Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.29681413_29681446del | CA645601216 | NF2 | c.1440-26_1447del c.*1069-26_*1076del c.1575-26_1582del c.993-26_1000del c.*1457-26_*1464del c.1594-26_1601del c.1326-26_1333del c.1452-26_1459del c.1449-26_1456del c.1488-26_1495del c.448-13339_448-13306del (n.448-13339_448-13306del) c.*93+3090_*93+3123del (n.*93+3090_*93+3123del) n.2134-26_2141del c.1461-26_1468del n.2057-26_2064del | COSMIC |
22 | g.29681439_29681601del | CA645601219 | NF2 | c.1440_1602del c.*1069_*1231del c.1575_1737del c.993_1155del c.*1457_*1619del c.1594_1756del c.1326_1488del c.1452_1614del c.1449_1611del c.1488_1650del c.448-13313_448-13151del (n.448-13313_448-13151del) c.*93+3116_*93+3278del (n.*93+3116_*93+3278del) n.2134_2296del c.1461_1623del n.2057_2219del | COSMIC |
22 | g.29681439del | CA913187477 | NF2 | c.1440del (p.Val481TrpfsTer24) c.*1069del (n.*1069del) c.1575del (p.Val526TrpfsTer24) c.993del (p.Val332TrpfsTer24) c.*1457del (n.*1457del) c.1594del (n.1594del) c.1326del (p.Val443TrpfsTer24) c.1452del (p.Val485TrpfsTer24) c.1449del (p.Val484TrpfsTer24) c.1488del (p.Val497TrpfsTer24) c.448-13313del (n.448-13313del) c.*93+3116del (n.*93+3116del) n.2134del c.1461del (p.Val488TrpfsTer24) n.2057del | |
22 | g.29681439A= | CA2400686798 | NF2 | c.1440A= (p.Lys480=) c.*1069A= (n.*1069A=) c.1575A= (p.Lys525=) c.993A= (p.Lys331=) c.*1457A= (n.*1457A=) c.1594A= (n.1594A=) c.1326A= (p.Lys442=) c.1452A= (p.Lys484=) c.1449A= (p.Lys483=) c.1488A= (p.Lys496=) c.448-13313A= (n.448-13313A=) c.*93+3116A= (n.*93+3116A=) n.2134A= c.1461A= (p.Lys487=) n.2057A= | |
22 | g.29681439A>C | CA411149985 | NF2 | c.1440A>C (p.Lys480Asn) c.*1069A>C (n.*1069A>C) c.1575A>C (p.Lys525Asn) c.993A>C (p.Lys331Asn) c.*1457A>C (n.*1457A>C) c.1594A>C (n.1594A>C) c.1326A>C (p.Lys442Asn) c.1452A>C (p.Lys484Asn) c.1449A>C (p.Lys483Asn) c.1488A>C (p.Lys496Asn) c.448-13313A>C (n.448-13313A>C) c.*93+3116A>C (n.*93+3116A>C) n.2134A>C c.1461A>C (p.Lys487Asn) n.2057A>C | ClinVar dbSNP gnomAD v4 |
22 | g.29681439A>G | CA16616591 | NF2 | c.1440A>G (p.Lys480=) c.*1069A>G (n.*1069A>G) c.1575A>G (p.Lys525=) c.993A>G (p.Lys331=) c.*1457A>G (n.*1457A>G) c.1594A>G (n.1594A>G) c.1326A>G (p.Lys442=) c.1452A>G (p.Lys484=) c.1449A>G (p.Lys483=) c.1488A>G (p.Lys496=) c.448-13313A>G (n.448-13313A>G) c.*93+3116A>G (n.*93+3116A>G) n.2134A>G c.1461A>G (p.Lys487=) n.2057A>G | ClinVar dbSNP gnomAD v4 |
