Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.29696060C>T | CA2656034956 | NF2 | c.*1258C>T (n.*1258C>T) c.*501+817C>T (n.*501+817C>T) c.*1318C>T (n.*1318C>T) c.*1333C>T (n.*1333C>T) n.3605C>T n.3528C>T | gnomAD v4 |
22 | g.29696062dup | CA10654001 | NF2 | c.*1260dup (n.*1260dup) c.*501+819dup (n.*501+819dup) c.*1320dup (n.*1320dup) c.*1335dup (n.*1335dup) n.3607dup n.3530dup | ClinVar dbSNP |
22 | g.29696061C>A | CA2656034964 | NF2 | c.*1259C>A (n.*1259C>A) c.*501+818C>A (n.*501+818C>A) c.*1319C>A (n.*1319C>A) c.*1334C>A (n.*1334C>A) n.3606C>A n.3529C>A | gnomAD v4 |
22 | g.29696061C>T | CA2656034961 | NF2 | c.*1259C>T (n.*1259C>T) c.*501+818C>T (n.*501+818C>T) c.*1319C>T (n.*1319C>T) c.*1334C>T (n.*1334C>T) n.3606C>T n.3529C>T | gnomAD v4 |
22 | g.29696061_29696065delinsCCTTT | CA2400692896 | NF2 | c.*1259_*1263delinsCCTTT (n.*1259_*1263delinsCCTTT) c.*501+818_*501+822delinsCCTTT (n.*501+818_*501+822delinsCCTTT) c.*1319_*1323delinsCCTTT (n.*1319_*1323delinsCCTTT) c.*1334_*1338delinsCCTTT (n.*1334_*1338delinsCCTTT) n.3606_3610delinsCCTTT n.3529_3533delinsCCTTT | |
22 | g.29696062_29696066del | CA2656034959 | NF2 | c.*1260_*1264del (n.*1260_*1264del) c.*501+819_*501+823del (n.*501+819_*501+823del) c.*1320_*1324del (n.*1320_*1324del) c.*1335_*1339del (n.*1335_*1339del) n.3607_3611del n.3530_3534del | gnomAD v4 |
22 | g.29696062C>A | CA2656034969 | NF2 | c.*1260C>A (n.*1260C>A) c.*501+819C>A (n.*501+819C>A) c.*1320C>A (n.*1320C>A) c.*1335C>A (n.*1335C>A) n.3607C>A n.3530C>A | gnomAD v4 |
22 | g.29696062C= | CA2400692897 | NF2 | c.*1260C= (n.*1260C=) c.*501+819C= (n.*501+819C=) c.*1320C= (n.*1320C=) c.*1335C= (n.*1335C=) n.3607C= n.3530C= | |
22 | g.29696066_29696069dup | CA2656034967 | NF2 | c.*1264_*1267dup (n.*1264_*1267dup) c.*501+823_*501+826dup (n.*501+823_*501+826dup) c.*1324_*1327dup (n.*1324_*1327dup) c.*1339_*1342dup (n.*1339_*1342dup) n.3611_3614dup n.3534_3537dup | gnomAD v4 |
22 | g.29696066_29696069del | CA323128868 | NF2 | c.*1264_*1267del (n.*1264_*1267del) c.*501+823_*501+826del (n.*501+823_*501+826del) c.*1324_*1327del (n.*1324_*1327del) c.*1339_*1342del (n.*1339_*1342del) n.3611_3614del n.3534_3537del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.29696063T>C | CA2656034985 | NF2 | c.*1261T>C (n.*1261T>C) c.*501+820T>C (n.*501+820T>C) c.*1321T>C (n.*1321T>C) c.*1336T>C (n.*1336T>C) n.3608T>C n.3531T>C | gnomAD v4 |
22 | g.29696065_29696066insATTT | CA2656034978 | NF2 | c.*1263_*1264insATTT (n.*1263_*1264insATTT) c.*501+822_*501+823insATTT (n.*501+822_*501+823insATTT) c.*1323_*1324insATTT (n.*1323_*1324insATTT) c.*1338_*1339insATTT (n.*1338_*1339insATTT) n.3610_3611insATTT n.3533_3534insATTT | gnomAD v4 |
22 | g.29696065_29696066insATTTT | CA2818694958 | NF2 | c.*1263_*1264insATTTT (n.*1263_*1264insATTTT) c.*501+822_*501+823insATTTT (n.*501+822_*501+823insATTTT) c.*1323_*1324insATTTT (n.*1323_*1324insATTTT) c.*1338_*1339insATTTT (n.*1338_*1339insATTTT) n.3610_3611insATTTT n.3533_3534insATTTT | |
22 | g.29696065_29696066insTTTTTTTTTTTTTTTTTTT | CA638997309 | NF2 | c.*1263_*1264insTTTTTTTTTTTTTTTTTTT (n.*1263_*1264insTTTTTTTTTTTTTTTTTTT) c.*501+822_*501+823insTTTTTTTTTTTTTTTTTTT (n.*501+822_*501+823insTTTTTTTTTTTTTTTTTTT) c.*1323_*1324insTTTTTTTTTTTTTTTTTTT (n.*1323_*1324insTTTTTTTTTTTTTTTTTTT) c.*1338_*1339insTTTTTTTTTTTTTTTTTTT (n.*1338_*1339insTTTTTTTTTTTTTTTTTTT) n.3610_3611insTTTTTTTTTTTTTTTTTTT n.3533_3534insTTTTTTTTTTTTTTTTTTT | gnomAD v2 |
