Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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
22g.29681450T=CA2400686803NF2c.1451T= (p.Met484=)
c.*1080T= (n.*1080T=)
c.1586T= (p.Met529=)
c.1004T= (p.Met335=)
c.*1468T= (n.*1468T=)
c.1605T= (n.1605T=)
c.1337T= (p.Met446=)
c.1463T= (p.Met488=)
c.1460T= (p.Met487=)
c.1499T= (p.Met500=)
c.448-13302T= (n.448-13302T=)
c.*93+3127T= (n.*93+3127T=)
n.2145T=
c.1472T= (p.Met491=)
n.2068T=
22g.29681451G>ACA411150012NF2c.1452G>A (p.Met484Ile)
c.*1081G>A (n.*1081G>A)
c.1587G>A (p.Met529Ile)
c.1005G>A (p.Met335Ile)
c.*1469G>A (n.*1469G>A)
c.1606G>A (n.1606G>A)
c.1338G>A (p.Met446Ile)
c.1464G>A (p.Met488Ile)
c.1461G>A (p.Met487Ile)
c.1500G>A (p.Met500Ile)
c.448-13301G>A (n.448-13301G>A)
c.*93+3128G>A (n.*93+3128G>A)
n.2146G>A
c.1473G>A (p.Met491Ile)
n.2069G>A
22g.29681451G>CCA411150013NF2c.1452G>C (p.Met484Ile)
c.*1081G>C (n.*1081G>C)
c.1587G>C (p.Met529Ile)
c.1005G>C (p.Met335Ile)
c.*1469G>C (n.*1469G>C)
c.1606G>C (n.1606G>C)
c.1338G>C (p.Met446Ile)
c.1464G>C (p.Met488Ile)
c.1461G>C (p.Met487Ile)
c.1500G>C (p.Met500Ile)
c.448-13301G>C (n.448-13301G>C)
c.*93+3128G>C (n.*93+3128G>C)
n.2146G>C
c.1473G>C (p.Met491Ile)
n.2069G>C
22g.29681451G>TCA411150014NF2c.1452G>T (p.Met484Ile)
c.*1081G>T (n.*1081G>T)
c.1587G>T (p.Met529Ile)
c.1005G>T (p.Met335Ile)
c.*1469G>T (n.*1469G>T)
c.1606G>T (n.1606G>T)
c.1338G>T (p.Met446Ile)
c.1464G>T (p.Met488Ile)
c.1461G>T (p.Met487Ile)
c.1500G>T (p.Met500Ile)
c.448-13301G>T (n.448-13301G>T)
c.*93+3128G>T (n.*93+3128G>T)
n.2146G>T
c.1473G>T (p.Met491Ile)
n.2069G>T
22g.29681452G>ACA411150015NF2c.1453G>A (p.Glu485Lys)
c.*1082G>A (n.*1082G>A)
c.1588G>A (p.Glu530Lys)
c.1006G>A (p.Glu336Lys)
c.*1470G>A (n.*1470G>A)
c.1607G>A (n.1607G>A)
c.1339G>A (p.Glu447Lys)
c.1465G>A (p.Glu489Lys)
c.1462G>A (p.Glu488Lys)
c.1501G>A (p.Glu501Lys)
c.448-13300G>A (n.448-13300G>A)
c.*93+3129G>A (n.*93+3129G>A)
n.2147G>A
c.1474G>A (p.Glu492Lys)
n.2070G>A
 dbSNP
22g.29681452G>CCA411150016NF2c.1453G>C (p.Glu485Gln)
c.*1082G>C (n.*1082G>C)
c.1588G>C (p.Glu530Gln)
c.1006G>C (p.Glu336Gln)
c.*1470G>C (n.*1470G>C)
c.1607G>C (n.1607G>C)
c.1339G>C (p.Glu447Gln)
c.1465G>C (p.Glu489Gln)
c.1462G>C (p.Glu488Gln)
c.1501G>C (p.Glu501Gln)