22 | g.29681439A>T | CA411149986 | NF2 | c.1440A>T (p.Lys480Asn) c.*1069A>T (n.*1069A>T) c.1575A>T (p.Lys525Asn) c.993A>T (p.Lys331Asn) c.*1457A>T (n.*1457A>T) c.1594A>T (n.1594A>T) c.1326A>T (p.Lys442Asn) c.1452A>T (p.Lys484Asn) c.1449A>T (p.Lys483Asn) c.1488A>T (p.Lys496Asn) c.448-13313A>T (n.448-13313A>T) c.*93+3116A>T (n.*93+3116A>T) n.2134A>T c.1461A>T (p.Lys487Asn) n.2057A>T | |
22 | g.29681439_29681440delinsGA | CA2695230520 | NF2 | c.1440_1441delinsGA (p.Val481Met) c.*1069_*1070delinsGA (n.*1069_*1070delinsGA) c.1575_1576delinsGA (p.Val526Met) c.993_994delinsGA (p.Val332Met) c.*1457_*1458delinsGA (n.*1457_*1458delinsGA) c.1594_1595delinsGA (n.1594_1595delinsGA) c.1326_1327delinsGA (p.Val443Met) c.1452_1453delinsGA (p.Val485Met) c.1449_1450delinsGA (p.Val484Met) c.1488_1489delinsGA (p.Val497Met) c.448-13313_448-13312delinsGA (n.448-13313_448-13312delinsGA) c.*93+3116_*93+3117delinsGA (n.*93+3116_*93+3117delinsGA) n.2134_2135delinsGA c.1461_1462delinsGA (p.Val488Met) n.2057_2058delinsGA | |
22 | g.29681440G>A | CA411149987 | NF2 | c.1441G>A (p.Val481Met) c.*1070G>A (n.*1070G>A) c.1576G>A (p.Val526Met) c.994G>A (p.Val332Met) c.*1458G>A (n.*1458G>A) c.1595G>A (n.1595G>A) c.1327G>A (p.Val443Met) c.1453G>A (p.Val485Met) c.1450G>A (p.Val484Met) c.1489G>A (p.Val497Met) c.448-13312G>A (n.448-13312G>A) c.*93+3117G>A (n.*93+3117G>A) n.2135G>A c.1462G>A (p.Val488Met) n.2058G>A | ClinVar gnomAD v4 |
22 | g.29681440G>C | CA411149988 | NF2 | c.1441G>C (p.Val481Leu) c.*1070G>C (n.*1070G>C) c.1576G>C (p.Val526Leu) c.994G>C (p.Val332Leu) c.*1458G>C (n.*1458G>C) c.1595G>C (n.1595G>C) c.1327G>C (p.Val443Leu) c.1453G>C (p.Val485Leu) c.1450G>C (p.Val484Leu) c.1489G>C (p.Val497Leu) c.448-13312G>C (n.448-13312G>C) c.*93+3117G>C (n.*93+3117G>C) n.2135G>C c.1462G>C (p.Val488Leu) n.2058G>C | |
22 | g.29681440G>T | CA411149989 | NF2 | c.1441G>T (p.Val481Leu) c.*1070G>T (n.*1070G>T) c.1576G>T (p.Val526Leu) c.994G>T (p.Val332Leu) c.*1458G>T (n.*1458G>T) c.1595G>T (n.1595G>T) c.1327G>T (p.Val443Leu) c.1453G>T (p.Val485Leu) c.1450G>T (p.Val484Leu) c.1489G>T (p.Val497Leu) c.448-13312G>T (n.448-13312G>T) c.*93+3117G>T (n.*93+3117G>T) n.2135G>T c.1462G>T (p.Val488Leu) n.2058G>T | |
22 | g.29681441T>A | CA411149992 | NF2 | c.1442T>A (p.Val481Glu) c.*1071T>A (n.*1071T>A) c.1577T>A (p.Val526Glu) c.995T>A (p.Val332Glu) c.*1459T>A (n.*1459T>A) c.1596T>A (n.1596T>A) c.1328T>A (p.Val443Glu) c.1454T>A (p.Val485Glu) c.1451T>A (p.Val484Glu) c.1490T>A (p.Val497Glu) c.448-13311T>A (n.448-13311T>A) c.*93+3118T>A (n.*93+3118T>A) n.2136T>A c.1463T>A (p.Val488Glu) n.2059T>A | |
