Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.67490448A>CCA381551937AIPc.755A>C
c.589A>C (p.Lys197Gln)
n.1290A>C
c.469-549A>C (n.469-549A>C)
c.409A>C (p.Lys137Gln)
c.778A>C (p.Lys260Gln)
c.601A>C (p.Lys201Gln)
c.598A>C (p.Lys200Gln)
c.430A>C (p.Lys144Gln)
11g.67490448A>GCA381551938AIPc.755A>G
c.589A>G (p.Lys197Glu)
n.1290A>G
c.469-549A>G (n.469-549A>G)
c.409A>G (p.Lys137Glu)
c.778A>G (p.Lys260Glu)
c.601A>G (p.Lys201Glu)
c.598A>G (p.Lys200Glu)
c.430A>G (p.Lys144Glu)
11g.67490448A>TCA381551939AIPc.755A>T
c.589A>T (p.Lys197Ter)
n.1290A>T
c.469-549A>T (n.469-549A>T)
c.409A>T (p.Lys137Ter)
c.778A>T (p.Lys260Ter)
c.601A>T (p.Lys201Ter)
c.598A>T (p.Lys200Ter)
c.430A>T (p.Lys144Ter)
11g.67490449delCA2695214806AIPc.756del
c.590del (p.Lys197SerfsTer?)
n.1291del
c.469-548del (n.469-548del)
c.410del (p.Lys137SerfsTer?)
c.779del (p.Lys260SerfsTer?)
c.779del (p.Lys260AsnfsTer?)
c.602del (p.Lys201SerfsTer?)
c.599del (p.Lys200SerfsTer?)
c.431del (p.Lys144SerfsTer?)
11g.67490449A>CCA381551940AIPc.756A>C
c.590A>C (p.Lys197Thr)
n.1291A>C
c.469-548A>C (n.469-548A>C)
c.410A>C (p.Lys137Thr)
c.779A>C (p.Lys260Thr)
c.602A>C (p.Lys201Thr)
c.599A>C (p.Lys200Thr)
c.431A>C (p.Lys144Thr)
11g.67490449A>GCA381551941AIPc.756A>G
c.590A>G (p.Lys197Arg)
n.1291A>G
c.469-548A>G (n.469-548A>G)
c.410A>G (p.Lys137Arg)
c.779A>G (p.Lys260Arg)
c.602A>G (p.Lys201Arg)
c.599A>G (p.Lys200Arg)
c.431A>G (p.Lys144Arg)
11g.67490449A>TCA381551942AIPc.756A>T
c.590A>T (p.Lys197Met)
n.1291A>T
c.469-548A>T (n.469-548A>T)
c.410A>T (p.Lys137Met)
c.779A>T (p.Lys260Met)
c.779A>T (p.Lys260Ile)
c.602A>T (p.Lys201Met)
c.599A>T (p.Lys200Met)
c.431A>T (p.Lys144Met)
11g.67490450G>ACA475509320AIPc.757G>A
c.591G>A (p.Lys197=)
n.1292G>A
c.469-547G>A (n.469-547G>A)
c.411G>A (p.Lys137=)
c.780G>A (p.Lys260=)
c.779+1G>A (n.779+1G>A)
c.603G>A (p.Lys201=)
c.600G>A (p.Lys200=)
c.432G>A (p.Lys144=)
 ClinVar dbSNP gnomAD v4
11g.67490450G>CCA6140933AIPc.757G>C
c.591G>C (p.Lys197Asn)
n.1292G>C
c.469-547G>C (n.469-547G>C)
c.411G>C (p.Lys137Asn)
c.780G>C (p.Lys260Asn)
c.779+1G>C (n.779+1G>C)
c.603G>C (p.Lys201Asn)
c.600G>C (p.Lys200Asn)
c.432G>C (p.Lys144Asn)
 ClinVar dbSNP ExAC gnomAD v2
11g.67490450G=CA1980172469AIPc.757G=
c.591G= (p.Lys197=)
n.1292G=
c.469-547G= (n.469-547G=)
c.411G= (p.Lys137=)
c.780G= (p.Lys260=)
c.779+1G= (n.779+1G=)
c.603G= (p.Lys201=)
c.600G= (p.Lys200=)
c.432G= (p.Lys144=)
11g.67490450G>TCA381551943AIPc.757G>T
c.591G>T (p.Lys197Asn)
n.1292G>T
c.469-547G>T (n.469-547G>T)
c.411G>T (p.Lys137Asn)
c.780G>T (p.Lys260Asn)
c.779+1G>T (n.779+1G>T)
c.603G>T (p.Lys201Asn)
c.600G>T (p.Lys200Asn)
c.432G>T (p.Lys144Asn)
11g.67490451T>ACA381551944AIPc.758T>A
c.592T>A (p.Tyr198Asn)
n.1293T>A
c.469-546T>A (n.469-546T>A)
c.412T>A (p.Tyr138Asn)
