Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.67940041G>ACA496092618LCATc.1186C>T (p.Leu396=)
c.189C>T
c.924C>T (n.924C>T)
gnomAD v4
16g.67940041G>CCA396375512LCATc.1186C>G (p.Leu396Val)
c.189C>G
c.924C>G (n.924C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67940041G=CA2229563177LCATc.1186C= (p.Leu396=)
c.189C=
c.924C= (n.924C=)
16g.67940041G>TCA396375513LCATc.1186C>A (p.Leu396Met)
c.189C>A
c.924C>A (n.924C>A)
dbSNP
16g.67940042G>ACA8120871LCATc.1185C>T (p.Pro395=)
c.188C>T
c.923C>T (n.923C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940042G>CCA496092624LCATc.1185C>G (p.Pro395=)
c.188C>G
c.923C>G (n.923C>G)
16g.67940042G=CA2229563178LCATc.1185C= (p.Pro395=)
c.188C=
c.923C= (n.923C=)
16g.67940042G>TCA496092625LCATc.1185C>A (p.Pro395=)
c.188C>A
c.923C>A (n.923C>A)
dbSNP gnomAD v2
16g.67940043G>ACA396375515LCATc.1184C>T (p.Pro395Leu)
c.187C>T
c.922C>T (n.922C>T)
gnomAD v4
16g.67940043G>CCA396375514LCATc.1184C>G (p.Pro395Arg)
c.187C>G
c.922C>G (n.922C>G)
16g.67940043G>TCA396375516LCATc.1184C>A (p.Pro395His)
c.187C>A
c.922C>A (n.922C>A)
16g.67940044G>ACA396375517LCATc.1183C>T (p.Pro395Ser)
c.186C>T
c.921C>T (n.921C>T)
16g.67940044G>CCA396375519LCATc.1183C>G (p.Pro395Ala)
c.186C>G
c.921C>G (n.921C>G)
gnomAD v4
16g.67940044G>TCA396375518LCATc.1183C>A (p.Pro395Thr)
c.186C>A
c.921C>A (n.921C>A)
16g.67940045C>ACA283160399LCATc.1182G>T (p.Leu394=)
c.185G>T
c.920G>T (n.920G>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.67940045C=CA2229563179LCATc.1182G= (p.Leu394=)
c.185G=
c.920G= (n.920G=)
16g.67940045C>GCA496092633LCATc.1182G>C (p.Leu394=)
c.185G>C
c.920G>C (n.920G>C)
16g.67940045C>TCA496092635LCATc.1182G>A (p.Leu394=)
c.185G>A
c.920G>A (n.920G>A)
16g.67940046A>CCA396375520LCATc.1181T>G (p.Leu394Arg)
c.184T>G
c.919T>G (n.919T>G)
16g.67940046A>GCA396375522LCATc.1181T>C (p.Leu394Pro)
c.184T>C
c.919T>C (n.919T>C)
16g.67940046A>TCA396375521LCATc.1181T>A (p.Leu394Gln)
c.184T>A
c.919T>A (n.919T>A)
16g.67940047G>ACA496092640LCATc.1180C>T (p.Leu394=)
c.183C>T
c.918C>T (n.918C>T)
gnomAD v4
16g.67940047G>CCA396375523LCATc.1180C>G (p.Leu394Val)
c.183C>G
c.918C>G (n.918C>G)
16g.67940047G>TCA396375524LCATc.1180C>A (p.Leu394Met)
c.183C>A
c.918C>A (n.918C>A)
16g.67940048C>ACA496092644LCATc.1179G>T (p.Leu393=)
c.182G>T
c.917G>T (n.917G>T)
16g.67940048C>GCA496092645LCATc.1179G>C (p.Leu393=)
c.182G>C
c.917G>C (n.917G>C)
16g.67940048C>TCA496092648LCATc.1179G>A (p.Leu393=)
c.182G>A
c.917G>A (n.917G>A)
16g.67940049A>CCA396375525LCATc.1178T>G (p.Leu393Arg)
c.181T>G
c.916T>G (n.916T>G)
16g.67940049A>GCA396375526LCATc.1178T>C (p.Leu393Pro)
c.181T>C
c.916T>C (n.916T>C)
16g.67940049A>TCA396375527LCATc.1178T>A (p.Leu393Gln)
c.181T>A
c.916T>A (n.916T>A)
16g.67940050G>ACA8120872LCATc.1177C>T (p.Leu393=)
c.180C>T
c.915C>T (n.915C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940050G>CCA396375528LCATc.1177C>G (p.Leu393Val)
c.180C>G
c.915C>G (n.915C>G)
16g.67940050G=CA2229563180LCATc.1177C= (p.Leu393=)
c.180C=
c.915C= (n.915C=)
16g.67940050G>TCA396375529LCATc.1177C>A (p.Leu393Met)
c.180C>A
c.915C>A (n.915C>A)
16g.67940051G>ACA496092659LCATc.1176C>T (p.His392=)
c.179C>T
c.914C>T (n.914C>T)
dbSNP
16g.67940051G>CCA396375530LCATc.1176C>G (p.His392Gln)
c.179C>G
c.914C>G (n.914C>G)
16g.67940051G=CA2229563181LCATc.1176C= (p.His392=)
c.179C=
c.914C= (n.914C=)
16g.67940051G>TCA396375531LCATc.1176C>A (p.His392Gln)
c.179C>A
c.914C>A (n.914C>A)
16g.67940052T>ACA396375534LCATc.1175A>T (p.His392Leu)
c.178A>T
c.913A>T (n.913A>T)
16g.67940052T>CCA396375532LCATc.1175A>G (p.His392Arg)
c.178A>G
c.913A>G (n.913A>G)
dbSNP gnomAD v2 gnomAD v4
16g.67940052T>GCA396375533LCATc.1175A>C (p.His392Pro)
c.178A>C
c.913A>C (n.913A>C)
16g.67940052T=CA2229563182LCATc.1175A= (p.His392=)
c.178A=
c.913A= (n.913A=)
16g.67940053G>ACA396375535LCATc.1174C>T (p.His392Tyr)
c.177C>T
c.912C>T (n.912C>T)
dbSNP gnomAD v2 gnomAD v4
16g.67940053G>CCA396375536LCATc.1174C>G (p.His392Asp)
c.177C>G
c.912C>G (n.912C>G)
16g.67940053G=CA2229563183LCATc.1174C= (p.His392=)
c.177C=
c.912C= (n.912C=)
16g.67940053G>TCA396375537LCATc.1174C>A (p.His392Asn)
c.177C>A
c.912C>A (n.912C>A)
16g.67940054C>ACA496092682LCATc.1173G>T (p.Val391=)
c.176G>T
c.911G>T (n.911G>T)
16g.67940054C=CA2229563184LCATc.1173G= (p.Val391=)
c.176G=
c.911G= (n.911G=)
16g.67940054C>GCA496092680LCATc.1173G>C (p.Val391=)
c.176G>C
c.911G>C (n.911G>C)
16g.67940054C>TCA8120873LCATc.1173G>A (p.Val391=)
c.176G>A
