UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.140551288_140551300del | CA2782463250 | AGO2 | c.1403+3_1403+15del (n.1403+3_1403+15del) c.*988+3_*988+15del (n.*988+3_*988+15del) c.1490+3_1490+15del (n.1490+3_1490+15del) c.1445+3_1445+15del (n.1445+3_1445+15del) c.1265+3_1265+15del (n.1265+3_1265+15del) c.1172+3_1172+15del (n.1172+3_1172+15del) c.1580+3_1580+15del (n.1580+3_1580+15del) | |
| 8 | g.140551299T>A | CA2688748937 | AGO2 | c.1403+4A>T (n.1403+4A>T) c.*988+4A>T (n.*988+4A>T) c.1490+4A>T (n.1490+4A>T) c.1445+4A>T (n.1445+4A>T) c.1265+4A>T (n.1265+4A>T) c.1172+4A>T (n.1172+4A>T) c.1580+4A>T (n.1580+4A>T) | gnomAD v4 |
| 8 | g.140551299T>C | CA2688748940 | AGO2 | c.1403+4A>G (n.1403+4A>G) c.*988+4A>G (n.*988+4A>G) c.1490+4A>G (n.1490+4A>G) c.1445+4A>G (n.1445+4A>G) c.1265+4A>G (n.1265+4A>G) c.1172+4A>G (n.1172+4A>G) c.1580+4A>G (n.1580+4A>G) | gnomAD v4 |
| 8 | g.140551299T>G | CA2688748941 | AGO2 | c.1403+4A>C (n.1403+4A>C) c.*988+4A>C (n.*988+4A>C) c.1490+4A>C (n.1490+4A>C) c.1445+4A>C (n.1445+4A>C) c.1265+4A>C (n.1265+4A>C) c.1172+4A>C (n.1172+4A>C) c.1580+4A>C (n.1580+4A>C) | gnomAD v4 |
| 8 | g.140551300del | CA2688748936 | AGO2 | c.1403+4del (n.1403+4del) c.*988+4del (n.*988+4del) c.1490+4del (n.1490+4del) c.1445+4del (n.1445+4del) c.1265+4del (n.1265+4del) c.1172+4del (n.1172+4del) c.1580+4del (n.1580+4del) | gnomAD v4 |
| 8 | g.140551300T>C | CA2688748942 | AGO2 | c.1403+3A>G (n.1403+3A>G) c.*988+3A>G (n.*988+3A>G) c.1490+3A>G (n.1490+3A>G) c.1445+3A>G (n.1445+3A>G) c.1265+3A>G (n.1265+3A>G) c.1172+3A>G (n.1172+3A>G) c.1580+3A>G (n.1580+3A>G) | gnomAD v4 |
| 8 | g.140551300T>G | CA2688748943 | AGO2 | c.1403+3A>C (n.1403+3A>C) c.*988+3A>C (n.*988+3A>C) c.1490+3A>C (n.1490+3A>C) c.1445+3A>C (n.1445+3A>C) c.1265+3A>C (n.1265+3A>C) c.1172+3A>C (n.1172+3A>C) c.1580+3A>C (n.1580+3A>C) | gnomAD v4 |
| 8 | g.140551301A= | CA1824690603 | AGO2 | c.1403+2T= (n.1403+2T=) c.*988+2T= (n.*988+2T=) c.1490+2T= (n.1490+2T=) c.1445+2T= (n.1445+2T=) c.1265+2T= (n.1265+2T=) c.1172+2T= (n.1172+2T=) c.1580+2T= (n.1580+2T=) | |
| 8 | g.140551301A>C | CA372320248 | AGO2 | c.1403+2T>G (n.1403+2T>G) c.*988+2T>G (n.*988+2T>G) c.1490+2T>G (n.1490+2T>G) c.1445+2T>G (n.1445+2T>G) c.1265+2T>G (n.1265+2T>G) c.1172+2T>G (n.1172+2T>G) c.1580+2T>G (n.1580+2T>G) | gnomAD v4 |
| 8 | g.140551301A>G | CA372320247 | AGO2 | c.1403+2T>C (n.1403+2T>C) c.*988+2T>C (n.*988+2T>C) c.1490+2T>C (n.1490+2T>C) c.1445+2T>C (n.1445+2T>C) c.1265+2T>C (n.1265+2T>C) c.1172+2T>C (n.1172+2T>C) c.1580+2T>C (n.1580+2T>C) | |
| 8 | g.140551301A>T | CA4894436 | AGO2 | c.1403+2T>A (n.1403+2T>A) c.*988+2T>A (n.*988+2T>A) c.1490+2T>A (n.1490+2T>A) c.1445+2T>A (n.1445+2T>A) c.1265+2T>A (n.1265+2T>A) c.1172+2T>A (n.1172+2T>A) c.1580+2T>A (n.1580+2T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.140551302C>A | CA372320249 | AGO2 | c.1403+1G>T (n.1403+1G>T) c.*988+1G>T (n.*988+1G>T) c.1490+1G>T (n.1490+1G>T) c.1445+1G>T (n.1445+1G>T) c.1265+1G>T (n.1265+1G>T) c.1172+1G>T (n.1172+1G>T) c.1580+1G>T (n.1580+1G>T) | gnomAD v4 |
| 8 | g.140551302C= | CA1824690605 | AGO2 | c.1403+1G= (n.1403+1G=) c.*988+1G= (n.*988+1G=) c.1490+1G= (n.1490+1G=) c.1445+1G= (n.1445+1G=) c.1265+1G= (n.1265+1G=) c.1172+1G= (n.1172+1G=) c.1580+1G= (n.1580+1G=) | |
| 8 | g.140551302C>G | CA372320250 | AGO2 | c.1403+1G>C (n.1403+1G>C) c.*988+1G>C (n.*988+1G>C) c.1490+1G>C (n.1490+1G>C) c.1445+1G>C (n.1445+1G>C) c.1265+1G>C (n.1265+1G>C) c.1172+1G>C (n.1172+1G>C) c.1580+1G>C (n.1580+1G>C) | |
| 8 | g.140551302C>T | CA4894437 | AGO2 | c.1403+1G>A (n.1403+1G>A) c.*988+1G>A (n.*988+1G>A) c.1490+1G>A (n.1490+1G>A) c.1445+1G>A (n.1445+1G>A) c.1265+1G>A (n.1265+1G>A) c.1172+1G>A (n.1172+1G>A) c.1580+1G>A (n.1580+1G>A) | dbSNP ExAC |
| 8 | g.140551303T>A | CA372320253 | AGO2 | c.1403A>T (p.Lys468Met) c.*988A>T (n.*988A>T) c.1490A>T (p.Lys497Met) c.1445A>T (p.Lys482Met) c.1265A>T (p.Lys422Met) c.1172A>T (p.Lys391Met) c.1580A>T (p.Lys527Met) | |
| 8 | g.140551303T>C | CA372320252 | AGO2 | c.1403A>G (p.Lys468Arg) c.*988A>G (n.*988A>G) c.1490A>G (p.Lys497Arg) c.1445A>G (p.Lys482Arg) c.1265A>G (p.Lys422Arg) c.1172A>G (p.Lys391Arg) c.1580A>G (p.Lys527Arg) | gnomAD v4 |
| 8 | g.140551303T>G | CA372320251 | AGO2 | c.1403A>C (p.Lys468Thr) c.*988A>C (n.*988A>C) c.1490A>C (p.Lys497Thr) c.1445A>C (p.Lys482Thr) c.1265A>C (p.Lys422Thr) c.1172A>C (p.Lys391Thr) c.1580A>C (p.Lys527Thr) | gnomAD v4 |
| 8 | g.140551304del | CA2688748946 | AGO2 | c.1403del (p.Lys468SerfsTer?) c.*988del (n.*988del) c.1490del (p.Lys497SerfsTer?) c.1445del (p.Lys482SerfsTer?) c.1265del (p.Lys422SerfsTer?) c.1172del (p.Lys391SerfsTer?) c.1580del (p.Lys527SerfsTer?) | gnomAD v4 |
| 8 | g.140551304T>A | CA372320254 | AGO2 | c.1402A>T (p.Lys468Ter) c.*987A>T (n.*987A>T) c.1489A>T (p.Lys497Ter) c.1444A>T (p.Lys482Ter) c.1264A>T (p.Lys422Ter) c.1171A>T (p.Lys391Ter) c.1579A>T (p.Lys527Ter) | |
| 8 | g.140551304T>C | CA372320255 | AGO2 | c.1402A>G (p.Lys468Glu) c.*987A>G (n.*987A>G) c.1489A>G (p.Lys497Glu) c.1444A>G (p.Lys482Glu) c.1264A>G (p.Lys422Glu) c.1171A>G (p.Lys391Glu) c.1579A>G (p.Lys527Glu) | gnomAD v4 |
| 8 | g.140551304T>G | CA372320256 | AGO2 | c.1402A>C (p.Lys468Gln) c.*987A>C (n.*987A>C) c.1489A>C (p.Lys497Gln) c.1444A>C (p.Lys482Gln) c.1264A>C (p.Lys422Gln) c.1171A>C (p.Lys391Gln) c.1579A>C (p.Lys527Gln) | gnomAD v4 |
| 8 | g.140551305C>A | CA463242906 | AGO2 | c.1401G>T (p.Leu467=) c.*986G>T (n.*986G>T) c.1488G>T (p.Leu496=) c.1443G>T (p.Leu481=) c.1263G>T (p.Leu421=) c.1170G>T (p.Leu390=) c.1578G>T (p.Leu526=) | gnomAD v4 |
| 8 | g.140551305C= | CA1824690607 | AGO2 | c.1401G= (p.Leu467=) c.*986G= (n.*986G=) c.1488G= (p.Leu496=) c.1443G= (p.Leu481=) c.1263G= (p.Leu421=) c.1170G= (p.Leu390=) c.1578G= (p.Leu526=) | |
| 8 | g.140551305C>G | CA463242907 | AGO2 | c.1401G>C (p.Leu467=) c.*986G>C (n.*986G>C) c.1488G>C (p.Leu496=) c.1443G>C (p.Leu481=) c.1263G>C (p.Leu421=) c.1170G>C (p.Leu390=) c.1578G>C (p.Leu526=) | |
| 8 | g.140551305C>T | CA463242908 | AGO2 | c.1401G>A (p.Leu467=) c.*986G>A (n.*986G>A) c.1488G>A (p.Leu496=) c.1443G>A (p.Leu481=) c.1263G>A (p.Leu421=) c.1170G>A (p.Leu390=) c.1578G>A (p.Leu526=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.140551306A>C | CA372320257 | AGO2 | c.1400T>G (p.Leu467Arg) c.*985T>G (n.*985T>G) c.1487T>G (p.Leu496Arg) c.1442T>G (p.Leu481Arg) c.1262T>G (p.Leu421Arg) c.1169T>G (p.Leu390Arg) c.1577T>G (p.Leu526Arg) | gnomAD v4 |
| 8 | g.140551306A>G | CA372320258 | AGO2 | c.1400T>C (p.Leu467Pro) c.*985T>C (n.*985T>C) c.1487T>C (p.Leu496Pro) c.1442T>C (p.Leu481Pro) c.1262T>C (p.Leu421Pro) c.1169T>C (p.Leu390Pro) c.1577T>C (p.Leu526Pro) | gnomAD v4 |
| 8 | g.140551306A>T | CA372320259 | AGO2 | c.1400T>A (p.Leu467Gln) c.*985T>A (n.*985T>A) c.1487T>A (p.Leu496Gln) c.1442T>A (p.Leu481Gln) c.1262T>A (p.Leu421Gln) c.1169T>A (p.Leu390Gln) c.1577T>A (p.Leu526Gln) | |
| 8 | g.140551307G>A | CA4894438 | AGO2 | c.1399C>T (p.Leu467=) c.*984C>T (n.*984C>T) c.1486C>T (p.Leu496=) c.1441C>T (p.Leu481=) c.1261C>T (p.Leu421=) c.1168C>T (p.Leu390=) c.1576C>T (p.Leu526=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.140551307G>C | CA372320261 | AGO2 | c.1399C>G (p.Leu467Val) c.*984C>G (n.*984C>G) c.1486C>G (p.Leu496Val) c.1441C>G (p.Leu481Val) c.1261C>G (p.Leu421Val) c.1168C>G (p.Leu390Val) c.1576C>G (p.Leu526Val) | |
| 8 | g.140551307G= | CA1824690610 | AGO2 | c.1399C= (p.Leu467=) c.*984C= (n.*984C=) c.1486C= (p.Leu496=) c.1441C= (p.Leu481=) c.1261C= (p.Leu421=) c.1168C= (p.Leu390=) c.1576C= (p.Leu526=) | |
| 8 | g.140551307G>T | CA372320260 | AGO2 | c.1399C>A (p.Leu467Met) c.*984C>A (n.*984C>A) c.1486C>A (p.Leu496Met) c.1441C>A (p.Leu481Met) c.1261C>A (p.Leu421Met) c.1168C>A (p.Leu390Met) c.1576C>A (p.Leu526Met) | |
| 8 | g.140551308A>C | CA372320262 | AGO2 | c.1398T>G (p.His466Gln) c.*983T>G (n.*983T>G) c.1485T>G (p.His495Gln) c.1440T>G (p.His480Gln) c.1260T>G (p.His420Gln) c.1167T>G (p.His389Gln) c.1575T>G (p.His525Gln) | gnomAD v4 |
| 8 | g.140551308A>G | CA463242910 | AGO2 | c.1398T>C (p.His466=) c.*983T>C (n.*983T>C) c.1485T>C (p.His495=) c.1440T>C (p.His480=) c.1260T>C (p.His420=) c.1167T>C (p.His389=) c.1575T>C (p.His525=) | gnomAD v4 |
| 8 | g.140551308A>T | CA372320263 | AGO2 | c.1398T>A (p.His466Gln) c.*983T>A (n.*983T>A) c.1485T>A (p.His495Gln) c.1440T>A (p.His480Gln) c.1260T>A (p.His420Gln) c.1167T>A (p.His389Gln) c.1575T>A (p.His525Gln) | |
| 8 | g.140551309T>A | CA372320264 | AGO2 | c.1397A>T (p.His466Leu) c.*982A>T (n.*982A>T) c.1484A>T (p.His495Leu) c.1439A>T (p.His480Leu) c.1259A>T (p.His420Leu) c.1166A>T (p.His389Leu) c.1574A>T (p.His525Leu) | |
| 8 | g.140551309T>C | CA372320265 | AGO2 | c.1397A>G (p.His466Arg) c.*982A>G (n.*982A>G) c.1484A>G (p.His495Arg) c.1439A>G (p.His480Arg) c.1259A>G (p.His420Arg) c.1166A>G (p.His389Arg) c.1574A>G (p.His525Arg) | gnomAD v4 COSMIC |
| 8 | g.140551309T>G | CA372320266 | AGO2 | c.1397A>C (p.His466Pro) c.*982A>C (n.*982A>C) c.1484A>C (p.His495Pro) c.1439A>C (p.His480Pro) c.1259A>C (p.His420Pro) c.1166A>C (p.His389Pro) c.1574A>C (p.His525Pro) | gnomAD v4 |
| 8 | g.140551310G>A | CA372320267 | AGO2 | c.1396C>T (p.His466Tyr) c.*981C>T (n.*981C>T) c.1483C>T (p.His495Tyr) c.1438C>T (p.His480Tyr) c.1258C>T (p.His420Tyr) c.1165C>T (p.His389Tyr) c.1573C>T (p.His525Tyr) | gnomAD v4 |
| 8 | g.140551310G>C | CA372320268 | AGO2 | c.1396C>G (p.His466Asp) c.*981C>G (n.*981C>G) c.1483C>G (p.His495Asp) c.1438C>G (p.His480Asp) c.1258C>G (p.His420Asp) c.1165C>G (p.His389Asp) c.1573C>G (p.His525Asp) | |
| 8 | g.140551310G>T | CA372320269 | AGO2 | c.1396C>A (p.His466Asn) c.*981C>A (n.*981C>A) c.1483C>A (p.His495Asn) c.1438C>A (p.His480Asn) c.1258C>A (p.His420Asn) c.1165C>A (p.His389Asn) c.1573C>A (p.His525Asn) | gnomAD v4 |
| 8 | g.140551311del | CA2782463253 | AGO2 | c.1396del (p.His466IlefsTer2) c.*981del (n.*981del) c.1483del (p.His495IlefsTer2) c.1438del (p.His480IlefsTer2) c.1258del (p.His420IlefsTer2) c.1165del (p.His389IlefsTer2) c.1573del (p.His525IlefsTer2) | |
| 8 | g.140551311G>A | CA463242912 | AGO2 | c.1395C>T (p.Val465=) c.*980C>T (n.*980C>T) c.1482C>T (p.Val494=) c.1437C>T (p.Val479=) c.1257C>T (p.Val419=) c.1164C>T (p.Val388=) c.1572C>T (p.Val524=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.140551311G>C | CA463242913 | AGO2 | c.1395C>G (p.Val465=) c.*980C>G (n.*980C>G) c.1482C>G (p.Val494=) c.1437C>G (p.Val479=) c.1257C>G (p.Val419=) c.1164C>G (p.Val388=) c.1572C>G (p.Val524=) | |
| 8 | g.140551311G= | CA1824690612 | AGO2 | c.1395C= (p.Val465=) c.*980C= (n.*980C=) c.1482C= (p.Val494=) c.1437C= (p.Val479=) c.1257C= (p.Val419=) c.1164C= (p.Val388=) c.1572C= (p.Val524=) | |
| 8 | g.140551311G>T | CA463242911 | AGO2 | c.1395C>A (p.Val465=) c.*980C>A (n.*980C>A) c.1482C>A (p.Val494=) c.1437C>A (p.Val479=) c.1257C>A (p.Val419=) c.1164C>A (p.Val388=) c.1572C>A (p.Val524=) | gnomAD v4 |
| 8 | g.140551312A>C | CA372320270 | AGO2 | c.1394T>G (p.Val465Gly) c.*979T>G (n.*979T>G) c.1481T>G (p.Val494Gly) c.1436T>G (p.Val479Gly) c.1256T>G (p.Val419Gly) c.1163T>G (p.Val388Gly) c.1571T>G (p.Val524Gly) | |
| 8 | g.140551312A>G | CA372320271 | AGO2 | c.1394T>C (p.Val465Ala) c.*979T>C (n.*979T>C) c.1481T>C (p.Val494Ala) c.1436T>C (p.Val479Ala) c.1256T>C (p.Val419Ala) c.1163T>C (p.Val388Ala) c.1571T>C (p.Val524Ala) | gnomAD v4 |
| 8 | g.140551312A>T | CA372320272 | AGO2 | c.1394T>A (p.Val465Asp) c.*979T>A (n.*979T>A) c.1481T>A (p.Val494Asp) c.1436T>A (p.Val479Asp) c.1256T>A (p.Val419Asp) c.1163T>A (p.Val388Asp) c.1571T>A (p.Val524Asp) | |
| 8 | g.140551313C>A | CA372320274 | AGO2 | c.1393G>T (p.Val465Phe) c.*978G>T (n.*978G>T) c.1480G>T (p.Val494Phe) c.1435G>T (p.Val479Phe) c.1255G>T (p.Val419Phe) c.1162G>T (p.Val388Phe) c.1570G>T (p.Val524Phe) | gnomAD v4 |
| 8 | g.140551313C>G | CA372320275 | AGO2 | c.1393G>C (p.Val465Leu) c.*978G>C (n.*978G>C) c.1480G>C (p.Val494Leu) c.1435G>C (p.Val479Leu) c.1255G>C (p.Val419Leu) c.1162G>C (p.Val388Leu) c.1570G>C (p.Val524Leu) | |
| 8 | g.140551313C>T | CA372320273 | AGO2 | c.1393G>A (p.Val465Ile) c.*978G>A (n.*978G>A) c.1480G>A (p.Val494Ile) c.1435G>A (p.Val479Ile) c.1255G>A (p.Val419Ile) c.1162G>A (p.Val388Ile) c.1570G>A (p.Val524Ile) | |
| 8 | g.140551314T>A | CA372320277 | AGO2 | c.1392A>T (p.Glu464Asp) c.*977A>T (n.*977A>T) c.1479A>T (p.Glu493Asp) c.1434A>T (p.Glu478Asp) c.1254A>T (p.Glu418Asp) c.1161A>T (p.Glu387Asp) c.1569A>T (p.Glu523Asp) | |
| 8 | g.140551314T>C | CA463242914 | AGO2 | c.1392A>G (p.Glu464=) c.*977A>G (n.*977A>G) c.1479A>G (p.Glu493=) c.1434A>G (p.Glu478=) c.1254A>G (p.Glu418=) c.1161A>G (p.Glu387=) c.1569A>G (p.Glu523=) | gnomAD v4 |
| 8 | g.140551314T>G | CA372320276 | AGO2 | c.1392A>C (p.Glu464Asp) c.*977A>C (n.*977A>C) c.1479A>C (p.Glu493Asp) c.1434A>C (p.Glu478Asp) c.1254A>C (p.Glu418Asp) c.1161A>C (p.Glu387Asp) c.1569A>C (p.Glu523Asp) | |
| 8 | g.140551315T>A | CA372320280 | AGO2 | c.1391A>T (p.Glu464Val) c.*976A>T (n.*976A>T) c.1478A>T (p.Glu493Val) c.1433A>T (p.Glu478Val) c.1253A>T (p.Glu418Val) c.1160A>T (p.Glu387Val) c.1568A>T (p.Glu523Val) | |
| 8 | g.140551315T>C | CA372320278 | AGO2 | c.1391A>G (p.Glu464Gly) c.*976A>G (n.*976A>G) c.1478A>G (p.Glu493Gly) c.1433A>G (p.Glu478Gly) c.1253A>G (p.Glu418Gly) c.1160A>G (p.Glu387Gly) c.1568A>G (p.Glu523Gly) | |
| 8 | g.140551315T>G | CA372320279 | AGO2 | c.1391A>C (p.Glu464Ala) c.*976A>C (n.*976A>C) c.1478A>C (p.Glu493Ala) c.1433A>C (p.Glu478Ala) c.1253A>C (p.Glu418Ala) c.1160A>C (p.Glu387Ala) c.1568A>C (p.Glu523Ala) | |
| 8 | g.140551316C>A | CA372320281 | AGO2 | c.1390G>T (p.Glu464Ter) c.*975G>T (n.*975G>T) c.1477G>T (p.Glu493Ter) c.1432G>T (p.Glu478Ter) c.1252G>T (p.Glu418Ter) c.1159G>T (p.Glu387Ter) c.1567G>T (p.Glu523Ter) | gnomAD v4 |
| 8 | g.140551316C>G | CA372320282 | AGO2 | c.1390G>C (p.Glu464Gln) c.*975G>C (n.*975G>C) c.1477G>C (p.Glu493Gln) c.1432G>C (p.Glu478Gln) c.1252G>C (p.Glu418Gln) c.1159G>C (p.Glu387Gln) c.1567G>C (p.Glu523Gln) | |
| 8 | g.140551316C>T | CA372320283 | AGO2 | c.1390G>A (p.Glu464Lys) c.*975G>A (n.*975G>A) c.1477G>A (p.Glu493Lys) c.1432G>A (p.Glu478Lys) c.1252G>A (p.Glu418Lys) c.1159G>A (p.Glu387Lys) c.1567G>A (p.Glu523Lys) | |
| 8 | g.140551317C>A | CA463242915 | AGO2 | c.1389G>T (p.Thr463=) c.*974G>T (n.*974G>T) c.1476G>T (p.Thr492=) c.1431G>T (p.Thr477=) c.1251G>T (p.Thr417=) c.1158G>T (p.Thr386=) c.1566G>T (p.Thr522=) | gnomAD v4 |
| 8 | g.140551317C= | CA1824690614 | AGO2 | c.1389G= (p.Thr463=) c.*974G= (n.*974G=) c.1476G= (p.Thr492=) c.1431G= (p.Thr477=) c.1251G= (p.Thr417=) c.1158G= (p.Thr386=) c.1566G= (p.Thr522=) | |
| 8 | g.140551317C>G | CA463242916 | AGO2 | c.1389G>C (p.Thr463=) c.*974G>C (n.*974G>C) c.1476G>C (p.Thr492=) c.1431G>C (p.Thr477=) c.1251G>C (p.Thr417=) c.1158G>C (p.Thr386=) c.1566G>C (p.Thr522=) | |
| 8 | g.140551317C>T | CA4894439 | AGO2 | c.1389G>A (p.Thr463=) c.*974G>A (n.*974G>A) c.1476G>A (p.Thr492=) c.1431G>A (p.Thr477=) c.1251G>A (p.Thr417=) c.1158G>A (p.Thr386=) c.1566G>A (p.Thr522=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.140551318G>A | CA372320284 | AGO2 | c.1388C>T (p.Thr463Met) c.*973C>T (n.*973C>T) c.1475C>T (p.Thr492Met) c.1430C>T (p.Thr477Met) c.1250C>T (p.Thr417Met) c.1157C>T (p.Thr386Met) c.1565C>T (p.Thr522Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.140551318G>C | CA372320285 | AGO2 | c.1388C>G (p.Thr463Arg) c.*973C>G (n.*973C>G) c.1475C>G (p.Thr492Arg) c.1430C>G (p.Thr477Arg) c.1250C>G (p.Thr417Arg) c.1157C>G (p.Thr386Arg) c.1565C>G (p.Thr522Arg) | |
| 8 | g.140551318G= | CA1824690616 | AGO2 | c.1388C= (p.Thr463=) c.*973C= (n.*973C=) c.1475C= (p.Thr492=) c.1430C= (p.Thr477=) c.1250C= (p.Thr417=) c.1157C= (p.Thr386=) c.1565C= (p.Thr522=) | |
| 8 | g.140551318G>T | CA372320286 | AGO2 | c.1388C>A (p.Thr463Lys) c.*973C>A (n.*973C>A) c.1475C>A (p.Thr492Lys) c.1430C>A (p.Thr477Lys) c.1250C>A (p.Thr417Lys) c.1157C>A (p.Thr386Lys) c.1565C>A (p.Thr522Lys) | gnomAD v4 |
| 8 | g.140551319T>A | CA372320287 | AGO2 | c.1387A>T (p.Thr463Ser) c.*972A>T (n.*972A>T) c.1474A>T (p.Thr492Ser) c.1429A>T (p.Thr477Ser) c.1249A>T (p.Thr417Ser) c.1156A>T (p.Thr386Ser) c.1564A>T (p.Thr522Ser) | |
| 8 | g.140551319T>C | CA372320288 | AGO2 | c.1387A>G (p.Thr463Ala) c.*972A>G (n.*972A>G) c.1474A>G (p.Thr492Ala) c.1429A>G (p.Thr477Ala) c.1249A>G (p.Thr417Ala) c.1156A>G (p.Thr386Ala) c.1564A>G (p.Thr522Ala) | COSMIC |
| 8 | g.140551319T>G | CA372320289 | AGO2 | c.1387A>C (p.Thr463Pro) c.*972A>C (n.*972A>C) c.1474A>C (p.Thr492Pro) c.1429A>C (p.Thr477Pro) c.1249A>C (p.Thr417Pro) c.1156A>C (p.Thr386Pro) c.1564A>C (p.Thr522Pro) | |
| 8 | g.140551320G>A | CA463242917 | AGO2 | c.1386C>T (p.Cys462=) c.*971C>T (n.*971C>T) c.1473C>T (p.Cys491=) c.1428C>T (p.Cys476=) c.1248C>T (p.Cys416=) c.1155C>T (p.Cys385=) c.1563C>T (p.Cys521=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.140551320G>C | CA372320290 | AGO2 | c.1386C>G (p.Cys462Trp) c.*971C>G (n.*971C>G) c.1473C>G (p.Cys491Trp) c.1428C>G (p.Cys476Trp) c.1248C>G (p.Cys416Trp) c.1155C>G (p.Cys385Trp) c.1563C>G (p.Cys521Trp) | |
| 8 | g.140551320G= | CA1824690618 | AGO2 | c.1386C= (p.Cys462=) c.*971C= (n.*971C=) c.1473C= (p.Cys491=) c.1428C= (p.Cys476=) c.1248C= (p.Cys416=) c.1155C= (p.Cys385=) c.1563C= (p.Cys521=) | |
| 8 | g.140551320G>T | CA372320291 | AGO2 | c.1386C>A (p.Cys462Ter) c.*971C>A (n.*971C>A) c.1473C>A (p.Cys491Ter) c.1428C>A (p.Cys476Ter) c.1248C>A (p.Cys416Ter) c.1155C>A (p.Cys385Ter) c.1563C>A (p.Cys521Ter) | |
| 8 | g.140551321C>A | CA372320292 | AGO2 | c.1385G>T (p.Cys462Phe) c.*970G>T (n.*970G>T) c.1472G>T (p.Cys491Phe) c.1427G>T (p.Cys476Phe) c.1247G>T (p.Cys416Phe) c.1154G>T (p.Cys385Phe) c.1562G>T (p.Cys521Phe) | gnomAD v4 |
| 8 | g.140551321C= | CA1824690620 | AGO2 | c.1385G= (p.Cys462=) c.*970G= (n.*970G=) c.1472G= (p.Cys491=) c.1427G= (p.Cys476=) c.1247G= (p.Cys416=) c.1154G= (p.Cys385=) c.1562G= (p.Cys521=) | |
| 8 | g.140551321C>G | CA372320293 | AGO2 | c.1385G>C (p.Cys462Ser) c.*970G>C (n.*970G>C) c.1472G>C (p.Cys491Ser) c.1427G>C (p.Cys476Ser) c.1247G>C (p.Cys416Ser) c.1154G>C (p.Cys385Ser) c.1562G>C (p.Cys521Ser) | |
| 8 | g.140551321C>T | CA372320294 | AGO2 | c.1385G>A (p.Cys462Tyr) c.*970G>A (n.*970G>A) c.1472G>A (p.Cys491Tyr) c.1427G>A (p.Cys476Tyr) c.1247G>A (p.Cys416Tyr) c.1154G>A (p.Cys385Tyr) c.1562G>A (p.Cys521Tyr) | dbSNP gnomAD v4 |
| 8 | g.140551322A>C | CA372320295 | AGO2 | c.1384T>G (p.Cys462Gly) c.*969T>G (n.*969T>G) c.1471T>G (p.Cys491Gly) c.1426T>G (p.Cys476Gly) c.1246T>G (p.Cys416Gly) c.1153T>G (p.Cys385Gly) c.1561T>G (p.Cys521Gly) | gnomAD v4 |
| 8 | g.140551322A>G | CA372320296 | AGO2 | c.1384T>C (p.Cys462Arg) c.*969T>C (n.*969T>C) c.1471T>C (p.Cys491Arg) c.1426T>C (p.Cys476Arg) c.1246T>C (p.Cys416Arg) c.1153T>C (p.Cys385Arg) c.1561T>C (p.Cys521Arg) | |