c.781T>A (p.Tyr261Asn)
c.779+2T>A (n.779+2T>A)
c.604T>A (p.Tyr202Asn)
c.601T>A (p.Tyr201Asn)
c.433T>A (p.Tyr145Asn)
11g.67490451T>CCA381551945AIPc.758T>C
c.592T>C (p.Tyr198His)
n.1293T>C
c.469-546T>C (n.469-546T>C)
c.412T>C (p.Tyr138His)
c.781T>C (p.Tyr261His)
c.779+2T>C (n.779+2T>C)
c.604T>C (p.Tyr202His)
c.601T>C (p.Tyr201His)
c.433T>C (p.Tyr145His)
 gnomAD v4 COSMIC
11g.67490451T>GCA381551946AIPc.758T>G
c.592T>G (p.Tyr198Asp)
n.1293T>G
c.469-546T>G (n.469-546T>G)
c.412T>G (p.Tyr138Asp)
c.781T>G (p.Tyr261Asp)
c.779+2T>G (n.779+2T>G)
c.604T>G (p.Tyr202Asp)
c.601T>G (p.Tyr201Asp)
c.433T>G (p.Tyr145Asp)
11g.67490451_67490454delinsTACGCA1980172470AIPc.758_761delinsTACG
c.592_595delinsTACG (p.Tyr198=)
n.1293_1296delinsTACG
c.469-546_469-543delinsTACG (n.469-546_469-543delinsTACG)
c.412_415delinsTACG (p.Tyr138=)
c.781_784delinsTACG (p.Tyr261=)
c.779+2_779+5delinsTACG (n.779+2_779+5delinsTACG)
c.604_607delinsTACG (p.Tyr202=)
c.601_604delinsTACG (p.Tyr201=)
c.433_436delinsTACG (p.Tyr145=)
11g.67490452A=CA1980172471AIPc.759A=
c.593A= (p.Tyr198=)
n.1294A=
c.469-545A= (n.469-545A=)
c.413A= (p.Tyr138=)
c.782A= (p.Tyr261=)
c.779+3A= (n.779+3A=)
c.605A= (p.Tyr202=)
c.602A= (p.Tyr201=)
c.434A= (p.Tyr145=)
11g.67490452A>CCA381551948AIPc.759A>C
c.593A>C (p.Tyr198Ser)
n.1294A>C
c.469-545A>C (n.469-545A>C)
c.413A>C (p.Tyr138Ser)
c.782A>C (p.Tyr261Ser)
c.779+3A>C (n.779+3A>C)
c.605A>C (p.Tyr202Ser)
c.602A>C (p.Tyr201Ser)
c.434A>C (p.Tyr145Ser)
11g.67490452A>GCA224165453AIPc.759A>G
c.593A>G (p.Tyr198Cys)
n.1294A>G
c.469-545A>G (n.469-545A>G)
c.413A>G (p.Tyr138Cys)
c.782A>G (p.Tyr261Cys)
c.779+3A>G (n.779+3A>G)
c.605A>G (p.Tyr202Cys)
c.602A>G (p.Tyr201Cys)
c.434A>G (p.Tyr145Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67490452A>TCA381551947AIPc.759A>T
c.593A>T (p.Tyr198Phe)
n.1294A>T
c.469-545A>T (n.469-545A>T)
c.413A>T (p.Tyr138Phe)
c.782A>T (p.Tyr261Phe)
c.779+3A>T (n.779+3A>T)
c.605A>T (p.Tyr202Phe)
c.602A>T (p.Tyr201Phe)
c.434A>T (p.Tyr145Phe)
11g.67490452dupCA2614624261AIPc.759dup
c.593dup (p.Tyr198Ter)
n.1294dup
c.469-545dup (n.469-545dup)
c.413dup (p.Tyr138Ter)
c.782dup (p.Tyr261Ter)
c.779+3dup (n.779+3dup)
c.605dup (p.Tyr202Ter)
c.602dup (p.Tyr201Ter)
c.434dup (p.Tyr145Ter)
 gnomAD v4
11g.67490455_67490457delCA6140934AIPc.762_764del
c.596_598del (p.Asp200del)
n.1297_1299del
c.469-542_469-540del (n.469-542_469-540del)
c.416_418del (p.Asp140del)
c.785_787del (p.Asp263del)
c.779+6_779+8del (n.779+6_779+8del)
c.608_610del (p.Asp204del)
c.785_787del (p.Asp262del)
c.605_607del (p.Asp203del)
c.437_439del (p.Asp146del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.67490453C>ACA381551949AIPc.760C>A
c.594C>A (p.Tyr198Ter)
n.1295C>A
c.469-544C>A (n.469-544C>A)
c.414C>A (p.Tyr138Ter)
