Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.38955546_38955613delCA2673646936RICTORc.2592_2609+50del
c.552_569+50del
c.2544_2561+50del
n.552_569+50del
c.*1816_*1833+50del
c.1737_1754+50del
c.2403_2420+50del
c.2433_2450+50del
gnomAD v4
5g.38955572A>GCA2673646954RICTORc.2609+23T>C (n.2609+23T>C)
c.569+23T>C (n.569+23T>C)
c.2561+23T>C (n.2561+23T>C)
n.569+23T>C
c.*1833+23T>C (n.*1833+23T>C)
c.1754+23T>C (n.1754+23T>C)
c.2420+23T>C (n.2420+23T>C)
c.2450+23T>C (n.2450+23T>C)
gnomAD v4
5g.38955572A>TCA2673646955RICTORc.2609+23T>A (n.2609+23T>A)
c.569+23T>A (n.569+23T>A)
c.2561+23T>A (n.2561+23T>A)
n.569+23T>A
c.*1833+23T>A (n.*1833+23T>A)
c.1754+23T>A (n.1754+23T>A)
c.2420+23T>A (n.2420+23T>A)
c.2450+23T>A (n.2450+23T>A)
gnomAD v4
5g.38955573A>TCA2578295766RICTORc.2609+22T>A (n.2609+22T>A)
c.569+22T>A (n.569+22T>A)
c.2561+22T>A (n.2561+22T>A)
n.569+22T>A
c.*1833+22T>A (n.*1833+22T>A)
c.1754+22T>A (n.1754+22T>A)
c.2420+22T>A (n.2420+22T>A)
c.2450+22T>A (n.2450+22T>A)
5g.38955574A>GCA2578295767RICTORc.2609+21T>C (n.2609+21T>C)
c.569+21T>C (n.569+21T>C)
c.2561+21T>C (n.2561+21T>C)
n.569+21T>C
c.*1833+21T>C (n.*1833+21T>C)
c.1754+21T>C (n.1754+21T>C)
c.2420+21T>C (n.2420+21T>C)
c.2450+21T>C (n.2450+21T>C)
gnomAD v4
5g.38955575T>GCA2708997515RICTORc.2609+20A>C (n.2609+20A>C)
c.569+20A>C (n.569+20A>C)
c.2561+20A>C (n.2561+20A>C)
n.569+20A>C
c.*1833+20A>C (n.*1833+20A>C)
c.1754+20A>C (n.1754+20A>C)
c.2420+20A>C (n.2420+20A>C)
c.2450+20A>C (n.2450+20A>C)
dbSNP
5g.38955576C>ACA2673646957RICTORc.2609+19G>T (n.2609+19G>T)
c.569+19G>T (n.569+19G>T)
c.2561+19G>T (n.2561+19G>T)
n.569+19G>T
c.*1833+19G>T (n.*1833+19G>T)
c.1754+19G>T (n.1754+19G>T)
c.2420+19G>T (n.2420+19G>T)
c.2450+19G>T (n.2450+19G>T)
gnomAD v4
5g.38955576C=CA1540476067RICTORc.2609+19G= (n.2609+19G=)
c.569+19G= (n.569+19G=)
c.2561+19G= (n.2561+19G=)
n.569+19G=
c.*1833+19G= (n.*1833+19G=)
c.1754+19G= (n.1754+19G=)
c.2420+19G= (n.2420+19G=)
c.2450+19G= (n.2450+19G=)
5g.38955576C>GCA3245083RICTORc.2609+19G>C (n.2609+19G>C)
c.569+19G>C (n.569+19G>C)
c.2561+19G>C (n.2561+19G>C)
n.569+19G>C
c.*1833+19G>C (n.*1833+19G>C)
c.1754+19G>C (n.1754+19G>C)
c.2420+19G>C (n.2420+19G>C)
c.2450+19G>C (n.2450+19G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.38955577T>ACA2673646958RICTORc.2609+18A>T (n.2609+18A>T)
c.569+18A>T (n.569+18A>T)
c.2561+18A>T (n.2561+18A>T)
n.569+18A>T
c.*1833+18A>T (n.*1833+18A>T)
c.1754+18A>T (n.1754+18A>T)
c.2420+18A>T (n.2420+18A>T)
c.2450+18A>T (n.2450+18A>T)
gnomAD v4
5g.38955577T>CCA2673646960RICTORc.2609+18A>G (n.2609+18A>G)
c.569+18A>G (n.569+18A>G)
c.2561+18A>G (n.2561+18A>G)
n.569+18A>G
c.*1833+18A>G (n.*1833+18A>G)
c.1754+18A>G (n.1754+18A>G)
c.2420+18A>G (n.2420+18A>G)
c.2450+18A>G (n.2450+18A>G)
gnomAD v4
5g.38955578G>ACA2673646962RICTORc.2609+17C>T (n.2609+17C>T)
c.569+17C>T (n.569+17C>T)
c.2561+17C>T (n.2561+17C>T)
n.569+17C>T
c.*1833+17C>T (n.*1833+17C>T)
c.1754+17C>T (n.1754+17C>T)
c.2420+17C>T (n.2420+17C>T)
c.2450+17C>T (n.2450+17C>T)
gnomAD v4
5g.38955578G>TCA2673646961RICTORc.2609+17C>A (n.2609+17C>A)
c.569+17C>A (n.569+17C>A)
c.2561+17C>A (n.2561+17C>A)
n.569+17C>A
c.*1833+17C>A (n.*1833+17C>A)
c.1754+17C>A (n.1754+17C>A)
c.2420+17C>A (n.2420+17C>A)
c.2450+17C>A (n.2450+17C>A)
gnomAD v4
5g.38955579A=CA1540476068RICTORc.2609+16T= (n.2609+16T=)
c.569+16T= (n.569+16T=)
c.2561+16T= (n.2561+16T=)
n.569+16T=
c.*1833+16T= (n.*1833+16T=)
c.1754+16T= (n.1754+16T=)
c.2420+16T= (n.2420+16T=)
c.2450+16T= (n.2450+16T=)
5g.38955579A>CCA2578295768RICTORc.2609+16T>G (n.2609+16T>G)
c.569+16T>G (n.569+16T>G)
c.2561+16T>G (n.2561+16T>G)
n.569+16T>G
c.*1833+16T>G (n.*1833+16T>G)
c.1754+16T>G (n.1754+16T>G)
c.2420+16T>G (n.2420+16T>G)
c.2450+16T>G (n.2450+16T>G)
5g.38955579A>GCA3245084RICTORc.2609+16T>C (n.2609+16T>C)
c.569+16T>C (n.569+16T>C)
c.2561+16T>C (n.2561+16T>C)
n.569+16T>C
c.*1833+16T>C (n.*1833+16T>C)
c.1754+16T>C (n.1754+16T>C)
c.2420+16T>C (n.2420+16T>C)
c.2450+16T>C (n.2450+16T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.38955580T>CCA2673646964RICTORc.2609+15A>G (n.2609+15A>G)
c.569+15A>G (n.569+15A>G)
c.2561+15A>G (n.2561+15A>G)
n.569+15A>G
c.*1833+15A>G (n.*1833+15A>G)
c.1754+15A>G (n.1754+15A>G)
c.2420+15A>G (n.2420+15A>G)
c.2450+15A>G (n.2450+15A>G)
gnomAD v4
5g.38955580dupCA559054392RICTORc.2609+15dup (n.2609+15dup)
c.569+15dup (n.569+15dup)
c.2561+15dup (n.2561+15dup)
n.569+15dup
c.*1833+15dup (n.*1833+15dup)
c.1754+15dup (n.1754+15dup)
c.2420+15dup (n.2420+15dup)
c.2450+15dup (n.2450+15dup)
dbSNP gnomAD v2 gnomAD v4
5g.38955581A>GCA2673646965RICTORc.2609+14T>C (n.2609+14T>C)
c.569+14T>C (n.569+14T>C)
c.2561+14T>C (n.2561+14T>C)
n.569+14T>C
c.*1833+14T>C (n.*1833+14T>C)
c.1754+14T>C (n.1754+14T>C)
c.2420+14T>C (n.2420+14T>C)
c.2450+14T>C (n.2450+14T>C)
gnomAD v4
5g.38955582A>GCA2673646967RICTORc.2609+13T>C (n.2609+13T>C)
c.569+13T>C (n.569+13T>C)
c.2561+13T>C (n.2561+13T>C)
n.569+13T>C
c.*1833+13T>C (n.*1833+13T>C)
c.1754+13T>C (n.1754+13T>C)
c.2420+13T>C (n.2420+13T>C)
c.2450+13T>C (n.2450+13T>C)
gnomAD v4
5g.38955582A>TCA2673646968RICTORc.2609+13T>A (n.2609+13T>A)
c.569+13T>A (n.569+13T>A)
c.2561+13T>A (n.2561+13T>A)
n.569+13T>A
c.*1833+13T>A (n.*1833+13T>A)
c.1754+13T>A (n.1754+13T>A)
c.2420+13T>A (n.2420+13T>A)
c.2450+13T>A (n.2450+13T>A)
gnomAD v4
5g.38955584_38955590delCA2673646966RICTORc.2609+7_2609+13del (n.2609+7_2609+13del)
c.569+7_569+13del (n.569+7_569+13del)
c.2561+7_2561+13del (n.2561+7_2561+13del)
n.569+7_569+13del
c.*1833+7_*1833+13del (n.*1833+7_*1833+13del)
c.1754+7_1754+13del (n.1754+7_1754+13del)
c.2420+7_2420+13del (n.2420+7_2420+13del)
c.2450+7_2450+13del (n.2450+7_2450+13del)
gnomAD v4
5g.38955583C>TCA2578295769RICTORc.2609+12G>A (n.2609+12G>A)
c.569+12G>A (n.569+12G>A)
c.2561+12G>A (n.2561+12G>A)
n.569+12G>A
c.*1833+12G>A (n.*1833+12G>A)
c.1754+12G>A (n.1754+12G>A)
c.2420+12G>A (n.2420+12G>A)
c.2450+12G>A (n.2450+12G>A)
gnomAD v4
5g.38955584T>CCA2673646970RICTORc.2609+11A>G (n.2609+11A>G)
c.569+11A>G (n.569+11A>G)
c.2561+11A>G (n.2561+11A>G)
n.569+11A>G
c.*1833+11A>G (n.*1833+11A>G)
c.1754+11A>G (n.1754+11A>G)
c.2420+11A>G (n.2420+11A>G)
c.2450+11A>G (n.2450+11A>G)
gnomAD v4
5g.38955584T>GCA2673646971RICTORc.2609+11A>C (n.2609+11A>C)
c.569+11A>C (n.569+11A>C)
c.2561+11A>C (n.2561+11A>C)
n.569+11A>C
c.*1833+11A>C (n.*1833+11A>C)
c.1754+11A>C (n.1754+11A>C)
c.2420+11A>C (n.2420+11A>C)
c.2450+11A>C (n.2450+11A>C)
gnomAD v4
5g.38955584_38955585delinsTGCA1540476069RICTORc.2609+10_2609+11delinsCA (n.2609+10_2609+11delinsCA)
c.569+10_569+11delinsCA (n.569+10_569+11delinsCA)
c.2561+10_2561+11delinsCA (n.2561+10_2561+11delinsCA)
n.569+10_569+11delinsCA
c.*1833+10_*1833+11delinsCA (n.*1833+10_*1833+11delinsCA)
c.1754+10_1754+11delinsCA (n.1754+10_1754+11delinsCA)
c.2420+10_2420+11delinsCA (n.2420+10_2420+11delinsCA)
c.2450+10_2450+11delinsCA (n.2450+10_2450+11delinsCA)
5g.38955585G>ACA559054396RICTORc.2609+10C>T (n.2609+10C>T)
c.569+10C>T (n.569+10C>T)
c.2561+10C>T (n.2561+10C>T)
n.569+10C>T
c.*1833+10C>T (n.*1833+10C>T)
c.1754+10C>T (n.1754+10C>T)
c.2420+10C>T (n.2420+10C>T)
c.2450+10C>T (n.2450+10C>T)
dbSNP gnomAD v2 gnomAD v4
5g.38955585G>CCA117169844RICTORc.2609+10C>G (n.2609+10C>G)
c.569+10C>G (n.569+10C>G)
c.2561+10C>G (n.2561+10C>G)
n.569+10C>G
c.*1833+10C>G (n.*1833+10C>G)
c.1754+10C>G (n.1754+10C>G)
c.2420+10C>G (n.2420+10C>G)
c.2450+10C>G (n.2450+10C>G)
dbSNP gnomAD v4
5g.38955585G=CA1540476070RICTORc.2609+10C= (n.2609+10C=)
c.569+10C= (n.569+10C=)
c.2561+10C= (n.2561+10C=)
n.569+10C=
c.*1833+10C= (n.*1833+10C=)
c.1754+10C= (n.1754+10C=)
c.2420+10C= (n.2420+10C=)
c.2450+10C= (n.2450+10C=)
5g.38955585G>TCA2673646974RICTORc.2609+10C>A (n.2609+10C>A)
c.569+10C>A (n.569+10C>A)
c.2561+10C>A (n.2561+10C>A)
n.569+10C>A
c.*1833+10C>A (n.*1833+10C>A)
c.1754+10C>A (n.1754+10C>A)
c.2420+10C>A (n.2420+10C>A)
c.2450+10C>A (n.2450+10C>A)
gnomAD v4
5g.38955587delCA3245085RICTORc.2609+10del (n.2609+10del)
c.569+10del (n.569+10del)
c.2561+10del (n.2561+10del)
n.569+10del
c.*1833+10del (n.*1833+10del)
c.1754+10del (n.1754+10del)
c.2420+10del (n.2420+10del)
c.2450+10del (n.2450+10del)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.38955586_38955587delCA2673646978RICTORc.2609+9_2609+10del (n.2609+9_2609+10del)
c.569+9_569+10del (n.569+9_569+10del)
c.2561+9_2561+10del (n.2561+9_2561+10del)
n.569+9_569+10del
c.*1833+9_*1833+10del (n.*1833+9_*1833+10del)
c.1754+9_1754+10del (n.1754+9_1754+10del)
c.2420+9_2420+10del (n.2420+9_2420+10del)
c.2450+9_2450+10del (n.2450+9_2450+10del)
gnomAD v4
5g.38955586G>ACA559054398RICTORc.2609+9C>T (n.2609+9C>T)
c.569+9C>T (n.569+9C>T)
c.2561+9C>T (n.2561+9C>T)
n.569+9C>T
c.*1833+9C>T (n.*1833+9C>T)
c.1754+9C>T (n.1754+9C>T)
c.2420+9C>T (n.2420+9C>T)
c.2450+9C>T (n.2450+9C>T)
dbSNP gnomAD v2 gnomAD v4
5g.38955586G>CCA2578295770RICTORc.2609+9C>G (n.2609+9C>G)
c.569+9C>G (n.569+9C>G)
c.2561+9C>G (n.2561+9C>G)
n.569+9C>G
c.*1833+9C>G (n.*1833+9C>G)
c.1754+9C>G (n.1754+9C>G)
c.2420+9C>G (n.2420+9C>G)
c.2450+9C>G (n.2450+9C>G)
5g.38955586G=CA1540476071RICTORc.2609+9C= (n.2609+9C=)
c.569+9C= (n.569+9C=)
c.2561+9C= (n.2561+9C=)
n.569+9C=
c.*1833+9C= (n.*1833+9C=)
c.1754+9C= (n.1754+9C=)
c.2420+9C= (n.2420+9C=)
c.2450+9C= (n.2450+9C=)
5g.38955586G>TCA2673646985RICTORc.2609+9C>A (n.2609+9C>A)
