Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.38955546_38955613del | CA2673646936 | RICTOR | c.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 |
5 | g.38955568T>C | CA3245082 | RICTOR | c.2609+27A>G (n.2609+27A>G) c.569+27A>G (n.569+27A>G) c.2561+27A>G (n.2561+27A>G) n.569+27A>G c.*1833+27A>G (n.*1833+27A>G) c.1754+27A>G (n.1754+27A>G) c.2420+27A>G (n.2420+27A>G) c.2450+27A>G (n.2450+27A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.38955568T>G | CA559054381 | RICTOR | c.2609+27A>C (n.2609+27A>C) c.569+27A>C (n.569+27A>C) c.2561+27A>C (n.2561+27A>C) n.569+27A>C c.*1833+27A>C (n.*1833+27A>C) c.1754+27A>C (n.1754+27A>C) c.2420+27A>C (n.2420+27A>C) c.2450+27A>C (n.2450+27A>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.38955568T= | CA1540476066 | RICTOR | c.2609+27A= (n.2609+27A=) c.569+27A= (n.569+27A=) c.2561+27A= (n.2561+27A=) n.569+27A= c.*1833+27A= (n.*1833+27A=) c.1754+27A= (n.1754+27A=) c.2420+27A= (n.2420+27A=) c.2450+27A= (n.2450+27A=) | |
5 | g.38955570T>C | CA2673646952 | RICTOR | c.2609+25A>G (n.2609+25A>G) c.569+25A>G (n.569+25A>G) c.2561+25A>G (n.2561+25A>G) n.569+25A>G c.*1833+25A>G (n.*1833+25A>G) c.1754+25A>G (n.1754+25A>G) c.2420+25A>G (n.2420+25A>G) c.2450+25A>G (n.2450+25A>G) | gnomAD v4 |
5 | g.38955572A>G | CA2673646954 | RICTOR | c.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 |
5 | g.38955572A>T | CA2673646955 | RICTOR | c.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 |
5 | g.38955573A>T | CA2578295766 | RICTOR | c.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) | |
5 | g.38955574A>G | CA2578295767 | RICTOR | c.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 |
5 | g.38955575T>G | CA2708997515 | RICTOR | c.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 |
5 | g.38955576C>A | CA2673646957 | RICTOR | c.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 |
5 | g.38955576C= | CA1540476067 | RICTOR | c.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=) | |
5 | g.38955576C>G | CA3245083 | RICTOR | c.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 |
5 | g.38955577T>A | CA2673646958 | RICTOR | c.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 |
5 | g.38955577T>C | CA2673646960 | RICTOR | c.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 |
5 | g.38955578G>A | CA2673646962 | RICTOR | c.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 |
5 | g.38955578G>T | CA2673646961 | RICTOR | c.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 |
5 | g.38955579A= | CA1540476068 | RICTOR | c.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=) | |
5 | g.38955579A>C | CA2578295768 | RICTOR | c.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) | |
5 | g.38955579A>G | CA3245084 | RICTOR | c.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 |
5 | g.38955580T>C | CA2673646964 | RICTOR | c.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 |
5 | g.38955580dup | CA559054392 | RICTOR | c.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 |
5 | g.38955581A>G | CA2673646965 | RICTOR | c.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 |
5 | g.38955582A>G | CA2673646967 | RICTOR | c.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 |
5 | g.38955582A>T | CA2673646968 | RICTOR | c.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 |
5 | g.38955584_38955590del | CA2673646966 | RICTOR | c.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 |
5 | g.38955583C>T | CA2578295769 | RICTOR | c.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 |
5 | g.38955584T>C | CA2673646970 | RICTOR | c.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 |
5 | g.38955584T>G | CA2673646971 | RICTOR | c.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 |
5 | g.38955584_38955585delinsTG | CA1540476069 | RICTOR | c.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) | |
5 | g.38955585G>A | CA559054396 | RICTOR | c.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 |
5 | g.38955585G>C | CA117169844 | RICTOR | c.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 |
5 | g.38955585G= | CA1540476070 | RICTOR | c.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=) | |
5 | g.38955585G>T | CA2673646974 | RICTOR | c.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 |
5 | g.38955587del | CA3245085 | RICTOR | c.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 |
5 | g.38955586_38955587del | CA2673646978 | RICTOR | c.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 |
5 | g.38955586G>A | CA559054398 | RICTOR | c.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 |
5 | g.38955586G>C | CA2578295770 | RICTOR | c.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) | |
5 | g.38955586G= | CA1540476071 | RICTOR | c.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=) | |
5 | g.38955586G>T | CA2673646985 | RICTOR | c.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 |
5 | g.38955587G>A | CA2578295771 | RICTOR | c.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 |
5 | g.38955587G>T | CA2673646989 | RICTOR | c.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 |
5 | g.38955588T>C | CA2673646991 | RICTOR | c.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 |
5 | g.38955589A>G | CA2673646995 | RICTOR | c.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 |
5 | g.38955589A>T | CA2673646994 | RICTOR | c.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 |
5 | g.38955589_38955592delinsACGC | CA1540476072 | RICTOR | c.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) | |
5 | g.38955590C= | CA1540476073 | RICTOR | c.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=) | |