22 | g.29696065dup | CA1024927385 | NF2 | c.*1263dup (n.*1263dup) c.*501+822dup (n.*501+822dup) c.*1323dup (n.*1323dup) c.*1338dup (n.*1338dup) n.3610dup n.3533dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.29696064_29696065dup | CA2656034976 | NF2 | c.*1262_*1263dup (n.*1262_*1263dup) c.*501+821_*501+822dup (n.*501+821_*501+822dup) c.*1322_*1323dup (n.*1322_*1323dup) c.*1337_*1338dup (n.*1337_*1338dup) n.3609_3610dup n.3532_3533dup | gnomAD v4 |
22 | g.29696065del | CA2818694959 | NF2 | c.*1263del (n.*1263del) c.*501+822del (n.*501+822del) c.*1323del (n.*1323del) c.*1338del (n.*1338del) n.3610del n.3533del | |
22 | g.29696063_29696066delinsTTTC | CA2400692898 | NF2 | c.*1261_*1264delinsTTTC (n.*1261_*1264delinsTTTC) c.*501+820_*501+823delinsTTTC (n.*501+820_*501+823delinsTTTC) c.*1321_*1324delinsTTTC (n.*1321_*1324delinsTTTC) c.*1336_*1339delinsTTTC (n.*1336_*1339delinsTTTC) n.3608_3611delinsTTTC n.3531_3534delinsTTTC | |
22 | g.29696066_29696070del | CA2656034980 | NF2 | c.*1264_*1268del (n.*1264_*1268del) c.*501+823_*501+827del (n.*501+823_*501+827del) c.*1324_*1328del (n.*1324_*1328del) c.*1339_*1343del (n.*1339_*1343del) n.3611_3615del n.3534_3538del | gnomAD v4 |
22 | g.29696066_29696071dup | CA638997308 | NF2 | c.*1264_*1269dup (n.*1264_*1269dup) c.*501+823_*501+828dup (n.*501+823_*501+828dup) c.*1324_*1329dup (n.*1324_*1329dup) c.*1339_*1344dup (n.*1339_*1344dup) n.3611_3616dup n.3534_3539dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.29696066_29696072dup | CA2741711497 | NF2 | c.*1264_*1270dup (n.*1264_*1270dup) c.*501+823_*501+829dup (n.*501+823_*501+829dup) c.*1324_*1330dup (n.*1324_*1330dup) c.*1339_*1345dup (n.*1339_*1345dup) n.3611_3617dup n.3534_3540dup | |
22 | g.29696066_29696072del | CA2656034982 | NF2 | c.*1264_*1270del (n.*1264_*1270del) c.*501+823_*501+829del (n.*501+823_*501+829del) c.*1324_*1330del (n.*1324_*1330del) c.*1339_*1345del (n.*1339_*1345del) n.3611_3617del n.3534_3540del | gnomAD v4 |
22 | g.29696064T>G | CA2656034998 | NF2 | c.*1262T>G (n.*1262T>G) c.*501+821T>G (n.*501+821T>G) c.*1322T>G (n.*1322T>G) c.*1337T>G (n.*1337T>G) n.3609T>G n.3532T>G | gnomAD v4 |
22 | g.29696065_29696066insATT | CA2656034996 | NF2 | c.*1263_*1264insATT (n.*1263_*1264insATT) c.*501+822_*501+823insATT (n.*501+822_*501+823insATT) c.*1323_*1324insATT (n.*1323_*1324insATT) c.*1338_*1339insATT (n.*1338_*1339insATT) n.3610_3611insATT n.3533_3534insATT | gnomAD v4 |
22 | g.29696066_29696068del | CA638997310 | NF2 | c.*1264_*1266del (n.*1264_*1266del) c.*501+823_*501+825del (n.*501+823_*501+825del) c.*1324_*1326del (n.*1324_*1326del) c.*1339_*1341del (n.*1339_*1341del) n.3611_3613del n.3534_3536del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.29696065T>C | CA2656035000 | NF2 | c.*1263T>C (n.*1263T>C) c.*501+822T>C (n.*501+822T>C) c.*1323T>C (n.*1323T>C) c.*1338T>C (n.*1338T>C) n.3610T>C n.3533T>C | gnomAD v4 |
22 | g.29696065_29696066insAT | CA2656035002 | NF2 | c.*1263_*1264insAT (n.*1263_*1264insAT) c.*501+822_*501+823insAT (n.*501+822_*501+823insAT) c.*1323_*1324insAT (n.*1323_*1324insAT) c.*1338_*1339insAT (n.*1338_*1339insAT) n.3610_3611insAT n.3533_3534insAT | gnomAD v4 |
22 | g.29696065_29696066delinsTC | CA2400692899 | NF2 | c.*1263_*1264delinsTC (n.*1263_*1264delinsTC) c.*501+822_*501+823delinsTC (n.*501+822_*501+823delinsTC) c.*1323_*1324delinsTC (n.*1323_*1324delinsTC) c.*1338_*1339delinsTC (n.*1338_*1339delinsTC) n.3610_3611delinsTC n.3533_3534delinsTC | |
