| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107919010G>A | CA368859373 | DLD | c.1375G>A (p.Gly459Ser) c.*1049G>A (n.*1049G>A) c.1231G>A (p.Gly411Ser) c.1306G>A (p.Gly436Ser) c.1078G>A (p.Gly360Ser) | |
| 7 | g.107919010G>C | CA368859375 | DLD | c.1375G>C (p.Gly459Arg) c.*1049G>C (n.*1049G>C) c.1231G>C (p.Gly411Arg) c.1306G>C (p.Gly436Arg) c.1078G>C (p.Gly360Arg) | |
| 7 | g.107919010G>T | CA368859374 | DLD | c.1375G>T (p.Gly459Cys) c.*1049G>T (n.*1049G>T) c.1231G>T (p.Gly411Cys) c.1306G>T (p.Gly436Cys) c.1078G>T (p.Gly360Cys) | |
| 7 | g.107919011G>A | CA368859376 | DLD | c.1376G>A (p.Gly459Asp) c.*1050G>A (n.*1050G>A) c.1232G>A (p.Gly411Asp) c.1307G>A (p.Gly436Asp) c.1079G>A (p.Gly360Asp) | |
| 7 | g.107919011G>C | CA368859377 | DLD | c.1376G>C (p.Gly459Ala) c.*1050G>C (n.*1050G>C) c.1232G>C (p.Gly411Ala) c.1307G>C (p.Gly436Ala) c.1079G>C (p.Gly360Ala) | |
| 7 | g.107919011G= | CA1732860713 | DLD | c.1376G= (p.Gly459=) c.*1050G= (n.*1050G=) c.1232G= (p.Gly411=) c.1307G= (p.Gly436=) c.1079G= (p.Gly360=) | |
| 7 | g.107919011G>T | CA368859378 | DLD | c.1376G>T (p.Gly459Val) c.*1050G>T (n.*1050G>T) c.1232G>T (p.Gly411Val) c.1307G>T (p.Gly436Val) c.1079G>T (p.Gly360Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919012T>A | CA457109775 | DLD | c.1377T>A (p.Gly459=) c.*1051T>A (n.*1051T>A) c.1233T>A (p.Gly411=) c.1308T>A (p.Gly436=) c.1080T>A (p.Gly360=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107919012T>C | CA457109776 | DLD | c.1377T>C (p.Gly459=) c.*1051T>C (n.*1051T>C) c.1233T>C (p.Gly411=) c.1308T>C (p.Gly436=) c.1080T>C (p.Gly360=) | |
| 7 | g.107919012T>G | CA457109777 | DLD | c.1377T>G (p.Gly459=) c.*1051T>G (n.*1051T>G) c.1233T>G (p.Gly411=) c.1308T>G (p.Gly436=) c.1080T>G (p.Gly360=) | |
| 7 | g.107919012T= | CA1732860714 | DLD | c.1377T= (p.Gly459=) c.*1051T= (n.*1051T=) c.1233T= (p.Gly411=) c.1308T= (p.Gly436=) c.1080T= (p.Gly360=) | |
| 7 | g.107919013G>A | CA368859379 | DLD | c.1378G>A (p.Ala460Thr) c.*1052G>A (n.*1052G>A) c.1234G>A (p.Ala412Thr) c.1309G>A (p.Ala437Thr) c.1081G>A (p.Ala361Thr) | |
| 7 | g.107919013G>C | CA368859380 | DLD | c.1378G>C (p.Ala460Pro) c.*1052G>C (n.*1052G>C) c.1234G>C (p.Ala412Pro) c.1309G>C (p.Ala437Pro) c.1081G>C (p.Ala361Pro) | |
| 7 | g.107919013G>T | CA368859381 | DLD | c.1378G>T (p.Ala460Ser) c.*1052G>T (n.*1052G>T) c.1234G>T (p.Ala412Ser) c.1309G>T (p.Ala437Ser) c.1081G>T (p.Ala361Ser) | |
| 7 | g.107919014C>A | CA368859382 | DLD | c.1379C>A (p.Ala460Asp) c.*1053C>A (n.*1053C>A) c.1235C>A (p.Ala412Asp) c.1310C>A (p.Ala437Asp) c.1082C>A (p.Ala361Asp) | |
| 7 | g.107919014C>G | CA368859383 | DLD | c.1379C>G (p.Ala460Gly) c.*1053C>G (n.*1053C>G) c.1235C>G (p.Ala412Gly) c.1310C>G (p.Ala437Gly) c.1082C>G (p.Ala361Gly) | |
| 7 | g.107919014C>T | CA368859384 | DLD | c.1379C>T (p.Ala460Val) c.*1053C>T (n.*1053C>T) c.1235C>T (p.Ala412Val) c.1310C>T (p.Ala437Val) c.1082C>T (p.Ala361Val) | |
| 7 | g.107919015T>A | CA457109780 | DLD | c.1380T>A (p.Ala460=) c.*1054T>A (n.*1054T>A) c.1236T>A (p.Ala412=) c.1311T>A (p.Ala437=) c.1083T>A (p.Ala361=) | |
| 7 | g.107919015T>C | CA457109779 | DLD | c.1380T>C (p.Ala460=) c.*1054T>C (n.*1054T>C) c.1236T>C (p.Ala412=) c.1311T>C (p.Ala437=) c.1083T>C (p.Ala361=) | gnomAD v4 |
| 7 | g.107919015T>G | CA457109778 | DLD | c.1380T>G (p.Ala460=) c.*1054T>G (n.*1054T>G) c.1236T>G (p.Ala412=) c.1311T>G (p.Ala437=) c.1083T>G (p.Ala361=) | |
| 7 | g.107919016G>A | CA368859385 | DLD | c.1381G>A (p.Gly461Arg) c.*1055G>A (n.*1055G>A) c.1237G>A (p.Gly413Arg) c.1312G>A (p.Gly438Arg) c.1084G>A (p.Gly362Arg) | gnomAD v4 |
| 7 | g.107919016G>C | CA368859386 | DLD | c.1381G>C (p.Gly461Arg) c.*1055G>C (n.*1055G>C) c.1237G>C (p.Gly413Arg) c.1312G>C (p.Gly438Arg) c.1084G>C (p.Gly362Arg) | |
| 7 | g.107919016G>T | CA368859387 | DLD | c.1381G>T (p.Gly461Ter) c.*1055G>T (n.*1055G>T) c.1237G>T (p.Gly413Ter) c.1312G>T (p.Gly438Ter) c.1084G>T (p.Gly362Ter) | |
| 7 | g.107919017G>A | CA312474 | DLD | c.1382G>A (p.Gly461Glu) c.*1056G>A (n.*1056G>A) c.1238G>A (p.Gly413Glu) c.1313G>A (p.Gly438Glu) c.1085G>A (p.Gly362Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919017G>C | CA368859388 | DLD | c.1382G>C (p.Gly461Ala) c.*1056G>C (n.*1056G>C) c.1238G>C (p.Gly413Ala) c.1313G>C (p.Gly438Ala) c.1085G>C (p.Gly362Ala) | dbSNP |
| 7 | g.107919017G= | CA1732860715 | DLD | c.1382G= (p.Gly461=) c.*1056G= (n.*1056G=) c.1238G= (p.Gly413=) c.1313G= (p.Gly438=) c.1085G= (p.Gly362=) | |
| 7 | g.107919017G>T | CA368859389 | DLD | c.1382G>T (p.Gly461Val) c.*1056G>T (n.*1056G>T) c.1238G>T (p.Gly413Val) c.1313G>T (p.Gly438Val) c.1085G>T (p.Gly362Val) | |
| 7 | g.107919018A>C | CA457109781 | DLD | c.1383A>C (p.Gly461=) c.*1057A>C (n.*1057A>C) c.1239A>C (p.Gly413=) c.1314A>C (p.Gly438=) c.1086A>C (p.Gly362=) | |
| 7 | g.107919018A>G | CA457109782 | DLD | c.1383A>G (p.Gly461=) c.*1057A>G (n.*1057A>G) c.1239A>G (p.Gly413=) c.1314A>G (p.Gly438=) c.1086A>G (p.Gly362=) | |
| 7 | g.107919018A>T | CA457109783 | DLD | c.1383A>T (p.Gly461=) c.*1057A>T (n.*1057A>T) c.1239A>T (p.Gly413=) c.1314A>T (p.Gly438=) c.1086A>T (p.Gly362=) | |
| 7 | g.107919019G>A | CA4434699 | DLD | c.1384G>A (p.Glu462Lys) c.*1058G>A (n.*1058G>A) c.1240G>A (p.Glu414Lys) c.1315G>A (p.Glu439Lys) c.1087G>A (p.Glu363Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919019G>C | CA368859390 | DLD | c.1384G>C (p.Glu462Gln) c.*1058G>C (n.*1058G>C) c.1240G>C (p.Glu414Gln) c.1315G>C (p.Glu439Gln) c.1087G>C (p.Glu363Gln) | |
| 7 | g.107919019G= | CA1732860716 | DLD | c.1384G= (p.Glu462=) c.*1058G= (n.*1058G=) c.1240G= (p.Glu414=) c.1315G= (p.Glu439=) c.1087G= (p.Glu363=) | |
| 7 | g.107919019G>T | CA368859391 | DLD | c.1384G>T (p.Glu462Ter) c.*1058G>T (n.*1058G>T) c.1240G>T (p.Glu414Ter) c.1315G>T (p.Glu439Ter) c.1087G>T (p.Glu363Ter) | |
| 7 | g.107919020A>C | CA368859392 | DLD | c.1385A>C (p.Glu462Ala) c.*1059A>C (n.*1059A>C) c.1241A>C (p.Glu414Ala) c.1316A>C (p.Glu439Ala) c.1088A>C (p.Glu363Ala) | |
| 7 | g.107919020A>G | CA368859393 | DLD | c.1385A>G (p.Glu462Gly) c.*1059A>G (n.*1059A>G) c.1241A>G (p.Glu414Gly) c.1316A>G (p.Glu439Gly) c.1088A>G (p.Glu363Gly) | |
| 7 | g.107919020A>T | CA368859394 | DLD | c.1385A>T (p.Glu462Val) c.*1059A>T (n.*1059A>T) c.1241A>T (p.Glu414Val) c.1316A>T (p.Glu439Val) c.1088A>T (p.Glu363Val) | |
| 7 | g.107919021A>C | CA368859396 | DLD | c.1386A>C (p.Glu462Asp) c.*1060A>C (n.*1060A>C) c.1242A>C (p.Glu414Asp) c.1317A>C (p.Glu439Asp) c.1089A>C (p.Glu363Asp) | |
| 7 | g.107919021A>G | CA457109784 | DLD | c.1386A>G (p.Glu462=) c.*1060A>G (n.*1060A>G) c.1242A>G (p.Glu414=) c.1317A>G (p.Glu439=) c.1089A>G (p.Glu363=) | |
| 7 | g.107919021A>T | CA368859395 | DLD | c.1386A>T (p.Glu462Asp) c.*1060A>T (n.*1060A>T) c.1242A>T (p.Glu414Asp) c.1317A>T (p.Glu439Asp) c.1089A>T (p.Glu363Asp) | |
| 7 | g.107919022A>C | CA368859397 | DLD | c.1387A>C (p.Met463Leu) c.*1061A>C (n.*1061A>C) c.1243A>C (p.Met415Leu) c.1318A>C (p.Met440Leu) c.1090A>C (p.Met364Leu) | |
| 7 | g.107919022A>G | CA368859398 | DLD | c.1387A>G (p.Met463Val) c.*1061A>G (n.*1061A>G) c.1243A>G (p.Met415Val) c.1318A>G (p.Met440Val) c.1090A>G (p.Met364Val) | gnomAD v4 |
| 7 | g.107919022A>T | CA368859399 | DLD | c.1387A>T (p.Met463Leu) c.*1061A>T (n.*1061A>T) c.1243A>T (p.Met415Leu) c.1318A>T (p.Met440Leu) c.1090A>T (p.Met364Leu) | |
| 7 | g.107919023T>A | CA368859400 | DLD | c.1388T>A (p.Met463Lys) c.*1062T>A (n.*1062T>A) c.1244T>A (p.Met415Lys) c.1319T>A (p.Met440Lys) c.1091T>A (p.Met364Lys) | dbSNP |
| 7 | g.107919023T>C | CA368859401 | DLD | c.1388T>C (p.Met463Thr) c.*1062T>C (n.*1062T>C) c.1244T>C (p.Met415Thr) c.1319T>C (p.Met440Thr) c.1091T>C (p.Met364Thr) | |
| 7 | g.107919023T>G | CA368859402 | DLD | c.1388T>G (p.Met463Arg) c.*1062T>G (n.*1062T>G) c.1244T>G (p.Met415Arg) c.1319T>G (p.Met440Arg) c.1091T>G (p.Met364Arg) | |
| 7 | g.107919023T= | CA1732860717 | DLD | c.1388T= (p.Met463=) c.*1062T= (n.*1062T=) c.1244T= (p.Met415=) c.1319T= (p.Met440=) c.1091T= (p.Met364=) | |
| 7 | g.107919024G>A | CA368859405 | DLD | c.1389G>A (p.Met463Ile) c.*1063G>A (n.*1063G>A) c.1245G>A (p.Met415Ile) c.1320G>A (p.Met440Ile) c.1092G>A (p.Met364Ile) | |
| 7 | g.107919024G>C | CA368859403 | DLD | c.1389G>C (p.Met463Ile) c.*1063G>C (n.*1063G>C) c.1245G>C (p.Met415Ile) c.1320G>C (p.Met440Ile) c.1092G>C (p.Met364Ile) | |
| 7 | g.107919024G>T | CA368859404 | DLD | c.1389G>T (p.Met463Ile) c.*1063G>T (n.*1063G>T) c.1245G>T (p.Met415Ile) c.1320G>T (p.Met440Ile) c.1092G>T (p.Met364Ile) | |
| 7 | g.107919025G>A | CA368859406 | DLD | c.1390G>A (p.Val464Ile) c.*1064G>A (n.*1064G>A) c.1246G>A (p.Val416Ile) c.1321G>A (p.Val441Ile) c.1093G>A (p.Val365Ile) | gnomAD v4 |
| 7 | g.107919025G>C | CA368859407 | DLD | c.1390G>C (p.Val464Leu) c.*1064G>C (n.*1064G>C) c.1246G>C (p.Val416Leu) c.1321G>C (p.Val441Leu) c.1093G>C (p.Val365Leu) | |
| 7 | g.107919025G>T | CA368859408 | DLD | c.1390G>T (p.Val464Leu) c.*1064G>T (n.*1064G>T) c.1246G>T (p.Val416Leu) c.1321G>T (p.Val441Leu) c.1093G>T (p.Val365Leu) | |
| 7 | g.107919026T>A | CA368859409 | DLD | c.1391T>A (p.Val464Glu) c.*1065T>A (n.*1065T>A) c.1247T>A (p.Val416Glu) c.1322T>A (p.Val441Glu) c.1094T>A (p.Val365Glu) | |
| 7 | g.107919026T>C | CA368859410 | DLD | c.1391T>C (p.Val464Ala) c.*1065T>C (n.*1065T>C) c.1247T>C (p.Val416Ala) c.1322T>C (p.Val441Ala) c.1094T>C (p.Val365Ala) | |
| 7 | g.107919026T>G | CA368859411 | DLD | c.1391T>G (p.Val464Gly) c.*1065T>G (n.*1065T>G) c.1247T>G (p.Val416Gly) c.1322T>G (p.Val441Gly) c.1094T>G (p.Val365Gly) | |
| 7 | g.107919027A= | CA1732860718 | DLD | c.1392A= (p.Val464=) c.*1066A= (n.*1066A=) c.1248A= (p.Val416=) c.1323A= (p.Val441=) c.1095A= (p.Val365=) | |
| 7 | g.107919027A>C | CA457109785 | DLD | c.1392A>C (p.Val464=) c.*1066A>C (n.*1066A>C) c.1248A>C (p.Val416=) c.1323A>C (p.Val441=) c.1095A>C (p.Val365=) | |
| 7 | g.107919027A>G | CA457109786 | DLD | c.1392A>G (p.Val464=) c.*1066A>G (n.*1066A>G) c.1248A>G (p.Val416=) c.1323A>G (p.Val441=) c.1095A>G (p.Val365=) | |
| 7 | g.107919027A>T | CA457109787 | DLD | c.1392A>T (p.Val464=) c.*1066A>T (n.*1066A>T) c.1248A>T (p.Val416=) c.1323A>T (p.Val441=) c.1095A>T (p.Val365=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919028A= | CA1732860719 | DLD | c.1393A= (p.Asn465=) c.*1067A= (n.*1067A=) c.1249A= (p.Asn417=) c.1324A= (p.Asn442=) c.1096A= (p.Asn366=) | |
| 7 | g.107919028A>C | CA368859412 | DLD | c.1393A>C (p.Asn465His) c.*1067A>C (n.*1067A>C) c.1249A>C (p.Asn417His) c.1324A>C (p.Asn442His) c.1096A>C (p.Asn366His) | |
| 7 | g.107919028A>G | CA368859413 | DLD | c.1393A>G (p.Asn465Asp) c.*1067A>G (n.*1067A>G) c.1249A>G (p.Asn417Asp) c.1324A>G (p.Asn442Asp) c.1096A>G (p.Asn366Asp) | dbSNP |
| 7 | g.107919028A>T | CA368859414 | DLD | c.1393A>T (p.Asn465Tyr) c.*1067A>T (n.*1067A>T) c.1249A>T (p.Asn417Tyr) c.1324A>T (p.Asn442Tyr) c.1096A>T (p.Asn366Tyr) | |
| 7 | g.107919029A>C | CA368859415 | DLD | c.1394A>C (p.Asn465Thr) c.*1068A>C (n.*1068A>C) c.1250A>C (p.Asn417Thr) c.1325A>C (p.Asn442Thr) c.1097A>C (p.Asn366Thr) | |
| 7 | g.107919029A>G | CA368859416 | DLD | c.1394A>G (p.Asn465Ser) c.*1068A>G (n.*1068A>G) c.1250A>G (p.Asn417Ser) c.1325A>G (p.Asn442Ser) c.1097A>G (p.Asn366Ser) | |
| 7 | g.107919029A>T | CA368859417 | DLD | c.1394A>T (p.Asn465Ile) c.*1068A>T (n.*1068A>T) c.1250A>T (p.Asn417Ile) c.1325A>T (p.Asn442Ile) c.1097A>T (p.Asn366Ile) | |
| 7 | g.107919030T>A | CA368859418 | DLD | c.1395T>A (p.Asn465Lys) c.*1069T>A (n.*1069T>A) c.1251T>A (p.Asn417Lys) c.1326T>A (p.Asn442Lys) c.1098T>A (p.Asn366Lys) | |
| 7 | g.107919030T>C | CA4434700 | DLD | c.1395T>C (p.Asn465=) c.*1069T>C (n.*1069T>C) c.1251T>C (p.Asn417=) c.1326T>C (p.Asn442=) c.1098T>C (p.Asn366=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919030T>G | CA368859419 | DLD | c.1395T>G (p.Asn465Lys) c.*1069T>G (n.*1069T>G) c.1251T>G (p.Asn417Lys) c.1326T>G (p.Asn442Lys) c.1098T>G (p.Asn366Lys) | |
| 7 | g.107919030T= | CA1732860720 | DLD | c.1395T= (p.Asn465=) c.*1069T= (n.*1069T=) c.1251T= (p.Asn417=) c.1326T= (p.Asn442=) c.1098T= (p.Asn366=) | |
| 7 | g.107919031G>A | CA368859420 | DLD | c.1396G>A (p.Glu466Lys) c.*1070G>A (n.*1070G>A) c.1252G>A (p.Glu418Lys) c.1327G>A (p.Glu443Lys) c.1099G>A (p.Glu367Lys) | |
| 7 | g.107919031G>C | CA368859421 | DLD | c.1396G>C (p.Glu466Gln) c.*1070G>C (n.*1070G>C) c.1252G>C (p.Glu418Gln) c.1327G>C (p.Glu443Gln) c.1099G>C (p.Glu367Gln) | |
| 7 | g.107919031G>T | CA368859422 | DLD | c.1396G>T (p.Glu466Ter) c.*1070G>T (n.*1070G>T) c.1252G>T (p.Glu418Ter) c.1327G>T (p.Glu443Ter) c.1099G>T (p.Glu367Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107919032A>C | CA368859423 | DLD | c.1397A>C (p.Glu466Ala) c.*1071A>C (n.*1071A>C) c.1253A>C (p.Glu418Ala) c.1328A>C (p.Glu443Ala) c.1100A>C (p.Glu367Ala) | |
| 7 | g.107919032A>G | CA368859424 | DLD | c.1397A>G (p.Glu466Gly) c.*1071A>G (n.*1071A>G) c.1253A>G (p.Glu418Gly) c.1328A>G (p.Glu443Gly) c.1100A>G (p.Glu367Gly) | |
| 7 | g.107919032A>T | CA368859425 | DLD | c.1397A>T (p.Glu466Val) c.*1071A>T (n.*1071A>T) c.1253A>T (p.Glu418Val) c.1328A>T (p.Glu443Val) c.1100A>T (p.Glu367Val) | |
| 7 | g.107919033A>C | CA368859427 | DLD | c.1398A>C (p.Glu466Asp) c.*1072A>C (n.*1072A>C) c.1254A>C (p.Glu418Asp) c.1329A>C (p.Glu443Asp) c.1101A>C (p.Glu367Asp) | |
| 7 | g.107919033A>G | CA457109788 | DLD | c.1398A>G (p.Glu466=) c.*1072A>G (n.*1072A>G) c.1254A>G (p.Glu418=) c.1329A>G (p.Glu443=) c.1101A>G (p.Glu367=) | |
| 7 | g.107919033A>T | CA368859426 | DLD | c.1398A>T (p.Glu466Asp) c.*1072A>T (n.*1072A>T) c.1254A>T (p.Glu418Asp) c.1329A>T (p.Glu443Asp) c.1101A>T (p.Glu367Asp) | |
| 7 | g.107919034G>A | CA368859428 | DLD | c.1399G>A (p.Ala467Thr) c.*1073G>A (n.*1073G>A) c.1255G>A (p.Ala419Thr) c.1330G>A (p.Ala444Thr) c.1102G>A (p.Ala368Thr) | |
| 7 | g.107919034G>C | CA368859429 | DLD | c.1399G>C (p.Ala467Pro) c.*1073G>C (n.*1073G>C) c.1255G>C (p.Ala419Pro) c.1330G>C (p.Ala444Pro) c.1102G>C (p.Ala368Pro) | gnomAD v4 |
| 7 | g.107919034G>T | CA368859430 | DLD | c.1399G>T (p.Ala467Ser) c.*1073G>T (n.*1073G>T) c.1255G>T (p.Ala419Ser) c.1330G>T (p.Ala444Ser) c.1102G>T (p.Ala368Ser) | |
| 7 | g.107919035C>A | CA368859431 | DLD | c.1400C>A (p.Ala467Asp) c.*1074C>A (n.*1074C>A) c.1256C>A (p.Ala419Asp) c.1331C>A (p.Ala444Asp) c.1103C>A (p.Ala368Asp) | |
| 7 | g.107919035C>G | CA368859432 | DLD | c.1400C>G (p.Ala467Gly) c.*1074C>G (n.*1074C>G) c.1256C>G (p.Ala419Gly) c.1331C>G (p.Ala444Gly) c.1103C>G (p.Ala368Gly) | |
| 7 | g.107919035C>T | CA368859433 | DLD | c.1400C>T (p.Ala467Val) c.*1074C>T (n.*1074C>T) c.1256C>T (p.Ala419Val) c.1331C>T (p.Ala444Val) c.1103C>T (p.Ala368Val) | |
| 7 | g.107919036T>A | CA457109791 | DLD | c.1401T>A (p.Ala467=) c.*1075T>A (n.*1075T>A) c.1257T>A (p.Ala419=) c.1332T>A (p.Ala444=) c.1104T>A (p.Ala368=) | |
| 7 | g.107919036T>C | CA457109790 | DLD | c.1401T>C (p.Ala467=) c.*1075T>C (n.*1075T>C) c.1257T>C (p.Ala419=) c.1332T>C (p.Ala444=) c.1104T>C (p.Ala368=) | |
| 7 | g.107919036T>G | CA457109789 | DLD | c.1401T>G (p.Ala467=) c.*1075T>G (n.*1075T>G) c.1257T>G (p.Ala419=) c.1332T>G (p.Ala444=) c.1104T>G (p.Ala368=) | |
| 7 | g.107919037G>A | CA368859436 | DLD | c.1402G>A (p.Ala468Thr) c.*1076G>A (n.*1076G>A) c.1258G>A (p.Ala420Thr) c.1333G>A (p.Ala445Thr) c.1105G>A (p.Ala369Thr) | |
| 7 | g.107919037G>C | CA368859434 | DLD | c.1402G>C (p.Ala468Pro) c.*1076G>C (n.*1076G>C) c.1258G>C (p.Ala420Pro) c.1333G>C (p.Ala445Pro) c.1105G>C (p.Ala369Pro) | |
| 7 | g.107919037G>T | CA368859435 | DLD | c.1402G>T (p.Ala468Ser) c.*1076G>T (n.*1076G>T) c.1258G>T (p.Ala420Ser) c.1333G>T (p.Ala445Ser) c.1105G>T (p.Ala369Ser) | |
| 7 | g.107919038C>A | CA368859437 | DLD | c.1403C>A (p.Ala468Asp) c.*1077C>A (n.*1077C>A) c.1259C>A (p.Ala420Asp) c.1334C>A (p.Ala445Asp) c.1106C>A (p.Ala369Asp) | |
| 7 | g.107919038C= | CA1732860721 | DLD | c.1403C= (p.Ala468=) c.*1077C= (n.*1077C=) c.1259C= (p.Ala420=) c.1334C= (p.Ala445=) c.1106C= (p.Ala369=) | |
| 7 | g.107919038C>G | CA4434701 | DLD | c.1403C>G (p.Ala468Gly) c.*1077C>G (n.*1077C>G) c.1259C>G (p.Ala420Gly) c.1334C>G (p.Ala445Gly) c.1106C>G (p.Ala369Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919038C>T | CA368859438 | DLD | c.1403C>T (p.Ala468Val) c.*1077C>T (n.*1077C>T) c.1259C>T (p.Ala420Val) c.1334C>T (p.Ala445Val) c.1106C>T (p.Ala369Val) | |
| 7 | g.107919039T>A | CA457109792 | DLD | c.1404T>A (p.Ala468=) c.*1078T>A (n.*1078T>A) c.1260T>A (p.Ala420=) c.1335T>A (p.Ala445=) c.1107T>A (p.Ala369=) | |
| 7 | g.107919039T>C | CA457109793 | DLD | c.1404T>C (p.Ala468=) c.*1078T>C (n.*1078T>C) c.1260T>C (p.Ala420=) c.1335T>C (p.Ala445=) c.1107T>C (p.Ala369=) | dbSNP gnomAD v4 |
| 7 | g.107919039T>G | CA457109794 | DLD | c.1404T>G (p.Ala468=) c.*1078T>G (n.*1078T>G) c.1260T>G (p.Ala420=) c.1335T>G (p.Ala445=) c.1107T>G (p.Ala369=) | |
| 7 | g.107919039T= | CA1732860722 | DLD | c.1404T= (p.Ala468=) c.*1078T= (n.*1078T=) c.1260T= (p.Ala420=) c.1335T= (p.Ala445=) c.1107T= (p.Ala369=) | |
| 7 | g.107919040C>A | CA368859439 | DLD | c.1405C>A (p.Leu469Ile) c.*1079C>A (n.*1079C>A) c.1261C>A (p.Leu421Ile) c.1336C>A (p.Leu446Ile) c.1108C>A (p.Leu370Ile) | |
| 7 | g.107919040C>G | CA368859440 | DLD | c.1405C>G (p.Leu469Val) c.*1079C>G (n.*1079C>G) c.1261C>G (p.Leu421Val) c.1336C>G (p.Leu446Val) c.1108C>G (p.Leu370Val) | |
| 7 | g.107919040C>T | CA368859441 | DLD | c.1405C>T (p.Leu469Phe) c.*1079C>T (n.*1079C>T) c.1261C>T (p.Leu421Phe) c.1336C>T (p.Leu446Phe) c.1108C>T (p.Leu370Phe) | |
| 7 | g.107919041T>A | CA368859442 | DLD | c.1406T>A (p.Leu469His) c.*1080T>A (n.*1080T>A) c.1262T>A (p.Leu421His) c.1337T>A (p.Leu446His) c.1109T>A (p.Leu370His) | |
| 7 | g.107919041T>C | CA368859443 | DLD | c.1406T>C (p.Leu469Pro) c.*1080T>C (n.*1080T>C) c.1262T>C (p.Leu421Pro) c.1337T>C (p.Leu446Pro) c.1109T>C (p.Leu370Pro) | |
| 7 | g.107919041T>G | CA368859444 | DLD | c.1406T>G (p.Leu469Arg) c.*1080T>G (n.*1080T>G) c.1262T>G (p.Leu421Arg) c.1337T>G (p.Leu446Arg) c.1109T>G (p.Leu370Arg) | |
| 7 | g.107919042T>A | CA457109795 | DLD | c.1407T>A (p.Leu469=) c.*1081T>A (n.*1081T>A) c.1263T>A (p.Leu421=) c.1338T>A (p.Leu446=) c.1110T>A (p.Leu370=) | |
| 7 | g.107919042T>C | CA457109797 | DLD | c.1407T>C (p.Leu469=) c.*1081T>C (n.*1081T>C) c.1263T>C (p.Leu421=) c.1338T>C (p.Leu446=) c.1110T>C (p.Leu370=) | |
| 7 | g.107919042T>G | CA457109796 | DLD | c.1407T>G (p.Leu469=) c.*1081T>G (n.*1081T>G) c.1263T>G (p.Leu421=) c.1338T>G (p.Leu446=) c.1110T>G (p.Leu370=) | |
| 7 | g.107919043G>A | CA4434702 | DLD | c.1408G>A (p.Ala470Thr) c.*1082G>A (n.*1082G>A) c.1264G>A (p.Ala422Thr) c.1339G>A (p.Ala447Thr) c.1111G>A (p.Ala371Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919043G>C | CA368859445 | DLD | c.1408G>C (p.Ala470Pro) c.*1082G>C (n.*1082G>C) c.1264G>C (p.Ala422Pro) c.1339G>C (p.Ala447Pro) c.1111G>C (p.Ala371Pro) | |
| 7 | g.107919043G= | CA1732860723 | DLD | c.1408G= (p.Ala470=) c.*1082G= (n.*1082G=) c.1264G= (p.Ala422=) c.1339G= (p.Ala447=) c.1111G= (p.Ala371=) | |
| 7 | g.107919043G>T | CA368859446 | DLD | c.1408G>T (p.Ala470Ser) c.*1082G>T (n.*1082G>T) c.1264G>T (p.Ala422Ser) c.1339G>T (p.Ala447Ser) c.1111G>T (p.Ala371Ser) | |
| 7 | g.107919044C>A | CA368859447 | DLD | c.1409C>A (p.Ala470Asp) c.*1083C>A (n.*1083C>A) c.1265C>A (p.Ala422Asp) c.1340C>A (p.Ala447Asp) c.1112C>A (p.Ala371Asp) | |
| 7 | g.107919044C= | CA1732860724 | DLD | c.1409C= (p.Ala470=) c.*1083C= (n.*1083C=) c.1265C= (p.Ala422=) c.1340C= (p.Ala447=) c.1112C= (p.Ala371=) | |
| 7 | g.107919044C>G | CA368859449 | DLD | c.1409C>G (p.Ala470Gly) c.*1083C>G (n.*1083C>G) c.1265C>G (p.Ala422Gly) c.1340C>G (p.Ala447Gly) c.1112C>G (p.Ala371Gly) | dbSNP gnomAD v4 |
| 7 | g.107919044C>T | CA368859448 | DLD | c.1409C>T (p.Ala470Val) c.*1083C>T (n.*1083C>T) c.1265C>T (p.Ala422Val) c.1340C>T (p.Ala447Val) c.1112C>T (p.Ala371Val) | gnomAD v4 |
| 7 | g.107919045T>A | CA457109798 | DLD | c.1410T>A (p.Ala470=) c.*1084T>A (n.*1084T>A) c.1266T>A (p.Ala422=) c.1341T>A (p.Ala447=) c.1113T>A (p.Ala371=) | |
| 7 | g.107919045T>C | CA457109799 | DLD | c.1410T>C (p.Ala470=) c.*1084T>C (n.*1084T>C) c.1266T>C (p.Ala422=) c.1341T>C (p.Ala447=) c.1113T>C (p.Ala371=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919045T>G | CA457109800 | DLD | c.1410T>G (p.Ala470=) c.*1084T>G (n.*1084T>G) c.1266T>G (p.Ala422=) c.1341T>G (p.Ala447=) c.1113T>G (p.Ala371=) | |
| 7 | g.107919045T= | CA1732860725 | DLD | c.1410T= (p.Ala470=) c.*1084T= (n.*1084T=) c.1266T= (p.Ala422=) c.1341T= (p.Ala447=) c.1113T= (p.Ala371=) | |
| 7 | g.107919046T>A | CA368859450 | DLD | c.1411T>A (p.Leu471Met) c.*1085T>A (n.*1085T>A) c.1267T>A (p.Leu423Met) c.1342T>A (p.Leu448Met) c.1114T>A (p.Leu372Met) | |
| 7 | g.107919046T>C | CA457109801 | DLD | c.1411T>C (p.Leu471=) c.*1085T>C (n.*1085T>C) c.1267T>C (p.Leu423=) c.1342T>C (p.Leu448=) c.1114T>C (p.Leu372=) | dbSNP |
| 7 | g.107919046T>G | CA368859451 | DLD | c.1411T>G (p.Leu471Val) c.*1085T>G (n.*1085T>G) c.1267T>G (p.Leu423Val) c.1342T>G (p.Leu448Val) c.1114T>G (p.Leu372Val) | |
| 7 | g.107919046_107919053delinsTTGGAATA | CA1732860726 | DLD | c.1411_1418delinsTTGGAATA (p.Leu471=) c.*1085_*1092delinsTTGGAATA (n.*1085_*1092delinsTTGGAATA) c.1267_1274delinsTTGGAATA (p.Leu423=) c.1342_1349delinsTTGGAATA (p.Leu448=) c.1114_1121delinsTTGGAATA (p.Leu372=) | |
| 7 | g.107919047T>A | CA368859452 | DLD | c.1412T>A (p.Leu471Ter) c.*1086T>A (n.*1086T>A) c.1268T>A (p.Leu423Ter) c.1343T>A (p.Leu448Ter) c.1115T>A (p.Leu372Ter) | |
| 7 | g.107919047T>C | CA368859453 | DLD | c.1412T>C (p.Leu471Ser) c.*1086T>C (n.*1086T>C) c.1268T>C (p.Leu423Ser) c.1343T>C (p.Leu448Ser) c.1115T>C (p.Leu372Ser) | |
| 7 | g.107919047T>G | CA368859454 | DLD | c.1412T>G (p.Leu471Trp) c.*1086T>G (n.*1086T>G) c.1268T>G (p.Leu423Trp) c.1343T>G (p.Leu448Trp) c.1115T>G (p.Leu372Trp) | gnomAD v4 |
| 7 | g.107919051_107919057del | CA831210899 | DLD | c.1416_1422del (p.Tyr473HisfsTer6) c.*1090_*1096del (n.*1090_*1096del) c.1272_1278del (p.Tyr425HisfsTer6) c.1347_1353del (p.Tyr450HisfsTer6) c.1119_1125del (p.Tyr374HisfsTer6) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107919048G>A | CA457109802 | DLD | c.1413G>A (p.Leu471=) c.*1087G>A (n.*1087G>A) c.1269G>A (p.Leu423=) c.1344G>A (p.Leu448=) c.1116G>A (p.Leu372=) | gnomAD v4 COSMIC COSMIC |
| 7 | g.107919048G>C | CA368859455 | DLD | c.1413G>C (p.Leu471Phe) c.*1087G>C (n.*1087G>C) c.1269G>C (p.Leu423Phe) c.1344G>C (p.Leu448Phe) c.1116G>C (p.Leu372Phe) | |
| 7 | g.107919048G>T | CA368859456 | DLD | c.1413G>T (p.Leu471Phe) c.*1087G>T (n.*1087G>T) c.1269G>T (p.Leu423Phe) c.1344G>T (p.Leu448Phe) c.1116G>T (p.Leu372Phe) | |
| 7 | g.107919049G>A | CA368859457 | DLD | c.1414G>A (p.Glu472Lys) c.*1088G>A (n.*1088G>A) c.1270G>A (p.Glu424Lys) c.1345G>A (p.Glu449Lys) c.1117G>A (p.Glu373Lys) | |
| 7 | g.107919049G>C | CA368859458 | DLD | c.1414G>C (p.Glu472Gln) c.*1088G>C (n.*1088G>C) c.1270G>C (p.Glu424Gln) c.1345G>C (p.Glu449Gln) c.1117G>C (p.Glu373Gln) | |
| 7 | g.107919049G>T | CA368859459 | DLD | c.1414G>T (p.Glu472Ter) c.*1088G>T (n.*1088G>T) c.1270G>T (p.Glu424Ter) c.1345G>T (p.Glu449Ter) c.1117G>T (p.Glu373Ter) | |
| 7 | g.107919050A>C | CA368859460 | DLD | c.1415A>C (p.Glu472Ala) c.*1089A>C (n.*1089A>C) c.1271A>C (p.Glu424Ala) c.1346A>C (p.Glu449Ala) c.1118A>C (p.Glu373Ala) | |
| 7 | g.107919050A>G | CA368859461 | DLD | c.1415A>G (p.Glu472Gly) c.*1089A>G (n.*1089A>G) c.1271A>G (p.Glu424Gly) c.1346A>G (p.Glu449Gly) c.1118A>G (p.Glu373Gly) | |
| 7 | g.107919050A>T | CA368859462 | DLD | c.1415A>T (p.Glu472Val) c.*1089A>T (n.*1089A>T) c.1271A>T (p.Glu424Val) c.1346A>T (p.Glu449Val) c.1118A>T (p.Glu373Val) | |
| 7 | g.107919051A>C | CA368859463 | DLD | c.1416A>C (p.Glu472Asp) c.*1090A>C (n.*1090A>C) c.1272A>C (p.Glu424Asp) c.1347A>C (p.Glu449Asp) c.1119A>C (p.Glu373Asp) | |
| 7 | g.107919051A>G | CA457109803 | DLD | c.1416A>G (p.Glu472=) c.*1090A>G (n.*1090A>G) c.1272A>G (p.Glu424=) c.1347A>G (p.Glu449=) c.1119A>G (p.Glu373=) | ClinVar |
| 7 | g.107919051A>T | CA368859464 | DLD | c.1416A>T (p.Glu472Asp) c.*1090A>T (n.*1090A>T) c.1272A>T (p.Glu424Asp) c.1347A>T (p.Glu449Asp) c.1119A>T (p.Glu373Asp) | |
| 7 | g.107919052T>A | CA368859465 | DLD | c.1417T>A (p.Tyr473Asn) c.*1091T>A (n.*1091T>A) c.1273T>A (p.Tyr425Asn) c.1348T>A (p.Tyr450Asn) c.1120T>A (p.Tyr374Asn) | |
| 7 | g.107919052T>C | CA368859466 | DLD | c.1417T>C (p.Tyr473His) c.*1091T>C (n.*1091T>C) c.1273T>C (p.Tyr425His) c.1348T>C (p.Tyr450His) c.1120T>C (p.Tyr374His) | |
| 7 | g.107919052T>G | CA4434703 | DLD | c.1417T>G (p.Tyr473Asp) c.*1091T>G (n.*1091T>G) c.1273T>G (p.Tyr425Asp) c.1348T>G (p.Tyr450Asp) c.1120T>G (p.Tyr374Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919052T= | CA1732860727 | DLD | c.1417T= (p.Tyr473=) c.*1091T= (n.*1091T=) c.1273T= (p.Tyr425=) c.1348T= (p.Tyr450=) c.1120T= (p.Tyr374=) | |
| 7 | g.107919053A= | CA1732860728 | DLD | c.1418A= (p.Tyr473=) c.*1092A= (n.*1092A=) c.1274A= (p.Tyr425=) c.1349A= (p.Tyr450=) c.1121A= (p.Tyr374=) | |
| 7 | g.107919053A>C | CA368859467 | DLD | c.1418A>C (p.Tyr473Ser) c.*1092A>C (n.*1092A>C) c.1274A>C (p.Tyr425Ser) c.1349A>C (p.Tyr450Ser) c.1121A>C (p.Tyr374Ser) | |
| 7 | g.107919053A>G | CA368859468 | DLD | c.1418A>G (p.Tyr473Cys) c.*1092A>G (n.*1092A>G) c.1274A>G (p.Tyr425Cys) c.1349A>G (p.Tyr450Cys) c.1121A>G (p.Tyr374Cys) | dbSNP gnomAD v4 |
| 7 | g.107919053A>T | CA368859469 | DLD | c.1418A>T (p.Tyr473Phe) c.*1092A>T (n.*1092A>T) c.1274A>T (p.Tyr425Phe) c.1349A>T (p.Tyr450Phe) c.1121A>T (p.Tyr374Phe) | |
| 7 | g.107919054T>A | CA368859470 | DLD | c.1419T>A (p.Tyr473Ter) c.*1093T>A (n.*1093T>A) c.1275T>A (p.Tyr425Ter) c.1350T>A (p.Tyr450Ter) c.1122T>A (p.Tyr374Ter) | |
| 7 | g.107919054T>C | CA457109804 | DLD | c.1419T>C (p.Tyr473=) c.*1093T>C (n.*1093T>C) c.1275T>C (p.Tyr425=) c.1350T>C (p.Tyr450=) c.1122T>C (p.Tyr374=) | gnomAD v4 |
| 7 | g.107919054T>G | CA368859471 | DLD | c.1419T>G (p.Tyr473Ter) c.*1093T>G (n.*1093T>G) c.1275T>G (p.Tyr425Ter) c.1350T>G (p.Tyr450Ter) c.1122T>G (p.Tyr374Ter) | dbSNP |
| 7 | g.107919054T= | CA1732860730 | DLD | c.1419T= (p.Tyr473=) c.*1093T= (n.*1093T=) c.1275T= (p.Tyr425=) c.1350T= (p.Tyr450=) c.1122T= (p.Tyr374=) | |
| 7 | g.107919054_107919055del | CA913111802 | DLD | c.1419_1420del (p.Tyr473Ter) c.*1093_*1094del (n.*1093_*1094del) c.1275_1276del (p.Tyr425Ter) c.1350_1351del (p.Tyr450Ter) c.1122_1123del (p.Tyr374Ter) | |
| 7 | g.107919054_107919055delinsTG | CA1732860729 | DLD | c.1419_1420delinsTG (p.Tyr473=) c.*1093_*1094delinsTG (n.*1093_*1094delinsTG) c.1275_1276delinsTG (p.Tyr425=) c.1350_1351delinsTG (p.Tyr450=) c.1122_1123delinsTG (p.Tyr374=) | |
| 7 | g.107919055G>A | CA368859472 | DLD | c.1420G>A (p.Gly474Arg) c.*1094G>A (n.*1094G>A) c.1276G>A (p.Gly426Arg) c.1351G>A (p.Gly451Arg) c.1123G>A (p.Gly375Arg) | |
| 7 | g.107919055G>C | CA368859473 | DLD | c.1420G>C (p.Gly474Arg) c.*1094G>C (n.*1094G>C) c.1276G>C (p.Gly426Arg) c.1351G>C (p.Gly451Arg) c.1123G>C (p.Gly375Arg) | |
| 7 | g.107919055G>T | CA368859474 | DLD | c.1420G>T (p.Gly474Ter) c.*1094G>T (n.*1094G>T) c.1276G>T (p.Gly426Ter) c.1351G>T (p.Gly451Ter) c.1123G>T (p.Gly375Ter) | |
| 7 | g.107919056del | CA658821776 | DLD | c.1421del (p.Gly474GlufsTer7) c.*1095del (n.*1095del) c.1277del (p.Gly426GlufsTer7) c.1352del (p.Gly451GlufsTer7) c.1124del (p.Gly375GlufsTer7) | ClinVar dbSNP |
| 7 | g.107919056G>A | CA368859477 | DLD | c.1421G>A (p.Gly474Glu) c.*1095G>A (n.*1095G>A) c.1277G>A (p.Gly426Glu) c.1352G>A (p.Gly451Glu) c.1124G>A (p.Gly375Glu) | |
| 7 | g.107919056G>C | CA368859476 | DLD | c.1421G>C (p.Gly474Ala) c.*1095G>C (n.*1095G>C) c.1277G>C (p.Gly426Ala) c.1352G>C (p.Gly451Ala) c.1124G>C (p.Gly375Ala) | |
| 7 | g.107919056G>T | CA368859475 | DLD | c.1421G>T (p.Gly474Val) c.*1095G>T (n.*1095G>T) c.1277G>T (p.Gly426Val) c.1352G>T (p.Gly451Val) c.1124G>T (p.Gly375Val) | |
| 7 | g.107919057A= | CA1732860731 | DLD | c.1422A= (p.Gly474=) c.*1096A= (n.*1096A=) c.1278A= (p.Gly426=) c.1353A= (p.Gly451=) c.1125A= (p.Gly375=) | |
| 7 | g.107919057A>C | CA290613 | DLD | c.1422A>C (p.Gly474=) c.*1096A>C (n.*1096A>C) c.1278A>C (p.Gly426=) c.1353A>C (p.Gly451=) c.1125A>C (p.Gly375=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919057A>G | CA457109805 | DLD | c.1422A>G (p.Gly474=) c.*1096A>G (n.*1096A>G) c.1278A>G (p.Gly426=) c.1353A>G (p.Gly451=) c.1125A>G (p.Gly375=) | ClinVar |
| 7 | g.107919057A>T | CA457109806 | DLD | c.1422A>T (p.Gly474=) c.*1096A>T (n.*1096A>T) c.1278A>T (p.Gly426=) c.1353A>T (p.Gly451=) c.1125A>T (p.Gly375=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919058G>A | CA368859480 | DLD | c.1423G>A (p.Ala475Thr) c.*1097G>A (n.*1097G>A) c.1279G>A (p.Ala427Thr) c.1354G>A (p.Ala452Thr) c.1126G>A (p.Ala376Thr) | COSMIC COSMIC |
| 7 | g.107919058G>C | CA368859478 | DLD | c.1423G>C (p.Ala475Pro) c.*1097G>C (n.*1097G>C) c.1279G>C (p.Ala427Pro) c.1354G>C (p.Ala452Pro) c.1126G>C (p.Ala376Pro) | |
| 7 | g.107919058G>T | CA368859479 | DLD | c.1423G>T (p.Ala475Ser) c.*1097G>T (n.*1097G>T) c.1279G>T (p.Ala427Ser) c.1354G>T (p.Ala452Ser) c.1126G>T (p.Ala376Ser) | |
| 7 | g.107919059C>A | CA368859481 | DLD | c.1424C>A (p.Ala475Glu) c.*1098C>A (n.*1098C>A) c.1280C>A (p.Ala427Glu) c.1355C>A (p.Ala452Glu) c.1127C>A (p.Ala376Glu) | |
| 7 | g.107919059C= | CA1732860732 | DLD | c.1424C= (p.Ala475=) c.*1098C= (n.*1098C=) c.1280C= (p.Ala427=) c.1355C= (p.Ala452=) c.1127C= (p.Ala376=) | |
| 7 | g.107919059C>G | CA368859482 | DLD | c.1424C>G (p.Ala475Gly) c.*1098C>G (n.*1098C>G) c.1280C>G (p.Ala427Gly) c.1355C>G (p.Ala452Gly) c.1127C>G (p.Ala376Gly) | |
| 7 | g.107919059C>T | CA368859483 | DLD | c.1424C>T (p.Ala475Val) c.*1098C>T (n.*1098C>T) c.1280C>T (p.Ala427Val) c.1355C>T (p.Ala452Val) c.1127C>T (p.Ala376Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919060A= | CA1732860733 | DLD | c.1425A= (p.Ala475=) c.*1099A= (n.*1099A=) c.1281A= (p.Ala427=) c.1356A= (p.Ala452=) c.1128A= (p.Ala376=) | |
| 7 | g.107919060A>C | CA457109810 | DLD | c.1425A>C (p.Ala475=) c.*1099A>C (n.*1099A>C) c.1281A>C (p.Ala427=) c.1356A>C (p.Ala452=) c.1128A>C (p.Ala376=) | |
| 7 | g.107919060A>G | CA457109808 | DLD | c.1425A>G (p.Ala475=) c.*1099A>G (n.*1099A>G) c.1281A>G (p.Ala427=) c.1356A>G (p.Ala452=) c.1128A>G (p.Ala376=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919060A>T | CA457109807 | DLD | c.1425A>T (p.Ala475=) c.*1099A>T (n.*1099A>T) c.1281A>T (p.Ala427=) c.1356A>T (p.Ala452=) c.1128A>T (p.Ala376=) | |
| 7 | g.107919061T>A | CA368859486 | DLD | c.1426T>A (p.Ser476Thr) c.*1100T>A (n.*1100T>A) c.1282T>A (p.Ser428Thr) c.1357T>A (p.Ser453Thr) c.1129T>A (p.Ser377Thr) | |
| 7 | g.107919061T>C | CA368859485 | DLD | c.1426T>C (p.Ser476Pro) c.*1100T>C (n.*1100T>C) c.1282T>C (p.Ser428Pro) c.1357T>C (p.Ser453Pro) c.1129T>C (p.Ser377Pro) | |
| 7 | g.107919061T>G | CA368859484 | DLD | c.1426T>G (p.Ser476Ala) c.*1100T>G (n.*1100T>G) c.1282T>G (p.Ser428Ala) c.1357T>G (p.Ser453Ala) c.1129T>G (p.Ser377Ala) | |
| 7 | g.107919062C>A | CA4434705 | DLD | c.1427C>A (p.Ser476Tyr) c.*1101C>A (n.*1101C>A) c.1283C>A (p.Ser428Tyr) c.1358C>A (p.Ser453Tyr) c.1130C>A (p.Ser377Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919062C= | CA1732860734 | DLD | c.1427C= (p.Ser476=) c.*1101C= (n.*1101C=) c.1283C= (p.Ser428=) c.1358C= (p.Ser453=) c.1130C= (p.Ser377=) | |
| 7 | g.107919062C>G | CA4434704 | DLD | c.1427C>G (p.Ser476Cys) c.*1101C>G (n.*1101C>G) c.1283C>G (p.Ser428Cys) c.1358C>G (p.Ser453Cys) c.1130C>G (p.Ser377Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919062C>T | CA368859487 | DLD | c.1427C>T (p.Ser476Phe) c.*1101C>T (n.*1101C>T) c.1283C>T (p.Ser428Phe) c.1358C>T (p.Ser453Phe) c.1130C>T (p.Ser377Phe) | |
| 7 | g.107919063C>A | CA457109811 | DLD | c.1428C>A (p.Ser476=) c.*1102C>A (n.*1102C>A) c.1284C>A (p.Ser428=) c.1359C>A (p.Ser453=) c.1131C>A (p.Ser377=) | |
| 7 | g.107919063C= | CA1732860736 | DLD | c.1428C= (p.Ser476=) c.*1102C= (n.*1102C=) c.1284C= (p.Ser428=) c.1359C= (p.Ser453=) c.1131C= (p.Ser377=) | |
| 7 | g.107919063C>G | CA457109812 | DLD | c.1428C>G (p.Ser476=) c.*1102C>G (n.*1102C>G) c.1284C>G (p.Ser428=) c.1359C>G (p.Ser453=) c.1131C>G (p.Ser377=) | |
| 7 | g.107919063C>T | CA457109813 | DLD | c.1428C>T (p.Ser476=) c.*1102C>T (n.*1102C>T) c.1284C>T (p.Ser428=) c.1359C>T (p.Ser453=) c.1131C>T (p.Ser377=) | ClinVar dbSNP |
| 7 | g.107919063_107919067del | CA913111803 | DLD | c.1428_1432del (p.Cys477ArgfsTer4) c.*1102_*1106del (n.*1102_*1106del) c.1284_1288del (p.Cys429ArgfsTer4) c.1359_1363del (p.Cys454ArgfsTer4) c.1131_1135del (p.Cys378ArgfsTer4) | |
| 7 | g.107919063_107919067delinsCTGTG | CA1732860735 | DLD | c.1428_1432delinsCTGTG (p.Ser476=) c.*1102_*1106delinsCTGTG (n.*1102_*1106delinsCTGTG) c.1284_1288delinsCTGTG (p.Ser428=) c.1359_1363delinsCTGTG (p.Ser453=) c.1131_1135delinsCTGTG (p.Ser377=) | |
| 7 | g.107919064T>A | CA368859488 | DLD | c.1429T>A (p.Cys477Ser) c.*1103T>A (n.*1103T>A) c.1285T>A (p.Cys429Ser) c.1360T>A (p.Cys454Ser) c.1132T>A (p.Cys378Ser) | |
| 7 | g.107919064T>C | CA368859489 | DLD | c.1429T>C (p.Cys477Arg) c.*1103T>C (n.*1103T>C) c.1285T>C (p.Cys429Arg) c.1360T>C (p.Cys454Arg) c.1132T>C (p.Cys378Arg) | |
| 7 | g.107919064T>G | CA368859490 | DLD | c.1429T>G (p.Cys477Gly) c.*1103T>G (n.*1103T>G) c.1285T>G (p.Cys429Gly) c.1360T>G (p.Cys454Gly) c.1132T>G (p.Cys378Gly) | |
| 7 | g.107919064_107919067del | CA658821777 | DLD | c.1429_1432del (p.Cys477LysfsTer3) c.*1103_*1106del (n.*1103_*1106del) c.1285_1288del (p.Cys429LysfsTer3) c.1360_1363del (p.Cys454LysfsTer3) c.1132_1135del (p.Cys378LysfsTer3) | ClinVar dbSNP |
| 7 | g.107919066_107919067del | CA2559541351 | DLD | c.1431_1432del (p.Cys477Ter) c.*1105_*1106del (n.*1105_*1106del) c.1287_1288del (p.Cys429Ter) c.1362_1363del (p.Cys454Ter) c.1134_1135del (p.Cys378Ter) | |
| 7 | g.107919065G>A | CA368859493 | DLD | c.1430G>A (p.Cys477Tyr) c.*1104G>A (n.*1104G>A) c.1286G>A (p.Cys429Tyr) c.1361G>A (p.Cys454Tyr) c.1133G>A (p.Cys378Tyr) | dbSNP gnomAD v4 |
| 7 | g.107919065G>C | CA368859491 | DLD | c.1430G>C (p.Cys477Ser) c.*1104G>C (n.*1104G>C) c.1286G>C (p.Cys429Ser) c.1361G>C (p.Cys454Ser) c.1133G>C (p.Cys378Ser) | |
| 7 | g.107919065G= | CA1732860737 | DLD | c.1430G= (p.Cys477=) c.*1104G= (n.*1104G=) c.1286G= (p.Cys429=) c.1361G= (p.Cys454=) c.1133G= (p.Cys378=) | |
| 7 | g.107919065G>T | CA368859492 | DLD | c.1430G>T (p.Cys477Phe) c.*1104G>T (n.*1104G>T) c.1286G>T (p.Cys429Phe) c.1361G>T (p.Cys454Phe) c.1133G>T (p.Cys378Phe) | |
| 7 | g.107919066T>A | CA368859494 | DLD | c.1431T>A (p.Cys477Ter) c.*1105T>A (n.*1105T>A) c.1287T>A (p.Cys429Ter) c.1362T>A (p.Cys454Ter) c.1134T>A (p.Cys378Ter) | |
| 7 | g.107919066T>C | CA457109814 | DLD | c.1431T>C (p.Cys477=) c.*1105T>C (n.*1105T>C) c.1287T>C (p.Cys429=) c.1362T>C (p.Cys454=) c.1134T>C (p.Cys378=) | |
| 7 | g.107919066T>G | CA368859495 | DLD | c.1431T>G (p.Cys477Trp) c.*1105T>G (n.*1105T>G) c.1287T>G (p.Cys429Trp) c.1362T>G (p.Cys454Trp) c.1134T>G (p.Cys378Trp) | |
| 7 | g.107919067G>A | CA368859496 | DLD | c.1432G>A (p.Glu478Lys) c.*1106G>A (n.*1106G>A) c.1288G>A (p.Glu430Lys) c.1363G>A (p.Glu455Lys) c.1135G>A (p.Glu379Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107919067G>C | CA368859497 | DLD | c.1432G>C (p.Glu478Gln) c.*1106G>C (n.*1106G>C) c.1288G>C (p.Glu430Gln) c.1363G>C (p.Glu455Gln) c.1135G>C (p.Glu379Gln) | |
| 7 | g.107919067G= | CA1732860738 | DLD | c.1432G= (p.Glu478=) c.*1106G= (n.*1106G=) c.1288G= (p.Glu430=) c.1363G= (p.Glu455=) c.1135G= (p.Glu379=) | |
| 7 | g.107919067G>T | CA368859498 | DLD | c.1432G>T (p.Glu478Ter) c.*1106G>T (n.*1106G>T) c.1288G>T (p.Glu430Ter) c.1363G>T (p.Glu455Ter) c.1135G>T (p.Glu379Ter) | |
| 7 | g.107919068A= | CA1732860739 | DLD | c.1433A= (p.Glu478=) c.*1107A= (n.*1107A=) c.1289A= (p.Glu430=) c.1364A= (p.Glu455=) c.1136A= (p.Glu379=) | |
| 7 | g.107919068A>C | CA368859499 | DLD | c.1433A>C (p.Glu478Ala) c.*1107A>C (n.*1107A>C) c.1289A>C (p.Glu430Ala) c.1364A>C (p.Glu455Ala) c.1136A>C (p.Glu379Ala) | |
| 7 | g.107919068A>G | CA4434706 | DLD | c.1433A>G (p.Glu478Gly) c.*1107A>G (n.*1107A>G) c.1289A>G (p.Glu430Gly) c.1364A>G (p.Glu455Gly) c.1136A>G (p.Glu379Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919068A>T | CA368859500 | DLD | c.1433A>T (p.Glu478Val) c.*1107A>T (n.*1107A>T) c.1289A>T (p.Glu430Val) c.1364A>T (p.Glu455Val) c.1136A>T (p.Glu379Val) | |
| 7 | g.107919069A>C | CA368859501 | DLD | c.1434A>C (p.Glu478Asp) c.*1108A>C (n.*1108A>C) c.1290A>C (p.Glu430Asp) c.1365A>C (p.Glu455Asp) c.1137A>C (p.Glu379Asp) | |
| 7 | g.107919069A>G | CA457109815 | DLD | c.1434A>G (p.Glu478=) c.*1108A>G (n.*1108A>G) c.1290A>G (p.Glu430=) c.1365A>G (p.Glu455=) c.1137A>G (p.Glu379=) | |
| 7 | g.107919069A>T | CA368859502 | DLD | c.1434A>T (p.Glu478Asp) c.*1108A>T (n.*1108A>T) c.1290A>T (p.Glu430Asp) c.1365A>T (p.Glu455Asp) c.1137A>T (p.Glu379Asp) | |
| 7 | g.107919070G>A | CA368859503 | DLD | c.1435G>A (p.Asp479Asn) c.*1109G>A (n.*1109G>A) c.1291G>A (p.Asp431Asn) c.1366G>A (p.Asp456Asn) c.1138G>A (p.Asp380Asn) | |
| 7 | g.107919070G>C | CA368859504 | DLD | c.1435G>C (p.Asp479His) c.*1109G>C (n.*1109G>C) c.1291G>C (p.Asp431His) c.1366G>C (p.Asp456His) c.1138G>C (p.Asp380His) | |
| 7 | g.107919070G>T | CA368859505 | DLD | c.1435G>T (p.Asp479Tyr) c.*1109G>T (n.*1109G>T) c.1291G>T (p.Asp431Tyr) c.1366G>T (p.Asp456Tyr) c.1138G>T (p.Asp380Tyr) | |
| 7 | g.107919071A= | CA1732860740 | DLD | c.1436A= (p.Asp479=) c.*1110A= (n.*1110A=) c.1292A= (p.Asp431=) c.1367A= (p.Asp456=) c.1139A= (p.Asp380=) | |
| 7 | g.107919071A>C | CA368859507 | DLD | c.1436A>C (p.Asp479Ala) c.*1110A>C (n.*1110A>C) c.1292A>C (p.Asp431Ala) c.1367A>C (p.Asp456Ala) c.1139A>C (p.Asp380Ala) | |
| 7 | g.107919071A>G | CA368859506 | DLD | c.1436A>G (p.Asp479Gly) c.*1110A>G (n.*1110A>G) c.1292A>G (p.Asp431Gly) c.1367A>G (p.Asp456Gly) c.1139A>G (p.Asp380Gly) | gnomAD v4 |
| 7 | g.107919071A>T | CA261256 | DLD | c.1436A>T (p.Asp479Val) c.*1110A>T (n.*1110A>T) c.1292A>T (p.Asp431Val) c.1367A>T (p.Asp456Val) c.1139A>T (p.Asp380Val) | ClinVar dbSNP |
| 7 | g.107919072T>A | CA368859508 | DLD | c.1437T>A (p.Asp479Glu) c.*1111T>A (n.*1111T>A) c.1293T>A (p.Asp431Glu) c.1368T>A (p.Asp456Glu) c.1140T>A (p.Asp380Glu) | |
| 7 | g.107919072T>C | CA457109816 | DLD | c.1437T>C (p.Asp479=) c.*1111T>C (n.*1111T>C) c.1293T>C (p.Asp431=) c.1368T>C (p.Asp456=) c.1140T>C (p.Asp380=) | ClinVar gnomAD v4 |
| 7 | g.107919072T>G | CA368859509 | DLD | c.1437T>G (p.Asp479Glu) c.*1111T>G (n.*1111T>G) c.1293T>G (p.Asp431Glu) c.1368T>G (p.Asp456Glu) c.1140T>G (p.Asp380Glu) | |
| 7 | g.107919073A= | CA1732860741 | DLD | c.1438A= (p.Ile480=) c.*1112A= (n.*1112A=) c.1294A= (p.Ile432=) c.1369A= (p.Ile457=) c.1141A= (p.Ile381=) | |
| 7 | g.107919073A>C | CA368859510 | DLD | c.1438A>C (p.Ile480Leu) c.*1112A>C (n.*1112A>C) c.1294A>C (p.Ile432Leu) c.1369A>C (p.Ile457Leu) c.1141A>C (p.Ile381Leu) | |
| 7 | g.107919073A>G | CA4434707 | DLD | c.1438A>G (p.Ile480Val) c.*1112A>G (n.*1112A>G) c.1294A>G (p.Ile432Val) c.1369A>G (p.Ile457Val) c.1141A>G (p.Ile381Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919073A>T | CA368859511 | DLD | c.1438A>T (p.Ile480Leu) c.*1112A>T (n.*1112A>T) c.1294A>T (p.Ile432Leu) c.1369A>T (p.Ile457Leu) c.1141A>T (p.Ile381Leu) | gnomAD v4 |
| 7 | g.107919074T>A | CA368859512 | DLD | c.1439T>A (p.Ile480Lys) c.*1113T>A (n.*1113T>A) c.1295T>A (p.Ile432Lys) c.1370T>A (p.Ile457Lys) c.1142T>A (p.Ile381Lys) | |
| 7 | g.107919074T>C | CA4434708 | DLD | c.1439T>C (p.Ile480Thr) c.*1113T>C (n.*1113T>C) c.1295T>C (p.Ile432Thr) c.1370T>C (p.Ile457Thr) c.1142T>C (p.Ile381Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.107919074T>G | CA368859513 | DLD | c.1439T>G (p.Ile480Arg) c.*1113T>G (n.*1113T>G) c.1295T>G (p.Ile432Arg) c.1370T>G (p.Ile457Arg) c.1142T>G (p.Ile381Arg) | |
| 7 | g.107919074T= | CA1732860742 | DLD | c.1439T= (p.Ile480=) c.*1113T= (n.*1113T=) c.1295T= (p.Ile432=) c.1370T= (p.Ile457=) c.1142T= (p.Ile381=) | |
| 7 | g.107919075A= | CA1732860743 | DLD | c.1440A= (p.Ile480=) c.*1114A= (n.*1114A=) c.1296A= (p.Ile432=) c.1371A= (p.Ile457=) c.1143A= (p.Ile381=) | |
| 7 | g.107919075A>C | CA457109818 | DLD | c.1440A>C (p.Ile480=) c.*1114A>C (n.*1114A>C) c.1296A>C (p.Ile432=) c.1371A>C (p.Ile457=) c.1143A>C (p.Ile381=) | |
| 7 | g.107919075A>G | CA4434709 | DLD | c.1440A>G (p.Ile480Met) c.*1114A>G (n.*1114A>G) c.1296A>G (p.Ile432Met) c.1371A>G (p.Ile457Met) c.1143A>G (p.Ile381Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919075A>T | CA457109817 | DLD | c.1440A>T (p.Ile480=) c.*1114A>T (n.*1114A>T) c.1296A>T (p.Ile432=) c.1371A>T (p.Ile457=) c.1143A>T (p.Ile381=) | gnomAD v4 |
| 7 | g.107919076G>A | CA368859514 | DLD | c.1441G>A (p.Ala481Thr) c.*1115G>A (n.*1115G>A) c.1297G>A (p.Ala433Thr) c.1372G>A (p.Ala458Thr) c.1144G>A (p.Ala382Thr) | gnomAD v4 |
| 7 | g.107919076G>C | CA368859515 | DLD | c.1441G>C (p.Ala481Pro) c.*1115G>C (n.*1115G>C) c.1297G>C (p.Ala433Pro) c.1372G>C (p.Ala458Pro) c.1144G>C (p.Ala382Pro) | |
| 7 | g.107919076G>T | CA368859516 | DLD | c.1441G>T (p.Ala481Ser) c.*1115G>T (n.*1115G>T) c.1297G>T (p.Ala433Ser) c.1372G>T (p.Ala458Ser) c.1144G>T (p.Ala382Ser) | |
| 7 | g.107919077C>A | CA368859517 | DLD | c.1442C>A (p.Ala481Asp) c.*1116C>A (n.*1116C>A) c.1298C>A (p.Ala433Asp) c.1373C>A (p.Ala458Asp) c.1145C>A (p.Ala382Asp) | gnomAD v4 |
| 7 | g.107919077C>G | CA368859518 | DLD | c.1442C>G (p.Ala481Gly) c.*1116C>G (n.*1116C>G) c.1298C>G (p.Ala433Gly) c.1373C>G (p.Ala458Gly) c.1145C>G (p.Ala382Gly) | |
| 7 | g.107919077C>T | CA368859519 | DLD | c.1442C>T (p.Ala481Val) c.*1116C>T (n.*1116C>T) c.1298C>T (p.Ala433Val) c.1373C>T (p.Ala458Val) c.1145C>T (p.Ala382Val) | |
| 7 | g.107919078T>A | CA457109819 | DLD | c.1443T>A (p.Ala481=) c.*1117T>A (n.*1117T>A) c.1299T>A (p.Ala433=) c.1374T>A (p.Ala458=) c.1146T>A (p.Ala382=) | |
| 7 | g.107919078T>C | CA457109820 | DLD | c.1443T>C (p.Ala481=) c.*1117T>C (n.*1117T>C) c.1299T>C (p.Ala433=) c.1374T>C (p.Ala458=) c.1146T>C (p.Ala382=) | |
| 7 | g.107919078T>G | CA4434710 | DLD | c.1443T>G (p.Ala481=) c.*1117T>G (n.*1117T>G) c.1299T>G (p.Ala433=) c.1374T>G (p.Ala458=) c.1146T>G (p.Ala382=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919078T= | CA1732860745 | DLD | c.1443T= (p.Ala481=) c.*1117T= (n.*1117T=) c.1299T= (p.Ala433=) c.1374T= (p.Ala458=) c.1146T= (p.Ala382=) | |
| 7 | g.107919078_107919080del | CA913111804 | DLD | c.1443_1445del (p.Arg482del) c.*1117_*1119del (n.*1117_*1119del) c.1299_1301del (p.Arg434del) c.1374_1376del (p.Arg459del) c.1146_1148del (p.Arg383del) | |
| 7 | g.107919078_107919080delinsTAG | CA1732860744 | DLD | c.1443_1445delinsTAG (p.Ala481=) c.*1117_*1119delinsTAG (n.*1117_*1119delinsTAG) c.1299_1301delinsTAG (p.Ala433=) c.1374_1376delinsTAG (p.Ala458=) c.1146_1148delinsTAG (p.Ala382=) | |
| 7 | g.107919079A= | CA1732860746 | DLD | c.1444A= (p.Arg482=) c.*1118A= (n.*1118A=) c.1300A= (p.Arg434=) c.1375A= (p.Arg459=) c.1147A= (p.Arg383=) | |
| 7 | g.107919079A>C | CA457109821 | DLD | c.1444A>C (p.Arg482=) c.*1118A>C (n.*1118A>C) c.1300A>C (p.Arg434=) c.1375A>C (p.Arg459=) c.1147A>C (p.Arg383=) | |
| 7 | g.107919079A>G | CA261258 | DLD | c.1444A>G (p.Arg482Gly) c.*1118A>G (n.*1118A>G) c.1300A>G (p.Arg434Gly) c.1375A>G (p.Arg459Gly) c.1147A>G (p.Arg383Gly) | ClinVar dbSNP |
| 7 | g.107919079A>T | CA368859520 | DLD | c.1444A>T (p.Arg482Ter) c.*1118A>T (n.*1118A>T) c.1300A>T (p.Arg434Ter) c.1375A>T (p.Arg459Ter) c.1147A>T (p.Arg383Ter) | |
| 7 | g.107919081_107919082del | CA658821778 | DLD | c.1446_1447del (p.Arg482SerfsTer13) c.*1120_*1121del (n.*1120_*1121del) c.1302_1303del (p.Arg434SerfsTer13) c.1377_1378del (p.Arg459SerfsTer13) c.1149_1150del (p.Arg383SerfsTer13) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107919080G>A | CA368859521 | DLD | c.1445G>A (p.Arg482Lys) c.*1119G>A (n.*1119G>A) c.1301G>A (p.Arg434Lys) c.1376G>A (p.Arg459Lys) c.1148G>A (p.Arg383Lys) | |
| 7 | g.107919080G>C | CA368859522 | DLD | c.1445G>C (p.Arg482Thr) c.*1119G>C (n.*1119G>C) c.1301G>C (p.Arg434Thr) c.1376G>C (p.Arg459Thr) c.1148G>C (p.Arg383Thr) | |
| 7 | g.107919080G>T | CA368859523 | DLD | c.1445G>T (p.Arg482Ile) c.*1119G>T (n.*1119G>T) c.1301G>T (p.Arg434Ile) c.1376G>T (p.Arg459Ile) c.1148G>T (p.Arg383Ile) | |
| 7 | g.107919081A>C | CA368859524 | DLD | c.1446A>C (p.Arg482Ser) c.*1120A>C (n.*1120A>C) c.1302A>C (p.Arg434Ser) c.1377A>C (p.Arg459Ser) c.1149A>C (p.Arg383Ser) | |
| 7 | g.107919081A>G | CA457109822 | DLD | c.1446A>G (p.Arg482=) c.*1120A>G (n.*1120A>G) c.1302A>G (p.Arg434=) c.1377A>G (p.Arg459=) c.1149A>G (p.Arg383=) | gnomAD v4 |
| 7 | g.107919081A>T | CA368859525 | DLD | c.1446A>T (p.Arg482Ser) c.*1120A>T (n.*1120A>T) c.1302A>T (p.Arg434Ser) c.1377A>T (p.Arg459Ser) c.1149A>T (p.Arg383Ser) | |
| 7 | g.107919082G>A | CA368859526 | DLD | c.1447G>A (p.Val483Ile) c.*1121G>A (n.*1121G>A) c.1303G>A (p.Val435Ile) c.1378G>A (p.Val460Ile) c.1150G>A (p.Val384Ile) | gnomAD v4 |
| 7 | g.107919082G>C | CA368859527 | DLD | c.1447G>C (p.Val483Leu) c.*1121G>C (n.*1121G>C) c.1303G>C (p.Val435Leu) c.1378G>C (p.Val460Leu) c.1150G>C (p.Val384Leu) | |
| 7 | g.107919082G>T | CA368859528 | DLD | c.1447G>T (p.Val483Phe) c.*1121G>T (n.*1121G>T) c.1303G>T (p.Val435Phe) c.1378G>T (p.Val460Phe) c.1150G>T (p.Val384Phe) | |
| 7 | g.107919083T>A | CA368859529 | DLD | c.1448T>A (p.Val483Asp) c.*1122T>A (n.*1122T>A) c.1304T>A (p.Val435Asp) c.1379T>A (p.Val460Asp) c.1151T>A (p.Val384Asp) | |
| 7 | g.107919083T>C | CA368859530 | DLD | c.1448T>C (p.Val483Ala) c.*1122T>C (n.*1122T>C) c.1304T>C (p.Val435Ala) c.1379T>C (p.Val460Ala) c.1151T>C (p.Val384Ala) | |
| 7 | g.107919083T>G | CA368859531 | DLD | c.1448T>G (p.Val483Gly) c.*1122T>G (n.*1122T>G) c.1304T>G (p.Val435Gly) c.1379T>G (p.Val460Gly) c.1151T>G (p.Val384Gly) | |
| 7 | g.107919084C>A | CA457109823 | DLD | c.1449C>A (p.Val483=) c.*1123C>A (n.*1123C>A) c.1305C>A (p.Val435=) c.1380C>A (p.Val460=) c.1152C>A (p.Val384=) | |
| 7 | g.107919084C>G | CA457109824 | DLD | c.1449C>G (p.Val483=) c.*1123C>G (n.*1123C>G) c.1305C>G (p.Val435=) c.1380C>G (p.Val460=) c.1152C>G (p.Val384=) | |
| 7 | g.107919084C>T | CA457109825 | DLD | c.1449C>T (p.Val483=) c.*1123C>T (n.*1123C>T) c.1305C>T (p.Val435=) c.1380C>T (p.Val460=) c.1152C>T (p.Val384=) | |
| 7 | g.107919085T>A | CA368859532 | DLD | c.1450T>A (p.Cys484Ser) c.*1124T>A (n.*1124T>A) c.1306T>A (p.Cys436Ser) c.1381T>A (p.Cys461Ser) c.1153T>A (p.Cys385Ser) | |
| 7 | g.107919085T>C | CA368859534 | DLD | c.1450T>C (p.Cys484Arg) c.*1124T>C (n.*1124T>C) c.1306T>C (p.Cys436Arg) c.1381T>C (p.Cys461Arg) c.1153T>C (p.Cys385Arg) | |
| 7 | g.107919085T>G | CA368859533 | DLD | c.1450T>G (p.Cys484Gly) c.*1124T>G (n.*1124T>G) c.1306T>G (p.Cys436Gly) c.1381T>G (p.Cys461Gly) c.1153T>G (p.Cys385Gly) | |
| 7 | g.107919086_107919087del | CA2684460717 | DLD | c.1451_1452del (p.Cys484SerfsTer11) c.*1125_*1126del (n.*1125_*1126del) c.1307_1308del (p.Cys436SerfsTer11) c.1382_1383del (p.Cys461SerfsTer11) c.1154_1155del (p.Cys385SerfsTer11) | gnomAD v4 |
| 7 | g.107919086G>A | CA368859535 | DLD | c.1451G>A (p.Cys484Tyr) c.*1125G>A (n.*1125G>A) c.1307G>A (p.Cys436Tyr) c.1382G>A (p.Cys461Tyr) c.1154G>A (p.Cys385Tyr) | |
| 7 | g.107919086G>C | CA368859537 | DLD | c.1451G>C (p.Cys484Ser) c.*1125G>C (n.*1125G>C) c.1307G>C (p.Cys436Ser) c.1382G>C (p.Cys461Ser) c.1154G>C (p.Cys385Ser) | |
| 7 | g.107919086G>T | CA368859536 | DLD | c.1451G>T (p.Cys484Phe) c.*1125G>T (n.*1125G>T) c.1307G>T (p.Cys436Phe) c.1382G>T (p.Cys461Phe) c.1154G>T (p.Cys385Phe) | |
| 7 | g.107919087T>A | CA368859538 | DLD | c.1452T>A (p.Cys484Ter) c.*1126T>A (n.*1126T>A) c.1308T>A (p.Cys436Ter) c.1383T>A (p.Cys461Ter) c.1155T>A (p.Cys385Ter) | |
| 7 | g.107919087T>C | CA4434711 | DLD | c.1452T>C (p.Cys484=) c.*1126T>C (n.*1126T>C) c.1308T>C (p.Cys436=) c.1383T>C (p.Cys461=) c.1155T>C (p.Cys385=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919087T>G | CA368859539 | DLD | c.1452T>G (p.Cys484Trp) c.*1126T>G (n.*1126T>G) c.1308T>G (p.Cys436Trp) c.1383T>G (p.Cys461Trp) c.1155T>G (p.Cys385Trp) | |
| 7 | g.107919087T= | CA1732860747 | DLD | c.1452T= (p.Cys484=) c.*1126T= (n.*1126T=) c.1308T= (p.Cys436=) c.1383T= (p.Cys461=) c.1155T= (p.Cys385=) | |
| 7 | g.107919088C>A | CA368859540 | DLD | c.1453C>A (p.His485Asn) c.*1127C>A (n.*1127C>A) c.1309C>A (p.His437Asn) c.1384C>A (p.His462Asn) c.1156C>A (p.His386Asn) | |
| 7 | g.107919088C>G | CA368859541 | DLD | c.1453C>G (p.His485Asp) c.*1127C>G (n.*1127C>G) c.1309C>G (p.His437Asp) c.1384C>G (p.His462Asp) c.1156C>G (p.His386Asp) | |
| 7 | g.107919088C>T | CA368859542 | DLD | c.1453C>T (p.His485Tyr) c.*1127C>T (n.*1127C>T) c.1309C>T (p.His437Tyr) c.1384C>T (p.His462Tyr) c.1156C>T (p.His386Tyr) | |
| 7 | g.107919089A>C | CA368859543 | DLD | c.1454A>C (p.His485Pro) c.*1128A>C (n.*1128A>C) c.1310A>C (p.His437Pro) c.1385A>C (p.His462Pro) c.1157A>C (p.His386Pro) | |
| 7 | g.107919089A>G | CA368859544 | DLD | c.1454A>G (p.His485Arg) c.*1128A>G (n.*1128A>G) c.1310A>G (p.His437Arg) c.1385A>G (p.His462Arg) c.1157A>G (p.His386Arg) | gnomAD v4 |
| 7 | g.107919089A>T | CA368859545 | DLD | c.1454A>T (p.His485Leu) c.*1128A>T (n.*1128A>T) c.1310A>T (p.His437Leu) c.1385A>T (p.His462Leu) c.1157A>T (p.His386Leu) | |
| 7 | g.107919090T>A | CA368859546 | DLD | c.1455T>A (p.His485Gln) c.*1129T>A (n.*1129T>A) c.1311T>A (p.His437Gln) c.1386T>A (p.His462Gln) c.1158T>A (p.His386Gln) | |
| 7 | g.107919090T>C | CA457109827 | DLD | c.1455T>C (p.His485=) c.*1129T>C (n.*1129T>C) c.1311T>C (p.His437=) c.1386T>C (p.His462=) c.1158T>C (p.His386=) | dbSNP |
| 7 | g.107919090T>G | CA368859547 | DLD | c.1455T>G (p.His485Gln) c.*1129T>G (n.*1129T>G) c.1311T>G (p.His437Gln) c.1386T>G (p.His462Gln) c.1158T>G (p.His386Gln) | |
| 7 | g.107919090T= | CA1732860748 | DLD | c.1455T= (p.His485=) c.*1129T= (n.*1129T=) c.1311T= (p.His437=) c.1386T= (p.His462=) c.1158T= (p.His386=) | |
| 7 | g.107919091G>A | CA4434712 | DLD | c.1456G>A (p.Ala486Thr) c.*1130G>A (n.*1130G>A) c.1312G>A (p.Ala438Thr) c.1387G>A (p.Ala463Thr) c.1159G>A (p.Ala387Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919091G>C | CA368859549 | DLD | c.1456G>C (p.Ala486Pro) c.*1130G>C (n.*1130G>C) c.1312G>C (p.Ala438Pro) c.1387G>C (p.Ala463Pro) c.1159G>C (p.Ala387Pro) | |
| 7 | g.107919091G= | CA1732860749 | DLD | c.1456G= (p.Ala486=) c.*1130G= (n.*1130G=) c.1312G= (p.Ala438=) c.1387G= (p.Ala463=) c.1159G= (p.Ala387=) | |
| 7 | g.107919091G>T | CA368859548 | DLD | c.1456G>T (p.Ala486Ser) c.*1130G>T (n.*1130G>T) c.1312G>T (p.Ala438Ser) c.1387G>T (p.Ala463Ser) c.1159G>T (p.Ala387Ser) | |
| 7 | g.107919092C>A | CA368859550 | DLD | c.1457C>A (p.Ala486Glu) c.*1131C>A (n.*1131C>A) c.1313C>A (p.Ala438Glu) c.1388C>A (p.Ala463Glu) c.1160C>A (p.Ala387Glu) | |
| 7 | g.107919092C>G | CA368859551 | DLD | c.1457C>G (p.Ala486Gly) c.*1131C>G (n.*1131C>G) c.1313C>G (p.Ala438Gly) c.1388C>G (p.Ala463Gly) c.1160C>G (p.Ala387Gly) | |
| 7 | g.107919092C>T | CA368859552 | DLD | c.1457C>T (p.Ala486Val) c.*1131C>T (n.*1131C>T) c.1313C>T (p.Ala438Val) c.1388C>T (p.Ala463Val) c.1160C>T (p.Ala387Val) | |
| 7 | g.107919093A>C | CA457109829 | DLD | c.1458A>C (p.Ala486=) c.*1132A>C (n.*1132A>C) c.1314A>C (p.Ala438=) c.1389A>C (p.Ala463=) c.1161A>C (p.Ala387=) | |
| 7 | g.107919093A>G | CA457109830 | DLD | c.1458A>G (p.Ala486=) c.*1132A>G (n.*1132A>G) c.1314A>G (p.Ala438=) c.1389A>G (p.Ala463=) c.1161A>G (p.Ala387=) | |
| 7 | g.107919093A>T | CA457109831 | DLD | c.1458A>T (p.Ala486=) c.*1132A>T (n.*1132A>T) c.1314A>T (p.Ala438=) c.1389A>T (p.Ala463=) c.1161A>T (p.Ala387=) | |
| 7 | g.107919094C>A | CA368859553 | DLD | c.1459C>A (p.His487Asn) c.*1133C>A (n.*1133C>A) c.1315C>A (p.His439Asn) c.1390C>A (p.His464Asn) c.1162C>A (p.His388Asn) | |
| 7 | g.107919094C= | CA1732860750 | DLD | c.1459C= (p.His487=) c.*1133C= (n.*1133C=) c.1315C= (p.His439=) c.1390C= (p.His464=) c.1162C= (p.His388=) | |
| 7 | g.107919094C>G | CA368859554 | DLD | c.1459C>G (p.His487Asp) c.*1133C>G (n.*1133C>G) c.1315C>G (p.His439Asp) c.1390C>G (p.His464Asp) c.1162C>G (p.His388Asp) | |
| 7 | g.107919094C>T | CA4434713 | DLD | c.1459C>T (p.His487Tyr) c.*1133C>T (n.*1133C>T) c.1315C>T (p.His439Tyr) c.1390C>T (p.His464Tyr) c.1162C>T (p.His388Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919095A>C | CA368859555 | DLD | c.1460A>C (p.His487Pro) c.*1134A>C (n.*1134A>C) c.1316A>C (p.His439Pro) c.1391A>C (p.His464Pro) c.1163A>C (p.His388Pro) | |
| 7 | g.107919095A>G | CA368859556 | DLD | c.1460A>G (p.His487Arg) c.*1134A>G (n.*1134A>G) c.1316A>G (p.His439Arg) c.1391A>G (p.His464Arg) c.1163A>G (p.His388Arg) | |
| 7 | g.107919095A>T | CA368859557 | DLD | c.1460A>T (p.His487Leu) c.*1134A>T (n.*1134A>T) c.1316A>T (p.His439Leu) c.1391A>T (p.His464Leu) c.1163A>T (p.His388Leu) | |
| 7 | g.107919096T>A | CA368859558 | DLD | c.1461T>A (p.His487Gln) c.*1135T>A (n.*1135T>A) c.1317T>A (p.His439Gln) c.1392T>A (p.His464Gln) c.1164T>A (p.His388Gln) | |
| 7 | g.107919096T>C | CA457109833 | DLD | c.1461T>C (p.His487=) c.*1135T>C (n.*1135T>C) c.1317T>C (p.His439=) c.1392T>C (p.His464=) c.1164T>C (p.His388=) | |
| 7 | g.107919096T>G | CA368859559 | DLD | c.1461T>G (p.His487Gln) c.*1135T>G (n.*1135T>G) c.1317T>G (p.His439Gln) c.1392T>G (p.His464Gln) c.1164T>G (p.His388Gln) | |
| 7 | g.107919096_107919097del | CA913111805 | DLD | c.1461_1462del (p.Pro488AspfsTer7) c.*1135_*1136del (n.*1135_*1136del) c.1317_1318del (p.Pro440AspfsTer7) c.1392_1393del (p.Pro465AspfsTer7) c.1164_1165del (p.Pro389AspfsTer7) | |
| 7 | g.107919096_107919097delinsTC | CA1732860751 | DLD | c.1461_1462delinsTC (p.His487=) c.*1135_*1136delinsTC (n.*1135_*1136delinsTC) c.1317_1318delinsTC (p.His439=) c.1392_1393delinsTC (p.His464=) c.1164_1165delinsTC (p.His388=) | |
| 7 | g.107919097C>A | CA368859562 | DLD | c.1462C>A (p.Pro488Thr) c.*1136C>A (n.*1136C>A) c.1318C>A (p.Pro440Thr) c.1393C>A (p.Pro465Thr) c.1165C>A (p.Pro389Thr) | |
| 7 | g.107919097C>G | CA368859561 | DLD | c.1462C>G (p.Pro488Ala) c.*1136C>G (n.*1136C>G) c.1318C>G (p.Pro440Ala) c.1393C>G (p.Pro465Ala) c.1165C>G (p.Pro389Ala) | |
| 7 | g.107919097C>T | CA368859560 | DLD | c.1462C>T (p.Pro488Ser) c.*1136C>T (n.*1136C>T) c.1318C>T (p.Pro440Ser) c.1393C>T (p.Pro465Ser) c.1165C>T (p.Pro389Ser) | |
| 7 | g.107919098del | CA658821779 | DLD | c.1463del (p.Pro488ArgfsTer?) c.*1137del (n.*1137del) c.1319del (p.Pro440ArgfsTer?) c.1394del (p.Pro465ArgfsTer?) c.1166del (p.Pro389ArgfsTer?) | ClinVar dbSNP |
| 7 | g.107919098C>A | CA368859563 | DLD | c.1463C>A (p.Pro488Gln) c.*1137C>A (n.*1137C>A) c.1319C>A (p.Pro440Gln) c.1394C>A (p.Pro465Gln) c.1166C>A (p.Pro389Gln) | |
| 7 | g.107919098C= | CA1732860752 | DLD | c.1463C= (p.Pro488=) c.*1137C= (n.*1137C=) c.1319C= (p.Pro440=) c.1394C= (p.Pro465=) c.1166C= (p.Pro389=) | |
| 7 | g.107919098C>G | CA368859564 | DLD | c.1463C>G (p.Pro488Arg) c.*1137C>G (n.*1137C>G) c.1319C>G (p.Pro440Arg) c.1394C>G (p.Pro465Arg) c.1166C>G (p.Pro389Arg) | gnomAD v4 |
| 7 | g.107919098C>T | CA256133 | DLD | c.1463C>T (p.Pro488Leu) c.*1137C>T (n.*1137C>T) c.1319C>T (p.Pro440Leu) c.1394C>T (p.Pro465Leu) c.1166C>T (p.Pro389Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919099G>A | CA4434714 | DLD | c.1464G>A (p.Pro488=) c.*1138G>A (n.*1138G>A) c.1320G>A (p.Pro440=) c.1395G>A (p.Pro465=) c.1167G>A (p.Pro389=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919099G>C | CA457109835 | DLD | c.1464G>C (p.Pro488=) c.*1138G>C (n.*1138G>C) c.1320G>C (p.Pro440=) c.1395G>C (p.Pro465=) c.1167G>C (p.Pro389=) | |
| 7 | g.107919099G= | CA1732860753 | DLD | c.1464G= (p.Pro488=) c.*1138G= (n.*1138G=) c.1320G= (p.Pro440=) c.1395G= (p.Pro465=) c.1167G= (p.Pro389=) | |
| 7 | g.107919099G>T | CA457109836 | DLD | c.1464G>T (p.Pro488=) c.*1138G>T (n.*1138G>T) c.1320G>T (p.Pro440=) c.1395G>T (p.Pro465=) c.1167G>T (p.Pro389=) | |
| 7 | g.107919100_107919193del | CA2684460743 | DLD | c.1464+1_1465-1del c.*1138+1_*1139-1del c.1320+1_1321-1del c.1395+1_1396-1del c.1167+1_1168-1del | gnomAD v4 |
| 7 | g.107919100G>A | CA368859565 | DLD | c.1464+1G>A (n.1464+1G>A) c.*1138+1G>A (n.*1138+1G>A) c.1320+1G>A (n.1320+1G>A) c.1395+1G>A (n.1395+1G>A) c.1167+1G>A (n.1167+1G>A) | ClinVar |
| 7 | g.107919100G>C | CA368859566 | DLD | c.1464+1G>C (n.1464+1G>C) c.*1138+1G>C (n.*1138+1G>C) c.1320+1G>C (n.1320+1G>C) c.1395+1G>C (n.1395+1G>C) c.1167+1G>C (n.1167+1G>C) | |
| 7 | g.107919100G>T | CA368859567 | DLD | c.1464+1G>T (n.1464+1G>T) c.*1138+1G>T (n.*1138+1G>T) c.1320+1G>T (n.1320+1G>T) c.1395+1G>T (n.1395+1G>T) c.1167+1G>T (n.1167+1G>T) | |
| 7 | g.107919101T>A | CA368859568 | DLD | c.1464+2T>A (n.1464+2T>A) c.*1138+2T>A (n.*1138+2T>A) c.1320+2T>A (n.1320+2T>A) c.1395+2T>A (n.1395+2T>A) c.1167+2T>A (n.1167+2T>A) | |
| 7 | g.107919101T>C | CA368859569 | DLD | c.1464+2T>C (n.1464+2T>C) c.*1138+2T>C (n.*1138+2T>C) c.1320+2T>C (n.1320+2T>C) c.1395+2T>C (n.1395+2T>C) c.1167+2T>C (n.1167+2T>C) | |
| 7 | g.107919101T>G | CA368859570 | DLD | c.1464+2T>G (n.1464+2T>G) c.*1138+2T>G (n.*1138+2T>G) c.1320+2T>G (n.1320+2T>G) c.1395+2T>G (n.1395+2T>G) c.1167+2T>G (n.1167+2T>G) | |
| 7 | g.107919101_107919121delinsTAATTATTAACAACATATAGA | CA1732860754 | DLD | c.1464+2_1464+22delinsTAATTATTAACAACATATAGA (n.1464+2_1464+22delinsTAATTATTAACAACATATAGA) c.*1138+2_*1138+22delinsTAATTATTAACAACATATAGA (n.*1138+2_*1138+22delinsTAATTATTAACAACATATAGA) c.1320+2_1320+22delinsTAATTATTAACAACATATAGA (n.1320+2_1320+22delinsTAATTATTAACAACATATAGA) c.1395+2_1395+22delinsTAATTATTAACAACATATAGA (n.1395+2_1395+22delinsTAATTATTAACAACATATAGA) c.1167+2_1167+22delinsTAATTATTAACAACATATAGA (n.1167+2_1167+22delinsTAATTATTAACAACATATAGA) | |
| 7 | g.107919102A>G | CA2578990244 | DLD | c.1464+3A>G (n.1464+3A>G) c.*1138+3A>G (n.*1138+3A>G) c.1320+3A>G (n.1320+3A>G) c.1395+3A>G (n.1395+3A>G) c.1167+3A>G (n.1167+3A>G) | |
| 7 | g.107919103_107919122del | CA1105645634 | DLD | c.1464+4_1464+23del (n.1464+4_1464+23del) c.*1138+4_*1138+23del (n.*1138+4_*1138+23del) c.1320+4_1320+23del (n.1320+4_1320+23del) c.1395+4_1395+23del (n.1395+4_1395+23del) c.1167+4_1167+23del (n.1167+4_1167+23del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107919105T>C | CA4434715 | DLD | c.1464+6T>C (n.1464+6T>C) c.*1138+6T>C (n.*1138+6T>C) c.1320+6T>C (n.1320+6T>C) c.1395+6T>C (n.1395+6T>C) c.1167+6T>C (n.1167+6T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919105T= | CA1732860755 | DLD | c.1464+6T= (n.1464+6T=) c.*1138+6T= (n.*1138+6T=) c.1320+6T= (n.1320+6T=) c.1395+6T= (n.1395+6T=) c.1167+6T= (n.1167+6T=) | |
| 7 | g.107919107T>C | CA2777357410 | DLD | c.1464+8T>C (n.1464+8T>C) c.*1138+8T>C (n.*1138+8T>C) c.1320+8T>C (n.1320+8T>C) c.1395+8T>C (n.1395+8T>C) c.1167+8T>C (n.1167+8T>C) | |
| 7 | g.107919110A= | CA1732860756 | DLD | c.1464+11A= (n.1464+11A=) c.*1138+11A= (n.*1138+11A=) c.1320+11A= (n.1320+11A=) c.1395+11A= (n.1395+11A=) c.1167+11A= (n.1167+11A=) | |
| 7 | g.107919110A>G | CA4434716 | DLD | c.1464+11A>G (n.1464+11A>G) c.*1138+11A>G (n.*1138+11A>G) c.1320+11A>G (n.1320+11A>G) c.1395+11A>G (n.1395+11A>G) c.1167+11A>G (n.1167+11A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |