Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112821894_112829116delCA2499217432APCc.1313-2_1409-5835del
c.1313-2_1797+144del
n.1369-2_1943del
c.*1319-2_*1749+144del
c.1259-2_1689+144del
c.1313-2_1743+144del
c.*635-2_*1065+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.112828872dupCA645562799APCc.1409-6079dup (n.1409-6079dup)
c.1697dup (p.Leu566PhefsTer12)
n.1699dup
c.*1649dup (n.*1649dup)
c.1589dup (p.Leu530PhefsTer12)
c.1643dup (p.Leu548PhefsTer12)
c.97-6079dup
c.332dup (p.Leu111PhefsTer12)
n.130dup
c.*965dup (n.*965dup)
c.130dup
c.1673dup (p.Leu558PhefsTer12)
c.1568dup (p.Leu523PhefsTer12)
c.1559dup (p.Leu520PhefsTer12)
c.1520dup (p.Leu507PhefsTer12)
c.1466dup (p.Leu489PhefsTer12)
c.1370dup (p.Leu457PhefsTer12)
c.1340dup (p.Leu447PhefsTer12)
c.1265dup (p.Leu422PhefsTer12)
c.1163dup (p.Leu388PhefsTer12)
c.794dup (p.Leu265PhefsTer12)
ClinVar dbSNP COSMIC
5g.112828872delCA445757375APCc.1409-6079del (n.1409-6079del)
c.1697del (p.Leu566Ter)
n.1699del
c.*1649del (n.*1649del)
c.1589del (p.Leu530Ter)
c.1643del (p.Leu548Ter)
c.97-6079del
c.332del (p.Leu111Ter)
n.130del
c.*965del (n.*965del)
c.130del
c.1673del (p.Leu558Ter)
c.1568del (p.Leu523Ter)
c.1559del (p.Leu520Ter)
c.1520del (p.Leu507Ter)
c.1466del (p.Leu489Ter)
c.1370del (p.Leu457Ter)
c.1340del (p.Leu447Ter)
c.1265del (p.Leu422Ter)
c.1163del (p.Leu388Ter)
c.794del (p.Leu265Ter)
ClinVar dbSNP COSMIC
5g.112828871_112828872delCA2695205031APCc.1409-6080_1409-6079del (n.1409-6080_1409-6079del)
c.1696_1697del (p.Leu566GlufsTer11)
n.1698_1699del
c.*1648_*1649del (n.*1648_*1649del)
c.1588_1589del (p.Leu530GlufsTer11)
c.1642_1643del (p.Leu548GlufsTer11)
c.97-6080_97-6079del
c.331_332del (p.Leu111GlufsTer11)
n.129_130del
c.*964_*965del (n.*964_*965del)
c.129_130del
c.1672_1673del (p.Leu558GlufsTer11)
c.1567_1568del (p.Leu523GlufsTer11)
c.1558_1559del (p.Leu520GlufsTer11)
c.1519_1520del (p.Leu507GlufsTer11)
c.1465_1466del (p.Leu489GlufsTer11)
c.1369_1370del (p.Leu457GlufsTer11)
c.1339_1340del (p.Leu447GlufsTer11)
c.1264_1265del (p.Leu422GlufsTer11)
c.1162_1163del (p.Leu388GlufsTer11)
c.793_794del (p.Leu265GlufsTer11)
5g.112828872T>ACA16024896APCc.1409-6079T>A (n.1409-6079T>A)
c.1697T>A (p.Leu566Ter)
n.1699T>A
c.*1649T>A (n.*1649T>A)
c.1589T>A (p.Leu530Ter)
c.1643T>A (p.Leu548Ter)
c.97-6079T>A
c.332T>A (p.Leu111Ter)
n.130T>A
c.*965T>A (n.*965T>A)
c.130T>A
c.1673T>A (p.Leu558Ter)
c.1568T>A (p.Leu523Ter)
c.1559T>A (p.Leu520Ter)
c.1520T>A (p.Leu507Ter)
c.1466T>A (p.Leu489Ter)
c.1370T>A (p.Leu457Ter)
c.1340T>A (p.Leu447Ter)
c.1265T>A (p.Leu422Ter)
c.1163T>A (p.Leu388Ter)
c.794T>A (p.Leu265Ter)
5g.112828872T>CCA16024897APCc.1409-6079T>C (n.1409-6079T>C)
c.1697T>C (p.Leu566Ser)
n.1699T>C
c.*1649T>C (n.*1649T>C)
c.1589T>C (p.Leu530Ser)
c.1643T>C (p.Leu548Ser)
c.97-6079T>C
c.332T>C (p.Leu111Ser)
n.130T>C
c.*965T>C (n.*965T>C)
c.130T>C
c.1673T>C (p.Leu558Ser)
c.1568T>C (p.Leu523Ser)
c.1559T>C (p.Leu520Ser)
c.1520T>C (p.Leu507Ser)
c.1466T>C (p.Leu489Ser)
c.1370T>C (p.Leu457Ser)
c.1340T>C (p.Leu447Ser)
c.1265T>C (p.Leu422Ser)
c.1163T>C (p.Leu388Ser)
c.794T>C (p.Leu265Ser)
ClinVar
5g.112828872T>GCA16024898APCc.1409-6079T>G (n.1409-6079T>G)
c.1697T>G (p.Leu566Trp)
n.1699T>G
c.*1649T>G (n.*1649T>G)
c.1589T>G (p.Leu530Trp)
c.1643T>G (p.Leu548Trp)