5 | g.38955590C>T | CA3245087 | RICTOR | c.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 |
5 | g.38955590_38955592del | CA3245086 | RICTOR | c.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 |
5 | g.38955591G>A | CA3245088 | RICTOR | c.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 |
5 | g.38955591G= | CA1540476074 | RICTOR | c.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=) | |
5 | g.38955591G>T | CA2673647000 | RICTOR | c.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 |
5 | g.38955592C>A | CA3245089 | RICTOR | c.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 |
5 | g.38955592C= | CA1540476075 | RICTOR | c.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=) | |
5 | g.38955592C>T | CA559054410 | RICTOR | c.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 |
5 | g.38955593A= | CA1540476076 | RICTOR | c.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=) | |
5 | g.38955593A>C | CA117169850 | RICTOR | c.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 |
5 | g.38955593A>G | CA359563296 | RICTOR | c.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 |
5 | g.38955593A>T | CA359563298 | RICTOR | c.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) | |
5 | g.38955594C>A | CA359563301 | RICTOR | c.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) | |
5 | g.38955594C>G | CA359563303 | RICTOR | c.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) | |
5 | g.38955594C>T | CA359563305 | RICTOR | c.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 |
5 | g.38955595C>A | CA359563309 | RICTOR | c.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) | |
5 | g.38955595C>G | CA359563310 | RICTOR | c.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) | |
5 | g.38955595C>T | CA359563312 | RICTOR | c.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 |
5 | g.38955596T>A | CA359563315 | RICTOR | c.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) | |
5 | g.38955596T>C | CA359563317 | RICTOR | c.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 |
5 | g.38955596T>G | CA443950925 | RICTOR | c.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=) | |
5 | g.38955598del | CA2673647013 | RICTOR | c.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 |
5 | g.38955597T>A | CA359563320 | RICTOR | c.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) | |
5 | g.38955597T>C | CA443950926 | RICTOR | c.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 |
5 | g.38955597T>G | CA359563322 | RICTOR | c.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) | |
5 | g.38955598T>A | CA359563325 | RICTOR | c.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) | |
5 | g.38955598T>C | CA359563327 | RICTOR | c.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 |
5 | g.38955598T>G | CA359563329 | RICTOR | c.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) | |
5 | g.38955599G>A | CA359563333 | RICTOR | c.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) | |
5 | g.38955599G>C | CA359563335 | RICTOR | c.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) | |
5 | g.38955599G>T | CA359563337 | RICTOR | c.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 |
5 | g.38955600G>A | CA3245090 | RICTOR | c.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 |
5 | g.38955600G>C | CA359563341 | RICTOR | c.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) | |
5 | g.38955600G= | CA1540476077 | RICTOR | c.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=) | |
5 | g.38955600G>T | CA359563342 | RICTOR | c.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 |
5 | g.38955601T>A | CA359563346 | RICTOR | c.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) | |
5 | g.38955601T>C | CA359563349 | RICTOR | c.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 |
5 | g.38955601T>G | CA359563351 | RICTOR | c.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) | |
5 | g.38955602T>A | CA359563354 | RICTOR | c.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) | |
5 | g.38955602T>C | CA359563358 | RICTOR | c.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 |
5 | g.38955602T>G | CA359563356 | RICTOR | c.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) | |
5 | g.38955603A>C | CA359563361 | RICTOR | c.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) | |
5 | g.38955603A>G | CA443950927 | RICTOR | c.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=) | |
5 | g.38955603A>T | CA359563363 | RICTOR | c.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) | |
5 | g.38955604C>A | CA359563366 | RICTOR | c.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) | |
5 | g.38955604C>G | CA359563368 | RICTOR | c.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) | |
5 | g.38955604C>T | CA359563370 | RICTOR | c.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 |
5 | g.38955605T>A | CA359563373 | RICTOR | c.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 |
5 | g.38955605T>C | CA3245091 | RICTOR | c.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 |
5 | g.38955605T>G | CA359563376 | RICTOR | c.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) | |
5 | g.38955605T= | CA1540476078 | RICTOR | c.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=) | |
5 | g.38955606C>A | CA443950928 | RICTOR | c.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 |
5 | g.38955606C= | CA1540476079 | RICTOR | c.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=) | |
5 | g.38955606C>G | CA443950930 | RICTOR | c.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=) | |
5 | g.38955606C>T | CA443950929 | RICTOR | c.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 |
5 | g.38955607C>A | CA359563377 | RICTOR | c.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) | |
5 | g.38955607C= | CA1540476080 | RICTOR | c.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=) | |
5 | g.38955607C>G | CA359563380 | RICTOR | c.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) | |
5 | g.38955607C>T | CA3245092 | RICTOR | c.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 |
5 | g.38955608G>A | CA3245093 | RICTOR | c.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 |
5 | g.38955608G>C | CA359563385 | RICTOR | c.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) | |
5 | g.38955608G= | CA1540476081 | RICTOR | c.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=) | |
5 | g.38955608G>T | CA443950931 | RICTOR | c.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 |
5 | g.38955609A>C | CA443950932 | RICTOR | c.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=) | |
5 | g.38955609A>G | CA443950933 | RICTOR | c.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=) | |
5 | g.38955609A>T | CA443950934 | RICTOR | c.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=) | |
5 | g.38955610C>A | CA359563393 | RICTOR | c.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) | |
5 | g.38955610C= | CA1540476082 | RICTOR | c.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=) | |
5 | g.38955610C>G | CA359563391 | RICTOR | c.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 |
5 | g.38955610C>T | CA359563388 | RICTOR | c.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 |
5 | g.38955611G>A | CA359563395 | RICTOR | c.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 |
5 | g.38955611G>C | CA359563398 | RICTOR | c.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) | |
5 | g.38955611G= | CA1540476083 | RICTOR | c.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=) | |
5 | g.38955611G>T | CA359563400 | RICTOR | c.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 |
5 | g.38955612A>C | CA443950935 | RICTOR | c.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=) | |
5 | g.38955612A>G | CA443950936 | RICTOR | c.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=) | |
5 | g.38955612A>T | CA443950937 | RICTOR | c.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=) | |
5 | g.38955613A= | CA1540476084 | RICTOR | c.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=) | |
5 | g.38955613A>C | CA359563402 | RICTOR | c.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) | |
5 | g.38955613A>G | CA359563404 | RICTOR | c.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) | |
5 | g.38955613A>T | CA359563406 | RICTOR | c.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) | |
5 | g.38955614C>A | CA359563411 | RICTOR | c.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) | |
5 | g.38955614C>G | CA359563413 | RICTOR | c.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) | |
5 | g.38955614C>T | CA359563415 | RICTOR | c.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) | |
5 | g.38955622_38955623insAACCATAGTTAT | CA3245094 | RICTOR | c.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 |
5 | g.38955615A= | CA1540476085 | RICTOR | c.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=) | |
5 | g.38955615A>C | CA359563419 | RICTOR | c.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) | |
5 | g.38955615A>G | CA443950938 | RICTOR | c.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 |
5 | g.38955615A>T | CA359563421 | RICTOR | c.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) | |
5 | g.38955616T>A | CA359563427 | RICTOR | c.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) | |
5 | g.38955616T>C | CA3245095 | RICTOR | c.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 |
5 | g.38955616T>G | CA359563424 | RICTOR | c.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) | |
5 | g.38955616T= | CA1540476086 | RICTOR | c.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=) | |
5 | g.38955617A>C | CA359563430 | RICTOR | c.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) | |
5 | g.38955617A>G | CA359563432 | RICTOR | c.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) | |
5 | g.38955617A>T | CA359563435 | RICTOR | c.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 |
5 | g.38955618G>A | CA443950939 | RICTOR | c.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=) | |
5 | g.38955618G>C | CA359563437 | RICTOR | c.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) | |
5 | g.38955618G>T | CA359563439 | RICTOR | c.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 |
5 | g.38955619T>A | CA359563441 | RICTOR | c.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) | |
5 | g.38955619T>C | CA359563443 | RICTOR | c.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) | |
5 | g.38955619T>G | CA359563446 | RICTOR | c.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) | |
5 | g.38955619T= | CA1540476087 | RICTOR | c.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=) | |
5 | g.38955620del | CA2578295772 | RICTOR | c.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) | |
5 | g.38955619_38955620insG | CA810466071 | RICTOR | c.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 |
5 | g.38955620T>A | CA117169897 | RICTOR | c.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 |
5 | g.38955620T>C | CA359563450 | RICTOR | c.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) | |
5 | g.38955620T>G | CA359563452 | RICTOR | c.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) | |
5 | g.38955620T= | CA1540476088 | RICTOR | c.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=) | |
5 | g.38955621A>C | CA359563455 | RICTOR | c.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) | |
5 | g.38955621A>G | CA443950940 | RICTOR | c.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=) | |
5 | g.38955621A>T | CA359563457 | RICTOR | c.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) | |
5 | g.38955622T>A | CA359563464 | RICTOR | c.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) | |
5 | g.38955622T>C | CA359563460 | RICTOR | c.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 |
5 | g.38955622T>G | CA359563462 | RICTOR | c.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) | |
5 | g.38955623C>A | CA359563467 | RICTOR | c.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 |
5 | g.38955623C>G | CA359563469 | RICTOR | c.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) | |
5 | g.38955623C>T | CA359563471 | RICTOR | c.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) | |
5 | g.38955624A>C | CA443950941 | RICTOR | c.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=) | |
5 | g.38955624A>G | CA443950942 | RICTOR | c.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=) | |
5 | g.38955624A>T | CA443950943 | RICTOR | c.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=) | |
5 | g.38955625C>A | CA359563474 | RICTOR | c.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) | |
5 | g.38955625C>G | CA359563477 | RICTOR | c.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) | |
5 | g.38955625C>T | CA359563479 | RICTOR | c.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 |
5 | g.38955626C>A | CA359563482 | RICTOR | c.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) | |
5 | g.38955626C= | CA1540476089 | RICTOR | c.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=) | |
5 | g.38955626C>G | CA359563484 | RICTOR | c.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) | |
5 | g.38955626C>T | CA3245096 | RICTOR | c.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 |
5 | g.38955627A= | CA1540476090 | RICTOR | c.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=) | |
5 | g.38955627A>C | CA359563487 | RICTOR | c.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) | |
5 | g.38955627A>G | CA3245097 | RICTOR | c.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 |
5 | g.38955627A>T | CA359563491 | RICTOR | c.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) | |
5 | g.38955628T>A | CA359563497 | RICTOR | c.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) | |
5 | g.38955628T>C | CA359563499 | RICTOR | c.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 |
5 | g.38955628T>G | CA359563495 | RICTOR | c.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) | |
5 | g.38955629C>A | CA359563503 | RICTOR | c.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) | |
5 | g.38955629C= | CA1540476091 | RICTOR | c.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=) | |
5 | g.38955629C>G | CA359563502 | RICTOR | c.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) | |
5 | g.38955629C>T | CA359563506 | RICTOR | c.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 |
5 | g.38955630A>C | CA443950944 | RICTOR | c.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=) | |
5 | g.38955630A>G | CA443950945 | RICTOR | c.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 |
5 | g.38955630A>T | CA443950946 | RICTOR | c.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=) | |
5 | g.38955631A>C | CA359563509 | RICTOR | c.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) | |
5 | g.38955631A>G | CA359563512 | RICTOR | c.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 |
5 | g.38955631A>T | CA359563511 | RICTOR | c.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) | |
5 | g.38955632C>A | CA359563516 | RICTOR | c.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) | |
5 | g.38955632C= | CA1540476092 | RICTOR | c.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=) | |
5 | g.38955632C>G | CA359563517 | RICTOR | c.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 |
5 | g.38955632C>T | CA359563518 | RICTOR | c.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 |
5 | g.38955633A>C | CA443950947 | RICTOR | c.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 |
5 | g.38955633A>G | CA443950948 | RICTOR | c.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 |
5 | g.38955633A>T | CA443950949 | RICTOR | c.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=) | |
5 | g.38955634G>A | CA359563521 | RICTOR | c.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) | |
5 | g.38955634G>C | CA359563523 | RICTOR | c.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) | |
5 | g.38955634G>T | CA359563524 | RICTOR | c.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) | |
5 | g.38955635G>A | CA359563528 | RICTOR | c.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 |
5 | g.38955635G>C | CA359563530 | RICTOR | c.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) | |
5 | g.38955635G>T | CA359563532 | RICTOR | c.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 |
5 | g.38955636C>A | CA359563535 | RICTOR | c.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) | |
5 | g.38955636C= | CA1540476093 | RICTOR | c.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=) | |
5 | g.38955636C>G | CA359563537 | RICTOR | c.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 |
5 | g.38955636C>T | CA3245098 | RICTOR | c.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 |
5 | g.38955637T>A | CA359563545 | RICTOR | c.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) | |
5 | g.38955637T>C | CA359563541 | RICTOR | c.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) | |
5 | g.38955637T>G | CA359563543 | RICTOR | c.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) | |
5 | g.38955638T>A | CA359563546 | RICTOR | c.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) | |
5 | g.38955638T>C | CA359563548 | RICTOR | c.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 |
5 | g.38955638T>G | CA359563550 | RICTOR | c.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) | |
5 | g.38955638T= | CA1540476094 | RICTOR | c.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=) | |
5 | g.38955639C>A | CA443950950 | RICTOR | c.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=) | |
5 | g.38955639C>G | CA443950951 | RICTOR | c.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=) | |
5 | g.38955639C>T | CA443950952 | RICTOR | c.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=) | |
5 | g.38955640C>A | CA359563554 | RICTOR | c.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) | |
5 | g.38955640C= | CA1540476095 | RICTOR | c.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=) | |
5 | g.38955640C>G | CA359563556 | RICTOR | c.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) | |
5 | g.38955640C>T | CA3245099 | RICTOR | c.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 |
5 | g.38955641G>A | CA3245100 | RICTOR | c.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 |
5 | g.38955641G>C | CA359563561 | RICTOR | c.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) | |
5 | g.38955641G= | CA1540476096 | RICTOR | c.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=) | |
5 | g.38955641G>T | CA443950953 | RICTOR | c.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 |
5 | g.38955642G>A | CA443950954 | RICTOR | c.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 |
5 | g.38955642G>C | CA359563564 | RICTOR | c.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 |
5 | g.38955642G= | CA1540476097 | RICTOR | c.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=) | |
5 | g.38955642G>T | CA359563566 | RICTOR | c.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) | |
5 | g.38955643T>A | CA359563571 | RICTOR | c.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) | |
5 | g.38955643T>C | CA359563569 | RICTOR | c.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) | |
5 | g.38955643T>G | CA359563568 | RICTOR | c.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) | |
5 | g.38955644A>C | CA359563574 | RICTOR | c.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) | |
5 | g.38955644A>G | CA359563575 | RICTOR | c.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) | |
5 | g.38955644A>T | CA359563577 | RICTOR | c.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) | |
5 | g.38955645A>C | CA443950955 | RICTOR | c.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=) | |
5 | g.38955645A>G | CA443950956 | RICTOR | c.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 |
5 | g.38955645A>T | CA443950957 | RICTOR | c.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=) | |
5 | g.38955646G>A | CA359563580 | RICTOR | c.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 |
5 | g.38955646G>C | CA359563582 | RICTOR | c.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) | |
5 | g.38955646G>T | CA359563584 | RICTOR | c.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 |
5 | g.38955647T>A | CA359563587 | RICTOR | c.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) | |
5 | g.38955647T>C | CA3245101 | RICTOR | c.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 |
5 | g.38955647T>G | CA359563591 | RICTOR | c.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) | |
5 | g.38955647T= | CA1540476098 | RICTOR | c.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=) | |
5 | g.38955648A>C | CA443950958 | RICTOR | c.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=) | |
5 | g.38955648A>G | CA443950959 | RICTOR | c.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 |
5 | g.38955648A>T | CA443950960 | RICTOR | c.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=) | |
5 | g.38955649G>A | CA359563594 | RICTOR | c.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 |
5 | g.38955649G>C | CA359563595 | RICTOR | c.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) | |
5 | g.38955649G>T | CA359563597 | RICTOR | c.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 |
5 | g.38955650del | CA2578295773 | RICTOR | c.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?) | |
5 | g.38955650T>A | CA359563603 | RICTOR | c.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 |
5 | g.38955650T>C | CA3245102 | RICTOR | c.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 |
5 | g.38955650T>G | CA359563601 | RICTOR | c.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) | |
5 | g.38955650T= | CA1540476099 | RICTOR | c.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=) | |
5 | g.38955651A>C | CA443950961 | RICTOR | c.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=) | |
5 | g.38955651A>G | CA443950962 | RICTOR | c.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=) | |
5 | g.38955651A>T | CA443950963 | RICTOR | c.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=) | |
5 | g.38955652A>C | CA359563606 | RICTOR | c.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) | |
5 | g.38955652A>G | CA359563608 | RICTOR | c.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) | |
5 | g.38955652A>T | CA359563610 | RICTOR | c.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) | |
5 | g.38955653G>A | CA359563611 | RICTOR | c.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) | |
5 | g.38955653G>C | CA359563613 | RICTOR | c.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) | |
5 | g.38955653G>T | CA359563615 | RICTOR | c.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) | |
5 | g.38955654T>A | CA443950964 | RICTOR | c.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=) | |
5 | g.38955654T>C | CA443950965 | RICTOR | c.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=) | |
5 | g.38955654T>G | CA443950966 | RICTOR | c.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=) | |
5 | g.38955655G>A | CA359563618 | RICTOR | c.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 |
5 | g.38955655G>C | CA359563619 | RICTOR | c.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) | |
5 | g.38955655G= | CA1540476100 | RICTOR | c.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=) | |
5 | g.38955655G>T | CA359563621 | RICTOR | c.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 |
5 | g.38955656C>A | CA359563623 | RICTOR | c.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 |
5 | g.38955656C>G | CA359563624 | RICTOR | c.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) | |
5 | g.38955656C>T | CA359563625 | RICTOR | c.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 |
5 | g.38955657T>A | CA359563630 | RICTOR | c.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) | |
5 | g.38955657T>C | CA443950967 | RICTOR | c.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=) | |
5 | g.38955657T>G | CA359563628 | RICTOR | c.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) | |
5 | g.38955658T>A | CA359563632 | RICTOR | c.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) | |
5 | g.38955658T>C | CA359563634 | RICTOR | c.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) | |
5 | g.38955658T>G | CA359563636 | RICTOR | c.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) | |
5 | g.38955659C>A | CA359563638 | RICTOR | c.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) | |
5 | g.38955659C>G | CA359563640 | RICTOR | c.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) | |
5 | g.38955659C>T | CA359563641 | RICTOR | c.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) | |
5 | g.38955660A>C | CA359563646 | RICTOR | c.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) | |
5 | g.38955660A>G | CA443950968 | RICTOR | c.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=) | |
5 | g.38955660A>T | CA359563644 | RICTOR | c.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) | |
5 | g.38955661T>A | CA359563649 | RICTOR | c.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) | |
5 | g.38955661T>C | CA359563651 | RICTOR | c.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 |
5 | g.38955661T>G | CA359563653 | RICTOR | c.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) | |
5 | g.38955661T= | CA1540476101 | RICTOR | c.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=) | |
5 | g.38955662T>A | CA359563656 | RICTOR | c.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) | |
5 | g.38955662T>C | CA359563659 | RICTOR | c.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) | |
5 | g.38955662T>G | CA359563661 | RICTOR | c.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 |
5 | g.38955663G>A | CA443950969 | RICTOR | c.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 |
5 | g.38955663G>C | CA443950970 | RICTOR | c.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 |
5 | g.38955663G= | CA1540476102 | RICTOR | c.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=) | |
5 | g.38955663G>T | CA443950971 | RICTOR | c.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 |
5 | g.38955664A>C | CA359563667 | RICTOR | c.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) | |
5 | g.38955664A>G | CA359563663 | RICTOR | c.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) | |
5 | g.38955664A>T | CA359563665 | RICTOR | c.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) | |
5 | g.38955665G>A | CA359563670 | RICTOR | c.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 |
5 | g.38955665G>C | CA359563672 | RICTOR | c.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) | |
5 | g.38955665G= | CA1540476103 | RICTOR | c.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=) | |
5 | g.38955665G>T | CA359563674 | RICTOR | c.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 |
5 | g.38955666T>A | CA359563676 | RICTOR | c.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) | |
5 | g.38955666T>C | CA443950972 | RICTOR | c.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=) | |
5 | g.38955666T>G | CA359563679 | RICTOR | c.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) | |
5 | g.38955667T>A | CA359563682 | RICTOR | c.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) | |
5 | g.38955667T>C | CA359563684 | RICTOR | c.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) | |
5 | g.38955667T>G | CA359563686 | RICTOR | c.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) | |
5 | g.38955668G>A | CA359563689 | RICTOR | c.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) | |
5 | g.38955668G>C | CA359563691 | RICTOR | c.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) | |
5 | g.38955668G>T | CA359563694 | RICTOR | c.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 |