c.448-13300G>C (n.448-13300G>C)
c.*93+3129G>C (n.*93+3129G>C)
n.2147G>C
c.1474G>C (p.Glu492Gln)
n.2070G>C
22g.29681452G>TCA411150017NF2c.1453G>T (p.Glu485Ter)
c.*1082G>T (n.*1082G>T)
c.1588G>T (p.Glu530Ter)
c.1006G>T (p.Glu336Ter)
c.*1470G>T (n.*1470G>T)
c.1607G>T (n.1607G>T)
c.1339G>T (p.Glu447Ter)
c.1465G>T (p.Glu489Ter)
c.1462G>T (p.Glu488Ter)
c.1501G>T (p.Glu501Ter)
c.448-13300G>T (n.448-13300G>T)
c.*93+3129G>T (n.*93+3129G>T)
n.2147G>T
c.1474G>T (p.Glu492Ter)
n.2070G>T
22g.29681453A>CCA411150018NF2c.1454A>C (p.Glu485Ala)
c.*1083A>C (n.*1083A>C)
c.1589A>C (p.Glu530Ala)
c.1007A>C (p.Glu336Ala)
c.*1471A>C (n.*1471A>C)
c.1608A>C (n.1608A>C)
c.1340A>C (p.Glu447Ala)
c.1466A>C (p.Glu489Ala)
c.1463A>C (p.Glu488Ala)
c.1502A>C (p.Glu501Ala)
c.448-13299A>C (n.448-13299A>C)
c.*93+3130A>C (n.*93+3130A>C)
n.2148A>C
c.1475A>C (p.Glu492Ala)
n.2071A>C
22g.29681453A>GCA411150019NF2c.1454A>G (p.Glu485Gly)
c.*1083A>G (n.*1083A>G)
c.1589A>G (p.Glu530Gly)
c.1007A>G (p.Glu336Gly)
c.*1471A>G (n.*1471A>G)
c.1608A>G (n.1608A>G)
c.1340A>G (p.Glu447Gly)
c.1466A>G (p.Glu489Gly)
c.1463A>G (p.Glu488Gly)
c.1502A>G (p.Glu501Gly)
c.448-13299A>G (n.448-13299A>G)
c.*93+3130A>G (n.*93+3130A>G)
n.2148A>G
c.1475A>G (p.Glu492Gly)
n.2071A>G
22g.29681453A>TCA411150020NF2c.1454A>T (p.Glu485Val)
c.*1083A>T (n.*1083A>T)
c.1589A>T (p.Glu530Val)
c.1007A>T (p.Glu336Val)
c.*1471A>T (n.*1471A>T)
c.1608A>T (n.1608A>T)
c.1340A>T (p.Glu447Val)
c.1466A>T (p.Glu489Val)
c.1463A>T (p.Glu488Val)
c.1502A>T (p.Glu501Val)
c.448-13299A>T (n.448-13299A>T)
c.*93+3130A>T (n.*93+3130A>T)
n.2148A>T
c.1475A>T (p.Glu492Val)
n.2071A>T
22g.29681456delCA514190337NF2c.1457del (p.Lys486ArgfsTer19)
c.*1086del (n.*1086del)
c.1592del (p.Lys531ArgfsTer19)
c.1010del (p.Lys337ArgfsTer19)
c.*1474del (n.*1474del)
c.1611del (n.1611del)
c.1343del (p.Lys448ArgfsTer19)
c.1469del (p.Lys490ArgfsTer19)
c.1466del (p.Lys489ArgfsTer19)
c.1505del (p.Lys502ArgfsTer19)
c.448-13296del (n.448-13296del)
c.*93+3133del (n.*93+3133del)
n.2151del
c.1478del (p.Lys493ArgfsTer19)
n.2074del
 COSMIC
22g.29681454A>CCA411150021NF2c.1455A>C (p.Glu485Asp)
c.*1084A>C (n.*1084A>C)
c.1590A>C (p.Glu530Asp)
c.1008A>C (p.Glu336Asp)
c.*1472A>C (n.*1472A>C)
c.1609A>C (n.1609A>C)
c.1341A>C (p.Glu447Asp)
c.1467A>C (p.Glu489Asp)
c.1464A>C (p.Glu488Asp)
c.1503A>C (p.Glu501Asp)
c.448-13298A>C (n.448-13298A>C)
c.*93+3131A>C (n.*93+3131A>C)
n.2149A>C
c.1476A>C (p.Glu492Asp)
n.2072A>C
22g.29681454A>GCA514190340NF2c.1455A>G (p.Glu485=)
c.*1084A>G (n.*1084A>G)
c.1590A>G (p.Glu530=)
c.1008A>G (p.Glu336=)
c.*1472A>G (n.*1472A>G)
c.1609A>G (n.1609A>G)
c.1341A>G (p.Glu447=)
c.1467A>G (p.Glu489=)
c.1464A>G (p.Glu488=)
c.1503A>G (p.Glu501=)
c.448-13298A>G (n.448-13298A>G)
c.*93+3131A>G (n.*93+3131A>G)
n.2149A>G
c.1476A>G (p.Glu492=)
n.2072A>G
22g.29681454A>TCA411150022NF2c.1455A>T (p.Glu485Asp)
c.*1084A>T (n.*1084A>T)
c.1590A>T (p.Glu530Asp)
c.1008A>T (p.Glu336Asp)
c.*1472A>T (n.*1472A>T)
c.1609A>T (n.1609A>T)
c.1341A>T (p.Glu447Asp)
c.1467A>T (p.Glu489Asp)
c.1464A>T (p.Glu488Asp)
c.1503A>T (p.Glu501Asp)
c.448-13298A>T (n.448-13298A>T)
c.*93+3131A>T (n.*93+3131A>T)
n.2149A>T
c.1476A>T (p.Glu492Asp)
n.2072A>T
22g.29681455A>CCA411150024NF2c.1456A>C (p.Lys486Gln)
c.*1085A>C (n.*1085A>C)
c.1591A>C (p.Lys531Gln)
c.1009A>C (p.Lys337Gln)
c.*1473A>C (n.*1473A>C)
c.1610A>C (n.1610A>C)
c.1342A>C (p.Lys448Gln)
c.1468A>C (p.Lys490Gln)
c.1465A>C (p.Lys489Gln)
c.1504A>C (p.Lys502Gln)
c.448-13297A>C (n.448-13297A>C)
c.*93+3132A>C (n.*93+3132A>C)
n.2150A>C
c.1477A>C (p.Lys493Gln)
n.2073A>C
 gnomAD v4
22g.29681455A>GCA411150025NF2c.1456A>G (p.Lys486Glu)
c.*1085A>G (n.*1085A>G)
c.1591A>G (p.Lys531Glu)
c.1009A>G (p.Lys337Glu)
c.*1473A>G (n.*1473A>G)
c.1610A>G (n.1610A>G)
c.1342A>G (p.Lys448Glu)
c.1468A>G (p.Lys490Glu)
c.1465A>G (p.Lys489Glu)
c.1504A>G (p.Lys502Glu)
c.448-13297A>G (n.448-13297A>G)
c.*93+3132A>G (n.*93+3132A>G)
n.2150A>G
c.1477A>G (p.Lys493Glu)
n.2073A>G
 gnomAD v4
22g.29681455A>TCA411150023NF2c.1456A>T (p.Lys486Ter)
c.*1085A>T (n.*1085A>T)
c.1591A>T (p.Lys531Ter)
c.1009A>T (p.Lys337Ter)
c.*1473A>T (n.*1473A>T)
c.1610A>T (n.1610A>T)
c.1342A>T (p.Lys448Ter)
c.1468A>T (p.Lys490Ter)
c.1465A>T (p.Lys489Ter)
c.1504A>T (p.Lys502Ter)
c.448-13297A>T (n.448-13297A>T)
c.*93+3132A>T (n.*93+3132A>T)
n.2150A>T
c.1477A>T (p.Lys493Ter)
n.2073A>T
22g.29681456A>CCA411150026NF2c.1457A>C (p.Lys486Thr)
c.*1086A>C (n.*1086A>C)
c.1592A>C (p.Lys531Thr)
c.1010A>C (p.Lys337Thr)
c.*1474A>C (n.*1474A>C)
c.1611A>C (n.1611A>C)
