Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.108209763_108209764dup | CA7043673 | LIG4 | c.1311_1312dup (p.Arg438LeufsTer9) c.1512_1513dup (p.Arg505LeufsTer9) c.1548_1549dup (p.Arg517LeufsTer9) c.1524_1525dup (p.Arg509LeufsTer9) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209763_108209764del | CA256181280 | LIG4 | c.1311_1312del (p.Arg438CysfsTer12) c.1512_1513del (p.Arg505CysfsTer12) c.1548_1549del (p.Arg517CysfsTer12) c.1524_1525del (p.Arg509CysfsTer12) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
13 | g.108209761_108209764del | CA960045517 | LIG4 | c.1309_1312del (p.Ser437ValfsTer8) c.1510_1513del (p.Ser504ValfsTer8) c.1546_1549del (p.Ser516ValfsTer8) c.1522_1525del (p.Ser508ValfsTer8) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209763A= | CA2117794343 | LIG4 | c.1305T= (p.Thr435=) c.1506T= (p.Thr502=) c.1542T= (p.Thr514=) c.1518T= (p.Thr506=) | |
13 | g.108209763A>C | CA484975506 | LIG4 | c.1305T>G (p.Thr435=) c.1506T>G (p.Thr502=) c.1542T>G (p.Thr514=) c.1518T>G (p.Thr506=) | |
13 | g.108209763A>G | CA7043676 | LIG4 | c.1305T>C (p.Thr435=) c.1506T>C (p.Thr502=) c.1542T>C (p.Thr514=) c.1518T>C (p.Thr506=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209763A>T | CA484975508 | LIG4 | c.1305T>A (p.Thr435=) c.1506T>A (p.Thr502=) c.1542T>A (p.Thr514=) c.1518T>A (p.Thr506=) | |
13 | g.108209764G>A | CA388617046 | LIG4 | c.1304C>T (p.Thr435Ile) c.1505C>T (p.Thr502Ile) c.1541C>T (p.Thr514Ile) c.1517C>T (p.Thr506Ile) | |
13 | g.108209764G>C | CA388617047 | LIG4 | c.1304C>G (p.Thr435Ser) c.1505C>G (p.Thr502Ser) c.1541C>G (p.Thr514Ser) c.1517C>G (p.Thr506Ser) | |
13 | g.108209764G>T | CA388617048 | LIG4 | c.1304C>A (p.Thr435Asn) c.1505C>A (p.Thr502Asn) c.1541C>A (p.Thr514Asn) c.1517C>A (p.Thr506Asn) | |
13 | g.108209765T>A | CA388617049 | LIG4 | c.1303A>T (p.Thr435Ser) c.1504A>T (p.Thr502Ser) c.1540A>T (p.Thr514Ser) c.1516A>T (p.Thr506Ser) | |
13 | g.108209765T>C | CA388617050 | LIG4 | c.1303A>G (p.Thr435Ala) c.1504A>G (p.Thr502Ala) c.1540A>G (p.Thr514Ala) c.1516A>G (p.Thr506Ala) | gnomAD v4 |
13 | g.108209765T>G | CA388617051 | LIG4 | c.1303A>C (p.Thr435Pro) c.1504A>C (p.Thr502Pro) c.1540A>C (p.Thr514Pro) c.1516A>C (p.Thr506Pro) | |
13 | g.108209766A= | CA2117794344 | LIG4 | c.1302T= (p.His434=) c.1503T= (p.His501=) c.1539T= (p.His513=) c.1515T= (p.His505=) | |
13 | g.108209766A>C | CA388617053 | LIG4 | c.1302T>G (p.His434Gln) c.1503T>G (p.His501Gln) c.1539T>G (p.His513Gln) c.1515T>G (p.His505Gln) | |
13 | g.108209766A>G | CA7043677 | LIG4 | c.1302T>C (p.His434=) c.1503T>C (p.His501=) c.1539T>C (p.His513=) c.1515T>C (p.His505=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209766A>T | CA388617056 | LIG4 | c.1302T>A (p.His434Gln) c.1503T>A (p.His501Gln) c.1539T>A (p.His513Gln) c.1515T>A (p.His505Gln) | |
13 | g.108209767T>A | CA388617058 | LIG4 | c.1301A>T (p.His434Leu) c.1502A>T (p.His501Leu) c.1538A>T (p.His513Leu) c.1514A>T (p.His505Leu) | |
13 | g.108209767T>C | CA7043678 | LIG4 | c.1301A>G (p.His434Arg) c.1502A>G (p.His501Arg) c.1538A>G (p.His513Arg) c.1514A>G (p.His505Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209767T>G | CA388617060 | LIG4 | c.1301A>C (p.His434Pro) c.1502A>C (p.His501Pro) c.1538A>C (p.His513Pro) c.1514A>C (p.His505Pro) | |
13 | g.108209767T= | CA2117794345 | LIG4 | c.1301A= (p.His434=) c.1502A= (p.His501=) c.1538A= (p.His513=) c.1514A= (p.His505=) | |
13 | g.108209768G>A | CA7043679 | LIG4 | c.1300C>T (p.His434Tyr) c.1501C>T (p.His501Tyr) c.1537C>T (p.His513Tyr) c.1513C>T (p.His505Tyr) | dbSNP ExAC gnomAD v2 COSMIC |
13 | g.108209768G>C | CA388617064 | LIG4 | c.1300C>G (p.His434Asp) c.1501C>G (p.His501Asp) c.1537C>G (p.His513Asp) c.1513C>G (p.His505Asp) | |
13 | g.108209768G= | CA2117794346 | LIG4 | c.1300C= (p.His434=) c.1501C= (p.His501=) c.1537C= (p.His513=) c.1513C= (p.His505=) | |
13 | g.108209768G>T | CA388617062 | LIG4 | c.1300C>A (p.His434Asn) c.1501C>A (p.His501Asn) c.1537C>A (p.His513Asn) c.1513C>A (p.His505Asn) | |
13 | g.108209768_108209769delinsGA | CA2117794347 | LIG4 | c.1299_1300delinsTC (p.Phe433=) c.1500_1501delinsTC (p.Phe500=) c.1536_1537delinsTC (p.Phe512=) c.1512_1513delinsTC (p.Phe504=) | |
13 | g.108209769A>C | CA388617066 | LIG4 | c.1299T>G (p.Phe433Leu) c.1500T>G (p.Phe500Leu) c.1536T>G (p.Phe512Leu) c.1512T>G (p.Phe504Leu) | |
13 | g.108209769A>G | CA484975516 | LIG4 | c.1299T>C (p.Phe433=) c.1500T>C (p.Phe500=) c.1536T>C (p.Phe512=) c.1512T>C (p.Phe504=) | |
13 | g.108209769A>T | CA388617072 | LIG4 | c.1299T>A (p.Phe433Leu) c.1500T>A (p.Phe500Leu) c.1536T>A (p.Phe512Leu) c.1512T>A (p.Phe504Leu) | |
13 | g.108209771del | CA2117794348 | LIG4 | c.1299del (p.His434IlefsTer12) c.1500del (p.His501IlefsTer12) c.1536del (p.His513IlefsTer12) c.1512del (p.His505IlefsTer12) | dbSNP |
13 | g.108209770A= | CA2117794349 | LIG4 | c.1298T= (p.Phe433=) c.1499T= (p.Phe500=) c.1535T= (p.Phe512=) c.1511T= (p.Phe504=) | |
13 | g.108209770A>C | CA388617074 | LIG4 | c.1298T>G (p.Phe433Cys) c.1499T>G (p.Phe500Cys) c.1535T>G (p.Phe512Cys) c.1511T>G (p.Phe504Cys) | |
13 | g.108209770A>G | CA7043680 | LIG4 | c.1298T>C (p.Phe433Ser) c.1499T>C (p.Phe500Ser) c.1535T>C (p.Phe512Ser) c.1511T>C (p.Phe504Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209770A>T | CA388617076 | LIG4 | c.1298T>A (p.Phe433Tyr) c.1499T>A (p.Phe500Tyr) c.1535T>A (p.Phe512Tyr) c.1511T>A (p.Phe504Tyr) | |
13 | g.108209771A>C | CA388617077 | LIG4 | c.1297T>G (p.Phe433Val) c.1498T>G (p.Phe500Val) c.1534T>G (p.Phe512Val) c.1510T>G (p.Phe504Val) | |
13 | g.108209771A>G | CA388617078 | LIG4 | c.1297T>C (p.Phe433Leu) c.1498T>C (p.Phe500Leu) c.1534T>C (p.Phe512Leu) c.1510T>C (p.Phe504Leu) | |
13 | g.108209771A>T | CA388617080 | LIG4 | c.1297T>A (p.Phe433Ile) c.1498T>A (p.Phe500Ile) c.1534T>A (p.Phe512Ile) c.1510T>A (p.Phe504Ile) | |
13 | g.108209772C>A | CA484975522 | LIG4 | c.1296G>T (p.Val432=) c.1497G>T (p.Val499=) c.1533G>T (p.Val511=) c.1509G>T (p.Val503=) | |
13 | g.108209772C>G | CA484975523 | LIG4 | c.1296G>C (p.Val432=) c.1497G>C (p.Val499=) c.1533G>C (p.Val511=) c.1509G>C (p.Val503=) | |
13 | g.108209772C>T | CA484975524 | LIG4 | c.1296G>A (p.Val432=) c.1497G>A (p.Val499=) c.1533G>A (p.Val511=) c.1509G>A (p.Val503=) | |
13 | g.108209773A= | CA2117794350 | LIG4 | c.1295T= (p.Val432=) c.1496T= (p.Val499=) c.1532T= (p.Val511=) c.1508T= (p.Val503=) | |
13 | g.108209773A>C | CA388617081 | LIG4 | c.1295T>G (p.Val432Gly) c.1496T>G (p.Val499Gly) c.1532T>G (p.Val511Gly) c.1508T>G (p.Val503Gly) | |
13 | g.108209773A>G | CA7043681 | LIG4 | c.1295T>C (p.Val432Ala) c.1496T>C (p.Val499Ala) c.1532T>C (p.Val511Ala) c.1508T>C (p.Val503Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209773A>T | CA388617083 | LIG4 | c.1295T>A (p.Val432Glu) c.1496T>A (p.Val499Glu) c.1532T>A (p.Val511Glu) c.1508T>A (p.Val503Glu) | |
13 | g.108209774C>A | CA388617086 | LIG4 | c.1294G>T (p.Val432Leu) c.1495G>T (p.Val499Leu) c.1531G>T (p.Val511Leu) c.1507G>T (p.Val503Leu) | |
13 | g.108209774C= | CA2117794351 | LIG4 | c.1294G= (p.Val432=) c.1495G= (p.Val499=) c.1531G= (p.Val511=) c.1507G= (p.Val503=) | |
13 | g.108209774C>G | CA388617088 | LIG4 | c.1294G>C (p.Val432Leu) c.1495G>C (p.Val499Leu) c.1531G>C (p.Val511Leu) c.1507G>C (p.Val503Leu) | |
13 | g.108209774C>T | CA7043682 | LIG4 | c.1294G>A (p.Val432Met) c.1495G>A (p.Val499Met) c.1531G>A (p.Val511Met) c.1507G>A (p.Val503Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209775A>C | CA484975529 | LIG4 | c.1293T>G (p.Ser431=) c.1494T>G (p.Ser498=) c.1530T>G (p.Ser510=) c.1506T>G (p.Ser502=) | |
13 | g.108209775A>G | CA484975530 | LIG4 | c.1293T>C (p.Ser431=) c.1494T>C (p.Ser498=) c.1530T>C (p.Ser510=) c.1506T>C (p.Ser502=) |