UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107919218G>A | CA368859634 | DLD | c.1489G>A (p.Ala497Thr) c.*1163G>A (n.*1163G>A) c.1345G>A (p.Ala449Thr) c.1420G>A (p.Ala474Thr) c.1192G>A (p.Ala398Thr) | |
| 7 | g.107919218G>C | CA368859633 | DLD | c.1489G>C (p.Ala497Pro) c.*1163G>C (n.*1163G>C) c.1345G>C (p.Ala449Pro) c.1420G>C (p.Ala474Pro) c.1192G>C (p.Ala398Pro) | |
| 7 | g.107919218G>T | CA368859632 | DLD | c.1489G>T (p.Ala497Ser) c.*1163G>T (n.*1163G>T) c.1345G>T (p.Ala449Ser) c.1420G>T (p.Ala474Ser) c.1192G>T (p.Ala398Ser) | |
| 7 | g.107919219C>A | CA164259103 | DLD | c.1490C>A (p.Ala497Glu) c.*1164C>A (n.*1164C>A) c.1346C>A (p.Ala449Glu) c.1421C>A (p.Ala474Glu) c.1193C>A (p.Ala398Glu) | dbSNP |
| 7 | g.107919219C= | CA1732860802 | DLD | c.1490C= (p.Ala497=) c.*1164C= (n.*1164C=) c.1346C= (p.Ala449=) c.1421C= (p.Ala474=) c.1193C= (p.Ala398=) | |
| 7 | g.107919219C>G | CA368859636 | DLD | c.1490C>G (p.Ala497Gly) c.*1164C>G (n.*1164C>G) c.1346C>G (p.Ala449Gly) c.1421C>G (p.Ala474Gly) c.1193C>G (p.Ala398Gly) | dbSNP |
| 7 | g.107919219C>T | CA368859635 | DLD | c.1490C>T (p.Ala497Val) c.*1164C>T (n.*1164C>T) c.1346C>T (p.Ala449Val) c.1421C>T (p.Ala474Val) c.1193C>T (p.Ala398Val) | |
| 7 | g.107919220A>C | CA457109859 | DLD | c.1491A>C (p.Ala497=) c.*1165A>C (n.*1165A>C) c.1347A>C (p.Ala449=) c.1422A>C (p.Ala474=) c.1194A>C (p.Ala398=) | |
| 7 | g.107919220A>G | CA457109860 | DLD | c.1491A>G (p.Ala497=) c.*1165A>G (n.*1165A>G) c.1347A>G (p.Ala449=) c.1422A>G (p.Ala474=) c.1194A>G (p.Ala398=) | |
| 7 | g.107919220A>T | CA457109861 | DLD | c.1491A>T (p.Ala497=) c.*1165A>T (n.*1165A>T) c.1347A>T (p.Ala449=) c.1422A>T (p.Ala474=) c.1194A>T (p.Ala398=) | |
| 7 | g.107919221A= | CA1732860803 | DLD | c.1492A= (p.Asn498=) c.*1166A= (n.*1166A=) c.1348A= (p.Asn450=) c.1423A= (p.Asn475=) c.1195A= (p.Asn399=) | |
| 7 | g.107919221A>C | CA4434732 | DLD | c.1492A>C (p.Asn498His) c.*1166A>C (n.*1166A>C) c.1348A>C (p.Asn450His) c.1423A>C (p.Asn475His) c.1195A>C (p.Asn399His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919221A>G | CA368859637 | DLD | c.1492A>G (p.Asn498Asp) c.*1166A>G (n.*1166A>G) c.1348A>G (p.Asn450Asp) c.1423A>G (p.Asn475Asp) c.1195A>G (p.Asn399Asp) | |
| 7 | g.107919221A>T | CA368859638 | DLD | c.1492A>T (p.Asn498Tyr) c.*1166A>T (n.*1166A>T) c.1348A>T (p.Asn450Tyr) c.1423A>T (p.Asn475Tyr) c.1195A>T (p.Asn399Tyr) | |
| 7 | g.107919222A= | CA1732860804 | DLD | c.1493A= (p.Asn498=) c.*1167A= (n.*1167A=) c.1349A= (p.Asn450=) c.1424A= (p.Asn475=) c.1196A= (p.Asn399=) | |
| 7 | g.107919222A>C | CA164259105 | DLD | c.1493A>C (p.Asn498Thr) c.*1167A>C (n.*1167A>C) c.1349A>C (p.Asn450Thr) c.1424A>C (p.Asn475Thr) c.1196A>C (p.Asn399Thr) | dbSNP |
| 7 | g.107919222A>G | CA368859639 | DLD | c.1493A>G (p.Asn498Ser) c.*1167A>G (n.*1167A>G) c.1349A>G (p.Asn450Ser) c.1424A>G (p.Asn475Ser) c.1196A>G (p.Asn399Ser) | |
| 7 | g.107919222A>T | CA368859640 | DLD | c.1493A>T (p.Asn498Ile) c.*1167A>T (n.*1167A>T) c.1349A>T (p.Asn450Ile) c.1424A>T (p.Asn475Ile) c.1196A>T (p.Asn399Ile) | |
| 7 | g.107919223T>A | CA368859641 | DLD | c.1494T>A (p.Asn498Lys) c.*1168T>A (n.*1168T>A) c.1350T>A (p.Asn450Lys) c.1425T>A (p.Asn475Lys) c.1197T>A (p.Asn399Lys) | |
| 7 | g.107919223T>C | CA457109862 | DLD | c.1494T>C (p.Asn498=) c.*1168T>C (n.*1168T>C) c.1350T>C (p.Asn450=) c.1425T>C (p.Asn475=) c.1197T>C (p.Asn399=) | |
| 7 | g.107919223T>G | CA368859642 | DLD | c.1494T>G (p.Asn498Lys) c.*1168T>G (n.*1168T>G) c.1350T>G (p.Asn450Lys) c.1425T>G (p.Asn475Lys) c.1197T>G (p.Asn399Lys) | |
| 7 | g.107919224C>A | CA368859643 | DLD | c.1495C>A (p.Leu499Ile) c.*1169C>A (n.*1169C>A) c.1351C>A (p.Leu451Ile) c.1426C>A (p.Leu476Ile) c.1198C>A (p.Leu400Ile) | |
| 7 | g.107919224C= | CA1732860805 | DLD | c.1495C= (p.Leu499=) c.*1169C= (n.*1169C=) c.1351C= (p.Leu451=) c.1426C= (p.Leu476=) c.1198C= (p.Leu400=) | |
| 7 | g.107919224C>G | CA368859644 | DLD | c.1495C>G (p.Leu499Val) c.*1169C>G (n.*1169C>G) c.1351C>G (p.Leu451Val) c.1426C>G (p.Leu476Val) c.1198C>G (p.Leu400Val) | |
| 7 | g.107919224C>T | CA368859645 | DLD | c.1495C>T (p.Leu499Phe) c.*1169C>T (n.*1169C>T) c.1351C>T (p.Leu451Phe) c.1426C>T (p.Leu476Phe) c.1198C>T (p.Leu400Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919225T>A | CA368859648 | DLD | c.1496T>A (p.Leu499His) c.*1170T>A (n.*1170T>A) c.1352T>A (p.Leu451His) c.1427T>A (p.Leu476His) c.1199T>A (p.Leu400His) | |
| 7 | g.107919225T>C | CA368859647 | DLD | c.1496T>C (p.Leu499Pro) c.*1170T>C (n.*1170T>C) c.1352T>C (p.Leu451Pro) c.1427T>C (p.Leu476Pro) c.1199T>C (p.Leu400Pro) | |
| 7 | g.107919225T>G | CA368859646 | DLD | c.1496T>G (p.Leu499Arg) c.*1170T>G (n.*1170T>G) c.1352T>G (p.Leu451Arg) c.1427T>G (p.Leu476Arg) c.1199T>G (p.Leu400Arg) | |
| 7 | g.107919225_107919226insGT | CA577039399 | DLD | c.1496_1497insGT (p.Ala500LeufsTer?) c.*1170_*1171insGT (n.*1170_*1171insGT) c.1352_1353insGT (p.Ala452LeufsTer?) c.1427_1428insGT (p.Ala477LeufsTer?) c.1199_1200insGT (p.Ala401LeufsTer?) | dbSNP gnomAD v2 |
| 7 | g.107919226T>A | CA457109865 | DLD | c.1497T>A (p.Leu499=) c.*1171T>A (n.*1171T>A) c.1353T>A (p.Leu451=) c.1428T>A (p.Leu476=) c.1200T>A (p.Leu400=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919226T>C | CA457109863 | DLD | c.1497T>C (p.Leu499=) c.*1171T>C (n.*1171T>C) c.1353T>C (p.Leu451=) c.1428T>C (p.Leu476=) c.1200T>C (p.Leu400=) | |
| 7 | g.107919226T>G | CA457109864 | DLD | c.1497T>G (p.Leu499=) c.*1171T>G (n.*1171T>G) c.1353T>G (p.Leu451=) c.1428T>G (p.Leu476=) c.1200T>G (p.Leu400=) | |
| 7 | g.107919226T= | CA1732860806 | DLD | c.1497T= (p.Leu499=) c.*1171T= (n.*1171T=) c.1353T= (p.Leu451=) c.1428T= (p.Leu476=) c.1200T= (p.Leu400=) | |
| 7 | g.107919227G>A | CA368859649 | DLD | c.1498G>A (p.Ala500Thr) c.*1172G>A (n.*1172G>A) c.1354G>A (p.Ala452Thr) c.1429G>A (p.Ala477Thr) c.1201G>A (p.Ala401Thr) | gnomAD v4 |
| 7 | g.107919227G>C | CA368859650 | DLD | c.1498G>C (p.Ala500Pro) c.*1172G>C (n.*1172G>C) c.1354G>C (p.Ala452Pro) c.1429G>C (p.Ala477Pro) c.1201G>C (p.Ala401Pro) | |
| 7 | g.107919227G= | CA1732860807 | DLD | c.1498G= (p.Ala500=) c.*1172G= (n.*1172G=) c.1354G= (p.Ala452=) c.1429G= (p.Ala477=) c.1201G= (p.Ala401=) | |
| 7 | g.107919227G>T | CA368859651 | DLD | c.1498G>T (p.Ala500Ser) c.*1172G>T (n.*1172G>T) c.1354G>T (p.Ala452Ser) c.1429G>T (p.Ala477Ser) c.1201G>T (p.Ala401Ser) | dbSNP gnomAD v2 |
| 7 | g.107919228C>A | CA368859652 | DLD | c.1499C>A (p.Ala500Asp) c.*1173C>A (n.*1173C>A) c.1355C>A (p.Ala452Asp) c.1430C>A (p.Ala477Asp) c.1202C>A (p.Ala401Asp) | gnomAD v4 |
| 7 | g.107919228C>G | CA368859653 | DLD | c.1499C>G (p.Ala500Gly) c.*1173C>G (n.*1173C>G) c.1355C>G (p.Ala452Gly) c.1430C>G (p.Ala477Gly) c.1202C>G (p.Ala401Gly) | |
| 7 | g.107919228C>T | CA368859654 | DLD | c.1499C>T (p.Ala500Val) c.*1173C>T (n.*1173C>T) c.1355C>T (p.Ala452Val) c.1430C>T (p.Ala477Val) c.1202C>T (p.Ala401Val) | gnomAD v4 |
| 7 | g.107919229T>A | CA457109866 | DLD | c.1500T>A (p.Ala500=) c.*1174T>A (n.*1174T>A) c.1356T>A (p.Ala452=) c.1431T>A (p.Ala477=) c.1203T>A (p.Ala401=) | |
| 7 | g.107919229T>C | CA4434733 | DLD | c.1500T>C (p.Ala500=) c.*1174T>C (n.*1174T>C) c.1356T>C (p.Ala452=) c.1431T>C (p.Ala477=) c.1203T>C (p.Ala401=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919229T>G | CA457109867 | DLD | c.1500T>G (p.Ala500=) c.*1174T>G (n.*1174T>G) c.1356T>G (p.Ala452=) c.1431T>G (p.Ala477=) c.1203T>G (p.Ala401=) | |
| 7 | g.107919229T= | CA1732860808 | DLD | c.1500T= (p.Ala500=) c.*1174T= (n.*1174T=) c.1356T= (p.Ala452=) c.1431T= (p.Ala477=) c.1203T= (p.Ala401=) | |
| 7 | g.107919230G>A | CA368859655 | DLD | c.1501G>A (p.Ala501Thr) c.*1175G>A (n.*1175G>A) c.1357G>A (p.Ala453Thr) c.1432G>A (p.Ala478Thr) c.1204G>A (p.Ala402Thr) | dbSNP |
| 7 | g.107919230G>C | CA368859656 | DLD | c.1501G>C (p.Ala501Pro) c.*1175G>C (n.*1175G>C) c.1357G>C (p.Ala453Pro) c.1432G>C (p.Ala478Pro) c.1204G>C (p.Ala402Pro) | |
| 7 | g.107919230G= | CA1732860809 | DLD | c.1501G= (p.Ala501=) c.*1175G= (n.*1175G=) c.1357G= (p.Ala453=) c.1432G= (p.Ala478=) c.1204G= (p.Ala402=) | |
| 7 | g.107919230G>T | CA368859657 | DLD | c.1501G>T (p.Ala501Ser) c.*1175G>T (n.*1175G>T) c.1357G>T (p.Ala453Ser) c.1432G>T (p.Ala478Ser) c.1204G>T (p.Ala402Ser) | |
| 7 | g.107919231C>A | CA368859658 | DLD | c.1502C>A (p.Ala501Glu) c.*1176C>A (n.*1176C>A) c.1358C>A (p.Ala453Glu) c.1433C>A (p.Ala478Glu) c.1205C>A (p.Ala402Glu) | gnomAD v4 |
| 7 | g.107919231C= | CA1732860810 | DLD | c.1502C= (p.Ala501=) c.*1176C= (n.*1176C=) c.1358C= (p.Ala453=) c.1433C= (p.Ala478=) c.1205C= (p.Ala402=) | |
| 7 | g.107919231C>G | CA368859659 | DLD | c.1502C>G (p.Ala501Gly) c.*1176C>G (n.*1176C>G) c.1358C>G (p.Ala453Gly) c.1433C>G (p.Ala478Gly) c.1205C>G (p.Ala402Gly) | |
| 7 | g.107919231C>T | CA4434734 | DLD | c.1502C>T (p.Ala501Val) c.*1176C>T (n.*1176C>T) c.1358C>T (p.Ala453Val) c.1433C>T (p.Ala478Val) c.1205C>T (p.Ala402Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919232G>A | CA4434735 | DLD | c.1503G>A (p.Ala501=) c.*1177G>A (n.*1177G>A) c.1359G>A (p.Ala453=) c.1434G>A (p.Ala478=) c.1206G>A (p.Ala402=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919232G>C | CA457109868 | DLD | c.1503G>C (p.Ala501=) c.*1177G>C (n.*1177G>C) c.1359G>C (p.Ala453=) c.1434G>C (p.Ala478=) c.1206G>C (p.Ala402=) | |
| 7 | g.107919232G= | CA1732860811 | DLD | c.1503G= (p.Ala501=) c.*1177G= (n.*1177G=) c.1359G= (p.Ala453=) c.1434G= (p.Ala478=) c.1206G= (p.Ala402=) | |
| 7 | g.107919232G>T | CA457109869 | DLD | c.1503G>T (p.Ala501=) c.*1177G>T (n.*1177G>T) c.1359G>T (p.Ala453=) c.1434G>T (p.Ala478=) c.1206G>T (p.Ala402=) | |
| 7 | g.107919233T>A | CA368859662 | DLD | c.1504T>A (p.Ser502Thr) c.*1178T>A (n.*1178T>A) c.1360T>A (p.Ser454Thr) c.1435T>A (p.Ser479Thr) c.1207T>A (p.Ser403Thr) | |
| 7 | g.107919233T>C | CA368859660 | DLD | c.1504T>C (p.Ser502Pro) c.*1178T>C (n.*1178T>C) c.1360T>C (p.Ser454Pro) c.1435T>C (p.Ser479Pro) c.1207T>C (p.Ser403Pro) | |
| 7 | g.107919233T>G | CA368859661 | DLD | c.1504T>G (p.Ser502Ala) c.*1178T>G (n.*1178T>G) c.1360T>G (p.Ser454Ala) c.1435T>G (p.Ser479Ala) c.1207T>G (p.Ser403Ala) | |
| 7 | g.107919234C>A | CA368859663 | DLD | c.1505C>A (p.Ser502Ter) c.*1179C>A (n.*1179C>A) c.1361C>A (p.Ser454Ter) c.1436C>A (p.Ser479Ter) c.1208C>A (p.Ser403Ter) | |
| 7 | g.107919234C= | CA1732860812 | DLD | c.1505C= (p.Ser502=) c.*1179C= (n.*1179C=) c.1361C= (p.Ser454=) c.1436C= (p.Ser479=) c.1208C= (p.Ser403=) | |
| 7 | g.107919234C>G | CA368859664 | DLD | c.1505C>G (p.Ser502Ter) c.*1179C>G (n.*1179C>G) c.1361C>G (p.Ser454Ter) c.1436C>G (p.Ser479Ter) c.1208C>G (p.Ser403Ter) | |
| 7 | g.107919234C>T | CA368859665 | DLD | c.1505C>T (p.Ser502Leu) c.*1179C>T (n.*1179C>T) c.1361C>T (p.Ser454Leu) c.1436C>T (p.Ser479Leu) c.1208C>T (p.Ser403Leu) | dbSNP |
| 7 | g.107919235A= | CA1732860813 | DLD | c.1506A= (p.Ser502=) c.*1180A= (n.*1180A=) c.1362A= (p.Ser454=) c.1437A= (p.Ser479=) c.1209A= (p.Ser403=) | |
| 7 | g.107919235A>C | CA457109870 | DLD | c.1506A>C (p.Ser502=) c.*1180A>C (n.*1180A>C) c.1362A>C (p.Ser454=) c.1437A>C (p.Ser479=) c.1209A>C (p.Ser403=) | |
| 7 | g.107919235A>G | CA164259107 | DLD | c.1506A>G (p.Ser502=) c.*1180A>G (n.*1180A>G) c.1362A>G (p.Ser454=) c.1437A>G (p.Ser479=) c.1209A>G (p.Ser403=) | ClinVar dbSNP |
| 7 | g.107919235A>T | CA457109871 | DLD | c.1506A>T (p.Ser502=) c.*1180A>T (n.*1180A>T) c.1362A>T (p.Ser454=) c.1437A>T (p.Ser479=) c.1209A>T (p.Ser403=) | gnomAD v4 |
| 7 | g.107919236T>A | CA368859666 | DLD | c.1507T>A (p.Phe503Ile) c.*1181T>A (n.*1181T>A) c.1363T>A (p.Phe455Ile) c.1438T>A (p.Phe480Ile) c.1210T>A (p.Phe404Ile) | |
| 7 | g.107919236T>C | CA368859667 | DLD | c.1507T>C (p.Phe503Leu) c.*1181T>C (n.*1181T>C) c.1363T>C (p.Phe455Leu) c.1438T>C (p.Phe480Leu) c.1210T>C (p.Phe404Leu) | |
| 7 | g.107919236T>G | CA368859668 | DLD | c.1507T>G (p.Phe503Val) c.*1181T>G (n.*1181T>G) c.1363T>G (p.Phe455Val) c.1438T>G (p.Phe480Val) c.1210T>G (p.Phe404Val) | |
| 7 | g.107919237T>A | CA368859669 | DLD | c.1508T>A (p.Phe503Tyr) c.*1182T>A (n.*1182T>A) c.1364T>A (p.Phe455Tyr) c.1439T>A (p.Phe480Tyr) c.1211T>A (p.Phe404Tyr) | |
| 7 | g.107919237T>C | CA368859670 | DLD | c.1508T>C (p.Phe503Ser) c.*1182T>C (n.*1182T>C) c.1364T>C (p.Phe455Ser) c.1439T>C (p.Phe480Ser) c.1211T>C (p.Phe404Ser) | |
| 7 | g.107919237T>G | CA368859671 | DLD | c.1508T>G (p.Phe503Cys) c.*1182T>G (n.*1182T>G) c.1364T>G (p.Phe455Cys) c.1439T>G (p.Phe480Cys) c.1211T>G (p.Phe404Cys) | dbSNP gnomAD v4 |
| 7 | g.107919237T= | CA1732860814 | DLD | c.1508T= (p.Phe503=) c.*1182T= (n.*1182T=) c.1364T= (p.Phe455=) c.1439T= (p.Phe480=) c.1211T= (p.Phe404=) | |
| 7 | g.107919238T>A | CA368859672 | DLD | c.1509T>A (p.Phe503Leu) c.*1183T>A (n.*1183T>A) c.1365T>A (p.Phe455Leu) c.1440T>A (p.Phe480Leu) c.1212T>A (p.Phe404Leu) | |
| 7 | g.107919238T>C | CA457109872 | DLD | c.1509T>C (p.Phe503=) c.*1183T>C (n.*1183T>C) c.1365T>C (p.Phe455=) c.1440T>C (p.Phe480=) c.1212T>C (p.Phe404=) | |
| 7 | g.107919238T>G | CA368859673 | DLD | c.1509T>G (p.Phe503Leu) c.*1183T>G (n.*1183T>G) c.1365T>G (p.Phe455Leu) c.1440T>G (p.Phe480Leu) c.1212T>G (p.Phe404Leu) | |
| 7 | g.107919239G>A | CA368859676 | DLD | c.1510G>A (p.Gly504Ser) c.*1184G>A (n.*1184G>A) c.1366G>A (p.Gly456Ser) c.1441G>A (p.Gly481Ser) c.1213G>A (p.Gly405Ser) | gnomAD v4 |
| 7 | g.107919239G>C | CA368859674 | DLD | c.1510G>C (p.Gly504Arg) c.*1184G>C (n.*1184G>C) c.1366G>C (p.Gly456Arg) c.1441G>C (p.Gly481Arg) c.1213G>C (p.Gly405Arg) | |
| 7 | g.107919239G>T | CA368859675 | DLD | c.1510G>T (p.Gly504Cys) c.*1184G>T (n.*1184G>T) c.1366G>T (p.Gly456Cys) c.1441G>T (p.Gly481Cys) c.1213G>T (p.Gly405Cys) | |
| 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.107919240G>A | CA368859677 | DLD | c.1511G>A (p.Gly504Asp) c.*1185G>A (n.*1185G>A) c.1367G>A (p.Gly456Asp) c.1442G>A (p.Gly481Asp) c.1214G>A (p.Gly405Asp) | gnomAD v4 |
| 7 | g.107919240G>C | CA368859678 | DLD | c.1511G>C (p.Gly504Ala) c.*1185G>C (n.*1185G>C) c.1367G>C (p.Gly456Ala) c.1442G>C (p.Gly481Ala) c.1214G>C (p.Gly405Ala) | |
| 7 | g.107919240G>T | CA368859679 | DLD | c.1511G>T (p.Gly504Val) c.*1185G>T (n.*1185G>T) c.1367G>T (p.Gly456Val) c.1442G>T (p.Gly481Val) c.1214G>T (p.Gly405Val) | |
| 7 | g.107919241C>A | CA457109873 | DLD | c.1512C>A (p.Gly504=) c.*1186C>A (n.*1186C>A) c.1368C>A (p.Gly456=) c.1443C>A (p.Gly481=) c.1215C>A (p.Gly405=) | |
| 7 | g.107919241C>G | CA457109874 | DLD | c.1512C>G (p.Gly504=) c.*1186C>G (n.*1186C>G) c.1368C>G (p.Gly456=) c.1443C>G (p.Gly481=) c.1215C>G (p.Gly405=) | |
| 7 | g.107919241C>T | CA457109875 | DLD | c.1512C>T (p.Gly504=) c.*1186C>T (n.*1186C>T) c.1368C>T (p.Gly456=) c.1443C>T (p.Gly481=) c.1215C>T (p.Gly405=) | |
| 7 | g.107919242A= | CA1732860816 | DLD | c.1513A= (p.Lys505=) c.*1187A= (n.*1187A=) c.1369A= (p.Lys457=) c.1444A= (p.Lys482=) c.1216A= (p.Lys406=) | |
| 7 | g.107919242A>C | CA368859680 | DLD | c.1513A>C (p.Lys505Gln) c.*1187A>C (n.*1187A>C) c.1369A>C (p.Lys457Gln) c.1444A>C (p.Lys482Gln) c.1216A>C (p.Lys406Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107919242A>G | CA368859681 | DLD | c.1513A>G (p.Lys505Glu) c.*1187A>G (n.*1187A>G) c.1369A>G (p.Lys457Glu) c.1444A>G (p.Lys482Glu) c.1216A>G (p.Lys406Glu) | |
| 7 | g.107919242A>T | CA368859682 | DLD | c.1513A>T (p.Lys505Ter) c.*1187A>T (n.*1187A>T) c.1369A>T (p.Lys457Ter) c.1444A>T (p.Lys482Ter) c.1216A>T (p.Lys406Ter) | |
| 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?) | ClinVar 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) | ClinVar |
| 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) | |
| 7 | g.107919256T>A | CA368859712 | DLD | c.1527T>A (p.Phe509Leu) c.*1201T>A (n.*1201T>A) c.1383T>A (p.Phe461Leu) c.1458T>A (p.Phe486Leu) c.1230T>A (p.Phe410Leu) | |
| 7 | g.107919256T>C | CA457109890 | DLD | c.1527T>C (p.Phe509=) c.*1201T>C (n.*1201T>C) c.1383T>C (p.Phe461=) c.1458T>C (p.Phe486=) c.1230T>C (p.Phe410=) | ClinVar |
| 7 | g.107919256T>G | CA368859713 | DLD | c.1527T>G (p.Phe509Leu) c.*1201T>G (n.*1201T>G) c.1383T>G (p.Phe461Leu) c.1458T>G (p.Phe486Leu) c.1230T>G (p.Phe410Leu) | |
| 7 | g.107919257T>A | CA368859714 | DLD | c.1528T>A (p.Ter510Arg) c.*1202T>A (n.*1202T>A) c.1384T>A (p.Ter462Arg) c.1459T>A (p.Ter487Arg) c.1231T>A (p.Ter411Arg) | |
| 7 | g.107919257T>C | CA368859716 | DLD | c.1528T>C (p.Ter510Arg) c.*1202T>C (n.*1202T>C) c.1384T>C (p.Ter462Arg) c.1459T>C (p.Ter487Arg) c.1231T>C (p.Ter411Arg) | ClinVar dbSNP |
| 7 | g.107919257T>G | CA368859715 | DLD | c.1528T>G (p.Ter510Gly) c.*1202T>G (n.*1202T>G) c.1384T>G (p.Ter462Gly) c.1459T>G (p.Ter487Gly) c.1231T>G (p.Ter411Gly) | |
| 7 | g.107919257T= | CA1732860824 | DLD | c.1528T= (p.Ter510=) c.*1202T= (n.*1202T=) c.1384T= (p.Ter462=) c.1459T= (p.Ter487=) c.1231T= (p.Ter411=) | |
| 7 | g.107919258G>A | CA457109892 | DLD | c.1529G>A (p.Ter510=) c.*1203G>A (n.*1203G>A) c.1385G>A (p.Ter462=) c.1460G>A (p.Ter487=) c.1232G>A (p.Ter411=) | |
| 7 | g.107919258G>C | CA368859717 | DLD | c.1529G>C (p.Ter510Ser) c.*1203G>C (n.*1203G>C) c.1385G>C (p.Ter462Ser) c.1460G>C (p.Ter487Ser) c.1232G>C (p.Ter411Ser) | |
| 7 | g.107919258G>T | CA368859718 | DLD | c.1529G>T (p.Ter510Leu) c.*1203G>T (n.*1203G>T) c.1385G>T (p.Ter462Leu) c.1460G>T (p.Ter487Leu) c.1232G>T (p.Ter411Leu) | gnomAD v4 |
| 7 | g.107919259A>C | CA368859719 | DLD | c.1530A>C (p.Ter510Cys) c.*1204A>C (n.*1204A>C) c.1386A>C (p.Ter462Cys) c.1461A>C (p.Ter487Cys) c.1233A>C (p.Ter411Cys) | |
| 7 | g.107919259A>G | CA368859720 | DLD | c.1530A>G (p.Ter510Trp) c.*1204A>G (n.*1204A>G) c.1386A>G (p.Ter462Trp) c.1461A>G (p.Ter487Trp) c.1233A>G (p.Ter411Trp) | |
| 7 | g.107919259A>T | CA368859721 | DLD | c.1530A>T (p.Ter510Cys) c.*1204A>T (n.*1204A>T) c.1386A>T (p.Ter462Cys) c.1461A>T (p.Ter487Cys) c.1233A>T (p.Ter411Cys) | |
| 7 | g.107919260A>G | CA2684461124 | DLD | c.*1A>G (n.*1A>G) c.*1205A>G (n.*1205A>G) | gnomAD v4 |
| 7 | g.107919261T>C | CA4434740 | DLD | c.*2T>C (n.*2T>C) c.*1206T>C (n.*1206T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919261T>G | CA2684461132 | DLD | c.*2T>G (n.*2T>G) c.*1206T>G (n.*1206T>G) | gnomAD v4 |
| 7 | g.107919261T= | CA1732860825 | DLD | c.*2T= (n.*2T=) c.*1206T= (n.*1206T=) | |
| 7 | g.107919262_107919265delinsTAGA | CA1732860826 | DLD | c.*3_*6delinsTAGA (n.*3_*6delinsTAGA) c.*1207_*1210delinsTAGA (n.*1207_*1210delinsTAGA) | |
| 7 | g.107919263A= | CA1732860827 | DLD | c.*4A= (n.*4A=) c.*1208A= (n.*1208A=) | |
| 7 | g.107919263A>G | CA831211265 | DLD | c.*4A>G (n.*4A>G) c.*1208A>G (n.*1208A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107919266_107919268del | CA164259110 | DLD | c.*7_*9del (n.*7_*9del) c.*1211_*1213del (n.*1211_*1213del) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919264G>A | CA577039400 | DLD | c.*5G>A (n.*5G>A) c.*1209G>A (n.*1209G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919264G= | CA1732860828 | DLD | c.*5G= (n.*5G=) c.*1209G= (n.*1209G=) | |
| 7 | g.107919264G>T | CA1105645730 | DLD | c.*5G>T (n.*5G>T) c.*1209G>T (n.*1209G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107919266A>G | CA2684461139 | DLD | c.*7A>G (n.*7A>G) c.*1211A>G (n.*1211A>G) | gnomAD v4 |
| 7 | g.107919266_107919267delinsAG | CA1732860829 | DLD | c.*7_*8delinsAG (n.*7_*8delinsAG) c.*1211_*1212delinsAG (n.*1211_*1212delinsAG) | |
| 7 | g.107919267del | CA1105645742 | DLD | c.*8del (n.*8del) c.*1212del (n.*1212del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107919267G>T | CA2684461143 | DLD | c.*8G>T (n.*8G>T) c.*1212G>T (n.*1212G>T) | gnomAD v4 |
| 7 | g.107919270del | CA2684461147 | DLD | c.*11del (n.*11del) c.*1215del (n.*1215del) | gnomAD v4 |
| 7 | g.107919269_107919273delinsTTATA | CA1732860830 | DLD | c.*10_*14delinsTTATA (n.*10_*14delinsTTATA) c.*1214_*1218delinsTTATA (n.*1214_*1218delinsTTATA) | |
| 7 | g.107919270T>A | CA164259111 | DLD | c.*11T>A (n.*11T>A) c.*1215T>A (n.*1215T>A) | dbSNP gnomAD v4 |
| 7 | g.107919270T= | CA1732860831 | DLD | c.*11T= (n.*11T=) c.*1215T= (n.*1215T=) | |
| 7 | g.107919277_107919278del | CA4434741 | DLD | c.*18_*19del (n.*18_*19del) c.*1222_*1223del (n.*1222_*1223del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919275_107919278del | CA831211268 | DLD | c.*16_*19del (n.*16_*19del) c.*1220_*1223del (n.*1220_*1223del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107919271A>G | CA2578990248 | DLD | c.*12A>G (n.*12A>G) c.*1216A>G (n.*1216A>G) | gnomAD v4 |
| 7 | g.107919272T>C | CA577039401 | DLD | c.*13T>C (n.*13T>C) c.*1217T>C (n.*1217T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919272T>G | CA2578990249 | DLD | c.*13T>G (n.*13T>G) c.*1217T>G (n.*1217T>G) | gnomAD v4 |
| 7 | g.107919272T= | CA1732860832 | DLD | c.*13T= (n.*13T=) c.*1217T= (n.*1217T=) | |
| 7 | g.107919273del | CA2684461166 | DLD | c.*14del (n.*14del) c.*1218del (n.*1218del) | gnomAD v4 |
| 7 | g.107919273A= | CA1732860833 | DLD | c.*14A= (n.*14A=) c.*1218A= (n.*1218A=) | |
| 7 | g.107919273A>G | CA4434742 | DLD | c.*14A>G (n.*14A>G) c.*1218A>G (n.*1218A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919274T>A | CA457109893 | DLD | c.*15T>A (n.*15T>A) c.*1219T>A (n.*1219T>A) | |
| 7 | g.107919274T>C | CA2684461175 | DLD | c.*15T>C (n.*15T>C) c.*1219T>C (n.*1219T>C) | gnomAD v4 |
| 7 | g.107919274_107919275delinsTA | CA1732860834 | DLD | c.*15_*16delinsTA (n.*15_*16delinsTA) c.*1219_*1220delinsTA (n.*1219_*1220delinsTA) | |
| 7 | g.107919275del | CA577039402 | DLD | c.*16del (n.*16del) c.*1220del (n.*1220del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919275A= | CA1732860835 | DLD | c.*16A= (n.*16A=) c.*1220A= (n.*1220A=) | |
| 7 | g.107919275A>G | CA2684461178 | DLD | c.*16A>G (n.*16A>G) c.*1220A>G (n.*1220A>G) | gnomAD v4 |
| 7 | g.107919275A>T | CA4434744 | DLD | c.*16A>T (n.*16A>T) c.*1220A>T (n.*1220A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919275_107919277del | CA2684461177 | DLD | c.*16_*18del (n.*16_*18del) c.*1220_*1222del (n.*1220_*1222del) | gnomAD v4 |
| 7 | g.107919276T>C | CA4434745 | DLD | c.*17T>C (n.*17T>C) c.*1221T>C (n.*1221T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919276T= | CA1732860837 | DLD | c.*17T= (n.*17T=) c.*1221T= (n.*1221T=) | |
| 7 | g.107919276_107919277insTT | CA2684461188 | DLD | c.*17_*18insTT (n.*17_*18insTT) c.*1221_*1222insTT (n.*1221_*1222insTT) | gnomAD v4 |
| 7 | g.107919276dup | CA4434743 | DLD | c.*17dup (n.*17dup) c.*1221dup (n.*1221dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919276_107919277delinsTA | CA1732860836 | DLD | c.*17_*18delinsTA (n.*17_*18delinsTA) c.*1221_*1222delinsTA (n.*1221_*1222delinsTA) | |
| 7 | g.107919277del | CA312450 | DLD | c.*18del (n.*18del) c.*1222del (n.*1222del) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107919277A= | CA1630834911 | DLD | c.*18A= (n.*18A=) c.*1222A= (n.*1222A=) | |
| 7 | g.107919277A>C | CA2580765577 | DLD | c.*18A>C (n.*18A>C) c.*1222A>C (n.*1222A>C) | |
| 7 | g.107919277A>G | CA4434747 | DLD | c.*18A>G (n.*18A>G) c.*1222A>G (n.*1222A>G) | dbSNP ExAC |
| 7 | g.107919277A>T | CA290615 | DLD | c.*18A>T (n.*18A>T) c.*1222A>T (n.*1222A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919277_107919278insC | CA2684461211 | DLD | c.*18_*19insC (n.*18_*19insC) c.*1222_*1223insC (n.*1222_*1223insC) | gnomAD v4 |
| 7 | g.107919284dup | CA577039403 | DLD | c.*25dup (n.*25dup) c.*1229dup (n.*1229dup) | gnomAD v2 gnomAD v4 |
| 7 | g.107919283_107919284dup | CA4434746 | DLD | c.*24_*25dup (n.*24_*25dup) c.*1228_*1229dup (n.*1228_*1229dup) | dbSNP ExAC gnomAD v4 |
| 7 | g.107919284del | CA2578990250 | DLD | c.*25del (n.*25del) c.*1229del (n.*1229del) | gnomAD v4 |
| 7 | g.107919279T>A | CA4434748 | DLD | c.*20T>A (n.*20T>A) c.*1224T>A (n.*1224T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919279T= | CA1732860838 | DLD | c.*20T= (n.*20T=) c.*1224T= (n.*1224T=) | |
| 7 | g.107919280T>G | CA577039404 | DLD | c.*21T>G (n.*21T>G) c.*1225T>G (n.*1225T>G) | dbSNP gnomAD v2 |
| 7 | g.107919280T= | CA1732860839 | DLD | c.*21T= (n.*21T=) c.*1225T= (n.*1225T=) | |
| 7 | g.107919281_107919287delinsTTTTCTG | CA1732860840 | DLD | c.*22_*28delinsTTTTCTG (n.*22_*28delinsTTTTCTG) c.*1226_*1232delinsTTTTCTG (n.*1226_*1232delinsTTTTCTG) | |
| 7 | g.107919282_107919287del | CA1732860841 | DLD | c.*23_*28del (n.*23_*28del) c.*1227_*1232del (n.*1227_*1232del) | dbSNP gnomAD v4 |
| 7 | g.107919283T>C | CA1732860843 | DLD | c.*24T>C (n.*24T>C) c.*1228T>C (n.*1228T>C) | dbSNP |
| 7 | g.107919283T>G | CA2684461216 | DLD | c.*24T>G (n.*24T>G) c.*1228T>G (n.*1228T>G) | gnomAD v4 |
| 7 | g.107919283T= | CA1732860842 | DLD | c.*24T= (n.*24T=) c.*1228T= (n.*1228T=) | |
| 7 | g.107919284T>C | CA2684461218 | DLD | c.*25T>C (n.*25T>C) c.*1229T>C (n.*1229T>C) | gnomAD v4 |
| 7 | g.107919285C>A | CA2684461221 | DLD | c.*26C>A (n.*26C>A) c.*1230C>A (n.*1230C>A) | gnomAD v4 |
| 7 | g.107919285C>T | CA1105645762 | DLD | c.*26C>T (n.*26C>T) c.*1230C>T (n.*1230C>T) | gnomAD v3 gnomAD v4 |
| 7 | g.107919286T>A | CA2684461224 | DLD | c.*27T>A (n.*27T>A) c.*1231T>A (n.*1231T>A) | gnomAD v4 |
| 7 | g.107919287G>A | CA2580765578 | DLD | c.*28G>A (n.*28G>A) c.*1232G>A (n.*1232G>A) | |
| 7 | g.107919287G>C | CA2580765579 | DLD | c.*28G>C (n.*28G>C) c.*1232G>C (n.*1232G>C) | |
| 7 | g.107919287G= | CA1732860844 | DLD | c.*28G= (n.*28G=) c.*1232G= (n.*1232G=) | |
| 7 | g.107919287G>T | CA4434749 | DLD | c.*28G>T (n.*28G>T) c.*1232G>T (n.*1232G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919287_107919290del | CA1105645763 | DLD | c.*28_*31del (n.*28_*31del) c.*1232_*1235del (n.*1232_*1235del) | gnomAD v3 gnomAD v4 |
| 7 | g.107919288A>C | CA2684461231 | DLD | c.*29A>C (n.*29A>C) c.*1233A>C (n.*1233A>C) | gnomAD v4 |
| 7 | g.107919288A>G | CA651806514 | DLD | c.*29A>G (n.*29A>G) c.*1233A>G (n.*1233A>G) | COSMIC COSMIC COSMIC |
| 7 | g.107919289A>G | CA2684461234 | DLD | c.*30A>G (n.*30A>G) c.*1234A>G (n.*1234A>G) | gnomAD v4 |
| 7 | g.107919290A= | CA1732860845 | DLD | c.*31A= (n.*31A=) c.*1235A= (n.*1235A=) | |
| 7 | g.107919290A>G | CA1732860846 | DLD | c.*31A>G (n.*31A>G) c.*1235A>G (n.*1235A>G) | dbSNP |
| 7 | g.107919293_107919294insTTTT | CA1105645765 | DLD | c.*34_*35insTTTT (n.*34_*35insTTTT) c.*1238_*1239insTTTT (n.*1238_*1239insTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.107919292_107919293dup | CA2777357425 | DLD | c.*33_*34dup (n.*33_*34dup) c.*1237_*1238dup (n.*1237_*1238dup) | |
| 7 | g.107919292T>C | CA831211296 | DLD | c.*33T>C (n.*33T>C) c.*1237T>C (n.*1237T>C) | dbSNP |
| 7 | g.107919292T= | CA1732860847 | DLD | c.*33T= (n.*33T=) c.*1237T= (n.*1237T=) | |
| 7 | g.107919298_107919324del | CA2684461237 | DLD | c.*39_*65del (n.*39_*65del) c.*1243_*1269del (n.*1243_*1269del) | gnomAD v4 |
| 7 | g.107919293T>C | CA2684461238 | DLD | c.*34T>C (n.*34T>C) c.*1238T>C (n.*1238T>C) | gnomAD v4 |
| 7 | g.107919295C>A | CA2684461239 | DLD | c.*36C>A (n.*36C>A) c.*1240C>A (n.*1240C>A) | gnomAD v4 |
| 7 | g.107919295C>T | CA2684461242 | DLD | c.*36C>T (n.*36C>T) c.*1240C>T (n.*1240C>T) | gnomAD v4 |
| 7 | g.107919297G>A | CA2684461244 | DLD | c.*38G>A (n.*38G>A) c.*1242G>A (n.*1242G>A) | gnomAD v4 |
| 7 | g.107919297G>T | CA2684461245 | DLD | c.*38G>T (n.*38G>T) c.*1242G>T (n.*1242G>T) | gnomAD v4 |
| 7 | g.107919297_107919299del | CA2777357426 | DLD | c.*38_*40del (n.*38_*40del) c.*1242_*1244del (n.*1242_*1244del) | |
| 7 | g.107919298G>T | CA2684461247 | DLD | c.*39G>T (n.*39G>T) c.*1243G>T (n.*1243G>T) | gnomAD v4 |
| 7 | g.107919299G>T | CA2684461249 | DLD | c.*40G>T (n.*40G>T) c.*1244G>T (n.*1244G>T) | gnomAD v4 |
| 7 | g.107919301del | CA2777357427 | DLD | c.*42del (n.*42del) c.*1246del (n.*1246del) | |
| 7 | g.107919301G>A | CA577039405 | DLD | c.*42G>A (n.*42G>A) c.*1246G>A (n.*1246G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919301G>C | CA2684461263 | DLD | c.*42G>C (n.*42G>C) c.*1246G>C (n.*1246G>C) | gnomAD v4 |
| 7 | g.107919301G= | CA1732860848 | DLD | c.*42G= (n.*42G=) c.*1246G= (n.*1246G=) | |
| 7 | g.107919301G>T | CA2684461265 | DLD | c.*42G>T (n.*42G>T) c.*1246G>T (n.*1246G>T) | gnomAD v4 |
| 7 | g.107919301_107919302delinsGC | CA1732860849 | DLD | c.*42_*43delinsGC (n.*42_*43delinsGC) c.*1246_*1247delinsGC (n.*1246_*1247delinsGC) | |
| 7 | g.107919302del | CA1105645767 | DLD | c.*43del (n.*43del) c.*1247del (n.*1247del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107919302C>A | CA2684461271 | DLD | c.*43C>A (n.*43C>A) c.*1247C>A (n.*1247C>A) | gnomAD v4 |
| 7 | g.107919303T>A | CA1105645768 | DLD | c.*44T>A (n.*44T>A) c.*1248T>A (n.*1248T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107919303T= | CA1732860850 | DLD | c.*44T= (n.*44T=) c.*1248T= (n.*1248T=) | |
| 7 | g.107919306del | CA2684461273 | DLD | c.*47del (n.*47del) c.*1251del (n.*1251del) | gnomAD v4 |
| 7 | g.107919304T>C | CA2684461275 | DLD | c.*45T>C (n.*45T>C) c.*1249T>C (n.*1249T>C) | gnomAD v4 |
| 7 | g.107919305T>C | CA577039406 | DLD | c.*46T>C (n.*46T>C) c.*1250T>C (n.*1250T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919305T= | CA1732860851 | DLD | c.*46T= (n.*46T=) c.*1250T= (n.*1250T=) | |
| 7 | g.107919307G>A | CA577039407 | DLD | c.*48G>A (n.*48G>A) c.*1252G>A (n.*1252G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919307G= | CA1732860852 | DLD | c.*48G= (n.*48G=) c.*1252G= (n.*1252G=) | |
| 7 | g.107919307G>T | CA2684461278 | DLD | c.*48G>T (n.*48G>T) c.*1252G>T (n.*1252G>T) | gnomAD v4 |
| 7 | g.107919308T>C | CA1732860854 | DLD | c.*49T>C (n.*49T>C) c.*1253T>C (n.*1253T>C) | dbSNP |
| 7 | g.107919308T= | CA1732860853 | DLD | c.*49T= (n.*49T=) c.*1253T= (n.*1253T=) | |
| 7 | g.107919309A= | CA1732860855 | DLD | c.*50A= (n.*50A=) c.*1254A= (n.*1254A=) | |
| 7 | g.107919309A>G | CA164259118 | DLD | c.*50A>G (n.*50A>G) c.*1254A>G (n.*1254A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107919310G>T | CA2684461285 | DLD | c.*51G>T (n.*51G>T) c.*1255G>T (n.*1255G>T) | gnomAD v4 |
| 7 | g.107919311A>C | CA2568809025 | DLD | c.*52A>C (n.*52A>C) c.*1256A>C (n.*1256A>C) | |
| 7 | g.107919312A>G | CA2533667444 | DLD | c.*53A>G (n.*53A>G) c.*1257A>G (n.*1257A>G) | |
| 7 | g.107919312A>T | CA2684461287 | DLD | c.*53A>T (n.*53A>T) c.*1257A>T (n.*1257A>T) | gnomAD v4 |
| 7 | g.107919313G>T | CA2684461289 | DLD | c.*54G>T (n.*54G>T) c.*1258G>T (n.*1258G>T) | gnomAD v4 |
| 7 | g.107919314T>A | CA2684461291 | DLD | c.*55T>A (n.*55T>A) c.*1259T>A (n.*1259T>A) | gnomAD v4 |
| 7 | g.107919314T>G | CA2684461292 | DLD | c.*55T>G (n.*55T>G) c.*1259T>G (n.*1259T>G) | gnomAD v4 |
| 7 | g.107919315C>A | CA2684461293 | DLD | c.*56C>A (n.*56C>A) c.*1260C>A (n.*1260C>A) | gnomAD v4 |
| 7 | g.107919315C>T | CA2684461296 | DLD | c.*56C>T (n.*56C>T) c.*1260C>T (n.*1260C>T) | gnomAD v4 |
| 7 | g.107919316A>G | CA2578990251 | DLD | c.*57A>G (n.*57A>G) c.*1261A>G (n.*1261A>G) | gnomAD v4 |
| 7 | g.107919318A>G | CA2684461315 | DLD | c.*59A>G (n.*59A>G) c.*1263A>G (n.*1263A>G) | dbSNP gnomAD v4 |