c.569+9C>A (n.569+9C>A)
c.2561+9C>A (n.2561+9C>A)
n.569+9C>A
c.*1833+9C>A (n.*1833+9C>A)
c.1754+9C>A (n.1754+9C>A)
c.2420+9C>A (n.2420+9C>A)
c.2450+9C>A (n.2450+9C>A)
gnomAD v4
5g.38955587G>ACA2578295771RICTORc.2609+8C>T (n.2609+8C>T)
c.569+8C>T (n.569+8C>T)
c.2561+8C>T (n.2561+8C>T)
n.569+8C>T
c.*1833+8C>T (n.*1833+8C>T)
c.1754+8C>T (n.1754+8C>T)
c.2420+8C>T (n.2420+8C>T)
c.2450+8C>T (n.2450+8C>T)
dbSNP gnomAD v4
5g.38955587G>TCA2673646989RICTORc.2609+8C>A (n.2609+8C>A)
c.569+8C>A (n.569+8C>A)
c.2561+8C>A (n.2561+8C>A)
n.569+8C>A
c.*1833+8C>A (n.*1833+8C>A)
c.1754+8C>A (n.1754+8C>A)
c.2420+8C>A (n.2420+8C>A)
c.2450+8C>A (n.2450+8C>A)
gnomAD v4
5g.38955588T>CCA2673646991RICTORc.2609+7A>G (n.2609+7A>G)
c.569+7A>G (n.569+7A>G)
c.2561+7A>G (n.2561+7A>G)
n.569+7A>G
c.*1833+7A>G (n.*1833+7A>G)
c.1754+7A>G (n.1754+7A>G)
c.2420+7A>G (n.2420+7A>G)
c.2450+7A>G (n.2450+7A>G)
gnomAD v4
5g.38955589A>GCA2673646995RICTORc.2609+6T>C (n.2609+6T>C)
c.569+6T>C (n.569+6T>C)
c.2561+6T>C (n.2561+6T>C)
n.569+6T>C
c.*1833+6T>C (n.*1833+6T>C)
c.1754+6T>C (n.1754+6T>C)
c.2420+6T>C (n.2420+6T>C)
c.2450+6T>C (n.2450+6T>C)
gnomAD v4
5g.38955589A>TCA2673646994RICTORc.2609+6T>A (n.2609+6T>A)
c.569+6T>A (n.569+6T>A)
c.2561+6T>A (n.2561+6T>A)
n.569+6T>A
c.*1833+6T>A (n.*1833+6T>A)
c.1754+6T>A (n.1754+6T>A)
c.2420+6T>A (n.2420+6T>A)
c.2450+6T>A (n.2450+6T>A)
gnomAD v4
5g.38955589_38955592delinsACGCCA1540476072RICTORc.2609+3_2609+6delinsGCGT (n.2609+3_2609+6delinsGCGT)
c.569+3_569+6delinsGCGT (n.569+3_569+6delinsGCGT)
c.2561+3_2561+6delinsGCGT (n.2561+3_2561+6delinsGCGT)
n.569+3_569+6delinsGCGT
c.*1833+3_*1833+6delinsGCGT (n.*1833+3_*1833+6delinsGCGT)
c.1754+3_1754+6delinsGCGT (n.1754+3_1754+6delinsGCGT)
c.2420+3_2420+6delinsGCGT (n.2420+3_2420+6delinsGCGT)
c.2450+3_2450+6delinsGCGT (n.2450+3_2450+6delinsGCGT)
5g.38955590C=CA1540476073RICTORc.2609+5G= (n.2609+5G=)
c.569+5G= (n.569+5G=)
c.2561+5G= (n.2561+5G=)
n.569+5G=
c.*1833+5G= (n.*1833+5G=)
c.1754+5G= (n.1754+5G=)
c.2420+5G= (n.2420+5G=)
c.2450+5G= (n.2450+5G=)
5g.38955590C>TCA3245087RICTORc.2609+5G>A (n.2609+5G>A)
c.569+5G>A (n.569+5G>A)
c.2561+5G>A (n.2561+5G>A)
n.569+5G>A
c.*1833+5G>A (n.*1833+5G>A)
c.1754+5G>A (n.1754+5G>A)
c.2420+5G>A (n.2420+5G>A)
c.2450+5G>A (n.2450+5G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.38955590_38955592delCA3245086RICTORc.2609+3_2609+5del (n.2609+3_2609+5del)
c.569+3_569+5del (n.569+3_569+5del)
c.2561+3_2561+5del (n.2561+3_2561+5del)
n.569+3_569+5del
c.*1833+3_*1833+5del (n.*1833+3_*1833+5del)
c.1754+3_1754+5del (n.1754+3_1754+5del)
c.2420+3_2420+5del (n.2420+3_2420+5del)
c.2450+3_2450+5del (n.2450+3_2450+5del)
dbSNP ExAC gnomAD v2
5g.38955591G>ACA3245088RICTORc.2609+4C>T (n.2609+4C>T)
c.569+4C>T (n.569+4C>T)
c.2561+4C>T (n.2561+4C>T)
n.569+4C>T
c.*1833+4C>T (n.*1833+4C>T)
c.1754+4C>T (n.1754+4C>T)
c.2420+4C>T (n.2420+4C>T)
c.2450+4C>T (n.2450+4C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.38955591G=CA1540476074RICTORc.2609+4C= (n.2609+4C=)
c.569+4C= (n.569+4C=)
c.2561+4C= (n.2561+4C=)
n.569+4C=
c.*1833+4C= (n.*1833+4C=)
c.1754+4C= (n.1754+4C=)
c.2420+4C= (n.2420+4C=)
c.2450+4C= (n.2450+4C=)
5g.38955591G>TCA2673647000RICTORc.2609+4C>A (n.2609+4C>A)
c.569+4C>A (n.569+4C>A)
c.2561+4C>A (n.2561+4C>A)
n.569+4C>A
c.*1833+4C>A (n.*1833+4C>A)
c.1754+4C>A (n.1754+4C>A)
c.2420+4C>A (n.2420+4C>A)
c.2450+4C>A (n.2450+4C>A)
gnomAD v4
5g.38955592C>ACA3245089RICTORc.2609+3G>T (n.2609+3G>T)
c.569+3G>T (n.569+3G>T)
c.2561+3G>T (n.2561+3G>T)
n.569+3G>T
c.*1833+3G>T (n.*1833+3G>T)
c.1754+3G>T (n.1754+3G>T)
c.2420+3G>T (n.2420+3G>T)
c.2450+3G>T (n.2450+3G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.38955592C=CA1540476075RICTORc.2609+3G= (n.2609+3G=)
c.569+3G= (n.569+3G=)
c.2561+3G= (n.2561+3G=)
n.569+3G=
c.*1833+3G= (n.*1833+3G=)
c.1754+3G= (n.1754+3G=)
c.2420+3G= (n.2420+3G=)
c.2450+3G= (n.2450+3G=)
5g.38955592C>TCA559054410RICTORc.2609+3G>A (n.2609+3G>A)
c.569+3G>A (n.569+3G>A)
c.2561+3G>A (n.2561+3G>A)
n.569+3G>A
c.*1833+3G>A (n.*1833+3G>A)
c.1754+3G>A (n.1754+3G>A)
c.2420+3G>A (n.2420+3G>A)
c.2450+3G>A (n.2450+3G>A)
dbSNP gnomAD v2 gnomAD v4
5g.38955593A=CA1540476076RICTORc.2609+2T= (n.2609+2T=)
c.569+2T= (n.569+2T=)
c.2561+2T= (n.2561+2T=)
n.569+2T=
c.*1833+2T= (n.*1833+2T=)
c.1754+2T= (n.1754+2T=)
c.2420+2T= (n.2420+2T=)
c.2450+2T= (n.2450+2T=)
5g.38955593A>CCA117169850RICTORc.2609+2T>G (n.2609+2T>G)
c.569+2T>G (n.569+2T>G)
c.2561+2T>G (n.2561+2T>G)
n.569+2T>G
c.*1833+2T>G (n.*1833+2T>G)
c.1754+2T>G (n.1754+2T>G)
c.2420+2T>G (n.2420+2T>G)
c.2450+2T>G (n.2450+2T>G)
dbSNP
5g.38955593A>GCA359563296RICTORc.2609+2T>C (n.2609+2T>C)
c.569+2T>C (n.569+2T>C)
c.2561+2T>C (n.2561+2T>C)
n.569+2T>C
c.*1833+2T>C (n.*1833+2T>C)
c.1754+2T>C (n.1754+2T>C)
c.2420+2T>C (n.2420+2T>C)
c.2450+2T>C (n.2450+2T>C)
gnomAD v4
5g.38955593A>TCA359563298RICTORc.2609+2T>A (n.2609+2T>A)
c.569+2T>A (n.569+2T>A)
c.2561+2T>A (n.2561+2T>A)
n.569+2T>A
c.*1833+2T>A (n.*1833+2T>A)
c.1754+2T>A (n.1754+2T>A)
c.2420+2T>A (n.2420+2T>A)
c.2450+2T>A (n.2450+2T>A)
5g.38955594C>ACA359563301RICTORc.2609+1G>T (n.2609+1G>T)
c.569+1G>T (n.569+1G>T)
c.2561+1G>T (n.2561+1G>T)
n.569+1G>T
c.*1833+1G>T (n.*1833+1G>T)
c.1754+1G>T (n.1754+1G>T)
c.2420+1G>T (n.2420+1G>T)
c.2450+1G>T (n.2450+1G>T)
5g.38955594C>GCA359563303RICTORc.2609+1G>C (n.2609+1G>C)
c.569+1G>C (n.569+1G>C)
c.2561+1G>C (n.2561+1G>C)
n.569+1G>C
c.*1833+1G>C (n.*1833+1G>C)
c.1754+1G>C (n.1754+1G>C)
c.2420+1G>C (n.2420+1G>C)
c.2450+1G>C (n.2450+1G>C)
5g.38955594C>TCA359563305RICTORc.2609+1G>A (n.2609+1G>A)
c.569+1G>A (n.569+1G>A)
c.2561+1G>A (n.2561+1G>A)
n.569+1G>A
c.*1833+1G>A (n.*1833+1G>A)
c.1754+1G>A (n.1754+1G>A)
c.2420+1G>A (n.2420+1G>A)
c.2450+1G>A (n.2450+1G>A)
gnomAD v4
5g.38955595C>ACA359563309RICTORc.2609G>T (p.Arg870Ile)
c.569G>T (p.Ser190Ile)
c.2561G>T (p.Arg854Ile)
n.569G>T
c.*1833G>T (n.*1833G>T)
c.1754G>T (p.Arg585Ile)
c.2420G>T (p.Arg807Ile)
c.2450G>T (p.Arg817Ile)
5g.38955595C>GCA359563310RICTORc.2609G>C (p.Arg870Thr)
c.569G>C (p.Ser190Thr)
c.2561G>C (p.Arg854Thr)
n.569G>C
c.*1833G>C (n.*1833G>C)
c.1754G>C (p.Arg585Thr)
c.2420G>C (p.Arg807Thr)
c.2450G>C (p.Arg817Thr)
5g.38955595C>TCA359563312RICTORc.2609G>A (p.Arg870Lys)
c.569G>A (p.Ser190Asn)
c.2561G>A (p.Arg854Lys)
n.569G>A
c.*1833G>A (n.*1833G>A)
c.1754G>A (p.Arg585Lys)
c.2420G>A (p.Arg807Lys)
c.2450G>A (p.Arg817Lys)
dbSNP
5g.38955596T>ACA359563315RICTORc.2608A>T (p.Arg870Ter)
c.568A>T (p.Ser190Cys)
c.2560A>T (p.Arg854Ter)
n.568A>T
c.*1832A>T (n.*1832A>T)
c.1753A>T (p.Arg585Ter)
c.2419A>T (p.Arg807Ter)
c.2449A>T (p.Arg817Ter)
5g.38955596T>CCA359563317RICTORc.2608A>G (p.Arg870Gly)
c.568A>G (p.Ser190Gly)
c.2560A>G (p.Arg854Gly)
n.568A>G
c.*1832A>G (n.*1832A>G)
c.1753A>G (p.Arg585Gly)
c.2419A>G (p.Arg807Gly)
c.2449A>G (p.Arg817Gly)
gnomAD v4
5g.38955596T>GCA443950925RICTORc.2608A>C (p.Arg870=)
c.568A>C (p.Ser190Arg)
c.2560A>C (p.Arg854=)
n.568A>C
c.*1832A>C (n.*1832A>C)
c.1753A>C (p.Arg585=)
c.2419A>C (p.Arg807=)
c.2449A>C (p.Arg817=)
5g.38955598delCA2673647013RICTORc.2608del (p.Arg870AspfsTer17)
c.568del (p.Ser190AlafsTer5)
c.2560del (p.Arg854AspfsTer17)
n.568del
c.*1832del (n.*1832del)
c.1753del (p.Arg585AspfsTer17)
c.2419del (p.Arg807AspfsTer17)
c.2449del (p.Arg817AspfsTer17)
gnomAD v4
5g.38955597T>ACA359563320RICTORc.2607A>T (p.Gln869His)
c.567A>T (p.Gln189His)
c.2559A>T (p.Gln853His)
n.567A>T
c.*1831A>T (n.*1831A>T)
c.1752A>T (p.Gln584His)
c.2418A>T (p.Gln806His)
c.2448A>T (p.Gln816His)
5g.38955597T>CCA443950926RICTORc.2607A>G (p.Gln869=)
c.567A>G (p.Gln189=)
c.2559A>G (p.Gln853=)
n.567A>G
c.*1831A>G (n.*1831A>G)
c.1752A>G (p.Gln584=)
c.2418A>G (p.Gln806=)
c.2448A>G (p.Gln816=)
gnomAD v4
5g.38955597T>GCA359563322RICTORc.2607A>C (p.Gln869His)
c.567A>C (p.Gln189His)
c.2559A>C (p.Gln853His)
n.567A>C
c.*1831A>C (n.*1831A>C)
c.1752A>C (p.Gln584His)
c.2418A>C (p.Gln806His)
c.2448A>C (p.Gln816His)
5g.38955598T>ACA359563325RICTORc.2606A>T (p.Gln869Leu)
c.566A>T (p.Gln189Leu)
c.2558A>T (p.Gln853Leu)
n.566A>T
c.*1830A>T (n.*1830A>T)
c.1751A>T (p.Gln584Leu)
c.2417A>T (p.Gln806Leu)
c.2447A>T (p.Gln816Leu)
5g.38955598T>CCA359563327RICTORc.2606A>G (p.Gln869Arg)
c.566A>G (p.Gln189Arg)
c.2558A>G (p.Gln853Arg)
n.566A>G
c.*1830A>G (n.*1830A>G)
c.1751A>G (p.Gln584Arg)
c.2417A>G (p.Gln806Arg)
c.2447A>G (p.Gln816Arg)
gnomAD v4
5g.38955598T>GCA359563329RICTORc.2606A>C (p.Gln869Pro)
c.566A>C (p.Gln189Pro)
c.2558A>C (p.Gln853Pro)
n.566A>C
c.*1830A>C (n.*1830A>C)
c.1751A>C (p.Gln584Pro)
c.2417A>C (p.Gln806Pro)
c.2447A>C (p.Gln816Pro)
5g.38955599G>ACA359563333RICTORc.2605C>T (p.Gln869Ter)
c.565C>T (p.Gln189Ter)
c.2557C>T (p.Gln853Ter)
n.565C>T
c.*1829C>T (n.*1829C>T)
c.1750C>T (p.Gln584Ter)
c.2416C>T (p.Gln806Ter)
c.2446C>T (p.Gln816Ter)
5g.38955599G>CCA359563335RICTORc.2605C>G (p.Gln869Glu)
c.565C>G (p.Gln189Glu)
c.2557C>G (p.Gln853Glu)
n.565C>G
c.*1829C>G (n.*1829C>G)
c.1750C>G (p.Gln584Glu)
c.2416C>G (p.Gln806Glu)
c.2446C>G (p.Gln816Glu)
5g.38955599G>TCA359563337RICTORc.2605C>A (p.Gln869Lys)
c.565C>A (p.Gln189Lys)
c.2557C>A (p.Gln853Lys)
n.565C>A
c.*1829C>A (n.*1829C>A)
c.1750C>A (p.Gln584Lys)
c.2416C>A (p.Gln806Lys)
c.2446C>A (p.Gln816Lys)
gnomAD v4
5g.38955600G>ACA3245090RICTORc.2604C>T (p.Asn868=)
c.564C>T (p.Asn188=)
c.2556C>T (p.Asn852=)
n.564C>T
c.*1828C>T (n.*1828C>T)
c.1749C>T (p.Asn583=)
c.2415C>T (p.Asn805=)
c.2445C>T (p.Asn815=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.38955600G>CCA359563341RICTORc.2604C>G (p.Asn868Lys)
c.564C>G (p.Asn188Lys)
c.2556C>G (p.Asn852Lys)
n.564C>G
c.*1828C>G (n.*1828C>G)
c.1749C>G (p.Asn583Lys)
c.2415C>G (p.Asn805Lys)
c.2445C>G (p.Asn815Lys)
5g.38955600G=CA1540476077RICTORc.2604C= (p.Asn868=)
c.564C= (p.Asn188=)
c.2556C= (p.Asn852=)
n.564C=
c.*1828C= (n.*1828C=)
c.1749C= (p.Asn583=)
c.2415C= (p.Asn805=)
c.2445C= (p.Asn815=)
5g.38955600G>TCA359563342RICTORc.2604C>A (p.Asn868Lys)
c.564C>A (p.Asn188Lys)
c.2556C>A (p.Asn852Lys)
n.564C>A
c.*1828C>A (n.*1828C>A)
c.1749C>A (p.Asn583Lys)
c.2415C>A (p.Asn805Lys)
c.2445C>A (p.Asn815Lys)
gnomAD v4
5g.38955601T>ACA359563346RICTORc.2603A>T (p.Asn868Ile)
c.563A>T (p.Asn188Ile)
c.2555A>T (p.Asn852Ile)
n.563A>T
c.*1827A>T (n.*1827A>T)
c.1748A>T (p.Asn583Ile)
c.2414A>T (p.Asn805Ile)
c.2444A>T (p.Asn815Ile)
5g.38955601T>CCA359563349RICTORc.2603A>G (p.Asn868Ser)
c.563A>G (p.Asn188Ser)
c.2555A>G (p.Asn852Ser)
n.563A>G
c.*1827A>G (n.*1827A>G)
c.1748A>G (p.Asn583Ser)
c.2414A>G (p.Asn805Ser)
c.2444A>G (p.Asn815Ser)
gnomAD v4
5g.38955601T>GCA359563351RICTORc.2603A>C (p.Asn868Thr)
c.563A>C (p.Asn188Thr)
c.2555A>C (p.Asn852Thr)
n.563A>C
c.*1827A>C (n.*1827A>C)
c.1748A>C (p.Asn583Thr)
c.2414A>C (p.Asn805Thr)
c.2444A>C (p.Asn815Thr)
5g.38955602T>ACA359563354RICTORc.2602A>T (p.Asn868Tyr)
c.562A>T (p.Asn188Tyr)
c.2554A>T (p.Asn852Tyr)
n.562A>T
c.*1826A>T (n.*1826A>T)
c.1747A>T (p.Asn583Tyr)
c.2413A>T (p.Asn805Tyr)
c.2443A>T (p.Asn815Tyr)
5g.38955602T>CCA359563358RICTORc.2602A>G (p.Asn868Asp)
c.562A>G (p.Asn188Asp)
c.2554A>G (p.Asn852Asp)
n.562A>G
c.*1826A>G (n.*1826A>G)
c.1747A>G (p.Asn583Asp)
c.2413A>G (p.Asn805Asp)
c.2443A>G (p.Asn815Asp)
gnomAD v4
5g.38955602T>GCA359563356RICTORc.2602A>C (p.Asn868His)
c.562A>C (p.Asn188His)
c.2554A>C (p.Asn852His)
n.562A>C
c.*1826A>C (n.*1826A>C)
c.1747A>C (p.Asn583His)
c.2413A>C (p.Asn805His)
c.2443A>C (p.Asn815His)
5g.38955603A>CCA359563361RICTORc.2601T>G (p.Ser867Arg)
c.561T>G (p.Ser187Arg)
c.2553T>G (p.Ser851Arg)
n.561T>G
c.*1825T>G (n.*1825T>G)
c.1746T>G (p.Ser582Arg)
c.2412T>G (p.Ser804Arg)
c.2442T>G (p.Ser814Arg)
5g.38955603A>GCA443950927RICTORc.2601T>C (p.Ser867=)
c.561T>C (p.Ser187=)
c.2553T>C (p.Ser851=)
n.561T>C
c.*1825T>C (n.*1825T>C)
c.1746T>C (p.Ser582=)
c.2412T>C (p.Ser804=)
c.2442T>C (p.Ser814=)
5g.38955603A>TCA359563363RICTORc.2601T>A (p.Ser867Arg)
c.561T>A (p.Ser187Arg)
c.2553T>A (p.Ser851Arg)
n.561T>A
c.*1825T>A (n.*1825T>A)
c.1746T>A (p.Ser582Arg)
c.2412T>A (p.Ser804Arg)
c.2442T>A (p.Ser814Arg)
5g.38955604C>ACA359563366RICTORc.2600G>T (p.Ser867Ile)
c.560G>T (p.Ser187Ile)
c.2552G>T (p.Ser851Ile)
n.560G>T
c.*1824G>T (n.*1824G>T)
c.1745G>T (p.Ser582Ile)
c.2411G>T (p.Ser804Ile)
c.2441G>T (p.Ser814Ile)
5g.38955604C>GCA359563368RICTORc.2600G>C (p.Ser867Thr)
c.560G>C (p.Ser187Thr)
c.2552G>C (p.Ser851Thr)
n.560G>C
c.*1824G>C (n.*1824G>C)
c.1745G>C (p.Ser582Thr)
c.2411G>C (p.Ser804Thr)
c.2441G>C (p.Ser814Thr)
5g.38955604C>TCA359563370RICTORc.2600G>A (p.Ser867Asn)
c.560G>A (p.Ser187Asn)
c.2552G>A (p.Ser851Asn)
n.560G>A
c.*1824G>A (n.*1824G>A)
c.1745G>A (p.Ser582Asn)
c.2411G>A (p.Ser804Asn)
c.2441G>A (p.Ser814Asn)
gnomAD v4
5g.38955605T>ACA359563373RICTORc.2599A>T (p.Ser867Cys)
c.559A>T (p.Ser187Cys)
c.2551A>T (p.Ser851Cys)
n.559A>T
c.*1823A>T (n.*1823A>T)
c.1744A>T (p.Ser582Cys)
c.2410A>T (p.Ser804Cys)
c.2440A>T (p.Ser814Cys)
gnomAD v4
5g.38955605T>CCA3245091RICTORc.2599A>G (p.Ser867Gly)
c.559A>G (p.Ser187Gly)
c.2551A>G (p.Ser851Gly)
n.559A>G
c.*1823A>G (n.*1823A>G)
c.1744A>G (p.Ser582Gly)
c.2410A>G (p.Ser804Gly)
c.2440A>G (p.Ser814Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.38955605T>GCA359563376RICTORc.2599A>C (p.Ser867Arg)
c.559A>C (p.Ser187Arg)
c.2551A>C (p.Ser851Arg)
n.559A>C
c.*1823A>C (n.*1823A>C)
c.1744A>C (p.Ser582Arg)
c.2410A>C (p.Ser804Arg)
c.2440A>C (p.Ser814Arg)
5g.38955605T=CA1540476078RICTORc.2599A= (p.Ser867=)
c.559A= (p.Ser187=)
c.2551A= (p.Ser851=)
n.559A=
c.*1823A= (n.*1823A=)
c.1744A= (p.Ser582=)
c.2410A= (p.Ser804=)
c.2440A= (p.Ser814=)
5g.38955606C>ACA443950928RICTORc.2598G>T (p.Arg866=)
c.558G>T (p.Arg186=)
c.2550G>T (p.Arg850=)
n.558G>T
c.*1822G>T (n.*1822G>T)
c.1743G>T (p.Arg581=)
c.2409G>T (p.Arg803=)
c.2439G>T (p.Arg813=)
gnomAD v4
5g.38955606C=CA1540476079RICTORc.2598G= (p.Arg866=)
c.558G= (p.Arg186=)
c.2550G= (p.Arg850=)
n.558G=
c.*1822G= (n.*1822G=)
c.1743G= (p.Arg581=)
c.2409G= (p.Arg803=)
c.2439G= (p.Arg813=)
5g.38955606C>GCA443950930RICTORc.2598G>C (p.Arg866=)
c.558G>C (p.Arg186=)
c.2550G>C (p.Arg850=)
n.558G>C
c.*1822G>C (n.*1822G>C)
c.1743G>C (p.Arg581=)
c.2409G>C (p.Arg803=)
c.2439G>C (p.Arg813=)
5g.38955606C>TCA443950929RICTORc.2598G>A (p.Arg866=)
c.558G>A (p.Arg186=)
c.2550G>A (p.Arg850=)
n.558G>A
c.*1822G>A (n.*1822G>A)
c.1743G>A (p.Arg581=)
c.2409G>A (p.Arg803=)
c.2439G>A (p.Arg813=)
dbSNP gnomAD v2 gnomAD v4
5g.38955607C>ACA359563377RICTORc.2597G>T (p.Arg866Leu)
c.557G>T (p.Arg186Leu)
c.2549G>T (p.Arg850Leu)
n.557G>T
c.*1821G>T (n.*1821G>T)
c.1742G>T (p.Arg581Leu)
c.2408G>T (p.Arg803Leu)
c.2438G>T (p.Arg813Leu)
5g.38955607C=CA1540476080RICTORc.2597G= (p.Arg866=)
c.557G= (p.Arg186=)
c.2549G= (p.Arg850=)
n.557G=
c.*1821G= (n.*1821G=)
c.1742G= (p.Arg581=)
c.2408G= (p.Arg803=)
c.2438G= (p.Arg813=)
5g.38955607C>GCA359563380RICTORc.2597G>C (p.Arg866Pro)
c.557G>C (p.Arg186Pro)
c.2549G>C (p.Arg850Pro)
n.557G>C
c.*1821G>C (n.*1821G>C)
c.1742G>C (p.Arg581Pro)
c.2408G>C (p.Arg803Pro)
c.2438G>C (p.Arg813Pro)
5g.38955607C>TCA3245092RICTORc.2597G>A (p.Arg866Gln)
c.557G>A (p.Arg186Gln)
c.2549G>A (p.Arg850Gln)
n.557G>A
c.*1821G>A (n.*1821G>A)
c.1742G>A (p.Arg581Gln)
c.2408G>A (p.Arg803Gln)
c.2438G>A (p.Arg813Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.38955608G>ACA3245093RICTORc.2596C>T (p.Arg866Trp)
c.556C>T (p.Arg186Trp)
c.2548C>T (p.Arg850Trp)
n.556C>T
c.*1820C>T (n.*1820C>T)
c.1741C>T (p.Arg581Trp)
c.2407C>T (p.Arg803Trp)
c.2437C>T (p.Arg813Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.38955608G>CCA359563385RICTORc.2596C>G (p.Arg866Gly)
c.556C>G (p.Arg186Gly)
c.2548C>G (p.Arg850Gly)
n.556C>G
c.*1820C>G (n.*1820C>G)
c.1741C>G (p.Arg581Gly)
c.2407C>G (p.Arg803Gly)
c.2437C>G (p.Arg813Gly)
5g.38955608G=CA1540476081RICTORc.2596C= (p.Arg866=)
c.556C= (p.Arg186=)
c.2548C= (p.Arg850=)
n.556C=
c.*1820C= (n.*1820C=)
c.1741C= (p.Arg581=)
c.2407C= (p.Arg803=)
c.2437C= (p.Arg813=)
5g.38955608G>TCA443950931RICTORc.2596C>A (p.Arg866=)
c.556C>A (p.Arg186=)
c.2548C>A (p.Arg850=)
n.556C>A
c.*1820C>A (n.*1820C>A)
c.1741C>A (p.Arg581=)
c.2407C>A (p.Arg803=)
c.2437C>A (p.Arg813=)
gnomAD v4
5g.38955609A>CCA443950932RICTORc.2595T>G (p.Arg865=)
c.555T>G (p.Arg185=)
c.2547T>G (p.Arg849=)
n.555T>G
c.*1819T>G (n.*1819T>G)
c.1740T>G (p.Arg580=)
c.2406T>G (p.Arg802=)
c.2436T>G (p.Arg812=)
5g.38955609A>GCA443950933RICTORc.2595T>C (p.Arg865=)
c.555T>C (p.Arg185=)
c.2547T>C (p.Arg849=)
n.555T>C
c.*1819T>C (n.*1819T>C)
c.1740T>C (p.Arg580=)
c.2406T>C (p.Arg802=)
c.2436T>C (p.Arg812=)
5g.38955609A>TCA443950934RICTORc.2595T>A (p.Arg865=)
c.555T>A (p.Arg185=)
c.2547T>A (p.Arg849=)
n.555T>A
c.*1819T>A (n.*1819T>A)
c.1740T>A (p.Arg580=)
c.2406T>A (p.Arg802=)
c.2436T>A (p.Arg812=)
5g.38955610C>ACA359563393RICTORc.2594G>T (p.Arg865Leu)
c.554G>T (p.Arg185Leu)
c.2546G>T (p.Arg849Leu)
n.554G>T
c.*1818G>T (n.*1818G>T)
c.1739G>T (p.Arg580Leu)
c.2405G>T (p.Arg802Leu)
c.2435G>T (p.Arg812Leu)
5g.38955610C=CA1540476082RICTORc.2594G= (p.Arg865=)
c.554G= (p.Arg185=)
c.2546G= (p.Arg849=)
n.554G=
c.*1818G= (n.*1818G=)
c.1739G= (p.Arg580=)
c.2405G= (p.Arg802=)
c.2435G= (p.Arg812=)
5g.38955610C>GCA359563391RICTORc.2594G>C (p.Arg865Pro)
c.554G>C (p.Arg185Pro)
c.2546G>C (p.Arg849Pro)
n.554G>C
c.*1818G>C (n.*1818G>C)
c.1739G>C (p.Arg580Pro)
c.2405G>C (p.Arg802Pro)
c.2435G>C (p.Arg812Pro)
dbSNP gnomAD v2 gnomAD v4
5g.38955610C>TCA359563388RICTORc.2594G>A (p.Arg865His)
c.554G>A (p.Arg185His)
c.2546G>A (p.Arg849His)
n.554G>A
c.*1818G>A (n.*1818G>A)
c.1739G>A (p.Arg580His)
c.2405G>A (p.Arg802His)
c.2435G>A (p.Arg812His)
dbSNP gnomAD v4
5g.38955611G>ACA359563395RICTORc.2593C>T (p.Arg865Cys)
c.553C>T (p.Arg185Cys)
c.2545C>T (p.Arg849Cys)
n.553C>T
c.*1817C>T (n.*1817C>T)
c.1738C>T (p.Arg580Cys)
c.2404C>T (p.Arg802Cys)
c.2434C>T (p.Arg812Cys)
dbSNP gnomAD v4 COSMIC COSMIC
5g.38955611G>CCA359563398RICTORc.2593C>G (p.Arg865Gly)
c.553C>G (p.Arg185Gly)
c.2545C>G (p.Arg849Gly)
n.553C>G
c.*1817C>G (n.*1817C>G)
c.1738C>G (p.Arg580Gly)
c.2404C>G (p.Arg802Gly)
c.2434C>G (p.Arg812Gly)
5g.38955611G=CA1540476083RICTORc.2593C= (p.Arg865=)
c.553C= (p.Arg185=)
c.2545C= (p.Arg849=)
n.553C=
c.*1817C= (n.*1817C=)
c.1738C= (p.Arg580=)
c.2404C= (p.Arg802=)
c.2434C= (p.Arg812=)
5g.38955611G>TCA359563400RICTORc.2593C>A (p.Arg865Ser)
c.553C>A (p.Arg185Ser)
c.2545C>A (p.Arg849Ser)
n.553C>A
c.*1817C>A (n.*1817C>A)
c.1738C>A (p.Arg580Ser)
c.2404C>A (p.Arg802Ser)
c.2434C>A (p.Arg812Ser)
gnomAD v4
5g.38955612A>CCA443950935RICTORc.2592T>G (p.Val864=)
c.552T>G (p.Val184=)
c.2544T>G (p.Val848=)
n.552T>G
c.*1816T>G (n.*1816T>G)
c.1737T>G (p.Val579=)
c.2403T>G (p.Val801=)
c.2433T>G (p.Val811=)
5g.38955612A>GCA443950936RICTORc.2592T>C (p.Val864=)
c.552T>C (p.Val184=)
c.2544T>C (p.Val848=)
n.552T>C
c.*1816T>C (n.*1816T>C)
c.1737T>C (p.Val579=)
c.2403T>C (p.Val801=)
c.2433T>C (p.Val811=)
5g.38955612A>TCA443950937RICTORc.2592T>A (p.Val864=)
c.552T>A (p.Val184=)
c.2544T>A (p.Val848=)
n.552T>A
c.*1816T>A (n.*1816T>A)
c.1737T>A (p.Val579=)
c.2403T>A (p.Val801=)
c.2433T>A (p.Val811=)
5g.38955613A=CA1540476084RICTORc.2591T= (p.Val864=)
c.551T= (p.Val184=)
c.2543T= (p.Val848=)
n.551T=
c.*1815T= (n.*1815T=)
c.1736T= (p.Val579=)
c.2402T= (p.Val801=)
c.2432T= (p.Val811=)
5g.38955613A>CCA359563402RICTORc.2591T>G (p.Val864Gly)
c.551T>G (p.Val184Gly)
c.2543T>G (p.Val848Gly)
n.551T>G
c.*1815T>G (n.*1815T>G)
c.1736T>G (p.Val579Gly)
c.2402T>G (p.Val801Gly)
c.2432T>G (p.Val811Gly)
5g.38955613A>GCA359563404RICTORc.2591T>C (p.Val864Ala)
c.551T>C (p.Val184Ala)
c.2543T>C (p.Val848Ala)
n.551T>C
c.*1815T>C (n.*1815T>C)
c.1736T>C (p.Val579Ala)
c.2402T>C (p.Val801Ala)
c.2432T>C (p.Val811Ala)
5g.38955613A>TCA359563406RICTORc.2591T>A (p.Val864Asp)
c.551T>A (p.Val184Asp)
c.2543T>A (p.Val848Asp)
n.551T>A
c.*1815T>A (n.*1815T>A)
c.1736T>A (p.Val579Asp)
c.2402T>A (p.Val801Asp)
c.2432T>A (p.Val811Asp)
5g.38955614C>ACA359563411RICTORc.2590G>T (p.Val864Phe)
c.550G>T (p.Val184Phe)
c.2542G>T (p.Val848Phe)
n.550G>T
c.*1814G>T (n.*1814G>T)
c.1735G>T (p.Val579Phe)
c.2401G>T (p.Val801Phe)
c.2431G>T (p.Val811Phe)
5g.38955614C>GCA359563413RICTORc.2590G>C (p.Val864Leu)
c.550G>C (p.Val184Leu)
c.2542G>C (p.Val848Leu)
n.550G>C
c.*1814G>C (n.*1814G>C)
c.1735G>C (p.Val579Leu)
c.2401G>C (p.Val801Leu)
c.2431G>C (p.Val811Leu)
5g.38955614C>TCA359563415RICTORc.2590G>A (p.Val864Ile)
c.550G>A (p.Val184Ile)
c.2542G>A (p.Val848Ile)
n.550G>A
c.*1814G>A (n.*1814G>A)
c.1735G>A (p.Val579Ile)
c.2401G>A (p.Val801Ile)
c.2431G>A (p.Val811Ile)
5g.38955622_38955623insAACCATAGTTATCA3245094RICTORc.2590_2591insGTTATAACTATG (p.Tyr863_Val864insGlyTyrAsnTyr)
c.550_551insGTTATAACTATG (p.Tyr183_Val184insGlyTyrAsnTyr)
c.2542_2543insGTTATAACTATG (p.Tyr847_Val848insGlyTyrAsnTyr)
n.550_551insGTTATAACTATG
c.*1814_*1815insGTTATAACTATG (n.*1814_*1815insGTTATAACTATG)
c.1735_1736insGTTATAACTATG (p.Tyr578_Val579insGlyTyrAsnTyr)
c.2401_2402insGTTATAACTATG (p.Tyr800_Val801insGlyTyrAsnTyr)
c.2431_2432insGTTATAACTATG (p.Tyr810_Val811insGlyTyrAsnTyr)
dbSNP ExAC
5g.38955615A=CA1540476085RICTORc.2589T= (p.Tyr863=)
c.549T= (p.Tyr183=)
c.2541T= (p.Tyr847=)
n.549T=
c.*1813T= (n.*1813T=)
c.1734T= (p.Tyr578=)
c.2400T= (p.Tyr800=)
c.2430T= (p.Tyr810=)
5g.38955615A>CCA359563419RICTORc.2589T>G (p.Tyr863Ter)
c.549T>G (p.Tyr183Ter)
c.2541T>G (p.Tyr847Ter)
n.549T>G
c.*1813T>G (n.*1813T>G)
c.1734T>G (p.Tyr578Ter)
c.2400T>G (p.Tyr800Ter)
c.2430T>G (p.Tyr810Ter)
5g.38955615A>GCA443950938RICTORc.2589T>C (p.Tyr863=)
c.549T>C (p.Tyr183=)
c.2541T>C (p.Tyr847=)
n.549T>C
c.*1813T>C (n.*1813T>C)
c.1734T>C (p.Tyr578=)
c.2400T>C (p.Tyr800=)
c.2430T>C (p.Tyr810=)
dbSNP gnomAD v3 gnomAD v4
5g.38955615A>TCA359563421RICTORc.2589T>A (p.Tyr863Ter)
c.549T>A (p.Tyr183Ter)
c.2541T>A (p.Tyr847Ter)
n.549T>A
c.*1813T>A (n.*1813T>A)
c.1734T>A (p.Tyr578Ter)
c.2400T>A (p.Tyr800Ter)
c.2430T>A (p.Tyr810Ter)
5g.38955616T>ACA359563427RICTORc.2588A>T (p.Tyr863Phe)
c.548A>T (p.Tyr183Phe)
c.2540A>T (p.Tyr847Phe)
n.548A>T
c.*1812A>T (n.*1812A>T)
c.1733A>T (p.Tyr578Phe)
c.2399A>T (p.Tyr800Phe)
c.2429A>T (p.Tyr810Phe)
5g.38955616T>CCA3245095RICTORc.2588A>G (p.Tyr863Cys)
c.548A>G (p.Tyr183Cys)
c.2540A>G (p.Tyr847Cys)
n.548A>G
c.*1812A>G (n.*1812A>G)
c.1733A>G (p.Tyr578Cys)
c.2399A>G (p.Tyr800Cys)
c.2429A>G (p.Tyr810Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.38955616T>GCA359563424RICTORc.2588A>C (p.Tyr863Ser)
c.548A>C (p.Tyr183Ser)
c.2540A>C (p.Tyr847Ser)
n.548A>C
c.*1812A>C (n.*1812A>C)
c.1733A>C (p.Tyr578Ser)
c.2399A>C (p.Tyr800Ser)
c.2429A>C (p.Tyr810Ser)
5g.38955616T=CA1540476086RICTORc.2588A= (p.Tyr863=)
c.548A= (p.Tyr183=)
c.2540A= (p.Tyr847=)
n.548A=
c.*1812A= (n.*1812A=)
c.1733A= (p.Tyr578=)
c.2399A= (p.Tyr800=)
c.2429A= (p.Tyr810=)
5g.38955617A>CCA359563430RICTORc.2587T>G (p.Tyr863Asp)
c.547T>G (p.Tyr183Asp)
c.2539T>G (p.Tyr847Asp)
n.547T>G
c.*1811T>G (n.*1811T>G)
c.1732T>G (p.Tyr578Asp)
c.2398T>G (p.Tyr800Asp)
c.2428T>G (p.Tyr810Asp)
5g.38955617A>GCA359563432RICTORc.2587T>C (p.Tyr863His)
c.547T>C (p.Tyr183His)
c.2539T>C (p.Tyr847His)
n.547T>C
c.*1811T>C (n.*1811T>C)
c.1732T>C (p.Tyr578His)
c.2398T>C (p.Tyr800His)
c.2428T>C (p.Tyr810His)
5g.38955617A>TCA359563435RICTORc.2587T>A (p.Tyr863Asn)
c.547T>A (p.Tyr183Asn)
c.2539T>A (p.Tyr847Asn)
n.547T>A
c.*1811T>A (n.*1811T>A)
c.1732T>A (p.Tyr578Asn)
c.2398T>A (p.Tyr800Asn)
c.2428T>A (p.Tyr810Asn)
dbSNP
5g.38955618G>ACA443950939RICTORc.2586C>T (p.Asn862=)
c.546C>T (p.Asn182=)
c.2538C>T (p.Asn846=)
n.546C>T
c.*1810C>T (n.*1810C>T)
c.1731C>T (p.Asn577=)
c.2397C>T (p.Asn799=)
c.2427C>T (p.Asn809=)
5g.38955618G>CCA359563437RICTORc.2586C>G (p.Asn862Lys)
c.546C>G (p.Asn182Lys)
c.2538C>G (p.Asn846Lys)
n.546C>G
c.*1810C>G (n.*1810C>G)
c.1731C>G (p.Asn577Lys)
c.2397C>G (p.Asn799Lys)
c.2427C>G (p.Asn809Lys)
5g.38955618G>TCA359563439RICTORc.2586C>A (p.Asn862Lys)
c.546C>A (p.Asn182Lys)
c.2538C>A (p.Asn846Lys)
n.546C>A
c.*1810C>A (n.*1810C>A)
c.1731C>A (p.Asn577Lys)
c.2397C>A (p.Asn799Lys)
c.2427C>A (p.Asn809Lys)
gnomAD v4
5g.38955619T>ACA359563441RICTORc.2585A>T (p.Asn862Ile)
c.545A>T (p.Asn182Ile)
c.2537A>T (p.Asn846Ile)
n.545A>T
c.*1809A>T (n.*1809A>T)
c.1730A>T (p.Asn577Ile)
c.2396A>T (p.Asn799Ile)
c.2426A>T (p.Asn809Ile)
5g.38955619T>CCA359563443RICTORc.2585A>G (p.Asn862Ser)
c.545A>G (p.Asn182Ser)
c.2537A>G (p.Asn846Ser)
n.545A>G
c.*1809A>G (n.*1809A>G)
c.1730A>G (p.Asn577Ser)
c.2396A>G (p.Asn799Ser)
c.2426A>G (p.Asn809Ser)
5g.38955619T>GCA359563446RICTORc.2585A>C (p.Asn862Thr)
c.545A>C (p.Asn182Thr)
c.2537A>C (p.Asn846Thr)
n.545A>C
c.*1809A>C (n.*1809A>C)
c.1730A>C (p.Asn577Thr)
c.2396A>C (p.Asn799Thr)
c.2426A>C (p.Asn809Thr)
5g.38955619T=CA1540476087RICTORc.2585A= (p.Asn862=)
c.545A= (p.Asn182=)
c.2537A= (p.Asn846=)
n.545A=
c.*1809A= (n.*1809A=)
c.1730A= (p.Asn577=)
c.2396A= (p.Asn799=)
c.2426A= (p.Asn809=)
5g.38955620delCA2578295772RICTORc.2585del (p.Asn862ThrfsTer25)
c.545del (p.Asn182ThrfsTer13)
c.2537del (p.Asn846ThrfsTer25)
n.545del
c.*1809del (n.*1809del)
c.1730del (p.Asn577ThrfsTer25)
c.2396del (p.Asn799ThrfsTer25)
c.2426del (p.Asn809ThrfsTer25)
5g.38955619_38955620insGCA810466071RICTORc.2584_2585insC (p.Asn862ThrfsTer7)
c.544_545insC (p.Asn182ThrfsTer7)
c.2536_2537insC (p.Asn846ThrfsTer7)
n.544_545insC
c.*1808_*1809insC (n.*1808_*1809insC)
c.1729_1730insC (p.Asn577ThrfsTer7)
c.2395_2396insC (p.Asn799ThrfsTer7)
c.2425_2426insC (p.Asn809ThrfsTer7)
dbSNP
5g.38955620T>ACA117169897RICTORc.2584A>T (p.Asn862Tyr)
c.544A>T (p.Asn182Tyr)
c.2536A>T (p.Asn846Tyr)
n.544A>T
c.*1808A>T (n.*1808A>T)
c.1729A>T (p.Asn577Tyr)
c.2395A>T (p.Asn799Tyr)
c.2425A>T (p.Asn809Tyr)
dbSNP gnomAD v2 gnomAD v4
5g.38955620T>CCA359563450RICTORc.2584A>G (p.Asn862Asp)
c.544A>G (p.Asn182Asp)
c.2536A>G (p.Asn846Asp)
n.544A>G
c.*1808A>G (n.*1808A>G)
c.1729A>G (p.Asn577Asp)
c.2395A>G (p.Asn799Asp)
c.2425A>G (p.Asn809Asp)
5g.38955620T>GCA359563452RICTORc.2584A>C (p.Asn862His)
c.544A>C (p.Asn182His)
c.2536A>C (p.Asn846His)
n.544A>C
c.*1808A>C (n.*1808A>C)
c.1729A>C (p.Asn577His)
c.2395A>C (p.Asn799His)
c.2425A>C (p.Asn809His)
5g.38955620T=CA1540476088RICTORc.2584A= (p.Asn862=)
c.544A= (p.Asn182=)
c.2536A= (p.Asn846=)
n.544A=
c.*1808A= (n.*1808A=)
c.1729A= (p.Asn577=)
c.2395A= (p.Asn799=)
c.2425A= (p.Asn809=)
5g.38955621A>CCA359563455RICTORc.2583T>G (p.Asp861Glu)
c.543T>G (p.Asp181Glu)
c.2535T>G (p.Asp845Glu)
n.543T>G
c.*1807T>G (n.*1807T>G)
c.1728T>G (p.Asp576Glu)
c.2394T>G (p.Asp798Glu)
c.2424T>G (p.Asp808Glu)
5g.38955621A>GCA443950940RICTORc.2583T>C (p.Asp861=)
c.543T>C (p.Asp181=)
c.2535T>C (p.Asp845=)
n.543T>C
c.*1807T>C (n.*1807T>C)
c.1728T>C (p.Asp576=)
c.2394T>C (p.Asp798=)
c.2424T>C (p.Asp808=)
5g.38955621A>TCA359563457RICTORc.2583T>A (p.Asp861Glu)
c.543T>A (p.Asp181Glu)
c.2535T>A (p.Asp845Glu)
n.543T>A
c.*1807T>A (n.*1807T>A)
c.1728T>A (p.Asp576Glu)
c.2394T>A (p.Asp798Glu)
c.2424T>A (p.Asp808Glu)
5g.38955622T>ACA359563464RICTORc.2582A>T (p.Asp861Val)
c.542A>T (p.Asp181Val)
c.2534A>T (p.Asp845Val)
n.542A>T
c.*1806A>T (n.*1806A>T)
c.1727A>T (p.Asp576Val)
c.2393A>T (p.Asp798Val)
c.2423A>T (p.Asp808Val)
5g.38955622T>CCA359563460RICTORc.2582A>G (p.Asp861Gly)
c.542A>G (p.Asp181Gly)
c.2534A>G (p.Asp845Gly)
n.542A>G
c.*1806A>G (n.*1806A>G)
c.1727A>G (p.Asp576Gly)
c.2393A>G (p.Asp798Gly)
c.2423A>G (p.Asp808Gly)
gnomAD v4
5g.38955622T>GCA359563462RICTORc.2582A>C (p.Asp861Ala)
c.542A>C (p.Asp181Ala)
c.2534A>C (p.Asp845Ala)
n.542A>C
c.*1806A>C (n.*1806A>C)
c.1727A>C (p.Asp576Ala)
c.2393A>C (p.Asp798Ala)
c.2423A>C (p.Asp808Ala)
5g.38955623C>ACA359563467RICTORc.2581G>T (p.Asp861Tyr)
c.541G>T (p.Asp181Tyr)
c.2533G>T (p.Asp845Tyr)
n.541G>T
c.*1805G>T (n.*1805G>T)
c.1726G>T (p.Asp576Tyr)
c.2392G>T (p.Asp798Tyr)
c.2422G>T (p.Asp808Tyr)
dbSNP
5g.38955623C>GCA359563469RICTORc.2581G>C (p.Asp861His)
c.541G>C (p.Asp181His)
c.2533G>C (p.Asp845His)
n.541G>C
c.*1805G>C (n.*1805G>C)
c.1726G>C (p.Asp576His)
c.2392G>C (p.Asp798His)
c.2422G>C (p.Asp808His)
5g.38955623C>TCA359563471RICTORc.2581G>A (p.Asp861Asn)
c.541G>A (p.Asp181Asn)
c.2533G>A (p.Asp845Asn)
n.541G>A
c.*1805G>A (n.*1805G>A)
c.1726G>A (p.Asp576Asn)
c.2392G>A (p.Asp798Asn)