| 8 | g.140551322A>T | CA372320297 | AGO2 | c.1384T>A (p.Cys462Ser) c.*969T>A (n.*969T>A) c.1471T>A (p.Cys491Ser) c.1426T>A (p.Cys476Ser) c.1246T>A (p.Cys416Ser) c.1153T>A (p.Cys385Ser) c.1561T>A (p.Cys521Ser) | |
| 8 | g.140551323C>A | CA372320298 | AGO2 | c.1383G>T (p.Gln461His) c.*968G>T (n.*968G>T) c.1470G>T (p.Gln490His) c.1425G>T (p.Gln475His) c.1245G>T (p.Gln415His) c.1152G>T (p.Gln384His) c.1560G>T (p.Gln520His) | gnomAD v4 |
| 8 | g.140551323C>G | CA372320299 | AGO2 | c.1383G>C (p.Gln461His) c.*968G>C (n.*968G>C) c.1470G>C (p.Gln490His) c.1425G>C (p.Gln475His) c.1245G>C (p.Gln415His) c.1152G>C (p.Gln384His) c.1560G>C (p.Gln520His) | |
| 8 | g.140551323C>T | CA463242918 | AGO2 | c.1383G>A (p.Gln461=) c.*968G>A (n.*968G>A) c.1470G>A (p.Gln490=) c.1425G>A (p.Gln475=) c.1245G>A (p.Gln415=) c.1152G>A (p.Gln384=) c.1560G>A (p.Gln520=) | |
| 8 | g.140551324T>A | CA372320300 | AGO2 | c.1382A>T (p.Gln461Leu) c.*967A>T (n.*967A>T) c.1469A>T (p.Gln490Leu) c.1424A>T (p.Gln475Leu) c.1244A>T (p.Gln415Leu) c.1151A>T (p.Gln384Leu) c.1559A>T (p.Gln520Leu) | |
| 8 | g.140551324T>C | CA372320301 | AGO2 | c.1382A>G (p.Gln461Arg) c.*967A>G (n.*967A>G) c.1469A>G (p.Gln490Arg) c.1424A>G (p.Gln475Arg) c.1244A>G (p.Gln415Arg) c.1151A>G (p.Gln384Arg) c.1559A>G (p.Gln520Arg) | gnomAD v4 |
| 8 | g.140551324T>G | CA372320302 | AGO2 | c.1382A>C (p.Gln461Pro) c.*967A>C (n.*967A>C) c.1469A>C (p.Gln490Pro) c.1424A>C (p.Gln475Pro) c.1244A>C (p.Gln415Pro) c.1151A>C (p.Gln384Pro) c.1559A>C (p.Gln520Pro) | |
| 8 | g.140551325G>A | CA372320304 | AGO2 | c.1381C>T (p.Gln461Ter) c.*966C>T (n.*966C>T) c.1468C>T (p.Gln490Ter) c.1423C>T (p.Gln475Ter) c.1243C>T (p.Gln415Ter) c.1150C>T (p.Gln384Ter) c.1558C>T (p.Gln520Ter) | gnomAD v4 |
| 8 | g.140551325G>C | CA372320305 | AGO2 | c.1381C>G (p.Gln461Glu) c.*966C>G (n.*966C>G) c.1468C>G (p.Gln490Glu) c.1423C>G (p.Gln475Glu) c.1243C>G (p.Gln415Glu) c.1150C>G (p.Gln384Glu) c.1558C>G (p.Gln520Glu) | |
| 8 | g.140551325G>T | CA372320303 | AGO2 | c.1381C>A (p.Gln461Lys) c.*966C>A (n.*966C>A) c.1468C>A (p.Gln490Lys) c.1423C>A (p.Gln475Lys) c.1243C>A (p.Gln415Lys) c.1150C>A (p.Gln384Lys) c.1558C>A (p.Gln520Lys) | gnomAD v4 |
| 8 | g.140551326G>A | CA463242919 | AGO2 | c.1380C>T (p.Arg460=) c.*965C>T (n.*965C>T) c.1467C>T (p.Arg489=) c.1422C>T (p.Arg474=) c.1242C>T (p.Arg414=) c.1149C>T (p.Arg383=) c.1557C>T (p.Arg519=) | gnomAD v4 |
| 8 | g.140551326G>C | CA463242920 | AGO2 | c.1380C>G (p.Arg460=) c.*965C>G (n.*965C>G) c.1467C>G (p.Arg489=) c.1422C>G (p.Arg474=) c.1242C>G (p.Arg414=) c.1149C>G (p.Arg383=) c.1557C>G (p.Arg519=) | |
| 8 | g.140551326G>T | CA463242921 | AGO2 | c.1380C>A (p.Arg460=) c.*965C>A (n.*965C>A) c.1467C>A (p.Arg489=) c.1422C>A (p.Arg474=) c.1242C>A (p.Arg414=) c.1149C>A (p.Arg383=) c.1557C>A (p.Arg519=) | gnomAD v4 |
| 8 | g.140551327C>A | CA372320306 | AGO2 | c.1379G>T (p.Arg460Leu) c.*964G>T (n.*964G>T) c.1466G>T (p.Arg489Leu) c.1421G>T (p.Arg474Leu) c.1241G>T (p.Arg414Leu) c.1148G>T (p.Arg383Leu) c.1556G>T (p.Arg519Leu) | gnomAD v4 |
| 8 | g.140551327C>G | CA372320307 | AGO2 | c.1379G>C (p.Arg460Pro) c.*964G>C (n.*964G>C) c.1466G>C (p.Arg489Pro) c.1421G>C (p.Arg474Pro) c.1241G>C (p.Arg414Pro) c.1148G>C (p.Arg383Pro) c.1556G>C (p.Arg519Pro) | gnomAD v4 |
| 8 | g.140551327C>T | CA372320308 | AGO2 | c.1379G>A (p.Arg460His) c.*964G>A (n.*964G>A) c.1466G>A (p.Arg489His) c.1421G>A (p.Arg474His) c.1241G>A (p.Arg414His) c.1148G>A (p.Arg383His) c.1556G>A (p.Arg519His) | gnomAD v4 |
| 8 | g.140551328G>A | CA372320309 | AGO2 | c.1378C>T (p.Arg460Cys) c.*963C>T (n.*963C>T) c.1465C>T (p.Arg489Cys) c.1420C>T (p.Arg474Cys) c.1240C>T (p.Arg414Cys) c.1147C>T (p.Arg383Cys) c.1555C>T (p.Arg519Cys) | gnomAD v4 COSMIC |
| 8 | g.140551328G>C | CA372320310 | AGO2 | c.1378C>G (p.Arg460Gly) c.*963C>G (n.*963C>G) c.1465C>G (p.Arg489Gly) c.1420C>G (p.Arg474Gly) c.1240C>G (p.Arg414Gly) c.1147C>G (p.Arg383Gly) c.1555C>G (p.Arg519Gly) | gnomAD v4 |
| 8 | g.140551328G>T | CA372320311 | AGO2 | c.1378C>A (p.Arg460Ser) c.*963C>A (n.*963C>A) c.1465C>A (p.Arg489Ser) c.1420C>A (p.Arg474Ser) c.1240C>A (p.Arg414Ser) c.1147C>A (p.Arg383Ser) c.1555C>A (p.Arg519Ser) | gnomAD v4 |
| 8 | g.140551329C>A | CA372320313 | AGO2 | c.1377G>T (p.Gln459His) c.*962G>T (n.*962G>T) c.1464G>T (p.Gln488His) c.1419G>T (p.Gln473His) c.1239G>T (p.Gln413His) c.1146G>T (p.Gln382His) c.1554G>T (p.Gln518His) | gnomAD v4 |
| 8 | g.140551329C>G | CA372320312 | AGO2 | c.1377G>C (p.Gln459His) c.*962G>C (n.*962G>C) c.1464G>C (p.Gln488His) c.1419G>C (p.Gln473His) c.1239G>C (p.Gln413His) c.1146G>C (p.Gln382His) c.1554G>C (p.Gln518His) | |
| 8 | g.140551329C>T | CA463242922 | AGO2 | c.1377G>A (p.Gln459=) c.*962G>A (n.*962G>A) c.1464G>A (p.Gln488=) c.1419G>A (p.Gln473=) c.1239G>A (p.Gln413=) c.1146G>A (p.Gln382=) c.1554G>A (p.Gln518=) | |
| 8 | g.140551330T>A | CA372320314 | AGO2 | c.1376A>T (p.Gln459Leu) c.*961A>T (n.*961A>T) c.1463A>T (p.Gln488Leu) c.1418A>T (p.Gln473Leu) c.1238A>T (p.Gln413Leu) c.1145A>T (p.Gln382Leu) c.1553A>T (p.Gln518Leu) | |
| 8 | g.140551330T>C | CA372320315 | AGO2 | c.1376A>G (p.Gln459Arg) c.*961A>G (n.*961A>G) c.1463A>G (p.Gln488Arg) c.1418A>G (p.Gln473Arg) c.1238A>G (p.Gln413Arg) c.1145A>G (p.Gln382Arg) c.1553A>G (p.Gln518Arg) | gnomAD v4 |
| 8 | g.140551330T>G | CA372320316 | AGO2 | c.1376A>C (p.Gln459Pro) c.*961A>C (n.*961A>C) c.1463A>C (p.Gln488Pro) c.1418A>C (p.Gln473Pro) c.1238A>C (p.Gln413Pro) c.1145A>C (p.Gln382Pro) c.1553A>C (p.Gln518Pro) | gnomAD v4 |
| 8 | g.140551330T= | CA1824690622 | AGO2 | c.1376A= (p.Gln459=) c.*961A= (n.*961A=) c.1463A= (p.Gln488=) c.1418A= (p.Gln473=) c.1238A= (p.Gln413=) c.1145A= (p.Gln382=) c.1553A= (p.Gln518=) | |
| 8 | g.140551331G>A | CA372320317 | AGO2 | c.1375C>T (p.Gln459Ter) c.*960C>T (n.*960C>T) c.1462C>T (p.Gln488Ter) c.1417C>T (p.Gln473Ter) c.1237C>T (p.Gln413Ter) c.1144C>T (p.Gln382Ter) c.1552C>T (p.Gln518Ter) | gnomAD v4 |
| 8 | g.140551331G>C | CA372320318 | AGO2 | c.1375C>G (p.Gln459Glu) c.*960C>G (n.*960C>G) c.1462C>G (p.Gln488Glu) c.1417C>G (p.Gln473Glu) c.1237C>G (p.Gln413Glu) c.1144C>G (p.Gln382Glu) c.1552C>G (p.Gln518Glu) | |
| 8 | g.140551331G>T | CA372320319 | AGO2 | c.1375C>A (p.Gln459Lys) c.*960C>A (n.*960C>A) c.1462C>A (p.Gln488Lys) c.1417C>A (p.Gln473Lys) c.1237C>A (p.Gln413Lys) c.1144C>A (p.Gln382Lys) c.1552C>A (p.Gln518Lys) | gnomAD v4 |
| 8 | g.140551336dup | CA585314669 | AGO2 | c.1375dup (p.Gln459ProfsTer?) c.*960dup (n.*960dup) c.1462dup (p.Gln488ProfsTer?) c.1417dup (p.Gln473ProfsTer?) c.1237dup (p.Gln413ProfsTer?) c.1144dup (p.Gln382ProfsTer?) c.1552dup (p.Gln518ProfsTer?) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.140551336del | CA463242923 | AGO2 | c.1375del (p.Gln459SerfsTer9) c.*960del (n.*960del) c.1462del (p.Gln488SerfsTer9) c.1417del (p.Gln473SerfsTer9) c.1237del (p.Gln413SerfsTer9) c.1144del (p.Gln382SerfsTer9) c.1552del (p.Gln518SerfsTer9) | gnomAD v4 COSMIC |
| 8 | g.140551332G>A | CA463242924 | AGO2 | c.1374C>T (p.Pro458=) c.*959C>T (n.*959C>T) c.1461C>T (p.Pro487=) c.1416C>T (p.Pro472=) c.1236C>T (p.Pro412=) c.1143C>T (p.Pro381=) c.1551C>T (p.Pro517=) | gnomAD v4 |
| 8 | g.140551332G>C | CA463242925 | AGO2 | c.1374C>G (p.Pro458=) c.*959C>G (n.*959C>G) c.1461C>G (p.Pro487=) c.1416C>G (p.Pro472=) c.1236C>G (p.Pro412=) c.1143C>G (p.Pro381=) c.1551C>G (p.Pro517=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.140551332G= | CA1824690626 | AGO2 | c.1374C= (p.Pro458=) c.*959C= (n.*959C=) c.1461C= (p.Pro487=) c.1416C= (p.Pro472=) c.1236C= (p.Pro412=) c.1143C= (p.Pro381=) c.1551C= (p.Pro517=) | |
| 8 | g.140551332G>T | CA463242926 | AGO2 | c.1374C>A (p.Pro458=) c.*959C>A (n.*959C>A) c.1461C>A (p.Pro487=) c.1416C>A (p.Pro472=) c.1236C>A (p.Pro412=) c.1143C>A (p.Pro381=) c.1551C>A (p.Pro517=) | gnomAD v4 |
| 8 | g.140551333G>A | CA372320320 | AGO2 | c.1373C>T (p.Pro458Leu) c.*958C>T (n.*958C>T) c.1460C>T (p.Pro487Leu) c.1415C>T (p.Pro472Leu) c.1235C>T (p.Pro412Leu) c.1142C>T (p.Pro381Leu) c.1550C>T (p.Pro517Leu) | |
| 8 | g.140551333G>C | CA372320322 | AGO2 | c.1373C>G (p.Pro458Arg) c.*958C>G (n.*958C>G) c.1460C>G (p.Pro487Arg) c.1415C>G (p.Pro472Arg) c.1235C>G (p.Pro412Arg) c.1142C>G (p.Pro381Arg) c.1550C>G (p.Pro517Arg) | |
| 8 | g.140551333G>T | CA372320321 | AGO2 | c.1373C>A (p.Pro458His) c.*958C>A (n.*958C>A) c.1460C>A (p.Pro487His) c.1415C>A (p.Pro472His) c.1235C>A (p.Pro412His) c.1142C>A (p.Pro381His) c.1550C>A (p.Pro517His) | gnomAD v4 |
| 8 | g.140551334G>A | CA372320323 | AGO2 | c.1372C>T (p.Pro458Ser) c.*957C>T (n.*957C>T) c.1459C>T (p.Pro487Ser) c.1414C>T (p.Pro472Ser) c.1234C>T (p.Pro412Ser) c.1141C>T (p.Pro381Ser) c.1549C>T (p.Pro517Ser) | gnomAD v4 |
| 8 | g.140551334G>C | CA372320324 | AGO2 | c.1372C>G (p.Pro458Ala) c.*957C>G (n.*957C>G) c.1459C>G (p.Pro487Ala) c.1414C>G (p.Pro472Ala) c.1234C>G (p.Pro412Ala) c.1141C>G (p.Pro381Ala) c.1549C>G (p.Pro517Ala) | |
| 8 | g.140551334G>T | CA372320325 | AGO2 | c.1372C>A (p.Pro458Thr) c.*957C>A (n.*957C>A) c.1459C>A (p.Pro487Thr) c.1414C>A (p.Pro472Thr) c.1234C>A (p.Pro412Thr) c.1141C>A (p.Pro381Thr) c.1549C>A (p.Pro517Thr) | COSMIC |
| 8 | g.140551335G>A | CA463242927 | AGO2 | c.1371C>T (p.Ala457=) c.*956C>T (n.*956C>T) c.1458C>T (p.Ala486=) c.1413C>T (p.Ala471=) c.1233C>T (p.Ala411=) c.1140C>T (p.Ala380=) c.1548C>T (p.Ala516=) | ClinVar gnomAD v4 |
| 8 | g.140551335G>C | CA463242928 | AGO2 | c.1371C>G (p.Ala457=) c.*956C>G (n.*956C>G) c.1458C>G (p.Ala486=) c.1413C>G (p.Ala471=) c.1233C>G (p.Ala411=) c.1140C>G (p.Ala380=) c.1548C>G (p.Ala516=) | |
| 8 | g.140551335G>T | CA463242929 | AGO2 | c.1371C>A (p.Ala457=) c.*956C>A (n.*956C>A) c.1458C>A (p.Ala486=) c.1413C>A (p.Ala471=) c.1233C>A (p.Ala411=) c.1140C>A (p.Ala380=) c.1548C>A (p.Ala516=) | gnomAD v4 |
| 8 | g.140551336G>A | CA372320326 | AGO2 | c.1370C>T (p.Ala457Val) c.*955C>T (n.*955C>T) c.1457C>T (p.Ala486Val) c.1412C>T (p.Ala471Val) c.1232C>T (p.Ala411Val) c.1139C>T (p.Ala380Val) c.1547C>T (p.Ala516Val) | gnomAD v4 |
| 8 | g.140551336G>C | CA372320327 | AGO2 | c.1370C>G (p.Ala457Gly) c.*955C>G (n.*955C>G) c.1457C>G (p.Ala486Gly) c.1412C>G (p.Ala471Gly) c.1232C>G (p.Ala411Gly) c.1139C>G (p.Ala380Gly) c.1547C>G (p.Ala516Gly) | |
| 8 | g.140551336G>T | CA372320328 | AGO2 | c.1370C>A (p.Ala457Asp) c.*955C>A (n.*955C>A) c.1457C>A (p.Ala486Asp) c.1412C>A (p.Ala471Asp) c.1232C>A (p.Ala411Asp) c.1139C>A (p.Ala380Asp) c.1547C>A (p.Ala516Asp) | |
| 8 | g.140551337C>A | CA372320329 | AGO2 | c.1369G>T (p.Ala457Ser) c.*954G>T (n.*954G>T) c.1456G>T (p.Ala486Ser) c.1411G>T (p.Ala471Ser) c.1231G>T (p.Ala411Ser) c.1138G>T (p.Ala380Ser) c.1546G>T (p.Ala516Ser) | gnomAD v4 |
| 8 | g.140551337C>G | CA372320330 | AGO2 | c.1369G>C (p.Ala457Pro) c.*954G>C (n.*954G>C) c.1456G>C (p.Ala486Pro) c.1411G>C (p.Ala471Pro) c.1231G>C (p.Ala411Pro) c.1138G>C (p.Ala380Pro) c.1546G>C (p.Ala516Pro) | |
| 8 | g.140551337C>T | CA372320331 | AGO2 | c.1369G>A (p.Ala457Thr) c.*954G>A (n.*954G>A) c.1456G>A (p.Ala486Thr) c.1411G>A (p.Ala471Thr) c.1231G>A (p.Ala411Thr) c.1138G>A (p.Ala380Thr) c.1546G>A (p.Ala516Thr) | gnomAD v4 |
| 8 | g.140551338G>A | CA4894440 | AGO2 | c.1368C>T (p.Phe456=) c.*953C>T (n.*953C>T) c.1455C>T (p.Phe485=) c.1410C>T (p.Phe470=) c.1230C>T (p.Phe410=) c.1137C>T (p.Phe379=) c.1545C>T (p.Phe515=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.140551338G>C | CA372320332 | AGO2 | c.1368C>G (p.Phe456Leu) c.*953C>G (n.*953C>G) c.1455C>G (p.Phe485Leu) c.1410C>G (p.Phe470Leu) c.1230C>G (p.Phe410Leu) c.1137C>G (p.Phe379Leu) c.1545C>G (p.Phe515Leu) | |
| 8 | g.140551338G= | CA1824690628 | AGO2 | c.1368C= (p.Phe456=) c.*953C= (n.*953C=) c.1455C= (p.Phe485=) c.1410C= (p.Phe470=) c.1230C= (p.Phe410=) c.1137C= (p.Phe379=) c.1545C= (p.Phe515=) | |
| 8 | g.140551338G>T | CA372320333 | AGO2 | c.1368C>A (p.Phe456Leu) c.*953C>A (n.*953C>A) c.1455C>A (p.Phe485Leu) c.1410C>A (p.Phe470Leu) c.1230C>A (p.Phe410Leu) c.1137C>A (p.Phe379Leu) c.1545C>A (p.Phe515Leu) | dbSNP |
| 8 | g.140551339A>C | CA372320335 | AGO2 | c.1367T>G (p.Phe456Cys) c.*952T>G (n.*952T>G) c.1454T>G (p.Phe485Cys) c.1409T>G (p.Phe470Cys) c.1229T>G (p.Phe410Cys) c.1136T>G (p.Phe379Cys) c.1544T>G (p.Phe515Cys) | |
| 8 | g.140551339A>G | CA372320336 | AGO2 | c.1367T>C (p.Phe456Ser) c.*952T>C (n.*952T>C) c.1454T>C (p.Phe485Ser) c.1409T>C (p.Phe470Ser) c.1229T>C (p.Phe410Ser) c.1136T>C (p.Phe379Ser) c.1544T>C (p.Phe515Ser) | gnomAD v4 |
| 8 | g.140551339A>T | CA372320334 | AGO2 | c.1367T>A (p.Phe456Tyr) c.*952T>A (n.*952T>A) c.1454T>A (p.Phe485Tyr) c.1409T>A (p.Phe470Tyr) c.1229T>A (p.Phe410Tyr) c.1136T>A (p.Phe379Tyr) c.1544T>A (p.Phe515Tyr) | |
| 8 | g.140551340A>C | CA372320339 | AGO2 | c.1366T>G (p.Phe456Val) c.*951T>G (n.*951T>G) c.1453T>G (p.Phe485Val) c.1408T>G (p.Phe470Val) c.1228T>G (p.Phe410Val) c.1135T>G (p.Phe379Val) c.1543T>G (p.Phe515Val) | |
| 8 | g.140551340A>G | CA372320337 | AGO2 | c.1366T>C (p.Phe456Leu) c.*951T>C (n.*951T>C) c.1453T>C (p.Phe485Leu) c.1408T>C (p.Phe470Leu) c.1228T>C (p.Phe410Leu) c.1135T>C (p.Phe379Leu) c.1543T>C (p.Phe515Leu) | gnomAD v4 |
| 8 | g.140551340A>T | CA372320338 | AGO2 | c.1366T>A (p.Phe456Ile) c.*951T>A (n.*951T>A) c.1453T>A (p.Phe485Ile) c.1408T>A (p.Phe470Ile) c.1228T>A (p.Phe410Ile) c.1135T>A (p.Phe379Ile) c.1543T>A (p.Phe515Ile) | |
| 8 | g.140551341G>A | CA463242930 | AGO2 | c.1365C>T (p.Cys455=) c.*950C>T (n.*950C>T) c.1452C>T (p.Cys484=) c.1407C>T (p.Cys469=) c.1227C>T (p.Cys409=) c.1134C>T (p.Cys378=) c.1542C>T (p.Cys514=) | gnomAD v4 |
| 8 | g.140551341G>C | CA372320340 | AGO2 | c.1365C>G (p.Cys455Trp) c.*950C>G (n.*950C>G) c.1452C>G (p.Cys484Trp) c.1407C>G (p.Cys469Trp) c.1227C>G (p.Cys409Trp) c.1134C>G (p.Cys378Trp) c.1542C>G (p.Cys514Trp) | |
| 8 | g.140551341G>T | CA372320341 | AGO2 | c.1365C>A (p.Cys455Ter) c.*950C>A (n.*950C>A) c.1452C>A (p.Cys484Ter) c.1407C>A (p.Cys469Ter) c.1227C>A (p.Cys409Ter) c.1134C>A (p.Cys378Ter) c.1542C>A (p.Cys514Ter) | |
| 8 | g.140551342C>A | CA372320342 | AGO2 | c.1364G>T (p.Cys455Phe) c.*949G>T (n.*949G>T) c.1451G>T (p.Cys484Phe) c.1406G>T (p.Cys469Phe) c.1226G>T (p.Cys409Phe) c.1133G>T (p.Cys378Phe) c.1541G>T (p.Cys514Phe) | |
| 8 | g.140551342C>G | CA372320343 | AGO2 | c.1364G>C (p.Cys455Ser) c.*949G>C (n.*949G>C) c.1451G>C (p.Cys484Ser) c.1406G>C (p.Cys469Ser) c.1226G>C (p.Cys409Ser) c.1133G>C (p.Cys378Ser) c.1541G>C (p.Cys514Ser) | |
| 8 | g.140551342C>T | CA372320344 | AGO2 | c.1364G>A (p.Cys455Tyr) c.*949G>A (n.*949G>A) c.1451G>A (p.Cys484Tyr) c.1406G>A (p.Cys469Tyr) c.1226G>A (p.Cys409Tyr) c.1133G>A (p.Cys378Tyr) c.1541G>A (p.Cys514Tyr) | |
| 8 | g.140551343A>C | CA372320345 | AGO2 | c.1363T>G (p.Cys455Gly) c.*948T>G (n.*948T>G) c.1450T>G (p.Cys484Gly) c.1405T>G (p.Cys469Gly) c.1225T>G (p.Cys409Gly) c.1132T>G (p.Cys378Gly) c.1540T>G (p.Cys514Gly) | |
| 8 | g.140551343A>G | CA372320346 | AGO2 | c.1363T>C (p.Cys455Arg) c.*948T>C (n.*948T>C) c.1450T>C (p.Cys484Arg) c.1405T>C (p.Cys469Arg) c.1225T>C (p.Cys409Arg) c.1132T>C (p.Cys378Arg) c.1540T>C (p.Cys514Arg) | |
| 8 | g.140551343A>T | CA372320347 | AGO2 | c.1363T>A (p.Cys455Ser) c.*948T>A (n.*948T>A) c.1450T>A (p.Cys484Ser) c.1405T>A (p.Cys469Ser) c.1225T>A (p.Cys409Ser) c.1132T>A (p.Cys378Ser) c.1540T>A (p.Cys514Ser) | |
| 8 | g.140551344C>A | CA463242931 | AGO2 | c.1362G>T (p.Ala454=) c.*947G>T (n.*947G>T) c.1449G>T (p.Ala483=) c.1404G>T (p.Ala468=) c.1224G>T (p.Ala408=) c.1131G>T (p.Ala377=) c.1539G>T (p.Ala513=) | |
| 8 | g.140551344C= | CA1824690629 | AGO2 | c.1362G= (p.Ala454=) c.*947G= (n.*947G=) c.1449G= (p.Ala483=) c.1404G= (p.Ala468=) c.1224G= (p.Ala408=) c.1131G= (p.Ala377=) c.1539G= (p.Ala513=) | |
| 8 | g.140551344C>G | CA463242932 | AGO2 | c.1362G>C (p.Ala454=) c.*947G>C (n.*947G>C) c.1449G>C (p.Ala483=) c.1404G>C (p.Ala468=) c.1224G>C (p.Ala408=) c.1131G>C (p.Ala377=) c.1539G>C (p.Ala513=) | |
| 8 | g.140551344C>T | CA4894441 | AGO2 | c.1362G>A (p.Ala454=) c.*947G>A (n.*947G>A) c.1449G>A (p.Ala483=) c.1404G>A (p.Ala468=) c.1224G>A (p.Ala408=) c.1131G>A (p.Ala377=) c.1539G>A (p.Ala513=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.140551345G>A | CA372320350 | AGO2 | c.1361C>T (p.Ala454Val) c.*946C>T (n.*946C>T) c.1448C>T (p.Ala483Val) c.1403C>T (p.Ala468Val) c.1223C>T (p.Ala408Val) c.1130C>T (p.Ala377Val) c.1538C>T (p.Ala513Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.140551345G>C | CA372320349 | AGO2 | c.1361C>G (p.Ala454Gly) c.*946C>G (n.*946C>G) c.1448C>G (p.Ala483Gly) c.1403C>G (p.Ala468Gly) c.1223C>G (p.Ala408Gly) c.1130C>G (p.Ala377Gly) c.1538C>G (p.Ala513Gly) | gnomAD v4 |
| 8 | g.140551345G= | CA1824690631 | AGO2 | c.1361C= (p.Ala454=) c.*946C= (n.*946C=) c.1448C= (p.Ala483=) c.1403C= (p.Ala468=) c.1223C= (p.Ala408=) c.1130C= (p.Ala377=) c.1538C= (p.Ala513=) | |
| 8 | g.140551345G>T | CA372320348 | AGO2 | c.1361C>A (p.Ala454Glu) c.*946C>A (n.*946C>A) c.1448C>A (p.Ala483Glu) c.1403C>A (p.Ala468Glu) c.1223C>A (p.Ala408Glu) c.1130C>A (p.Ala377Glu) c.1538C>A (p.Ala513Glu) | dbSNP gnomAD v2 |
| 8 | g.140551346C>A | CA372320351 | AGO2 | c.1360G>T (p.Ala454Ser) c.*945G>T (n.*945G>T) c.1447G>T (p.Ala483Ser) c.1402G>T (p.Ala468Ser) c.1222G>T (p.Ala408Ser) c.1129G>T (p.Ala377Ser) c.1537G>T (p.Ala513Ser) | gnomAD v4 |
| 8 | g.140551346C>G | CA372320352 | AGO2 | c.1360G>C (p.Ala454Pro) c.*945G>C (n.*945G>C) c.1447G>C (p.Ala483Pro) c.1402G>C (p.Ala468Pro) c.1222G>C (p.Ala408Pro) c.1129G>C (p.Ala377Pro) c.1537G>C (p.Ala513Pro) | |
| 8 | g.140551346C>T | CA372320353 | AGO2 | c.1360G>A (p.Ala454Thr) c.*945G>A (n.*945G>A) c.1447G>A (p.Ala483Thr) c.1402G>A (p.Ala468Thr) c.1222G>A (p.Ala408Thr) c.1129G>A (p.Ala377Thr) c.1537G>A (p.Ala513Thr) | gnomAD v4 |
| 8 | g.140551347A= | CA1824690633 | AGO2 | c.1359T= (p.Ile453=) c.*944T= (n.*944T=) c.1446T= (p.Ile482=) c.1401T= (p.Ile467=) c.1221T= (p.Ile407=) c.1128T= (p.Ile376=) c.1536T= (p.Ile512=) | |
| 8 | g.140551347A>C | CA372320354 | AGO2 | c.1359T>G (p.Ile453Met) c.*944T>G (n.*944T>G) c.1446T>G (p.Ile482Met) c.1401T>G (p.Ile467Met) c.1221T>G (p.Ile407Met) c.1128T>G (p.Ile376Met) c.1536T>G (p.Ile512Met) | |
| 8 | g.140551347A>G | CA463242933 | AGO2 | c.1359T>C (p.Ile453=) c.*944T>C (n.*944T>C) c.1446T>C (p.Ile482=) c.1401T>C (p.Ile467=) c.1221T>C (p.Ile407=) c.1128T>C (p.Ile376=) c.1536T>C (p.Ile512=) | dbSNP gnomAD v4 |
| 8 | g.140551347A>T | CA463242934 | AGO2 | c.1359T>A (p.Ile453=) c.*944T>A (n.*944T>A) c.1446T>A (p.Ile482=) c.1401T>A (p.Ile467=) c.1221T>A (p.Ile407=) c.1128T>A (p.Ile376=) c.1536T>A (p.Ile512=) | |
| 8 | g.140551348A= | CA1824690635 | AGO2 | c.1358T= (p.Ile453=) c.*943T= (n.*943T=) c.1445T= (p.Ile482=) c.1400T= (p.Ile467=) c.1220T= (p.Ile407=) c.1127T= (p.Ile376=) c.1535T= (p.Ile512=) | |
| 8 | g.140551348A>C | CA372320355 | AGO2 | c.1358T>G (p.Ile453Ser) c.*943T>G (n.*943T>G) c.1445T>G (p.Ile482Ser) c.1400T>G (p.Ile467Ser) c.1220T>G (p.Ile407Ser) c.1127T>G (p.Ile376Ser) c.1535T>G (p.Ile512Ser) | |
| 8 | g.140551348A>G | CA372320356 | AGO2 | c.1358T>C (p.Ile453Thr) c.*943T>C (n.*943T>C) c.1445T>C (p.Ile482Thr) c.1400T>C (p.Ile467Thr) c.1220T>C (p.Ile407Thr) c.1127T>C (p.Ile376Thr) c.1535T>C (p.Ile512Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.140551348A>T | CA372320357 | AGO2 | c.1358T>A (p.Ile453Asn) c.*943T>A (n.*943T>A) c.1445T>A (p.Ile482Asn) c.1400T>A (p.Ile467Asn) c.1220T>A (p.Ile407Asn) c.1127T>A (p.Ile376Asn) c.1535T>A (p.Ile512Asn) | |
| 8 | g.140551349T>A | CA372320358 | AGO2 | c.1357A>T (p.Ile453Phe) c.*942A>T (n.*942A>T) c.1444A>T (p.Ile482Phe) c.1399A>T (p.Ile467Phe) c.1219A>T (p.Ile407Phe) c.1126A>T (p.Ile376Phe) c.1534A>T (p.Ile512Phe) | |
| 8 | g.140551349T>C | CA372320359 | AGO2 | c.1357A>G (p.Ile453Val) c.*942A>G (n.*942A>G) c.1444A>G (p.Ile482Val) c.1399A>G (p.Ile467Val) c.1219A>G (p.Ile407Val) c.1126A>G (p.Ile376Val) c.1534A>G (p.Ile512Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.140551349T>G | CA372320360 | AGO2 | c.1357A>C (p.Ile453Leu) c.*942A>C (n.*942A>C) c.1444A>C (p.Ile482Leu) c.1399A>C (p.Ile467Leu) c.1219A>C (p.Ile407Leu) c.1126A>C (p.Ile376Leu) c.1534A>C (p.Ile512Leu) | |
| 8 | g.140551349T= | CA1824690637 | AGO2 | c.1357A= (p.Ile453=) c.*942A= (n.*942A=) c.1444A= (p.Ile482=) c.1399A= (p.Ile467=) c.1219A= (p.Ile407=) c.1126A= (p.Ile376=) c.1534A= (p.Ile512=) | |
| 8 | g.140551350G>A | CA463242935 | AGO2 | c.1356C>T (p.Ala452=) c.*941C>T (n.*941C>T) c.1443C>T (p.Ala481=) c.1398C>T (p.Ala466=) c.1218C>T (p.Ala406=) c.1125C>T (p.Ala375=) c.1533C>T (p.Ala511=) | |
| 8 | g.140551350G>C | CA463242936 | AGO2 | c.1356C>G (p.Ala452=) c.*941C>G (n.*941C>G) c.1443C>G (p.Ala481=) c.1398C>G (p.Ala466=) c.1218C>G (p.Ala406=) c.1125C>G (p.Ala375=) c.1533C>G (p.Ala511=) | |
| 8 | g.140551350G>T | CA463242937 | AGO2 | c.1356C>A (p.Ala452=) c.*941C>A (n.*941C>A) c.1443C>A (p.Ala481=) c.1398C>A (p.Ala466=) c.1218C>A (p.Ala406=) c.1125C>A (p.Ala375=) c.1533C>A (p.Ala511=) | |
| 8 | g.140551351G>A | CA372320361 | AGO2 | c.1355C>T (p.Ala452Val) c.*940C>T (n.*940C>T) c.1442C>T (p.Ala481Val) c.1397C>T (p.Ala466Val) c.1217C>T (p.Ala406Val) c.1124C>T (p.Ala375Val) c.1532C>T (p.Ala511Val) | gnomAD v4 |
| 8 | g.140551351G>C | CA372320362 | AGO2 | c.1355C>G (p.Ala452Gly) c.*940C>G (n.*940C>G) c.1442C>G (p.Ala481Gly) c.1397C>G (p.Ala466Gly) c.1217C>G (p.Ala406Gly) c.1124C>G (p.Ala375Gly) c.1532C>G (p.Ala511Gly) | |
| 8 | g.140551351G>T | CA372320363 | AGO2 | c.1355C>A (p.Ala452Asp) c.*940C>A (n.*940C>A) c.1442C>A (p.Ala481Asp) c.1397C>A (p.Ala466Asp) c.1217C>A (p.Ala406Asp) c.1124C>A (p.Ala375Asp) c.1532C>A (p.Ala511Asp) | |
| 8 | g.140551352C>A | CA372320365 | AGO2 | c.1354G>T (p.Ala452Ser) c.*939G>T (n.*939G>T) c.1441G>T (p.Ala481Ser) c.1396G>T (p.Ala466Ser) c.1216G>T (p.Ala406Ser) c.1123G>T (p.Ala375Ser) c.1531G>T (p.Ala511Ser) | gnomAD v4 |
| 8 | g.140551352C>G | CA372320366 | AGO2 | c.1354G>C (p.Ala452Pro) c.*939G>C (n.*939G>C) c.1441G>C (p.Ala481Pro) c.1396G>C (p.Ala466Pro) c.1216G>C (p.Ala406Pro) c.1123G>C (p.Ala375Pro) c.1531G>C (p.Ala511Pro) | |
| 8 | g.140551352C>T | CA372320364 | AGO2 | c.1354G>A (p.Ala452Thr) c.*939G>A (n.*939G>A) c.1441G>A (p.Ala481Thr) c.1396G>A (p.Ala466Thr) c.1216G>A (p.Ala406Thr) c.1123G>A (p.Ala375Thr) c.1531G>A (p.Ala511Thr) | gnomAD v4 |
| 8 | g.140551353C>A | CA372320367 | AGO2 | c.1353G>T (p.Trp451Cys) c.*938G>T (n.*938G>T) c.1440G>T (p.Trp480Cys) c.1395G>T (p.Trp465Cys) c.1215G>T (p.Trp405Cys) c.1122G>T (p.Trp374Cys) c.1530G>T (p.Trp510Cys) | |
| 8 | g.140551353C>G | CA372320368 | AGO2 | c.1353G>C (p.Trp451Cys) c.*938G>C (n.*938G>C) c.1440G>C (p.Trp480Cys) c.1395G>C (p.Trp465Cys) c.1215G>C (p.Trp405Cys) c.1122G>C (p.Trp374Cys) c.1530G>C (p.Trp510Cys) | |
| 8 | g.140551353C>T | CA372320369 | AGO2 | c.1353G>A (p.Trp451Ter) c.*938G>A (n.*938G>A) c.1440G>A (p.Trp480Ter) c.1395G>A (p.Trp465Ter) c.1215G>A (p.Trp405Ter) c.1122G>A (p.Trp374Ter) c.1530G>A (p.Trp510Ter) | |
| 8 | g.140551354C>A | CA372320370 | AGO2 | c.1352G>T (p.Trp451Leu) c.*937G>T (n.*937G>T) c.1439G>T (p.Trp480Leu) c.1394G>T (p.Trp465Leu) c.1214G>T (p.Trp405Leu) c.1121G>T (p.Trp374Leu) c.1529G>T (p.Trp510Leu) | gnomAD v4 |
| 8 | g.140551354C>G | CA372320371 | AGO2 | c.1352G>C (p.Trp451Ser) c.*937G>C (n.*937G>C) c.1439G>C (p.Trp480Ser) c.1394G>C (p.Trp465Ser) c.1214G>C (p.Trp405Ser) c.1121G>C (p.Trp374Ser) c.1529G>C (p.Trp510Ser) | |
| 8 | g.140551354C>T | CA372320372 | AGO2 | c.1352G>A (p.Trp451Ter) c.*937G>A (n.*937G>A) c.1439G>A (p.Trp480Ter) c.1394G>A (p.Trp465Ter) c.1214G>A (p.Trp405Ter) c.1121G>A (p.Trp374Ter) c.1529G>A (p.Trp510Ter) | |
| 8 | g.140551355A>C | CA372320375 | AGO2 | c.1351T>G (p.Trp451Gly) c.*936T>G (n.*936T>G) c.1438T>G (p.Trp480Gly) c.1393T>G (p.Trp465Gly) c.1213T>G (p.Trp405Gly) c.1120T>G (p.Trp374Gly) c.1528T>G (p.Trp510Gly) | |
| 8 | g.140551355A>G | CA372320373 | AGO2 | c.1351T>C (p.Trp451Arg) c.*936T>C (n.*936T>C) c.1438T>C (p.Trp480Arg) c.1393T>C (p.Trp465Arg) c.1213T>C (p.Trp405Arg) c.1120T>C (p.Trp374Arg) c.1528T>C (p.Trp510Arg) | |
| 8 | g.140551355A>T | CA372320374 | AGO2 | c.1351T>A (p.Trp451Arg) c.*936T>A (n.*936T>A) c.1438T>A (p.Trp480Arg) c.1393T>A (p.Trp465Arg) c.1213T>A (p.Trp405Arg) c.1120T>A (p.Trp374Arg) c.1528T>A (p.Trp510Arg) | |
| 8 | g.140551356C>A | CA463242938 | AGO2 | c.1350G>T (p.Val450=) c.*935G>T (n.*935G>T) c.1437G>T (p.Val479=) c.1392G>T (p.Val464=) c.1212G>T (p.Val404=) c.1119G>T (p.Val373=) c.1527G>T (p.Val509=) | dbSNP gnomAD v4 |
| 8 | g.140551356C= | CA1824690640 | AGO2 | c.1350G= (p.Val450=) c.*935G= (n.*935G=) c.1437G= (p.Val479=) c.1392G= (p.Val464=) c.1212G= (p.Val404=) c.1119G= (p.Val373=) c.1527G= (p.Val509=) | |
| 8 | g.140551356C>G | CA463242939 | AGO2 | c.1350G>C (p.Val450=) c.*935G>C (n.*935G>C) c.1437G>C (p.Val479=) c.1392G>C (p.Val464=) c.1212G>C (p.Val404=) c.1119G>C (p.Val373=) c.1527G>C (p.Val509=) | |
| 8 | g.140551356C>T | CA463242940 | AGO2 | c.1350G>A (p.Val450=) c.*935G>A (n.*935G>A) c.1437G>A (p.Val479=) c.1392G>A (p.Val464=) c.1212G>A (p.Val404=) c.1119G>A (p.Val373=) c.1527G>A (p.Val509=) | |
| 8 | g.140551357A>C | CA372320376 | AGO2 | c.1349T>G (p.Val450Gly) c.*934T>G (n.*934T>G) c.1436T>G (p.Val479Gly) c.1391T>G (p.Val464Gly) c.1211T>G (p.Val404Gly) c.1118T>G (p.Val373Gly) c.1526T>G (p.Val509Gly) | |
| 8 | g.140551357A>G | CA372320377 | AGO2 | c.1349T>C (p.Val450Ala) c.*934T>C (n.*934T>C) c.1436T>C (p.Val479Ala) c.1391T>C (p.Val464Ala) c.1211T>C (p.Val404Ala) c.1118T>C (p.Val373Ala) c.1526T>C (p.Val509Ala) | |
| 8 | g.140551357A>T | CA372320378 | AGO2 | c.1349T>A (p.Val450Glu) c.*934T>A (n.*934T>A) c.1436T>A (p.Val479Glu) c.1391T>A (p.Val464Glu) c.1211T>A (p.Val404Glu) c.1118T>A (p.Val373Glu) c.1526T>A (p.Val509Glu) | |
| 8 | g.140551358C>A | CA372320379 | AGO2 | c.1348G>T (p.Val450Leu) c.*933G>T (n.*933G>T) c.1435G>T (p.Val479Leu) c.1390G>T (p.Val464Leu) c.1210G>T (p.Val404Leu) c.1117G>T (p.Val373Leu) c.1525G>T (p.Val509Leu) | |
| 8 | g.140551358C= | CA1824690642 | AGO2 | c.1348G= (p.Val450=) c.*933G= (n.*933G=) c.1435G= (p.Val479=) c.1390G= (p.Val464=) c.1210G= (p.Val404=) c.1117G= (p.Val373=) c.1525G= (p.Val509=) | |
| 8 | g.140551358C>G | CA372320380 | AGO2 | c.1348G>C (p.Val450Leu) c.*933G>C (n.*933G>C) c.1435G>C (p.Val479Leu) c.1390G>C (p.Val464Leu) c.1210G>C (p.Val404Leu) c.1117G>C (p.Val373Leu) c.1525G>C (p.Val509Leu) | |
| 8 | g.140551358C>T | CA372320381 | AGO2 | c.1348G>A (p.Val450Met) c.*933G>A (n.*933G>A) c.1435G>A (p.Val479Met) c.1390G>A (p.Val464Met) c.1210G>A (p.Val404Met) c.1117G>A (p.Val373Met) c.1525G>A (p.Val509Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.140551359C>A | CA372320382 | AGO2 | c.1347G>T (p.Lys449Asn) c.*932G>T (n.*932G>T) c.1434G>T (p.Lys478Asn) c.1389G>T (p.Lys463Asn) c.1209G>T (p.Lys403Asn) c.1116G>T (p.Lys372Asn) c.1524G>T (p.Lys508Asn) | gnomAD v4 |
| 8 | g.140551359C= | CA1824690643 | AGO2 | c.1347G= (p.Lys449=) c.*932G= (n.*932G=) c.1434G= (p.Lys478=) c.1389G= (p.Lys463=) c.1209G= (p.Lys403=) c.1116G= (p.Lys372=) c.1524G= (p.Lys508=) | |
| 8 | g.140551359C>G | CA372320383 | AGO2 | c.1347G>C (p.Lys449Asn) c.*932G>C (n.*932G>C) c.1434G>C (p.Lys478Asn) c.1389G>C (p.Lys463Asn) c.1209G>C (p.Lys403Asn) c.1116G>C (p.Lys372Asn) c.1524G>C (p.Lys508Asn) | |
| 8 | g.140551359C>T | CA4894442 | AGO2 | c.1347G>A (p.Lys449=) c.*932G>A (n.*932G>A) c.1434G>A (p.Lys478=) c.1389G>A (p.Lys463=) c.1209G>A (p.Lys403=) c.1116G>A (p.Lys372=) c.1524G>A (p.Lys508=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.140551360T>A | CA372320384 | AGO2 | c.1346A>T (p.Lys449Met) c.*931A>T (n.*931A>T) c.1433A>T (p.Lys478Met) c.1388A>T (p.Lys463Met) c.1208A>T (p.Lys403Met) c.1115A>T (p.Lys372Met) c.1523A>T (p.Lys508Met) | |
| 8 | g.140551360T>C | CA372320385 | AGO2 | c.1346A>G (p.Lys449Arg) c.*931A>G (n.*931A>G) c.1433A>G (p.Lys478Arg) c.1388A>G (p.Lys463Arg) c.1208A>G (p.Lys403Arg) c.1115A>G (p.Lys372Arg) c.1523A>G (p.Lys508Arg) | gnomAD v4 |
| 8 | g.140551360T>G | CA372320386 | AGO2 | c.1346A>C (p.Lys449Thr) c.*931A>C (n.*931A>C) c.1433A>C (p.Lys478Thr) c.1388A>C (p.Lys463Thr) c.1208A>C (p.Lys403Thr) c.1115A>C (p.Lys372Thr) c.1523A>C (p.Lys508Thr) | |
| 8 | g.140551361T>A | CA372320387 | AGO2 | c.1345A>T (p.Lys449Ter) c.*930A>T (n.*930A>T) c.1432A>T (p.Lys478Ter) c.1387A>T (p.Lys463Ter) c.1207A>T (p.Lys403Ter) c.1114A>T (p.Lys372Ter) c.1522A>T (p.Lys508Ter) | |
| 8 | g.140551361T>C | CA372320388 | AGO2 | c.1345A>G (p.Lys449Glu) c.*930A>G (n.*930A>G) c.1432A>G (p.Lys478Glu) c.1387A>G (p.Lys463Glu) c.1207A>G (p.Lys403Glu) c.1114A>G (p.Lys372Glu) c.1522A>G (p.Lys508Glu) | |
| 8 | g.140551361T>G | CA372320389 | AGO2 | c.1345A>C (p.Lys449Gln) c.*930A>C (n.*930A>C) c.1432A>C (p.Lys478Gln) c.1387A>C (p.Lys463Gln) c.1207A>C (p.Lys403Gln) c.1114A>C (p.Lys372Gln) c.1522A>C (p.Lys508Gln) | |
| 8 | g.140551362G>A | CA463242942 | AGO2 | c.1344C>T (p.Ile448=) c.*929C>T (n.*929C>T) c.1431C>T (p.Ile477=) c.1386C>T (p.Ile462=) c.1206C>T (p.Ile402=) c.1113C>T (p.Ile371=) c.1521C>T (p.Ile507=) | |
| 8 | g.140551362G>C | CA372320390 | AGO2 | c.1344C>G (p.Ile448Met) c.*929C>G (n.*929C>G) c.1431C>G (p.Ile477Met) c.1386C>G (p.Ile462Met) c.1206C>G (p.Ile402Met) c.1113C>G (p.Ile371Met) c.1521C>G (p.Ile507Met) | COSMIC |
| 8 | g.140551362G>T | CA463242941 | AGO2 | c.1344C>A (p.Ile448=) c.*929C>A (n.*929C>A) c.1431C>A (p.Ile477=) c.1386C>A (p.Ile462=) c.1206C>A (p.Ile402=) c.1113C>A (p.Ile371=) c.1521C>A (p.Ile507=) | gnomAD v4 |
| 8 | g.140551363A>C | CA372320391 | AGO2 | c.1343T>G (p.Ile448Ser) c.*928T>G (n.*928T>G) c.1430T>G (p.Ile477Ser) c.1385T>G (p.Ile462Ser) c.1205T>G (p.Ile402Ser) c.1112T>G (p.Ile371Ser) c.1520T>G (p.Ile507Ser) | |
| 8 | g.140551363A>G | CA372320392 | AGO2 | c.1343T>C (p.Ile448Thr) c.*928T>C (n.*928T>C) c.1430T>C (p.Ile477Thr) c.1385T>C (p.Ile462Thr) c.1205T>C (p.Ile402Thr) c.1112T>C (p.Ile371Thr) c.1520T>C (p.Ile507Thr) | |
| 8 | g.140551363A>T | CA372320393 | AGO2 | c.1343T>A (p.Ile448Asn) c.*928T>A (n.*928T>A) c.1430T>A (p.Ile477Asn) c.1385T>A (p.Ile462Asn) c.1205T>A (p.Ile402Asn) c.1112T>A (p.Ile371Asn) c.1520T>A (p.Ile507Asn) | |
| 8 | g.140551364T>A | CA372320394 | AGO2 | c.1342A>T (p.Ile448Phe) c.*927A>T (n.*927A>T) c.1429A>T (p.Ile477Phe) c.1384A>T (p.Ile462Phe) c.1204A>T (p.Ile402Phe) c.1111A>T (p.Ile371Phe) c.1519A>T (p.Ile507Phe) | |
| 8 | g.140551364T>C | CA372320395 | AGO2 | c.1342A>G (p.Ile448Val) c.*927A>G (n.*927A>G) c.1429A>G (p.Ile477Val) c.1384A>G (p.Ile462Val) c.1204A>G (p.Ile402Val) c.1111A>G (p.Ile371Val) c.1519A>G (p.Ile507Val) | |
| 8 | g.140551364T>G | CA372320396 | AGO2 | c.1342A>C (p.Ile448Leu) c.*927A>C (n.*927A>C) c.1429A>C (p.Ile477Leu) c.1384A>C (p.Ile462Leu) c.1204A>C (p.Ile402Leu) c.1111A>C (p.Ile371Leu) c.1519A>C (p.Ile507Leu) | |
| 8 | g.140551365C>A | CA372320398 | AGO2 | c.1341G>T (p.Glu447Asp) c.*926G>T (n.*926G>T) c.1428G>T (p.Glu476Asp) c.1383G>T (p.Glu461Asp) c.1203G>T (p.Glu401Asp) c.1110G>T (p.Glu370Asp) c.1518G>T (p.Glu506Asp) | gnomAD v4 |
| 8 | g.140551365C>G | CA372320397 | AGO2 | c.1341G>C (p.Glu447Asp) c.*926G>C (n.*926G>C) c.1428G>C (p.Glu476Asp) c.1383G>C (p.Glu461Asp) c.1203G>C (p.Glu401Asp) c.1110G>C (p.Glu370Asp) c.1518G>C (p.Glu506Asp) | |
| 8 | g.140551365C>T | CA463242943 | AGO2 | c.1341G>A (p.Glu447=) c.*926G>A (n.*926G>A) c.1428G>A (p.Glu476=) c.1383G>A (p.Glu461=) c.1203G>A (p.Glu401=) c.1110G>A (p.Glu370=) c.1518G>A (p.Glu506=) | |
| 8 | g.140551366T>A | CA372320399 | AGO2 | c.1340A>T (p.Glu447Val) c.*925A>T (n.*925A>T) c.1427A>T (p.Glu476Val) c.1382A>T (p.Glu461Val) c.1202A>T (p.Glu401Val) c.1109A>T (p.Glu370Val) c.1517A>T (p.Glu506Val) | |
| 8 | g.140551366T>C | CA372320400 | AGO2 | c.1340A>G (p.Glu447Gly) c.*925A>G (n.*925A>G) c.1427A>G (p.Glu476Gly) c.1382A>G (p.Glu461Gly) c.1202A>G (p.Glu401Gly) c.1109A>G (p.Glu370Gly) c.1517A>G (p.Glu506Gly) | |
| 8 | g.140551366T>G | CA372320401 | AGO2 | c.1340A>C (p.Glu447Ala) c.*925A>C (n.*925A>C) c.1427A>C (p.Glu476Ala) c.1382A>C (p.Glu461Ala) c.1202A>C (p.Glu401Ala) c.1109A>C (p.Glu370Ala) c.1517A>C (p.Glu506Ala) | |
| 8 | g.140551367C>A | CA372320402 | AGO2 | c.1339G>T (p.Glu447Ter) c.*924G>T (n.*924G>T) c.1426G>T (p.Glu476Ter) c.1381G>T (p.Glu461Ter) c.1201G>T (p.Glu401Ter) c.1108G>T (p.Glu370Ter) c.1516G>T (p.Glu506Ter) | |
| 8 | g.140551367C= | CA1824690646 | AGO2 | c.1339G= (p.Glu447=) c.*924G= (n.*924G=) c.1426G= (p.Glu476=) c.1381G= (p.Glu461=) c.1201G= (p.Glu401=) c.1108G= (p.Glu370=) c.1516G= (p.Glu506=) | |
| 8 | g.140551367C>G | CA372320403 | AGO2 | c.1339G>C (p.Glu447Gln) c.*924G>C (n.*924G>C) c.1426G>C (p.Glu476Gln) c.1381G>C (p.Glu461Gln) c.1201G>C (p.Glu401Gln) c.1108G>C (p.Glu370Gln) c.1516G>C (p.Glu506Gln) | |
| 8 | g.140551367C>T | CA372320404 | AGO2 | c.1339G>A (p.Glu447Lys) c.*924G>A (n.*924G>A) c.1426G>A (p.Glu476Lys) c.1381G>A (p.Glu461Lys) c.1201G>A (p.Glu401Lys) c.1108G>A (p.Glu370Lys) c.1516G>A (p.Glu506Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.140551368G>A | CA4894443 | AGO2 | c.1338C>T (p.Ile446=) c.*923C>T (n.*923C>T) c.1425C>T (p.Ile475=) c.1380C>T (p.Ile460=) c.1200C>T (p.Ile400=) c.1107C>T (p.Ile369=) c.1515C>T (p.Ile505=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.140551368G>C | CA372320405 | AGO2 | c.1338C>G (p.Ile446Met) c.*923C>G (n.*923C>G) c.1425C>G (p.Ile475Met) c.1380C>G (p.Ile460Met) c.1200C>G (p.Ile400Met) c.1107C>G (p.Ile369Met) c.1515C>G (p.Ile505Met) | dbSNP gnomAD v4 |
| 8 | g.140551368G= | CA1824690648 | AGO2 | c.1338C= (p.Ile446=) c.*923C= (n.*923C=) c.1425C= (p.Ile475=) c.1380C= (p.Ile460=) c.1200C= (p.Ile400=) c.1107C= (p.Ile369=) c.1515C= (p.Ile505=) | |
| 8 | g.140551368G>T | CA463242945 | AGO2 | c.1338C>A (p.Ile446=) c.*923C>A (n.*923C>A) c.1425C>A (p.Ile475=) c.1380C>A (p.Ile460=) c.1200C>A (p.Ile400=) c.1107C>A (p.Ile369=) c.1515C>A (p.Ile505=) | |
| 8 | g.140551369A>C | CA372320406 | AGO2 | c.1337T>G (p.Ile446Ser) c.*922T>G (n.*922T>G) c.1424T>G (p.Ile475Ser) c.1379T>G (p.Ile460Ser) c.1199T>G (p.Ile400Ser) c.1106T>G (p.Ile369Ser) c.1514T>G (p.Ile505Ser) | |
| 8 | g.140551369A>G | CA372320407 | AGO2 | c.1337T>C (p.Ile446Thr) c.*922T>C (n.*922T>C) c.1424T>C (p.Ile475Thr) c.1379T>C (p.Ile460Thr) c.1199T>C (p.Ile400Thr) c.1106T>C (p.Ile369Thr) c.1514T>C (p.Ile505Thr) | |
| 8 | g.140551369A>T | CA372320408 | AGO2 | c.1337T>A (p.Ile446Asn) c.*922T>A (n.*922T>A) c.1424T>A (p.Ile475Asn) c.1379T>A (p.Ile460Asn) c.1199T>A (p.Ile400Asn) c.1106T>A (p.Ile369Asn) c.1514T>A (p.Ile505Asn) | |
| 8 | g.140551370T>A | CA372320409 | AGO2 | c.1336A>T (p.Ile446Phe) c.*921A>T (n.*921A>T) c.1423A>T (p.Ile475Phe) c.1378A>T (p.Ile460Phe) c.1198A>T (p.Ile400Phe) c.1105A>T (p.Ile369Phe) c.1513A>T (p.Ile505Phe) | |
| 8 | g.140551370T>C | CA372320410 | AGO2 | c.1336A>G (p.Ile446Val) c.*921A>G (n.*921A>G) c.1423A>G (p.Ile475Val) c.1378A>G (p.Ile460Val) c.1198A>G (p.Ile400Val) c.1105A>G (p.Ile369Val) c.1513A>G (p.Ile505Val) | gnomAD v4 |
| 8 | g.140551370T>G | CA372320411 | AGO2 | c.1336A>C (p.Ile446Leu) c.*921A>C (n.*921A>C) c.1423A>C (p.Ile475Leu) c.1378A>C (p.Ile460Leu) c.1198A>C (p.Ile400Leu) c.1105A>C (p.Ile369Leu) c.1513A>C (p.Ile505Leu) | |
| 8 | g.140551371G>A | CA463242946 | AGO2 | c.1335C>T (p.Gly445=) c.*920C>T (n.*920C>T) c.1422C>T (p.Gly474=) c.1377C>T (p.Gly459=) c.1197C>T (p.Gly399=) c.1104C>T (p.Gly368=) c.1512C>T (p.Gly504=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.140551371G>C | CA463242947 | AGO2 | c.1335C>G (p.Gly445=) c.*920C>G (n.*920C>G) c.1422C>G (p.Gly474=) c.1377C>G (p.Gly459=) c.1197C>G (p.Gly399=) c.1104C>G (p.Gly368=) c.1512C>G (p.Gly504=) | |
| 8 | g.140551371G= | CA1824690650 | AGO2 | c.1335C= (p.Gly445=) c.*920C= (n.*920C=) c.1422C= (p.Gly474=) c.1377C= (p.Gly459=) c.1197C= (p.Gly399=) c.1104C= (p.Gly368=) c.1512C= (p.Gly504=) | |
| 8 | g.140551371G>T | CA463242948 | AGO2 | c.1335C>A (p.Gly445=) c.*920C>A (n.*920C>A) c.1422C>A (p.Gly474=) c.1377C>A (p.Gly459=) c.1197C>A (p.Gly399=) c.1104C>A (p.Gly368=) c.1512C>A (p.Gly504=) | |
| 8 | g.140551372C>A | CA4894444 | AGO2 | c.1334G>T (p.Gly445Val) c.*919G>T (n.*919G>T) c.1421G>T (p.Gly474Val) c.1376G>T (p.Gly459Val) c.1196G>T (p.Gly399Val) c.1103G>T (p.Gly368Val) c.1511G>T (p.Gly504Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.140551372C= | CA1824690652 | AGO2 | c.1334G= (p.Gly445=) c.*919G= (n.*919G=) c.1421G= (p.Gly474=) c.1376G= (p.Gly459=) c.1196G= (p.Gly399=) c.1103G= (p.Gly368=) c.1511G= (p.Gly504=) | |
| 8 | g.140551372C>G | CA372320413 | AGO2 | c.1334G>C (p.Gly445Ala) c.*919G>C (n.*919G>C) c.1421G>C (p.Gly474Ala) c.1376G>C (p.Gly459Ala) c.1196G>C (p.Gly399Ala) c.1103G>C (p.Gly368Ala) c.1511G>C (p.Gly504Ala) | |
| 8 | g.140551372C>T | CA372320412 | AGO2 | c.1334G>A (p.Gly445Asp) c.*919G>A (n.*919G>A) c.1421G>A (p.Gly474Asp) c.1376G>A (p.Gly459Asp) c.1196G>A (p.Gly399Asp) c.1103G>A (p.Gly368Asp) c.1511G>A (p.Gly504Asp) | gnomAD v4 |
| 8 | g.140551373C>A | CA372320414 | AGO2 | c.1333G>T (p.Gly445Cys) c.*918G>T (n.*918G>T) c.1420G>T (p.Gly474Cys) c.1375G>T (p.Gly459Cys) c.1195G>T (p.Gly399Cys) c.1102G>T (p.Gly368Cys) c.1510G>T (p.Gly504Cys) | gnomAD v4 |
| 8 | g.140551373C>G | CA372320415 | AGO2 | c.1333G>C (p.Gly445Arg) c.*918G>C (n.*918G>C) c.1420G>C (p.Gly474Arg) c.1375G>C (p.Gly459Arg) c.1195G>C (p.Gly399Arg) c.1102G>C (p.Gly368Arg) c.1510G>C (p.Gly504Arg) | |
| 8 | g.140551373C>T | CA372320416 | AGO2 | c.1333G>A (p.Gly445Ser) c.*918G>A (n.*918G>A) c.1420G>A (p.Gly474Ser) c.1375G>A (p.Gly459Ser) c.1195G>A (p.Gly399Ser) c.1102G>A (p.Gly368Ser) c.1510G>A (p.Gly504Ser) | |
| 8 | g.140551374C>A | CA463242949 | AGO2 | c.1332G>T (p.Thr444=) c.*917G>T (n.*917G>T) c.1419G>T (p.Thr473=) c.1374G>T (p.Thr458=) c.1194G>T (p.Thr398=) c.1101G>T (p.Thr367=) c.1509G>T (p.Thr503=) | |
| 8 | g.140551374C= | CA1824690657 | AGO2 | c.1332G= (p.Thr444=) c.*917G= (n.*917G=) c.1419G= (p.Thr473=) c.1374G= (p.Thr458=) c.1194G= (p.Thr398=) c.1101G= (p.Thr367=) c.1509G= (p.Thr503=) | |
| 8 | g.140551374C>G | CA463242950 | AGO2 | c.1332G>C (p.Thr444=) c.*917G>C (n.*917G>C) c.1419G>C (p.Thr473=) c.1374G>C (p.Thr458=) c.1194G>C (p.Thr398=) c.1101G>C (p.Thr367=) c.1509G>C (p.Thr503=) | dbSNP |
| 8 | g.140551374C>T | CA463242951 | AGO2 | c.1332G>A (p.Thr444=) c.*917G>A (n.*917G>A) c.1419G>A (p.Thr473=) c.1374G>A (p.Thr458=) c.1194G>A (p.Thr398=) c.1101G>A (p.Thr367=) c.1509G>A (p.Thr503=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.140551375del | CA645563130 | AGO2 | c.1331del (p.Thr444ArgfsTer24) c.*916del (n.*916del) c.1418del (p.Thr473ArgfsTer24) c.1373del (p.Thr458ArgfsTer24) c.1193del (p.Thr398ArgfsTer24) c.1100del (p.Thr367ArgfsTer24) c.1508del (p.Thr503ArgfsTer24) | COSMIC |
| 8 | g.140551375G>A | CA4894445 | AGO2 | c.1331C>T (p.Thr444Met) c.*916C>T (n.*916C>T) c.1418C>T (p.Thr473Met) c.1373C>T (p.Thr458Met) c.1193C>T (p.Thr398Met) c.1100C>T (p.Thr367Met) c.1508C>T (p.Thr503Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.140551375G>C | CA372320417 | AGO2 | c.1331C>G (p.Thr444Arg) c.*916C>G (n.*916C>G) c.1418C>G (p.Thr473Arg) c.1373C>G (p.Thr458Arg) c.1193C>G (p.Thr398Arg) c.1100C>G (p.Thr367Arg) c.1508C>G (p.Thr503Arg) | |
| 8 | g.140551375G= | CA1824690659 | AGO2 | c.1331C= (p.Thr444=) c.*916C= (n.*916C=) c.1418C= (p.Thr473=) c.1373C= (p.Thr458=) c.1193C= (p.Thr398=) c.1100C= (p.Thr367=) c.1508C= (p.Thr503=) | |
| 8 | g.140551375G>T | CA372320418 | AGO2 | c.1331C>A (p.Thr444Lys) c.*916C>A (n.*916C>A) c.1418C>A (p.Thr473Lys) c.1373C>A (p.Thr458Lys) c.1193C>A (p.Thr398Lys) c.1100C>A (p.Thr367Lys) c.1508C>A (p.Thr503Lys) | |
| 8 | g.140551376T>A | CA372320419 | AGO2 | c.1330A>T (p.Thr444Ser) c.*915A>T (n.*915A>T) c.1417A>T (p.Thr473Ser) c.1372A>T (p.Thr458Ser) c.1192A>T (p.Thr398Ser) c.1099A>T (p.Thr367Ser) c.1507A>T (p.Thr503Ser) | |
| 8 | g.140551376T>C | CA372320420 | AGO2 | c.1330A>G (p.Thr444Ala) c.*915A>G (n.*915A>G) c.1417A>G (p.Thr473Ala) c.1372A>G (p.Thr458Ala) c.1192A>G (p.Thr398Ala) c.1099A>G (p.Thr367Ala) c.1507A>G (p.Thr503Ala) | ClinVar |
| 8 | g.140551376T>G | CA372320421 | AGO2 | c.1330A>C (p.Thr444Pro) c.*915A>C (n.*915A>C) c.1417A>C (p.Thr473Pro) c.1372A>C (p.Thr458Pro) c.1192A>C (p.Thr398Pro) c.1099A>C (p.Thr367Pro) c.1507A>C (p.Thr503Pro) | |
| 8 | g.140551377G>A | CA4894446 | AGO2 | c.1329C>T (p.His443=) c.*914C>T (n.*914C>T) c.1416C>T (p.His472=) c.1371C>T (p.His457=) c.1191C>T (p.His397=) c.1098C>T (p.His366=) c.1506C>T (p.His502=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.140551377G>C | CA372320422 | AGO2 | c.1329C>G (p.His443Gln) c.*914C>G (n.*914C>G) c.1416C>G (p.His472Gln) c.1371C>G (p.His457Gln) c.1191C>G (p.His397Gln) c.1098C>G (p.His366Gln) c.1506C>G (p.His502Gln) | |
| 8 | g.140551377G= | CA1824690663 | AGO2 | c.1329C= (p.His443=) c.*914C= (n.*914C=) c.1416C= (p.His472=) c.1371C= (p.His457=) c.1191C= (p.His397=) c.1098C= (p.His366=) c.1506C= (p.His502=) | |
| 8 | g.140551377G>T | CA372320423 | AGO2 | c.1329C>A (p.His443Gln) c.*914C>A (n.*914C>A) c.1416C>A (p.His472Gln) c.1371C>A (p.His457Gln) c.1191C>A (p.His397Gln) c.1098C>A (p.His366Gln) c.1506C>A (p.His502Gln) | |
| 8 | g.140551378T>A | CA372320424 | AGO2 | c.1328A>T (p.His443Leu) c.*913A>T (n.*913A>T) c.1415A>T (p.His472Leu) c.1370A>T (p.His457Leu) c.1190A>T (p.His397Leu) c.1097A>T (p.His366Leu) c.1505A>T (p.His502Leu) | |
| 8 | g.140551378T>C | CA372320425 | AGO2 | c.1328A>G (p.His443Arg) c.*913A>G (n.*913A>G) c.1415A>G (p.His472Arg) c.1370A>G (p.His457Arg) c.1190A>G (p.His397Arg) c.1097A>G (p.His366Arg) c.1505A>G (p.His502Arg) | |
| 8 | g.140551378T>G | CA372320426 | AGO2 | c.1328A>C (p.His443Pro) c.*913A>C (n.*913A>C) c.1415A>C (p.His472Pro) c.1370A>C (p.His457Pro) c.1190A>C (p.His397Pro) c.1097A>C (p.His366Pro) c.1505A>C (p.His502Pro) | |
| 8 | g.140551379G>A | CA372320428 | AGO2 | c.1327C>T (p.His443Tyr) c.*912C>T (n.*912C>T) c.1414C>T (p.His472Tyr) c.1369C>T (p.His457Tyr) c.1189C>T (p.His397Tyr) c.1096C>T (p.His366Tyr) c.1504C>T (p.His502Tyr) | |
| 8 | g.140551379G>C | CA372320429 | AGO2 | c.1327C>G (p.His443Asp) c.*912C>G (n.*912C>G) c.1414C>G (p.His472Asp) c.1369C>G (p.His457Asp) c.1189C>G (p.His397Asp) c.1096C>G (p.His366Asp) c.1504C>G (p.His502Asp) | |
| 8 | g.140551379G>T | CA372320427 | AGO2 | c.1327C>A (p.His443Asn) c.*912C>A (n.*912C>A) c.1414C>A (p.His472Asn) c.1369C>A (p.His457Asn) c.1189C>A (p.His397Asn) c.1096C>A (p.His366Asn) c.1504C>A (p.His502Asn) | |
| 8 | g.140551380G>A | CA463242952 | AGO2 | c.1326C>T (p.Phe442=) c.*911C>T (n.*911C>T) c.1413C>T (p.Phe471=) c.1368C>T (p.Phe456=) c.1188C>T (p.Phe396=) c.1095C>T (p.Phe365=) c.1503C>T (p.Phe501=) | |
| 8 | g.140551380G>C | CA372320430 | AGO2 | c.1326C>G (p.Phe442Leu) c.*911C>G (n.*911C>G) c.1413C>G (p.Phe471Leu) c.1368C>G (p.Phe456Leu) c.1188C>G (p.Phe396Leu) c.1095C>G (p.Phe365Leu) c.1503C>G (p.Phe501Leu) | |
| 8 | g.140551380G>T | CA372320431 | AGO2 | c.1326C>A (p.Phe442Leu) c.*911C>A (n.*911C>A) c.1413C>A (p.Phe471Leu) c.1368C>A (p.Phe456Leu) c.1188C>A (p.Phe396Leu) c.1095C>A (p.Phe365Leu) c.1503C>A (p.Phe501Leu) | |
| 8 | g.140551381A>C | CA372320432 | AGO2 | c.1325T>G (p.Phe442Cys) c.*910T>G (n.*910T>G) c.1412T>G (p.Phe471Cys) c.1367T>G (p.Phe456Cys) c.1187T>G (p.Phe396Cys) c.1094T>G (p.Phe365Cys) c.1502T>G (p.Phe501Cys) | |
| 8 | g.140551381A>G | CA372320433 | AGO2 | c.1325T>C (p.Phe442Ser) c.*910T>C (n.*910T>C) c.1412T>C (p.Phe471Ser) c.1367T>C (p.Phe456Ser) c.1187T>C (p.Phe396Ser) c.1094T>C (p.Phe365Ser) c.1502T>C (p.Phe501Ser) | |
| 8 | g.140551381A>T | CA372320434 | AGO2 | c.1325T>A (p.Phe442Tyr) c.*910T>A (n.*910T>A) c.1412T>A (p.Phe471Tyr) c.1367T>A (p.Phe456Tyr) c.1187T>A (p.Phe396Tyr) c.1094T>A (p.Phe365Tyr) c.1502T>A (p.Phe501Tyr) | |
| 8 | g.140551382A>C | CA372320435 | AGO2 | c.1324T>G (p.Phe442Val) c.*909T>G (n.*909T>G) c.1411T>G (p.Phe471Val) c.1366T>G (p.Phe456Val) c.1186T>G (p.Phe396Val) c.1093T>G (p.Phe365Val) c.1501T>G (p.Phe501Val) | |
| 8 | g.140551382A>G | CA372320436 | AGO2 | c.1324T>C (p.Phe442Leu) c.*909T>C (n.*909T>C) c.1411T>C (p.Phe471Leu) c.1366T>C (p.Phe456Leu) c.1186T>C (p.Phe396Leu) c.1093T>C (p.Phe365Leu) c.1501T>C (p.Phe501Leu) | |
| 8 | g.140551382A>T | CA372320437 | AGO2 | c.1324T>A (p.Phe442Ile) c.*909T>A (n.*909T>A) c.1411T>A (p.Phe471Ile) c.1366T>A (p.Phe456Ile) c.1186T>A (p.Phe396Ile) c.1093T>A (p.Phe365Ile) c.1501T>A (p.Phe501Ile) | |
| 8 | g.140551383C>A | CA372320438 | AGO2 | c.1323G>T (p.Gln441His) c.*908G>T (n.*908G>T) c.1410G>T (p.Gln470His) c.1365G>T (p.Gln455His) c.1185G>T (p.Gln395His) c.1092G>T (p.Gln364His) c.1500G>T (p.Gln500His) | dbSNP gnomAD v2 |
| 8 | g.140551383C= | CA1824690665 | AGO2 | c.1323G= (p.Gln441=) c.*908G= (n.*908G=) c.1410G= (p.Gln470=) c.1365G= (p.Gln455=) c.1185G= (p.Gln395=) c.1092G= (p.Gln364=) c.1500G= (p.Gln500=) | |
| 8 | g.140551383C>G | CA372320439 | AGO2 | c.1323G>C (p.Gln441His) c.*908G>C (n.*908G>C) c.1410G>C (p.Gln470His) c.1365G>C (p.Gln455His) c.1185G>C (p.Gln395His) c.1092G>C (p.Gln364His) c.1500G>C (p.Gln500His) | |
| 8 | g.140551383C>T | CA463242953 | AGO2 | c.1323G>A (p.Gln441=) c.*908G>A (n.*908G>A) c.1410G>A (p.Gln470=) c.1365G>A (p.Gln455=) c.1185G>A (p.Gln395=) c.1092G>A (p.Gln364=) c.1500G>A (p.Gln500=) | gnomAD v4 |
| 8 | g.140551384T>A | CA372320440 | AGO2 | c.1322A>T (p.Gln441Leu) c.*907A>T (n.*907A>T) c.1409A>T (p.Gln470Leu) c.1364A>T (p.Gln455Leu) c.1184A>T (p.Gln395Leu) c.1091A>T (p.Gln364Leu) c.1499A>T (p.Gln500Leu) | |
| 8 | g.140551384T>C | CA372320441 | AGO2 | c.1322A>G (p.Gln441Arg) c.*907A>G (n.*907A>G) c.1409A>G (p.Gln470Arg) c.1364A>G (p.Gln455Arg) c.1184A>G (p.Gln395Arg) c.1091A>G (p.Gln364Arg) c.1499A>G (p.Gln500Arg) | gnomAD v4 |
| 8 | g.140551384T>G | CA372320442 | AGO2 | c.1322A>C (p.Gln441Pro) c.*907A>C (n.*907A>C) c.1409A>C (p.Gln470Pro) c.1364A>C (p.Gln455Pro) c.1184A>C (p.Gln395Pro) c.1091A>C (p.Gln364Pro) c.1499A>C (p.Gln500Pro) | |
| 8 | g.140551385G>A | CA372320444 | AGO2 | c.1321C>T (p.Gln441Ter) c.*906C>T (n.*906C>T) c.1408C>T (p.Gln470Ter) c.1363C>T (p.Gln455Ter) c.1183C>T (p.Gln395Ter) c.1090C>T (p.Gln364Ter) c.1498C>T (p.Gln500Ter) | gnomAD v4 |
| 8 | g.140551385G>C | CA372320445 | AGO2 | c.1321C>G (p.Gln441Glu) c.*906C>G (n.*906C>G) c.1408C>G (p.Gln470Glu) c.1363C>G (p.Gln455Glu) c.1183C>G (p.Gln395Glu) c.1090C>G (p.Gln364Glu) c.1498C>G (p.Gln500Glu) | |
| 8 | g.140551385G>T | CA372320443 | AGO2 | c.1321C>A (p.Gln441Lys) c.*906C>A (n.*906C>A) c.1408C>A (p.Gln470Lys) c.1363C>A (p.Gln455Lys) c.1183C>A (p.Gln395Lys) c.1090C>A (p.Gln364Lys) c.1498C>A (p.Gln500Lys) | |
| 8 | g.140551386C>A | CA372320446 | AGO2 | c.1320G>T (p.Lys440Asn) c.*905G>T (n.*905G>T) c.1407G>T (p.Lys469Asn) c.1362G>T (p.Lys454Asn) c.1182G>T (p.Lys394Asn) c.1089G>T (p.Lys363Asn) c.1497G>T (p.Lys499Asn) | |
| 8 | g.140551386C>G | CA372320447 | AGO2 | c.1320G>C (p.Lys440Asn) c.*905G>C (n.*905G>C) c.1407G>C (p.Lys469Asn) c.1362G>C (p.Lys454Asn) c.1182G>C (p.Lys394Asn) c.1089G>C (p.Lys363Asn) c.1497G>C (p.Lys499Asn) | |
| 8 | g.140551386C>T | CA463242954 | AGO2 | c.1320G>A (p.Lys440=) c.*905G>A (n.*905G>A) c.1407G>A (p.Lys469=) c.1362G>A (p.Lys454=) c.1182G>A (p.Lys394=) c.1089G>A (p.Lys363=) c.1497G>A (p.Lys499=) | |
| 8 | g.140551387T>A | CA372320448 | AGO2 | c.1319A>T (p.Lys440Met) c.*904A>T (n.*904A>T) c.1406A>T (p.Lys469Met) c.1361A>T (p.Lys454Met) c.1181A>T (p.Lys394Met) c.1088A>T (p.Lys363Met) c.1496A>T (p.Lys499Met) | |
| 8 | g.140551387T>C | CA372320449 | AGO2 | c.1319A>G (p.Lys440Arg) c.*904A>G (n.*904A>G) c.1406A>G (p.Lys469Arg) c.1361A>G (p.Lys454Arg) c.1181A>G (p.Lys394Arg) c.1088A>G (p.Lys363Arg) c.1496A>G (p.Lys499Arg) | gnomAD v4 |
| 8 | g.140551387T>G | CA372320450 | AGO2 | c.1319A>C (p.Lys440Thr) c.*904A>C (n.*904A>C) c.1406A>C (p.Lys469Thr) c.1361A>C (p.Lys454Thr) c.1181A>C (p.Lys394Thr) c.1088A>C (p.Lys363Thr) c.1496A>C (p.Lys499Thr) | |
| 8 | g.140551388T>A | CA372320453 | AGO2 | c.1318A>T (p.Lys440Ter) c.*903A>T (n.*903A>T) c.1405A>T (p.Lys469Ter) c.1360A>T (p.Lys454Ter) c.1180A>T (p.Lys394Ter) c.1087A>T (p.Lys363Ter) c.1495A>T (p.Lys499Ter) | |
| 8 | g.140551388T>C | CA372320451 | AGO2 | c.1318A>G (p.Lys440Glu) c.*903A>G (n.*903A>G) c.1405A>G (p.Lys469Glu) c.1360A>G (p.Lys454Glu) c.1180A>G (p.Lys394Glu) c.1087A>G (p.Lys363Glu) c.1495A>G (p.Lys499Glu) | |
| 8 | g.140551388T>G | CA372320452 | AGO2 | c.1318A>C (p.Lys440Gln) c.*903A>C (n.*903A>C) c.1405A>C (p.Lys469Gln) c.1360A>C (p.Lys454Gln) c.1180A>C (p.Lys394Gln) c.1087A>C (p.Lys363Gln) c.1495A>C (p.Lys499Gln) | |
| 8 | g.140551389G>A | CA463242955 | AGO2 | c.1317C>T (p.Asn439=) c.*902C>T (n.*902C>T) c.1404C>T (p.Asn468=) c.1359C>T (p.Asn453=) c.1179C>T (p.Asn393=) c.1086C>T (p.Asn362=) c.1494C>T (p.Asn498=) | gnomAD v4 |
| 8 | g.140551389G>C | CA372320454 | AGO2 | c.1317C>G (p.Asn439Lys) c.*902C>G (n.*902C>G) c.1404C>G (p.Asn468Lys) c.1359C>G (p.Asn453Lys) c.1179C>G (p.Asn393Lys) c.1086C>G (p.Asn362Lys) c.1494C>G (p.Asn498Lys) | |
| 8 | g.140551389G>T | CA372320455 | AGO2 | c.1317C>A (p.Asn439Lys) c.*902C>A (n.*902C>A) c.1404C>A (p.Asn468Lys) c.1359C>A (p.Asn453Lys) c.1179C>A (p.Asn393Lys) c.1086C>A (p.Asn362Lys) c.1494C>A (p.Asn498Lys) | |
| 8 | g.140551390T>A | CA372320456 | AGO2 | c.1316A>T (p.Asn439Ile) c.*901A>T (n.*901A>T) c.1403A>T (p.Asn468Ile) c.1358A>T (p.Asn453Ile) c.1178A>T (p.Asn393Ile) c.1085A>T (p.Asn362Ile) c.1493A>T (p.Asn498Ile) | |
| 8 | g.140551390T>C | CA372320457 | AGO2 | c.1316A>G (p.Asn439Ser) c.*901A>G (n.*901A>G) c.1403A>G (p.Asn468Ser) c.1358A>G (p.Asn453Ser) c.1178A>G (p.Asn393Ser) c.1085A>G (p.Asn362Ser) c.1493A>G (p.Asn498Ser) | gnomAD v4 |
| 8 | g.140551390T>G | CA372320458 | AGO2 | c.1316A>C (p.Asn439Thr) c.*901A>C (n.*901A>C) c.1403A>C (p.Asn468Thr) c.1358A>C (p.Asn453Thr) c.1178A>C (p.Asn393Thr) c.1085A>C (p.Asn362Thr) c.1493A>C (p.Asn498Thr) | |
| 8 | g.140551391T>A | CA372320459 | AGO2 | c.1315A>T (p.Asn439Tyr) c.*900A>T (n.*900A>T) c.1402A>T (p.Asn468Tyr) c.1357A>T (p.Asn453Tyr) c.1177A>T (p.Asn393Tyr) c.1084A>T (p.Asn362Tyr) c.1492A>T (p.Asn498Tyr) | |
| 8 | g.140551391T>C | CA372320461 | AGO2 | c.1315A>G (p.Asn439Asp) c.*900A>G (n.*900A>G) c.1402A>G (p.Asn468Asp) c.1357A>G (p.Asn453Asp) c.1177A>G (p.Asn393Asp) c.1084A>G (p.Asn362Asp) c.1492A>G (p.Asn498Asp) | |
| 8 | g.140551391T>G | CA372320460 | AGO2 | c.1315A>C (p.Asn439His) c.*900A>C (n.*900A>C) c.1402A>C (p.Asn468His) c.1357A>C (p.Asn453His) c.1177A>C (p.Asn393His) c.1084A>C (p.Asn362His) c.1492A>C (p.Asn498His) | |
| 8 | g.140551392C>A | CA463242956 | AGO2 | c.1314G>T (p.Arg438=) c.*899G>T (n.*899G>T) c.1401G>T (p.Arg467=) c.1356G>T (p.Arg452=) c.1176G>T (p.Arg392=) c.1083G>T (p.Arg361=) c.1491G>T (p.Arg497=) | |
| 8 | g.140551392C= | CA1824690667 | AGO2 | c.1314G= (p.Arg438=) c.*899G= (n.*899G=) c.1401G= (p.Arg467=) c.1356G= (p.Arg452=) c.1176G= (p.Arg392=) c.1083G= (p.Arg361=) c.1491G= (p.Arg497=) | |
| 8 | g.140551392C>G | CA463242957 | AGO2 | c.1314G>C (p.Arg438=) c.*899G>C (n.*899G>C) c.1401G>C (p.Arg467=) c.1356G>C (p.Arg452=) c.1176G>C (p.Arg392=) c.1083G>C (p.Arg361=) c.1491G>C (p.Arg497=) | |
| 8 | g.140551392C>T | CA463242958 | AGO2 | c.1314G>A (p.Arg438=) c.*899G>A (n.*899G>A) c.1401G>A (p.Arg467=) c.1356G>A (p.Arg452=) c.1176G>A (p.Arg392=) c.1083G>A (p.Arg361=) c.1491G>A (p.Arg497=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.140551393C>A | CA372320462 | AGO2 | c.1313G>T (p.Arg438Leu) c.*898G>T (n.*898G>T) c.1400G>T (p.Arg467Leu) c.1355G>T (p.Arg452Leu) c.1175G>T (p.Arg392Leu) c.1082G>T (p.Arg361Leu) c.1490G>T (p.Arg497Leu) | |
| 8 | g.140551393C>G | CA372320464 | AGO2 | c.1313G>C (p.Arg438Pro) c.*898G>C (n.*898G>C) c.1400G>C (p.Arg467Pro) c.1355G>C (p.Arg452Pro) c.1175G>C (p.Arg392Pro) c.1082G>C (p.Arg361Pro) c.1490G>C (p.Arg497Pro) | |
| 8 | g.140551393C>T | CA372320463 | AGO2 | c.1313G>A (p.Arg438Gln) c.*898G>A (n.*898G>A) c.1400G>A (p.Arg467Gln) c.1355G>A (p.Arg452Gln) c.1175G>A (p.Arg392Gln) c.1082G>A (p.Arg361Gln) c.1490G>A (p.Arg497Gln) | gnomAD v4 COSMIC |
| 8 | g.140551394G>A | CA186535738 | AGO2 | c.1312C>T (p.Arg438Trp) c.*897C>T (n.*897C>T) c.1399C>T (p.Arg467Trp) c.1354C>T (p.Arg452Trp) c.1174C>T (p.Arg392Trp) c.1081C>T (p.Arg361Trp) c.1489C>T (p.Arg497Trp) | dbSNP gnomAD v4 COSMIC |
| 8 | g.140551394G>C | CA372320465 | AGO2 | c.1312C>G (p.Arg438Gly) c.*897C>G (n.*897C>G) c.1399C>G (p.Arg467Gly) c.1354C>G (p.Arg452Gly) c.1174C>G (p.Arg392Gly) c.1081C>G (p.Arg361Gly) c.1489C>G (p.Arg497Gly) | |
| 8 | g.140551394G= | CA1824690670 | AGO2 | c.1312C= (p.Arg438=) c.*897C= (n.*897C=) c.1399C= (p.Arg467=) c.1354C= (p.Arg452=) c.1174C= (p.Arg392=) c.1081C= (p.Arg361=) c.1489C= (p.Arg497=) | |
| 8 | g.140551394G>T | CA463242959 | AGO2 | c.1312C>A (p.Arg438=) c.*897C>A (n.*897C>A) c.1399C>A (p.Arg467=) c.1354C>A (p.Arg452=) c.1174C>A (p.Arg392=) c.1081C>A (p.Arg361=) c.1489C>A (p.Arg497=) | |
| 8 | g.140551395C>A | CA372320466 | AGO2 | c.1311G>T (p.Met437Ile) c.*896G>T (n.*896G>T) c.1398G>T (p.Met466Ile) c.1353G>T (p.Met451Ile) c.1173G>T (p.Met391Ile) c.1080G>T (p.Met360Ile) c.1488G>T (p.Met496Ile) | gnomAD v4 |
| 8 | g.140551395C>G | CA372320467 | AGO2 | c.1311G>C (p.Met437Ile) c.*896G>C (n.*896G>C) c.1398G>C (p.Met466Ile) c.1353G>C (p.Met451Ile) c.1173G>C (p.Met391Ile) c.1080G>C (p.Met360Ile) c.1488G>C (p.Met496Ile) | |
| 8 | g.140551395C>T | CA372320468 | AGO2 | c.1311G>A (p.Met437Ile) c.*896G>A (n.*896G>A) c.1398G>A (p.Met466Ile) c.1353G>A (p.Met451Ile) c.1173G>A (p.Met391Ile) c.1080G>A (p.Met360Ile) c.1488G>A (p.Met496Ile) | gnomAD v4 |
| 8 | g.140551396A>C | CA372320469 | AGO2 | c.1310T>G (p.Met437Arg) c.*895T>G (n.*895T>G) c.1397T>G (p.Met466Arg) c.1352T>G (p.Met451Arg) c.1172T>G (p.Met391Arg) c.1079T>G (p.Met360Arg) c.1487T>G (p.Met496Arg) | |
| 8 | g.140551396A>G | CA372320470 | AGO2 | c.1310T>C (p.Met437Thr) c.*895T>C (n.*895T>C) c.1397T>C (p.Met466Thr) c.1352T>C (p.Met451Thr) c.1172T>C (p.Met391Thr) c.1079T>C (p.Met360Thr) c.1487T>C (p.Met496Thr) | |
| 8 | g.140551396A>T | CA372320471 | AGO2 | c.1310T>A (p.Met437Lys) c.*895T>A (n.*895T>A) c.1397T>A (p.Met466Lys) c.1352T>A (p.Met451Lys) c.1172T>A (p.Met391Lys) c.1079T>A (p.Met360Lys) c.1487T>A (p.Met496Lys) | |
| 8 | g.140551397T>A | CA372320472 | AGO2 | c.1309A>T (p.Met437Leu) c.*894A>T (n.*894A>T) c.1396A>T (p.Met466Leu) c.1351A>T (p.Met451Leu) c.1171A>T (p.Met391Leu) c.1078A>T (p.Met360Leu) c.1486A>T (p.Met496Leu) | gnomAD v4 |
| 8 | g.140551397T>C | CA372320473 | AGO2 | c.1309A>G (p.Met437Val) c.*894A>G (n.*894A>G) c.1396A>G (p.Met466Val) c.1351A>G (p.Met451Val) c.1171A>G (p.Met391Val) c.1078A>G (p.Met360Val) c.1486A>G (p.Met496Val) | gnomAD v4 |
| 8 | g.140551397T>G | CA372320474 | AGO2 | c.1309A>C (p.Met437Leu) c.*894A>C (n.*894A>C) c.1396A>C (p.Met466Leu) c.1351A>C (p.Met451Leu) c.1171A>C (p.Met391Leu) c.1078A>C (p.Met360Leu) c.1486A>C (p.Met496Leu) | |
| 8 | g.140551398G>A | CA463242961 | AGO2 | c.1308C>T (p.Asp436=) c.*893C>T (n.*893C>T) c.1395C>T (p.Asp465=) c.1350C>T (p.Asp450=) c.1170C>T (p.Asp390=) c.1077C>T (p.Asp359=) c.1485C>T (p.Asp495=) | gnomAD v4 |
| 8 | g.140551398G>C | CA372320476 | AGO2 | c.1308C>G (p.Asp436Glu) c.*893C>G (n.*893C>G) c.1395C>G (p.Asp465Glu) c.1350C>G (p.Asp450Glu) c.1170C>G (p.Asp390Glu) c.1077C>G (p.Asp359Glu) c.1485C>G (p.Asp495Glu) | |
| 8 | g.140551398G>T | CA372320475 | AGO2 | c.1308C>A (p.Asp436Glu) c.*893C>A (n.*893C>A) c.1395C>A (p.Asp465Glu) c.1350C>A (p.Asp450Glu) c.1170C>A (p.Asp390Glu) c.1077C>A (p.Asp359Glu) c.1485C>A (p.Asp495Glu) | |
| 8 | g.140551399T>A | CA372320477 | AGO2 | c.1307A>T (p.Asp436Val) c.*892A>T (n.*892A>T) c.1394A>T (p.Asp465Val) c.1349A>T (p.Asp450Val) c.1169A>T (p.Asp390Val) c.1076A>T (p.Asp359Val) c.1484A>T (p.Asp495Val) | |
| 8 | g.140551399T>C | CA372320478 | AGO2 | c.1307A>G (p.Asp436Gly) c.*892A>G (n.*892A>G) c.1394A>G (p.Asp465Gly) c.1349A>G (p.Asp450Gly) c.1169A>G (p.Asp390Gly) c.1076A>G (p.Asp359Gly) c.1484A>G (p.Asp495Gly) | COSMIC |
| 8 | g.140551399T>G | CA372320479 | AGO2 | c.1307A>C (p.Asp436Ala) c.*892A>C (n.*892A>C) c.1394A>C (p.Asp465Ala) c.1349A>C (p.Asp450Ala) c.1169A>C (p.Asp390Ala) c.1076A>C (p.Asp359Ala) c.1484A>C (p.Asp495Ala) |