c.783C>A (p.Tyr261Ter)
c.779+4C>A (n.779+4C>A)
c.606C>A (p.Tyr202Ter)
c.603C>A (p.Tyr201Ter)
c.435C>A (p.Tyr145Ter)
11g.67490453C=CA1980172472AIPc.760C=
c.594C= (p.Tyr198=)
n.1295C=
c.469-544C= (n.469-544C=)
c.414C= (p.Tyr138=)
c.783C= (p.Tyr261=)
c.779+4C= (n.779+4C=)
c.606C= (p.Tyr202=)
c.603C= (p.Tyr201=)
c.435C= (p.Tyr145=)
11g.67490453C>GCA381551950AIPc.760C>G
c.594C>G (p.Tyr198Ter)
n.1295C>G
c.469-544C>G (n.469-544C>G)
c.414C>G (p.Tyr138Ter)
c.783C>G (p.Tyr261Ter)
c.779+4C>G (n.779+4C>G)
c.606C>G (p.Tyr202Ter)
c.603C>G (p.Tyr201Ter)
c.435C>G (p.Tyr145Ter)
 ClinVar COSMIC
11g.67490453C>TCA344183AIPc.760C>T
c.594C>T (p.Tyr198=)
n.1295C>T
c.469-544C>T (n.469-544C>T)
c.414C>T (p.Tyr138=)
c.783C>T (p.Tyr261=)
c.779+4C>T (n.779+4C>T)
c.606C>T (p.Tyr202=)
c.603C>T (p.Tyr201=)
c.435C>T (p.Tyr145=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67490454G>ACA6140935AIPc.761G>A
c.595G>A (p.Asp199Asn)
n.1296G>A
c.469-543G>A (n.469-543G>A)
c.415G>A (p.Asp139Asn)
c.784G>A (p.Asp262Asn)
c.779+5G>A (n.779+5G>A)
c.607G>A (p.Asp203Asn)
c.604G>A (p.Asp202Asn)
c.436G>A (p.Asp146Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.67490454G>CCA381551951AIPc.761G>C
c.595G>C (p.Asp199His)
n.1296G>C
c.469-543G>C (n.469-543G>C)
c.415G>C (p.Asp139His)
c.784G>C (p.Asp262His)
c.779+5G>C (n.779+5G>C)
c.607G>C (p.Asp203His)
c.604G>C (p.Asp202His)
c.436G>C (p.Asp146His)
11g.67490454G=CA1980172473AIPc.761G=
c.595G= (p.Asp199=)
n.1296G=
c.469-543G= (n.469-543G=)
c.415G= (p.Asp139=)
c.784G= (p.Asp262=)
c.779+5G= (n.779+5G=)
c.607G= (p.Asp203=)
c.604G= (p.Asp202=)
c.436G= (p.Asp146=)
11g.67490454G>TCA381551952AIPc.761G>T
c.595G>T (p.Asp199Tyr)
n.1296G>T
c.469-543G>T (n.469-543G>T)
c.415G>T (p.Asp139Tyr)
c.784G>T (p.Asp262Tyr)
c.779+5G>T (n.779+5G>T)
c.607G>T (p.Asp203Tyr)
c.604G>T (p.Asp202Tyr)
c.436G>T (p.Asp146Tyr)
 gnomAD v4
11g.67490455A>CCA381551953AIPc.762A>C
c.596A>C (p.Asp199Ala)
n.1297A>C
c.469-542A>C (n.469-542A>C)
c.416A>C (p.Asp139Ala)
c.785A>C (p.Asp262Ala)
c.779+6A>C (n.779+6A>C)
c.608A>C (p.Asp203Ala)
c.605A>C (p.Asp202Ala)
c.437A>C (p.Asp146Ala)
11g.67490455A>GCA381551954AIPc.762A>G
c.596A>G (p.Asp199Gly)
n.1297A>G
c.469-542A>G (n.469-542A>G)
c.416A>G (p.Asp139Gly)
c.785A>G (p.Asp262Gly)
c.779+6A>G (n.779+6A>G)
c.608A>G (p.Asp203Gly)
c.605A>G (p.Asp202Gly)
c.437A>G (p.Asp146Gly)
11g.67490455A>TCA381551955AIPc.762A>T
c.596A>T (p.Asp199Val)
n.1297A>T
c.469-542A>T (n.469-542A>T)
c.416A>T (p.Asp139Val)
c.785A>T (p.Asp262Val)
c.779+6A>T (n.779+6A>T)
c.608A>T (p.Asp203Val)
c.605A>T (p.Asp202Val)
c.437A>T (p.Asp146Val)
11g.67490456C>ACA6140937AIPc.763C>A
c.597C>A (p.Asp199Glu)
n.1298C>A
c.469-541C>A (n.469-541C>A)
c.417C>A (p.Asp139Glu)
c.786C>A (p.Asp262Glu)
c.779+7C>A (n.779+7C>A)
c.609C>A (p.Asp203Glu)
