Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112821894_112829116delCA2499217432APCc.1313-2_1743+144del
c.1259-2_1689+144del
c.*635-2_*1065+144del
c.1313-2_1797+144del
c.1343-2_1773+144del
c.1238-2_1668+144del
c.1229-2_1659+144del
c.1136-2_1620+144del
c.1136-2_1566+144del
c.1040-2_1470+144del
c.1010-2_1440+144del
c.935-2_1365+144del
c.833-2_1263+144del
c.464-2_894+144del
ClinVar
5g.112827106_112827326delCA2499217438APCc.1409-2_1548+79del
n.96+5115_96+5335del
n.98-2_237+79del
c.1355-2_1494+79del
c.*731-2_*870+79del
c.1463-2_1602+79del
c.1439-2_1578+79del
c.1334-2_1473+79del
c.1325-2_1464+79del
c.1286-2_1425+79del
c.1232-2_1371+79del
c.1136-2_1275+79del
c.1106-2_1245+79del
c.1031-2_1170+79del
c.929-2_1068+79del
c.560-2_699+79del
ClinVar
5g.112827157T>ACA16024499APCc.1458T>A (p.Tyr486Ter)
n.96+5166T>A
n.147T>A (p.Tyr49Ter)
c.1404T>A (p.Tyr468Ter)
c.*780T>A (n.*780T>A)
c.1512T>A (p.Tyr504Ter)
c.1488T>A (p.Tyr496Ter)
c.1383T>A (p.Tyr461Ter)
c.1374T>A (p.Tyr458Ter)
c.1335T>A (p.Tyr445Ter)
c.1281T>A (p.Tyr427Ter)
c.1185T>A (p.Tyr395Ter)
c.1155T>A (p.Tyr385Ter)
c.1080T>A (p.Tyr360Ter)
c.978T>A (p.Tyr326Ter)
c.609T>A (p.Tyr203Ter)
5g.112827157T>CCA005169APCc.1458T>C (p.Tyr486=)
n.96+5166T>C
n.147T>C (p.Tyr49=)
c.1404T>C (p.Tyr468=)
c.*780T>C (n.*780T>C)
c.1512T>C (p.Tyr504=)
c.1488T>C (p.Tyr496=)
c.1383T>C (p.Tyr461=)
c.1374T>C (p.Tyr458=)
c.1335T>C (p.Tyr445=)
c.1281T>C (p.Tyr427=)
c.1185T>C (p.Tyr395=)
c.1155T>C (p.Tyr385=)
c.1080T>C (p.Tyr360=)
c.978T>C (p.Tyr326=)
c.609T>C (p.Tyr203=)
ClinVar dbSNP ExAC gnomAD
5g.112827157T>GCA16024500APCc.1458T>G (p.Tyr486Ter)
n.96+5166T>G
n.147T>G (p.Tyr49Ter)
c.1404T>G (p.Tyr468Ter)
c.*780T>G (n.*780T>G)
c.1512T>G (p.Tyr504Ter)
c.1488T>G (p.Tyr496Ter)
c.1383T>G (p.Tyr461Ter)
c.1374T>G (p.Tyr458Ter)
c.1335T>G (p.Tyr445Ter)
c.1281T>G (p.Tyr427Ter)
c.1185T>G (p.Tyr395Ter)
c.1155T>G (p.Tyr385Ter)
c.1080T>G (p.Tyr360Ter)
c.978T>G (p.Tyr326Ter)
c.609T>G (p.Tyr203Ter)
ClinVar
5g.112827157T=CA1573505216APCc.1458T= (p.Tyr486=)
n.96+5166T=
n.147T= (p.Tyr49=)
c.1404T= (p.Tyr468=)
c.*780T= (n.*780T=)
c.1512T= (p.Tyr504=)
c.1488T= (p.Tyr496=)
c.1383T= (p.Tyr461=)
c.1374T= (p.Tyr458=)
c.1335T= (p.Tyr445=)
c.1281T= (p.Tyr427=)
c.1185T= (p.Tyr395=)
c.1155T= (p.Tyr385=)
c.1080T= (p.Tyr360=)
c.978T= (p.Tyr326=)
c.609T= (p.Tyr203=)
5g.112827157_112827158delinsCACA658683405APCc.1458_1459delinsCA (p.Gly487Arg)
n.96+5166_96+5167delinsCA
n.147_148delinsCA (p.Gly50Arg)
c.1404_1405delinsCA (p.Gly469Arg)
c.*780_*781delinsCA (n.*780_*781delinsCA)
c.1512_1513delinsCA (p.Gly505Arg)
c.1488_1489delinsCA (p.Gly497Arg)
c.1383_1384delinsCA (p.Gly462Arg)
c.1374_1375delinsCA (p.Gly459Arg)
c.1335_1336delinsCA (p.Gly446Arg)
c.1281_1282delinsCA (p.Gly428Arg)
