Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23330948_23330953delinsCTTCTTCA2078628828SACSc.12923_12928delinsAAGAAG (p.Lys4308=)
c.2186-1469_2186-1464delinsAAGAAG (p.=)
c.2432-1469_2432-1464delinsAAGAAG (p.=)
c.10673_10678delinsAAGAAG (p.Lys3558=)
n.1058-1469_1058-1464delinsAAGAAG (p.=)
n.2130-1469_2130-1464delinsAAGAAG
c.12482_12487delinsAAGAAG (p.Lys4161=)
c.12950_12955delinsAAGAAG (p.Lys4317=)
c.12974_12979delinsAAGAAG (p.Lys4325=)
c.12941_12946delinsAAGAAG (p.Lys4314=)
c.12914_12919delinsAAGAAG (p.Lys4305=)
13g.23330951_23330955delCA16041598SACSc.12923_12927del (p.Lys4308SerfsTer21)
c.2186-1469_2186-1465del (p.=)
c.2432-1469_2432-1465del (p.=)
c.10673_10677del (p.Lys3558SerfsTer21)
n.1058-1469_1058-1465del (p.=)
n.2130-1469_2130-1465del
c.12482_12486del (p.Lys4161SerfsTer21)
c.12950_12954del (p.Lys4317SerfsTer21)
c.12974_12978del (p.Lys4325SerfsTer21)
c.12941_12945del (p.Lys4314SerfsTer21)
c.12914_12918del (p.Lys4305SerfsTer21)
ClinVar dbSNP gnomAD
13g.23330951C>ACA387506448SACSc.12925G>T (p.Glu4309Ter)
c.2186-1467G>T (p.=)
c.2432-1467G>T (p.=)
c.10675G>T (p.Glu3559Ter)
n.1058-1467G>T (p.=)
n.2130-1467G>T
c.12484G>T (p.Glu4162Ter)
c.12952G>T (p.Glu4318Ter)
c.12976G>T (p.Glu4326Ter)
c.12943G>T (p.Glu4315Ter)
c.12916G>T (p.Glu4306Ter)
COSMIC COSMIC
13g.23330951C>GCA387506450SACSc.12925G>C (p.Glu4309Gln)
c.2186-1467G>C (p.=)
c.2432-1467G>C (p.=)
c.10675G>C (p.Glu3559Gln)
n.1058-1467G>C (p.=)
n.2130-1467G>C
c.12484G>C (p.Glu4162Gln)
c.12952G>C (p.Glu4318Gln)
c.12976G>C (p.Glu4326Gln)
c.12943G>C (p.Glu4315Gln)
c.12916G>C (p.Glu4306Gln)
13g.23330951C>TCA387506451SACSc.12925G>A (p.Glu4309Lys)
c.2186-1467G>A (p.=)
c.2432-1467G>A (p.=)
c.10675G>A (p.Glu3559Lys)
n.1058-1467G>A (p.=)
n.2130-1467G>A
c.12484G>A (p.Glu4162Lys)
c.12952G>A (p.Glu4318Lys)
c.12976G>A (p.Glu4326Lys)
c.12943G>A (p.Glu4315Lys)
c.12916G>A (p.Glu4306Lys)
COSMIC COSMIC
13g.23330952T>ACA387506454SACSc.12924A>T (p.Lys4308Asn)
c.2186-1468A>T (p.=)
c.2432-1468A>T (p.=)
c.10674A>T (p.Lys3558Asn)
n.1058-1468A>T (p.=)
n.2130-1468A>T
c.12483A>T (p.Lys4161Asn)
c.12951A>T (p.Lys4317Asn)
c.12975A>T (p.Lys4325Asn)
c.12942A>T (p.Lys4314Asn)
c.12915A>T (p.Lys4305Asn)
13g.23330952T>CCA483157774SACSc.12924A>G (p.Lys4308=)
c.2186-1468A>G (p.=)
c.2432-1468A>G (p.=)
c.10674A>G (p.Lys3558=)
n.1058-1468A>G (p.=)
n.2130-1468A>G
c.12483A>G (p.Lys4161=)
c.12951A>G (p.Lys4317=)
c.12975A>G (p.Lys4325=)
c.12942A>G (p.Lys4314=)
c.12915A>G (p.Lys4305=)
13g.23330952T>GCA387506456SACSc.12924A>C (p.Lys4308Asn)
c.2186-1468A>C (p.=)
c.2432-1468A>C (p.=)
c.10674A>C (p.Lys3558Asn)
n.1058-1468A>C (p.=)
n.2130-1468A>C
c.12483A>C (p.Lys4161Asn)
c.12951A>C (p.Lys4317Asn)
c.12975A>C (p.Lys4325Asn)
c.12942A>C (p.Lys4314Asn)
c.12915A>C (p.Lys4305Asn)
13g.23330952_23330955delCA645591576SACSc.12921_12924del (p.Glu4309Ter)
c.2186-1471_2186-1468del (p.=)
c.2432-1471_2432-1468del (p.=)
c.10671_10674del (p.Glu3559Ter)
n.1058-1471_1058-1468del (p.=)
n.2130-1471_2130-1468del
c.12480_12483del (p.Glu4162Ter)
c.12948_12951del (p.Glu4318Ter)
c.12972_12975del (p.Glu4326Ter)
c.12939_12942del (p.Glu4315Ter)
c.12912_12915del (p.Glu4306Ter)
COSMIC COSMIC
13g.23330953T>ACA387506458SACSc.12923A>T (p.Lys4308Ile)
c.2186-1469A>T (p.=)
c.2432-1469A>T (p.=)
c.10673A>T (p.Lys3558Ile)
n.1058-1469A>T (p.=)
n.2130-1469A>T
c.12482A>T (p.Lys4161Ile)
c.12950A>T (p.Lys4317Ile)
c.12974A>T (p.Lys4325Ile)
c.12941A>T (p.Lys4314Ile)
c.12914A>T (p.Lys4305Ile)
13g.23330953T>CCA387506460SACSc.12923A>G (p.Lys4308Arg)
c.2186-1469A>G (p.=)
c.2432-1469A>G (p.=)
c.10673A>G (p.Lys3558Arg)
n.1058-1469A>G (p.=)
n.2130-1469A>G
c.12482A>G (p.Lys4161Arg)
c.12950A>G (p.Lys4317Arg)
c.12974A>G (p.Lys4325Arg)
c.12941A>G (p.Lys4314Arg)
c.12914A>G (p.Lys4305Arg)
13g.23330953T>GCA387506462SACSc.12923A>C (p.Lys4308Thr)
c.2186-1469A>C (p.=)
c.2432-1469A>C (p.=)
c.10673A>C (p.Lys3558Thr)
n.1058-1469A>C (p.=)
n.2130-1469A>C
c.12482A>C (p.Lys4161Thr)
c.12950A>C (p.Lys4317Thr)
c.12974A>C (p.Lys4325Thr)
c.12941A>C (p.Lys4314Thr)
c.12914A>C (p.Lys4305Thr)
13g.23330954T>ACA387506465SACSc.12922A>T (p.Lys4308Ter)
c.2186-1470A>T (p.=)
c.2432-1470A>T (p.=)
c.10672A>T (p.Lys3558Ter)
n.1058-1470A>T (p.=)
n.2130-1470A>T
c.12481A>T (p.Lys4161Ter)
c.12949A>T (p.Lys4317Ter)
c.12973A>T (p.Lys4325Ter)
c.12940A>T (p.Lys4314Ter)
c.12913A>T (p.Lys4305Ter)
13g.23330954T>CCA387506467SACSc.12922A>G (p.Lys4308Glu)
c.2186-1470A>G (p.=)
c.2432-1470A>G (p.=)
c.10672A>G (p.Lys3558Glu)
n.1058-1470A>G (p.=)
n.2130-1470A>G
c.12481A>G (p.Lys4161Glu)
c.12949A>G (p.Lys4317Glu)
c.12973A>G (p.Lys4325Glu)
c.12940A>G (p.Lys4314Glu)
c.12913A>G (p.Lys4305Glu)
13g.23330954T>GCA387506468SACSc.12922A>C (p.Lys4308Gln)
c.2186-1470A>C (p.=)
c.2432-1470A>C (p.=)
c.10672A>C (p.Lys3558Gln)
n.1058-1470A>C (p.=)
n.2130-1470A>C
c.12481A>C (p.Lys4161Gln)
c.12949A>C (p.Lys4317Gln)
c.12973A>C (p.Lys4325Gln)
c.12940A>C (p.Lys4314Gln)
c.12913A>C (p.Lys4305Gln)
13g.23330954T=CA2078628837SACSc.12922A= (p.Lys4308=)
c.2186-1470A= (p.=)
c.2432-1470A= (p.=)
c.10672A= (p.Lys3558=)
n.1058-1470A= (p.=)
n.2130-1470A=
c.12481A= (p.Lys4161=)
c.12949A= (p.Lys4317=)
c.12973A= (p.Lys4325=)
c.12940A= (p.Lys4314=)
c.12913A= (p.Lys4305=)
13g.23330955T>ACA387506473SACSc.12921A>T (p.Leu4307Phe)
c.2186-1471A>T (p.=)
c.2432-1471A>T (p.=)
c.10671A>T (p.Leu3557Phe)
n.1058-1471A>T (p.=)
n.2130-1471A>T
c.12480A>T (p.Leu4160Phe)
c.12948A>T (p.Leu4316Phe)
c.12972A>T (p.Leu4324Phe)
c.12939A>T (p.Leu4313Phe)
c.12912A>T (p.Leu4304Phe)
13g.23330955T>CCA483157779SACSc.12921A>G (p.Leu4307=)
c.2186-1471A>G (p.=)
c.2432-1471A>G (p.=)
c.10671A>G (p.Leu3557=)
n.1058-1471A>G (p.=)
n.2130-1471A>G
c.12480A>G (p.Leu4160=)
c.12948A>G (p.Leu4316=)
c.12972A>G (p.Leu4324=)
c.12939A>G (p.Leu4313=)
c.12912A>G (p.Leu4304=)
13g.23330955T>GCA387506471SACSc.12921A>C (p.Leu4307Phe)
c.2186-1471A>C (p.=)
c.2432-1471A>C (p.=)
c.10671A>C (p.Leu3557Phe)
n.1058-1471A>C (p.=)
n.2130-1471A>C
c.12480A>C (p.Leu4160Phe)
c.12948A>C (p.Leu4316Phe)
c.12972A>C (p.Leu4324Phe)
c.12939A>C (p.Leu4313Phe)
c.12912A>C (p.Leu4304Phe)
13g.23330956A>CCA387506476SACSc.12920T>G (p.Leu4307Ter)
c.2186-1472T>G (p.=)
c.2432-1472T>G (p.=)
c.10670T>G (p.Leu3557Ter)
n.1058-1472T>G (p.=)
n.2130-1472T>G
c.12479T>G (p.Leu4160Ter)
c.12947T>G (p.Leu4316Ter)
c.12971T>G (p.Leu4324Ter)
c.12938T>G (p.Leu4313Ter)
c.12911T>G (p.Leu4304Ter)
13g.23330956A>GCA387506478SACSc.12920T>C (p.Leu4307Ser)
c.2186-1472T>C (p.=)
c.2432-1472T>C (p.=)
c.10670T>C (p.Leu3557Ser)
n.1058-1472T>C (p.=)
n.2130-1472T>C
c.12479T>C (p.Leu4160Ser)
c.12947T>C (p.Leu4316Ser)
c.12971T>C (p.Leu4324Ser)
c.12938T>C (p.Leu4313Ser)
c.12911T>C (p.Leu4304Ser)
13g.23330956A>TCA387506480SACSc.12920T>A (p.Leu4307Ter)
c.2186-1472T>A (p.=)
c.2432-1472T>A (p.=)
c.10670T>A (p.Leu3557Ter)
n.1058-1472T>A (p.=)
n.2130-1472T>A
c.12479T>A (p.Leu4160Ter)
c.12947T>A (p.Leu4316Ter)
c.12971T>A (p.Leu4324Ter)
c.12938T>A (p.Leu4313Ter)
c.12911T>A (p.Leu4304Ter)
13g.23330957A>CCA387506482SACSc.12919T>G (p.Leu4307Val)
c.2186-1473T>G (p.=)
c.2432-1473T>G (p.=)
c.10669T>G (p.Leu3557Val)
n.1058-1473T>G (p.=)
n.2130-1473T>G
c.12478T>G (p.Leu4160Val)
c.12946T>G (p.Leu4316Val)
c.12970T>G (p.Leu4324Val)
c.12937T>G (p.Leu4313Val)
c.12910T>G (p.Leu4304Val)
13g.23330957A>GCA483157783SACSc.12919T>C (p.Leu4307=)
c.2186-1473T>C (p.=)
c.2432-1473T>C (p.=)
c.10669T>C (p.Leu3557=)
n.1058-1473T>C (p.=)
n.2130-1473T>C
c.12478T>C (p.Leu4160=)
c.12946T>C (p.Leu4316=)
c.12970T>C (p.Leu4324=)
c.12937T>C (p.Leu4313=)
c.12910T>C (p.Leu4304=)
13g.23330957A>TCA387506484SACSc.12919T>A (p.Leu4307Ile)
c.2186-1473T>A (p.=)
c.2432-1473T>A (p.=)
c.10669T>A (p.Leu3557Ile)
n.1058-1473T>A (p.=)
n.2130-1473T>A
c.12478T>A (p.Leu4160Ile)
c.12946T>A (p.Leu4316Ile)
c.12970T>A (p.Leu4324Ile)
c.12937T>A (p.Leu4313Ile)
c.12910T>A (p.Leu4304Ile)
13g.23330958G>ACA483157785SACSc.12918C>T (p.Ile4306=)
c.2186-1474C>T (p.=)
c.2432-1474C>T (p.=)
c.10668C>T (p.Ile3556=)
n.1058-1474C>T (p.=)
n.2130-1474C>T
c.12477C>T (p.Ile4159=)
c.12945C>T (p.Ile4315=)
c.12969C>T (p.Ile4323=)
c.12936C>T (p.Ile4312=)
c.12909C>T (p.Ile4303=)
13g.23330958G>CCA387506487SACSc.12918C>G (p.Ile4306Met)
c.2186-1474C>G (p.=)
c.2432-1474C>G (p.=)
c.10668C>G (p.Ile3556Met)
n.1058-1474C>G (p.=)
n.2130-1474C>G
c.12477C>G (p.Ile4159Met)
c.12945C>G (p.Ile4315Met)
c.12969C>G (p.Ile4323Met)
c.12936C>G (p.Ile4312Met)
c.12909C>G (p.Ile4303Met)
13g.23330958G=CA2078628841SACSc.12918C= (p.Ile4306=)
c.2186-1474C= (p.=)
c.2432-1474C= (p.=)
c.10668C= (p.Ile3556=)
n.1058-1474C= (p.=)
n.2130-1474C=
c.12477C= (p.Ile4159=)
c.12945C= (p.Ile4315=)
c.12969C= (p.Ile4323=)
c.12936C= (p.Ile4312=)
c.12909C= (p.Ile4303=)
13g.23330958G>TCA483157786SACSc.12918C>A (p.Ile4306=)
c.2186-1474C>A (p.=)
c.2432-1474C>A (p.=)
c.10668C>A (p.Ile3556=)
n.1058-1474C>A (p.=)
n.2130-1474C>A
c.12477C>A (p.Ile4159=)
c.12945C>A (p.Ile4315=)
c.12969C>A (p.Ile4323=)
c.12936C>A (p.Ile4312=)
c.12909C>A (p.Ile4303=)
13g.23330958_23330959insTGTCCCTGCTTTGAGAGCTTTCCTCAGGTCTTGAAAACTTATACAGATCAAGAGAGCTAACTATTTTATCA608985217SACSc.12917_12918insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA (p.Ile4307Ter)
c.2186-1475_2186-1474insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA (p.=)
c.2432-1475_2432-1474insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA (p.=)
c.10667_10668insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA (p.Ile3557Ter)
n.1058-1475_1058-1474insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA (p.=)
n.2130-1475_2130-1474insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA
c.12476_12477insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA (p.Ile4160Ter)
c.12944_12945insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA (p.Ile4316Ter)
c.12968_12969insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA (p.Ile4324Ter)
c.12935_12936insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA (p.Ile4313Ter)
c.12908_12909insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA (p.Ile4304Ter)
dbSNP gnomAD
13g.23330959A>CCA387506492SACSc.12917T>G (p.Ile4306Ser)
c.2186-1475T>G (p.=)
c.2432-1475T>G (p.=)
c.10667T>G (p.Ile3556Ser)
n.1058-1475T>G (p.=)
n.2130-1475T>G
c.12476T>G (p.Ile4159Ser)
c.12944T>G (p.Ile4315Ser)
c.12968T>G (p.Ile4323Ser)
c.12935T>G (p.Ile4312Ser)
c.12908T>G (p.Ile4303Ser)
13g.23330959A>GCA387506489SACSc.12917T>C (p.Ile4306Thr)
c.2186-1475T>C (p.=)
c.2432-1475T>C (p.=)
c.10667T>C (p.Ile3556Thr)
n.1058-1475T>C (p.=)
n.2130-1475T>C
c.12476T>C (p.Ile4159Thr)
c.12944T>C (p.Ile4315Thr)
c.12968T>C (p.Ile4323Thr)
c.12935T>C (p.Ile4312Thr)
c.12908T>C (p.Ile4303Thr)
13g.23330959A>TCA387506490SACSc.12917T>A (p.Ile4306Asn)
c.2186-1475T>A (p.=)
c.2432-1475T>A (p.=)
c.10667T>A (p.Ile3556Asn)
n.1058-1475T>A (p.=)
n.2130-1475T>A
c.12476T>A (p.Ile4159Asn)
c.12944T>A (p.Ile4315Asn)
c.12968T>A (p.Ile4323Asn)
c.12935T>A (p.Ile4312Asn)
c.12908T>A (p.Ile4303Asn)
13g.23330960T>ACA387506495SACSc.12916A>T (p.Ile4306Phe)
c.2186-1476A>T (p.=)
c.2432-1476A>T (p.=)
c.10666A>T (p.Ile3556Phe)
n.1058-1476A>T (p.=)
n.2130-1476A>T
c.12475A>T (p.Ile4159Phe)
c.12943A>T (p.Ile4315Phe)
c.12967A>T (p.Ile4323Phe)
c.12934A>T (p.Ile4312Phe)
c.12907A>T (p.Ile4303Phe)
13g.23330960T>CCA6910050SACSc.12916A>G (p.Ile4306Val)
c.2186-1476A>G (p.=)
c.2432-1476A>G (p.=)
c.10666A>G (p.Ile3556Val)
n.1058-1476A>G (p.=)
n.2130-1476A>G
c.12475A>G (p.Ile4159Val)
c.12943A>G (p.Ile4315Val)
c.12967A>G (p.Ile4323Val)
c.12934A>G (p.Ile4312Val)
c.12907A>G (p.Ile4303Val)
dbSNP ExAC gnomAD
13g.23330960T>GCA387506497SACSc.12916A>C (p.Ile4306Leu)
c.2186-1476A>C (p.=)
c.2432-1476A>C (p.=)
c.10666A>C (p.Ile3556Leu)
n.1058-1476A>C (p.=)
n.2130-1476A>C
c.12475A>C (p.Ile4159Leu)
c.12943A>C (p.Ile4315Leu)
c.12967A>C (p.Ile4323Leu)
c.12934A>C (p.Ile4312Leu)
c.12907A>C (p.Ile4303Leu)
13g.23330960T=CA2078628845SACSc.12916A= (p.Ile4306=)
c.2186-1476A= (p.=)
c.2432-1476A= (p.=)
c.10666A= (p.Ile3556=)
n.1058-1476A= (p.=)
n.2130-1476A=
c.12475A= (p.Ile4159=)
c.12943A= (p.Ile4315=)
c.12967A= (p.Ile4323=)
c.12934A= (p.Ile4312=)
c.12907A= (p.Ile4303=)
13g.23330961T>ACA387506500SACSc.12915A>T (p.Glu4305Asp)
c.2186-1477A>T (p.=)
c.2432-1477A>T (p.=)
c.10665A>T (p.Glu3555Asp)
n.1058-1477A>T (p.=)
n.2130-1477A>T
c.12474A>T (p.Glu4158Asp)
c.12942A>T (p.Glu4314Asp)
c.12966A>T (p.Glu4322Asp)
c.12933A>T (p.Glu4311Asp)
c.12906A>T (p.Glu4302Asp)
13g.23330961T>CCA483157787SACSc.12915A>G (p.Glu4305=)
c.2186-1477A>G (p.=)
c.2432-1477A>G (p.=)
c.10665A>G (p.Glu3555=)
n.1058-1477A>G (p.=)
n.2130-1477A>G
c.12474A>G (p.Glu4158=)
c.12942A>G (p.Glu4314=)
c.12966A>G (p.Glu4322=)
c.12933A>G (p.Glu4311=)
c.12906A>G (p.Glu4302=)
13g.23330961T>GCA387506502SACSc.12915A>C (p.Glu4305Asp)
c.2186-1477A>C (p.=)
c.2432-1477A>C (p.=)
c.10665A>C (p.Glu3555Asp)
n.1058-1477A>C (p.=)
n.2130-1477A>C
c.12474A>C (p.Glu4158Asp)
c.12942A>C (p.Glu4314Asp)
c.12966A>C (p.Glu4322Asp)
c.12933A>C (p.Glu4311Asp)
c.12906A>C (p.Glu4302Asp)
13g.23330962T>ACA387506507SACSc.12914A>T (p.Glu4305Val)
c.2186-1478A>T (p.=)
c.2432-1478A>T (p.=)
c.10664A>T (p.Glu3555Val)
n.1058-1478A>T (p.=)
n.2130-1478A>T
c.12473A>T (p.Glu4158Val)
c.12941A>T (p.Glu4314Val)
c.12965A>T (p.Glu4322Val)
c.12932A>T (p.Glu4311Val)
c.12905A>T (p.Glu4302Val)
13g.23330962T>CCA6910051SACSc.12914A>G (p.Glu4305Gly)
c.2186-1478A>G (p.=)
c.2432-1478A>G (p.=)
c.10664A>G (p.Glu3555Gly)
n.1058-1478A>G (p.=)
n.2130-1478A>G
c.12473A>G (p.Glu4158Gly)
c.12941A>G (p.Glu4314Gly)
c.12965A>G (p.Glu4322Gly)
c.12932A>G (p.Glu4311Gly)
c.12905A>G (p.Glu4302Gly)
dbSNP ExAC gnomAD
13g.23330962T>GCA387506505SACSc.12914A>C (p.Glu4305Ala)
c.2186-1478A>C (p.=)
c.2432-1478A>C (p.=)
c.10664A>C (p.Glu3555Ala)
n.1058-1478A>C (p.=)
n.2130-1478A>C
c.12473A>C (p.Glu4158Ala)
c.12941A>C (p.Glu4314Ala)
c.12965A>C (p.Glu4322Ala)
c.12932A>C (p.Glu4311Ala)
c.12905A>C (p.Glu4302Ala)
13g.23330962T=CA2078628846SACSc.12914A= (p.Glu4305=)
c.2186-1478A= (p.=)
c.2432-1478A= (p.=)
c.10664A= (p.Glu3555=)
n.1058-1478A= (p.=)
n.2130-1478A=
c.12473A= (p.Glu4158=)
c.12941A= (p.Glu4314=)
c.12965A= (p.Glu4322=)
c.12932A= (p.Glu4311=)
c.12905A= (p.Glu4302=)
13g.23330963C>ACA387506509SACSc.12913G>T (p.Glu4305Ter)
c.2186-1479G>T (p.=)
c.2432-1479G>T (p.=)
c.10663G>T (p.Glu3555Ter)
n.1058-1479G>T (p.=)
n.2130-1479G>T
c.12472G>T (p.Glu4158Ter)
c.12940G>T (p.Glu4314Ter)
c.12964G>T (p.Glu4322Ter)
c.12931G>T (p.Glu4311Ter)
c.12904G>T (p.Glu4302Ter)
ClinVar
13g.23330963C=CA2078628849SACSc.12913G= (p.Glu4305=)
c.2186-1479G= (p.=)
c.2432-1479G= (p.=)
c.10663G= (p.Glu3555=)
n.1058-1479G= (p.=)
n.2130-1479G=
c.12472G= (p.Glu4158=)
c.12940G= (p.Glu4314=)
c.12964G= (p.Glu4322=)
c.12931G= (p.Glu4311=)
c.12904G= (p.Glu4302=)
13g.23330963C>GCA387506511SACSc.12913G>C (p.Glu4305Gln)
c.2186-1479G>C (p.=)
c.2432-1479G>C (p.=)
c.10663G>C (p.Glu3555Gln)
n.1058-1479G>C (p.=)
n.2130-1479G>C
c.12472G>C (p.Glu4158Gln)
c.12940G>C (p.Glu4314Gln)
c.12964G>C (p.Glu4322Gln)
c.12931G>C (p.Glu4311Gln)
c.12904G>C (p.Glu4302Gln)
13g.23330963C>TCA6910052SACSc.12913G>A (p.Glu4305Lys)
c.2186-1479G>A (p.=)
c.2432-1479G>A (p.=)
c.10663G>A (p.Glu3555Lys)
n.1058-1479G>A (p.=)
n.2130-1479G>A
c.12472G>A (p.Glu4158Lys)
c.12940G>A (p.Glu4314Lys)
c.12964G>A (p.Glu4322Lys)
c.12931G>A (p.Glu4311Lys)
c.12904G>A (p.Glu4302Lys)
dbSNP ExAC gnomAD
13g.23330964T>ACA483157790SACSc.12912A>T (p.Pro4304=)
c.2186-1480A>T (p.=)
c.2432-1480A>T (p.=)
c.10662A>T (p.Pro3554=)
n.1058-1480A>T (p.=)
n.2130-1480A>T
c.12471A>T (p.Pro4157=)
c.12939A>T (p.Pro4313=)
c.12963A>T (p.Pro4321=)
c.12930A>T (p.Pro4310=)
c.12903A>T (p.Pro4301=)
13g.23330964T>CCA483157791SACSc.12912A>G (p.Pro4304=)
c.2186-1480A>G (p.=)
c.2432-1480A>G (p.=)
c.10662A>G (p.Pro3554=)
n.1058-1480A>G (p.=)
n.2130-1480A>G
c.12471A>G (p.Pro4157=)
c.12939A>G (p.Pro4313=)
c.12963A>G (p.Pro4321=)
c.12930A>G (p.Pro4310=)
c.12903A>G (p.Pro4301=)

Number of alleles fetched