c.606C>A (p.Asp202Glu)
c.438C>A (p.Asp146Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490456C=CA1980172474AIPc.763C=
c.597C= (p.Asp199=)
n.1298C=
c.469-541C= (n.469-541C=)
c.417C= (p.Asp139=)
c.786C= (p.Asp262=)
c.779+7C= (n.779+7C=)
c.609C= (p.Asp203=)
c.606C= (p.Asp202=)
c.438C= (p.Asp146=)
11g.67490456C>GCA381551956AIPc.763C>G
c.597C>G (p.Asp199Glu)
n.1298C>G
c.469-541C>G (n.469-541C>G)
c.417C>G (p.Asp139Glu)
c.786C>G (p.Asp262Glu)
c.779+7C>G (n.779+7C>G)
c.609C>G (p.Asp203Glu)
c.606C>G (p.Asp202Glu)
c.438C>G (p.Asp146Glu)
11g.67490456C>TCA6140936AIPc.763C>T
c.597C>T (p.Asp199=)
n.1298C>T
c.469-541C>T (n.469-541C>T)
c.417C>T (p.Asp139=)
c.786C>T (p.Asp262=)
c.779+7C>T (n.779+7C>T)
c.609C>T (p.Asp203=)
c.606C>T (p.Asp202=)
c.438C>T (p.Asp146=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490457G>ACA381551957AIPc.764G>A
c.598G>A (p.Asp200Asn)
n.1299G>A
c.469-540G>A (n.469-540G>A)
c.418G>A (p.Asp140Asn)
c.787G>A (p.Asp263Asn)
c.779+8G>A (n.779+8G>A)
c.610G>A (p.Asp204Asn)
c.787G>A (p.Gly263Ser)
c.607G>A (p.Asp203Asn)
c.439G>A (p.Gly147Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67490457G>CCA381551959AIPc.764G>C
c.598G>C (p.Asp200His)
n.1299G>C
c.469-540G>C (n.469-540G>C)
c.418G>C (p.Asp140His)
c.787G>C (p.Asp263His)
c.779+8G>C (n.779+8G>C)
c.610G>C (p.Asp204His)
c.787G>C (p.Gly263Arg)
c.607G>C (p.Asp203His)
c.439G>C (p.Gly147Arg)
11g.67490457G=CA1980172475AIPc.764G=
c.598G= (p.Asp200=)
n.1299G=
c.469-540G= (n.469-540G=)
c.418G= (p.Asp140=)
c.787G= (p.Asp263=)
c.779+8G= (n.779+8G=)
c.610G= (p.Asp204=)
c.787G= (p.Gly263=)
c.607G= (p.Asp203=)
c.439G= (p.Gly147=)
11g.67490457G>TCA381551958AIPc.764G>T
c.598G>T (p.Asp200Tyr)
n.1299G>T
c.469-540G>T (n.469-540G>T)
c.418G>T (p.Asp140Tyr)
c.787G>T (p.Asp263Tyr)
c.779+8G>T (n.779+8G>T)
c.610G>T (p.Asp204Tyr)
c.787G>T (p.Gly263Cys)
c.607G>T (p.Asp203Tyr)
c.439G>T (p.Gly147Cys)
 gnomAD v4
11g.67490457_67490458insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCACCA2724392472AIPc.764_765insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC
c.598_598+1insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC (n.598_598+1insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC)
n.1299_1300insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC
c.469-540_469-539insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC (n.469-540_469-539insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC)
c.418_418+1insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC (n.418_418+1insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC)
c.787_787+1insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC (n.787_787+1insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC)
c.779+8_779+9insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC (n.779+8_779+9insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC)
c.610_610+1insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC (n.610_610+1insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC)
c.607_607+1insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC (n.607_607+1insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC)
c.439_440insACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCAC (p.Gly147AspfsTer41)
 dbSNP
11g.67490458G>ACA381551960AIPc.765G>A
c.598+1G>A (n.598+1G>A)
n.1300G>A
c.469-539G>A (n.469-539G>A)
c.418+1G>A (n.418+1G>A)
c.787+1G>A (n.787+1G>A)
c.779+9G>A (n.779+9G>A)
c.610+1G>A (n.610+1G>A)
c.607+1G>A (n.607+1G>A)
c.440G>A (p.Gly147Asp)
11g.67490458G>CCA381551962AIPc.765G>C
c.598+1G>C (n.598+1G>C)
n.1300G>C
c.469-539G>C (n.469-539G>C)
c.418+1G>C (n.418+1G>C)
c.787+1G>C (n.787+1G>C)
c.779+9G>C (n.779+9G>C)
c.610+1G>C (n.610+1G>C)
c.607+1G>C (n.607+1G>C)
c.440G>C (p.Gly147Ala)
11g.67490458G>TCA381551961AIPc.765G>T
c.598+1G>T (n.598+1G>T)
n.1300G>T
c.469-539G>T (n.469-539G>T)
c.418+1G>T (n.418+1G>T)
c.787+1G>T (n.787+1G>T)
c.779+9G>T (n.779+9G>T)
c.610+1G>T (n.610+1G>T)
c.607+1G>T (n.607+1G>T)
c.440G>T (p.Gly147Val)
11g.67490459T>ACA381551963AIPc.766T>A
c.598+2T>A (n.598+2T>A)
n.1301T>A
c.469-538T>A (n.469-538T>A)
c.418+2T>A (n.418+2T>A)
c.787+2T>A (n.787+2T>A)
c.779+10T>A (n.779+10T>A)
c.610+2T>A (n.610+2T>A)
c.607+2T>A (n.607+2T>A)
c.441T>A (p.Gly147=)
11g.67490459T>CCA381551965AIPc.766T>C
c.598+2T>C (n.598+2T>C)
n.1301T>C
c.469-538T>C (n.469-538T>C)
c.418+2T>C (n.418+2T>C)
c.787+2T>C (n.787+2T>C)
c.779+10T>C (n.779+10T>C)
c.610+2T>C (n.610+2T>C)
c.607+2T>C (n.607+2T>C)
c.441T>C (p.Gly147=)
11g.67490459T>GCA381551964AIPc.766T>G
c.598+2T>G (n.598+2T>G)
n.1301T>G
c.469-538T>G (n.469-538T>G)
c.418+2T>G (n.418+2T>G)
c.787+2T>G (n.787+2T>G)
c.779+10T>G (n.779+10T>G)
c.610+2T>G (n.610+2T>G)
c.607+2T>G (n.607+2T>G)
c.441T>G (p.Gly147=)
11g.67490460G>ACA381551966AIPc.767G>A
c.598+3G>A (n.598+3G>A)
n.1302G>A
c.469-537G>A (n.469-537G>A)
c.418+3G>A (n.418+3G>A)
c.787+3G>A (n.787+3G>A)
c.779+11G>A (n.779+11G>A)
c.610+3G>A (n.610+3G>A)
c.607+3G>A (n.607+3G>A)
c.442G>A (p.Glu148Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67490460G>CCA381551967AIPc.767G>C
c.598+3G>C (n.598+3G>C)
n.1302G>C
c.469-537G>C (n.469-537G>C)
c.418+3G>C (n.418+3G>C)
c.787+3G>C (n.787+3G>C)
c.779+11G>C (n.779+11G>C)
c.610+3G>C (n.610+3G>C)
c.607+3G>C (n.607+3G>C)
c.442G>C (p.Glu148Gln)
11g.67490460G=CA1980172476AIPc.767G=
c.598+3G= (n.598+3G=)
n.1302G=
c.469-537G= (n.469-537G=)
c.418+3G= (n.418+3G=)
c.787+3G= (n.787+3G=)
c.779+11G= (n.779+11G=)
c.610+3G= (n.610+3G=)
c.607+3G= (n.607+3G=)
c.442G= (p.Glu148=)

Number of alleles fetched