c.911G>A (n.911G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940055A=CA2229563185LCATc.1172T= (p.Val391=)
c.175T=
c.910T= (n.910T=)
16g.67940055A>CCA396375538LCATc.1172T>G (p.Val391Gly)
c.175T>G
c.910T>G (n.910T>G)
dbSNP gnomAD v2 gnomAD v4
16g.67940055A>GCA8120874LCATc.1172T>C (p.Val391Ala)
c.175T>C
c.910T>C (n.910T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940055A>TCA396375539LCATc.1172T>A (p.Val391Glu)
c.175T>A
c.910T>A (n.910T>A)
16g.67940056C>ACA396375540LCATc.1171G>T (p.Val391Leu)
c.174G>T
c.909G>T (n.909G>T)
16g.67940056C>GCA396375541LCATc.1171G>C (p.Val391Leu)
c.174G>C
c.909G>C (n.909G>C)
16g.67940056C>TCA396375542LCATc.1171G>A (p.Val391Met)
c.174G>A
c.909G>A (n.909G>A)
16g.67940057A=CA2229563186LCATc.1170T= (p.Pro390=)
c.173T=
c.908T= (n.908T=)
16g.67940057A>CCA496092693LCATc.1170T>G (p.Pro390=)
c.173T>G
c.908T>G (n.908T>G)
16g.67940057A>GCA496092696LCATc.1170T>C (p.Pro390=)
c.173T>C
c.908T>C (n.908T>C)
dbSNP gnomAD v4
16g.67940057A>TCA496092697LCATc.1170T>A (p.Pro390=)
c.173T>A
c.908T>A (n.908T>A)
16g.67940058G>ACA396375544LCATc.1169C>T (p.Pro390Leu)
c.172C>T
c.907C>T (n.907C>T)
16g.67940058G>CCA396375545LCATc.1169C>G (p.Pro390Arg)
c.172C>G
c.907C>G (n.907C>G)
16g.67940058G>TCA396375543LCATc.1169C>A (p.Pro390His)
c.172C>A
c.907C>A (n.907C>A)
16g.67940059G>ACA8120875LCATc.1168C>T (p.Pro390Ser)
c.171C>T
c.906C>T (n.906C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940059G>CCA396375546LCATc.1168C>G (p.Pro390Ala)
c.171C>G
c.906C>G (n.906C>G)
16g.67940059G=CA2229563187LCATc.1168C= (p.Pro390=)
c.171C=
c.906C= (n.906C=)
16g.67940059G>TCA396375547LCATc.1168C>A (p.Pro390Thr)
c.171C>A
c.906C>A (n.906C>A)
16g.67940060C>ACA396375548LCATc.1167G>T (p.Gln389His)
c.170G>T
c.905G>T (n.905G>T)
16g.67940060C=CA2229563188LCATc.1167G= (p.Gln389=)
c.170G=
c.905G= (n.905G=)
16g.67940060C>GCA8120876LCATc.1167G>C (p.Gln389His)
c.170G>C
c.905G>C (n.905G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940060C>TCA496092709LCATc.1167G>A (p.Gln389=)
c.170G>A
c.905G>A (n.905G>A)
gnomAD v4
16g.67940061T>ACA396375551LCATc.1166A>T (p.Gln389Leu)
c.169A>T
c.904A>T (n.904A>T)
16g.67940061T>CCA396375549LCATc.1166A>G (p.Gln389Arg)
c.169A>G
c.904A>G (n.904A>G)
16g.67940061T>GCA396375550LCATc.1166A>C (p.Gln389Pro)
c.169A>C
c.904A>C (n.904A>C)
16g.67940062G>ACA396375552LCATc.1165C>T (p.Gln389Ter)
c.168C>T
c.903C>T (n.903C>T)
16g.67940062G>CCA396375553LCATc.1165C>G (p.Gln389Glu)
c.168C>G
c.903C>G (n.903C>G)
16g.67940062G>TCA396375554LCATc.1165C>A (p.Gln389Lys)
c.168C>A
c.903C>A (n.903C>A)
16g.67940063T>ACA496092734LCATc.1164A>T (p.Pro388=)
c.167A>T
c.902A>T (n.902A>T)
16g.67940063T>CCA8120878LCATc.1164A>G (p.Pro388=)
c.167A>G
c.902A>G (n.902A>G)
dbSNP ExAC gnomAD v4
16g.67940063T>GCA8120877LCATc.1164A>C (p.Pro388=)
c.167A>C
c.902A>C (n.902A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940063T=CA2229563189LCATc.1164A= (p.Pro388=)
c.167A=
c.902A= (n.902A=)
16g.67940064G>ACA396375555LCATc.1163C>T (p.Pro388Leu)
c.166C>T
c.901C>T (n.901C>T)
ClinVar dbSNP gnomAD v4
16g.67940064G>CCA396375557LCATc.1163C>G (p.Pro388Arg)
c.166C>G
c.901C>G (n.901C>G)
16g.67940064G=CA2229563190LCATc.1163C= (p.Pro388=)
c.166C=
c.901C= (n.901C=)
16g.67940064G>TCA396375556LCATc.1163C>A (p.Pro388Gln)
c.166C>A
c.901C>A (n.901C>A)
16g.67940065G>ACA396375558LCATc.1162C>T (p.Pro388Ser)
c.165C>T
c.900C>T (n.900C>T)
gnomAD v4
16g.67940065G>CCA396375559LCATc.1162C>G (p.Pro388Ala)
c.165C>G
c.900C>G (n.900C>G)
16g.67940065G>TCA396375560LCATc.1162C>A (p.Pro388Thr)
c.165C>A
c.900C>A (n.900C>A)
16g.67940066C>ACA396375561LCATc.1161G>T (p.Gln387His)
c.164G>T
c.899G>T (n.899G>T)
gnomAD v4
16g.67940066C>GCA396375562LCATc.1161G>C (p.Gln387His)
c.164G>C
c.899G>C (n.899G>C)
16g.67940066C>TCA496092757LCATc.1161G>A (p.Gln387=)
c.164G>A
c.899G>A (n.899G>A)
COSMIC
16g.67940067T>ACA396375563LCATc.1160A>T (p.Gln387Leu)
c.163A>T
c.898A>T (n.898A>T)
16g.67940067T>CCA396375564LCATc.1160A>G (p.Gln387Arg)
c.163A>G
c.898A>G (n.898A>G)
16g.67940067T>GCA396375565LCATc.1160A>C (p.Gln387Pro)
c.163A>C
c.898A>C (n.898A>C)
16g.67940067T=CA2229563191LCATc.1160A= (p.Gln387=)
c.163A=
c.898A= (n.898A=)
16g.67940068G>ACA396375566LCATc.1159C>T (p.Gln387Ter)
c.162C>T
c.897C>T (n.897C>T)
16g.67940068G>CCA396375567LCATc.1159C>G (p.Gln387Glu)
c.162C>G
c.897C>G (n.897C>G)
16g.67940068G>TCA396375568LCATc.1159C>A (p.Gln387Lys)
c.162C>A
c.897C>A (n.897C>A)
16g.67940069dupCA623122722LCATc.1159dup (p.Gln387ProfsTer?)