c.2422G>A (p.Asp808Asn)
5g.38955624A>CCA443950941RICTORc.2580T>G (p.Gly860=)
c.540T>G (p.Gly180=)
c.2532T>G (p.Gly844=)
n.540T>G
c.*1804T>G (n.*1804T>G)
c.1725T>G (p.Gly575=)
c.2391T>G (p.Gly797=)
c.2421T>G (p.Gly807=)
5g.38955624A>GCA443950942RICTORc.2580T>C (p.Gly860=)
c.540T>C (p.Gly180=)
c.2532T>C (p.Gly844=)
n.540T>C
c.*1804T>C (n.*1804T>C)
c.1725T>C (p.Gly575=)
c.2391T>C (p.Gly797=)
c.2421T>C (p.Gly807=)
5g.38955624A>TCA443950943RICTORc.2580T>A (p.Gly860=)
c.540T>A (p.Gly180=)
c.2532T>A (p.Gly844=)
n.540T>A
c.*1804T>A (n.*1804T>A)
c.1725T>A (p.Gly575=)
c.2391T>A (p.Gly797=)
c.2421T>A (p.Gly807=)
5g.38955625C>ACA359563474RICTORc.2579G>T (p.Gly860Val)
c.539G>T (p.Gly180Val)
c.2531G>T (p.Gly844Val)
n.539G>T
c.*1803G>T (n.*1803G>T)
c.1724G>T (p.Gly575Val)
c.2390G>T (p.Gly797Val)
c.2420G>T (p.Gly807Val)
5g.38955625C>GCA359563477RICTORc.2579G>C (p.Gly860Ala)
c.539G>C (p.Gly180Ala)
c.2531G>C (p.Gly844Ala)
n.539G>C
c.*1803G>C (n.*1803G>C)
c.1724G>C (p.Gly575Ala)
c.2390G>C (p.Gly797Ala)
c.2420G>C (p.Gly807Ala)
5g.38955625C>TCA359563479RICTORc.2579G>A (p.Gly860Asp)
c.539G>A (p.Gly180Asp)
c.2531G>A (p.Gly844Asp)
n.539G>A
c.*1803G>A (n.*1803G>A)
c.1724G>A (p.Gly575Asp)
c.2390G>A (p.Gly797Asp)
c.2420G>A (p.Gly807Asp)
COSMIC COSMIC
5g.38955626C>ACA359563482RICTORc.2578G>T (p.Gly860Cys)
c.538G>T (p.Gly180Cys)
c.2530G>T (p.Gly844Cys)
n.538G>T
c.*1802G>T (n.*1802G>T)
c.1723G>T (p.Gly575Cys)
c.2389G>T (p.Gly797Cys)
c.2419G>T (p.Gly807Cys)
5g.38955626C=CA1540476089RICTORc.2578G= (p.Gly860=)
c.538G= (p.Gly180=)
c.2530G= (p.Gly844=)
n.538G=
c.*1802G= (n.*1802G=)
c.1723G= (p.Gly575=)
c.2389G= (p.Gly797=)
c.2419G= (p.Gly807=)
5g.38955626C>GCA359563484RICTORc.2578G>C (p.Gly860Arg)
c.538G>C (p.Gly180Arg)
c.2530G>C (p.Gly844Arg)
n.538G>C
c.*1802G>C (n.*1802G>C)
c.1723G>C (p.Gly575Arg)
c.2389G>C (p.Gly797Arg)
c.2419G>C (p.Gly807Arg)
5g.38955626C>TCA3245096RICTORc.2578G>A (p.Gly860Ser)
c.538G>A (p.Gly180Ser)
c.2530G>A (p.Gly844Ser)
n.538G>A
c.*1802G>A (n.*1802G>A)
c.1723G>A (p.Gly575Ser)
c.2389G>A (p.Gly797Ser)
c.2419G>A (p.Gly807Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.38955627A=CA1540476090RICTORc.2577T= (p.Asp859=)
c.537T= (p.Asp179=)
c.2529T= (p.Asp843=)
n.537T=
c.*1801T= (n.*1801T=)
c.1722T= (p.Asp574=)
c.2388T= (p.Asp796=)
c.2418T= (p.Asp806=)
5g.38955627A>CCA359563487RICTORc.2577T>G (p.Asp859Glu)
c.537T>G (p.Asp179Glu)
c.2529T>G (p.Asp843Glu)
n.537T>G
c.*1801T>G (n.*1801T>G)
c.1722T>G (p.Asp574Glu)
c.2388T>G (p.Asp796Glu)
c.2418T>G (p.Asp806Glu)
5g.38955627A>GCA3245097RICTORc.2577T>C (p.Asp859=)
c.537T>C (p.Asp179=)
c.2529T>C (p.Asp843=)
n.537T>C
c.*1801T>C (n.*1801T>C)
c.1722T>C (p.Asp574=)
c.2388T>C (p.Asp796=)
c.2418T>C (p.Asp806=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.38955627A>TCA359563491RICTORc.2577T>A (p.Asp859Glu)
c.537T>A (p.Asp179Glu)
c.2529T>A (p.Asp843Glu)
n.537T>A
c.*1801T>A (n.*1801T>A)
c.1722T>A (p.Asp574Glu)
c.2388T>A (p.Asp796Glu)
c.2418T>A (p.Asp806Glu)
5g.38955628T>ACA359563497RICTORc.2576A>T (p.Asp859Val)
c.536A>T (p.Asp179Val)
c.2528A>T (p.Asp843Val)
n.536A>T
c.*1800A>T (n.*1800A>T)
c.1721A>T (p.Asp574Val)
c.2387A>T (p.Asp796Val)
c.2417A>T (p.Asp806Val)
5g.38955628T>CCA359563499RICTORc.2576A>G (p.Asp859Gly)
c.536A>G (p.Asp179Gly)
c.2528A>G (p.Asp843Gly)
n.536A>G
c.*1800A>G (n.*1800A>G)
c.1721A>G (p.Asp574Gly)
c.2387A>G (p.Asp796Gly)
c.2417A>G (p.Asp806Gly)
gnomAD v4
5g.38955628T>GCA359563495RICTORc.2576A>C (p.Asp859Ala)
c.536A>C (p.Asp179Ala)
c.2528A>C (p.Asp843Ala)
n.536A>C
c.*1800A>C (n.*1800A>C)
c.1721A>C (p.Asp574Ala)
c.2387A>C (p.Asp796Ala)
c.2417A>C (p.Asp806Ala)
5g.38955629C>ACA359563503RICTORc.2575G>T (p.Asp859Tyr)
c.535G>T (p.Asp179Tyr)
c.2527G>T (p.Asp843Tyr)
n.535G>T
c.*1799G>T (n.*1799G>T)
c.1720G>T (p.Asp574Tyr)
c.2386G>T (p.Asp796Tyr)
c.2416G>T (p.Asp806Tyr)
5g.38955629C=CA1540476091RICTORc.2575G= (p.Asp859=)
c.535G= (p.Asp179=)
c.2527G= (p.Asp843=)
n.535G=
c.*1799G= (n.*1799G=)
c.1720G= (p.Asp574=)
c.2386G= (p.Asp796=)
c.2416G= (p.Asp806=)
5g.38955629C>GCA359563502RICTORc.2575G>C (p.Asp859His)
c.535G>C (p.Asp179His)
c.2527G>C (p.Asp843His)
n.535G>C
c.*1799G>C (n.*1799G>C)
c.1720G>C (p.Asp574His)
c.2386G>C (p.Asp796His)
c.2416G>C (p.Asp806His)
5g.38955629C>TCA359563506RICTORc.2575G>A (p.Asp859Asn)
c.535G>A (p.Asp179Asn)
c.2527G>A (p.Asp843Asn)
n.535G>A
c.*1799G>A (n.*1799G>A)
c.1720G>A (p.Asp574Asn)
c.2386G>A (p.Asp796Asn)
c.2416G>A (p.Asp806Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.38955630A>CCA443950944RICTORc.2574T>G (p.Val858=)
c.534T>G (p.Val178=)
c.2526T>G (p.Val842=)
n.534T>G
c.*1798T>G (n.*1798T>G)
c.1719T>G (p.Val573=)
c.2385T>G (p.Val795=)
c.2415T>G (p.Val805=)
5g.38955630A>GCA443950945RICTORc.2574T>C (p.Val858=)
c.534T>C (p.Val178=)
c.2526T>C (p.Val842=)
n.534T>C
c.*1798T>C (n.*1798T>C)
c.1719T>C (p.Val573=)
c.2385T>C (p.Val795=)
c.2415T>C (p.Val805=)
dbSNP
5g.38955630A>TCA443950946RICTORc.2574T>A (p.Val858=)
c.534T>A (p.Val178=)
c.2526T>A (p.Val842=)
n.534T>A
c.*1798T>A (n.*1798T>A)
c.1719T>A (p.Val573=)
c.2385T>A (p.Val795=)
c.2415T>A (p.Val805=)
5g.38955631A>CCA359563509RICTORc.2573T>G (p.Val858Gly)
c.533T>G (p.Val178Gly)
c.2525T>G (p.Val842Gly)
n.533T>G
c.*1797T>G (n.*1797T>G)
c.1718T>G (p.Val573Gly)
c.2384T>G (p.Val795Gly)
c.2414T>G (p.Val805Gly)
5g.38955631A>GCA359563512RICTORc.2573T>C (p.Val858Ala)
c.533T>C (p.Val178Ala)
c.2525T>C (p.Val842Ala)
n.533T>C
c.*1797T>C (n.*1797T>C)
c.1718T>C (p.Val573Ala)
c.2384T>C (p.Val795Ala)
c.2414T>C (p.Val805Ala)
gnomAD v4
5g.38955631A>TCA359563511RICTORc.2573T>A (p.Val858Asp)
c.533T>A (p.Val178Asp)
c.2525T>A (p.Val842Asp)
n.533T>A
c.*1797T>A (n.*1797T>A)
c.1718T>A (p.Val573Asp)
c.2384T>A (p.Val795Asp)
c.2414T>A (p.Val805Asp)
5g.38955632C>ACA359563516RICTORc.2572G>T (p.Val858Phe)
c.532G>T (p.Val178Phe)
c.2524G>T (p.Val842Phe)
n.532G>T
c.*1796G>T (n.*1796G>T)
c.1717G>T (p.Val573Phe)
c.2383G>T (p.Val795Phe)
c.2413G>T (p.Val805Phe)
5g.38955632C=CA1540476092RICTORc.2572G= (p.Val858=)
c.532G= (p.Val178=)
c.2524G= (p.Val842=)
n.532G=
c.*1796G= (n.*1796G=)
c.1717G= (p.Val573=)
c.2383G= (p.Val795=)
c.2413G= (p.Val805=)
5g.38955632C>GCA359563517RICTORc.2572G>C (p.Val858Leu)
c.532G>C (p.Val178Leu)
c.2524G>C (p.Val842Leu)
n.532G>C
c.*1796G>C (n.*1796G>C)
c.1717G>C (p.Val573Leu)
c.2383G>C (p.Val795Leu)
c.2413G>C (p.Val805Leu)
dbSNP gnomAD v3 gnomAD v4
5g.38955632C>TCA359563518RICTORc.2572G>A (p.Val858Ile)
c.532G>A (p.Val178Ile)
c.2524G>A (p.Val842Ile)
n.532G>A
c.*1796G>A (n.*1796G>A)
c.1717G>A (p.Val573Ile)
c.2383G>A (p.Val795Ile)
c.2413G>A (p.Val805Ile)
dbSNP gnomAD v4
5g.38955633A>CCA443950947RICTORc.2571T>G (p.Pro857=)
c.531T>G (p.Pro177=)
c.2523T>G (p.Pro841=)
n.531T>G
c.*1795T>G (n.*1795T>G)
c.1716T>G (p.Pro572=)
c.2382T>G (p.Pro794=)
c.2412T>G (p.Pro804=)
gnomAD v4
5g.38955633A>GCA443950948RICTORc.2571T>C (p.Pro857=)
c.531T>C (p.Pro177=)
c.2523T>C (p.Pro841=)
n.531T>C
c.*1795T>C (n.*1795T>C)
c.1716T>C (p.Pro572=)
c.2382T>C (p.Pro794=)
c.2412T>C (p.Pro804=)
gnomAD v4
5g.38955633A>TCA443950949RICTORc.2571T>A (p.Pro857=)
c.531T>A (p.Pro177=)
c.2523T>A (p.Pro841=)
n.531T>A
c.*1795T>A (n.*1795T>A)
c.1716T>A (p.Pro572=)
c.2382T>A (p.Pro794=)
c.2412T>A (p.Pro804=)
5g.38955634G>ACA359563521RICTORc.2570C>T (p.Pro857Leu)
c.530C>T (p.Pro177Leu)
c.2522C>T (p.Pro841Leu)
n.530C>T
c.*1794C>T (n.*1794C>T)
c.1715C>T (p.Pro572Leu)
c.2381C>T (p.Pro794Leu)
c.2411C>T (p.Pro804Leu)
5g.38955634G>CCA359563523RICTORc.2570C>G (p.Pro857Arg)
c.530C>G (p.Pro177Arg)
c.2522C>G (p.Pro841Arg)
n.530C>G
c.*1794C>G (n.*1794C>G)
c.1715C>G (p.Pro572Arg)
c.2381C>G (p.Pro794Arg)
c.2411C>G (p.Pro804Arg)
5g.38955634G>TCA359563524RICTORc.2570C>A (p.Pro857His)
c.530C>A (p.Pro177His)
c.2522C>A (p.Pro841His)
n.530C>A
c.*1794C>A (n.*1794C>A)
c.1715C>A (p.Pro572His)
c.2381C>A (p.Pro794His)
c.2411C>A (p.Pro804His)
5g.38955635G>ACA359563528RICTORc.2569C>T (p.Pro857Ser)
c.529C>T (p.Pro177Ser)
c.2521C>T (p.Pro841Ser)
n.529C>T
c.*1793C>T (n.*1793C>T)
c.1714C>T (p.Pro572Ser)
c.2380C>T (p.Pro794Ser)
c.2410C>T (p.Pro804Ser)
dbSNP
5g.38955635G>CCA359563530RICTORc.2569C>G (p.Pro857Ala)
c.529C>G (p.Pro177Ala)
c.2521C>G (p.Pro841Ala)
n.529C>G
c.*1793C>G (n.*1793C>G)
c.1714C>G (p.Pro572Ala)
c.2380C>G (p.Pro794Ala)
c.2410C>G (p.Pro804Ala)
5g.38955635G>TCA359563532RICTORc.2569C>A (p.Pro857Thr)
c.529C>A (p.Pro177Thr)
c.2521C>A (p.Pro841Thr)
n.529C>A
c.*1793C>A (n.*1793C>A)
c.1714C>A (p.Pro572Thr)
c.2380C>A (p.Pro794Thr)
c.2410C>A (p.Pro804Thr)
gnomAD v4
5g.38955636C>ACA359563535RICTORc.2568G>T (p.Lys856Asn)
c.528G>T (p.Lys176Asn)
c.2520G>T (p.Lys840Asn)
n.528G>T
c.*1792G>T (n.*1792G>T)
c.1713G>T (p.Lys571Asn)
c.2379G>T (p.Lys793Asn)
c.2409G>T (p.Lys803Asn)
5g.38955636C=CA1540476093RICTORc.2568G= (p.Lys856=)
c.528G= (p.Lys176=)
c.2520G= (p.Lys840=)
n.528G=
c.*1792G= (n.*1792G=)
c.1713G= (p.Lys571=)
c.2379G= (p.Lys793=)
c.2409G= (p.Lys803=)
5g.38955636C>GCA359563537RICTORc.2568G>C (p.Lys856Asn)
c.528G>C (p.Lys176Asn)
c.2520G>C (p.Lys840Asn)
n.528G>C
c.*1792G>C (n.*1792G>C)
c.1713G>C (p.Lys571Asn)
c.2379G>C (p.Lys793Asn)
c.2409G>C (p.Lys803Asn)
gnomAD v4
5g.38955636C>TCA3245098RICTORc.2568G>A (p.Lys856=)
c.528G>A (p.Lys176=)
c.2520G>A (p.Lys840=)
n.528G>A
c.*1792G>A (n.*1792G>A)
c.1713G>A (p.Lys571=)
c.2379G>A (p.Lys793=)
c.2409G>A (p.Lys803=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.38955637T>ACA359563545RICTORc.2567A>T (p.Lys856Met)
c.527A>T (p.Lys176Met)
c.2519A>T (p.Lys840Met)
n.527A>T
c.*1791A>T (n.*1791A>T)
c.1712A>T (p.Lys571Met)
c.2378A>T (p.Lys793Met)
c.2408A>T (p.Lys803Met)
5g.38955637T>CCA359563541RICTORc.2567A>G (p.Lys856Arg)
c.527A>G (p.Lys176Arg)
c.2519A>G (p.Lys840Arg)
n.527A>G
c.*1791A>G (n.*1791A>G)
c.1712A>G (p.Lys571Arg)
c.2378A>G (p.Lys793Arg)
c.2408A>G (p.Lys803Arg)
5g.38955637T>GCA359563543RICTORc.2567A>C (p.Lys856Thr)
c.527A>C (p.Lys176Thr)
c.2519A>C (p.Lys840Thr)
n.527A>C
c.*1791A>C (n.*1791A>C)
c.1712A>C (p.Lys571Thr)
c.2378A>C (p.Lys793Thr)
c.2408A>C (p.Lys803Thr)
5g.38955638T>ACA359563546RICTORc.2566A>T (p.Lys856Ter)
c.526A>T (p.Lys176Ter)
c.2518A>T (p.Lys840Ter)
n.526A>T
c.*1790A>T (n.*1790A>T)
c.1711A>T (p.Lys571Ter)
c.2377A>T (p.Lys793Ter)
c.2407A>T (p.Lys803Ter)
5g.38955638T>CCA359563548RICTORc.2566A>G (p.Lys856Glu)
c.526A>G (p.Lys176Glu)
c.2518A>G (p.Lys840Glu)
n.526A>G
c.*1790A>G (n.*1790A>G)
c.1711A>G (p.Lys571Glu)
c.2377A>G (p.Lys793Glu)
c.2407A>G (p.Lys803Glu)
dbSNP
5g.38955638T>GCA359563550RICTORc.2566A>C (p.Lys856Gln)
c.526A>C (p.Lys176Gln)
c.2518A>C (p.Lys840Gln)
n.526A>C
c.*1790A>C (n.*1790A>C)
c.1711A>C (p.Lys571Gln)
c.2377A>C (p.Lys793Gln)
c.2407A>C (p.Lys803Gln)
5g.38955638T=CA1540476094RICTORc.2566A= (p.Lys856=)
c.526A= (p.Lys176=)
c.2518A= (p.Lys840=)
n.526A=
c.*1790A= (n.*1790A=)
c.1711A= (p.Lys571=)
c.2377A= (p.Lys793=)
c.2407A= (p.Lys803=)
5g.38955639C>ACA443950950RICTORc.2565G>T (p.Arg855=)
c.525G>T (p.Arg175=)
c.2517G>T (p.Arg839=)
n.525G>T
c.*1789G>T (n.*1789G>T)
c.1710G>T (p.Arg570=)
c.2376G>T (p.Arg792=)
c.2406G>T (p.Arg802=)
5g.38955639C>GCA443950951RICTORc.2565G>C (p.Arg855=)
c.525G>C (p.Arg175=)
c.2517G>C (p.Arg839=)
n.525G>C
c.*1789G>C (n.*1789G>C)
c.1710G>C (p.Arg570=)
c.2376G>C (p.Arg792=)
c.2406G>C (p.Arg802=)
5g.38955639C>TCA443950952RICTORc.2565G>A (p.Arg855=)
c.525G>A (p.Arg175=)
c.2517G>A (p.Arg839=)
n.525G>A
c.*1789G>A (n.*1789G>A)
c.1710G>A (p.Arg570=)
c.2376G>A (p.Arg792=)
c.2406G>A (p.Arg802=)
5g.38955640C>ACA359563554RICTORc.2564G>T (p.Arg855Leu)
c.524G>T (p.Arg175Leu)
c.2516G>T (p.Arg839Leu)
n.524G>T
c.*1788G>T (n.*1788G>T)
c.1709G>T (p.Arg570Leu)
c.2375G>T (p.Arg792Leu)
c.2405G>T (p.Arg802Leu)
5g.38955640C=CA1540476095RICTORc.2564G= (p.Arg855=)
c.524G= (p.Arg175=)
c.2516G= (p.Arg839=)
n.524G=
c.*1788G= (n.*1788G=)
c.1709G= (p.Arg570=)
c.2375G= (p.Arg792=)
c.2405G= (p.Arg802=)
5g.38955640C>GCA359563556RICTORc.2564G>C (p.Arg855Pro)
c.524G>C (p.Arg175Pro)
c.2516G>C (p.Arg839Pro)
n.524G>C
c.*1788G>C (n.*1788G>C)
c.1709G>C (p.Arg570Pro)
c.2375G>C (p.Arg792Pro)
c.2405G>C (p.Arg802Pro)
5g.38955640C>TCA3245099RICTORc.2564G>A (p.Arg855Gln)
c.524G>A (p.Arg175Gln)
c.2516G>A (p.Arg839Gln)
n.524G>A
c.*1788G>A (n.*1788G>A)
c.1709G>A (p.Arg570Gln)
c.2375G>A (p.Arg792Gln)
c.2405G>A (p.Arg802Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.38955641G>ACA3245100RICTORc.2563C>T (p.Arg855Trp)
c.523C>T (p.Arg175Trp)
c.2515C>T (p.Arg839Trp)
n.523C>T
c.*1787C>T (n.*1787C>T)
c.1708C>T (p.Arg570Trp)
c.2374C>T (p.Arg792Trp)
c.2404C>T (p.Arg802Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.38955641G>CCA359563561RICTORc.2563C>G (p.Arg855Gly)
c.523C>G (p.Arg175Gly)
c.2515C>G (p.Arg839Gly)
n.523C>G
c.*1787C>G (n.*1787C>G)
c.1708C>G (p.Arg570Gly)
c.2374C>G (p.Arg792Gly)
c.2404C>G (p.Arg802Gly)
5g.38955641G=CA1540476096RICTORc.2563C= (p.Arg855=)
c.523C= (p.Arg175=)
c.2515C= (p.Arg839=)
n.523C=
c.*1787C= (n.*1787C=)
c.1708C= (p.Arg570=)
c.2374C= (p.Arg792=)
c.2404C= (p.Arg802=)
5g.38955641G>TCA443950953RICTORc.2563C>A (p.Arg855=)
c.523C>A (p.Arg175=)
c.2515C>A (p.Arg839=)
n.523C>A
c.*1787C>A (n.*1787C>A)
c.1708C>A (p.Arg570=)
c.2374C>A (p.Arg792=)
c.2404C>A (p.Arg802=)
gnomAD v4
5g.38955642G>ACA443950954RICTORc.2562C>T (p.Tyr854=)
c.522C>T (p.Tyr174=)
c.2514C>T (p.Tyr838=)
n.522C>T
c.*1786C>T (n.*1786C>T)
c.1707C>T (p.Tyr569=)
c.2373C>T (p.Tyr791=)
c.2403C>T (p.Tyr801=)
dbSNP
5g.38955642G>CCA359563564RICTORc.2562C>G (p.Tyr854Ter)
c.522C>G (p.Tyr174Ter)
c.2514C>G (p.Tyr838Ter)
n.522C>G
c.*1786C>G (n.*1786C>G)
c.1707C>G (p.Tyr569Ter)
c.2373C>G (p.Tyr791Ter)
c.2403C>G (p.Tyr801Ter)
dbSNP
5g.38955642G=CA1540476097RICTORc.2562C= (p.Tyr854=)
c.522C= (p.Tyr174=)
c.2514C= (p.Tyr838=)
n.522C=
c.*1786C= (n.*1786C=)
c.1707C= (p.Tyr569=)
c.2373C= (p.Tyr791=)
c.2403C= (p.Tyr801=)
5g.38955642G>TCA359563566RICTORc.2562C>A (p.Tyr854Ter)
c.522C>A (p.Tyr174Ter)
c.2514C>A (p.Tyr838Ter)
n.522C>A
c.*1786C>A (n.*1786C>A)
c.1707C>A (p.Tyr569Ter)
c.2373C>A (p.Tyr791Ter)
c.2403C>A (p.Tyr801Ter)
5g.38955643T>ACA359563571RICTORc.2561A>T (p.Tyr854Phe)
c.521A>T (p.Tyr174Phe)
c.2513A>T (p.Tyr838Phe)
n.521A>T
c.*1785A>T (n.*1785A>T)
c.1706A>T (p.Tyr569Phe)
c.2372A>T (p.Tyr791Phe)
c.2402A>T (p.Tyr801Phe)
5g.38955643T>CCA359563569RICTORc.2561A>G (p.Tyr854Cys)
c.521A>G (p.Tyr174Cys)
c.2513A>G (p.Tyr838Cys)
n.521A>G
c.*1785A>G (n.*1785A>G)
c.1706A>G (p.Tyr569Cys)
c.2372A>G (p.Tyr791Cys)
c.2402A>G (p.Tyr801Cys)
5g.38955643T>GCA359563568RICTORc.2561A>C (p.Tyr854Ser)
c.521A>C (p.Tyr174Ser)
c.2513A>C (p.Tyr838Ser)
n.521A>C
c.*1785A>C (n.*1785A>C)
c.1706A>C (p.Tyr569Ser)
c.2372A>C (p.Tyr791Ser)
c.2402A>C (p.Tyr801Ser)
5g.38955644A>CCA359563574RICTORc.2560T>G (p.Tyr854Asp)
c.520T>G (p.Tyr174Asp)
c.2512T>G (p.Tyr838Asp)
n.520T>G
c.*1784T>G (n.*1784T>G)
c.1705T>G (p.Tyr569Asp)
c.2371T>G (p.Tyr791Asp)
c.2401T>G (p.Tyr801Asp)
5g.38955644A>GCA359563575RICTORc.2560T>C (p.Tyr854His)
c.520T>C (p.Tyr174His)
c.2512T>C (p.Tyr838His)
n.520T>C
c.*1784T>C (n.*1784T>C)
c.1705T>C (p.Tyr569His)
c.2371T>C (p.Tyr791His)
c.2401T>C (p.Tyr801His)
5g.38955644A>TCA359563577RICTORc.2560T>A (p.Tyr854Asn)
c.520T>A (p.Tyr174Asn)
c.2512T>A (p.Tyr838Asn)
n.520T>A
c.*1784T>A (n.*1784T>A)
c.1705T>A (p.Tyr569Asn)
c.2371T>A (p.Tyr791Asn)
c.2401T>A (p.Tyr801Asn)
5g.38955645A>CCA443950955RICTORc.2559T>G (p.Thr853=)
c.519T>G (p.Thr173=)
c.2511T>G (p.Thr837=)
n.519T>G
c.*1783T>G (n.*1783T>G)
c.1704T>G (p.Thr568=)
c.2370T>G (p.Thr790=)
c.2400T>G (p.Thr800=)
5g.38955645A>GCA443950956RICTORc.2559T>C (p.Thr853=)
c.519T>C (p.Thr173=)
c.2511T>C (p.Thr837=)
n.519T>C
c.*1783T>C (n.*1783T>C)
c.1704T>C (p.Thr568=)
c.2370T>C (p.Thr790=)
c.2400T>C (p.Thr800=)
COSMIC COSMIC
5g.38955645A>TCA443950957RICTORc.2559T>A (p.Thr853=)
c.519T>A (p.Thr173=)
c.2511T>A (p.Thr837=)
n.519T>A
c.*1783T>A (n.*1783T>A)
c.1704T>A (p.Thr568=)
c.2370T>A (p.Thr790=)
c.2400T>A (p.Thr800=)
5g.38955646G>ACA359563580RICTORc.2558C>T (p.Thr853Ile)
c.518C>T (p.Thr173Ile)
c.2510C>T (p.Thr837Ile)
n.518C>T
c.*1782C>T (n.*1782C>T)
c.1703C>T (p.Thr568Ile)
c.2369C>T (p.Thr790Ile)
c.2399C>T (p.Thr800Ile)
dbSNP gnomAD v4
5g.38955646G>CCA359563582RICTORc.2558C>G (p.Thr853Ser)
c.518C>G (p.Thr173Ser)
c.2510C>G (p.Thr837Ser)
n.518C>G
c.*1782C>G (n.*1782C>G)
c.1703C>G (p.Thr568Ser)
c.2369C>G (p.Thr790Ser)
c.2399C>G (p.Thr800Ser)
5g.38955646G>TCA359563584RICTORc.2558C>A (p.Thr853Asn)
c.518C>A (p.Thr173Asn)
c.2510C>A (p.Thr837Asn)
n.518C>A
c.*1782C>A (n.*1782C>A)
c.1703C>A (p.Thr568Asn)
c.2369C>A (p.Thr790Asn)
c.2399C>A (p.Thr800Asn)
gnomAD v4
5g.38955647T>ACA359563587RICTORc.2557A>T (p.Thr853Ser)
c.517A>T (p.Thr173Ser)
c.2509A>T (p.Thr837Ser)
n.517A>T
c.*1781A>T (n.*1781A>T)
c.1702A>T (p.Thr568Ser)
c.2368A>T (p.Thr790Ser)
c.2398A>T (p.Thr800Ser)
5g.38955647T>CCA3245101RICTORc.2557A>G (p.Thr853Ala)
c.517A>G (p.Thr173Ala)
c.2509A>G (p.Thr837Ala)
n.517A>G
c.*1781A>G (n.*1781A>G)
c.1702A>G (p.Thr568Ala)
c.2368A>G (p.Thr790Ala)
c.2398A>G (p.Thr800Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.38955647T>GCA359563591RICTORc.2557A>C (p.Thr853Pro)
c.517A>C (p.Thr173Pro)
c.2509A>C (p.Thr837Pro)
n.517A>C
c.*1781A>C (n.*1781A>C)
c.1702A>C (p.Thr568Pro)
c.2368A>C (p.Thr790Pro)
c.2398A>C (p.Thr800Pro)
5g.38955647T=CA1540476098RICTORc.2557A= (p.Thr853=)
c.517A= (p.Thr173=)
c.2509A= (p.Thr837=)
n.517A=
c.*1781A= (n.*1781A=)
c.1702A= (p.Thr568=)
c.2368A= (p.Thr790=)
c.2398A= (p.Thr800=)
5g.38955648A>CCA443950958RICTORc.2556T>G (p.Thr852=)
c.516T>G (p.Thr172=)
c.2508T>G (p.Thr836=)
n.516T>G
c.*1780T>G (n.*1780T>G)
c.1701T>G (p.Thr567=)
c.2367T>G (p.Thr789=)
c.2397T>G (p.Thr799=)
5g.38955648A>GCA443950959RICTORc.2556T>C (p.Thr852=)
c.516T>C (p.Thr172=)
c.2508T>C (p.Thr836=)
n.516T>C
c.*1780T>C (n.*1780T>C)
c.1701T>C (p.Thr567=)
c.2367T>C (p.Thr789=)
c.2397T>C (p.Thr799=)
dbSNP
5g.38955648A>TCA443950960RICTORc.2556T>A (p.Thr852=)
c.516T>A (p.Thr172=)
c.2508T>A (p.Thr836=)
n.516T>A
c.*1780T>A (n.*1780T>A)
c.1701T>A (p.Thr567=)
c.2367T>A (p.Thr789=)
c.2397T>A (p.Thr799=)
5g.38955649G>ACA359563594RICTORc.2555C>T (p.Thr852Ile)
c.515C>T (p.Thr172Ile)
c.2507C>T (p.Thr836Ile)
n.515C>T
c.*1779C>T (n.*1779C>T)
c.1700C>T (p.Thr567Ile)
c.2366C>T (p.Thr789Ile)
c.2396C>T (p.Thr799Ile)
dbSNP
5g.38955649G>CCA359563595RICTORc.2555C>G (p.Thr852Ser)
c.515C>G (p.Thr172Ser)
c.2507C>G (p.Thr836Ser)
n.515C>G
c.*1779C>G (n.*1779C>G)
c.1700C>G (p.Thr567Ser)
c.2366C>G (p.Thr789Ser)
c.2396C>G (p.Thr799Ser)
5g.38955649G>TCA359563597RICTORc.2555C>A (p.Thr852Asn)
c.515C>A (p.Thr172Asn)
c.2507C>A (p.Thr836Asn)
n.515C>A
c.*1779C>A (n.*1779C>A)
c.1700C>A (p.Thr567Asn)
c.2366C>A (p.Thr789Asn)
c.2396C>A (p.Thr799Asn)
gnomAD v4
5g.38955650delCA2578295773RICTORc.2554del (p.Thr852LeufsTer?)