c.1185_1186delinsCA (p.Gly396Arg)
c.1155_1156delinsCA (p.Gly386Arg)
c.1080_1081delinsCA (p.Gly361Arg)
c.978_979delinsCA (p.Gly327Arg)
c.609_610delinsCA (p.Gly204Arg)
ClinVar
5g.112827157_112827159delinsCGACA658683406APCc.1458_1460delinsCGA (p.Gly487Glu)
n.96+5166_96+5168delinsCGA
n.147_149delinsCGA (p.Gly50Glu)
c.1404_1406delinsCGA (p.Gly469Glu)
c.*780_*782delinsCGA (n.*780_*782delinsCGA)
c.1512_1514delinsCGA (p.Gly505Glu)
c.1488_1490delinsCGA (p.Gly497Glu)
c.1383_1385delinsCGA (p.Gly462Glu)
c.1374_1376delinsCGA (p.Gly459Glu)
c.1335_1337delinsCGA (p.Gly446Glu)
c.1281_1283delinsCGA (p.Gly428Glu)
c.1185_1187delinsCGA (p.Gly396Glu)
c.1155_1157delinsCGA (p.Gly386Glu)
c.1080_1082delinsCGA (p.Gly361Glu)
c.978_980delinsCGA (p.Gly327Glu)
c.609_611delinsCGA (p.Gly204Glu)
ClinVar dbSNP
5g.112827157_112827159delinsTGGCA1573505212APCc.1458_1460delinsTGG (p.Tyr486=)
n.96+5166_96+5168delinsTGG
n.147_149delinsTGG (p.Tyr49=)
c.1404_1406delinsTGG (p.Tyr468=)
c.*780_*782delinsTGG (n.*780_*782delinsTGG)
c.1512_1514delinsTGG (p.Tyr504=)
c.1488_1490delinsTGG (p.Tyr496=)
c.1383_1385delinsTGG (p.Tyr461=)
c.1374_1376delinsTGG (p.Tyr458=)
c.1335_1337delinsTGG (p.Tyr445=)
c.1281_1283delinsTGG (p.Tyr427=)
c.1185_1187delinsTGG (p.Tyr395=)
c.1155_1157delinsTGG (p.Tyr385=)
c.1080_1082delinsTGG (p.Tyr360=)
c.978_980delinsTGG (p.Tyr326=)
c.609_611delinsTGG (p.Tyr203=)
5g.112827158G>ACA16024501APCc.1459G>A (p.Gly487Arg)
n.96+5167G>A
n.148G>A (p.Gly50Arg)
c.1405G>A (p.Gly469Arg)
c.*781G>A (n.*781G>A)
c.1513G>A (p.Gly505Arg)
c.1489G>A (p.Gly497Arg)
c.1384G>A (p.Gly462Arg)
c.1375G>A (p.Gly459Arg)
c.1336G>A (p.Gly446Arg)
c.1282G>A (p.Gly428Arg)
c.1186G>A (p.Gly396Arg)
c.1156G>A (p.Gly386Arg)
c.1081G>A (p.Gly361Arg)
c.979G>A (p.Gly327Arg)
c.610G>A (p.Gly204Arg)
ClinVar
5g.112827158G>CCA16024502APCc.1459G>C (p.Gly487Arg)
n.96+5167G>C
n.148G>C (p.Gly50Arg)
c.1405G>C (p.Gly469Arg)
c.*781G>C (n.*781G>C)
c.1513G>C (p.Gly505Arg)
c.1489G>C (p.Gly497Arg)
c.1384G>C (p.Gly462Arg)
c.1375G>C (p.Gly459Arg)
c.1336G>C (p.Gly446Arg)
c.1282G>C (p.Gly428Arg)
c.1186G>C (p.Gly396Arg)
c.1156G>C (p.Gly386Arg)
c.1081G>C (p.Gly361Arg)
c.979G>C (p.Gly327Arg)
c.610G>C (p.Gly204Arg)
ClinVar
5g.112827158G=CA1573505233APCc.1459G= (p.Gly487=)
n.96+5167G=
n.148G= (p.Gly50=)
c.1405G= (p.Gly469=)
c.*781G= (n.*781G=)
c.1513G= (p.Gly505=)
c.1489G= (p.Gly497=)
c.1384G= (p.Gly462=)
c.1375G= (p.Gly459=)
c.1336G= (p.Gly446=)
c.1282G= (p.Gly428=)
c.1186G= (p.Gly396=)
c.1156G= (p.Gly386=)
c.1081G= (p.Gly361=)
c.979G= (p.Gly327=)
c.610G= (p.Gly204=)
5g.112827158G>TCA16024503APCc.1459G>T (p.Gly487Trp)
n.96+5167G>T
n.148G>T (p.Gly50Trp)
c.1405G>T (p.Gly469Trp)
c.*781G>T (n.*781G>T)
c.1513G>T (p.Gly505Trp)
c.1489G>T (p.Gly497Trp)