22 | g.29696066_29696067del | CA2656035004 | NF2 | c.*1264_*1265del (n.*1264_*1265del) c.*501+823_*501+824del (n.*501+823_*501+824del) c.*1324_*1325del (n.*1324_*1325del) c.*1339_*1340del (n.*1339_*1340del) n.3611_3612del n.3534_3535del | gnomAD v4 |
22 | g.29696065_29696066insA | CA2656035017 | NF2 | c.*1263_*1264insA (n.*1263_*1264insA) c.*501+822_*501+823insA (n.*501+822_*501+823insA) c.*1323_*1324insA (n.*1323_*1324insA) c.*1338_*1339insA (n.*1338_*1339insA) n.3610_3611insA n.3533_3534insA | gnomAD v4 |
22 | g.29696066del | CA10653303 | NF2 | c.*1264del (n.*1264del) c.*501+823del (n.*501+823del) c.*1324del (n.*1324del) c.*1339del (n.*1339del) n.3611del n.3534del | ClinVar dbSNP gnomAD v4 |
22 | g.29696066C>A | CA1024927400 | NF2 | c.*1264C>A (n.*1264C>A) c.*501+823C>A (n.*501+823C>A) c.*1324C>A (n.*1324C>A) c.*1339C>A (n.*1339C>A) n.3611C>A n.3534C>A | gnomAD v3 gnomAD v4 |
22 | g.29696066C= | CA2400692902 | NF2 | c.*1264C= (n.*1264C=) c.*501+823C= (n.*501+823C=) c.*1324C= (n.*1324C=) c.*1339C= (n.*1339C=) n.3611C= n.3534C= | |
22 | g.29696066C>G | CA2400692901 | NF2 | c.*1264C>G (n.*1264C>G) c.*501+823C>G (n.*501+823C>G) c.*1324C>G (n.*1324C>G) c.*1339C>G (n.*1339C>G) n.3611C>G n.3534C>G | dbSNP |
22 | g.29696066C>T | CA10654002 | NF2 | c.*1264C>T (n.*1264C>T) c.*501+823C>T (n.*501+823C>T) c.*1324C>T (n.*1324C>T) c.*1339C>T (n.*1339C>T) n.3611C>T n.3534C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.29696066_29696080delinsCTTTTTTTTTTTTTT | CA2400692900 | NF2 | c.*1264_*1278delinsCTTTTTTTTTTTTTT (n.*1264_*1278delinsCTTTTTTTTTTTTTT) c.*501+823_*501+837delinsCTTTTTTTTTTTTTT (n.*501+823_*501+837delinsCTTTTTTTTTTTTTT) c.*1324_*1338delinsCTTTTTTTTTTTTTT (n.*1324_*1338delinsCTTTTTTTTTTTTTT) c.*1339_*1353delinsCTTTTTTTTTTTTTT (n.*1339_*1353delinsCTTTTTTTTTTTTTT) n.3611_3625delinsCTTTTTTTTTTTTTT n.3534_3548delinsCTTTTTTTTTTTTTT | |
22 | g.29696066_29696067insCT | CA2818694973 | NF2 | c.*1264_*1265insCT (n.*1264_*1265insCT) c.*501+823_*501+824insCT (n.*501+823_*501+824insCT) c.*1324_*1325insCT (n.*1324_*1325insCT) c.*1339_*1340insCT (n.*1339_*1340insCT) n.3611_3612insCT n.3534_3535insCT | |
22 | g.29696067T>A | CA2656035066 | NF2 | c.*1265T>A (n.*1265T>A) c.*501+824T>A (n.*501+824T>A) c.*1325T>A (n.*1325T>A) c.*1340T>A (n.*1340T>A) n.3612T>A n.3535T>A | gnomAD v4 |
22 | g.29696067T>C | CA2656035065 | NF2 | c.*1265T>C (n.*1265T>C) c.*501+824T>C (n.*501+824T>C) c.*1325T>C (n.*1325T>C) c.*1340T>C (n.*1340T>C) n.3612T>C n.3535T>C | gnomAD v4 |
22 | g.29696067T= | CA2695202037 | NF2 | c.*1265T= (n.*1265T=) c.*501+824T= (n.*501+824T=) c.*1325T= (n.*1325T=) c.*1340T= (n.*1340T=) n.3612T= n.3535T= | |
22 | g.29696089_29696090insTTTTTTTTTTTTTTTTTTTTTTTT | CA1024927446 | NF2 | c.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTT (n.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTT) c.*501+846_*501+847insTTTTTTTTTTTTTTTTTTTTTTTT (n.*501+846_*501+847insTTTTTTTTTTTTTTTTTTTTTTTT) c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT (n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT) c.*1362_*1363insTTTTTTTTTTTTTTTTTTTTTTTT (n.*1362_*1363insTTTTTTTTTTTTTTTTTTTTTTTT) n.3634_3635insTTTTTTTTTTTTTTTTTTTTTTTT n.3557_3558insTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
22 | g.29696089_29696090insTTTTTTTTTTTTTTTTTTTTTTTTT | CA1024927508 | NF2 | c.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTT) c.*501+846_*501+847insTTTTTTTTTTTTTTTTTTTTTTTTT (n.*501+846_*501+847insTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1362_*1363insTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1362_*1363insTTTTTTTTTTTTTTTTTTTTTTTTT) n.3634_3635insTTTTTTTTTTTTTTTTTTTTTTTTT n.3557_3558insTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
22 | g.29696089_29696090insTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1024927463 | NF2 | c.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*501+846_*501+847insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*501+846_*501+847insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1362_*1363insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1362_*1363insTTTTTTTTTTTTTTTTTTTTTTTTTT) n.3634_3635insTTTTTTTTTTTTTTTTTTTTTTTTTT n.3557_3558insTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
22 | g.29696089_29696090insTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1024927507 | NF2 | c.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*501+846_*501+847insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*501+846_*501+847insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1362_*1363insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1362_*1363insTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.3634_3635insTTTTTTTTTTTTTTTTTTTTTTTTTTT n.3557_3558insTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
22 | g.29696089_29696090insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT | CA1024927462 | NF2 | c.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT) c.*501+846_*501+847insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT (n.*501+846_*501+847insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1362_*1363insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1362_*1363insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT) n.3634_3635insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT n.3557_3558insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
22 | g.29696089dup | CA10651003 | NF2 | c.*1287dup (n.*1287dup) c.*501+846dup (n.*501+846dup) c.*1347dup (n.*1347dup) c.*1362dup (n.*1362dup) n.3634dup n.3557dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.29696088_29696089dup | CA638997313 | NF2 | c.*1286_*1287dup (n.*1286_*1287dup) c.*501+845_*501+846dup (n.*501+845_*501+846dup) c.*1346_*1347dup (n.*1346_*1347dup) c.*1361_*1362dup (n.*1361_*1362dup) n.3633_3634dup n.3556_3557dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.29696087_29696089dup | CA752251069 | NF2 | c.*1285_*1287dup (n.*1285_*1287dup) c.*501+844_*501+846dup (n.*501+844_*501+846dup) c.*1345_*1347dup (n.*1345_*1347dup) c.*1360_*1362dup (n.*1360_*1362dup) n.3632_3634dup n.3555_3557dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.29696086_29696089dup | CA638997312 | NF2 | c.*1284_*1287dup (n.*1284_*1287dup) c.*501+843_*501+846dup (n.*501+843_*501+846dup) c.*1344_*1347dup (n.*1344_*1347dup) c.*1359_*1362dup (n.*1359_*1362dup) n.3631_3634dup n.3554_3557dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.29696085_29696089dup | CA638997311 | NF2 | c.*1283_*1287dup (n.*1283_*1287dup) c.*501+842_*501+846dup (n.*501+842_*501+846dup) c.*1343_*1347dup (n.*1343_*1347dup) c.*1358_*1362dup (n.*1358_*1362dup) n.3630_3634dup n.3553_3557dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |