Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.240869049_240869122dupCA275557AGXTc.165+19_166-48dup (p.=)
n.185+19_186-48dup
n.405+1116_405+1189dup
ClinVar dbSNP
2g.240869045_240869152dupCA915948958AGXTc.165+15_166-18dup (p.=)
n.185+15_186-18dup
n.405+1082_405+1189dup
2g.240869092_240869093insCCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGCA1044064798AGXTc.165+62_165+63insCCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG (p.=)
n.185+62_185+63insCCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGGCCACGATCTGTGGGTGGG
2g.240869093_240869094insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACA1044064800AGXTc.165+63_165+64insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA (p.=)
n.185+63_185+64insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCATCCACGATCTGTGGGTGGG
dbSNP
2g.240869100_240869101insGGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGACA1044064803AGXTc.166-70_166-69insGGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA (p.=)
n.186-70_186-69insGGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCCTCCCTCGTCCACGATCTGTGGGTGGG
dbSNP
2g.240869103_240869104insTGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGCA1044064807AGXTc.166-67_166-66insTGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG (p.=)
n.186-67_186-66insTGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGCCCACCTTCCCTCGTCCACGATCTGTGGGTGGG
2g.240869105_240869106insCTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGCA1044064823AGXTc.166-65_166-64insCTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG (p.=)
n.186-65_186-64insCTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGAGCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
2g.240869105_240869106insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGCA1044064824AGXTc.166-65_166-64insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG (p.=)
n.186-65_186-64insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGATCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
dbSNP
2g.240869105_240869106insTTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGCA1044064811AGXTc.166-65_166-64insTTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG (p.=)
n.186-65_186-64insTTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGAACCCCTTCCCTCGTCCACGATCTGTGGGTGGG
dbSNP
2g.240869106_240869107insGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGCA1044064822AGXTc.166-64_166-63insGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG (p.=)
n.186-64_186-63insGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGCCCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
2g.240869110_240869111insCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACCA1044064789AGXTc.166-60_166-59insCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC (p.=)
n.186-60_186-59insCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCGGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGCCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2505547104AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGCCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (p.=)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGCCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGGCCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
2g.240869113_240869114insTCCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA1044064821AGXTc.166-57_166-56insTCCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (p.=)
n.186-57_186-56insTCCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGGAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
2g.240869113_240869114insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA1044064814AGXTc.166-57_166-56insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (p.=)
n.186-57_186-56insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGAGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
2g.240869113_240869114insTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA1044064815AGXTc.166-57_166-56insTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (p.=)
n.186-57_186-56insTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCAAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
dbSNP
2g.240869113_240869114insTGCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA540752881AGXTc.166-57_166-56insTGCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (p.=)
n.186-57_186-56insTGCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGCAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
dbSNP gnomAD
2g.240869113_240869114insTTCCTCACTGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA1044064816AGXTc.166-57_166-56insTTCCTCACTGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (p.=)
n.186-57_186-56insTTCCTCACTGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCCAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGGCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA1044064820AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGGCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (p.=)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGGCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGCCCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2209004AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (p.=)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
dbSNP ExAC gnomAD
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCATCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2510054526AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCATCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (p.=)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCATCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1153_405+1154insATGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGG
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGCTCGTGGACGAGGGAAGGGGGTCACTGCCA1044064832AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGCTCGTGGACGAGGGAAGGGGGTCACTGC (p.=)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGCTCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1146_405+1147insGCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGA
2g.240869089_240869092delCA1044064834AGXTc.165+59_165+62del (p.=)
n.185+59_185+62del
n.405+1141_405+1144del
2g.240869094C>ACA68173639AGXTc.165+64C>A (p.=)
n.185+64C>A
n.405+1139G>T
dbSNP gnomAD
2g.240869094C=CA1339330864AGXTc.165+64C= (p.=)
n.185+64C=
n.405+1139G=
2g.240869094C>TCA766960545AGXTc.165+64C>T (p.=)
n.185+64C>T
n.405+1139G>A
2g.240869095G>ACA68173641AGXTc.165+65G>A (p.=)
n.185+65G>A
n.405+1138C>T
dbSNP gnomAD
2g.240869095G=CA1339330865AGXTc.165+65G= (p.=)
n.185+65G=
n.405+1138C=
2g.240869096A=CA1339330867AGXTc.165+66A= (p.=)
n.185+66A=
n.405+1137T=
2g.240869096A>TCA1044064837AGXTc.165+66A>T (p.=)
n.185+66A>T
n.405+1137T>A
2g.240869096_240869097delinsAGCA1339330866AGXTc.165+66_165+67delinsAG (p.=)
n.185+66_185+67delinsAG
n.405+1136_405+1137delinsCT
2g.240869097G>ACA540752885AGXTc.165+67G>A (p.=)
n.185+67G>A
n.405+1136C>T
gnomAD
2g.240869097G=CA1339330868AGXTc.165+67G= (p.=)
n.185+67G=
n.405+1136C=
2g.240869099delCA766960547AGXTc.165+69del (p.=)
n.185+69del
n.405+1136del
dbSNP
2g.240869099_240869102delinsGAAGCA1339330869AGXTc.165+69_166-68delinsGAAG (p.=)
n.185+69_186-68delinsGAAG
n.405+1131_405+1134delinsCTTC
2g.240869100A=CA1339330870AGXTc.166-70A= (p.=)
n.186-70A=
n.405+1133T=
2g.240869100A>GCA540752886AGXTc.166-70A>G (p.=)
n.186-70A>G
n.405+1133T>C
gnomAD
2g.240869100_240869102delinsGACA68173644AGXTc.166-70_166-68delinsGA (p.=)
n.186-70_186-68delinsGA
n.405+1131_405+1133delinsTC
dbSNP
2g.240869101_240869102delinsAGCA1339330871AGXTc.166-69_166-68delinsAG (p.=)
n.186-69_186-68delinsAG
n.405+1131_405+1132delinsCT
2g.240869102G>ACA766960553AGXTc.166-68G>A (p.=)
n.186-68G>A
n.405+1131C>T
2g.240869102G=CA1339330872AGXTc.166-68G= (p.=)
n.186-68G=
n.405+1131C=
2g.240869106delCA68173646AGXTc.166-64del (p.=)
n.186-64del
n.405+1131del
dbSNP gnomAD
2g.240869103G>ACA68173648AGXTc.166-67G>A (p.=)
n.186-67G>A
n.405+1130C>T
dbSNP gnomAD
2g.240869103G=CA1339330873AGXTc.166-67G= (p.=)
n.186-67G=
n.405+1130C=
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGAAAGGGGTCACTGCCA1044064843AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGAAAGGGGTCACTGC (p.=)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGAAAGGGGTCACTGC
n.405+1130_405+1131insTTTCCTCGTCCACGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCC
dbSNP
2g.240869106G>ACA766960554AGXTc.166-64G>A (p.=)
n.186-64G>A
n.405+1127C>T
2g.240869106G=CA1339330874AGXTc.166-64G= (p.=)
n.186-64G=
n.405+1127C=
2g.240869106G>TCA1339330875AGXTc.166-64G>T (p.=)
n.186-64G>T
n.405+1127C>A
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGAGTCACTGCCA2557481665AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGAGTCACTGC (p.=)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGAGTCACTGC
n.405+1127_405+1128insTCCCTTCCCTCGTCCACGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGAC
2g.240869108C=CA1339330876AGXTc.166-62C= (p.=)
n.186-62C=
n.405+1125G=
2g.240869108C>TCA540752887AGXTc.166-62C>T (p.=)
n.186-62C>T
n.405+1125G>A
gnomAD

Number of alleles fetched