c.514del (p.Thr172LeufsTer23)
c.2506del (p.Thr836LeufsTer?)
n.514del
c.*1778del (n.*1778del)
c.1699del (p.Thr567LeufsTer?)
c.2365del (p.Thr789LeufsTer?)
c.2395del (p.Thr799LeufsTer?)
5g.38955650T>ACA359563603RICTORc.2554A>T (p.Thr852Ser)
c.514A>T (p.Thr172Ser)
c.2506A>T (p.Thr836Ser)
n.514A>T
c.*1778A>T (n.*1778A>T)
c.1699A>T (p.Thr567Ser)
c.2365A>T (p.Thr789Ser)
c.2395A>T (p.Thr799Ser)
gnomAD v4
5g.38955650T>CCA3245102RICTORc.2554A>G (p.Thr852Ala)
c.514A>G (p.Thr172Ala)
c.2506A>G (p.Thr836Ala)
n.514A>G
c.*1778A>G (n.*1778A>G)
c.1699A>G (p.Thr567Ala)
c.2365A>G (p.Thr789Ala)
c.2395A>G (p.Thr799Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.38955650T>GCA359563601RICTORc.2554A>C (p.Thr852Pro)
c.514A>C (p.Thr172Pro)
c.2506A>C (p.Thr836Pro)
n.514A>C
c.*1778A>C (n.*1778A>C)
c.1699A>C (p.Thr567Pro)
c.2365A>C (p.Thr789Pro)
c.2395A>C (p.Thr799Pro)
5g.38955650T=CA1540476099RICTORc.2554A= (p.Thr852=)
c.514A= (p.Thr172=)
c.2506A= (p.Thr836=)
n.514A=
c.*1778A= (n.*1778A=)
c.1699A= (p.Thr567=)
c.2365A= (p.Thr789=)
c.2395A= (p.Thr799=)
5g.38955651A>CCA443950961RICTORc.2553T>G (p.Leu851=)
c.513T>G (p.Leu171=)
c.2505T>G (p.Leu835=)
n.513T>G
c.*1777T>G (n.*1777T>G)
c.1698T>G (p.Leu566=)
c.2364T>G (p.Leu788=)
c.2394T>G (p.Leu798=)
5g.38955651A>GCA443950962RICTORc.2553T>C (p.Leu851=)
c.513T>C (p.Leu171=)
c.2505T>C (p.Leu835=)
n.513T>C
c.*1777T>C (n.*1777T>C)
c.1698T>C (p.Leu566=)
c.2364T>C (p.Leu788=)
c.2394T>C (p.Leu798=)
5g.38955651A>TCA443950963RICTORc.2553T>A (p.Leu851=)
c.513T>A (p.Leu171=)
c.2505T>A (p.Leu835=)
n.513T>A
c.*1777T>A (n.*1777T>A)
c.1698T>A (p.Leu566=)
c.2364T>A (p.Leu788=)
c.2394T>A (p.Leu798=)
5g.38955652A>CCA359563606RICTORc.2552T>G (p.Leu851Arg)
c.512T>G (p.Leu171Arg)
c.2504T>G (p.Leu835Arg)
n.512T>G
c.*1776T>G (n.*1776T>G)
c.1697T>G (p.Leu566Arg)
c.2363T>G (p.Leu788Arg)
c.2393T>G (p.Leu798Arg)
5g.38955652A>GCA359563608RICTORc.2552T>C (p.Leu851Pro)
c.512T>C (p.Leu171Pro)
c.2504T>C (p.Leu835Pro)
n.512T>C
c.*1776T>C (n.*1776T>C)
c.1697T>C (p.Leu566Pro)
c.2363T>C (p.Leu788Pro)
c.2393T>C (p.Leu798Pro)
5g.38955652A>TCA359563610RICTORc.2552T>A (p.Leu851His)
c.512T>A (p.Leu171His)
c.2504T>A (p.Leu835His)
n.512T>A
c.*1776T>A (n.*1776T>A)
c.1697T>A (p.Leu566His)
c.2363T>A (p.Leu788His)
c.2393T>A (p.Leu798His)
5g.38955653G>ACA359563611RICTORc.2551C>T (p.Leu851Phe)
c.511C>T (p.Leu171Phe)
c.2503C>T (p.Leu835Phe)
n.511C>T
c.*1775C>T (n.*1775C>T)
c.1696C>T (p.Leu566Phe)
c.2362C>T (p.Leu788Phe)
c.2392C>T (p.Leu798Phe)
5g.38955653G>CCA359563613RICTORc.2551C>G (p.Leu851Val)
c.511C>G (p.Leu171Val)
c.2503C>G (p.Leu835Val)
n.511C>G
c.*1775C>G (n.*1775C>G)
c.1696C>G (p.Leu566Val)
c.2362C>G (p.Leu788Val)
c.2392C>G (p.Leu798Val)
5g.38955653G>TCA359563615RICTORc.2551C>A (p.Leu851Ile)
c.511C>A (p.Leu171Ile)
c.2503C>A (p.Leu835Ile)
n.511C>A
c.*1775C>A (n.*1775C>A)
c.1696C>A (p.Leu566Ile)
c.2362C>A (p.Leu788Ile)
c.2392C>A (p.Leu798Ile)
5g.38955654T>ACA443950964RICTORc.2550A>T (p.Ala850=)
c.510A>T (p.Ala170=)
c.2502A>T (p.Ala834=)
n.510A>T
c.*1774A>T (n.*1774A>T)
c.1695A>T (p.Ala565=)
c.2361A>T (p.Ala787=)
c.2391A>T (p.Ala797=)
5g.38955654T>CCA443950965RICTORc.2550A>G (p.Ala850=)
c.510A>G (p.Ala170=)
c.2502A>G (p.Ala834=)
n.510A>G
c.*1774A>G (n.*1774A>G)
c.1695A>G (p.Ala565=)
c.2361A>G (p.Ala787=)
c.2391A>G (p.Ala797=)
5g.38955654T>GCA443950966RICTORc.2550A>C (p.Ala850=)
c.510A>C (p.Ala170=)
c.2502A>C (p.Ala834=)
n.510A>C
c.*1774A>C (n.*1774A>C)
c.1695A>C (p.Ala565=)
c.2361A>C (p.Ala787=)
c.2391A>C (p.Ala797=)
5g.38955655G>ACA359563618RICTORc.2549C>T (p.Ala850Val)
c.509C>T (p.Ala170Val)
c.2501C>T (p.Ala834Val)
n.509C>T
c.*1773C>T (n.*1773C>T)
c.1694C>T (p.Ala565Val)
c.2360C>T (p.Ala787Val)
c.2390C>T (p.Ala797Val)
dbSNP
5g.38955655G>CCA359563619RICTORc.2549C>G (p.Ala850Gly)
c.509C>G (p.Ala170Gly)
c.2501C>G (p.Ala834Gly)
n.509C>G
c.*1773C>G (n.*1773C>G)
c.1694C>G (p.Ala565Gly)
c.2360C>G (p.Ala787Gly)
c.2390C>G (p.Ala797Gly)
5g.38955655G=CA1540476100RICTORc.2549C= (p.Ala850=)
c.509C= (p.Ala170=)
c.2501C= (p.Ala834=)
n.509C=
c.*1773C= (n.*1773C=)
c.1694C= (p.Ala565=)
c.2360C= (p.Ala787=)
c.2390C= (p.Ala797=)
5g.38955655G>TCA359563621RICTORc.2549C>A (p.Ala850Glu)
c.509C>A (p.Ala170Glu)
c.2501C>A (p.Ala834Glu)
n.509C>A
c.*1773C>A (n.*1773C>A)
c.1694C>A (p.Ala565Glu)
c.2360C>A (p.Ala787Glu)
c.2390C>A (p.Ala797Glu)
gnomAD v4
5g.38955656C>ACA359563623RICTORc.2548G>T (p.Ala850Ser)
c.508G>T (p.Ala170Ser)
c.2500G>T (p.Ala834Ser)
n.508G>T
c.*1772G>T (n.*1772G>T)
c.1693G>T (p.Ala565Ser)
c.2359G>T (p.Ala787Ser)
c.2389G>T (p.Ala797Ser)
gnomAD v4
5g.38955656C>GCA359563624RICTORc.2548G>C (p.Ala850Pro)
c.508G>C (p.Ala170Pro)
c.2500G>C (p.Ala834Pro)
n.508G>C
c.*1772G>C (n.*1772G>C)
c.1693G>C (p.Ala565Pro)
c.2359G>C (p.Ala787Pro)
c.2389G>C (p.Ala797Pro)
5g.38955656C>TCA359563625RICTORc.2548G>A (p.Ala850Thr)
c.508G>A (p.Ala170Thr)
c.2500G>A (p.Ala834Thr)
n.508G>A
c.*1772G>A (n.*1772G>A)
c.1693G>A (p.Ala565Thr)
c.2359G>A (p.Ala787Thr)
c.2389G>A (p.Ala797Thr)
dbSNP gnomAD v4
5g.38955657T>ACA359563630RICTORc.2547A>T (p.Glu849Asp)
c.507A>T (p.Glu169Asp)
c.2499A>T (p.Glu833Asp)
n.507A>T
c.*1771A>T (n.*1771A>T)
c.1692A>T (p.Glu564Asp)
c.2358A>T (p.Glu786Asp)
c.2388A>T (p.Glu796Asp)
5g.38955657T>CCA443950967RICTORc.2547A>G (p.Glu849=)
c.507A>G (p.Glu169=)
c.2499A>G (p.Glu833=)
n.507A>G
c.*1771A>G (n.*1771A>G)
c.1692A>G (p.Glu564=)
c.2358A>G (p.Glu786=)
c.2388A>G (p.Glu796=)
5g.38955657T>GCA359563628RICTORc.2547A>C (p.Glu849Asp)
c.507A>C (p.Glu169Asp)
c.2499A>C (p.Glu833Asp)
n.507A>C
c.*1771A>C (n.*1771A>C)
c.1692A>C (p.Glu564Asp)
c.2358A>C (p.Glu786Asp)
c.2388A>C (p.Glu796Asp)
5g.38955658T>ACA359563632RICTORc.2546A>T (p.Glu849Val)
c.506A>T (p.Glu169Val)
c.2498A>T (p.Glu833Val)
n.506A>T
c.*1770A>T (n.*1770A>T)
c.1691A>T (p.Glu564Val)
c.2357A>T (p.Glu786Val)
c.2387A>T (p.Glu796Val)
5g.38955658T>CCA359563634RICTORc.2546A>G (p.Glu849Gly)
c.506A>G (p.Glu169Gly)
c.2498A>G (p.Glu833Gly)
n.506A>G
c.*1770A>G (n.*1770A>G)
c.1691A>G (p.Glu564Gly)
c.2357A>G (p.Glu786Gly)
c.2387A>G (p.Glu796Gly)
5g.38955658T>GCA359563636RICTORc.2546A>C (p.Glu849Ala)
c.506A>C (p.Glu169Ala)
c.2498A>C (p.Glu833Ala)
n.506A>C
c.*1770A>C (n.*1770A>C)
c.1691A>C (p.Glu564Ala)
c.2357A>C (p.Glu786Ala)
c.2387A>C (p.Glu796Ala)
5g.38955659C>ACA359563638RICTORc.2545G>T (p.Glu849Ter)
c.505G>T (p.Glu169Ter)
c.2497G>T (p.Glu833Ter)
n.505G>T
c.*1769G>T (n.*1769G>T)
c.1690G>T (p.Glu564Ter)
c.2356G>T (p.Glu786Ter)
c.2386G>T (p.Glu796Ter)
5g.38955659C>GCA359563640RICTORc.2545G>C (p.Glu849Gln)
c.505G>C (p.Glu169Gln)
c.2497G>C (p.Glu833Gln)
n.505G>C
c.*1769G>C (n.*1769G>C)
c.1690G>C (p.Glu564Gln)
c.2356G>C (p.Glu786Gln)
c.2386G>C (p.Glu796Gln)
5g.38955659C>TCA359563641RICTORc.2545G>A (p.Glu849Lys)
c.505G>A (p.Glu169Lys)
c.2497G>A (p.Glu833Lys)
n.505G>A
c.*1769G>A (n.*1769G>A)
c.1690G>A (p.Glu564Lys)
c.2356G>A (p.Glu786Lys)
c.2386G>A (p.Glu796Lys)
5g.38955660A>CCA359563646RICTORc.2544T>G (p.Asn848Lys)
c.504T>G (p.Asn168Lys)
c.2496T>G (p.Asn832Lys)
n.504T>G
c.*1768T>G (n.*1768T>G)
c.1689T>G (p.Asn563Lys)
c.2355T>G (p.Asn785Lys)
c.2385T>G (p.Asn795Lys)
5g.38955660A>GCA443950968RICTORc.2544T>C (p.Asn848=)
c.504T>C (p.Asn168=)
c.2496T>C (p.Asn832=)
n.504T>C
c.*1768T>C (n.*1768T>C)
c.1689T>C (p.Asn563=)
c.2355T>C (p.Asn785=)
c.2385T>C (p.Asn795=)
5g.38955660A>TCA359563644RICTORc.2544T>A (p.Asn848Lys)
c.504T>A (p.Asn168Lys)
c.2496T>A (p.Asn832Lys)
n.504T>A
c.*1768T>A (n.*1768T>A)
c.1689T>A (p.Asn563Lys)
c.2355T>A (p.Asn785Lys)
c.2385T>A (p.Asn795Lys)
5g.38955661T>ACA359563649RICTORc.2543A>T (p.Asn848Ile)
c.503A>T (p.Asn168Ile)
c.2495A>T (p.Asn832Ile)
n.503A>T
c.*1767A>T (n.*1767A>T)
c.1688A>T (p.Asn563Ile)
c.2354A>T (p.Asn785Ile)
c.2384A>T (p.Asn795Ile)
5g.38955661T>CCA359563651RICTORc.2543A>G (p.Asn848Ser)
c.503A>G (p.Asn168Ser)
c.2495A>G (p.Asn832Ser)
n.503A>G
c.*1767A>G (n.*1767A>G)
c.1688A>G (p.Asn563Ser)
c.2354A>G (p.Asn785Ser)
c.2384A>G (p.Asn795Ser)
dbSNP gnomAD v2 gnomAD v4
5g.38955661T>GCA359563653RICTORc.2543A>C (p.Asn848Thr)
c.503A>C (p.Asn168Thr)
c.2495A>C (p.Asn832Thr)
n.503A>C
c.*1767A>C (n.*1767A>C)
c.1688A>C (p.Asn563Thr)
c.2354A>C (p.Asn785Thr)
c.2384A>C (p.Asn795Thr)
5g.38955661T=CA1540476101RICTORc.2543A= (p.Asn848=)
c.503A= (p.Asn168=)
c.2495A= (p.Asn832=)
n.503A=
c.*1767A= (n.*1767A=)
c.1688A= (p.Asn563=)
c.2354A= (p.Asn785=)
c.2384A= (p.Asn795=)
5g.38955662T>ACA359563656RICTORc.2542A>T (p.Asn848Tyr)
c.502A>T (p.Asn168Tyr)
c.2494A>T (p.Asn832Tyr)
n.502A>T
c.*1766A>T (n.*1766A>T)
c.1687A>T (p.Asn563Tyr)
c.2353A>T (p.Asn785Tyr)
c.2383A>T (p.Asn795Tyr)
5g.38955662T>CCA359563659RICTORc.2542A>G (p.Asn848Asp)
c.502A>G (p.Asn168Asp)
c.2494A>G (p.Asn832Asp)
n.502A>G
c.*1766A>G (n.*1766A>G)
c.1687A>G (p.Asn563Asp)
c.2353A>G (p.Asn785Asp)
c.2383A>G (p.Asn795Asp)
5g.38955662T>GCA359563661RICTORc.2542A>C (p.Asn848His)
c.502A>C (p.Asn168His)
c.2494A>C (p.Asn832His)
n.502A>C
c.*1766A>C (n.*1766A>C)
c.1687A>C (p.Asn563His)
c.2353A>C (p.Asn785His)
c.2383A>C (p.Asn795His)
gnomAD v4
5g.38955663G>ACA443950969RICTORc.2541C>T (p.Leu847=)
c.501C>T (p.Leu167=)
c.2493C>T (p.Leu831=)
n.501C>T
c.*1765C>T (n.*1765C>T)
c.1686C>T (p.Leu562=)
c.2352C>T (p.Leu784=)
c.2382C>T (p.Leu794=)
gnomAD v4
5g.38955663G>CCA443950970RICTORc.2541C>G (p.Leu847=)
c.501C>G (p.Leu167=)
c.2493C>G (p.Leu831=)
n.501C>G
c.*1765C>G (n.*1765C>G)
c.1686C>G (p.Leu562=)
c.2352C>G (p.Leu784=)
c.2382C>G (p.Leu794=)
dbSNP gnomAD v2 gnomAD v4
5g.38955663G=CA1540476102RICTORc.2541C= (p.Leu847=)
c.501C= (p.Leu167=)
c.2493C= (p.Leu831=)
n.501C=
c.*1765C= (n.*1765C=)
c.1686C= (p.Leu562=)
c.2352C= (p.Leu784=)
c.2382C= (p.Leu794=)
5g.38955663G>TCA443950971RICTORc.2541C>A (p.Leu847=)
c.501C>A (p.Leu167=)
c.2493C>A (p.Leu831=)
n.501C>A
c.*1765C>A (n.*1765C>A)
c.1686C>A (p.Leu562=)
c.2352C>A (p.Leu784=)
c.2382C>A (p.Leu794=)
COSMIC COSMIC
5g.38955664A>CCA359563667RICTORc.2540T>G (p.Leu847Arg)
c.500T>G (p.Leu167Arg)
c.2492T>G (p.Leu831Arg)
n.500T>G
c.*1764T>G (n.*1764T>G)
c.1685T>G (p.Leu562Arg)
c.2351T>G (p.Leu784Arg)
c.2381T>G (p.Leu794Arg)
5g.38955664A>GCA359563663RICTORc.2540T>C (p.Leu847Pro)
c.500T>C (p.Leu167Pro)
c.2492T>C (p.Leu831Pro)
n.500T>C
c.*1764T>C (n.*1764T>C)
c.1685T>C (p.Leu562Pro)
c.2351T>C (p.Leu784Pro)
c.2381T>C (p.Leu794Pro)
5g.38955664A>TCA359563665RICTORc.2540T>A (p.Leu847His)
c.500T>A (p.Leu167His)
c.2492T>A (p.Leu831His)
n.500T>A
c.*1764T>A (n.*1764T>A)
c.1685T>A (p.Leu562His)
c.2351T>A (p.Leu784His)
c.2381T>A (p.Leu794His)
5g.38955665G>ACA359563670RICTORc.2539C>T (p.Leu847Phe)
c.499C>T (p.Leu167Phe)
c.2491C>T (p.Leu831Phe)
n.499C>T
c.*1763C>T (n.*1763C>T)
c.1684C>T (p.Leu562Phe)
c.2350C>T (p.Leu784Phe)
c.2380C>T (p.Leu794Phe)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.38955665G>CCA359563672RICTORc.2539C>G (p.Leu847Val)
c.499C>G (p.Leu167Val)
c.2491C>G (p.Leu831Val)
n.499C>G
c.*1763C>G (n.*1763C>G)
c.1684C>G (p.Leu562Val)
c.2350C>G (p.Leu784Val)
c.2380C>G (p.Leu794Val)
5g.38955665G=CA1540476103RICTORc.2539C= (p.Leu847=)
c.499C= (p.Leu167=)
c.2491C= (p.Leu831=)
n.499C=
c.*1763C= (n.*1763C=)
c.1684C= (p.Leu562=)
c.2350C= (p.Leu784=)
c.2380C= (p.Leu794=)
5g.38955665G>TCA359563674RICTORc.2539C>A (p.Leu847Ile)
c.499C>A (p.Leu167Ile)
c.2491C>A (p.Leu831Ile)
n.499C>A
c.*1763C>A (n.*1763C>A)
c.1684C>A (p.Leu562Ile)
c.2350C>A (p.Leu784Ile)
c.2380C>A (p.Leu794Ile)
gnomAD v4
5g.38955666T>ACA359563676RICTORc.2538A>T (p.Gln846His)
c.498A>T (p.Gln166His)
c.2490A>T (p.Gln830His)
n.498A>T
c.*1762A>T (n.*1762A>T)
c.1683A>T (p.Gln561His)
c.2349A>T (p.Gln783His)
c.2379A>T (p.Gln793His)
5g.38955666T>CCA443950972RICTORc.2538A>G (p.Gln846=)
c.498A>G (p.Gln166=)
c.2490A>G (p.Gln830=)
n.498A>G
c.*1762A>G (n.*1762A>G)
c.1683A>G (p.Gln561=)
c.2349A>G (p.Gln783=)
c.2379A>G (p.Gln793=)
5g.38955666T>GCA359563679RICTORc.2538A>C (p.Gln846His)
c.498A>C (p.Gln166His)
c.2490A>C (p.Gln830His)
n.498A>C
c.*1762A>C (n.*1762A>C)
c.1683A>C (p.Gln561His)
c.2349A>C (p.Gln783His)
c.2379A>C (p.Gln793His)
5g.38955667T>ACA359563682RICTORc.2537A>T (p.Gln846Leu)
c.497A>T (p.Gln166Leu)
c.2489A>T (p.Gln830Leu)
n.497A>T
c.*1761A>T (n.*1761A>T)
c.1682A>T (p.Gln561Leu)
c.2348A>T (p.Gln783Leu)
c.2378A>T (p.Gln793Leu)
5g.38955667T>CCA359563684RICTORc.2537A>G (p.Gln846Arg)
c.497A>G (p.Gln166Arg)
c.2489A>G (p.Gln830Arg)
n.497A>G
c.*1761A>G (n.*1761A>G)
c.1682A>G (p.Gln561Arg)
c.2348A>G (p.Gln783Arg)
c.2378A>G (p.Gln793Arg)
5g.38955667T>GCA359563686RICTORc.2537A>C (p.Gln846Pro)
c.497A>C (p.Gln166Pro)
c.2489A>C (p.Gln830Pro)
n.497A>C
c.*1761A>C (n.*1761A>C)
c.1682A>C (p.Gln561Pro)
c.2348A>C (p.Gln783Pro)
c.2378A>C (p.Gln793Pro)
5g.38955668G>ACA359563689RICTORc.2536C>T (p.Gln846Ter)
c.496C>T (p.Gln166Ter)
c.2488C>T (p.Gln830Ter)
n.496C>T
c.*1760C>T (n.*1760C>T)
c.1681C>T (p.Gln561Ter)
c.2347C>T (p.Gln783Ter)
c.2377C>T (p.Gln793Ter)
5g.38955668G>CCA359563691RICTORc.2536C>G (p.Gln846Glu)
c.496C>G (p.Gln166Glu)
c.2488C>G (p.Gln830Glu)
n.496C>G
c.*1760C>G (n.*1760C>G)
c.1681C>G (p.Gln561Glu)
c.2347C>G (p.Gln783Glu)
c.2377C>G (p.Gln793Glu)
5g.38955668G>TCA359563694RICTORc.2536C>A (p.Gln846Lys)
c.496C>A (p.Gln166Lys)
c.2488C>A (p.Gln830Lys)
n.496C>A
c.*1760C>A (n.*1760C>A)
c.1681C>A (p.Gln561Lys)
c.2347C>A (p.Gln783Lys)
c.2377C>A (p.Gln793Lys)
gnomAD v4
5g.38955669T>ACA359563697RICTORc.2535A>T (p.Glu845Asp)
c.495A>T (p.Glu165Asp)
c.2487A>T (p.Glu829Asp)
n.495A>T
c.*1759A>T (n.*1759A>T)
c.1680A>T (p.Glu560Asp)
c.2346A>T (p.Glu782Asp)
c.2376A>T (p.Glu792Asp)
5g.38955669T>CCA443950973RICTORc.2535A>G (p.Glu845=)
c.495A>G (p.Glu165=)
c.2487A>G (p.Glu829=)
n.495A>G
c.*1759A>G (n.*1759A>G)
c.1680A>G (p.Glu560=)
c.2346A>G (p.Glu782=)
c.2376A>G (p.Glu792=)
5g.38955669T>GCA359563699RICTORc.2535A>C (p.Glu845Asp)
c.495A>C (p.Glu165Asp)
c.2487A>C (p.Glu829Asp)
n.495A>C
c.*1759A>C (n.*1759A>C)
c.1680A>C (p.Glu560Asp)
c.2346A>C (p.Glu782Asp)
c.2376A>C (p.Glu792Asp)
5g.38955670delCA2673647091RICTORc.2535del (p.Glu845AspfsTer?)
c.495del (p.Glu165AspfsTer30)
c.2487del (p.Glu829AspfsTer?)
n.495del
c.*1759del (n.*1759del)
c.1680del (p.Glu560AspfsTer?)
c.2346del (p.Glu782AspfsTer?)
c.2376del (p.Glu792AspfsTer?)
gnomAD v4
5g.38955670T>ACA359563702RICTORc.2534A>T (p.Glu845Val)
c.494A>T (p.Glu165Val)
c.2486A>T (p.Glu829Val)
n.494A>T
c.*1758A>T (n.*1758A>T)
c.1679A>T (p.Glu560Val)
c.2345A>T (p.Glu782Val)
c.2375A>T (p.Glu792Val)
gnomAD v4
5g.38955670T>CCA359563706RICTORc.2534A>G (p.Glu845Gly)
c.494A>G (p.Glu165Gly)
c.2486A>G (p.Glu829Gly)
n.494A>G
c.*1758A>G (n.*1758A>G)
c.1679A>G (p.Glu560Gly)
c.2345A>G (p.Glu782Gly)
c.2375A>G (p.Glu792Gly)
5g.38955670T>GCA359563703RICTORc.2534A>C (p.Glu845Ala)
c.494A>C (p.Glu165Ala)
c.2486A>C (p.Glu829Ala)
n.494A>C
c.*1758A>C (n.*1758A>C)
c.1679A>C (p.Glu560Ala)
c.2345A>C (p.Glu782Ala)
c.2375A>C (p.Glu792Ala)
5g.38955671C>ACA359563708RICTORc.2533G>T (p.Glu845Ter)
c.493G>T (p.Glu165Ter)
c.2485G>T (p.Glu829Ter)
n.493G>T
c.*1757G>T (n.*1757G>T)
c.1678G>T (p.Glu560Ter)
c.2344G>T (p.Glu782Ter)
c.2374G>T (p.Glu792Ter)
gnomAD v4
5g.38955671C>GCA359563711RICTORc.2533G>C (p.Glu845Gln)
c.493G>C (p.Glu165Gln)
c.2485G>C (p.Glu829Gln)
n.493G>C
c.*1757G>C (n.*1757G>C)
c.1678G>C (p.Glu560Gln)
c.2344G>C (p.Glu782Gln)
c.2374G>C (p.Glu792Gln)
5g.38955671C>TCA359563712RICTORc.2533G>A (p.Glu845Lys)
c.493G>A (p.Glu165Lys)
c.2485G>A (p.Glu829Lys)
n.493G>A
c.*1757G>A (n.*1757G>A)
c.1678G>A (p.Glu560Lys)
c.2344G>A (p.Glu782Lys)
c.2374G>A (p.Glu792Lys)
gnomAD v4 COSMIC COSMIC
5g.38955672delCA2673647098RICTORc.2533del (p.Glu845AsnfsTer?)
c.493del (p.Glu165AsnfsTer30)
c.2485del (p.Glu829AsnfsTer?)
n.493del
c.*1757del (n.*1757del)
c.1678del (p.Glu560AsnfsTer?)
c.2344del (p.Glu782AsnfsTer?)
c.2374del (p.Glu792AsnfsTer?)
gnomAD v4
5g.38955672C>ACA359563715RICTORc.2532G>T (p.Glu844Asp)
c.492G>T (p.Glu164Asp)
c.2484G>T (p.Glu828Asp)
n.492G>T
c.*1756G>T (n.*1756G>T)
c.1677G>T (p.Glu559Asp)
c.2343G>T (p.Glu781Asp)
c.2373G>T (p.Glu791Asp)
5g.38955672C=CA1540476104RICTORc.2532G= (p.Glu844=)
c.492G= (p.Glu164=)
c.2484G= (p.Glu828=)
n.492G=
c.*1756G= (n.*1756G=)
c.1677G= (p.Glu559=)
c.2343G= (p.Glu781=)
c.2373G= (p.Glu791=)
5g.38955672C>GCA359563718RICTORc.2532G>C (p.Glu844Asp)
c.492G>C (p.Glu164Asp)
c.2484G>C (p.Glu828Asp)
n.492G>C
c.*1756G>C (n.*1756G>C)
c.1677G>C (p.Glu559Asp)
c.2343G>C (p.Glu781Asp)
c.2373G>C (p.Glu791Asp)
5g.38955672C>TCA3245103RICTORc.2532G>A (p.Glu844=)
c.492G>A (p.Glu164=)
c.2484G>A (p.Glu828=)
n.492G>A
c.*1756G>A (n.*1756G>A)
c.1677G>A (p.Glu559=)
c.2343G>A (p.Glu781=)
c.2373G>A (p.Glu791=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched