1420G>T (n.1830+1420G>T) c.1865+1385G>T (n.1865+1385G>T) c.1342G>T (p.Gly448Cys) c.529G>T (p.Gly177Cys) c.112G>T (p.Gly38Cys) | dbSNP |
16 | g.68823540del | CA2633932603 | CDH1 | c.2078del (p.Gly693AlafsTer29) c.1895del (p.Gly632AlafsTer29) n.296del n.2149del c.*744del (n.*744del) c.*318del (n.*318del) c.2141del (p.Gly714AlafsTer29) c.1830+1421del (n.1830+1421del) c.1865+1386del (n.1865+1386del) c.1343del (p.Gly448AlafsTer29) c.530del (p.Gly177AlafsTer29) c.113del (p.Gly38AlafsTer29) | gnomAD v4 |
16 | g.68823540G>A | CA396467806 | CDH1 | c.2078G>A (p.Gly693Asp) c.1895G>A (p.Gly632Asp) n.296G>A n.2149G>A c.*744G>A (n.*744G>A) c.*318G>A (n.*318G>A) c.2141G>A (p.Gly714Asp) c.1830+1421G>A (n.1830+1421G>A) c.1865+1386G>A (n.1865+1386G>A) c.1343G>A (p.Gly448Asp) c.530G>A (p.Gly177Asp) c.113G>A (p.Gly38Asp) | |
16 | g.68823540G>C | CA396467807 | CDH1 | c.2078G>C (p.Gly693Ala) c.1895G>C (p.Gly632Ala) n.296G>C n.2149G>C c.*744G>C (n.*744G>C) c.*318G>C (n.*318G>C) c.2141G>C (p.Gly714Ala) c.1830+1421G>C (n.1830+1421G>C) c.1865+1386G>C (n.1865+1386G>C) c.1343G>C (p.Gly448Ala) c.530G>C (p.Gly177Ala) c.113G>C (p.Gly38Ala) | |
16 | g.68823540G>T | CA396467808 | CDH1 | c.2078G>T (p.Gly693Val) c.1895G>T (p.Gly632Val) n.296G>T n.2149G>T c.*744G>T (n.*744G>T) c.*318G>T (n.*318G>T) c.2141G>T (p.Gly714Val) c.1830+1421G>T (n.1830+1421G>T) c.1865+1386G>T (n.1865+1386G>T) c.1343G>T (p.Gly448Val) c.530G>T (p.Gly177Val) c.113G>T (p.Gly38Val) | |
16 | g.68823540_68823547delinsGCGTCTGT | CA2229983179 | CDH1 | c.2078_2085delinsGCGTCTGT (p.Gly693=) c.1895_1902delinsGCGTCTGT (p.Gly632=) n.296_303delinsGCGTCTGT n.2149_2156delinsGCGTCTGT c.*744_*751delinsGCGTCTGT (n.*744_*751delinsGCGTCTGT) c.*318_*325delinsGCGTCTGT (n.*318_*325delinsGCGTCTGT) c.2141_2148delinsGCGTCTGT (p.Gly714=) c.1830+1421_1830+1428delinsGCGTCTGT (n.1830+1421_1830+1428delinsGCGTCTGT) c.1865+1386_1865+1393delinsGCGTCTGT (n.1865+1386_1865+1393delinsGCGTCTGT) c.1343_1350delinsGCGTCTGT (p.Gly448=) c.530_537delinsGCGTCTGT (p.Gly177=) c.113_120delinsGCGTCTGT (p.Gly38=) | |
16 | g.68823541C>A | CA496393219 | CDH1 | c.2079C>A (p.Gly693=) c.1896C>A (p.Gly632=) n.297C>A n.2150C>A c.*745C>A (n.*745C>A) c.*319C>A (n.*319C>A) c.2142C>A (p.Gly714=) c.1830+1422C>A (n.1830+1422C>A) c.1865+1387C>A (n.1865+1387C>A) c.1344C>A (p.Gly448=) c.531C>A (p.Gly177=) c.114C>A (p.Gly38=) | dbSNP |
16 | g.68823541C= | CA2229983185 | CDH1 | c.2079C= (p.Gly693=) c.1896C= (p.Gly632=) n.297C= n.2150C= c.*745C= (n.*745C=) c.*319C= (n.*319C=) c.2142C= (p.Gly714=) c.1830+1422C= (n.1830+1422C=) c.1865+1387C= (n.1865+1387C=) c.1344C= (p.Gly448=) c.531C= (p.Gly177=) c.114C= (p.Gly38=) | |
16 | g.68823541C>G | CA496393220 | CDH1 | c.2079C>G (p.Gly693=) c.1896C>G (p.Gly632=) n.297C>G n.2150C>G c.*745C>G (n.*745C>G) c.*319C>G (n.*319C>G) c.2142C>G (p.Gly714=) c.1830+1422C>G (n.1830+1422C>G) c.1865+1387C>G (n.1865+1387C>G) c.1344C>G (p.Gly448=) c.531C>G (p.Gly177=) c.114C>G (p.Gly38=) | ClinVar dbSNP |
16 | g.68823541C>T | CA189603 | CDH1 | c.2079C>T (p.Gly693=) c.1896C>T (p.Gly632=) n.297C>T n.2150C>T c.*745C>T (n.*745C>T) c.*319C>T (n.*319C>T) c.2142C>T (p.Gly714=) c.1830+1422C>T (n.1830+1422C>T) c.1865+1387C>T (n.1865+1387C>T) c.1344C>T (p.Gly448=) c.531C>T (p.Gly177=) c.114C>T (p.Gly38=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.68823541_68823547del | CA919732112 | CDH1 | c.2079_2085del (p.Val694GlyfsTer26) c.1896_1902del (p.Val633GlyfsTer26) n.297_303del n.2150_2156del c.*745_*751del (n.*745_*751del) c.*319_*325del (n.*319_*325del) c.2142_2148del (p.Val715GlyfsTer26) c.1830+1422_1830+1428del (n.1830+1422_1830+1428del) c.1865+1387_1865+1393del (n.1865+1387_1865+1393del) c.1344_1350del (p.Val449GlyfsTer26) c.531_537del (p.Val178GlyfsTer26) c.114_120del (p.Val39GlyfsTer26) | dbSNP |
16 | g.68823542G>A | CA288051 | CDH1 | c.2080G>A (p.Val694Ile) c.1897G>A (p.Val633Ile) n.298G>A n.2151G>A c.*746G>A (n.*746G>A) c.*320G>A (n.*320G>A) c.2143G>A (p.Val715Ile) c.1830+1423G>A (n.1830+1423G>A) c.1865+1388G>A (n.1865+1388G>A) c.1345G>A (p.Val449Ile) c.532G>A (p.Val178Ile) c.115G>A (p.Val39Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.68823542G>C | CA396467810 | CDH1 | c.2080G>C (p.Val694Leu) c.1897G>C (p.Val633Leu) n.298G>C n.2151G>C c.*746G>C (n.*746G>C) c.*320G>C (n.*320G>C) c.2143G>C (p.Val715Leu) c.1830+1423G>C (n.1830+1423G>C) c.1865+1388G>C (n.1865+1388G>C) c.1345G>C (p.Val449Leu) c.532G>C (p.Val178Leu) c.115G>C (p.Val39Leu) | dbSNP |
16 | g.68823542G= | CA2229983188 | CDH1 | c.2080G= (p.Val694=) c.1897G= (p.Val633=) n.298G= n.2151G= c.*746G= (n.*746G=) c.*320G= (n.*320G=) c.2143G= (p.Val715=) c.1830+1423G= (n.1830+1423G=) c.1865+1388G= (n.1865+1388G=) c.1345G= (p.Val449=) c.532G= (p.Val178=) c.115G= (p.Val39=) | |
16 | g.68823542G>T | CA396467809 | CDH1 | c.2080G>T (p.Val694Phe) c.1897G>T (p.Val633Phe) n.298G>T n.2151G>T c.*746G>T (n.*746G>T) c.*320G>T (n.*320G>T) c.2143G>T (p.Val715Phe) c.1830+1423G>T (n.1830+1423G>T) c.1865+1388G>T (n.1865+1388G>T) c.1345G>T (p.Val449Phe) c.532G>T (p.Val178Phe) c.115G>T (p.Val39Phe) | |
16 | g.68823543T>A | CA396467811 | CDH1 | c.2081T>A (p.Val694Asp) c.1898T>A (p.Val633Asp) n.299T>A n.2152T>A c.*747T>A (n.*747T>A) c.*321T>A (n.*321T>A) c.2144T>A (p.Val715Asp) c.1830+1424T>A (n.1830+1424T>A) c.1865+1389T>A (n.1865+1389T>A) c.1346T>A (p.Val449Asp) c.533T>A (p.Val178Asp) c.116T>A (p.Val39Asp) | dbSNP |
16 | g.68823543T>C | CA396467812 | CDH1 | c.2081T>C (p.Val694Ala) c.1898T>C (p.Val633Ala) n.299T>C n.2152T>C c.*747T>C (n.*747T>C) c.*321T>C (n.*321T>C) c.2144T>C (p.Val715Ala) c.1830+1424T>C (n.1830+1424T>C) c.1865+1389T>C (n.1865+1389T>C) c.1346T>C (p.Val449Ala) c.533T>C (p.Val178Ala) c.116T>C (p.Val39Ala) | dbSNP |
16 | g.68823543T>G | CA396467813 | CDH1 | c.2081T>G (p.Val694Gly) c.1898T>G (p.Val633Gly) n.299T>G n.2152T>G c.*747T>G (n.*747T>G) c.*321T>G (n.*321T>G) c.2144T>G (p.Val715Gly) c.1830+1424T>G (n.1830+1424T>G) c.1865+1389T>G (n.1865+1389T>G) c.1346T>G (p.Val449Gly) c.533T>G (p.Val178Gly) c.116T>G (p.Val39Gly) | dbSNP |
16 | g.68823544C>A | CA496393222 | CDH1 | c.2082C>A (p.Val694=) c.1899C>A (p.Val633=) n.300C>A n.2153C>A c.*748C>A (n.*748C>A) c.*322C>A (n.*322C>A) c.2145C>A (p.Val715=) c.1830+1425C>A (n.1830+1425C>A) c.1865+1390C>A (n.1865+1390C>A) c.1347C>A (p.Val449=) c.534C>A (p.Val178=) c.117C>A (p.Val39=) | dbSNP |
16 | g.68823544C>G | CA496393223 | CDH1 | c.2082C>G (p.Val694=) c.1899C>G (p.Val633=) n.300C>G n.2153C>G c.*748C>G (n.*748C>G) c.*322C>G (n.*322C>G) c.2145C>G (p.Val715=) c.1830+1425C>G (n.1830+1425C>G) c.1865+1390C>G (n.1865+1390C>G) c.1347C>G (p.Val449=) c.534C>G (p.Val178=) c.117C>G (p.Val39=) | ClinVar dbSNP |
16 | g.68823544C>T | CA496393224 | CDH1 | c.2082C>T (p.Val694=) c.1899C>T (p.Val633=) n.300C>T n.2153C>T c.*748C>T (n.*748C>T) c.*322C>T (n.*322C>T) c.2145C>T (p.Val715=) c.1830+1425C>T (n.1830+1425C>T) c.1865+1390C>T (n.1865+1390C>T) c.1347C>T (p.Val449=) c.534C>T (p.Val178=) c.117C>T (p.Val39=) | ClinVar dbSNP |
16 | g.68823548_68823564del | CA891842215 | CDH1 | c.2086_2102del (p.Lys697SerfsTer?) c.1903_1919del (p.Lys636SerfsTer?) n.304_320del n.2157_2173del c.*752_*768del (n.*752_*768del) c.*326_*342del (n.*326_*342del) c.2149_2165del (p.Lys718SerfsTer?) c.1830+1429_1830+1445del (n.1830+1429_1830+1445del) c.1865+1394_1865+1410del (n.1865+1394_1865+1410del) c.1351_1367del (p.Lys452SerfsTer?) c.538_554del (p.Lys181SerfsTer?) c.121_137del (p.Lys42SerfsTer?) | |
16 | g.68823545T>A | CA396467814 | CDH1 | c.2083T>A (p.Cys695Ser) c.1900T>A (p.Cys634Ser) n.301T>A n.2154T>A c.*749T>A (n.*749T>A) c.*323T>A (n.*323T>A) c.2146T>A (p.Cys716Ser) c.1830+1426T>A (n.1830+1426T>A) c.1865+1391T>A (n.1865+1391T>A) c.1348T>A (p.Cys450Ser) c.535T>A (p.Cys179Ser) c.118T>A (p.Cys40Ser) | dbSNP |
16 | g.68823545T>C | CA283312973 | CDH1 | c.2083T>C (p.Cys695Arg) c.1900T>C (p.Cys634Arg) n.301T>C n.2154T>C c.*749T>C (n.*749T>C) c.*323T>C (n.*323T>C) c.2146T>C (p.Cys716Arg) c.1830+1426T>C (n.1830+1426T>C) c.1865+1391T>C (n.1865+1391T>C) c.1348T>C (p.Cys450Arg) c.535T>C (p.Cys179Arg) c.118T>C (p.Cys40Arg) | dbSNP |
16 | g.68823545T>G | CA396467815 | CDH1 | c.2083T>G (p.Cys695Gly) c.1900T>G (p.Cys634Gly) n.301T>G n.2154T>G c.*749T>G (n.*749T>G) c.*323T>G (n.*323T>G) c.2146T>G (p.Cys716Gly) c.1830+1426T>G (n.1830+1426T>G) c.1865+1391T>G (n.1865+1391T>G) c.1348T>G (p.Cys450Gly) c.535T>G (p.Cys179Gly) c.118T>G (p.Cys40Gly) | |
16 | g.68823545T= | CA2229983193 | CDH1 | c.2083T= (p.Cys695=) c.1900T= (p.Cys634=) n.301T= n.2154T= c.*749T= (n.*749T=) c.*323T= (n.*323T=) c.2146T= (p.Cys716=) c.1830+1426T= (n.1830+1426T=) c.1865+1391T= (n.1865+1391T=) c.1348T= (p.Cys450=) c.535T= (p.Cys179=) c.118T= (p.Cys40=) | |
16 | g.68823546G>A | CA396467816 | CDH1 | c.2084G>A (p.Cys695Tyr) c.1901G>A (p.Cys634Tyr) n.302G>A n.2155G>A c.*750G>A (n.*750G>A) c.*324G>A (n.*324G>A) c.2147G>A (p.Cys716Tyr) c.1830+1427G>A (n.1830+1427G>A) c.1865+1392G>A (n.1865+1392G>A) c.1349G>A (p.Cys450Tyr) c.536G>A (p.Cys179Tyr) c.119G>A (p.Cys40Tyr) | ClinVar dbSNP gnomAD v4 |
16 | g.68823546G>C | CA396467818 | CDH1 | c.2084G>C (p.Cys695Ser) c.1901G>C (p.Cys634Ser) n.302G>C n.2155G>C c.*750G>C (n.*750G>C) c.*324G>C (n.*324G>C) c.2147G>C (p.Cys716Ser) c.1830+1427G>C (n.1830+1427G>C) c.1865+1392G>C (n.1865+1392G>C) c.1349G>C (p.Cys450Ser) c.536G>C (p.Cys179Ser) c.119G>C (p.Cys40Ser) | dbSNP |
16 | g.68823546G= | CA2229983196 | CDH1 | c.2084G= (p.Cys695=) c.1901G= (p.Cys634=) n.302G= n.2155G= c.*750G= (n.*750G=) c.*324G= (n.*324G=) c.2147G= (p.Cys716=) c.1830+1427G= (n.1830+1427G=) c.1865+1392G= (n.1865+1392G=) c.1349G= (p.Cys450=) c.536G= (p.Cys179=) c.119G= (p.Cys40=) | |
16 | g.68823546G>T | CA396467817 | CDH1 | c.2084G>T (p.Cys695Phe) c.1901G>T (p.Cys634Phe) n.302G>T n.2155G>T c.*750G>T (n.*750G>T) c.*324G>T (n.*324G>T) c.2147G>T (p.Cys716Phe) c.1830+1427G>T (n.1830+1427G>T) c.1865+1392G>T (n.1865+1392G>T) c.1349G>T (p.Cys450Phe) c.536G>T (p.Cys179Phe) c.119G>T (p.Cys40Phe) | |
16 | g.68823547T>A | CA396467819 | CDH1 | c.2085T>A (p.Cys695Ter) c.1902T>A (p.Cys634Ter) n.303T>A n.2156T>A c.*751T>A (n.*751T>A) c.*325T>A (n.*325T>A) c.2148T>A (p.Cys716Ter) c.1830+1428T>A (n.1830+1428T>A) c.1865+1393T>A (n.1865+1393T>A) c.1350T>A (p.Cys450Ter) c.537T>A (p.Cys179Ter) c.120T>A (p.Cys40Ter) | dbSNP |
16 | g.68823547T>C | CA496393228 | CDH1 | c.2085T>C (p.Cys695=) c.1902T>C (p.Cys634=) n.303T>C n.2156T>C c.*751T>C (n.*751T>C) c.*325T>C (n.*325T>C) c.2148T>C (p.Cys716=) c.1830+1428T>C (n.1830+1428T>C) c.1865+1393T>C (n.1865+1393T>C) c.1350T>C (p.Cys450=) c.537T>C (p.Cys179=) c.120T>C (p.Cys40=) | ClinVar dbSNP |
16 | g.68823547T>G | CA396467820 | CDH1 | c.2085T>G (p.Cys695Trp) c.1902T>G (p.Cys634Trp) n.303T>G n.2156T>G c.*751T>G (n.*751T>G) c.*325T>G (n.*325T>G) c.2148T>G (p.Cys716Trp) c.1830+1428T>G (n.1830+1428T>G) c.1865+1393T>G (n.1865+1393T>G) c.1350T>G (p.Cys450Trp) c.537T>G (p.Cys179Trp) c.120T>G (p.Cys40Trp) | dbSNP |
16 | g.68823547T= | CA2229983199 | CDH1 | c.2085T= (p.Cys695=) c.1902T= (p.Cys634=) n.303T= n.2156T= c.*751T= (n.*751T=) c.*325T= (n.*325T=) c.2148T= (p.Cys716=) c.1830+1428T= (n.1830+1428T=) c.1865+1393T= (n.1865+1393T=) c.1350T= (p.Cys450=) c.537T= (p.Cys179=) c.120T= (p.Cys40=) | |
16 | g.68823548A>C | CA496392444 | CDH1 | c.2086A>C (p.Arg696=) c.1903A>C (p.Arg635=) n.304A>C n.2157A>C c.*752A>C (n.*752A>C) c.*326A>C (n.*326A>C) c.2149A>C (p.Arg717=) c.1830+1429A>C (n.1830+1429A>C) c.1865+1394A>C (n.1865+1394A>C) c.1351A>C (p.Arg451=) c.538A>C (p.Arg180=) c.121A>C (p.Arg41=) | |
16 | g.68823548A>G | CA396467821 | CDH1 | c.2086A>G (p.Arg696Gly) c.1903A>G (p.Arg635Gly) n.304A>G n.2157A>G c.*752A>G (n.*752A>G) c.*326A>G (n.*326A>G) c.2149A>G (p.Arg717Gly) c.1830+1429A>G (n.1830+1429A>G) c.1865+1394A>G (n.1865+1394A>G) c.1351A>G (p.Arg451Gly) c.538A>G (p.Arg180Gly) c.121A>G (p.Arg41Gly) | dbSNP |
16 | g.68823548A>T | CA396467822 | CDH1 | c.2086A>T (p.Arg696Trp) c.1903A>T (p.Arg635Trp) n.304A>T n.2157A>T c.*752A>T (n.*752A>T) c.*326A>T (n.*326A>T) c.2149A>T (p.Arg717Trp) c.1830+1429A>T (n.1830+1429A>T) c.1865+1394A>T (n.1865+1394A>T) c.1351A>T (p.Arg451Trp) c.538A>T (p.Arg180Trp) c.121A>T (p.Arg41Trp) | dbSNP |