22 | g.29681441T>C | CA411149990 | NF2 | c.1442T>C (p.Val481Ala) c.*1071T>C (n.*1071T>C) c.1577T>C (p.Val526Ala) c.995T>C (p.Val332Ala) c.*1459T>C (n.*1459T>C) c.1596T>C (n.1596T>C) c.1328T>C (p.Val443Ala) c.1454T>C (p.Val485Ala) c.1451T>C (p.Val484Ala) c.1490T>C (p.Val497Ala) c.448-13311T>C (n.448-13311T>C) c.*93+3118T>C (n.*93+3118T>C) n.2136T>C c.1463T>C (p.Val488Ala) n.2059T>C | dbSNP |
22 | g.29681441T>G | CA411149991 | NF2 | c.1442T>G (p.Val481Gly) c.*1071T>G (n.*1071T>G) c.1577T>G (p.Val526Gly) c.995T>G (p.Val332Gly) c.*1459T>G (n.*1459T>G) c.1596T>G (n.1596T>G) c.1328T>G (p.Val443Gly) c.1454T>G (p.Val485Gly) c.1451T>G (p.Val484Gly) c.1490T>G (p.Val497Gly) c.448-13311T>G (n.448-13311T>G) c.*93+3118T>G (n.*93+3118T>G) n.2136T>G c.1463T>G (p.Val488Gly) n.2059T>G | |
22 | g.29681441_29681450del | CA2695230521 | NF2 | c.1442_1451del (p.Val481GlyfsTer21) c.*1071_*1080del (n.*1071_*1080del) c.1577_1586del (p.Val526GlyfsTer21) c.995_1004del (p.Val332GlyfsTer21) c.*1459_*1468del (n.*1459_*1468del) c.1596_1605del (n.1596_1605del) c.1328_1337del (p.Val443GlyfsTer21) c.1454_1463del (p.Val485GlyfsTer21) c.1451_1460del (p.Val484GlyfsTer21) c.1490_1499del (p.Val497GlyfsTer21) c.448-13311_448-13302del (n.448-13311_448-13302del) c.*93+3118_*93+3127del (n.*93+3118_*93+3127del) n.2136_2145del c.1463_1472del (p.Val488GlyfsTer21) n.2059_2068del | |
22 | g.29681442G>A | CA514190321 | NF2 | c.1443G>A (p.Val481=) c.*1072G>A (n.*1072G>A) c.1578G>A (p.Val526=) c.996G>A (p.Val332=) c.*1460G>A (n.*1460G>A) c.1597G>A (n.1597G>A) c.1329G>A (p.Val443=) c.1455G>A (p.Val485=) c.1452G>A (p.Val484=) c.1491G>A (p.Val497=) c.448-13310G>A (n.448-13310G>A) c.*93+3119G>A (n.*93+3119G>A) n.2137G>A c.1464G>A (p.Val488=) n.2060G>A | |
22 | g.29681442G>C | CA514190323 | NF2 | c.1443G>C (p.Val481=) c.*1072G>C (n.*1072G>C) c.1578G>C (p.Val526=) c.996G>C (p.Val332=) c.*1460G>C (n.*1460G>C) c.1597G>C (n.1597G>C) c.1329G>C (p.Val443=) c.1455G>C (p.Val485=) c.1452G>C (p.Val484=) c.1491G>C (p.Val497=) c.448-13310G>C (n.448-13310G>C) c.*93+3119G>C (n.*93+3119G>C) n.2137G>C c.1464G>C (p.Val488=) n.2060G>C | |
22 | g.29681442G>T | CA514190324 | NF2 | c.1443G>T (p.Val481=) c.*1072G>T (n.*1072G>T) c.1578G>T (p.Val526=) c.996G>T (p.Val332=) c.*1460G>T (n.*1460G>T) c.1597G>T (n.1597G>T) c.1329G>T (p.Val443=) c.1455G>T (p.Val485=) c.1452G>T (p.Val484=) c.1491G>T (p.Val497=) c.448-13310G>T (n.448-13310G>T) c.*93+3119G>T (n.*93+3119G>T) n.2137G>T c.1464G>T (p.Val488=) n.2060G>T | |