c.162dup
c.897dup (n.897dup)
dbSNP gnomAD v2
16g.67940069G>ACA496092782LCATc.1158C>T (p.Arg386=)
c.161C>T
c.896C>T (n.896C>T)
16g.67940069G>CCA496092784LCATc.1158C>G (p.Arg386=)
c.161C>G
c.896C>G (n.896C>G)
16g.67940069G>TCA496092786LCATc.1158C>A (p.Arg386=)
c.161C>A
c.896C>A (n.896C>A)
16g.67940070C>ACA396375570LCATc.1157G>T (p.Arg386Leu)
c.160G>T
c.895G>T (n.895G>T)
16g.67940070C=CA2229563192LCATc.1157G= (p.Arg386=)
c.160G=
c.895G= (n.895G=)
16g.67940070C>GCA8120879LCATc.1157G>C (p.Arg386Pro)
c.160G>C
c.895G>C (n.895G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940070C>TCA396375569LCATc.1157G>A (p.Arg386His)
c.160G>A
c.895G>A (n.895G>A)
dbSNP gnomAD v2 gnomAD v4
16g.67940071G>ACA396375573LCATc.1156C>T (p.Arg386Cys)
c.159C>T
c.894C>T (n.894C>T)
gnomAD v4
16g.67940071G>CCA396375571LCATc.1156C>G (p.Arg386Gly)
c.159C>G
c.894C>G (n.894C>G)
16g.67940071G>TCA396375572LCATc.1156C>A (p.Arg386Ser)
c.159C>A
c.894C>A (n.894C>A)
16g.67940072G>ACA496092804LCATc.1155C>T (p.Gly385=)
c.158C>T
c.893C>T (n.893C>T)
16g.67940072G>CCA8120880LCATc.1155C>G (p.Gly385=)
c.158C>G
c.893C>G (n.893C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940072G=CA2229563193LCATc.1155C= (p.Gly385=)
c.158C=
c.893C= (n.893C=)
16g.67940072G>TCA496092810LCATc.1155C>A (p.Gly385=)
c.158C>A
c.893C>A (n.893C>A)
16g.67940072_67940082delinsGCCCTGCCACACA2229563194LCATc.1145_1155delinsTGTGGCAGGGC (p.Leu382=)
c.156-8_158delinsTGTGGCAGGGC
c.883_893delinsTGTGGCAGGGC (n.883_893delinsTGTGGCAGGGC)
16g.67940073C>ACA396375574LCATc.1154G>T (p.Gly385Val)
c.157G>T
c.892G>T (n.892G>T)
gnomAD v4
16g.67940073C=CA2229563195LCATc.1154G= (p.Gly385=)
c.157G=
c.892G= (n.892G=)
16g.67940073C>GCA8120881LCATc.1154G>C (p.Gly385Ala)
c.157G>C
c.892G>C (n.892G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940073C>TCA396375575LCATc.1154G>A (p.Gly385Asp)
c.157G>A
c.892G>A (n.892G>A)
gnomAD v4
16g.67940073_67940082delCA919730844LCATc.1145_1154del (p.Leu382ProfsTer25)
c.156-8_157del
c.883_892del (n.883_892del)
dbSNP
16g.67940074C>ACA396375577LCATc.1153G>T (p.Gly385Cys)
c.156G>T
c.891G>T (n.891G>T)
16g.67940074C=CA2229563196LCATc.1153G= (p.Gly385=)
c.156G=
c.891G= (n.891G=)
16g.67940074C>GCA396375576LCATc.1153G>C (p.Gly385Arg)
c.156G>C
c.891G>C (n.891G>C)
dbSNP gnomAD v2
16g.67940074C>TCA283160483LCATc.1153G>A (p.Gly385Ser)
c.156G>A
c.891G>A (n.891G>A)
dbSNP
16g.67940075C>ACA396375578LCATc.1152G>T (p.Gln384His)
c.156-1G>T
c.890G>T (n.890G>T)
16g.67940075C>GCA396375579LCATc.1152G>C (p.Gln384His)
c.156-1G>C
c.890G>C (n.890G>C)
16g.67940075C>TCA496092828LCATc.1152G>A (p.Gln384=)
c.156-1G>A
c.890G>A (n.890G>A)
16g.67940076T>ACA396375580LCATc.1151A>T (p.Gln384Leu)
c.156-2A>T
c.889A>T (n.889A>T)
16g.67940076T>CCA8120882LCATc.1151A>G (p.Gln384Arg)
c.156-2A>G
c.889A>G (n.889A>G)
dbSNP ExAC gnomAD v4
16g.67940076T>GCA396375581LCATc.1151A>C (p.Gln384Pro)
c.156-2A>C
c.889A>C (n.889A>C)
16g.67940076T=CA2229563197LCATc.1151A= (p.Gln384=)
c.156-2A=
c.889A= (n.889A=)
16g.67940077G>ACA396375582LCATc.1150C>T (p.Gln384Ter)
c.156-3C>T
c.888C>T (n.888C>T)
16g.67940077G>CCA8120883LCATc.1150C>G (p.Gln384Glu)
c.156-3C>G
c.888C>G (n.888C>G)
dbSNP ExAC
16g.67940077G=CA2229563198LCATc.1150C= (p.Gln384=)
c.156-3C=
c.888C= (n.888C=)
16g.67940077G>TCA396375583LCATc.1150C>A (p.Gln384Lys)
c.156-3C>A
c.888C>A (n.888C>A)
16g.67940078C>ACA396375584LCATc.1149G>T (p.Trp383Cys)
c.156-4G>T
c.887G>T (n.887G>T)
16g.67940078C=CA2229563199LCATc.1149G= (p.Trp383=)
c.156-4G=
c.887G= (n.887G=)
16g.67940078C>GCA283160485LCATc.1149G>C (p.Trp383Cys)
c.156-4G>C
c.887G>C (n.887G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67940078C>TCA396375585LCATc.1149G>A (p.Trp383Ter)
c.156-4G>A
c.887G>A (n.887G>A)
16g.67940079C>ACA396375586LCATc.1148G>T (p.Trp383Leu)
c.156-5G>T
c.886G>T (n.886G>T)
16g.67940079C>GCA396375587LCATc.1148G>C (p.Trp383Ser)
c.156-5G>C
c.886G>C (n.886G>C)
16g.67940079C>TCA396375588LCATc.1148G>A (p.Trp383Ter)
c.156-5G>A
c.886G>A (n.886G>A)
16g.67940080A>CCA396375589LCATc.1147T>G (p.Trp383Gly)
c.156-6T>G
c.885T>G (n.885T>G)
16g.67940080A>GCA396375590LCATc.1147T>C (p.Trp383Arg)
c.156-6T>C
c.885T>C (n.885T>C)
16g.67940080A>TCA396375591LCATc.1147T>A (p.Trp383Arg)
c.156-6T>A
c.885T>A (n.885T>A)
16g.67940081C>ACA496092854LCATc.1146G>T (p.Leu382=)
c.156-7G>T
c.884G>T (n.884G>T)
16g.67940081C>GCA496092855LCATc.1146G>C (p.Leu382=)
c.156-7G>C
c.884G>C (n.884G>C)
16g.67940081C>TCA496092853LCATc.1146G>A (p.Leu382=)
c.156-7G>A
c.884G>A (n.884G>A)
gnomAD v4
16g.67940082A>CCA396375592LCATc.1145T>G (p.Leu382Arg)
c.156-8T>G
c.883T>G (n.883T>G)
gnomAD v4
16g.67940082A>GCA396375593LCATc.1145T>C (p.Leu382Pro)
c.156-8T>C
c.883T>C (n.883T>C)
16g.67940082A>TCA396375594LCATc.1145T>A (p.Leu382Gln)
c.156-8T>A
c.883T>A (n.883T>A)
16g.67940083G>ACA496092860LCATc.1144C>T (p.Leu382=)
c.156-9C>T
c.882C>T (n.882C>T)
16g.67940083G>CCA396375595LCATc.1144C>G (p.Leu382Val)
c.156-9C>G
c.882C>G (n.882C>G)
16g.67940083G>TCA396375596LCATc.1144C>A (p.Leu382Met)
c.156-9C>A
c.882C>A (n.882C>A)
16g.67940084G>ACA496092866LCATc.1143C>T (p.Gly381=)
c.156-10C>T
c.881C>T (n.881C>T)
dbSNP
16g.67940084G>CCA496092865LCATc.1143C>G (p.Gly381=)
c.156-10C>G
c.881C>G (n.881C>G)
16g.67940084G>TCA496092863LCATc.1143C>A (p.Gly381=)
c.156-10C>A
c.881C>A (n.881C>A)
16g.67940085C>ACA396375597LCATc.1142G>T (p.Gly381Val)
c.156-11G>T
c.880G>T (n.880G>T)
16g.67940085C>GCA396375598LCATc.1142G>C (p.Gly381Ala)
c.156-11G>C
c.880G>C (n.880G>C)
16g.67940085C>TCA396375599LCATc.1142G>A (p.Gly381Asp)
c.156-11G>A
c.880G>A (n.880G>A)
gnomAD v4
16g.67940086C>ACA396375600LCATc.1141G>T (p.Gly381Cys)
c.156-12G>T
c.879G>T (n.879G>T)
16g.67940086C>GCA396375601LCATc.1141G>C (p.Gly381Arg)
c.156-12G>C
c.879G>C (n.879G>C)
16g.67940086C>TCA396375602LCATc.1141G>A (p.Gly381Ser)
c.156-12G>A
c.879G>A (n.879G>A)
16g.67940087A>CCA396375604LCATc.1140T>G (p.Cys380Trp)
c.156-13T>G
c.878T>G (n.878T>G)
16g.67940087A>GCA496092874LCATc.1140T>C (p.Cys380=)
c.156-13T>C
c.878T>C (n.878T>C)
16g.67940087A>TCA396375603LCATc.1140T>A (p.Cys380Ter)
c.156-13T>A
c.878T>A (n.878T>A)
16g.67940088C>ACA396375605LCATc.1139G>T (p.Cys380Phe)
c.156-14G>T
c.877G>T (n.877G>T)
16g.67940088C=CA2229563200LCATc.1139G= (p.Cys380=)
c.156-14G=
c.877G= (n.877G=)
16g.67940088C>GCA396375606LCATc.1139G>C (p.Cys380Ser)
c.156-14G>C
c.877G>C (n.877G>C)
16g.67940088C>TCA396375607LCATc.1139G>A (p.Cys380Tyr)
c.156-14G>A
c.877G>A (n.877G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67940089A=CA2229563201LCATc.1138T= (p.Cys380=)
c.156-15T=
c.876T= (n.876T=)
16g.67940089A>CCA396375608LCATc.1138T>G (p.Cys380Gly)
c.156-15T>G
c.876T>G (n.876T>G)
16g.67940089A>GCA8120884LCATc.1138T>C (p.Cys380Arg)
c.156-15T>C
c.876T>C (n.876T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940089A>TCA396375609LCATc.1138T>A (p.Cys380Ser)
c.156-15T>A
c.876T>A (n.876T>A)
16g.67940090G>ACA283160487LCATc.1137C>T (p.Leu379=)
c.156-16C>T
c.875C>T (n.875C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67940090G>CCA496092882LCATc.1137C>G (p.Leu379=)
c.156-16C>G
c.875C>G (n.875C>G)
16g.67940090G=CA2229563202LCATc.1137C= (p.Leu379=)
c.156-16C=
c.875C= (n.875C=)
16g.67940090G>TCA496092883LCATc.1137C>A (p.Leu379=)
c.156-16C>A
c.875C>A (n.875C>A)
16g.67940091A>CCA396375610LCATc.1136T>G (p.Leu379Arg)
c.156-17T>G
c.874T>G (n.874T>G)
16g.67940091A>GCA396375612LCATc.1136T>C (p.Leu379Pro)
c.156-17T>C
c.874T>C (n.874T>C)
16g.67940091A>TCA396375611LCATc.1136T>A (p.Leu379His)
c.156-17T>A
c.874T>A (n.874T>A)
16g.67940092G>ACA396375613LCATc.1135C>T (p.Leu379Phe)
c.156-18C>T
c.873C>T (n.873C>T)
dbSNP gnomAD v2
16g.67940092G>CCA396375614LCATc.1135C>G (p.Leu379Val)
c.156-18C>G
c.873C>G (n.873C>G)
16g.67940092G=CA2229563203LCATc.1135C= (p.Leu379=)
c.156-18C=
c.873C= (n.873C=)
16g.67940092G>TCA396375615LCATc.1135C>A (p.Leu379Ile)
c.156-18C>A
c.873C>A (n.873C>A)
16g.67940093C>ACA396375616LCATc.1134G>T (p.Glu378Asp)
c.156-19G>T
c.872G>T (n.872G>T)
dbSNP gnomAD v2 gnomAD v4
16g.67940093C=CA2229563204LCATc.1134G= (p.Glu378=)
c.156-19G=
c.872G= (n.872G=)
16g.67940093C>GCA396375617LCATc.1134G>C (p.Glu378Asp)
c.156-19G>C
c.872G>C (n.872G>C)
16g.67940093C>TCA496383843LCATc.1134G>A (p.Glu378=)
c.156-19G>A
c.872G>A (n.872G>A)
16g.67940094T>ACA396375618LCATc.1133A>T (p.Glu378Val)
c.156-20A>T
c.871A>T (n.871A>T)
16g.67940094T>CCA396375619LCATc.1133A>G (p.Glu378Gly)
c.156-20A>G
c.871A>G (n.871A>G)
16g.67940094T>GCA396375620LCATc.1133A>C (p.Glu378Ala)
c.156-20A>C
c.871A>C (n.871A>C)
16g.67940095C>ACA396375621LCATc.1132G>T (p.Glu378Ter)
c.156-21G>T
c.870G>T (n.870G>T)
16g.67940095C=CA2229563205LCATc.1132G= (p.Glu378=)
c.156-21G=
c.870G= (n.870G=)
16g.67940095C>GCA396375622LCATc.1132G>C (p.Glu378Gln)
c.156-21G>C
c.870G>C (n.870G>C)
16g.67940095C>TCA8120885LCATc.1132G>A (p.Glu378Lys)
c.156-21G>A
c.870G>A (n.870G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940096G>ACA8120886LCATc.1131C>T (p.Thr377=)
c.156-22C>T
c.869C>T (n.869C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940096G>CCA496383847LCATc.1131C>G (p.Thr377=)
c.156-22C>G
c.869C>G (n.869C>G)
gnomAD v4
16g.67940096G=CA2229563206LCATc.1131C= (p.Thr377=)
c.156-22C=
c.869C= (n.869C=)
16g.67940096G>TCA496383848LCATc.1131C>A (p.Thr377=)
c.156-22C>A
c.869C>A (n.869C>A)
16g.67940097G>ACA396375624LCATc.1130C>T (p.Thr377Ile)
c.156-23C>T
c.868C>T (n.868C>T)
16g.67940097G>CCA396375625LCATc.1130C>G (p.Thr377Ser)
c.156-23C>G
c.868C>G (n.868C>G)
16g.67940097G>TCA396375623LCATc.1130C>A (p.Thr377Asn)
c.156-23C>A
c.868C>A (n.868C>A)
16g.67940098T>ACA396375626LCATc.1129A>T (p.Thr377Ser)
c.156-24A>T
c.867A>T (n.867A>T)
16g.67940098T>CCA396375627LCATc.1129A>G (p.Thr377Ala)
c.156-24A>G
c.867A>G (n.867A>G)
16g.67940098T>GCA396375628LCATc.1129A>C (p.Thr377Pro)
c.156-24A>C
c.867A>C (n.867A>C)
16g.67940099G>ACA496383852LCATc.1128C>T (p.Ser376=)
c.156-25C>T
c.866C>T (n.866C>T)
COSMIC
16g.67940099G>CCA396375629LCATc.1128C>G (p.Ser376Arg)
c.156-25C>G
c.866C>G (n.866C>G)
16g.67940099G>TCA396375630LCATc.1128C>A (p.Ser376Arg)
c.156-25C>A
c.866C>A (n.866C>A)
16g.67940100C>ACA396375633LCATc.1127G>T (p.Ser376Ile)
c.156-26G>T
c.865G>T (n.865G>T)
16g.67940100C>GCA396375632LCATc.1127G>C (p.Ser376Thr)
c.156-26G>C
c.865G>C (n.865G>C)
16g.67940100C>TCA396375631LCATc.1127G>A (p.Ser376Asn)
c.156-26G>A
c.865G>A (n.865G>A)
gnomAD v4
16g.67940101T>ACA396375634LCATc.1126A>T (p.Ser376Cys)
c.156-27A>T
c.864A>T (n.864A>T)
16g.67940101T>CCA396375635LCATc.1126A>G (p.Ser376Gly)
c.156-27A>G
c.864A>G (n.864A>G)
dbSNP gnomAD v3 gnomAD v4
16g.67940101T>GCA396375636LCATc.1126A>C (p.Ser376Arg)
c.156-27A>C
c.864A>C (n.864A>C)
16g.67940101T=CA2229563207LCATc.1126A= (p.Ser376=)
c.156-27A=
c.864A= (n.864A=)
16g.67940106_67940107insCCCCCATGCGGGCA2597452021LCATc.1126_1127insTGGGGGCCCGCA (p.Arg375_Ser376insMetGlyAlaArg)
c.156-27_156-26insTGGGGGCCCGCA
c.864_865insTGGGGGCCCGCA (n.864_865insTGGGGGCCCGCA)
gnomAD v3 gnomAD v4
16g.67940102G>ACA496383856LCATc.1125C>T (p.Arg375=)
c.156-28C>T
c.863C>T (n.863C>T)
ClinVar
16g.67940102G>CCA496383854LCATc.1125C>G (p.Arg375=)
c.156-28C>G
c.863C>G (n.863C>G)
16g.67940102G>TCA496383855LCATc.1125C>A (p.Arg375=)
c.156-28C>A
c.863C>A (n.863C>A)
16g.67940103C>ACA396375637LCATc.1124G>T (p.Arg375Leu)
c.156-29G>T
c.862G>T (n.862G>T)
16g.67940103C=CA2229563208LCATc.1124G= (p.Arg375=)
c.156-29G=
c.862G= (n.862G=)
16g.67940103C>GCA396375638LCATc.1124G>C (p.Arg375Pro)
c.156-29G>C
c.862G>C (n.862G>C)
16g.67940103C>TCA8120887LCATc.1124G>A (p.Arg375His)
c.156-29G>A
c.862G>A (n.862G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940104G>ACA8120888LCATc.1123C>T (p.Arg375Cys)
c.156-30C>T
c.861C>T (n.861C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940104G>CCA396375639LCATc.1123C>G (p.Arg375Gly)
c.156-30C>G
c.861C>G (n.861C>G)
16g.67940104G=CA2229563209LCATc.1123C= (p.Arg375=)
c.156-30C=
c.861C= (n.861C=)
16g.67940104G>TCA396375640LCATc.1123C>A (p.Arg375Ser)
c.156-30C>A
c.861C>A (n.861C>A)
16g.67940105G>ACA496383859LCATc.1122C>T (p.Thr374=)
c.156-31C>T
c.860C>T (n.860C>T)
16g.67940105G>CCA496383858LCATc.1122C>G (p.Thr374=)
c.156-31C>G
c.860C>G (n.860C>G)
gnomAD v4
16g.67940105G>TCA496383857LCATc.1122C>A (p.Thr374=)
c.156-31C>A
c.860C>A (n.860C>A)
16g.67940106G>ACA396375641LCATc.1121C>T (p.Thr374Ile)
c.156-32C>T
c.859C>T (n.859C>T)
16g.67940106G>CCA396375642LCATc.1121C>G (p.Thr374Ser)
c.156-32C>G
c.859C>G (n.859C>G)
16g.67940106G>TCA396375643LCATc.1121C>A (p.Thr374Asn)
c.156-32C>A
c.859C>A (n.859C>A)
16g.67940107T>ACA396375644LCATc.1120A>T (p.Thr374Ser)
c.156-33A>T
c.858A>T (n.858A>T)
16g.67940107T>CCA396375645LCATc.1120A>G (p.Thr374Ala)
c.156-33A>G
c.858A>G (n.858A>G)
16g.67940107T>GCA396375646LCATc.1120A>C (p.Thr374Pro)
c.156-33A>C
c.858A>C (n.858A>C)
dbSNP gnomAD v2
16g.67940107T=CA2229563210LCATc.1120A= (p.Thr374=)
c.156-33A=
c.858A= (n.858A=)
16g.67940108C>ACA496383860LCATc.1119G>T (p.Ala373=)
c.156-34G>T
c.857G>T (n.857G>T)
gnomAD v4
16g.67940108C=CA2229563211LCATc.1119G= (p.Ala373=)
c.156-34G=
c.857G= (n.857G=)
16g.67940108C>GCA496383861LCATc.1119G>C (p.Ala373=)
c.156-34G>C
c.857G>C (n.857G>C)
16g.67940108C>TCA283160525LCATc.1119G>A (p.Ala373=)
c.156-34G>A
c.857G>A (n.857G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67940109G>ACA8120889LCATc.1118C>T (p.Ala373Val)
c.156-35C>T
c.856C>T (n.856C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.67940109G>CCA396375647LCATc.1118C>G (p.Ala373Gly)
c.156-35C>G
c.856C>G (n.856C>G)
16g.67940109G=CA2229563212LCATc.1118C= (p.Ala373=)
c.156-35C=
c.856C= (n.856C=)
16g.67940109G>TCA396375648LCATc.1118C>A (p.Ala373Glu)
c.156-35C>A
c.856C>A (n.856C>A)
16g.67940110C>ACA396375649LCATc.1117G>T (p.Ala373Ser)
c.156-36G>T
c.855G>T (n.855G>T)
16g.67940110C>GCA396375650LCATc.1117G>C (p.Ala373Pro)
c.156-36G>C
c.855G>C (n.855G>C)
16g.67940110C>TCA396375651LCATc.1117G>A (p.Ala373Thr)
c.156-36G>A
c.855G>A (n.855G>A)
16g.67940112_67940114delCA2633850710LCATc.1115_1117del (p.Val372del)
c.156-38_156-36del
c.853_855del (n.853_855del)
gnomAD v4
16g.67940111C>ACA496383862LCATc.1116G>T (p.Val372=)
c.156-37G>T
c.854G>T (n.854G>T)
16g.67940111C>GCA496383863LCATc.1116G>C (p.Val372=)
c.156-37G>C
c.854G>C (n.854G>C)
16g.67940111C>TCA496383864LCATc.1116G>A (p.Val372=)
c.156-37G>A
c.854G>A (n.854G>A)
16g.67940112A>CCA396375654LCATc.1115T>G (p.Val372Gly)
c.156-38T>G
c.853T>G (n.853T>G)
16g.67940112A>GCA396375652LCATc.1115T>C (p.Val372Ala)
c.156-38T>C
c.853T>C (n.853T>C)
gnomAD v4
16g.67940112A>TCA396375653LCATc.1115T>A (p.Val372Glu)
c.156-38T>A
c.853T>A (n.853T>A)
16g.67940113C>ACA396375655LCATc.1114G>T (p.Val372Leu)
c.156-39G>T
c.852G>T (n.852G>T)
16g.67940113C>GCA396375656LCATc.1114G>C (p.Val372Leu)
c.156-39G>C
c.852G>C (n.852G>C)
16g.67940113C>TCA396375657LCATc.1114G>A (p.Val372Met)
c.156-39G>A
c.852G>A (n.852G>A)
16g.67940114C>ACA496383866LCATc.1113G>T (p.Thr371=)
c.156-40G>T
c.851G>T (n.851G>T)
16g.67940114C=CA2229563213LCATc.1113G= (p.Thr371=)
c.156-40G=
c.851G= (n.851G=)
16g.67940114C>GCA496383867LCATc.1113G>C (p.Thr371=)
c.156-40G>C
c.851G>C (n.851G>C)
gnomAD v4
16g.67940114C>TCA8120890LCATc.1113G>A (p.Thr371=)
c.156-40G>A
c.851G>A (n.851G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940115G>ACA116420LCATc.1112C>T (p.Thr371Met)
c.156-41C>T
c.850C>T (n.850C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940115G>CCA396375658LCATc.1112C>G (p.Thr371Arg)
c.156-41C>G
c.850C>G (n.850C>G)
16g.67940115G=CA2229563214LCATc.1112C= (p.Thr371=)
c.156-41C=
c.850C= (n.850C=)
16g.67940115G>TCA396375659LCATc.1112C>A (p.Thr371Lys)
c.156-41C>A
c.850C>A (n.850C>A)
gnomAD v4
16g.67940116T>ACA396375662LCATc.1111A>T (p.Thr371Ser)
c.156-42A>T
c.849A>T (n.849A>T)
16g.67940116T>CCA396375660LCATc.1111A>G (p.Thr371Ala)
c.156-42A>G
c.849A>G (n.849A>G)
dbSNP gnomAD v3 gnomAD v4
16g.67940116T>GCA396375661LCATc.1111A>C (p.Thr371Pro)
c.156-42A>C
c.849A>C (n.849A>C)
16g.67940116T=CA2229563215LCATc.1111A= (p.Thr371=)
c.156-42A=
c.849A= (n.849A=)
16g.67940117G>ACA496383869LCATc.1110C>T (p.Asp370=)
c.156-43C>T
c.848C>T (n.848C>T)
16g.67940117G>CCA396375663LCATc.1110C>G (p.Asp370Glu)
c.156-43C>G
c.848C>G (n.848C>G)
16g.67940117G>TCA396375664LCATc.1110C>A (p.Asp370Glu)
c.156-43C>A
c.848C>A (n.848C>A)
16g.67940117_67940120delinsGTCACA2229563216LCATc.1107_1110delinsTGAC (p.Asp369=)
c.156-46_156-43delinsTGAC
c.845_848delinsTGAC (n.845_848delinsTGAC)
16g.67940118T>ACA396375665LCATc.1109A>T (p.Asp370Val)
c.156-44A>T
c.847A>T (n.847A>T)
16g.67940118T>CCA396375666LCATc.1109A>G (p.Asp370Gly)
c.156-44A>G
c.847A>G (n.847A>G)
16g.67940118T>GCA396375667LCATc.1109A>C (p.Asp370Ala)
c.156-44A>C
c.847A>C (n.847A>C)
16g.67940121_67940123delCA623122337LCATc.1107_1109del (p.Asp370del)
c.156-46_156-44del
c.845_847del (n.845_847del)
dbSNP gnomAD v2 gnomAD v4
16g.67940119C>ACA396375668LCATc.1108G>T (p.Asp370Tyr)
c.156-45G>T
c.846G>T (n.846G>T)
16g.67940119C=CA2229563217LCATc.1108G= (p.Asp370=)
c.156-45G=
c.846G= (n.846G=)
16g.67940119C>GCA396375670LCATc.1108G>C (p.Asp370His)
c.156-45G>C
c.846G>C (n.846G>C)
16g.67940119C>TCA396375669LCATc.1108G>A (p.Asp370Asn)
c.156-45G>A
c.846G>A (n.846G>A)
dbSNP gnomAD v2 gnomAD v4
16g.67940120A>CCA396375671LCATc.1107T>G (p.Asp369Glu)
c.156-46T>G
c.845T>G (n.845T>G)
16g.67940120A>GCA496383871LCATc.1107T>C (p.Asp369=)
c.156-46T>C
c.845T>C (n.845T>C)
16g.67940120A>TCA396375672LCATc.1107T>A (p.Asp369Glu)
c.156-46T>A
c.845T>A (n.845T>A)
16g.67940121T>ACA396375673LCATc.1106A>T (p.Asp369Val)
c.156-47A>T
c.844A>T (n.844A>T)
16g.67940121T>CCA396375674LCATc.1106A>G (p.Asp369Gly)
c.156-47A>G
c.844A>G (n.844A>G)
gnomAD v4
16g.67940121T>GCA396375675LCATc.1106A>C (p.Asp369Ala)
c.156-47A>C
c.844A>C (n.844A>C)
16g.67940121_67940124delinsTCACCA2229563218LCATc.1103_1106delinsGTGA (p.Gly368=)
c.156-50_156-47delinsGTGA
c.841_844delinsGTGA (n.841_844delinsGTGA)
16g.67940122C>ACA396375676LCATc.1105G>T (p.Asp369Tyr)
c.156-48G>T
c.843G>T (n.843G>T)
16g.67940122C>GCA396375677LCATc.1105G>C (p.Asp369His)
c.156-48G>C
c.843G>C (n.843G>C)
16g.67940122C>TCA396375678LCATc.1105G>A (p.Asp369Asn)
c.156-48G>A
c.843G>A (n.843G>A)
gnomAD v4
16g.67940124_67940126delCA8120891LCATc.1103_1105del (p.Gly368del)
c.156-50_156-48del
c.841_843del (n.841_843del)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940123A>CCA496383877LCATc.1104T>G (p.Gly368=)
c.156-49T>G
c.842T>G (n.842T>G)
16g.67940123A>GCA496383876LCATc.1104T>C (p.Gly368=)
c.156-49T>C
c.842T>C (n.842T>C)
dbSNP gnomAD v4
16g.67940123A>TCA496383875LCATc.1104T>A (p.Gly368=)
c.156-49T>A
c.842T>A (n.842T>A)
16g.67940124C>ACA8120892LCATc.1103G>T (p.Gly368Val)
c.156-50G>T
c.841G>T (n.841G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940124C=CA2229563219LCATc.1103G= (p.Gly368=)
c.156-50G=
c.841G= (n.841G=)
16g.67940124C>GCA396375679LCATc.1103G>C (p.Gly368Ala)
c.156-50G>C
c.841G>C (n.841G>C)
16g.67940124C>TCA396375680LCATc.1103G>A (p.Gly368Asp)
c.156-50G>A
c.841G>A (n.841G>A)
16g.67940125C>ACA396375681LCATc.1102G>T (p.Gly368Cys)
c.156-51G>T
c.840G>T (n.840G>T)
16g.67940125C=CA2229563220LCATc.1102G= (p.Gly368=)
c.156-51G=
c.840G= (n.840G=)
16g.67940125C>GCA396375682LCATc.1102G>C (p.Gly368Arg)
c.156-51G>C
c.840G>C (n.840G>C)
16g.67940125C>TCA8120893LCATc.1102G>A (p.Gly368Ser)
c.156-51G>A
c.840G>A (n.840G>A)
dbSNP ExAC gnomAD v4
16g.67940126A=CA2229563221LCATc.1101T= (p.Asp367=)
c.156-52T=
c.839T= (n.839T=)
16g.67940126A>CCA396375683LCATc.1101T>G (p.Asp367Glu)
c.156-52T>G
c.839T>G (n.839T>G)
16g.67940126A>GCA8120894LCATc.1101T>C (p.Asp367=)
c.156-52T>C
c.839T>C (n.839T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940126A>TCA396375684LCATc.1101T>A (p.Asp367Glu)
c.156-52T>A
c.839T>A (n.839T>A)
16g.67940127T>ACA396375685LCATc.1100A>T (p.Asp367Val)
c.156-53A>T
c.838A>T (n.838A>T)
16g.67940127T>CCA396375686LCATc.1100A>G (p.Asp367Gly)
c.156-53A>G
c.838A>G (n.838A>G)
16g.67940127T>GCA396375687LCATc.1100A>C (p.Asp367Ala)
c.156-53A>C
c.838A>C (n.838A>C)
16g.67940128C>ACA396375688LCATc.1099G>T (p.Asp367Tyr)
c.156-54G>T
c.837G>T (n.837G>T)
16g.67940128C>GCA396375689LCATc.1099G>C (p.Asp367His)
c.156-54G>C
c.837G>C (n.837G>C)
COSMIC
16g.67940128C>TCA396375690LCATc.1099G>A (p.Asp367Asn)
c.156-54G>A
c.837G>A (n.837G>A)
gnomAD v4
16g.67940129C>ACA396375691LCATc.1098G>T (p.Glu366Asp)
c.156-55G>T
c.836G>T (n.836G>T)
16g.67940129C=CA2229563222LCATc.1098G= (p.Glu366=)
c.156-55G=
c.836G= (n.836G=)
16g.67940129C>GCA396375692LCATc.1098G>C (p.Glu366Asp)
c.156-55G>C
c.836G>C (n.836G>C)
16g.67940129C>TCA496383884LCATc.1098G>A (p.Glu366=)
c.156-55G>A
c.836G>A (n.836G>A)
ClinVar dbSNP
16g.67940130T>ACA396375693LCATc.1097A>T (p.Glu366Val)
c.156-56A>T
c.835A>T (n.835A>T)
16g.67940130T>CCA396375694LCATc.1097A>G (p.Glu366Gly)
c.156-56A>G
c.835A>G (n.835A>G)
gnomAD v4
16g.67940130T>GCA396375695LCATc.1097A>C (p.Glu366Ala)
c.156-56A>C
c.835A>C (n.835A>C)
16g.67940131C>ACA396375697LCATc.1096G>T (p.Glu366Ter)
c.156-57G>T
c.834G>T (n.834G>T)
16g.67940131C=CA2229563223LCATc.1096G= (p.Glu366=)
c.156-57G=
c.834G= (n.834G=)
16g.67940131C>GCA396375696LCATc.1096G>C (p.Glu366Gln)
c.156-57G>C
c.834G>C (n.834G>C)
16g.67940131C>TCA8120895LCATc.1096G>A (p.Glu366Lys)
c.156-57G>A
c.834G>A (n.834G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940132A=CA2229563224LCATc.1095T= (p.Tyr365=)
c.156-58T=
c.833T= (n.833T=)
16g.67940132A>CCA396375698LCATc.1095T>G (p.Tyr365Ter)
c.156-58T>G
c.833T>G (n.833T>G)
16g.67940132A>GCA496383888LCATc.1095T>C (p.Tyr365=)
c.156-58T>C
c.833T>C (n.833T>C)
dbSNP
16g.67940132A>TCA396375699LCATc.1095T>A (p.Tyr365Ter)
c.156-58T>A
c.833T>A (n.833T>A)
16g.67940133delCA2576033439LCATc.1094del (p.Tyr365LeufsTer?)
c.156-59del
c.832del (n.832del)
16g.67940133T>ACA396375700LCATc.1094A>T (p.Tyr365Phe)
c.156-59A>T
c.832A>T (n.832A>T)
16g.67940133T>CCA396375701LCATc.1094A>G (p.Tyr365Cys)
c.156-59A>G
c.832A>G (n.832A>G)
dbSNP gnomAD v3 gnomAD v4
16g.67940133T>GCA396375702LCATc.1094A>C (p.Tyr365Ser)
c.156-59A>C
c.832A>C (n.832A>C)
16g.67940133T=CA2229563225LCATc.1094A= (p.Tyr365=)
c.156-59A=
c.832A= (n.832A=)
16g.67940134A=CA2229563226LCATc.1093T= (p.Tyr365=)
c.156-60T=
c.831T= (n.831T=)
16g.67940134A>CCA396375703LCATc.1093T>G (p.Tyr365Asp)
c.156-60T>G
c.831T>G (n.831T>G)
16g.67940134A>GCA8120896LCATc.1093T>C (p.Tyr365His)
c.156-60T>C
c.831T>C (n.831T>C)
dbSNP ExAC gnomAD v4
16g.67940134A>TCA396375704LCATc.1093T>A (p.Tyr365Asn)
c.156-60T>A
c.831T>A (n.831T>A)
16g.67940135G>ACA496383891LCATc.1092C>T (p.Leu364=)
c.156-61C>T
c.830C>T (n.830C>T)
16g.67940135G>CCA496383892LCATc.1092C>G (p.Leu364=)
c.156-61C>G
c.830C>G (n.830C>G)
16g.67940135G>TCA496383893LCATc.1092C>A (p.Leu364=)
c.156-61C>A
c.830C>A (n.830C>A)
16g.67940136A>CCA396375705LCATc.1091T>G (p.Leu364Arg)
c.156-62T>G
c.829T>G (n.829T>G)
16g.67940136A>GCA396375706LCATc.1091T>C (p.Leu364Pro)
c.156-62T>C
c.829T>C (n.829T>C)
16g.67940136A>TCA396375707LCATc.1091T>A (p.Leu364His)
c.156-62T>A
c.829T>A (n.829T>A)
16g.67940137G>ACA396375709LCATc.1090C>T (p.Leu364Phe)
c.156-63C>T
c.828C>T (n.828C>T)
gnomAD v4
16g.67940137G>CCA396375710LCATc.1090C>G (p.Leu364Val)
c.156-63C>G
c.828C>G (n.828C>G)
16g.67940137G>TCA396375708LCATc.1090C>A (p.Leu364Ile)
c.156-63C>A
c.828C>A (n.828C>A)
16g.67940138C>ACA496383896LCATc.1089G>T (p.Val363=)
c.156-64G>T
c.827G>T (n.827G>T)
16g.67940138C>GCA496383897LCATc.1089G>C (p.Val363=)
c.156-64G>C
c.827G>C (n.827G>C)
gnomAD v4
16g.67940138C>TCA496383898LCATc.1089G>A (p.Val363=)
c.156-64G>A
c.827G>A (n.827G>A)
16g.67940139A>CCA396375711LCATc.1088T>G (p.Val363Gly)
c.156-65T>G
c.826T>G (n.826T>G)
16g.67940139A>GCA396375712LCATc.1088T>C (p.Val363Ala)
c.156-65T>C
c.826T>C (n.826T>C)
16g.67940139A>TCA396375713LCATc.1088T>A (p.Val363Glu)
c.156-65T>A
c.826T>A (n.826T>A)
ClinVar
16g.67940140C>ACA396375714LCATc.1087G>T (p.Val363Leu)
c.156-66G>T
c.825G>T (n.825G>T)
16g.67940140C>GCA396375715LCATc.1087G>C (p.Val363Leu)
c.156-66G>C
c.825G>C (n.825G>C)
16g.67940140C>TCA396375716LCATc.1087G>A (p.Val363Met)
c.156-66G>A
c.825G>A (n.825G>A)
16g.67940141A=CA2229563227LCATc.1086T= (p.Gly362=)
c.156-67T=
c.824T= (n.824T=)
16g.67940141A>CCA496383902LCATc.1086T>G (p.Gly362=)
c.156-67T>G
c.824T>G (n.824T>G)
dbSNP
16g.67940141A>GCA496383903LCATc.1086T>C (p.Gly362=)
c.156-67T>C
c.824T>C (n.824T>C)
16g.67940141A>TCA496383904LCATc.1086T>A (p.Gly362=)
c.156-67T>A
c.824T>A (n.824T>A)

Number of alleles fetched