Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.29681413_29681446delCA645601216NF2c.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
22g.29681439_29681601delCA645601219NF2c.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
22g.29681439delCA913187477NF2c.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
22g.29681439A=CA2400686798NF2c.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=
22g.29681439A>CCA411149985NF2c.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
22g.29681439A>GCA16616591NF2c.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
22g.29681439A>TCA411149986NF2c.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
22g.29681439_29681440delinsGACA2695230520NF2c.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
22g.29681440G>ACA411149987NF2c.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
22g.29681440G>CCA411149988NF2c.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
22g.29681440G>TCA411149989NF2c.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
22g.29681441T>ACA411149992NF2c.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
22g.29681441T>CCA411149990NF2c.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
22g.29681441T>GCA411149991NF2c.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
22g.29681441_29681450delCA2695230521NF2c.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
22g.29681442G>ACA514190321NF2c.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
22g.29681442G>CCA514190323NF2c.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
22g.29681442G>TCA514190324NF2c.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
22g.29681442_29681445delCA645601221NF2c.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
22g.29681443G>ACA411149993NF2c.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
22g.29681443G>CCA411149994NF2c.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
22g.29681443G=CA2400686799NF2c.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=
22g.29681443G>TCA021349NF2c.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
22g.29681443_29681446delCA645601222NF2c.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
22g.29681444A=CA2400686800NF2c.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=
22g.29681444A>CCA411149995NF2c.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
22g.29681444A>GCA411149996NF2c.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
22g.29681444A>TCA411149997NF2c.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
22g.29681445delCA2695230522NF2c.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
22g.29681445A=CA2400686801NF2c.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=
22g.29681445A>CCA411149998NF2c.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
22g.29681445A>GCA514190325NF2c.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
22g.29681445A>TCA032313NF2c.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
22g.29681446T>ACA411149999NF2c.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
22g.29681446T>CCA411150000NF2c.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
22g.29681446T>GCA411150001NF2c.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
22g.29681447A>CCA411150002NF2c.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
22g.29681447A>GCA411150003NF2c.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
22g.29681447A>TCA411150004NF2c.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
22g.29681448delCA514190328NF2c.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
22g.29681448C>ACA411150005NF2c.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
22g.29681448C>GCA411150006NF2c.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
22g.29681448C>TCA514190327NF2c.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
22g.29681449A=CA2400686802NF2c.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=
22g.29681449A>CCA411150009NF2c.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
22g.29681449A>GCA411150008NF2c.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
22g.29681449A>TCA411150007NF2c.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
22g.29681450T>ACA411150010NF2c.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
22g.29681450T>CCA032332NF2c.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
22g.29681450T>GCA411150011NF2c.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

Number of alleles fetched