c.97-6079T>G
c.332T>G (p.Leu111Trp)
n.130T>G
c.*965T>G (n.*965T>G)
c.130T>G
c.1673T>G (p.Leu558Trp)
c.1568T>G (p.Leu523Trp)
c.1559T>G (p.Leu520Trp)
c.1520T>G (p.Leu507Trp)
c.1466T>G (p.Leu489Trp)
c.1370T>G (p.Leu457Trp)
c.1340T>G (p.Leu447Trp)
c.1265T>G (p.Leu422Trp)
c.1163T>G (p.Leu388Trp)
c.794T>G (p.Leu265Trp)
5g.112828873G>ACA445757380APCc.1409-6078G>A (n.1409-6078G>A)
c.1698G>A (p.Leu566=)
n.1700G>A
c.*1650G>A (n.*1650G>A)
c.1590G>A (p.Leu530=)
c.1644G>A (p.Leu548=)
c.97-6078G>A
c.333G>A (p.Leu111=)
n.131G>A
c.*966G>A (n.*966G>A)
c.131G>A
c.1674G>A (p.Leu558=)
c.1569G>A (p.Leu523=)
c.1560G>A (p.Leu520=)
c.1521G>A (p.Leu507=)
c.1467G>A (p.Leu489=)
c.1371G>A (p.Leu457=)
c.1341G>A (p.Leu447=)
c.1266G>A (p.Leu422=)
c.1164G>A (p.Leu388=)
c.795G>A (p.Leu265=)
5g.112828873G>CCA16024899APCc.1409-6078G>C (n.1409-6078G>C)
c.1698G>C (p.Leu566Phe)
n.1700G>C
c.*1650G>C (n.*1650G>C)
c.1590G>C (p.Leu530Phe)
c.1644G>C (p.Leu548Phe)
c.97-6078G>C
c.333G>C (p.Leu111Phe)
n.131G>C
c.*966G>C (n.*966G>C)
c.131G>C
c.1674G>C (p.Leu558Phe)
c.1569G>C (p.Leu523Phe)
c.1560G>C (p.Leu520Phe)
c.1521G>C (p.Leu507Phe)
c.1467G>C (p.Leu489Phe)
c.1371G>C (p.Leu457Phe)
c.1341G>C (p.Leu447Phe)
c.1266G>C (p.Leu422Phe)
c.1164G>C (p.Leu388Phe)
c.795G>C (p.Leu265Phe)
ClinVar dbSNP gnomAD v4
5g.112828873G=CA1573508636APCc.1409-6078G= (n.1409-6078G=)
c.1698G= (p.Leu566=)
n.1700G=
c.*1650G= (n.*1650G=)
c.1590G= (p.Leu530=)
c.1644G= (p.Leu548=)
c.97-6078G=
c.333G= (p.Leu111=)
n.131G=
c.*966G= (n.*966G=)
c.131G=
c.1674G= (p.Leu558=)
c.1569G= (p.Leu523=)
c.1560G= (p.Leu520=)
c.1521G= (p.Leu507=)
c.1467G= (p.Leu489=)
c.1371G= (p.Leu457=)
c.1341G= (p.Leu447=)
c.1266G= (p.Leu422=)
c.1164G= (p.Leu388=)
c.795G= (p.Leu265=)
5g.112828873G>TCA16024900APCc.1409-6078G>T (n.1409-6078G>T)
c.1698G>T (p.Leu566Phe)
n.1700G>T
c.*1650G>T (n.*1650G>T)
c.1590G>T (p.Leu530Phe)
c.1644G>T (p.Leu548Phe)
c.97-6078G>T
c.333G>T (p.Leu111Phe)
n.131G>T
c.*966G>T (n.*966G>T)
c.131G>T
c.1674G>T (p.Leu558Phe)
c.1569G>T (p.Leu523Phe)
c.1560G>T (p.Leu520Phe)
c.1521G>T (p.Leu507Phe)
c.1467G>T (p.Leu489Phe)
c.1371G>T (p.Leu457Phe)
c.1341G>T (p.Leu447Phe)
c.1266G>T (p.Leu422Phe)
c.1164G>T (p.Leu388Phe)
c.795G>T (p.Leu265Phe)
gnomAD v4
5g.112828873_112828874insTCA445757381APCc.1409-6078_1409-6077insT (n.1409-6078_1409-6077insT)
c.1698_1699insT (p.Arg567Ter)
n.1700_1701insT
c.*1650_*1651insT (n.*1650_*1651insT)
c.1590_1591insT (p.Arg531Ter)
c.1644_1645insT (p.Arg549Ter)
c.97-6078_97-6077insT
c.333_334insT (p.Arg112Ter)
n.131_132insT
c.*966_*967insT (n.*966_*967insT)
c.131_132insT
c.1674_1675insT (p.Arg559Ter)
c.1569_1570insT (p.Arg524Ter)
c.1560_1561insT (p.Arg521Ter)
c.1521_1522insT (p.Arg508Ter)
c.1467_1468insT (p.Arg490Ter)
c.1371_1372insT (p.Arg458Ter)
c.1341_1342insT (p.Arg448Ter)
c.1266_1267insT (p.Arg423Ter)
c.1164_1165insT (p.Arg389Ter)
c.795_796insT (p.Arg266Ter)
5g.112828874A>CCA445757382APCc.1409-6077A>C (n.1409-6077A>C)
c.1699A>C (p.Arg567=)
n.1701A>C
c.*1651A>C (n.*1651A>C)
c.1591A>C (p.Arg531=)
c.1645A>C (p.Arg549=)
c.97-6077A>C
c.334A>C (p.Arg112=)
n.132A>C
c.*967A>C (n.*967A>C)
c.132A>C
c.1675A>C (p.Arg559=)
c.1570A>C (p.Arg524=)
c.1561A>C (p.Arg521=)
c.1522A>C (p.Arg508=)
c.1468A>C (p.Arg490=)
c.1372A>C (p.Arg458=)
c.1342A>C (p.Arg448=)
c.1267A>C (p.Arg423=)
c.1165A>C (p.Arg389=)
c.796A>C (p.Arg266=)
5g.112828874A>GCA16024901APCc.1409-6077A>G (n.1409-6077A>G)
c.1699A>G (p.Arg567Gly)
n.1701A>G
c.*1651A>G (n.*1651A>G)
c.1591A>G (p.Arg531Gly)
c.1645A>G (p.Arg549Gly)
c.97-6077A>G
c.334A>G (p.Arg112Gly)
n.132A>G
c.*967A>G (n.*967A>G)
c.132A>G
c.1675A>G (p.Arg559Gly)
c.1570A>G (p.Arg524Gly)
c.1561A>G (p.Arg521Gly)
c.1522A>G (p.Arg508Gly)
c.1468A>G (p.Arg490Gly)
c.1372A>G (p.Arg458Gly)
c.1342A>G (p.Arg448Gly)
c.1267A>G (p.Arg423Gly)
c.1165A>G (p.Arg389Gly)
c.796A>G (p.Arg266Gly)
5g.112828874A>TCA16024902APCc.1409-6077A>T (n.1409-6077A>T)
c.1699A>T (p.Arg567Trp)
n.1701A>T
c.*1651A>T (n.*1651A>T)
c.1591A>T (p.Arg531Trp)
c.1645A>T (p.Arg549Trp)
c.97-6077A>T
c.334A>T (p.Arg112Trp)
n.132A>T
c.*967A>T (n.*967A>T)
c.132A>T
c.1675A>T (p.Arg559Trp)
c.1570A>T (p.Arg524Trp)
c.1561A>T (p.Arg521Trp)
c.1522A>T (p.Arg508Trp)
c.1468A>T (p.Arg490Trp)
c.1372A>T (p.Arg458Trp)
c.1342A>T (p.Arg448Trp)
c.1267A>T (p.Arg423Trp)
c.1165A>T (p.Arg389Trp)
c.796A>T (p.Arg266Trp)
dbSNP
5g.112828876_112828912delCA2582341389APCc.1409-6075_1409-6039del (n.1409-6075_1409-6039del)
c.1701_1737del (p.Asn568ArgfsTer8)
n.1703_1739del
c.*1653_*1689del (n.*1653_*1689del)
c.1593_1629del (p.Asn532ArgfsTer8)
c.1647_1683del (p.Asn550ArgfsTer8)
c.97-6075_97-6039del
c.336_372del (p.Asn113ArgfsTer8)
n.134_170del
c.*969_*1005del (n.*969_*1005del)
c.134_170del
c.1677_1713del (p.Asn560ArgfsTer8)
c.1572_1608del (p.Asn525ArgfsTer8)
c.1563_1599del (p.Asn522ArgfsTer8)
c.1524_1560del (p.Asn509ArgfsTer8)
c.1470_1506del (p.Asn491ArgfsTer8)
c.1374_1410del (p.Asn459ArgfsTer8)
c.1344_1380del (p.Asn449ArgfsTer8)
c.1269_1305del (p.Asn424ArgfsTer8)
c.1167_1203del (p.Asn390ArgfsTer8)
c.798_834del (p.Asn267ArgfsTer8)
5g.112828875G>ACA16024903APCc.1409-6076G>A (n.1409-6076G>A)
c.1700G>A (p.Arg567Lys)
n.1702G>A
c.*1652G>A (n.*1652G>A)
c.1592G>A (p.Arg531Lys)
c.1646G>A (p.Arg549Lys)
c.97-6076G>A
c.335G>A (p.Arg112Lys)
n.133G>A
c.*968G>A (n.*968G>A)
c.133G>A
c.1676G>A (p.Arg559Lys)
c.1571G>A (p.Arg524Lys)
c.1562G>A (p.Arg521Lys)
c.1523G>A (p.Arg508Lys)
c.1469G>A (p.Arg490Lys)
c.1373G>A (p.Arg458Lys)
c.1343G>A (p.Arg448Lys)
c.1268G>A (p.Arg423Lys)
c.1166G>A (p.Arg389Lys)
c.797G>A (p.Arg266Lys)
5g.112828875G>CCA16024904APCc.1409-6076G>C (n.1409-6076G>C)
c.1700G>C (p.Arg567Thr)
n.1702G>C
c.*1652G>C (n.*1652G>C)
c.1592G>C (p.Arg531Thr)
c.1646G>C (p.Arg549Thr)
c.97-6076G>C
c.335G>C (p.Arg112Thr)
n.133G>C
c.*968G>C (n.*968G>C)
c.133G>C
c.1676G>C (p.Arg559Thr)
c.1571G>C (p.Arg524Thr)
c.1562G>C (p.Arg521Thr)
c.1523G>C (p.Arg508Thr)
c.1469G>C (p.Arg490Thr)
c.1373G>C (p.Arg458Thr)
c.1343G>C (p.Arg448Thr)
c.1268G>C (p.Arg423Thr)
c.1166G>C (p.Arg389Thr)
c.797G>C (p.Arg266Thr)
5g.112828875G>TCA16024905APCc.1409-6076G>T (n.1409-6076G>T)
c.1700G>T (p.Arg567Met)
n.1702G>T
c.*1652G>T (n.*1652G>T)
c.1592G>T (p.Arg531Met)
c.1646G>T (p.Arg549Met)
c.97-6076G>T
c.335G>T (p.Arg112Met)
n.133G>T
c.*968G>T (n.*968G>T)
c.133G>T
c.1676G>T (p.Arg559Met)
c.1571G>T (p.Arg524Met)
c.1562G>T (p.Arg521Met)
c.1523G>T (p.Arg508Met)
c.1469G>T (p.Arg490Met)
c.1373G>T (p.Arg458Met)
c.1343G>T (p.Arg448Met)
c.1268G>T (p.Arg423Met)
c.1166G>T (p.Arg389Met)
c.797G>T (p.Arg266Met)
5g.112828875_112828876delinsAACA645562800APCc.1409-6076_1409-6075delinsAA (n.1409-6076_1409-6075delinsAA)
c.1700_1701delinsAA (p.Arg567Lys)
n.1702_1703delinsAA
c.*1652_*1653delinsAA (n.*1652_*1653delinsAA)
c.1592_1593delinsAA (p.Arg531Lys)
c.1646_1647delinsAA (p.Arg549Lys)
c.97-6076_97-6075delinsAA
c.335_336delinsAA (p.Arg112Lys)
n.133_134delinsAA
c.*968_*969delinsAA (n.*968_*969delinsAA)
c.133_134delinsAA
c.1676_1677delinsAA (p.Arg559Lys)
c.1571_1572delinsAA (p.Arg524Lys)
c.1562_1563delinsAA (p.Arg521Lys)
c.1523_1524delinsAA (p.Arg508Lys)
c.1469_1470delinsAA (p.Arg490Lys)
c.1373_1374delinsAA (p.Arg458Lys)
c.1343_1344delinsAA (p.Arg448Lys)
c.1268_1269delinsAA (p.Arg423Lys)
c.1166_1167delinsAA (p.Arg389Lys)
c.797_798delinsAA (p.Arg266Lys)
COSMIC
5g.112828876G>ACA16604744APCc.1409-6075G>A (n.1409-6075G>A)
c.1701G>A (p.Arg567=)
n.1703G>A
c.*1653G>A (n.*1653G>A)
c.1593G>A (p.Arg531=)
c.1647G>A (p.Arg549=)
c.97-6075G>A
c.336G>A (p.Arg112=)
n.134G>A
c.*969G>A (n.*969G>A)
c.134G>A
c.1677G>A (p.Arg559=)
c.1572G>A (p.Arg524=)
c.1563G>A (p.Arg521=)
c.1524G>A (p.Arg508=)
c.1470G>A (p.Arg490=)
c.1374G>A (p.Arg458=)
c.1344G>A (p.Arg448=)
c.1269G>A (p.Arg423=)
c.1167G>A (p.Arg389=)
c.798G>A (p.Arg266=)
ClinVar dbSNP gnomAD v4
5g.112828876G>CCA16024906APCc.1409-6075G>C (n.1409-6075G>C)
c.1701G>C (p.Arg567Ser)
n.1703G>C
c.*1653G>C (n.*1653G>C)
c.1593G>C (p.Arg531Ser)
c.1647G>C (p.Arg549Ser)
c.97-6075G>C
c.336G>C (p.Arg112Ser)
n.134G>C
c.*969G>C (n.*969G>C)
c.134G>C
c.1677G>C (p.Arg559Ser)
c.1572G>C (p.Arg524Ser)
c.1563G>C (p.Arg521Ser)
c.1524G>C (p.Arg508Ser)
c.1470G>C (p.Arg490Ser)
c.1374G>C (p.Arg458Ser)
c.1344G>C (p.Arg448Ser)
c.1269G>C (p.Arg423Ser)
c.1167G>C (p.Arg389Ser)
c.798G>C (p.Arg266Ser)
dbSNP
5g.112828876G=CA1573508640APCc.1409-6075G= (n.1409-6075G=)
c.1701G= (p.Arg567=)
n.1703G=
c.*1653G= (n.*1653G=)
c.1593G= (p.Arg531=)
c.1647G= (p.Arg549=)
c.97-6075G=
c.336G= (p.Arg112=)
n.134G=
c.*969G= (n.*969G=)
c.134G=
c.1677G= (p.Arg559=)
c.1572G= (p.Arg524=)
c.1563G= (p.Arg521=)
c.1524G= (p.Arg508=)
c.1470G= (p.Arg490=)
c.1374G= (p.Arg458=)
c.1344G= (p.Arg448=)
c.1269G= (p.Arg423=)
c.1167G= (p.Arg389=)
c.798G= (p.Arg266=)
5g.112828876G>TCA16024907APCc.1409-6075G>T (n.1409-6075G>T)
c.1701G>T (p.Arg567Ser)
n.1703G>T
c.*1653G>T (n.*1653G>T)
c.1593G>T (p.Arg531Ser)
c.1647G>T (p.Arg549Ser)
c.97-6075G>T
c.336G>T (p.Arg112Ser)
n.134G>T
c.*969G>T (n.*969G>T)
c.134G>T
c.1677G>T (p.Arg559Ser)
c.1572G>T (p.Arg524Ser)
c.1563G>T (p.Arg521Ser)
c.1524G>T (p.Arg508Ser)
c.1470G>T (p.Arg490Ser)
c.1374G>T (p.Arg458Ser)
c.1344G>T (p.Arg448Ser)
c.1269G>T (p.Arg423Ser)
c.1167G>T (p.Arg389Ser)
c.798G>T (p.Arg266Ser)
5g.112828877A>CCA16024908APCc.1409-6074A>C (n.1409-6074A>C)
c.1702A>C (p.Asn568His)
n.1704A>C
c.*1654A>C (n.*1654A>C)
c.1594A>C (p.Asn532His)
c.1648A>C (p.Asn550His)
c.97-6074A>C
c.337A>C (p.Asn113His)
n.135A>C
c.*970A>C (n.*970A>C)
c.135A>C
c.1678A>C (p.Asn560His)
c.1573A>C (p.Asn525His)
c.1564A>C (p.Asn522His)
c.1525A>C (p.Asn509His)
c.1471A>C (p.Asn491His)
c.1375A>C (p.Asn459His)
c.1345A>C (p.Asn449His)
c.1270A>C (p.Asn424His)
c.1168A>C (p.Asn390His)
c.799A>C (p.Asn267His)
5g.112828877A>GCA16024909APCc.1409-6074A>G (n.1409-6074A>G)
c.1702A>G (p.Asn568Asp)
n.1704A>G
c.*1654A>G (n.*1654A>G)
c.1594A>G (p.Asn532Asp)
c.1648A>G (p.Asn550Asp)
c.97-6074A>G
c.337A>G (p.Asn113Asp)
n.135A>G
c.*970A>G (n.*970A>G)
c.135A>G
c.1678A>G (p.Asn560Asp)
c.1573A>G (p.Asn525Asp)
c.1564A>G (p.Asn522Asp)
c.1525A>G (p.Asn509Asp)
c.1471A>G (p.Asn491Asp)
c.1375A>G (p.Asn459Asp)
c.1345A>G (p.Asn449Asp)
c.1270A>G (p.Asn424Asp)
c.1168A>G (p.Asn390Asp)
c.799A>G (p.Asn267Asp)
dbSNP
5g.112828877A>TCA16024910APCc.1409-6074A>T (n.1409-6074A>T)
c.1702A>T (p.Asn568Tyr)
n.1704A>T
c.*1654A>T (n.*1654A>T)
c.1594A>T (p.Asn532Tyr)
c.1648A>T (p.Asn550Tyr)
c.97-6074A>T
c.337A>T (p.Asn113Tyr)
n.135A>T
c.*970A>T (n.*970A>T)
c.135A>T
c.1678A>T (p.Asn560Tyr)
c.1573A>T (p.Asn525Tyr)
c.1564A>T (p.Asn522Tyr)
c.1525A>T (p.Asn509Tyr)
c.1471A>T (p.Asn491Tyr)
c.1375A>T (p.Asn459Tyr)
c.1345A>T (p.Asn449Tyr)
c.1270A>T (p.Asn424Tyr)
c.1168A>T (p.Asn390Tyr)
c.799A>T (p.Asn267Tyr)
ClinVar dbSNP
5g.112828878A>CCA16024911APCc.1409-6073A>C (n.1409-6073A>C)
c.1703A>C (p.Asn568Thr)
n.1705A>C
c.*1655A>C (n.*1655A>C)
c.1595A>C (p.Asn532Thr)
c.1649A>C (p.Asn550Thr)
c.97-6073A>C
c.338A>C (p.Asn113Thr)
n.136A>C
c.*971A>C (n.*971A>C)
c.136A>C
c.1679A>C (p.Asn560Thr)
c.1574A>C (p.Asn525Thr)
c.1565A>C (p.Asn522Thr)
c.1526A>C (p.Asn509Thr)
c.1472A>C (p.Asn491Thr)
c.1376A>C (p.Asn459Thr)
c.1346A>C (p.Asn449Thr)
c.1271A>C (p.Asn424Thr)
c.1169A>C (p.Asn390Thr)
c.800A>C (p.Asn267Thr)
5g.112828878A>GCA16024912APCc.1409-6073A>G (n.1409-6073A>G)
c.1703A>G (p.Asn568Ser)
n.1705A>G
c.*1655A>G (n.*1655A>G)
c.1595A>G (p.Asn532Ser)
c.1649A>G (p.Asn550Ser)
c.97-6073A>G
c.338A>G (p.Asn113Ser)
n.136A>G
c.*971A>G (n.*971A>G)
c.136A>G
c.1679A>G (p.Asn560Ser)
c.1574A>G (p.Asn525Ser)
c.1565A>G (p.Asn522Ser)
c.1526A>G (p.Asn509Ser)
c.1472A>G (p.Asn491Ser)
c.1376A>G (p.Asn459Ser)
c.1346A>G (p.Asn449Ser)
c.1271A>G (p.Asn424Ser)
c.1169A>G (p.Asn390Ser)
c.800A>G (p.Asn267Ser)
5g.112828878A>TCA16024913APCc.1409-6073A>T (n.1409-6073A>T)
c.1703A>T (p.Asn568Ile)
n.1705A>T
c.*1655A>T (n.*1655A>T)
c.1595A>T (p.Asn532Ile)
c.1649A>T (p.Asn550Ile)
c.97-6073A>T
c.338A>T (p.Asn113Ile)
n.136A>T
c.*971A>T (n.*971A>T)
c.136A>T
c.1679A>T (p.Asn560Ile)
c.1574A>T (p.Asn525Ile)
c.1565A>T (p.Asn522Ile)
c.1526A>T (p.Asn509Ile)
c.1472A>T (p.Asn491Ile)
c.1376A>T (p.Asn459Ile)
c.1346A>T (p.Asn449Ile)
c.1271A>T (p.Asn424Ile)
c.1169A>T (p.Asn390Ile)
c.800A>T (p.Asn267Ile)
5g.112828878_112828879delinsATCA1573508643APCc.1409-6073_1409-6072delinsAT (n.1409-6073_1409-6072delinsAT)
c.1703_1704delinsAT (p.Asn568=)
n.1705_1706delinsAT
c.*1655_*1656delinsAT (n.*1655_*1656delinsAT)
c.1595_1596delinsAT (p.Asn532=)
c.1649_1650delinsAT (p.Asn550=)
c.97-6073_97-6072delinsAT
c.338_339delinsAT (p.Asn113=)
n.136_137delinsAT
c.*971_*972delinsAT (n.*971_*972delinsAT)
c.136_137delinsAT
c.1679_1680delinsAT (p.Asn560=)
c.1574_1575delinsAT (p.Asn525=)
c.1565_1566delinsAT (p.Asn522=)
c.1526_1527delinsAT (p.Asn509=)
c.1472_1473delinsAT (p.Asn491=)
c.1376_1377delinsAT (p.Asn459=)
c.1346_1347delinsAT (p.Asn449=)
c.1271_1272delinsAT (p.Asn424=)
c.1169_1170delinsAT (p.Asn390=)
c.800_801delinsAT (p.Asn267=)
5g.112828879T>ACA16024914APCc.1409-6072T>A (n.1409-6072T>A)
c.1704T>A (p.Asn568Lys)
n.1706T>A
c.*1656T>A (n.*1656T>A)
c.1596T>A (p.Asn532Lys)
c.1650T>A (p.Asn550Lys)
c.97-6072T>A
c.339T>A (p.Asn113Lys)
n.137T>A
c.*972T>A (n.*972T>A)
c.137T>A
c.1680T>A (p.Asn560Lys)
c.1575T>A (p.Asn525Lys)
c.1566T>A (p.Asn522Lys)
c.1527T>A (p.Asn509Lys)
c.1473T>A (p.Asn491Lys)
c.1377T>A (p.Asn459Lys)
c.1347T>A (p.Asn449Lys)
c.1272T>A (p.Asn424Lys)
c.1170T>A (p.Asn390Lys)
c.801T>A (p.Asn267Lys)
5g.112828879T>CCA445757383APCc.1409-6072T>C (n.1409-6072T>C)
c.1704T>C (p.Asn568=)
n.1706T>C
c.*1656T>C (n.*1656T>C)
c.1596T>C (p.Asn532=)
c.1650T>C (p.Asn550=)
c.97-6072T>C
c.339T>C (p.Asn113=)
n.137T>C
c.*972T>C (n.*972T>C)
c.137T>C
c.1680T>C (p.Asn560=)
c.1575T>C (p.Asn525=)
c.1566T>C (p.Asn522=)
c.1527T>C (p.Asn509=)
c.1473T>C (p.Asn491=)
c.1377T>C (p.Asn459=)
c.1347T>C (p.Asn449=)
c.1272T>C (p.Asn424=)
c.1170T>C (p.Asn390=)
c.801T>C (p.Asn267=)
5g.112828879T>GCA16024915APCc.1409-6072T>G (n.1409-6072T>G)
c.1704T>G (p.Asn568Lys)
n.1706T>G
c.*1656T>G (n.*1656T>G)
c.1596T>G (p.Asn532Lys)
c.1650T>G (p.Asn550Lys)
c.97-6072T>G
c.339T>G (p.Asn113Lys)
n.137T>G
c.*972T>G (n.*972T>G)
c.137T>G
c.1680T>G (p.Asn560Lys)
c.1575T>G (p.Asn525Lys)
c.1566T>G (p.Asn522Lys)
c.1527T>G (p.Asn509Lys)
c.1473T>G (p.Asn491Lys)
c.1377T>G (p.Asn459Lys)
c.1347T>G (p.Asn449Lys)
c.1272T>G (p.Asn424Lys)
c.1170T>G (p.Asn390Lys)
c.801T>G (p.Asn267Lys)
5g.112828881delCA658822393APCc.1409-6070del (n.1409-6070del)
c.1706del (p.Leu569CysfsTer7)
n.1708del
c.*1658del (n.*1658del)
c.1598del (p.Leu533CysfsTer7)
c.1652del (p.Leu551CysfsTer7)
c.97-6070del
c.341del (p.Leu114CysfsTer7)
n.139del
c.*974del (n.*974del)
c.139del
c.1682del (p.Leu561CysfsTer7)
c.1577del (p.Leu526CysfsTer7)
c.1568del (p.Leu523CysfsTer7)
c.1529del (p.Leu510CysfsTer7)
c.1475del (p.Leu492CysfsTer7)
c.1379del (p.Leu460CysfsTer7)
c.1349del (p.Leu450CysfsTer7)
c.1274del (p.Leu425CysfsTer7)
c.1172del (p.Leu391CysfsTer7)
c.803del (p.Leu268CysfsTer7)
ClinVar dbSNP
5g.112828879_112828884delinsTTTGTCCA1573508653APCc.1409-6072_1409-6067delinsTTTGTC (n.1409-6072_1409-6067delinsTTTGTC)
c.1704_1709delinsTTTGTC (p.Asn568=)
n.1706_1711delinsTTTGTC
c.*1656_*1661delinsTTTGTC (n.*1656_*1661delinsTTTGTC)
c.1596_1601delinsTTTGTC (p.Asn532=)
c.1650_1655delinsTTTGTC (p.Asn550=)
c.97-6072_97-6067delinsTTTGTC
c.339_344delinsTTTGTC (p.Asn113=)
n.137_142delinsTTTGTC
c.*972_*977delinsTTTGTC (n.*972_*977delinsTTTGTC)
c.137_142delinsTTTGTC
c.1680_1685delinsTTTGTC (p.Asn560=)
c.1575_1580delinsTTTGTC (p.Asn525=)
c.1566_1571delinsTTTGTC (p.Asn522=)
c.1527_1532delinsTTTGTC (p.Asn509=)
c.1473_1478delinsTTTGTC (p.Asn491=)
c.1377_1382delinsTTTGTC (p.Asn459=)
c.1347_1352delinsTTTGTC (p.Asn449=)
c.1272_1277delinsTTTGTC (p.Asn424=)
c.1170_1175delinsTTTGTC (p.Asn390=)
c.801_806delinsTTTGTC (p.Asn267=)
5g.112828880T>ACA16024916APCc.1409-6071T>A (n.1409-6071T>A)
c.1705T>A (p.Leu569Met)
n.1707T>A
c.*1657T>A (n.*1657T>A)
c.1597T>A (p.Leu533Met)
c.1651T>A (p.Leu551Met)
c.97-6071T>A
c.340T>A (p.Leu114Met)
n.138T>A
c.*973T>A (n.*973T>A)
c.138T>A
c.1681T>A (p.Leu561Met)
c.1576T>A (p.Leu526Met)
c.1567T>A (p.Leu523Met)
c.1528T>A (p.Leu510Met)
c.1474T>A (p.Leu492Met)
c.1378T>A (p.Leu460Met)
c.1348T>A (p.Leu450Met)
c.1273T>A (p.Leu425Met)
c.1171T>A (p.Leu391Met)
c.802T>A (p.Leu268Met)
5g.112828880T>CCA445757384APCc.1409-6071T>C (n.1409-6071T>C)
c.1705T>C (p.Leu569=)
n.1707T>C
c.*1657T>C (n.*1657T>C)
c.1597T>C (p.Leu533=)
c.1651T>C (p.Leu551=)
c.97-6071T>C
c.340T>C (p.Leu114=)
n.138T>C
c.*973T>C (n.*973T>C)
c.138T>C
c.1681T>C (p.Leu561=)
c.1576T>C (p.Leu526=)
c.1567T>C (p.Leu523=)
c.1528T>C (p.Leu510=)
c.1474T>C (p.Leu492=)
c.1378T>C (p.Leu460=)
c.1348T>C (p.Leu450=)
c.1273T>C (p.Leu425=)
c.1171T>C (p.Leu391=)
c.802T>C (p.Leu268=)
ClinVar
5g.112828880T>GCA16024917APCc.1409-6071T>G (n.1409-6071T>G)
c.1705T>G (p.Leu569Val)
n.1707T>G
c.*1657T>G (n.*1657T>G)
c.1597T>G (p.Leu533Val)
c.1651T>G (p.Leu551Val)
c.97-6071T>G
c.340T>G (p.Leu114Val)
n.138T>G
c.*973T>G (n.*973T>G)
c.138T>G
c.1681T>G (p.Leu561Val)
c.1576T>G (p.Leu526Val)
c.1567T>G (p.Leu523Val)
c.1528T>G (p.Leu510Val)
c.1474T>G (p.Leu492Val)
c.1378T>G (p.Leu460Val)
c.1348T>G (p.Leu450Val)
c.1273T>G (p.Leu425Val)
c.1171T>G (p.Leu391Val)
c.802T>G (p.Leu268Val)
5g.112828883_112828887delCA10578322APCc.1409-6068_1409-6064del (n.1409-6068_1409-6064del)
c.1708_1712del (p.Ser570AlafsTer6)
n.1710_1714del
c.*1660_*1664del (n.*1660_*1664del)
c.1600_1604del (p.Ser534AlafsTer6)
c.1654_1658del (p.Ser552AlafsTer6)
c.97-6068_97-6064del
c.343_347del (p.Ser115AlafsTer6)
n.141_145del
c.*976_*980del (n.*976_*980del)
c.141_145del
c.1684_1688del (p.Ser562AlafsTer6)
c.1579_1583del (p.Ser527AlafsTer6)
c.1570_1574del (p.Ser524AlafsTer6)
c.1531_1535del (p.Ser511AlafsTer6)
c.1477_1481del (p.Ser493AlafsTer6)
c.1381_1385del (p.Ser461AlafsTer6)
c.1351_1355del (p.Ser451AlafsTer6)
c.1276_1280del (p.Ser426AlafsTer6)
c.1174_1178del (p.Ser392AlafsTer6)
c.805_809del (p.Ser269AlafsTer6)
ClinVar dbSNP
5g.112828881T>ACA16024918APCc.1409-6070T>A (n.1409-6070T>A)
c.1706T>A (p.Leu569Ter)
n.1708T>A
c.*1658T>A (n.*1658T>A)
c.1598T>A (p.Leu533Ter)
c.1652T>A (p.Leu551Ter)
c.97-6070T>A
c.341T>A (p.Leu114Ter)
n.139T>A
c.*974T>A (n.*974T>A)
c.139T>A
c.1682T>A (p.Leu561Ter)
c.1577T>A (p.Leu526Ter)
c.1568T>A (p.Leu523Ter)
c.1529T>A (p.Leu510Ter)
c.1475T>A (p.Leu492Ter)
c.1379T>A (p.Leu460Ter)
c.1349T>A (p.Leu450Ter)
c.1274T>A (p.Leu425Ter)
c.1172T>A (p.Leu391Ter)
c.803T>A (p.Leu268Ter)
ClinVar dbSNP
5g.112828881T>CCA16024919APCc.1409-6070T>C (n.1409-6070T>C)
c.1706T>C (p.Leu569Ser)
n.1708T>C
c.*1658T>C (n.*1658T>C)
c.1598T>C (p.Leu533Ser)
c.1652T>C (p.Leu551Ser)
c.97-6070T>C
c.341T>C (p.Leu114Ser)
n.139T>C
c.*974T>C (n.*974T>C)
c.139T>C
c.1682T>C (p.Leu561Ser)
c.1577T>C (p.Leu526Ser)
c.1568T>C (p.Leu523Ser)
c.1529T>C (p.Leu510Ser)
c.1475T>C (p.Leu492Ser)
c.1379T>C (p.Leu460Ser)
c.1349T>C (p.Leu450Ser)
c.1274T>C (p.Leu425Ser)
c.1172T>C (p.Leu391Ser)
c.803T>C (p.Leu268Ser)
5g.112828881T>GCA16024920APCc.1409-6070T>G (n.1409-6070T>G)
c.1706T>G (p.Leu569Trp)
n.1708T>G
c.*1658T>G (n.*1658T>G)
c.1598T>G (p.Leu533Trp)
c.1652T>G (p.Leu551Trp)
c.97-6070T>G
c.341T>G (p.Leu114Trp)
n.139T>G
c.*974T>G (n.*974T>G)
c.139T>G
c.1682T>G (p.Leu561Trp)
c.1577T>G (p.Leu526Trp)
c.1568T>G (p.Leu523Trp)
c.1529T>G (p.Leu510Trp)
c.1475T>G (p.Leu492Trp)
c.1379T>G (p.Leu460Trp)
c.1349T>G (p.Leu450Trp)
c.1274T>G (p.Leu425Trp)
c.1172T>G (p.Leu391Trp)
c.803T>G (p.Leu268Trp)
5g.112828882G>ACA445757385APCc.1409-6069G>A (n.1409-6069G>A)
c.1707G>A (p.Leu569=)
n.1709G>A
c.*1659G>A (n.*1659G>A)
c.1599G>A (p.Leu533=)
c.1653G>A (p.Leu551=)
c.97-6069G>A
c.342G>A (p.Leu114=)
n.140G>A
c.*975G>A (n.*975G>A)
c.140G>A
c.1683G>A (p.Leu561=)
c.1578G>A (p.Leu526=)
c.1569G>A (p.Leu523=)
c.1530G>A (p.Leu510=)
c.1476G>A (p.Leu492=)
c.1380G>A (p.Leu460=)
c.1350G>A (p.Leu450=)
c.1275G>A (p.Leu425=)
c.1173G>A (p.Leu391=)
c.804G>A (p.Leu268=)
ClinVar gnomAD v4
5g.112828882G>CCA16024921APCc.1409-6069G>C (n.1409-6069G>C)
c.1707G>C (p.Leu569Phe)
n.1709G>C
c.*1659G>C (n.*1659G>C)
c.1599G>C (p.Leu533Phe)
c.1653G>C (p.Leu551Phe)
c.97-6069G>C
c.342G>C (p.Leu114Phe)
n.140G>C
c.*975G>C (n.*975G>C)
c.140G>C
c.1683G>C (p.Leu561Phe)
c.1578G>C (p.Leu526Phe)
c.1569G>C (p.Leu523Phe)
c.1530G>C (p.Leu510Phe)
c.1476G>C (p.Leu492Phe)
c.1380G>C (p.Leu460Phe)
c.1350G>C (p.Leu450Phe)
c.1275G>C (p.Leu425Phe)
c.1173G>C (p.Leu391Phe)
c.804G>C (p.Leu268Phe)
dbSNP
5g.112828882G>TCA16024922APCc.1409-6069G>T (n.1409-6069G>T)
c.1707G>T (p.Leu569Phe)
n.1709G>T
c.*1659G>T (n.*1659G>T)
c.1599G>T (p.Leu533Phe)
c.1653G>T (p.Leu551Phe)
c.97-6069G>T
c.342G>T (p.Leu114Phe)
n.140G>T
c.*975G>T (n.*975G>T)
c.140G>T
c.1683G>T (p.Leu561Phe)
c.1578G>T (p.Leu526Phe)
c.1569G>T (p.Leu523Phe)
c.1530G>T (p.Leu510Phe)
c.1476G>T (p.Leu492Phe)
c.1380G>T (p.Leu460Phe)
c.1350G>T (p.Leu450Phe)
c.1275G>T (p.Leu425Phe)
c.1173G>T (p.Leu391Phe)
c.804G>T (p.Leu268Phe)
dbSNP
5g.112828883_112828892delCA658760511APCc.1409-6068_1409-6059del (n.1409-6068_1409-6059del)
c.1708_1717del (p.Ser570GlnfsTer3)
n.1710_1719del
c.*1660_*1669del (n.*1660_*1669del)
c.1600_1609del (p.Ser534GlnfsTer3)
c.1654_1663del (p.Ser552GlnfsTer3)
c.97-6068_97-6059del
c.343_352del (p.Ser115GlnfsTer3)
n.141_150del
c.*976_*985del (n.*976_*985del)
c.141_150del
c.1684_1693del (p.Ser562GlnfsTer3)
c.1579_1588del (p.Ser527GlnfsTer3)
c.1570_1579del (p.Ser524GlnfsTer3)
c.1531_1540del (p.Ser511GlnfsTer3)
c.1477_1486del (p.Ser493GlnfsTer3)
c.1381_1390del (p.Ser461GlnfsTer3)
c.1351_1360del (p.Ser451GlnfsTer3)
c.1276_1285del (p.Ser426GlnfsTer3)
c.1174_1183del (p.Ser392GlnfsTer3)
c.805_814del (p.Ser269GlnfsTer3)
5g.112828883T>ACA16024923APCc.1409-6068T>A (n.1409-6068T>A)
c.1708T>A (p.Ser570Thr)
n.1710T>A
c.*1660T>A (n.*1660T>A)
c.1600T>A (p.Ser534Thr)
c.1654T>A (p.Ser552Thr)
c.97-6068T>A
c.343T>A (p.Ser115Thr)
n.141T>A
c.*976T>A (n.*976T>A)
c.141T>A
c.1684T>A (p.Ser562Thr)
c.1579T>A (p.Ser527Thr)
c.1570T>A (p.Ser524Thr)
c.1531T>A (p.Ser511Thr)
c.1477T>A (p.Ser493Thr)
c.1381T>A (p.Ser461Thr)
c.1351T>A (p.Ser451Thr)
c.1276T>A (p.Ser426Thr)
c.1174T>A (p.Ser392Thr)
c.805T>A (p.Ser269Thr)
dbSNP
5g.112828883T>CCA16024924APCc.1409-6068T>C (n.1409-6068T>C)
c.1708T>C (p.Ser570Pro)
n.1710T>C
c.*1660T>C (n.*1660T>C)
c.1600T>C (p.Ser534Pro)
c.1654T>C (p.Ser552Pro)
c.97-6068T>C
c.343T>C (p.Ser115Pro)
n.141T>C
c.*976T>C (n.*976T>C)
c.141T>C
c.1684T>C (p.Ser562Pro)
c.1579T>C (p.Ser527Pro)
c.1570T>C (p.Ser524Pro)
c.1531T>C (p.Ser511Pro)
c.1477T>C (p.Ser493Pro)
c.1381T>C (p.Ser461Pro)
c.1351T>C (p.Ser451Pro)
c.1276T>C (p.Ser426Pro)
c.1174T>C (p.Ser392Pro)
c.805T>C (p.Ser269Pro)
5g.112828883T>GCA16024925APCc.1409-6068T>G (n.1409-6068T>G)
c.1708T>G (p.Ser570Ala)
n.1710T>G
c.*1660T>G (n.*1660T>G)
c.1600T>G (p.Ser534Ala)
c.1654T>G (p.Ser552Ala)
c.97-6068T>G
c.343T>G (p.Ser115Ala)
n.141T>G
c.*976T>G (n.*976T>G)
c.141T>G
c.1684T>G (p.Ser562Ala)
c.1579T>G (p.Ser527Ala)
c.1570T>G (p.Ser524Ala)
c.1531T>G (p.Ser511Ala)
c.1477T>G (p.Ser493Ala)
c.1381T>G (p.Ser461Ala)
c.1351T>G (p.Ser451Ala)
c.1276T>G (p.Ser426Ala)
c.1174T>G (p.Ser392Ala)
c.805T>G (p.Ser269Ala)

Number of alleles fetched