c.1384G>T (p.Gly462Trp)
c.1375G>T (p.Gly459Trp)
c.1336G>T (p.Gly446Trp)
c.1282G>T (p.Gly428Trp)
c.1186G>T (p.Gly396Trp)
c.1156G>T (p.Gly386Trp)
c.1081G>T (p.Gly361Trp)
c.979G>T (p.Gly327Trp)
c.610G>T (p.Gly204Trp)
COSMIC
5g.112827158delinsCACA913187317APCc.1459delinsCA (p.Gly487GlnfsTer4)
n.96+5167delinsCA
n.148delinsCA (p.Gly50GlnfsTer4)
c.1405delinsCA (p.Gly469GlnfsTer4)
c.*781delinsCA (n.*781delinsCA)
c.1513delinsCA (p.Gly505GlnfsTer4)
c.1489delinsCA (p.Gly497GlnfsTer4)
c.1384delinsCA (p.Gly462GlnfsTer4)
c.1375delinsCA (p.Gly459GlnfsTer4)
c.1336delinsCA (p.Gly446GlnfsTer4)
c.1282delinsCA (p.Gly428GlnfsTer4)
c.1186delinsCA (p.Gly396GlnfsTer4)
c.1156delinsCA (p.Gly386GlnfsTer4)
c.1081delinsCA (p.Gly361GlnfsTer4)
c.979delinsCA (p.Gly327GlnfsTer4)
c.610delinsCA (p.Gly204GlnfsTer4)
5g.112827160delCA658760451APCc.1461del (p.Thr489LeufsTer9)
n.96+5169del
n.150del (p.Thr52LeufsTer9)
c.1407del (p.Thr471LeufsTer9)
c.*783del (n.*783del)
c.1515del (p.Thr507LeufsTer9)
c.1491del (p.Thr499LeufsTer9)
c.1386del (p.Thr464LeufsTer9)
c.1377del (p.Thr461LeufsTer9)
c.1338del (p.Thr448LeufsTer9)
c.1284del (p.Thr430LeufsTer9)
c.1188del (p.Thr398LeufsTer9)
c.1158del (p.Thr388LeufsTer9)
c.1083del (p.Thr363LeufsTer9)
c.981del (p.Thr329LeufsTer9)
c.612del (p.Thr206LeufsTer9)
5g.112827159G>ACA16024504APCc.1460G>A (p.Gly487Glu)
n.96+5168G>A
n.149G>A (p.Gly50Glu)
c.1406G>A (p.Gly469Glu)
c.*782G>A (n.*782G>A)
c.1514G>A (p.Gly505Glu)
c.1490G>A (p.Gly497Glu)
c.1385G>A (p.Gly462Glu)
c.1376G>A (p.Gly459Glu)
c.1337G>A (p.Gly446Glu)
c.1283G>A (p.Gly428Glu)
c.1187G>A (p.Gly396Glu)
c.1157G>A (p.Gly386Glu)
c.1082G>A (p.Gly361Glu)
c.980G>A (p.Gly327Glu)
c.611G>A (p.Gly204Glu)
ClinVar
5g.112827159G>CCA16024505APCc.1460G>C (p.Gly487Ala)
n.96+5168G>C
n.149G>C (p.Gly50Ala)
c.1406G>C (p.Gly469Ala)
c.*782G>C (n.*782G>C)
c.1514G>C (p.Gly505Ala)
c.1490G>C (p.Gly497Ala)
c.1385G>C (p.Gly462Ala)
c.1376G>C (p.Gly459Ala)
c.1337G>C (p.Gly446Ala)
c.1283G>C (p.Gly428Ala)
c.1187G>C (p.Gly396Ala)
c.1157G>C (p.Gly386Ala)
c.1082G>C (p.Gly361Ala)
c.980G>C (p.Gly327Ala)
c.611G>C (p.Gly204Ala)
5g.112827159G=CA1573505238APCc.1460G= (p.Gly487=)
n.96+5168G=
n.149G= (p.Gly50=)
c.1406G= (p.Gly469=)
c.*782G= (n.*782G=)
c.1514G= (p.Gly505=)
c.1490G= (p.Gly497=)
c.1385G= (p.Gly462=)
c.1376G= (p.Gly459=)
c.1337G= (p.Gly446=)
c.1283G= (p.Gly428=)
c.1187G= (p.Gly396=)
c.1157G= (p.Gly386=)
c.1082G= (p.Gly361=)
c.980G= (p.Gly327=)
c.611G= (p.Gly204=)
5g.112827159G>TCA16024506APCc.1460G>T (p.Gly487Val)
n.96+5168G>T
n.149G>T (p.Gly50Val)
c.1406G>T (p.Gly469Val)
c.*782G>T (n.*782G>T)
c.1514G>T (p.Gly505Val)
c.1490G>T (p.Gly497Val)
c.1385G>T (p.Gly462Val)
c.1376G>T (p.Gly459Val)
c.1337G>T (p.Gly446Val)
c.1283G>T (p.Gly428Val)
c.1187G>T (p.Gly396Val)
c.1157G>T (p.Gly386Val)
c.1082G>T (p.Gly361Val)
c.980G>T (p.Gly327Val)
c.611G>T (p.Gly204Val)
5g.112827160G>ACA445755919APCc.1461G>A (p.Gly487=)
n.96+5169G>A
n.150G>A (p.Gly50=)
c.1407G>A (p.Gly469=)
c.*783G>A (n.*783G>A)
c.1515G>A (p.Gly505=)
c.1491G>A (p.Gly497=)
c.1386G>A (p.Gly462=)
c.1377G>A (p.Gly459=)
c.1338G>A (p.Gly446=)
c.1284G>A (p.Gly428=)
c.1188G>A (p.Gly396=)
c.1158G>A (p.Gly386=)
c.1083G>A (p.Gly361=)
c.981G>A (p.Gly327=)
c.612G>A (p.Gly204=)
ClinVar
5g.112827160G>CCA445755920APCc.1461G>C (p.Gly487=)
n.96+5169G>C
n.150G>C (p.Gly50=)
c.1407G>C (p.Gly469=)
c.*783G>C (n.*783G>C)
c.1515G>C (p.Gly505=)
c.1491G>C (p.Gly497=)
c.1386G>C (p.Gly462=)
c.1377G>C (p.Gly459=)
c.1338G>C (p.Gly446=)
c.1284G>C (p.Gly428=)
c.1188G>C (p.Gly396=)
c.1158G>C (p.Gly386=)
c.1083G>C (p.Gly361=)
c.981G>C (p.Gly327=)
c.612G>C (p.Gly204=)
5g.112827160G=CA1573505271APCc.1461G= (p.Gly487=)
n.96+5169G=
n.150G= (p.Gly50=)
c.1407G= (p.Gly469=)
c.*783G= (n.*783G=)
c.1515G= (p.Gly505=)
c.1491G= (p.Gly497=)
c.1386G= (p.Gly462=)
c.1377G= (p.Gly459=)
c.1338G= (p.Gly446=)
c.1284G= (p.Gly428=)
c.1188G= (p.Gly396=)
c.1158G= (p.Gly386=)
c.1083G= (p.Gly361=)
c.981G= (p.Gly327=)
c.612G= (p.Gly204=)
5g.112827160G>TCA445755921APCc.1461G>T (p.Gly487=)
n.96+5169G>T
n.150G>T (p.Gly50=)
c.1407G>T (p.Gly469=)
c.*783G>T (n.*783G>T)
c.1515G>T (p.Gly505=)
c.1491G>T (p.Gly497=)
c.1386G>T (p.Gly462=)
c.1377G>T (p.Gly459=)
c.1338G>T (p.Gly446=)
c.1284G>T (p.Gly428=)
c.1188G>T (p.Gly396=)
c.1158G>T (p.Gly386=)
c.1083G>T (p.Gly361=)
c.981G>T (p.Gly327=)
c.612G>T (p.Gly204=)
ClinVar
5g.112827160_112827164delinsGCTTACA1573505269APCc.1461_1465delinsGCTTA (p.Gly487=)
n.96+5169_96+5173delinsGCTTA
n.150_154delinsGCTTA (p.Gly50=)
c.1407_1411delinsGCTTA (p.Gly469=)
c.*783_*787delinsGCTTA (n.*783_*787delinsGCTTA)
c.1515_1519delinsGCTTA (p.Gly505=)
c.1491_1495delinsGCTTA (p.Gly497=)
c.1386_1390delinsGCTTA (p.Gly462=)
c.1377_1381delinsGCTTA (p.Gly459=)
c.1338_1342delinsGCTTA (p.Gly446=)
c.1284_1288delinsGCTTA (p.Gly428=)
c.1188_1192delinsGCTTA (p.Gly396=)
c.1158_1162delinsGCTTA (p.Gly386=)
c.1083_1087delinsGCTTA (p.Gly361=)
c.981_985delinsGCTTA (p.Gly327=)
c.612_616delinsGCTTA (p.Gly204=)
5g.112827161C>ACA16024507APCc.1462C>A (p.Leu488Ile)
n.96+5170C>A
n.151C>A (p.Leu51Ile)
c.1408C>A (p.Leu470Ile)
c.*784C>A (n.*784C>A)
c.1516C>A (p.Leu506Ile)
c.1492C>A (p.Leu498Ile)
c.1387C>A (p.Leu463Ile)
c.1378C>A (p.Leu460Ile)
c.1339C>A (p.Leu447Ile)
c.1285C>A (p.Leu429Ile)
c.1189C>A (p.Leu397Ile)
c.1159C>A (p.Leu387Ile)
c.1084C>A (p.Leu362Ile)
c.982C>A (p.Leu328Ile)
c.613C>A (p.Leu205Ile)
5g.112827161C=CA1573505280APCc.1462C= (p.Leu488=)
n.96+5170C=
n.151C= (p.Leu51=)
c.1408C= (p.Leu470=)
c.*784C= (n.*784C=)
c.1516C= (p.Leu506=)
c.1492C= (p.Leu498=)
c.1387C= (p.Leu463=)
c.1378C= (p.Leu460=)
c.1339C= (p.Leu447=)
c.1285C= (p.Leu429=)
c.1189C= (p.Leu397=)
c.1159C= (p.Leu387=)
c.1084C= (p.Leu362=)
c.982C= (p.Leu328=)
c.613C= (p.Leu205=)
5g.112827161C>GCA16024508APCc.1462C>G (p.Leu488Val)
n.96+5170C>G
n.151C>G (p.Leu51Val)
c.1408C>G (p.Leu470Val)
c.*784C>G (n.*784C>G)
c.1516C>G (p.Leu506Val)
c.1492C>G (p.Leu498Val)
c.1387C>G (p.Leu463Val)
c.1378C>G (p.Leu460Val)
c.1339C>G (p.Leu447Val)
c.1285C>G (p.Leu429Val)
c.1189C>G (p.Leu397Val)
c.1159C>G (p.Leu387Val)
c.1084C>G (p.Leu362Val)
c.982C>G (p.Leu328Val)
c.613C>G (p.Leu205Val)
5g.112827161C>TCA005184APCc.1462C>T (p.Leu488Phe)
n.96+5170C>T
n.151C>T (p.Leu51Phe)
c.1408C>T (p.Leu470Phe)
c.*784C>T (n.*784C>T)
c.1516C>T (p.Leu506Phe)
c.1492C>T (p.Leu498Phe)
c.1387C>T (p.Leu463Phe)
c.1378C>T (p.Leu460Phe)
c.1339C>T (p.Leu447Phe)
c.1285C>T (p.Leu429Phe)
c.1189C>T (p.Leu397Phe)
c.1159C>T (p.Leu387Phe)
c.1084C>T (p.Leu362Phe)
c.982C>T (p.Leu328Phe)
c.613C>T (p.Leu205Phe)
ClinVar dbSNP gnomAD
5g.112827163_112827166delCA645369348APCc.1464_1467del (p.Thr489MetfsTer8)
n.96+5172_96+5175del
n.153_156del (p.Thr52MetfsTer8)
c.1410_1413del (p.Thr471MetfsTer8)
c.*786_*789del (n.*786_*789del)
c.1518_1521del (p.Thr507MetfsTer8)
c.1494_1497del (p.Thr499MetfsTer8)
c.1389_1392del (p.Thr464MetfsTer8)
c.1380_1383del (p.Thr461MetfsTer8)
c.1341_1344del (p.Thr448MetfsTer8)
c.1287_1290del (p.Thr430MetfsTer8)
c.1191_1194del (p.Thr398MetfsTer8)
c.1161_1164del (p.Thr388MetfsTer8)
c.1086_1089del (p.Thr363MetfsTer8)
c.984_987del (p.Thr329MetfsTer8)
c.615_618del (p.Thr206MetfsTer8)
ClinVar dbSNP
5g.112827162T>ACA16024509APCc.1463T>A (p.Leu488His)
n.96+5171T>A
n.152T>A (p.Leu51His)
c.1409T>A (p.Leu470His)
c.*785T>A (n.*785T>A)
c.1517T>A (p.Leu506His)
c.1493T>A (p.Leu498His)
c.1388T>A (p.Leu463His)
c.1379T>A (p.Leu460His)
c.1340T>A (p.Leu447His)
c.1286T>A (p.Leu429His)
c.1190T>A (p.Leu397His)
c.1160T>A (p.Leu387His)
c.1085T>A (p.Leu362His)
c.983T>A (p.Leu328His)
c.614T>A (p.Leu205His)
5g.112827162T>CCA027830APCc.1463T>C (p.Leu488Pro)
n.96+5171T>C
n.152T>C (p.Leu51Pro)
c.1409T>C (p.Leu470Pro)
c.*785T>C (n.*785T>C)
c.1517T>C (p.Leu506Pro)
c.1493T>C (p.Leu498Pro)
c.1388T>C (p.Leu463Pro)
c.1379T>C (p.Leu460Pro)
c.1340T>C (p.Leu447Pro)
c.1286T>C (p.Leu429Pro)
c.1190T>C (p.Leu397Pro)
c.1160T>C (p.Leu387Pro)
c.1085T>C (p.Leu362Pro)
c.983T>C (p.Leu328Pro)
c.614T>C (p.Leu205Pro)
ClinVar dbSNP ExAC gnomAD
5g.112827162T>GCA16024510APCc.1463T>G (p.Leu488Arg)
n.96+5171T>G
n.152T>G (p.Leu51Arg)
c.1409T>G (p.Leu470Arg)
c.*785T>G (n.*785T>G)
c.1517T>G (p.Leu506Arg)
c.1493T>G (p.Leu498Arg)
c.1388T>G (p.Leu463Arg)
c.1379T>G (p.Leu460Arg)
c.1340T>G (p.Leu447Arg)
c.1286T>G (p.Leu429Arg)
c.1190T>G (p.Leu397Arg)
c.1160T>G (p.Leu387Arg)
c.1085T>G (p.Leu362Arg)
c.983T>G (p.Leu328Arg)
c.614T>G (p.Leu205Arg)
5g.112827162T=CA1573505293APCc.1463T= (p.Leu488=)
n.96+5171T=
n.152T= (p.Leu51=)
c.1409T= (p.Leu470=)
c.*785T= (n.*785T=)
c.1517T= (p.Leu506=)
c.1493T= (p.Leu498=)
c.1388T= (p.Leu463=)
c.1379T= (p.Leu460=)
c.1340T= (p.Leu447=)
c.1286T= (p.Leu429=)
c.1190T= (p.Leu397=)
c.1160T= (p.Leu387=)
c.1085T= (p.Leu362=)
c.983T= (p.Leu328=)
c.614T= (p.Leu205=)
5g.112827163dupCA658760453APCc.1464dup (p.Thr489TyrfsTer2)
n.96+5172dup
n.153dup (p.Thr52TyrfsTer2)
c.1410dup (p.Thr471TyrfsTer2)
c.*786dup (n.*786dup)
c.1518dup (p.Thr507TyrfsTer2)
c.1494dup (p.Thr499TyrfsTer2)
c.1389dup (p.Thr464TyrfsTer2)
c.1380dup (p.Thr461TyrfsTer2)
c.1341dup (p.Thr448TyrfsTer2)
c.1287dup (p.Thr430TyrfsTer2)
c.1191dup (p.Thr398TyrfsTer2)
c.1161dup (p.Thr388TyrfsTer2)
c.1086dup (p.Thr363TyrfsTer2)
c.984dup (p.Thr329TyrfsTer2)
c.615dup (p.Thr206TyrfsTer2)
5g.112827162_112827175delinsTTACTAATGACCACCA1573505294APCc.1463_1476delinsTTACTAATGACCAC (p.Leu488=)
n.96+5171_96+5184delinsTTACTAATGACCAC
n.152_165delinsTTACTAATGACCAC (p.Leu51=)
c.1409_1422delinsTTACTAATGACCAC (p.Leu470=)
c.*785_*798delinsTTACTAATGACCAC (n.*785_*798delinsTTACTAATGACCAC)
c.1517_1530delinsTTACTAATGACCAC (p.Leu506=)
c.1493_1506delinsTTACTAATGACCAC (p.Leu498=)
c.1388_1401delinsTTACTAATGACCAC (p.Leu463=)
c.1379_1392delinsTTACTAATGACCAC (p.Leu460=)
c.1340_1353delinsTTACTAATGACCAC (p.Leu447=)
c.1286_1299delinsTTACTAATGACCAC (p.Leu429=)
c.1190_1203delinsTTACTAATGACCAC (p.Leu397=)
c.1160_1173delinsTTACTAATGACCAC (p.Leu387=)
c.1085_1098delinsTTACTAATGACCAC (p.Leu362=)
c.983_996delinsTTACTAATGACCAC (p.Leu328=)
c.614_627delinsTTACTAATGACCAC (p.Leu205=)
5g.112827163T>ACA445755922APCc.1464T>A (p.Leu488=)
n.96+5172T>A
n.153T>A (p.Leu51=)
c.1410T>A (p.Leu470=)
c.*786T>A (n.*786T>A)
c.1518T>A (p.Leu506=)
c.1494T>A (p.Leu498=)
c.1389T>A (p.Leu463=)
c.1380T>A (p.Leu460=)
c.1341T>A (p.Leu447=)
c.1287T>A (p.Leu429=)
c.1191T>A (p.Leu397=)
c.1161T>A (p.Leu387=)
c.1086T>A (p.Leu362=)
c.984T>A (p.Leu328=)
c.615T>A (p.Leu205=)
5g.112827163T>CCA445755923APCc.1464T>C (p.Leu488=)
n.96+5172T>C
n.153T>C (p.Leu51=)
c.1410T>C (p.Leu470=)
c.*786T>C (n.*786T>C)
c.1518T>C (p.Leu506=)
c.1494T>C (p.Leu498=)
c.1389T>C (p.Leu463=)
c.1380T>C (p.Leu460=)
c.1341T>C (p.Leu447=)
c.1287T>C (p.Leu429=)
c.1191T>C (p.Leu397=)
c.1161T>C (p.Leu387=)
c.1086T>C (p.Leu362=)
c.984T>C (p.Leu328=)
c.615T>C (p.Leu205=)
5g.112827163T>GCA445755924APCc.1464T>G (p.Leu488=)
n.96+5172T>G
n.153T>G (p.Leu51=)
c.1410T>G (p.Leu470=)
c.*786T>G (n.*786T>G)
c.1518T>G (p.Leu506=)
c.1494T>G (p.Leu498=)
c.1389T>G (p.Leu463=)
c.1380T>G (p.Leu460=)
c.1341T>G (p.Leu447=)
c.1287T>G (p.Leu429=)
c.1191T>G (p.Leu397=)
c.1161T>G (p.Leu387=)
c.1086T>G (p.Leu362=)
c.984T>G (p.Leu328=)
c.615T>G (p.Leu205=)
5g.112827166_112827178delCA915942600APCc.1467_1479del (p.Asn490ValfsTer4)
n.96+5175_96+5187del
n.156_168del (p.Asn53ValfsTer4)
c.1413_1425del (p.Asn472ValfsTer4)
c.*789_*801del (n.*789_*801del)
c.1521_1533del (p.Asn508ValfsTer4)
c.1497_1509del (p.Asn500ValfsTer4)
c.1392_1404del (p.Asn465ValfsTer4)
c.1383_1395del (p.Asn462ValfsTer4)
c.1344_1356del (p.Asn449ValfsTer4)
c.1290_1302del (p.Asn431ValfsTer4)
c.1194_1206del (p.Asn399ValfsTer4)
c.1164_1176del (p.Asn389ValfsTer4)
c.1089_1101del (p.Asn364ValfsTer4)
c.987_999del (p.Asn330ValfsTer4)
c.618_630del (p.Asn207ValfsTer4)
ClinVar dbSNP
5g.112827164A=CA1573505305APCc.1465A= (p.Thr489=)
n.96+5173A=
n.154A= (p.Thr52=)
c.1411A= (p.Thr471=)
c.*787A= (n.*787A=)
c.1519A= (p.Thr507=)
c.1495A= (p.Thr499=)
c.1390A= (p.Thr464=)
c.1381A= (p.Thr461=)
c.1342A= (p.Thr448=)
c.1288A= (p.Thr430=)
c.1192A= (p.Thr398=)
c.1162A= (p.Thr388=)
c.1087A= (p.Thr363=)
c.985A= (p.Thr329=)
c.616A= (p.Thr206=)
5g.112827164A>CCA16024511APCc.1465A>C (p.Thr489Pro)
n.96+5173A>C
n.154A>C (p.Thr52Pro)
c.1411A>C (p.Thr471Pro)
c.*787A>C (n.*787A>C)
c.1519A>C (p.Thr507Pro)
c.1495A>C (p.Thr499Pro)
c.1390A>C (p.Thr464Pro)
c.1381A>C (p.Thr461Pro)
c.1342A>C (p.Thr448Pro)
c.1288A>C (p.Thr430Pro)
c.1192A>C (p.Thr398Pro)
c.1162A>C (p.Thr388Pro)
c.1087A>C (p.Thr363Pro)
c.985A>C (p.Thr329Pro)
c.616A>C (p.Thr206Pro)
5g.112827164A>GCA027849APCc.1465A>G (p.Thr489Ala)
n.96+5173A>G
n.154A>G (p.Thr52Ala)
c.1411A>G (p.Thr471Ala)
c.*787A>G (n.*787A>G)
c.1519A>G (p.Thr507Ala)
c.1495A>G (p.Thr499Ala)
c.1390A>G (p.Thr464Ala)
c.1381A>G (p.Thr461Ala)
c.1342A>G (p.Thr448Ala)
c.1288A>G (p.Thr430Ala)
c.1192A>G (p.Thr398Ala)
c.1162A>G (p.Thr388Ala)
c.1087A>G (p.Thr363Ala)
c.985A>G (p.Thr329Ala)
c.616A>G (p.Thr206Ala)
dbSNP ExAC gnomAD
5g.112827164A>TCA16024512APCc.1465A>T (p.Thr489Ser)
n.96+5173A>T
n.154A>T (p.Thr52Ser)
c.1411A>T (p.Thr471Ser)
c.*787A>T (n.*787A>T)
c.1519A>T (p.Thr507Ser)
c.1495A>T (p.Thr499Ser)
c.1390A>T (p.Thr464Ser)
c.1381A>T (p.Thr461Ser)
c.1342A>T (p.Thr448Ser)
c.1288A>T (p.Thr430Ser)
c.1192A>T (p.Thr398Ser)
c.1162A>T (p.Thr388Ser)
c.1087A>T (p.Thr363Ser)
c.985A>T (p.Thr329Ser)
c.616A>T (p.Thr206Ser)
5g.112827164_112827166delinsACTCA1573505308APCc.1465_1467delinsACT (p.Thr489=)
n.96+5173_96+5175delinsACT
n.154_156delinsACT (p.Thr52=)
c.1411_1413delinsACT (p.Thr471=)
c.*787_*789delinsACT (n.*787_*789delinsACT)
c.1519_1521delinsACT (p.Thr507=)
c.1495_1497delinsACT (p.Thr499=)
c.1390_1392delinsACT (p.Thr464=)
c.1381_1383delinsACT (p.Thr461=)
c.1342_1344delinsACT (p.Thr448=)
c.1288_1290delinsACT (p.Thr430=)