22 | g.29681442_29681445del | CA645601221 | NF2 | c.1443_1446del (p.Glu482ThrfsTer22) c.*1072_*1075del (n.*1072_*1075del) c.1578_1581del (p.Glu527ThrfsTer22) c.996_999del (p.Glu333ThrfsTer22) c.*1460_*1463del (n.*1460_*1463del) c.1597_1600del (n.1597_1600del) c.1329_1332del (p.Glu444ThrfsTer22) c.1455_1458del (p.Glu486ThrfsTer22) c.1452_1455del (p.Glu485ThrfsTer22) c.1491_1494del (p.Glu498ThrfsTer22) c.448-13310_448-13307del (n.448-13310_448-13307del) c.*93+3119_*93+3122del (n.*93+3119_*93+3122del) n.2137_2140del c.1464_1467del (p.Glu489ThrfsTer22) n.2060_2063del | COSMIC |
22 | g.29681443G>A | CA411149993 | NF2 | c.1444G>A (p.Glu482Lys) c.*1073G>A (n.*1073G>A) c.1579G>A (p.Glu527Lys) c.997G>A (p.Glu333Lys) c.*1461G>A (n.*1461G>A) c.1598G>A (n.1598G>A) c.1330G>A (p.Glu444Lys) c.1456G>A (p.Glu486Lys) c.1453G>A (p.Glu485Lys) c.1492G>A (p.Glu498Lys) c.448-13309G>A (n.448-13309G>A) c.*93+3120G>A (n.*93+3120G>A) n.2138G>A c.1465G>A (p.Glu489Lys) n.2061G>A | ClinVar |
22 | g.29681443G>C | CA411149994 | NF2 | c.1444G>C (p.Glu482Gln) c.*1073G>C (n.*1073G>C) c.1579G>C (p.Glu527Gln) c.997G>C (p.Glu333Gln) c.*1461G>C (n.*1461G>C) c.1598G>C (n.1598G>C) c.1330G>C (p.Glu444Gln) c.1456G>C (p.Glu486Gln) c.1453G>C (p.Glu485Gln) c.1492G>C (p.Glu498Gln) c.448-13309G>C (n.448-13309G>C) c.*93+3120G>C (n.*93+3120G>C) n.2138G>C c.1465G>C (p.Glu489Gln) n.2061G>C | |
22 | g.29681443G= | CA2400686799 | NF2 | c.1444G= (p.Glu482=) c.*1073G= (n.*1073G=) c.1579G= (p.Glu527=) c.997G= (p.Glu333=) c.*1461G= (n.*1461G=) c.1598G= (n.1598G=) c.1330G= (p.Glu444=) c.1456G= (p.Glu486=) c.1453G= (p.Glu485=) c.1492G= (p.Glu498=) c.448-13309G= (n.448-13309G=) c.*93+3120G= (n.*93+3120G=) n.2138G= c.1465G= (p.Glu489=) n.2061G= | |
22 | g.29681443G>T | CA021349 | NF2 | c.1444G>T (p.Glu482Ter) c.*1073G>T (n.*1073G>T) c.1579G>T (p.Glu527Ter) c.997G>T (p.Glu333Ter) c.*1461G>T (n.*1461G>T) c.1598G>T (n.1598G>T) c.1330G>T (p.Glu444Ter) c.1456G>T (p.Glu486Ter) c.1453G>T (p.Glu485Ter) c.1492G>T (p.Glu498Ter) c.448-13309G>T (n.448-13309G>T) c.*93+3120G>T (n.*93+3120G>T) n.2138G>T c.1465G>T (p.Glu489Ter) n.2061G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.29681443_29681446del | CA645601222 | NF2 | c.1444_1447del (p.Glu482ThrfsTer22) c.*1073_*1076del (n.*1073_*1076del) c.1579_1582del (p.Glu527ThrfsTer22) c.997_1000del (p.Glu333ThrfsTer22) c.*1461_*1464del (n.*1461_*1464del) c.1598_1601del (n.1598_1601del) c.1330_1333del (p.Glu444ThrfsTer22) c.1456_1459del (p.Glu486ThrfsTer22) c.1453_1456del (p.Glu485ThrfsTer22) c.1492_1495del (p.Glu498ThrfsTer22) c.448-13309_448-13306del (n.448-13309_448-13306del) c.*93+3120_*93+3123del (n.*93+3120_*93+3123del) n.2138_2141del c.1465_1468del (p.Glu489ThrfsTer22) n.2061_2064del | COSMIC |
22 | g.29681444A= | CA2400686800 | NF2 | c.1445A= (p.Glu482=) c.*1074A= (n.*1074A=) c.1580A= (p.Glu527=) c.998A= (p.Glu333=) c.*1462A= (n.*1462A=) c.1599A= (n.1599A=) c.1331A= (p.Glu444=) c.1457A= (p.Glu486=) c.1454A= (p.Glu485=) c.1493A= (p.Glu498=) c.448-13308A= (n.448-13308A=) c.*93+3121A= (n.*93+3121A=) n.2139A= c.1466A= (p.Glu489=) n.2062A= | |
22 | g.29681444A>C | CA411149995 | NF2 | c.1445A>C (p.Glu482Ala) c.*1074A>C (n.*1074A>C) c.1580A>C (p.Glu527Ala) c.998A>C (p.Glu333Ala) c.*1462A>C (n.*1462A>C) c.1599A>C (n.1599A>C) c.1331A>C (p.Glu444Ala) c.1457A>C (p.Glu486Ala) c.1454A>C (p.Glu485Ala) c.1493A>C (p.Glu498Ala) c.448-13308A>C (n.448-13308A>C) c.*93+3121A>C (n.*93+3121A>C) n.2139A>C c.1466A>C (p.Glu489Ala) n.2062A>C | |
22 | g.29681444A>G | CA411149996 | NF2 | c.1445A>G (p.Glu482Gly) c.*1074A>G (n.*1074A>G) c.1580A>G (p.Glu527Gly) c.998A>G (p.Glu333Gly) c.*1462A>G (n.*1462A>G) c.1599A>G (n.1599A>G) c.1331A>G (p.Glu444Gly) c.1457A>G (p.Glu486Gly) c.1454A>G (p.Glu485Gly) c.1493A>G (p.Glu498Gly) c.448-13308A>G (n.448-13308A>G) c.*93+3121A>G (n.*93+3121A>G) n.2139A>G c.1466A>G (p.Glu489Gly) n.2062A>G | |
22 | g.29681444A>T | CA411149997 | NF2 | c.1445A>T (p.Glu482Val) c.*1074A>T (n.*1074A>T) c.1580A>T (p.Glu527Val) c.998A>T (p.Glu333Val) c.*1462A>T (n.*1462A>T) c.1599A>T (n.1599A>T) c.1331A>T (p.Glu444Val) c.1457A>T (p.Glu486Val) c.1454A>T (p.Glu485Val) c.1493A>T (p.Glu498Val) c.448-13308A>T (n.448-13308A>T) c.*93+3121A>T (n.*93+3121A>T) n.2139A>T c.1466A>T (p.Glu489Val) n.2062A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
22 | g.29681445del | CA2695230522 | NF2 | c.1446del (p.Glu482AspfsTer23) c.*1075del (n.*1075del) c.1581del (p.Glu527AspfsTer23) c.999del (p.Glu333AspfsTer23) c.*1463del (n.*1463del) c.1600del (n.1600del) c.1332del (p.Glu444AspfsTer23) c.1458del (p.Glu486AspfsTer23) c.1455del (p.Glu485AspfsTer23) c.1494del (p.Glu498AspfsTer23) c.448-13307del (n.448-13307del) c.*93+3122del (n.*93+3122del) n.2140del c.1467del (p.Glu489AspfsTer23) n.2063del | |
22 | g.29681445A= | CA2400686801 | NF2 | c.1446A= (p.Glu482=) c.*1075A= (n.*1075A=) c.1581A= (p.Glu527=) c.999A= (p.Glu333=) c.*1463A= (n.*1463A=) c.1600A= (n.1600A=) c.1332A= (p.Glu444=) c.1458A= (p.Glu486=) c.1455A= (p.Glu485=) c.1494A= (p.Glu498=) c.448-13307A= (n.448-13307A=) c.*93+3122A= (n.*93+3122A=) n.2140A= c.1467A= (p.Glu489=) n.2063A= | |
22 | g.29681445A>C | CA411149998 | NF2 | c.1446A>C (p.Glu482Asp) c.*1075A>C (n.*1075A>C) c.1581A>C (p.Glu527Asp) c.999A>C (p.Glu333Asp) c.*1463A>C (n.*1463A>C) c.1600A>C (n.1600A>C) c.1332A>C (p.Glu444Asp) c.1458A>C (p.Glu486Asp) c.1455A>C (p.Glu485Asp) c.1494A>C (p.Glu498Asp) c.448-13307A>C (n.448-13307A>C) c.*93+3122A>C (n.*93+3122A>C) n.2140A>C c.1467A>C (p.Glu489Asp) n.2063A>C | |
22 | g.29681445A>G | CA514190325 | NF2 | c.1446A>G (p.Glu482=) c.*1075A>G (n.*1075A>G) c.1581A>G (p.Glu527=) c.999A>G (p.Glu333=) c.*1463A>G (n.*1463A>G) c.1600A>G (n.1600A>G) c.1332A>G (p.Glu444=) c.1458A>G (p.Glu486=) c.1455A>G (p.Glu485=) c.1494A>G (p.Glu498=) c.448-13307A>G (n.448-13307A>G) c.*93+3122A>G (n.*93+3122A>G) n.2140A>G c.1467A>G (p.Glu489=) n.2063A>G | |
22 | g.29681445A>T | CA032313 | NF2 | c.1446A>T (p.Glu482Asp) c.*1075A>T (n.*1075A>T) c.1581A>T (p.Glu527Asp) c.999A>T (p.Glu333Asp) c.*1463A>T (n.*1463A>T) c.1600A>T (n.1600A>T) c.1332A>T (p.Glu444Asp) c.1458A>T (p.Glu486Asp) c.1455A>T (p.Glu485Asp) c.1494A>T (p.Glu498Asp) c.448-13307A>T (n.448-13307A>T) c.*93+3122A>T (n.*93+3122A>T) n.2140A>T c.1467A>T (p.Glu489Asp) n.2063A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.29681446T>A | CA411149999 | NF2 | c.1447T>A (p.Tyr483Asn) c.*1076T>A (n.*1076T>A) c.1582T>A (p.Tyr528Asn) c.1000T>A (p.Tyr334Asn) c.*1464T>A (n.*1464T>A) c.1601T>A (n.1601T>A) c.1333T>A (p.Tyr445Asn) c.1459T>A (p.Tyr487Asn) c.1456T>A (p.Tyr486Asn) c.1495T>A (p.Tyr499Asn) c.448-13306T>A (n.448-13306T>A) c.*93+3123T>A (n.*93+3123T>A) n.2141T>A c.1468T>A (p.Tyr490Asn) n.2064T>A | |
22 | g.29681446T>C | CA411150000 | NF2 | c.1447T>C (p.Tyr483His) c.*1076T>C (n.*1076T>C) c.1582T>C (p.Tyr528His) c.1000T>C (p.Tyr334His) c.*1464T>C (n.*1464T>C) c.1601T>C (n.1601T>C) c.1333T>C (p.Tyr445His) c.1459T>C (p.Tyr487His) c.1456T>C (p.Tyr486His) c.1495T>C (p.Tyr499His) c.448-13306T>C (n.448-13306T>C) c.*93+3123T>C (n.*93+3123T>C) n.2141T>C c.1468T>C (p.Tyr490His) n.2064T>C | |
22 | g.29681446T>G | CA411150001 | NF2 | c.1447T>G (p.Tyr483Asp) c.*1076T>G (n.*1076T>G) c.1582T>G (p.Tyr528Asp) c.1000T>G (p.Tyr334Asp) c.*1464T>G (n.*1464T>G) c.1601T>G (n.1601T>G) c.1333T>G (p.Tyr445Asp) c.1459T>G (p.Tyr487Asp) c.1456T>G (p.Tyr486Asp) c.1495T>G (p.Tyr499Asp) c.448-13306T>G (n.448-13306T>G) c.*93+3123T>G (n.*93+3123T>G) n.2141T>G c.1468T>G (p.Tyr490Asp) n.2064T>G | |
22 | g.29681447A>C | CA411150002 | NF2 | c.1448A>C (p.Tyr483Ser) c.*1077A>C (n.*1077A>C) c.1583A>C (p.Tyr528Ser) c.1001A>C (p.Tyr334Ser) c.*1465A>C (n.*1465A>C) c.1602A>C (n.1602A>C) c.1334A>C (p.Tyr445Ser) c.1460A>C (p.Tyr487Ser) c.1457A>C (p.Tyr486Ser) c.1496A>C (p.Tyr499Ser) c.448-13305A>C (n.448-13305A>C) c.*93+3124A>C (n.*93+3124A>C) n.2142A>C c.1469A>C (p.Tyr490Ser) n.2065A>C | |
22 | g.29681447A>G | CA411150003 | NF2 | c.1448A>G (p.Tyr483Cys) c.*1077A>G (n.*1077A>G) c.1583A>G (p.Tyr528Cys) c.1001A>G (p.Tyr334Cys) c.*1465A>G (n.*1465A>G) c.1602A>G (n.1602A>G) c.1334A>G (p.Tyr445Cys) c.1460A>G (p.Tyr487Cys) c.1457A>G (p.Tyr486Cys) c.1496A>G (p.Tyr499Cys) c.448-13305A>G (n.448-13305A>G) c.*93+3124A>G (n.*93+3124A>G) n.2142A>G c.1469A>G (p.Tyr490Cys) n.2065A>G | COSMIC COSMIC |
22 | g.29681447A>T | CA411150004 | NF2 | c.1448A>T (p.Tyr483Phe) c.*1077A>T (n.*1077A>T) c.1583A>T (p.Tyr528Phe) c.1001A>T (p.Tyr334Phe) c.*1465A>T (n.*1465A>T) c.1602A>T (n.1602A>T) c.1334A>T (p.Tyr445Phe) c.1460A>T (p.Tyr487Phe) c.1457A>T (p.Tyr486Phe) c.1496A>T (p.Tyr499Phe) c.448-13305A>T (n.448-13305A>T) c.*93+3124A>T (n.*93+3124A>T) n.2142A>T c.1469A>T (p.Tyr490Phe) n.2065A>T | |
22 | g.29681448del | CA514190328 | NF2 | c.1449del (p.Tyr483Ter) c.*1078del (n.*1078del) c.1584del (p.Tyr528Ter) c.1002del (p.Tyr334Ter) c.*1466del (n.*1466del) c.1603del (n.1603del) c.1335del (p.Tyr445Ter) c.1461del (p.Tyr487Ter) c.1458del (p.Tyr486Ter) c.1497del (p.Tyr499Ter) c.448-13304del (n.448-13304del) c.*93+3125del (n.*93+3125del) n.2143del c.1470del (p.Tyr490Ter) n.2066del | COSMIC |
22 | g.29681448C>A | CA411150005 | NF2 | c.1449C>A (p.Tyr483Ter) c.*1078C>A (n.*1078C>A) c.1584C>A (p.Tyr528Ter) c.1002C>A (p.Tyr334Ter) c.*1466C>A (n.*1466C>A) c.1603C>A (n.1603C>A) c.1335C>A (p.Tyr445Ter) c.1461C>A (p.Tyr487Ter) c.1458C>A (p.Tyr486Ter) c.1497C>A (p.Tyr499Ter) c.448-13304C>A (n.448-13304C>A) c.*93+3125C>A (n.*93+3125C>A) n.2143C>A c.1470C>A (p.Tyr490Ter) n.2066C>A | |
22 | g.29681448C>G | CA411150006 | NF2 | c.1449C>G (p.Tyr483Ter) c.*1078C>G (n.*1078C>G) c.1584C>G (p.Tyr528Ter) c.1002C>G (p.Tyr334Ter) c.*1466C>G (n.*1466C>G) c.1603C>G (n.1603C>G) c.1335C>G (p.Tyr445Ter) c.1461C>G (p.Tyr487Ter) c.1458C>G (p.Tyr486Ter) c.1497C>G (p.Tyr499Ter) c.448-13304C>G (n.448-13304C>G) c.*93+3125C>G (n.*93+3125C>G) n.2143C>G c.1470C>G (p.Tyr490Ter) n.2066C>G | |
22 | g.29681448C>T | CA514190327 | NF2 | c.1449C>T (p.Tyr483=) c.*1078C>T (n.*1078C>T) c.1584C>T (p.Tyr528=) c.1002C>T (p.Tyr334=) c.*1466C>T (n.*1466C>T) c.1603C>T (n.1603C>T) c.1335C>T (p.Tyr445=) c.1461C>T (p.Tyr487=) c.1458C>T (p.Tyr486=) c.1497C>T (p.Tyr499=) c.448-13304C>T (n.448-13304C>T) c.*93+3125C>T (n.*93+3125C>T) n.2143C>T c.1470C>T (p.Tyr490=) n.2066C>T | ClinVar |
22 | g.29681449A= | CA2400686802 | NF2 | c.1450A= (p.Met484=) c.*1079A= (n.*1079A=) c.1585A= (p.Met529=) c.1003A= (p.Met335=) c.*1467A= (n.*1467A=) c.1604A= (n.1604A=) c.1336A= (p.Met446=) c.1462A= (p.Met488=) c.1459A= (p.Met487=) c.1498A= (p.Met500=) c.448-13303A= (n.448-13303A=) c.*93+3126A= (n.*93+3126A=) n.2144A= c.1471A= (p.Met491=) n.2067A= | |
22 | g.29681449A>C | CA411150009 | NF2 | c.1450A>C (p.Met484Leu) c.*1079A>C (n.*1079A>C) c.1585A>C (p.Met529Leu) c.1003A>C (p.Met335Leu) c.*1467A>C (n.*1467A>C) c.1604A>C (n.1604A>C) c.1336A>C (p.Met446Leu) c.1462A>C (p.Met488Leu) c.1459A>C (p.Met487Leu) c.1498A>C (p.Met500Leu) c.448-13303A>C (n.448-13303A>C) c.*93+3126A>C (n.*93+3126A>C) n.2144A>C c.1471A>C (p.Met491Leu) n.2067A>C | gnomAD v4 |
22 | g.29681449A>G | CA411150008 | NF2 | c.1450A>G (p.Met484Val) c.*1079A>G (n.*1079A>G) c.1585A>G (p.Met529Val) c.1003A>G (p.Met335Val) c.*1467A>G (n.*1467A>G) c.1604A>G (n.1604A>G) c.1336A>G (p.Met446Val) c.1462A>G (p.Met488Val) c.1459A>G (p.Met487Val) c.1498A>G (p.Met500Val) c.448-13303A>G (n.448-13303A>G) c.*93+3126A>G (n.*93+3126A>G) n.2144A>G c.1471A>G (p.Met491Val) n.2067A>G | ClinVar dbSNP |
22 | g.29681449A>T | CA411150007 | NF2 | c.1450A>T (p.Met484Leu) c.*1079A>T (n.*1079A>T) c.1585A>T (p.Met529Leu) c.1003A>T (p.Met335Leu) c.*1467A>T (n.*1467A>T) c.1604A>T (n.1604A>T) c.1336A>T (p.Met446Leu) c.1462A>T (p.Met488Leu) c.1459A>T (p.Met487Leu) c.1498A>T (p.Met500Leu) c.448-13303A>T (n.448-13303A>T) c.*93+3126A>T (n.*93+3126A>T) n.2144A>T c.1471A>T (p.Met491Leu) n.2067A>T | |
22 | g.29681450T>A | CA411150010 | NF2 | c.1451T>A (p.Met484Lys) c.*1080T>A (n.*1080T>A) c.1586T>A (p.Met529Lys) c.1004T>A (p.Met335Lys) c.*1468T>A (n.*1468T>A) c.1605T>A (n.1605T>A) c.1337T>A (p.Met446Lys) c.1463T>A (p.Met488Lys) c.1460T>A (p.Met487Lys) c.1499T>A (p.Met500Lys) c.448-13302T>A (n.448-13302T>A) c.*93+3127T>A (n.*93+3127T>A) n.2145T>A c.1472T>A (p.Met491Lys) n.2068T>A | gnomAD v4 |
22 | g.29681450T>C | CA032332 | NF2 | c.1451T>C (p.Met484Thr) c.*1080T>C (n.*1080T>C) c.1586T>C (p.Met529Thr) c.1004T>C (p.Met335Thr) c.*1468T>C (n.*1468T>C) c.1605T>C (n.1605T>C) c.1337T>C (p.Met446Thr) c.1463T>C (p.Met488Thr) c.1460T>C (p.Met487Thr) c.1499T>C (p.Met500Thr) c.448-13302T>C (n.448-13302T>C) c.*93+3127T>C (n.*93+3127T>C) n.2145T>C c.1472T>C (p.Met491Thr) n.2068T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.29681450T>G | CA411150011 | NF2 | c.1451T>G (p.Met484Arg) c.*1080T>G (n.*1080T>G) c.1586T>G (p.Met529Arg) c.1004T>G (p.Met335Arg) c.*1468T>G (n.*1468T>G) c.1605T>G (n.1605T>G) c.1337T>G (p.Met446Arg) c.1463T>G (p.Met488Arg) c.1460T>G (p.Met487Arg) c.1499T>G (p.Met500Arg) c.448-13302T>G (n.448-13302T>G) c.*93+3127T>G (n.*93+3127T>G) n.2145T>G c.1472T>G (p.Met491Arg) n.2068T>G |