| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107919239_107919244del | CA2684461032 | DLD | c.1510_1515del (p.Gly504_Lys505del) c.*1184_*1189del (n.*1184_*1189del) c.1366_1371del (p.Gly456_Lys457del) c.1441_1446del (p.Gly481_Lys482del) c.1213_1218del (p.Gly405_Lys406del) | gnomAD v4 |
| 7 | g.107919242_107919246delinsAAATC | CA1732860815 | DLD | c.1513_1517delinsAAATC (p.Lys505=) c.*1187_*1191delinsAAATC (n.*1187_*1191delinsAAATC) c.1369_1373delinsAAATC (p.Lys457=) c.1444_1448delinsAAATC (p.Lys482=) c.1216_1220delinsAAATC (p.Lys406=) | |
| 7 | g.107919243A= | CA1732860817 | DLD | c.1514A= (p.Lys505=) c.*1188A= (n.*1188A=) c.1370A= (p.Lys457=) c.1445A= (p.Lys482=) c.1217A= (p.Lys406=) | |
| 7 | g.107919243A>C | CA368859683 | DLD | c.1514A>C (p.Lys505Thr) c.*1188A>C (n.*1188A>C) c.1370A>C (p.Lys457Thr) c.1445A>C (p.Lys482Thr) c.1217A>C (p.Lys406Thr) | |
| 7 | g.107919243A>G | CA368859684 | DLD | c.1514A>G (p.Lys505Arg) c.*1188A>G (n.*1188A>G) c.1370A>G (p.Lys457Arg) c.1445A>G (p.Lys482Arg) c.1217A>G (p.Lys406Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919243A>T | CA368859685 | DLD | c.1514A>T (p.Lys505Ile) c.*1188A>T (n.*1188A>T) c.1370A>T (p.Lys457Ile) c.1445A>T (p.Lys482Ile) c.1217A>T (p.Lys406Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919249_107919252del | CA4434736 | DLD | c.1520_1523del (p.Ile507ThrfsTer?) c.*1194_*1197del (n.*1194_*1197del) c.1376_1379del (p.Ile459ThrfsTer?) c.1451_1454del (p.Ile484ThrfsTer?) c.1223_1226del (p.Ile408ThrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919244A>C | CA368859686 | DLD | c.1515A>C (p.Lys505Asn) c.*1189A>C (n.*1189A>C) c.1371A>C (p.Lys457Asn) c.1446A>C (p.Lys482Asn) c.1218A>C (p.Lys406Asn) | gnomAD v4 |
| 7 | g.107919244A>G | CA457109876 | DLD | c.1515A>G (p.Lys505=) c.*1189A>G (n.*1189A>G) c.1371A>G (p.Lys457=) c.1446A>G (p.Lys482=) c.1218A>G (p.Lys406=) | ClinVar |
| 7 | g.107919244A>T | CA368859687 | DLD | c.1515A>T (p.Lys505Asn) c.*1189A>T (n.*1189A>T) c.1371A>T (p.Lys457Asn) c.1446A>T (p.Lys482Asn) c.1218A>T (p.Lys406Asn) | |
| 7 | g.107919245T>A | CA368859690 | DLD | c.1516T>A (p.Ser506Thr) c.*1190T>A (n.*1190T>A) c.1372T>A (p.Ser458Thr) c.1447T>A (p.Ser483Thr) c.1219T>A (p.Ser407Thr) | |
| 7 | g.107919245T>C | CA368859689 | DLD | c.1516T>C (p.Ser506Pro) c.*1190T>C (n.*1190T>C) c.1372T>C (p.Ser458Pro) c.1447T>C (p.Ser483Pro) c.1219T>C (p.Ser407Pro) | gnomAD v4 |
| 7 | g.107919245T>G | CA368859688 | DLD | c.1516T>G (p.Ser506Ala) c.*1190T>G (n.*1190T>G) c.1372T>G (p.Ser458Ala) c.1447T>G (p.Ser483Ala) c.1219T>G (p.Ser407Ala) | |
| 7 | g.107919246C>A | CA368859691 | DLD | c.1517C>A (p.Ser506Ter) c.*1191C>A (n.*1191C>A) c.1373C>A (p.Ser458Ter) c.1448C>A (p.Ser483Ter) c.1220C>A (p.Ser407Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919246C= | CA1732860818 | DLD | c.1517C= (p.Ser506=) c.*1191C= (n.*1191C=) c.1373C= (p.Ser458=) c.1448C= (p.Ser483=) c.1220C= (p.Ser407=) | |
| 7 | g.107919246C>G | CA368859693 | DLD | c.1517C>G (p.Ser506Ter) c.*1191C>G (n.*1191C>G) c.1373C>G (p.Ser458Ter) c.1448C>G (p.Ser483Ter) c.1220C>G (p.Ser407Ter) | |
| 7 | g.107919246C>T | CA368859692 | DLD | c.1517C>T (p.Ser506Leu) c.*1191C>T (n.*1191C>T) c.1373C>T (p.Ser458Leu) c.1448C>T (p.Ser483Leu) c.1220C>T (p.Ser407Leu) | |
| 7 | g.107919247A= | CA1732860819 | DLD | c.1518A= (p.Ser506=) c.*1192A= (n.*1192A=) c.1374A= (p.Ser458=) c.1449A= (p.Ser483=) c.1221A= (p.Ser407=) | |
| 7 | g.107919247A>C | CA457109881 | DLD | c.1518A>C (p.Ser506=) c.*1192A>C (n.*1192A>C) c.1374A>C (p.Ser458=) c.1449A>C (p.Ser483=) c.1221A>C (p.Ser407=) | dbSNP |
| 7 | g.107919247A>G | CA457109877 | DLD | c.1518A>G (p.Ser506=) c.*1192A>G (n.*1192A>G) c.1374A>G (p.Ser458=) c.1449A>G (p.Ser483=) c.1221A>G (p.Ser407=) | gnomAD v4 |
| 7 | g.107919247A>T | CA457109879 | DLD | c.1518A>T (p.Ser506=) c.*1192A>T (n.*1192A>T) c.1374A>T (p.Ser458=) c.1449A>T (p.Ser483=) c.1221A>T (p.Ser407=) | |
| 7 | g.107919248A= | CA1732860820 | DLD | c.1519A= (p.Ile507=) c.*1193A= (n.*1193A=) c.1375A= (p.Ile459=) c.1450A= (p.Ile484=) c.1222A= (p.Ile408=) | |
| 7 | g.107919248A>C | CA368859694 | DLD | c.1519A>C (p.Ile507Leu) c.*1193A>C (n.*1193A>C) c.1375A>C (p.Ile459Leu) c.1450A>C (p.Ile484Leu) c.1222A>C (p.Ile408Leu) | |
| 7 | g.107919248A>G | CA4434737 | DLD | c.1519A>G (p.Ile507Val) c.*1193A>G (n.*1193A>G) c.1375A>G (p.Ile459Val) c.1450A>G (p.Ile484Val) c.1222A>G (p.Ile408Val) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 7 | g.107919248A>T | CA368859695 | DLD | c.1519A>T (p.Ile507Phe) c.*1193A>T (n.*1193A>T) c.1375A>T (p.Ile459Phe) c.1450A>T (p.Ile484Phe) c.1222A>T (p.Ile408Phe) | |
| 7 | g.107919249T>A | CA368859696 | DLD | c.1520T>A (p.Ile507Asn) c.*1194T>A (n.*1194T>A) c.1376T>A (p.Ile459Asn) c.1451T>A (p.Ile484Asn) c.1223T>A (p.Ile408Asn) | COSMIC COSMIC |
| 7 | g.107919249T>C | CA368859697 | DLD | c.1520T>C (p.Ile507Thr) c.*1194T>C (n.*1194T>C) c.1376T>C (p.Ile459Thr) c.1451T>C (p.Ile484Thr) c.1223T>C (p.Ile408Thr) | |
| 7 | g.107919249T>G | CA368859698 | DLD | c.1520T>G (p.Ile507Ser) c.*1194T>G (n.*1194T>G) c.1376T>G (p.Ile459Ser) c.1451T>G (p.Ile484Ser) c.1223T>G (p.Ile408Ser) | |
| 7 | g.107919250C>A | CA457109883 | DLD | c.1521C>A (p.Ile507=) c.*1195C>A (n.*1195C>A) c.1377C>A (p.Ile459=) c.1452C>A (p.Ile484=) c.1224C>A (p.Ile408=) | gnomAD v4 |
| 7 | g.107919250C>G | CA368859699 | DLD | c.1521C>G (p.Ile507Met) c.*1195C>G (n.*1195C>G) c.1377C>G (p.Ile459Met) c.1452C>G (p.Ile484Met) c.1224C>G (p.Ile408Met) | |
| 7 | g.107919250C>T | CA457109885 | DLD | c.1521C>T (p.Ile507=) c.*1195C>T (n.*1195C>T) c.1377C>T (p.Ile459=) c.1452C>T (p.Ile484=) c.1224C>T (p.Ile408=) | |
| 7 | g.107919251A>C | CA368859700 | DLD | c.1522A>C (p.Asn508His) c.*1196A>C (n.*1196A>C) c.1378A>C (p.Asn460His) c.1453A>C (p.Asn485His) c.1225A>C (p.Asn409His) | |
| 7 | g.107919251A>G | CA368859702 | DLD | c.1522A>G (p.Asn508Asp) c.*1196A>G (n.*1196A>G) c.1378A>G (p.Asn460Asp) c.1453A>G (p.Asn485Asp) c.1225A>G (p.Asn409Asp) | |
| 7 | g.107919251A>T | CA368859701 | DLD | c.1522A>T (p.Asn508Tyr) c.*1196A>T (n.*1196A>T) c.1378A>T (p.Asn460Tyr) c.1453A>T (p.Asn485Tyr) c.1225A>T (p.Asn409Tyr) | |
| 7 | g.107919252A= | CA1732860821 | DLD | c.1523A= (p.Asn508=) c.*1197A= (n.*1197A=) c.1379A= (p.Asn460=) c.1454A= (p.Asn485=) c.1226A= (p.Asn409=) | |
| 7 | g.107919252A>C | CA368859703 | DLD | c.1523A>C (p.Asn508Thr) c.*1197A>C (n.*1197A>C) c.1379A>C (p.Asn460Thr) c.1454A>C (p.Asn485Thr) c.1226A>C (p.Asn409Thr) | |
| 7 | g.107919252A>G | CA4434738 | DLD | c.1523A>G (p.Asn508Ser) c.*1197A>G (n.*1197A>G) c.1379A>G (p.Asn460Ser) c.1454A>G (p.Asn485Ser) c.1226A>G (p.Asn409Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919252A>T | CA368859704 | DLD | c.1523A>T (p.Asn508Ile) c.*1197A>T (n.*1197A>T) c.1379A>T (p.Asn460Ile) c.1454A>T (p.Asn485Ile) c.1226A>T (p.Asn409Ile) | |
| 7 | g.107919253C>A | CA368859705 | DLD | c.1524C>A (p.Asn508Lys) c.*1198C>A (n.*1198C>A) c.1380C>A (p.Asn460Lys) c.1455C>A (p.Asn485Lys) c.1227C>A (p.Asn409Lys) | |
| 7 | g.107919253C= | CA1732860822 | DLD | c.1524C= (p.Asn508=) c.*1198C= (n.*1198C=) c.1380C= (p.Asn460=) c.1455C= (p.Asn485=) c.1227C= (p.Asn409=) | |
| 7 | g.107919253C>G | CA368859706 | DLD | c.1524C>G (p.Asn508Lys) c.*1198C>G (n.*1198C>G) c.1380C>G (p.Asn460Lys) c.1455C>G (p.Asn485Lys) c.1227C>G (p.Asn409Lys) | |
| 7 | g.107919253C>T | CA457109889 | DLD | c.1524C>T (p.Asn508=) c.*1198C>T (n.*1198C>T) c.1380C>T (p.Asn460=) c.1455C>T (p.Asn485=) c.1227C>T (p.Asn409=) | |
| 7 | g.107919254T>A | CA368859707 | DLD | c.1525T>A (p.Phe509Ile) c.*1199T>A (n.*1199T>A) c.1381T>A (p.Phe461Ile) c.1456T>A (p.Phe486Ile) c.1228T>A (p.Phe410Ile) | |
| 7 | g.107919254T>C | CA368859708 | DLD | c.1525T>C (p.Phe509Leu) c.*1199T>C (n.*1199T>C) c.1381T>C (p.Phe461Leu) c.1456T>C (p.Phe486Leu) c.1228T>C (p.Phe410Leu) | |
| 7 | g.107919254T>G | CA4434739 | DLD | c.1525T>G (p.Phe509Val) c.*1199T>G (n.*1199T>G) c.1381T>G (p.Phe461Val) c.1456T>G (p.Phe486Val) c.1228T>G (p.Phe410Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919254T= | CA1732860823 | DLD | c.1525T= (p.Phe509=) c.*1199T= (n.*1199T=) c.1381T= (p.Phe461=) c.1456T= (p.Phe486=) c.1228T= (p.Phe410=) | |
| 7 | g.107919257dup | CA913189685 | DLD | c.1528dup (p.Ter510LeuextTer3) c.*1202dup (n.*1202dup) c.1384dup (p.Ter462LeuextTer3) c.1459dup (p.Ter487LeuextTer3) c.1231dup (p.Ter411LeuextTer3) | ClinVar dbSNP |
| 7 | g.107919255T>A | CA368859709 | DLD | c.1526T>A (p.Phe509Tyr) c.*1200T>A (n.*1200T>A) c.1382T>A (p.Phe461Tyr) c.1457T>A (p.Phe486Tyr) c.1229T>A (p.Phe410Tyr) | |
| 7 | g.107919255T>C | CA368859710 | DLD | c.1526T>C (p.Phe509Ser) c.*1200T>C (n.*1200T>C) c.1382T>C (p.Phe461Ser) c.1457T>C (p.Phe486Ser) c.1229T>C (p.Phe410Ser) | |
| 7 | g.107919255T>G | CA368859711 | DLD | c.1526T>G (p.Phe509Cys) c.*1200T>G (n.*1200T>G) c.1382T>G (p.Phe461Cys) c.1457T>G (p.Phe486Cys) c.1229T>G (p.Phe410Cys) |