c.1192_1194delinsACT (p.Thr398=)
c.1162_1164delinsACT (p.Thr388=)
c.1087_1089delinsACT (p.Thr363=)
c.985_987delinsACT (p.Thr329=)
c.616_618delinsACT (p.Thr206=)
5g.112827165C>ACA16024513APCc.1466C>A (p.Thr489Asn)
n.96+5174C>A
n.155C>A (p.Thr52Asn)
c.1412C>A (p.Thr471Asn)
c.*788C>A (n.*788C>A)
c.1520C>A (p.Thr507Asn)
c.1496C>A (p.Thr499Asn)
c.1391C>A (p.Thr464Asn)
c.1382C>A (p.Thr461Asn)
c.1343C>A (p.Thr448Asn)
c.1289C>A (p.Thr430Asn)
c.1193C>A (p.Thr398Asn)
c.1163C>A (p.Thr388Asn)
c.1088C>A (p.Thr363Asn)
c.986C>A (p.Thr329Asn)
c.617C>A (p.Thr206Asn)
5g.112827165C>GCA16024514APCc.1466C>G (p.Thr489Ser)
n.96+5174C>G
n.155C>G (p.Thr52Ser)
c.1412C>G (p.Thr471Ser)
c.*788C>G (n.*788C>G)
c.1520C>G (p.Thr507Ser)
c.1496C>G (p.Thr499Ser)
c.1391C>G (p.Thr464Ser)
c.1382C>G (p.Thr461Ser)
c.1343C>G (p.Thr448Ser)
c.1289C>G (p.Thr430Ser)
c.1193C>G (p.Thr398Ser)
c.1163C>G (p.Thr388Ser)
c.1088C>G (p.Thr363Ser)
c.986C>G (p.Thr329Ser)
c.617C>G (p.Thr206Ser)
5g.112827165C>TCA16024515APCc.1466C>T (p.Thr489Ile)
n.96+5174C>T
n.155C>T (p.Thr52Ile)
c.1412C>T (p.Thr471Ile)
c.*788C>T (n.*788C>T)
c.1520C>T (p.Thr507Ile)
c.1496C>T (p.Thr499Ile)
c.1391C>T (p.Thr464Ile)
c.1382C>T (p.Thr461Ile)
c.1343C>T (p.Thr448Ile)
c.1289C>T (p.Thr430Ile)
c.1193C>T (p.Thr398Ile)
c.1163C>T (p.Thr388Ile)
c.1088C>T (p.Thr363Ile)
c.986C>T (p.Thr329Ile)
c.617C>T (p.Thr206Ile)
5g.112827165_112827166delCA1139658996APCc.1466_1467del (p.Thr489LysfsTer2)
n.96+5174_96+5175del
n.155_156del (p.Thr52LysfsTer2)
c.1412_1413del (p.Thr471LysfsTer2)
c.*788_*789del (n.*788_*789del)
c.1520_1521del (p.Thr507LysfsTer2)
c.1496_1497del (p.Thr499LysfsTer2)
c.1391_1392del (p.Thr464LysfsTer2)
c.1382_1383del (p.Thr461LysfsTer2)
c.1343_1344del (p.Thr448LysfsTer2)
c.1289_1290del (p.Thr430LysfsTer2)
c.1193_1194del (p.Thr398LysfsTer2)
c.1163_1164del (p.Thr388LysfsTer2)
c.1088_1089del (p.Thr363LysfsTer2)
c.986_987del (p.Thr329LysfsTer2)
c.617_618del (p.Thr206LysfsTer2)
ClinVar dbSNP
5g.112827166T>ACA445755928APCc.1467T>A (p.Thr489=)
n.96+5175T>A
n.156T>A (p.Thr52=)
c.1413T>A (p.Thr471=)
c.*789T>A (n.*789T>A)
c.1521T>A (p.Thr507=)
c.1497T>A (p.Thr499=)
c.1392T>A (p.Thr464=)
c.1383T>A (p.Thr461=)
c.1344T>A (p.Thr448=)
c.1290T>A (p.Thr430=)
c.1194T>A (p.Thr398=)
c.1164T>A (p.Thr388=)
c.1089T>A (p.Thr363=)
c.987T>A (p.Thr329=)
c.618T>A (p.Thr206=)
5g.112827166T>CCA445755930APCc.1467T>C (p.Thr489=)
n.96+5175T>C
n.156T>C (p.Thr52=)
c.1413T>C (p.Thr471=)
c.*789T>C (n.*789T>C)
c.1521T>C (p.Thr507=)
c.1497T>C (p.Thr499=)
c.1392T>C (p.Thr464=)
c.1383T>C (p.Thr461=)
c.1344T>C (p.Thr448=)
c.1290T>C (p.Thr430=)
c.1194T>C (p.Thr398=)
c.1164T>C (p.Thr388=)
c.1089T>C (p.Thr363=)
c.987T>C (p.Thr329=)
c.618T>C (p.Thr206=)

Number of alleles fetched