c.1343A>C (p.Lys448Thr)
c.1469A>C (p.Lys490Thr)
c.1466A>C (p.Lys489Thr)
c.1505A>C (p.Lys502Thr)
c.448-13296A>C (n.448-13296A>C)
c.*93+3133A>C (n.*93+3133A>C)
n.2151A>C
c.1478A>C (p.Lys493Thr)
n.2074A>C
22g.29681456A>GCA411150027NF2c.1457A>G (p.Lys486Arg)
c.*1086A>G (n.*1086A>G)
c.1592A>G (p.Lys531Arg)
c.1010A>G (p.Lys337Arg)
c.*1474A>G (n.*1474A>G)
c.1611A>G (n.1611A>G)
c.1343A>G (p.Lys448Arg)
c.1469A>G (p.Lys490Arg)
c.1466A>G (p.Lys489Arg)
c.1505A>G (p.Lys502Arg)
c.448-13296A>G (n.448-13296A>G)
c.*93+3133A>G (n.*93+3133A>G)
n.2151A>G
c.1478A>G (p.Lys493Arg)
n.2074A>G
22g.29681456A>TCA411150028NF2c.1457A>T (p.Lys486Met)
c.*1086A>T (n.*1086A>T)
c.1592A>T (p.Lys531Met)
c.1010A>T (p.Lys337Met)
c.*1474A>T (n.*1474A>T)
c.1611A>T (n.1611A>T)
c.1343A>T (p.Lys448Met)
c.1469A>T (p.Lys490Met)
c.1466A>T (p.Lys489Met)
c.1505A>T (p.Lys502Met)
c.448-13296A>T (n.448-13296A>T)
c.*93+3133A>T (n.*93+3133A>T)
n.2151A>T
c.1478A>T (p.Lys493Met)
n.2074A>T
22g.29681457G>ACA514190342NF2c.1458G>A (p.Lys486=)
c.*1087G>A (n.*1087G>A)
c.1593G>A (p.Lys531=)
c.1011G>A (p.Lys337=)
c.*1475G>A (n.*1475G>A)
c.1612G>A (n.1612G>A)
c.1344G>A (p.Lys448=)
c.1470G>A (p.Lys490=)
c.1467G>A (p.Lys489=)
c.1506G>A (p.Lys502=)
c.448-13295G>A (n.448-13295G>A)
c.*93+3134G>A (n.*93+3134G>A)
n.2152G>A
c.1479G>A (p.Lys493=)
n.2075G>A
22g.29681457G>CCA411150029NF2c.1458G>C (p.Lys486Asn)
c.*1087G>C (n.*1087G>C)
c.1593G>C (p.Lys531Asn)
c.1011G>C (p.Lys337Asn)
c.*1475G>C (n.*1475G>C)
c.1612G>C (n.1612G>C)
c.1344G>C (p.Lys448Asn)
c.1470G>C (p.Lys490Asn)
c.1467G>C (p.Lys489Asn)
c.1506G>C (p.Lys502Asn)
c.448-13295G>C (n.448-13295G>C)
c.*93+3134G>C (n.*93+3134G>C)
n.2152G>C
c.1479G>C (p.Lys493Asn)
n.2075G>C
 ClinVar
22g.29681457G>TCA411150030NF2c.1458G>T (p.Lys486Asn)
c.*1087G>T (n.*1087G>T)
c.1593G>T (p.Lys531Asn)
c.1011G>T (p.Lys337Asn)
c.*1475G>T (n.*1475G>T)
c.1612G>T (n.1612G>T)
c.1344G>T (p.Lys448Asn)
c.1470G>T (p.Lys490Asn)
c.1467G>T (p.Lys489Asn)
c.1506G>T (p.Lys502Asn)
c.448-13295G>T (n.448-13295G>T)
c.*93+3134G>T (n.*93+3134G>T)
n.2152G>T
c.1479G>T (p.Lys493Asn)
n.2075G>T
22g.29681458A>CCA411150031NF2c.1459A>C (p.Ser487Arg)
c.*1088A>C (n.*1088A>C)
c.1594A>C (p.Ser532Arg)
c.1012A>C (p.Ser338Arg)
c.*1476A>C (n.*1476A>C)
c.1613A>C (n.1613A>C)
c.1345A>C (p.Ser449Arg)
c.1471A>C (p.Ser491Arg)
c.1468A>C (p.Ser490Arg)
c.1507A>C (p.Ser503Arg)
c.448-13294A>C (n.448-13294A>C)
c.*93+3135A>C (n.*93+3135A>C)
n.2153A>C
c.1480A>C (p.Ser494Arg)
n.2076A>C
22g.29681458A>GCA411150032NF2c.1459A>G (p.Ser487Gly)
c.*1088A>G (n.*1088A>G)
c.1594A>G (p.Ser532Gly)
c.1012A>G (p.Ser338Gly)
c.*1476A>G (n.*1476A>G)
c.1613A>G (n.1613A>G)
c.1345A>G (p.Ser449Gly)
c.1471A>G (p.Ser491Gly)
c.1468A>G (p.Ser490Gly)
c.1507A>G (p.Ser503Gly)
c.448-13294A>G (n.448-13294A>G)
c.*93+3135A>G (n.*93+3135A>G)
n.2153A>G
c.1480A>G (p.Ser494Gly)
n.2076A>G
 gnomAD v4
22g.29681458A>TCA411150033NF2c.1459A>T (p.Ser487Cys)
c.*1088A>T (n.*1088A>T)
c.1594A>T (p.Ser532Cys)
c.1012A>T (p.Ser338Cys)
c.*1476A>T (n.*1476A>T)
c.1613A>T (n.1613A>T)
c.1345A>T (p.Ser449Cys)
c.1471A>T (p.Ser491Cys)
c.1468A>T (p.Ser490Cys)
c.1507A>T (p.Ser503Cys)
c.448-13294A>T (n.448-13294A>T)
c.*93+3135A>T (n.*93+3135A>T)
n.2153A>T
c.1480A>T (p.Ser494Cys)
n.2076A>T
22g.29681459G>ACA411150034NF2c.1460G>A (p.Ser487Asn)
c.*1089G>A (n.*1089G>A)
c.1595G>A (p.Ser532Asn)
c.1013G>A (p.Ser338Asn)
c.*1477G>A (n.*1477G>A)
c.1614G>A (n.1614G>A)
c.1346G>A (p.Ser449Asn)
c.1472G>A (p.Ser491Asn)
c.1469G>A (p.Ser490Asn)
c.1508G>A (p.Ser503Asn)
c.448-13293G>A (n.448-13293G>A)
c.*93+3136G>A (n.*93+3136G>A)
n.2154G>A
c.1481G>A (p.Ser494Asn)
n.2077G>A
 ClinVar dbSNP
22g.29681459G>CCA411150035NF2c.1460G>C (p.Ser487Thr)
c.*1089G>C (n.*1089G>C)
c.1595G>C (p.Ser532Thr)
c.1013G>C (p.Ser338Thr)
c.*1477G>C (n.*1477G>C)
c.1614G>C (n.1614G>C)
c.1346G>C (p.Ser449Thr)
c.1472G>C (p.Ser491Thr)
c.1469G>C (p.Ser490Thr)
c.1508G>C (p.Ser503Thr)
c.448-13293G>C (n.448-13293G>C)
c.*93+3136G>C (n.*93+3136G>C)
n.2154G>C
c.1481G>C (p.Ser494Thr)
n.2077G>C
22g.29681459G>TCA411150036NF2c.1460G>T (p.Ser487Ile)
c.*1089G>T (n.*1089G>T)
c.1595G>T (p.Ser532Ile)
c.1013G>T (p.Ser338Ile)
c.*1477G>T (n.*1477G>T)
c.1614G>T (n.1614G>T)
c.1346G>T (p.Ser449Ile)
c.1472G>T (p.Ser491Ile)
c.1469G>T (p.Ser490Ile)
c.1508G>T (p.Ser503Ile)
c.448-13293G>T (n.448-13293G>T)
c.*93+3136G>T (n.*93+3136G>T)
n.2154G>T
c.1481G>T (p.Ser494Ile)
n.2077G>T
22g.29681460C>ACA411150037NF2c.1461C>A (p.Ser487Arg)
c.*1090C>A (n.*1090C>A)
c.1596C>A (p.Ser532Arg)
c.1014C>A (p.Ser338Arg)
c.*1478C>A (n.*1478C>A)
c.1615C>A (n.1615C>A)
c.1347C>A (p.Ser449Arg)
c.1473C>A (p.Ser491Arg)
c.1470C>A (p.Ser490Arg)
c.1509C>A (p.Ser503Arg)
c.448-13292C>A (n.448-13292C>A)
c.*93+3137C>A (n.*93+3137C>A)
n.2155C>A
c.1482C>A (p.Ser494Arg)
n.2078C>A
 dbSNP
22g.29681460C>GCA411150038NF2c.1461C>G (p.Ser487Arg)
c.*1090C>G (n.*1090C>G)
c.1596C>G (p.Ser532Arg)
c.1014C>G (p.Ser338Arg)
c.*1478C>G (n.*1478C>G)
c.1615C>G (n.1615C>G)
c.1347C>G (p.Ser449Arg)
c.1473C>G (p.Ser491Arg)
c.1470C>G (p.Ser490Arg)
c.1509C>G (p.Ser503Arg)
c.448-13292C>G (n.448-13292C>G)
c.*93+3137C>G (n.*93+3137C>G)
n.2155C>G
c.1482C>G (p.Ser494Arg)
n.2078C>G
22g.29681460C>TCA514190348NF2c.1461C>T (p.Ser487=)
c.*1090C>T (n.*1090C>T)
c.1596C>T (p.Ser532=)
c.1014C>T (p.Ser338=)
c.*1478C>T (n.*1478C>T)
c.1615C>T (n.1615C>T)
c.1347C>T (p.Ser449=)
c.1473C>T (p.Ser491=)
c.1470C>T (p.Ser490=)
c.1509C>T (p.Ser503=)
c.448-13292C>T (n.448-13292C>T)
c.*93+3137C>T (n.*93+3137C>T)
n.2155C>T
c.1482C>T (p.Ser494=)
n.2078C>T
 dbSNP
22g.29681461A>CCA411150039NF2c.1462A>C (p.Lys488Gln)
c.*1091A>C (n.*1091A>C)
c.1597A>C (p.Lys533Gln)
c.1015A>C (p.Lys339Gln)
c.*1479A>C (n.*1479A>C)
c.1616A>C (n.1616A>C)
c.1348A>C (p.Lys450Gln)
c.1474A>C (p.Lys492Gln)
c.1471A>C (p.Lys491Gln)
c.1510A>C (p.Lys504Gln)
c.448-13291A>C (n.448-13291A>C)
c.*93+3138A>C (n.*93+3138A>C)
n.2156A>C
c.1483A>C (p.Lys495Gln)
n.2079A>C
22g.29681461A>GCA411150041NF2c.1462A>G (p.Lys488Glu)
c.*1091A>G (n.*1091A>G)
c.1597A>G (p.Lys533Glu)
c.1015A>G (p.Lys339Glu)
c.*1479A>G (n.*1479A>G)
c.1616A>G (n.1616A>G)
c.1348A>G (p.Lys450Glu)
c.1474A>G (p.Lys492Glu)
c.1471A>G (p.Lys491Glu)
c.1510A>G (p.Lys504Glu)
c.448-13291A>G (n.448-13291A>G)
c.*93+3138A>G (n.*93+3138A>G)
n.2156A>G
c.1483A>G (p.Lys495Glu)
n.2079A>G
22g.29681461A>TCA411150040NF2c.1462A>T (p.Lys488Ter)
c.*1091A>T (n.*1091A>T)
c.1597A>T (p.Lys533Ter)
c.1015A>T (p.Lys339Ter)
c.*1479A>T (n.*1479A>T)
c.1616A>T (n.1616A>T)
c.1348A>T (p.Lys450Ter)
c.1474A>T (p.Lys492Ter)
c.1471A>T (p.Lys491Ter)
c.1510A>T (p.Lys504Ter)
c.448-13291A>T (n.448-13291A>T)
c.*93+3138A>T (n.*93+3138A>T)
n.2156A>T
c.1483A>T (p.Lys495Ter)
n.2079A>T
22g.29681462A=CA2400686804NF2c.1463A= (p.Lys488=)
c.*1092A= (n.*1092A=)
c.1598A= (p.Lys533=)
c.1016A= (p.Lys339=)
c.*1480A= (n.*1480A=)
c.1617A= (n.1617A=)
c.1349A= (p.Lys450=)
c.1475A= (p.Lys492=)
c.1472A= (p.Lys491=)
c.1511A= (p.Lys504=)
c.448-13290A= (n.448-13290A=)
c.*93+3139A= (n.*93+3139A=)
n.2157A=
c.1484A= (p.Lys495=)
n.2080A=
22g.29681462A>CCA411150042NF2c.1463A>C (p.Lys488Thr)
c.*1092A>C (n.*1092A>C)
c.1598A>C (p.Lys533Thr)
c.1016A>C (p.Lys339Thr)
c.*1480A>C (n.*1480A>C)
c.1617A>C (n.1617A>C)
c.1349A>C (p.Lys450Thr)
c.1475A>C (p.Lys492Thr)
c.1472A>C (p.Lys491Thr)
c.1511A>C (p.Lys504Thr)
c.448-13290A>C (n.448-13290A>C)
c.*93+3139A>C (n.*93+3139A>C)
n.2157A>C
c.1484A>C (p.Lys495Thr)
n.2080A>C
22g.29681462A>GCA032355NF2c.1463A>G (p.Lys488Arg)
c.*1092A>G (n.*1092A>G)
c.1598A>G (p.Lys533Arg)
c.1016A>G (p.Lys339Arg)
c.*1480A>G (n.*1480A>G)
c.1617A>G (n.1617A>G)
c.1349A>G (p.Lys450Arg)
c.1475A>G (p.Lys492Arg)
c.1472A>G (p.Lys491Arg)
c.1511A>G (p.Lys504Arg)
c.448-13290A>G (n.448-13290A>G)
c.*93+3139A>G (n.*93+3139A>G)
n.2157A>G
c.1484A>G (p.Lys495Arg)
n.2080A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.29681462A>TCA411150043NF2c.1463A>T (p.Lys488Met)
c.*1092A>T (n.*1092A>T)
c.1598A>T (p.Lys533Met)
c.1016A>T (p.Lys339Met)
c.*1480A>T (n.*1480A>T)
c.1617A>T (n.1617A>T)
c.1349A>T (p.Lys450Met)
c.1475A>T (p.Lys492Met)
c.1472A>T (p.Lys491Met)
c.1511A>T (p.Lys504Met)
c.448-13290A>T (n.448-13290A>T)
c.*93+3139A>T (n.*93+3139A>T)
n.2157A>T
c.1484A>T (p.Lys495Met)
n.2080A>T
22g.29681463delCA2695230523NF2c.1464del (p.Lys488AsnfsTer17)
c.*1093del (n.*1093del)
c.1599del (p.Lys533AsnfsTer17)
c.1017del (p.Lys339AsnfsTer17)
c.*1481del (n.*1481del)
c.1618del (n.1618del)
c.1350del (p.Lys450AsnfsTer17)
c.1476del (p.Lys492AsnfsTer17)
c.1473del (p.Lys491AsnfsTer17)
c.1512del (p.Lys504AsnfsTer17)
c.448-13289del (n.448-13289del)
c.*93+3140del (n.*93+3140del)
n.2158del
c.1485del (p.Lys495AsnfsTer17)
n.2081del
22g.29681463G>ACA514190353NF2c.1464G>A (p.Lys488=)
c.*1093G>A (n.*1093G>A)
c.1599G>A (p.Lys533=)
c.1017G>A (p.Lys339=)
c.*1481G>A (n.*1481G>A)
c.1618G>A (n.1618G>A)
c.1350G>A (p.Lys450=)
c.1476G>A (p.Lys492=)
c.1473G>A (p.Lys491=)
c.1512G>A (p.Lys504=)
c.448-13289G>A (n.448-13289G>A)
c.*93+3140G>A (n.*93+3140G>A)
n.2158G>A
c.1485G>A (p.Lys495=)
n.2081G>A
 ClinVar dbSNP gnomAD v4

Number of alleles fetched