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.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
22g.29681463G>CCA411150044NF2c.1464G>C (p.Lys488Asn)
c.*1093G>C (n.*1093G>C)
c.1599G>C (p.Lys533Asn)
c.1017G>C (p.Lys339Asn)
c.*1481G>C (n.*1481G>C)
c.1618G>C (n.1618G>C)
c.1350G>C (p.Lys450Asn)
c.1476G>C (p.Lys492Asn)
c.1473G>C (p.Lys491Asn)
c.1512G>C (p.Lys504Asn)
c.448-13289G>C (n.448-13289G>C)
c.*93+3140G>C (n.*93+3140G>C)
n.2158G>C
c.1485G>C (p.Lys495Asn)
n.2081G>C
22g.29681463G>TCA411150045NF2c.1464G>T (p.Lys488Asn)
c.*1093G>T (n.*1093G>T)
c.1599G>T (p.Lys533Asn)
c.1017G>T (p.Lys339Asn)
c.*1481G>T (n.*1481G>T)
c.1618G>T (n.1618G>T)
c.1350G>T (p.Lys450Asn)
c.1476G>T (p.Lys492Asn)
c.1473G>T (p.Lys491Asn)
c.1512G>T (p.Lys504Asn)
c.448-13289G>T (n.448-13289G>T)
c.*93+3140G>T (n.*93+3140G>T)
n.2158G>T
c.1485G>T (p.Lys495Asn)
n.2081G>T
22g.29681463_29681466delCA2695230524NF2c.1464_1467del (p.Lys488AsnfsTer16)
c.*1093_*1096del (n.*1093_*1096del)
c.1599_1602del (p.Lys533AsnfsTer16)
c.1017_1020del (p.Lys339AsnfsTer16)
c.*1481_*1484del (n.*1481_*1484del)
c.1618_1621del (n.1618_1621del)
c.1350_1353del (p.Lys450AsnfsTer16)
c.1476_1479del (p.Lys492AsnfsTer16)
c.1473_1476del (p.Lys491AsnfsTer16)
c.1512_1515del (p.Lys504AsnfsTer16)
c.448-13289_448-13286del (n.448-13289_448-13286del)
c.*93+3140_*93+3143del (n.*93+3140_*93+3143del)
n.2158_2161del
c.1485_1488del (p.Lys495AsnfsTer16)
n.2081_2084del
22g.29681464delCA514190355NF2c.1465del (p.His489IlefsTer16)
c.*1094del (n.*1094del)
c.1600del (p.His534IlefsTer16)
c.1018del (p.His340IlefsTer16)
c.*1482del (n.*1482del)
c.1619del (n.1619del)
c.1351del (p.His451IlefsTer16)
c.1477del (p.His493IlefsTer16)
c.1474del (p.His492IlefsTer16)
c.1513del (p.His505IlefsTer16)
c.448-13288del (n.448-13288del)
c.*93+3141del (n.*93+3141del)
n.2159del
c.1486del (p.His496IlefsTer16)
n.2082del
COSMIC
22g.29681464C>ACA411150046NF2c.1465C>A (p.His489Asn)
c.*1094C>A (n.*1094C>A)
c.1600C>A (p.His534Asn)
c.1018C>A (p.His340Asn)
c.*1482C>A (n.*1482C>A)
c.1619C>A (n.1619C>A)
c.1351C>A (p.His451Asn)
c.1477C>A (p.His493Asn)
c.1474C>A (p.His492Asn)
c.1513C>A (p.His505Asn)
c.448-13288C>A (n.448-13288C>A)
c.*93+3141C>A (n.*93+3141C>A)
n.2159C>A
c.1486C>A (p.His496Asn)
n.2082C>A
22g.29681464C=CA2400686805NF2c.1465C= (p.His489=)
c.*1094C= (n.*1094C=)
c.1600C= (p.His534=)
c.1018C= (p.His340=)
c.*1482C= (n.*1482C=)
c.1619C= (n.1619C=)
c.1351C= (p.His451=)
c.1477C= (p.His493=)
c.1474C= (p.His492=)
c.1513C= (p.His505=)
c.448-13288C= (n.448-13288C=)
c.*93+3141C= (n.*93+3141C=)
n.2159C=
c.1486C= (p.His496=)
n.2082C=
22g.29681464C>GCA411150047NF2c.1465C>G (p.His489Asp)
c.*1094C>G (n.*1094C>G)
c.1600C>G (p.His534Asp)
c.1018C>G (p.His340Asp)
c.*1482C>G (n.*1482C>G)
c.1619C>G (n.1619C>G)
c.1351C>G (p.His451Asp)
c.1477C>G (p.His493Asp)
c.1474C>G (p.His492Asp)
c.1513C>G (p.His505Asp)
c.448-13288C>G (n.448-13288C>G)
c.*93+3141C>G (n.*93+3141C>G)
n.2159C>G
c.1486C>G (p.His496Asp)
n.2082C>G
22g.29681464C>TCA032373NF2c.1465C>T (p.His489Tyr)
c.*1094C>T (n.*1094C>T)
c.1600C>T (p.His534Tyr)
c.1018C>T (p.His340Tyr)
c.*1482C>T (n.*1482C>T)
c.1619C>T (n.1619C>T)
c.1351C>T (p.His451Tyr)
c.1477C>T (p.His493Tyr)
c.1474C>T (p.His492Tyr)
c.1513C>T (p.His505Tyr)
c.448-13288C>T (n.448-13288C>T)
c.*93+3141C>T (n.*93+3141C>T)
n.2159C>T
c.1486C>T (p.His496Tyr)
n.2082C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.29681465A>CCA411150048NF2c.1466A>C (p.His489Pro)
c.*1095A>C (n.*1095A>C)
c.1601A>C (p.His534Pro)
c.1019A>C (p.His340Pro)
c.*1483A>C (n.*1483A>C)
c.1620A>C (n.1620A>C)
c.1352A>C (p.His451Pro)
c.1478A>C (p.His493Pro)
c.1475A>C (p.His492Pro)
c.1514A>C (p.His505Pro)
c.448-13287A>C (n.448-13287A>C)
c.*93+3142A>C (n.*93+3142A>C)
n.2160A>C
c.1487A>C (p.His496Pro)
n.2083A>C
22g.29681465A>GCA411150049NF2c.1466A>G (p.His489Arg)
c.*1095A>G (n.*1095A>G)
c.1601A>G (p.His534Arg)
c.1019A>G (p.His340Arg)
c.*1483A>G (n.*1483A>G)
c.1620A>G (n.1620A>G)
c.1352A>G (p.His451Arg)
c.1478A>G (p.His493Arg)
c.1475A>G (p.His492Arg)
c.1514A>G (p.His505Arg)
c.448-13287A>G (n.448-13287A>G)
c.*93+3142A>G (n.*93+3142A>G)
n.2160A>G
c.1487A>G (p.His496Arg)
n.2083A>G
ClinVar dbSNP
22g.29681465A>TCA411150050NF2c.1466A>T (p.His489Leu)
c.*1095A>T (n.*1095A>T)
c.1601A>T (p.His534Leu)
c.1019A>T (p.His340Leu)
c.*1483A>T (n.*1483A>T)
c.1620A>T (n.1620A>T)
c.1352A>T (p.His451Leu)
c.1478A>T (p.His493Leu)
c.1475A>T (p.His492Leu)
c.1514A>T (p.His505Leu)
c.448-13287A>T (n.448-13287A>T)
c.*93+3142A>T (n.*93+3142A>T)
n.2160A>T
c.1487A>T (p.His496Leu)
n.2083A>T
gnomAD v4
22g.29681466T>ACA411150051NF2c.1467T>A (p.His489Gln)
c.*1096T>A (n.*1096T>A)
c.1602T>A (p.His534Gln)
c.1020T>A (p.His340Gln)
c.*1484T>A (n.*1484T>A)
c.1621T>A (n.1621T>A)
c.1353T>A (p.His451Gln)
c.1479T>A (p.His493Gln)
c.1476T>A (p.His492Gln)
c.1515T>A (p.His505Gln)
c.448-13286T>A (n.448-13286T>A)
c.*93+3143T>A (n.*93+3143T>A)
n.2161T>A
c.1488T>A (p.His496Gln)
n.2084T>A
22g.29681466T>CCA514190356NF2c.1467T>C (p.His489=)
c.*1096T>C (n.*1096T>C)
c.1602T>C (p.His534=)
c.1020T>C (p.His340=)
c.*1484T>C (n.*1484T>C)
c.1621T>C (n.1621T>C)
c.1353T>C (p.His451=)
c.1479T>C (p.His493=)
c.1476T>C (p.His492=)
c.1515T>C (p.His505=)
c.448-13286T>C (n.448-13286T>C)
c.*93+3143T>C (n.*93+3143T>C)
n.2161T>C
c.1488T>C (p.His496=)
n.2084T>C
22g.29681466T>GCA411150052NF2c.1467T>G (p.His489Gln)
c.*1096T>G (n.*1096T>G)
c.1602T>G (p.His534Gln)
c.1020T>G (p.His340Gln)
c.*1484T>G (n.*1484T>G)
c.1621T>G (n.1621T>G)
c.1353T>G (p.His451Gln)
c.1479T>G (p.His493Gln)
c.1476T>G (p.His492Gln)
c.1515T>G (p.His505Gln)
c.448-13286T>G (n.448-13286T>G)
c.*93+3143T>G (n.*93+3143T>G)
n.2161T>G
c.1488T>G (p.His496Gln)
n.2084T>G
22g.29681467C>ACA411150053NF2c.1468C>A (p.Leu490Met)
c.*1097C>A (n.*1097C>A)
c.1603C>A (p.Leu535Met)
c.1021C>A (p.Leu341Met)
c.*1485C>A (n.*1485C>A)
c.1622C>A (n.1622C>A)
c.1354C>A (p.Leu452Met)
c.1480C>A (p.Leu494Met)
c.1477C>A (p.Leu493Met)
c.1516C>A (p.Leu506Met)
c.448-13285C>A (n.448-13285C>A)
c.*93+3144C>A (n.*93+3144C>A)
n.2162C>A
c.1489C>A (p.Leu497Met)
n.2085C>A
22g.29681467C>GCA411150054NF2c.1468C>G (p.Leu490Val)
c.*1097C>G (n.*1097C>G)
c.1603C>G (p.Leu535Val)
c.1021C>G (p.Leu341Val)
c.*1485C>G (n.*1485C>G)
c.1622C>G (n.1622C>G)
c.1354C>G (p.Leu452Val)
c.1480C>G (p.Leu494Val)
c.1477C>G (p.Leu493Val)
c.1516C>G (p.Leu506Val)
c.448-13285C>G (n.448-13285C>G)
c.*93+3144C>G (n.*93+3144C>G)
n.2162C>G
c.1489C>G (p.Leu497Val)
n.2085C>G
dbSNP
22g.29681467C>TCA514190357NF2c.1468C>T (p.Leu490=)
c.*1097C>T (n.*1097C>T)
c.1603C>T (p.Leu535=)
c.1021C>T (p.Leu341=)
c.*1485C>T (n.*1485C>T)
c.1622C>T (n.1622C>T)
c.1354C>T (p.Leu452=)
c.1480C>T (p.Leu494=)
c.1477C>T (p.Leu493=)
c.1516C>T (p.Leu506=)
c.448-13285C>T (n.448-13285C>T)
c.*93+3144C>T (n.*93+3144C>T)
n.2162C>T
c.1489C>T (p.Leu497=)
n.2085C>T
22g.29681468T>ACA411150055NF2c.1469T>A (p.Leu490Gln)
c.*1098T>A (n.*1098T>A)
c.1604T>A (p.Leu535Gln)
c.1022T>A (p.Leu341Gln)
c.*1486T>A (n.*1486T>A)
c.1623T>A (n.1623T>A)
c.1355T>A (p.Leu452Gln)
c.1481T>A (p.Leu494Gln)
c.1478T>A (p.Leu493Gln)
c.1517T>A (p.Leu506Gln)
c.448-13284T>A (n.448-13284T>A)
c.*93+3145T>A (n.*93+3145T>A)
n.2163T>A
c.1490T>A (p.Leu497Gln)
n.2086T>A
22g.29681468T>CCA021356NF2c.1469T>C (p.Leu490Pro)
c.*1098T>C (n.*1098T>C)
c.1604T>C (p.Leu535Pro)
c.1022T>C (p.Leu341Pro)
c.*1486T>C (n.*1486T>C)
c.1623T>C (n.1623T>C)
c.1355T>C (p.Leu452Pro)
c.1481T>C (p.Leu494Pro)
c.1478T>C (p.Leu493Pro)
c.1517T>C (p.Leu506Pro)
c.448-13284T>C (n.448-13284T>C)
c.*93+3145T>C (n.*93+3145T>C)
n.2163T>C
c.1490T>C (p.Leu497Pro)
n.2086T>C
ClinVar dbSNP
22g.29681468T>GCA411150056NF2c.1469T>G (p.Leu490Arg)
c.*1098T>G (n.*1098T>G)
c.1604T>G (p.Leu535Arg)
c.1022T>G (p.Leu341Arg)
c.*1486T>G (n.*1486T>G)
c.1623T>G (n.1623T>G)
c.1355T>G (p.Leu452Arg)
c.1481T>G (p.Leu494Arg)
c.1478T>G (p.Leu493Arg)
c.1517T>G (p.Leu506Arg)
c.448-13284T>G (n.448-13284T>G)
c.*93+3145T>G (n.*93+3145T>G)
n.2163T>G
c.1490T>G (p.Leu497Arg)
n.2086T>G
22g.29681468T=CA2400686806NF2c.1469T= (p.Leu490=)
c.*1098T= (n.*1098T=)
c.1604T= (p.Leu535=)
c.1022T= (p.Leu341=)
c.*1486T= (n.*1486T=)
c.1623T= (n.1623T=)
c.1355T= (p.Leu452=)
c.1481T= (p.Leu494=)
c.1478T= (p.Leu493=)
c.1517T= (p.Leu506=)
c.448-13284T= (n.448-13284T=)
c.*93+3145T= (n.*93+3145T=)
n.2163T=
c.1490T= (p.Leu497=)
n.2086T=
22g.29681469G>ACA514190359NF2c.1470G>A (p.Leu490=)
c.*1099G>A (n.*1099G>A)
c.1605G>A (p.Leu535=)
c.1023G>A (p.Leu341=)
c.*1487G>A (n.*1487G>A)
c.1624G>A (n.1624G>A)
c.1356G>A (p.Leu452=)
c.1482G>A (p.Leu494=)
c.1479G>A (p.Leu493=)
c.1518G>A (p.Leu506=)
c.448-13283G>A (n.448-13283G>A)
c.*93+3146G>A (n.*93+3146G>A)
n.2164G>A
c.1491G>A (p.Leu497=)
n.2087G>A
ClinVar dbSNP gnomAD v4
22g.29681469G>CCA514190360NF2c.1470G>C (p.Leu490=)
c.*1099G>C (n.*1099G>C)
c.1605G>C (p.Leu535=)
c.1023G>C (p.Leu341=)
c.*1487G>C (n.*1487G>C)
c.1624G>C (n.1624G>C)
c.1356G>C (p.Leu452=)
c.1482G>C (p.Leu494=)
c.1479G>C (p.Leu493=)
c.1518G>C (p.Leu506=)
c.448-13283G>C (n.448-13283G>C)
c.*93+3146G>C (n.*93+3146G>C)
n.2164G>C
c.1491G>C (p.Leu497=)
n.2087G>C
22g.29681469G=CA2400686807NF2c.1470G= (p.Leu490=)
c.*1099G= (n.*1099G=)
c.1605G= (p.Leu535=)
c.1023G= (p.Leu341=)
c.*1487G= (n.*1487G=)
c.1624G= (n.1624G=)
c.1356G= (p.Leu452=)
c.1482G= (p.Leu494=)
c.1479G= (p.Leu493=)
c.1518G= (p.Leu506=)
c.448-13283G= (n.448-13283G=)
c.*93+3146G= (n.*93+3146G=)
n.2164G=
c.1491G= (p.Leu497=)
n.2087G=
22g.29681469G>TCA514190361NF2c.1470G>T (p.Leu490=)
c.*1099G>T (n.*1099G>T)
c.1605G>T (p.Leu535=)
c.1023G>T (p.Leu341=)
c.*1487G>T (n.*1487G>T)
c.1624G>T (n.1624G>T)
c.1356G>T (p.Leu452=)
c.1482G>T (p.Leu494=)
c.1479G>T (p.Leu493=)
c.1518G>T (p.Leu506=)
c.448-13283G>T (n.448-13283G>T)
c.*93+3146G>T (n.*93+3146G>T)
n.2164G>T
c.1491G>T (p.Leu497=)
n.2087G>T
ClinVar gnomAD v4
22g.29681473_29681478delCA2573157892NF2c.1474_1479del (p.Glu492_Gln493del)
c.*1103_*1108del (n.*1103_*1108del)
c.1609_1614del (p.Glu537_Gln538del)
c.1027_1032del (p.Glu343_Gln344del)
c.*1491_*1496del (n.*1491_*1496del)
c.1628_1633del (n.1628_1633del)
c.1360_1365del (p.Glu454_Gln455del)
c.1486_1491del (p.Glu496_Gln497del)
c.1483_1488del (p.Glu495_Gln496del)
c.1522_1527del (p.Glu508_Gln509del)
c.448-13279_448-13274del (n.448-13279_448-13274del)
c.*93+3150_*93+3155del (n.*93+3150_*93+3155del)
n.2168_2173del
c.1495_1500del (p.Glu499_Gln500del)
n.2091_2096del
ClinVar dbSNP
22g.29681470C>ACA411150057NF2c.1471C>A (p.Gln491Lys)
c.*1100C>A (n.*1100C>A)
c.1606C>A (p.Gln536Lys)
c.1024C>A (p.Gln342Lys)
c.*1488C>A (n.*1488C>A)
c.1625C>A (n.1625C>A)
c.1357C>A (p.Gln453Lys)
c.1483C>A (p.Gln495Lys)
c.1480C>A (p.Gln494Lys)
c.1519C>A (p.Gln507Lys)
c.448-13282C>A (n.448-13282C>A)
c.*93+3147C>A (n.*93+3147C>A)
n.2165C>A
c.1492C>A (p.Gln498Lys)
n.2088C>A
22g.29681470C>GCA411150058NF2c.1471C>G (p.Gln491Glu)
c.*1100C>G (n.*1100C>G)
c.1606C>G (p.Gln536Glu)
c.1024C>G (p.Gln342Glu)
c.*1488C>G (n.*1488C>G)
c.1625C>G (n.1625C>G)
c.1357C>G (p.Gln453Glu)
c.1483C>G (p.Gln495Glu)
c.1480C>G (p.Gln494Glu)
c.1519C>G (p.Gln507Glu)
c.448-13282C>G (n.448-13282C>G)
c.*93+3147C>G (n.*93+3147C>G)
n.2165C>G
c.1492C>G (p.Gln498Glu)
n.2088C>G
22g.29681470C>TCA411150059NF2c.1471C>T (p.Gln491Ter)
c.*1100C>T (n.*1100C>T)
c.1606C>T (p.Gln536Ter)
c.1024C>T (p.Gln342Ter)
c.*1488C>T (n.*1488C>T)
c.1625C>T (n.1625C>T)
c.1357C>T (p.Gln453Ter)
c.1483C>T (p.Gln495Ter)
c.1480C>T (p.Gln494Ter)
c.1519C>T (p.Gln507Ter)
c.448-13282C>T (n.448-13282C>T)
c.*93+3147C>T (n.*93+3147C>T)
n.2165C>T
c.1492C>T (p.Gln498Ter)
n.2088C>T
ClinVar dbSNP
22g.29681471A>CCA411150062NF2c.1472A>C (p.Gln491Pro)
c.*1101A>C (n.*1101A>C)
c.1607A>C (p.Gln536Pro)
c.1025A>C (p.Gln342Pro)
c.*1489A>C (n.*1489A>C)
c.1626A>C (n.1626A>C)
c.1358A>C (p.Gln453Pro)
c.1484A>C (p.Gln495Pro)
c.1481A>C (p.Gln494Pro)
c.1520A>C (p.Gln507Pro)
c.448-13281A>C (n.448-13281A>C)
c.*93+3148A>C (n.*93+3148A>C)
n.2166A>C
c.1493A>C (p.Gln498Pro)
n.2089A>C
22g.29681471A>GCA411150060NF2c.1472A>G (p.Gln491Arg)
c.*1101A>G (n.*1101A>G)
c.1607A>G (p.Gln536Arg)
c.1025A>G (p.Gln342Arg)
c.*1489A>G (n.*1489A>G)
c.1626A>G (n.1626A>G)
c.1358A>G (p.Gln453Arg)
c.1484A>G (p.Gln495Arg)
c.1481A>G (p.Gln494Arg)
c.1520A>G (p.Gln507Arg)
c.448-13281A>G (n.448-13281A>G)
c.*93+3148A>G (n.*93+3148A>G)
n.2166A>G
c.1493A>G (p.Gln498Arg)
n.2089A>G
22g.29681471A>TCA411150061NF2c.1472A>T (p.Gln491Leu)
c.*1101A>T (n.*1101A>T)
c.1607A>T (p.Gln536Leu)
c.1025A>T (p.Gln342Leu)
c.*1489A>T (n.*1489A>T)
c.1626A>T (n.1626A>T)
c.1358A>T (p.Gln453Leu)
c.1484A>T (p.Gln495Leu)
c.1481A>T (p.Gln494Leu)
c.1520A>T (p.Gln507Leu)
c.448-13281A>T (n.448-13281A>T)
c.*93+3148A>T (n.*93+3148A>T)
n.2166A>T
c.1493A>T (p.Gln498Leu)
n.2089A>T
22g.29681471_29681474delinsCTCA2695230525NF2c.1472_1475delinsCT (p.Gln491ProfsTer5)
c.*1101_*1104delinsCT (n.*1101_*1104delinsCT)
c.1607_1610delinsCT (p.Gln536ProfsTer5)
c.1025_1028delinsCT (p.Gln342ProfsTer5)
c.*1489_*1492delinsCT (n.*1489_*1492delinsCT)
c.1626_1629delinsCT (n.1626_1629delinsCT)
c.1358_1361delinsCT (p.Gln453ProfsTer5)
c.1484_1487delinsCT (p.Gln495ProfsTer5)
c.1481_1484delinsCT (p.Gln494ProfsTer5)
c.1520_1523delinsCT (p.Gln507ProfsTer5)
c.448-13281_448-13278delinsCT (n.448-13281_448-13278delinsCT)
c.*93+3148_*93+3151delinsCT (n.*93+3148_*93+3151delinsCT)
n.2166_2169delinsCT
c.1493_1496delinsCT (p.Gln498ProfsTer5)
n.2089_2092delinsCT
22g.29681472G>ACA514190363NF2c.1473G>A (p.Gln491=)
c.*1102G>A (n.*1102G>A)
c.1608G>A (p.Gln536=)
c.1026G>A (p.Gln342=)
c.*1490G>A (n.*1490G>A)
c.1627G>A (n.1627G>A)
c.1359G>A (p.Gln453=)
c.1485G>A (p.Gln495=)
c.1482G>A (p.Gln494=)
c.1521G>A (p.Gln507=)
c.448-13280G>A (n.448-13280G>A)
c.*93+3149G>A (n.*93+3149G>A)
n.2167G>A
c.1494G>A (p.Gln498=)
n.2090G>A
ClinVar gnomAD v4
22g.29681472G>CCA411150063NF2c.1473G>C (p.Gln491His)
c.*1102G>C (n.*1102G>C)
c.1608G>C (p.Gln536His)
c.1026G>C (p.Gln342His)
c.*1490G>C (n.*1490G>C)
c.1627G>C (n.1627G>C)
c.1359G>C (p.Gln453His)
c.1485G>C (p.Gln495His)
c.1482G>C (p.Gln494His)
c.1521G>C (p.Gln507His)
c.448-13280G>C (n.448-13280G>C)
c.*93+3149G>C (n.*93+3149G>C)
n.2167G>C
c.1494G>C (p.Gln498His)
n.2090G>C
ClinVar
22g.29681472G>TCA411150064NF2c.1473G>T (p.Gln491His)
c.*1102G>T (n.*1102G>T)
c.1608G>T (p.Gln536His)
c.1026G>T (p.Gln342His)
c.*1490G>T (n.*1490G>T)
c.1627G>T (n.1627G>T)
c.1359G>T (p.Gln453His)
c.1485G>T (p.Gln495His)
c.1482G>T (p.Gln494His)
c.1521G>T (p.Gln507His)
c.448-13280G>T (n.448-13280G>T)
c.*93+3149G>T (n.*93+3149G>T)
n.2167G>T
c.1494G>T (p.Gln498His)
n.2090G>T
22g.29681473delCA2695230526NF2c.1474del (p.Glu492SerfsTer13)
c.*1103del (n.*1103del)
c.1609del (p.Glu537SerfsTer13)
c.1027del (p.Glu343SerfsTer13)
c.*1491del (n.*1491del)
c.1628del (n.1628del)
c.1360del (p.Glu454SerfsTer13)
c.1486del (p.Glu496SerfsTer13)
c.1483del (p.Glu495SerfsTer13)
c.1522del (p.Glu508SerfsTer13)
c.448-13279del (n.448-13279del)
c.*93+3150del (n.*93+3150del)
n.2168del
c.1495del (p.Glu499SerfsTer13)
n.2091del
22g.29681473G>ACA411150065NF2c.1474G>A (p.Glu492Lys)
c.*1103G>A (n.*1103G>A)
c.1609G>A (p.Glu537Lys)
c.1027G>A (p.Glu343Lys)
c.*1491G>A (n.*1491G>A)
c.1628G>A (n.1628G>A)
c.1360G>A (p.Glu454Lys)
c.1486G>A (p.Glu496Lys)
c.1483G>A (p.Glu495Lys)
c.1522G>A (p.Glu508Lys)
c.448-13279G>A (n.448-13279G>A)
c.*93+3150G>A (n.*93+3150G>A)
n.2168G>A
c.1495G>A (p.Glu499Lys)
n.2091G>A
ClinVar gnomAD v4
22g.29681473G>CCA411150066NF2c.1474G>C (p.Glu492Gln)
c.*1103G>C (n.*1103G>C)
c.1609G>C (p.Glu537Gln)
c.1027G>C (p.Glu343Gln)
c.*1491G>C (n.*1491G>C)
c.1628G>C (n.1628G>C)
c.1360G>C (p.Glu454Gln)
c.1486G>C (p.Glu496Gln)
c.1483G>C (p.Glu495Gln)
c.1522G>C (p.Glu508Gln)
c.448-13279G>C (n.448-13279G>C)
c.*93+3150G>C (n.*93+3150G>C)
n.2168G>C
c.1495G>C (p.Glu499Gln)
n.2091G>C
ClinVar
22g.29681473G>TCA411150067NF2c.1474G>T (p.Glu492Ter)
c.*1103G>T (n.*1103G>T)
c.1609G>T (p.Glu537Ter)
c.1027G>T (p.Glu343Ter)
c.*1491G>T (n.*1491G>T)
c.1628G>T (n.1628G>T)
c.1360G>T (p.Glu454Ter)
c.1486G>T (p.Glu496Ter)
c.1483G>T (p.Glu495Ter)
c.1522G>T (p.Glu508Ter)
c.448-13279G>T (n.448-13279G>T)
c.*93+3150G>T (n.*93+3150G>T)
n.2168G>T
c.1495G>T (p.Glu499Ter)
n.2091G>T
COSMIC
22g.29681474A>CCA411150068NF2c.1475A>C (p.Glu492Ala)
c.*1104A>C (n.*1104A>C)
c.1610A>C (p.Glu537Ala)
c.1028A>C (p.Glu343Ala)
c.*1492A>C (n.*1492A>C)
c.1629A>C (n.1629A>C)
c.1361A>C (p.Glu454Ala)
c.1487A>C (p.Glu496Ala)
c.1484A>C (p.Glu495Ala)
c.1523A>C (p.Glu508Ala)
c.448-13278A>C (n.448-13278A>C)
c.*93+3151A>C (n.*93+3151A>C)
n.2169A>C
c.1496A>C (p.Glu499Ala)
n.2092A>C
ClinVar dbSNP
22g.29681474A>GCA411150070NF2c.1475A>G (p.Glu492Gly)
c.*1104A>G (n.*1104A>G)
c.1610A>G (p.Glu537Gly)
c.1028A>G (p.Glu343Gly)
c.*1492A>G (n.*1492A>G)
c.1629A>G (n.1629A>G)
c.1361A>G (p.Glu454Gly)
c.1487A>G (p.Glu496Gly)
c.1484A>G (p.Glu495Gly)
c.1523A>G (p.Glu508Gly)
c.448-13278A>G (n.448-13278A>G)
c.*93+3151A>G (n.*93+3151A>G)
n.2169A>G
c.1496A>G (p.Glu499Gly)
n.2092A>G
22g.29681474A>TCA411150069NF2c.1475A>T (p.Glu492Val)
c.*1104A>T (n.*1104A>T)
c.1610A>T (p.Glu537Val)
c.1028A>T (p.Glu343Val)
c.*1492A>T (n.*1492A>T)
c.1629A>T (n.1629A>T)
c.1361A>T (p.Glu454Val)
c.1487A>T (p.Glu496Val)
c.1484A>T (p.Glu495Val)
c.1523A>T (p.Glu508Val)
c.448-13278A>T (n.448-13278A>T)
c.*93+3151A>T (n.*93+3151A>T)
n.2169A>T
c.1496A>T (p.Glu499Val)
n.2092A>T
22g.29681475G>ACA323120904NF2c.1476G>A (p.Glu492=)
c.*1105G>A (n.*1105G>A)
c.1611G>A (p.Glu537=)
c.1029G>A (p.Glu343=)
c.*1493G>A (n.*1493G>A)
c.1630G>A (n.1630G>A)
c.1362G>A (p.Glu454=)
c.1488G>A (p.Glu496=)
c.1485G>A (p.Glu495=)
c.1524G>A (p.Glu508=)
c.448-13277G>A (n.448-13277G>A)
c.*93+3152G>A (n.*93+3152G>A)
n.2170G>A
c.1497G>A (p.Glu499=)
n.2093G>A
dbSNP
22g.29681475G>CCA411150071NF2c.1476G>C (p.Glu492Asp)
c.*1105G>C (n.*1105G>C)
c.1611G>C (p.Glu537Asp)
c.1029G>C (p.Glu343Asp)
c.*1493G>C (n.*1493G>C)
c.1630G>C (n.1630G>C)
c.1362G>C (p.Glu454Asp)
c.1488G>C (p.Glu496Asp)
c.1485G>C (p.Glu495Asp)
c.1524G>C (p.Glu508Asp)
c.448-13277G>C (n.448-13277G>C)
c.*93+3152G>C (n.*93+3152G>C)
n.2170G>C
c.1497G>C (p.Glu499Asp)
n.2093G>C
22g.29681475G=CA2400686808NF2c.1476G= (p.Glu492=)
c.*1105G= (n.*1105G=)
c.1611G= (p.Glu537=)
c.1029G= (p.Glu343=)
c.*1493G= (n.*1493G=)
c.1630G= (n.1630G=)
c.1362G= (p.Glu454=)
c.1488G= (p.Glu496=)
c.1485G= (p.Glu495=)
c.1524G= (p.Glu508=)
c.448-13277G= (n.448-13277G=)
c.*93+3152G= (n.*93+3152G=)
n.2170G=
c.1497G= (p.Glu499=)
n.2093G=
22g.29681475G>TCA411150072NF2c.1476G>T (p.Glu492Asp)
c.*1105G>T (n.*1105G>T)
c.1611G>T (p.Glu537Asp)
c.1029G>T (p.Glu343Asp)
c.*1493G>T (n.*1493G>T)
c.1630G>T (n.1630G>T)
c.1362G>T (p.Glu454Asp)
c.1488G>T (p.Glu496Asp)
c.1485G>T (p.Glu495Asp)
c.1524G>T (p.Glu508Asp)
c.448-13277G>T (n.448-13277G>T)
c.*93+3152G>T (n.*93+3152G>T)
n.2170G>T
c.1497G>T (p.Glu499Asp)
n.2093G>T
ClinVar dbSNP
22g.29681475_29681515delCA2695230527NF2c.1476_1516del (p.Glu492AspfsTer14)
c.*1105_*1145del (n.*1105_*1145del)
c.1611_1651del (p.Glu537AspfsTer14)
c.1029_1069del (p.Glu343AspfsTer14)
c.*1493_*1533del (n.*1493_*1533del)
c.1630_1670del (n.1630_1670del)
c.1362_1402del (p.Glu454AspfsTer14)
c.1488_1528del (p.Glu496AspfsTer14)
c.1485_1525del (p.Glu495AspfsTer14)
c.1524_1564del (p.Glu508AspfsTer14)
c.448-13277_448-13237del (n.448-13277_448-13237del)
c.*93+3152_*93+3192del (n.*93+3152_*93+3192del)
n.2170_2210del
c.1497_1537del (p.Glu499AspfsTer14)
n.2093_2133del
22g.29681476C>ACA411150073NF2c.1477C>A (p.Gln493Lys)
c.*1106C>A (n.*1106C>A)
c.1612C>A (p.Gln538Lys)
c.1030C>A (p.Gln344Lys)
c.*1494C>A (n.*1494C>A)
c.1631C>A (n.1631C>A)
c.1363C>A (p.Gln455Lys)
c.1489C>A (p.Gln497Lys)
c.1486C>A (p.Gln496Lys)
c.1525C>A (p.Gln509Lys)
c.448-13276C>A (n.448-13276C>A)
c.*93+3153C>A (n.*93+3153C>A)
n.2171C>A
c.1498C>A (p.Gln500Lys)
n.2094C>A
22g.29681476C>GCA411150074NF2c.1477C>G (p.Gln493Glu)
c.*1106C>G (n.*1106C>G)
c.1612C>G (p.Gln538Glu)
c.1030C>G (p.Gln344Glu)
c.*1494C>G (n.*1494C>G)
c.1631C>G (n.1631C>G)
c.1363C>G (p.Gln455Glu)
c.1489C>G (p.Gln497Glu)
c.1486C>G (p.Gln496Glu)
c.1525C>G (p.Gln509Glu)
c.448-13276C>G (n.448-13276C>G)
c.*93+3153C>G (n.*93+3153C>G)
n.2171C>G
c.1498C>G (p.Gln500Glu)
n.2094C>G
22g.29681476C>TCA411150075NF2c.1477C>T (p.Gln493Ter)
c.*1106C>T (n.*1106C>T)
c.1612C>T (p.Gln538Ter)
c.1030C>T (p.Gln344Ter)
c.*1494C>T (n.*1494C>T)
c.1631C>T (n.1631C>T)
c.1363C>T (p.Gln455Ter)
c.1489C>T (p.Gln497Ter)
c.1486C>T (p.Gln496Ter)
c.1525C>T (p.Gln509Ter)
c.448-13276C>T (n.448-13276C>T)
c.*93+3153C>T (n.*93+3153C>T)
n.2171C>T
c.1498C>T (p.Gln500Ter)
n.2094C>T
ClinVar dbSNP COSMIC
22g.29681477A=CA2400686809NF2c.1478A= (p.Gln493=)
c.*1107A= (n.*1107A=)
c.1613A= (p.Gln538=)
c.1031A= (p.Gln344=)
c.*1495A= (n.*1495A=)
c.1632A= (n.1632A=)
c.1364A= (p.Gln455=)
c.1490A= (p.Gln497=)
c.1487A= (p.Gln496=)
c.1526A= (p.Gln509=)
c.448-13275A= (n.448-13275A=)
c.*93+3154A= (n.*93+3154A=)
n.2172A=
c.1499A= (p.Gln500=)
n.2095A=
22g.29681477A>CCA021363NF2c.1478A>C (p.Gln493Pro)
c.*1107A>C (n.*1107A>C)
c.1613A>C (p.Gln538Pro)
c.1031A>C (p.Gln344Pro)
c.*1495A>C (n.*1495A>C)
c.1632A>C (n.1632A>C)
c.1364A>C (p.Gln455Pro)
c.1490A>C (p.Gln497Pro)
c.1487A>C (p.Gln496Pro)
c.1526A>C (p.Gln509Pro)
c.448-13275A>C (n.448-13275A>C)
c.*93+3154A>C (n.*93+3154A>C)
n.2172A>C
c.1499A>C (p.Gln500Pro)
n.2095A>C
ClinVar dbSNP
22g.29681477A>GCA411150076NF2c.1478A>G (p.Gln493Arg)
c.*1107A>G (n.*1107A>G)
c.1613A>G (p.Gln538Arg)
c.1031A>G (p.Gln344Arg)
c.*1495A>G (n.*1495A>G)
c.1632A>G (n.1632A>G)
c.1364A>G (p.Gln455Arg)
c.1490A>G (p.Gln497Arg)
c.1487A>G (p.Gln496Arg)
c.1526A>G (p.Gln509Arg)
c.448-13275A>G (n.448-13275A>G)
c.*93+3154A>G (n.*93+3154A>G)
n.2172A>G
c.1499A>G (p.Gln500Arg)
n.2095A>G
22g.29681477A>TCA411150077NF2c.1478A>T (p.Gln493Leu)
c.*1107A>T (n.*1107A>T)
c.1613A>T (p.Gln538Leu)
c.1031A>T (p.Gln344Leu)
c.*1495A>T (n.*1495A>T)
c.1632A>T (n.1632A>T)
c.1364A>T (p.Gln455Leu)
c.1490A>T (p.Gln497Leu)
c.1487A>T (p.Gln496Leu)
c.1526A>T (p.Gln509Leu)
c.448-13275A>T (n.448-13275A>T)
c.*93+3154A>T (n.*93+3154A>T)
n.2172A>T
c.1499A>T (p.Gln500Leu)
n.2095A>T
22g.29681477dupCA2499226115NF2c.1478dup (p.Leu494AlafsTer3)
c.*1107dup (n.*1107dup)
c.1613dup (p.Leu539AlafsTer3)
c.1031dup (p.Leu345AlafsTer3)
c.*1495dup (n.*1495dup)
c.1632dup (n.1632dup)
c.1364dup (p.Leu456AlafsTer3)
c.1490dup (p.Leu498AlafsTer3)
c.1487dup (p.Leu497AlafsTer3)
c.1526dup (p.Leu510AlafsTer3)
c.448-13275dup (n.448-13275dup)
c.*93+3154dup (n.*93+3154dup)
n.2172dup
c.1499dup (p.Leu501AlafsTer3)
n.2095dup
ClinVar dbSNP
22g.29681478delCA514190378NF2c.1479del (p.Gln493HisfsTer12)
c.*1108del (n.*1108del)
c.1614del (p.Gln538HisfsTer12)
c.1032del (p.Gln344HisfsTer12)
c.*1496del (n.*1496del)
c.1633del (n.1633del)
c.1365del (p.Gln455HisfsTer12)
c.1491del (p.Gln497HisfsTer12)
c.1488del (p.Gln496HisfsTer12)
c.1527del (p.Gln509HisfsTer12)
c.448-13274del (n.448-13274del)
c.*93+3155del (n.*93+3155del)
n.2173del
c.1500del (p.Gln500HisfsTer12)
n.2096del
COSMIC
22g.29681478G>ACA514190376NF2c.1479G>A (p.Gln493=)
c.*1108G>A (n.*1108G>A)
c.1614G>A (p.Gln538=)
c.1032G>A (p.Gln344=)
c.*1496G>A (n.*1496G>A)
c.1633G>A (n.1633G>A)
c.1365G>A (p.Gln455=)
c.1491G>A (p.Gln497=)
c.1488G>A (p.Gln496=)
c.1527G>A (p.Gln509=)
c.448-13274G>A (n.448-13274G>A)
c.*93+3155G>A (n.*93+3155G>A)
n.2173G>A
c.1500G>A (p.Gln500=)
n.2096G>A
ClinVar dbSNP
22g.29681478G>CCA411150078NF2c.1479G>C (p.Gln493His)
c.*1108G>C (n.*1108G>C)
c.1614G>C (p.Gln538His)
c.1032G>C (p.Gln344His)
c.*1496G>C (n.*1496G>C)
c.1633G>C (n.1633G>C)
c.1365G>C (p.Gln455His)
c.1491G>C (p.Gln497His)
c.1488G>C (p.Gln496His)
c.1527G>C (p.Gln509His)
c.448-13274G>C (n.448-13274G>C)
c.*93+3155G>C (n.*93+3155G>C)
n.2173G>C
c.1500G>C (p.Gln500His)
n.2096G>C
22g.29681478G=CA2400686810NF2c.1479G= (p.Gln493=)
c.*1108G= (n.*1108G=)
c.1614G= (p.Gln538=)
c.1032G= (p.Gln344=)
c.*1496G= (n.*1496G=)
c.1633G= (n.1633G=)
c.1365G= (p.Gln455=)
c.1491G= (p.Gln497=)
c.1488G= (p.Gln496=)
c.1527G= (p.Gln509=)
c.448-13274G= (n.448-13274G=)
c.*93+3155G= (n.*93+3155G=)
n.2173G=
c.1500G= (p.Gln500=)
n.2096G=
22g.29681478G>TCA411150079NF2c.1479G>T (p.Gln493His)
c.*1108G>T (n.*1108G>T)
c.1614G>T (p.Gln538His)
c.1032G>T (p.Gln344His)
c.*1496G>T (n.*1496G>T)
c.1633G>T (n.1633G>T)
c.1365G>T (p.Gln455His)
c.1491G>T (p.Gln497His)
c.1488G>T (p.Gln496His)
c.1527G>T (p.Gln509His)
c.448-13274G>T (n.448-13274G>T)
c.*93+3155G>T (n.*93+3155G>T)
n.2173G>T
c.1500G>T (p.Gln500His)
n.2096G>T
22g.29681479C>ACA411150082NF2c.1480C>A (p.Leu494Ile)
c.*1109C>A (n.*1109C>A)
c.1615C>A (p.Leu539Ile)
c.1033C>A (p.Leu345Ile)
c.*1497C>A (n.*1497C>A)
c.1634C>A (n.1634C>A)
c.1366C>A (p.Leu456Ile)
c.1492C>A (p.Leu498Ile)
c.1489C>A (p.Leu497Ile)
c.1528C>A (p.Leu510Ile)
c.448-13273C>A (n.448-13273C>A)
c.*93+3156C>A (n.*93+3156C>A)
n.2174C>A
c.1501C>A (p.Leu501Ile)
n.2097C>A
22g.29681479C>GCA411150081NF2c.1480C>G (p.Leu494Val)
c.*1109C>G (n.*1109C>G)
c.1615C>G (p.Leu539Val)
c.1033C>G (p.Leu345Val)
c.*1497C>G (n.*1497C>G)
c.1634C>G (n.1634C>G)
c.1366C>G (p.Leu456Val)
c.1492C>G (p.Leu498Val)
c.1489C>G (p.Leu497Val)
c.1528C>G (p.Leu510Val)
c.448-13273C>G (n.448-13273C>G)
c.*93+3156C>G (n.*93+3156C>G)
n.2174C>G
c.1501C>G (p.Leu501Val)
n.2097C>G
ClinVar gnomAD v4
22g.29681479C>TCA411150080NF2c.1480C>T (p.Leu494Phe)
c.*1109C>T (n.*1109C>T)
c.1615C>T (p.Leu539Phe)
c.1033C>T (p.Leu345Phe)
c.*1497C>T (n.*1497C>T)
c.1634C>T (n.1634C>T)
c.1366C>T (p.Leu456Phe)
c.1492C>T (p.Leu498Phe)
c.1489C>T (p.Leu497Phe)
c.1528C>T (p.Leu510Phe)
c.448-13273C>T (n.448-13273C>T)
c.*93+3156C>T (n.*93+3156C>T)
n.2174C>T
c.1501C>T (p.Leu501Phe)
n.2097C>T
ClinVar
22g.29681480T>ACA411150083NF2c.1481T>A (p.Leu494His)
c.*1110T>A (n.*1110T>A)
c.1616T>A (p.Leu539His)
c.1034T>A (p.Leu345His)
c.*1498T>A (n.*1498T>A)
c.1635T>A (n.1635T>A)
c.1367T>A (p.Leu456His)
c.1493T>A (p.Leu498His)
c.1490T>A (p.Leu497His)
c.1529T>A (p.Leu510His)
c.448-13272T>A (n.448-13272T>A)
c.*93+3157T>A (n.*93+3157T>A)
n.2175T>A
c.1502T>A (p.Leu501His)
n.2098T>A
dbSNP COSMIC
22g.29681480T>CCA411150084NF2c.1481T>C (p.Leu494Pro)
c.*1110T>C (n.*1110T>C)
c.1616T>C (p.Leu539Pro)
c.1034T>C (p.Leu345Pro)
c.*1498T>C (n.*1498T>C)
c.1635T>C (n.1635T>C)
c.1367T>C (p.Leu456Pro)
c.1493T>C (p.Leu498Pro)
c.1490T>C (p.Leu497Pro)
c.1529T>C (p.Leu510Pro)
c.448-13272T>C (n.448-13272T>C)
c.*93+3157T>C (n.*93+3157T>C)
n.2175T>C
c.1502T>C (p.Leu501Pro)
n.2098T>C
ClinVar dbSNP
22g.29681480T>GCA411150085NF2c.1481T>G (p.Leu494Arg)
c.*1110T>G (n.*1110T>G)
c.1616T>G (p.Leu539Arg)
c.1034T>G (p.Leu345Arg)
c.*1498T>G (n.*1498T>G)
c.1635T>G (n.1635T>G)
c.1367T>G (p.Leu456Arg)
c.1493T>G (p.Leu498Arg)
c.1490T>G (p.Leu497Arg)
c.1529T>G (p.Leu510Arg)
c.448-13272T>G (n.448-13272T>G)
c.*93+3157T>G (n.*93+3157T>G)
n.2175T>G
c.1502T>G (p.Leu501Arg)
n.2098T>G
22g.29681481C>ACA514190382NF2c.1482C>A (p.Leu494=)
c.*1111C>A (n.*1111C>A)
c.1617C>A (p.Leu539=)
c.1035C>A (p.Leu345=)
c.*1499C>A (n.*1499C>A)
c.1636C>A (n.1636C>A)
c.1368C>A (p.Leu456=)
c.1494C>A (p.Leu498=)
c.1491C>A (p.Leu497=)
c.1530C>A (p.Leu510=)
c.448-13271C>A (n.448-13271C>A)
c.*93+3158C>A (n.*93+3158C>A)
n.2176C>A
c.1503C>A (p.Leu501=)
n.2099C>A
22g.29681481C=CA2400686811NF2c.1482C= (p.Leu494=)
c.*1111C= (n.*1111C=)
c.1617C= (p.Leu539=)
c.1035C= (p.Leu345=)
c.*1499C= (n.*1499C=)
c.1636C= (n.1636C=)
c.1368C= (p.Leu456=)
c.1494C= (p.Leu498=)
c.1491C= (p.Leu497=)
c.1530C= (p.Leu510=)
c.448-13271C= (n.448-13271C=)
c.*93+3158C= (n.*93+3158C=)
n.2176C=
c.1503C= (p.Leu501=)
n.2099C=
22g.29681481C>GCA514190384NF2c.1482C>G (p.Leu494=)
c.*1111C>G (n.*1111C>G)
c.1617C>G (p.Leu539=)
c.1035C>G (p.Leu345=)
c.*1499C>G (n.*1499C>G)
c.1636C>G (n.1636C>G)
c.1368C>G (p.Leu456=)
c.1494C>G (p.Leu498=)
c.1491C>G (p.Leu497=)
c.1530C>G (p.Leu510=)
c.448-13271C>G (n.448-13271C>G)
c.*93+3158C>G (n.*93+3158C>G)
n.2176C>G
c.1503C>G (p.Leu501=)
n.2099C>G
22g.29681481C>TCA514190383NF2c.1482C>T (p.Leu494=)
c.*1111C>T (n.*1111C>T)
c.1617C>T (p.Leu539=)
c.1035C>T (p.Leu345=)
c.*1499C>T (n.*1499C>T)
c.1636C>T (n.1636C>T)
c.1368C>T (p.Leu456=)
c.1494C>T (p.Leu498=)
c.1491C>T (p.Leu497=)
c.1530C>T (p.Leu510=)
c.448-13271C>T (n.448-13271C>T)
c.*93+3158C>T (n.*93+3158C>T)
n.2176C>T
c.1503C>T (p.Leu501=)
n.2099C>T
ClinVar dbSNP
22g.29681481dupCA2695230528NF2c.1482dup (p.Asn495GlnfsTer2)
c.*1111dup (n.*1111dup)
c.1617dup (p.Asn540GlnfsTer2)
c.1035dup (p.Asn346GlnfsTer2)
c.*1499dup (n.*1499dup)
c.1636dup (n.1636dup)
c.1368dup (p.Asn457GlnfsTer2)
c.1494dup (p.Asn499GlnfsTer2)
c.1491dup (p.Asn498GlnfsTer2)
c.1530dup (p.Asn511GlnfsTer2)
c.448-13271dup (n.448-13271dup)
c.*93+3158dup (n.*93+3158dup)
n.2176dup
c.1503dup (p.Asn502GlnfsTer2)
n.2099dup
22g.29681482A=CA2400686812NF2c.1483A= (p.Asn495=)
c.*1112A= (n.*1112A=)
c.1618A= (p.Asn540=)
c.1036A= (p.Asn346=)
c.*1500A= (n.*1500A=)
c.1637A= (n.1637A=)
c.1369A= (p.Asn457=)
c.1495A= (p.Asn499=)
c.1492A= (p.Asn498=)
c.1531A= (p.Asn511=)
c.448-13270A= (n.448-13270A=)
c.*93+3159A= (n.*93+3159A=)
n.2177A=
c.1504A= (p.Asn502=)
n.2100A=
22g.29681482A>CCA411150086NF2c.1483A>C (p.Asn495His)
c.*1112A>C (n.*1112A>C)
c.1618A>C (p.Asn540His)
c.1036A>C (p.Asn346His)
c.*1500A>C (n.*1500A>C)
c.1637A>C (n.1637A>C)
c.1369A>C (p.Asn457His)
c.1495A>C (p.Asn499His)
c.1492A>C (p.Asn498His)
c.1531A>C (p.Asn511His)
c.448-13270A>C (n.448-13270A>C)
c.*93+3159A>C (n.*93+3159A>C)
n.2177A>C
c.1504A>C (p.Asn502His)
n.2100A>C
22g.29681482A>GCA411150087NF2c.1483A>G (p.Asn495Asp)
c.*1112A>G (n.*1112A>G)
c.1618A>G (p.Asn540Asp)
c.1036A>G (p.Asn346Asp)
c.*1500A>G (n.*1500A>G)
c.1637A>G (n.1637A>G)
c.1369A>G (p.Asn457Asp)
c.1495A>G (p.Asn499Asp)
c.1492A>G (p.Asn498Asp)
c.1531A>G (p.Asn511Asp)
c.448-13270A>G (n.448-13270A>G)
c.*93+3159A>G (n.*93+3159A>G)
n.2177A>G
c.1504A>G (p.Asn502Asp)
n.2100A>G
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
22g.29681482A>TCA411150088NF2c.1483A>T (p.Asn495Tyr)
c.*1112A>T (n.*1112A>T)
c.1618A>T (p.Asn540Tyr)
c.1036A>T (p.Asn346Tyr)
c.*1500A>T (n.*1500A>T)
c.1637A>T (n.1637A>T)
c.1369A>T (p.Asn457Tyr)
c.1495A>T (p.Asn499Tyr)
c.1492A>T (p.Asn498Tyr)
c.1531A>T (p.Asn511Tyr)
c.448-13270A>T (n.448-13270A>T)
c.*93+3159A>T (n.*93+3159A>T)
n.2177A>T
c.1504A>T (p.Asn502Tyr)
n.2100A>T
22g.29681483A=CA2400686813NF2c.1484A= (p.Asn495=)
c.*1113A= (n.*1113A=)
c.1619A= (p.Asn540=)
c.1037A= (p.Asn346=)
c.*1501A= (n.*1501A=)
c.1638A= (n.1638A=)
c.1370A= (p.Asn457=)
c.1496A= (p.Asn499=)
c.1493A= (p.Asn498=)
c.1532A= (p.Asn511=)
c.448-13269A= (n.448-13269A=)
c.*93+3160A= (n.*93+3160A=)
n.2178A=
c.1505A= (p.Asn502=)
n.2101A=
22g.29681483A>CCA411150090NF2c.1484A>C (p.Asn495Thr)
c.*1113A>C (n.*1113A>C)
c.1619A>C (p.Asn540Thr)
c.1037A>C (p.Asn346Thr)
c.*1501A>C (n.*1501A>C)
c.1638A>C (n.1638A>C)
c.1370A>C (p.Asn457Thr)
c.1496A>C (p.Asn499Thr)
c.1493A>C (p.Asn498Thr)
c.1532A>C (p.Asn511Thr)
c.448-13269A>C (n.448-13269A>C)
c.*93+3160A>C (n.*93+3160A>C)
n.2178A>C
c.1505A>C (p.Asn502Thr)
n.2101A>C
22g.29681483A>GCA032390NF2c.1484A>G (p.Asn495Ser)
c.*1113A>G (n.*1113A>G)
c.1619A>G (p.Asn540Ser)
c.1037A>G (p.Asn346Ser)
c.*1501A>G (n.*1501A>G)
c.1638A>G (n.1638A>G)
c.1370A>G (p.Asn457Ser)
c.1496A>G (p.Asn499Ser)
c.1493A>G (p.Asn498Ser)
c.1532A>G (p.Asn511Ser)
c.448-13269A>G (n.448-13269A>G)
c.*93+3160A>G (n.*93+3160A>G)
n.2178A>G
c.1505A>G (p.Asn502Ser)
n.2101A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.29681483A>TCA411150089NF2c.1484A>T (p.Asn495Ile)
c.*1113A>T (n.*1113A>T)
c.1619A>T (p.Asn540Ile)
c.1037A>T (p.Asn346Ile)
c.*1501A>T (n.*1501A>T)
c.1638A>T (n.1638A>T)
c.1370A>T (p.Asn457Ile)
c.1496A>T (p.Asn499Ile)
c.1493A>T (p.Asn498Ile)
c.1532A>T (p.Asn511Ile)
c.448-13269A>T (n.448-13269A>T)
c.*93+3160A>T (n.*93+3160A>T)
n.2178A>T
c.1505A>T (p.Asn502Ile)
n.2101A>T
22g.29681484T>ACA411150091NF2c.1485T>A (p.Asn495Lys)
c.*1114T>A (n.*1114T>A)
c.1620T>A (p.Asn540Lys)
c.1038T>A (p.Asn346Lys)
c.*1502T>A (n.*1502T>A)
c.1639T>A (n.1639T>A)
c.1371T>A (p.Asn457Lys)
c.1497T>A (p.Asn499Lys)
c.1494T>A (p.Asn498Lys)
c.1533T>A (p.Asn511Lys)
c.448-13268T>A (n.448-13268T>A)
c.*93+3161T>A (n.*93+3161T>A)
n.2179T>A
c.1506T>A (p.Asn502Lys)
n.2102T>A
22g.29681484T>CCA514190389NF2c.1485T>C (p.Asn495=)
c.*1114T>C (n.*1114T>C)
c.1620T>C (p.Asn540=)
c.1038T>C (p.Asn346=)
c.*1502T>C (n.*1502T>C)
c.1639T>C (n.1639T>C)
c.1371T>C (p.Asn457=)
c.1497T>C (p.Asn499=)
c.1494T>C (p.Asn498=)
c.1533T>C (p.Asn511=)
c.448-13268T>C (n.448-13268T>C)
c.*93+3161T>C (n.*93+3161T>C)
n.2179T>C
c.1506T>C (p.Asn502=)
n.2102T>C
22g.29681484T>GCA411150092NF2c.1485T>G (p.Asn495Lys)
c.*1114T>G (n.*1114T>G)
c.1620T>G (p.Asn540Lys)
c.1038T>G (p.Asn346Lys)
c.*1502T>G (n.*1502T>G)
c.1639T>G (n.1639T>G)
c.1371T>G (p.Asn457Lys)
c.1497T>G (p.Asn499Lys)
c.1494T>G (p.Asn498Lys)
c.1533T>G (p.Asn511Lys)
c.448-13268T>G (n.448-13268T>G)
c.*93+3161T>G (n.*93+3161T>G)
n.2179T>G
c.1506T>G (p.Asn502Lys)
n.2102T>G
22g.29681485delCA514190390NF2c.1486del (p.Glu496AsnfsTer9)
c.*1115del (n.*1115del)
c.1621del (p.Glu541AsnfsTer9)
c.1039del (p.Glu347AsnfsTer9)
c.*1503del (n.*1503del)
c.1640del (n.1640del)
c.1372del (p.Glu458AsnfsTer9)
c.1498del (p.Glu500AsnfsTer9)
c.1495del (p.Glu499AsnfsTer9)
c.1534del (p.Glu512AsnfsTer9)
c.448-13267del (n.448-13267del)
c.*93+3162del (n.*93+3162del)
n.2180del
c.1507del (p.Glu503AsnfsTer9)
n.2103del
COSMIC
22g.29681485G>ACA411150093NF2c.1486G>A (p.Glu496Lys)
c.*1115G>A (n.*1115G>A)
c.1621G>A (p.Glu541Lys)
c.1039G>A (p.Glu347Lys)
c.*1503G>A (n.*1503G>A)
c.1640G>A (n.1640G>A)
c.1372G>A (p.Glu458Lys)
c.1498G>A (p.Glu500Lys)
c.1495G>A (p.Glu499Lys)
c.1534G>A (p.Glu512Lys)
c.448-13267G>A (n.448-13267G>A)
c.*93+3162G>A (n.*93+3162G>A)
n.2180G>A
c.1507G>A (p.Glu503Lys)
n.2103G>A
22g.29681485G>CCA411150094NF2c.1486G>C (p.Glu496Gln)
c.*1115G>C (n.*1115G>C)
c.1621G>C (p.Glu541Gln)
c.1039G>C (p.Glu347Gln)
c.*1503G>C (n.*1503G>C)
c.1640G>C (n.1640G>C)
c.1372G>C (p.Glu458Gln)
c.1498G>C (p.Glu500Gln)
c.1495G>C (p.Glu499Gln)
c.1534G>C (p.Glu512Gln)
c.448-13267G>C (n.448-13267G>C)
c.*93+3162G>C (n.*93+3162G>C)
n.2180G>C
c.1507G>C (p.Glu503Gln)
n.2103G>C
22g.29681485G>TCA411150095NF2c.1486G>T (p.Glu496Ter)
c.*1115G>T (n.*1115G>T)
c.1621G>T (p.Glu541Ter)
c.1039G>T (p.Glu347Ter)
c.*1503G>T (n.*1503G>T)
c.1640G>T (n.1640G>T)
c.1372G>T (p.Glu458Ter)
c.1498G>T (p.Glu500Ter)
c.1495G>T (p.Glu499Ter)
c.1534G>T (p.Glu512Ter)
c.448-13267G>T (n.448-13267G>T)
c.*93+3162G>T (n.*93+3162G>T)
n.2180G>T
c.1507G>T (p.Glu503Ter)
n.2103G>T
ClinVar dbSNP
22g.29681486A>CCA411150096NF2c.1487A>C (p.Glu496Ala)
c.*1116A>C (n.*1116A>C)
c.1622A>C (p.Glu541Ala)
c.1040A>C (p.Glu347Ala)
c.*1504A>C (n.*1504A>C)
c.1641A>C (n.1641A>C)
c.1373A>C (p.Glu458Ala)
c.1499A>C (p.Glu500Ala)
c.1496A>C (p.Glu499Ala)
c.1535A>C (p.Glu512Ala)
c.448-13266A>C (n.448-13266A>C)
c.*93+3163A>C (n.*93+3163A>C)
n.2181A>C
c.1508A>C (p.Glu503Ala)
n.2104A>C
22g.29681486A>GCA411150098NF2c.1487A>G (p.Glu496Gly)
c.*1116A>G (n.*1116A>G)
c.1622A>G (p.Glu541Gly)
c.1040A>G (p.Glu347Gly)
c.*1504A>G (n.*1504A>G)
c.1641A>G (n.1641A>G)
c.1373A>G (p.Glu458Gly)
c.1499A>G (p.Glu500Gly)
c.1496A>G (p.Glu499Gly)
c.1535A>G (p.Glu512Gly)
c.448-13266A>G (n.448-13266A>G)
c.*93+3163A>G (n.*93+3163A>G)
n.2181A>G
c.1508A>G (p.Glu503Gly)
n.2104A>G
22g.29681486A>TCA411150097NF2c.1487A>T (p.Glu496Val)
c.*1116A>T (n.*1116A>T)
c.1622A>T (p.Glu541Val)
c.1040A>T (p.Glu347Val)
c.*1504A>T (n.*1504A>T)
c.1641A>T (n.1641A>T)
c.1373A>T (p.Glu458Val)
c.1499A>T (p.Glu500Val)
c.1496A>T (p.Glu499Val)
c.1535A>T (p.Glu512Val)
c.448-13266A>T (n.448-13266A>T)
c.*93+3163A>T (n.*93+3163A>T)
n.2181A>T
c.1508A>T (p.Glu503Val)
n.2104A>T
22g.29681487A=CA2400686814NF2c.1488A= (p.Glu496=)
c.*1117A= (n.*1117A=)
c.1623A= (p.Glu541=)
c.1041A= (p.Glu347=)
c.*1505A= (n.*1505A=)
c.1642A= (n.1642A=)
c.1374A= (p.Glu458=)
c.1500A= (p.Glu500=)
c.1497A= (p.Glu499=)
c.1536A= (p.Glu512=)
c.448-13265A= (n.448-13265A=)
c.*93+3164A= (n.*93+3164A=)
n.2182A=
c.1509A= (p.Glu503=)
n.2105A=
22g.29681487A>CCA411150099NF2c.1488A>C (p.Glu496Asp)
c.*1117A>C (n.*1117A>C)
c.1623A>C (p.Glu541Asp)
c.1041A>C (p.Glu347Asp)
c.*1505A>C (n.*1505A>C)
c.1642A>C (n.1642A>C)
c.1374A>C (p.Glu458Asp)
c.1500A>C (p.Glu500Asp)
c.1497A>C (p.Glu499Asp)
c.1536A>C (p.Glu512Asp)
c.448-13265A>C (n.448-13265A>C)
c.*93+3164A>C (n.*93+3164A>C)
n.2182A>C
c.1509A>C (p.Glu503Asp)
n.2105A>C
ClinVar
22g.29681487A>GCA323120916NF2c.1488A>G (p.Glu496=)
c.*1117A>G (n.*1117A>G)
c.1623A>G (p.Glu541=)
c.1041A>G (p.Glu347=)
c.*1505A>G (n.*1505A>G)
c.1642A>G (n.1642A>G)
c.1374A>G (p.Glu458=)
c.1500A>G (p.Glu500=)
c.1497A>G (p.Glu499=)
c.1536A>G (p.Glu512=)
c.448-13265A>G (n.448-13265A>G)
c.*93+3164A>G (n.*93+3164A>G)
n.2182A>G
c.1509A>G (p.Glu503=)
n.2105A>G
dbSNP
22g.29681487A>TCA411150100NF2c.1488A>T (p.Glu496Asp)
c.*1117A>T (n.*1117A>T)
c.1623A>T (p.Glu541Asp)
c.1041A>T (p.Glu347Asp)
c.*1505A>T (n.*1505A>T)
c.1642A>T (n.1642A>T)
c.1374A>T (p.Glu458Asp)
c.1500A>T (p.Glu500Asp)
c.1497A>T (p.Glu499Asp)
c.1536A>T (p.Glu512Asp)
c.448-13265A>T (n.448-13265A>T)
c.*93+3164A>T (n.*93+3164A>T)
n.2182A>T
c.1509A>T (p.Glu503Asp)
n.2105A>T
22g.29681488C>ACA411150101NF2c.1489C>A (p.Leu497Ile)
c.*1118C>A (n.*1118C>A)
c.1624C>A (p.Leu542Ile)
c.1042C>A (p.Leu348Ile)
c.*1506C>A (n.*1506C>A)
c.1643C>A (n.1643C>A)
c.1375C>A (p.Leu459Ile)
c.1501C>A (p.Leu501Ile)
c.1498C>A (p.Leu500Ile)
c.1537C>A (p.Leu513Ile)
c.448-13264C>A (n.448-13264C>A)
c.*93+3165C>A (n.*93+3165C>A)
n.2183C>A
c.1510C>A (p.Leu504Ile)
n.2106C>A
22g.29681488C=CA2400686815NF2c.1489C= (p.Leu497=)
c.*1118C= (n.*1118C=)
c.1624C= (p.Leu542=)
c.1042C= (p.Leu348=)
c.*1506C= (n.*1506C=)
c.1643C= (n.1643C=)
c.1375C= (p.Leu459=)
c.1501C= (p.Leu501=)
c.1498C= (p.Leu500=)
c.1537C= (p.Leu513=)
c.448-13264C= (n.448-13264C=)
c.*93+3165C= (n.*93+3165C=)
n.2183C=
c.1510C= (p.Leu504=)
n.2106C=
22g.29681488C>GCA411150102NF2c.1489C>G (p.Leu497Val)
c.*1118C>G (n.*1118C>G)
c.1624C>G (p.Leu542Val)
c.1042C>G (p.Leu348Val)
c.*1506C>G (n.*1506C>G)
c.1643C>G (n.1643C>G)
c.1375C>G (p.Leu459Val)
c.1501C>G (p.Leu501Val)
c.1498C>G (p.Leu500Val)
c.1537C>G (p.Leu513Val)
c.448-13264C>G (n.448-13264C>G)
c.*93+3165C>G (n.*93+3165C>G)
n.2183C>G
c.1510C>G (p.Leu504Val)
n.2106C>G
22g.29681488C>TCA411150103NF2c.1489C>T (p.Leu497Phe)
c.*1118C>T (n.*1118C>T)
c.1624C>T (p.Leu542Phe)
c.1042C>T (p.Leu348Phe)
c.*1506C>T (n.*1506C>T)
c.1643C>T (n.1643C>T)
c.1375C>T (p.Leu459Phe)
c.1501C>T (p.Leu501Phe)
c.1498C>T (p.Leu500Phe)
c.1537C>T (p.Leu513Phe)
c.448-13264C>T (n.448-13264C>T)
c.*93+3165C>T (n.*93+3165C>T)
n.2183C>T
c.1510C>T (p.Leu504Phe)
n.2106C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.29681489T>ACA411150104NF2c.1490T>A (p.Leu497His)
c.*1119T>A (n.*1119T>A)
c.1625T>A (p.Leu542His)
c.1043T>A (p.Leu348His)
c.*1507T>A (n.*1507T>A)
c.1644T>A (n.1644T>A)
c.1376T>A (p.Leu459His)
c.1502T>A (p.Leu501His)
c.1499T>A (p.Leu500His)
c.1538T>A (p.Leu513His)
c.448-13263T>A (n.448-13263T>A)
c.*93+3166T>A (n.*93+3166T>A)
n.2184T>A
c.1511T>A (p.Leu504His)
n.2107T>A
ClinVar COSMIC COSMIC
22g.29681489T>CCA411150105NF2c.1490T>C (p.Leu497Pro)
c.*1119T>C (n.*1119T>C)
c.1625T>C (p.Leu542Pro)
c.1043T>C (p.Leu348Pro)
c.*1507T>C (n.*1507T>C)
c.1644T>C (n.1644T>C)
c.1376T>C (p.Leu459Pro)
c.1502T>C (p.Leu501Pro)
c.1499T>C (p.Leu500Pro)
c.1538T>C (p.Leu513Pro)
c.448-13263T>C (n.448-13263T>C)
c.*93+3166T>C (n.*93+3166T>C)
n.2184T>C
c.1511T>C (p.Leu504Pro)
n.2107T>C
22g.29681489T>GCA411150106NF2c.1490T>G (p.Leu497Arg)
c.*1119T>G (n.*1119T>G)
c.1625T>G (p.Leu542Arg)
c.1043T>G (p.Leu348Arg)
c.*1507T>G (n.*1507T>G)
c.1644T>G (n.1644T>G)
c.1376T>G (p.Leu459Arg)
c.1502T>G (p.Leu501Arg)
c.1499T>G (p.Leu500Arg)
c.1538T>G (p.Leu513Arg)
c.448-13263T>G (n.448-13263T>G)
c.*93+3166T>G (n.*93+3166T>G)
n.2184T>G
c.1511T>G (p.Leu504Arg)
n.2107T>G
22g.29681490C>ACA514190397NF2c.1491C>A (p.Leu497=)
c.*1120C>A (n.*1120C>A)
c.1626C>A (p.Leu542=)
c.1044C>A (p.Leu348=)
c.*1508C>A (n.*1508C>A)
c.1645C>A (n.1645C>A)
c.1377C>A (p.Leu459=)
c.1503C>A (p.Leu501=)
c.1500C>A (p.Leu500=)
c.1539C>A (p.Leu513=)
c.448-13262C>A (n.448-13262C>A)
c.*93+3167C>A (n.*93+3167C>A)
n.2185C>A
c.1512C>A (p.Leu504=)
n.2108C>A
dbSNP
22g.29681490C>GCA514190395NF2c.1491C>G (p.Leu497=)
c.*1120C>G (n.*1120C>G)
c.1626C>G (p.Leu542=)
c.1044C>G (p.Leu348=)
c.*1508C>G (n.*1508C>G)
c.1645C>G (n.1645C>G)
c.1377C>G (p.Leu459=)
c.1503C>G (p.Leu501=)
c.1500C>G (p.Leu500=)
c.1539C>G (p.Leu513=)
c.448-13262C>G (n.448-13262C>G)
c.*93+3167C>G (n.*93+3167C>G)
n.2185C>G
c.1512C>G (p.Leu504=)
n.2108C>G
22g.29681490C>TCA514190396NF2c.1491C>T (p.Leu497=)
c.*1120C>T (n.*1120C>T)
c.1626C>T (p.Leu542=)
c.1044C>T (p.Leu348=)
c.*1508C>T (n.*1508C>T)
c.1645C>T (n.1645C>T)
c.1377C>T (p.Leu459=)
c.1503C>T (p.Leu501=)
c.1500C>T (p.Leu500=)
c.1539C>T (p.Leu513=)
c.448-13262C>T (n.448-13262C>T)
c.*93+3167C>T (n.*93+3167C>T)
n.2185C>T
c.1512C>T (p.Leu504=)
n.2108C>T
ClinVar dbSNP
22g.29681491A=CA2400686816NF2c.1492A= (p.Lys498=)
c.*1121A= (n.*1121A=)
c.1627A= (p.Lys543=)
c.1045A= (p.Lys349=)
c.*1509A= (n.*1509A=)
c.1646A= (n.1646A=)
c.1378A= (p.Lys460=)
c.1504A= (p.Lys502=)
c.1501A= (p.Lys501=)
c.1540A= (p.Lys514=)
c.448-13261A= (n.448-13261A=)
c.*93+3168A= (n.*93+3168A=)
n.2186A=
c.1513A= (p.Lys505=)
n.2109A=
22g.29681491A>CCA411150107NF2c.1492A>C (p.Lys498Gln)
c.*1121A>C (n.*1121A>C)
c.1627A>C (p.Lys543Gln)
c.1045A>C (p.Lys349Gln)
c.*1509A>C (n.*1509A>C)
c.1646A>C (n.1646A>C)
c.1378A>C (p.Lys460Gln)
c.1504A>C (p.Lys502Gln)
c.1501A>C (p.Lys501Gln)
c.1540A>C (p.Lys514Gln)
c.448-13261A>C (n.448-13261A>C)
c.*93+3168A>C (n.*93+3168A>C)
n.2186A>C
c.1513A>C (p.Lys505Gln)
n.2109A>C
22g.29681491A>GCA411150108NF2c.1492A>G (p.Lys498Glu)
c.*1121A>G (n.*1121A>G)
c.1627A>G (p.Lys543Glu)
c.1045A>G (p.Lys349Glu)
c.*1509A>G (n.*1509A>G)
c.1646A>G (n.1646A>G)
c.1378A>G (p.Lys460Glu)
c.1504A>G (p.Lys502Glu)
c.1501A>G (p.Lys501Glu)
c.1540A>G (p.Lys514Glu)
c.448-13261A>G (n.448-13261A>G)
c.*93+3168A>G (n.*93+3168A>G)
n.2186A>G
c.1513A>G (p.Lys505Glu)
n.2109A>G
COSMIC COSMIC
22g.29681491A>TCA10583924NF2c.1492A>T (p.Lys498Ter)
c.*1121A>T (n.*1121A>T)
c.1627A>T (p.Lys543Ter)
c.1045A>T (p.Lys349Ter)
c.*1509A>T (n.*1509A>T)
c.1646A>T (n.1646A>T)
c.1378A>T (p.Lys460Ter)
c.1504A>T (p.Lys502Ter)
c.1501A>T (p.Lys501Ter)
c.1540A>T (p.Lys514Ter)
c.448-13261A>T (n.448-13261A>T)
c.*93+3168A>T (n.*93+3168A>T)
n.2186A>T
c.1513A>T (p.Lys505Ter)
n.2109A>T
ClinVar dbSNP
22g.29681491_29681492delCA2573157893NF2c.1492_1493del (p.Lys498AspfsTer21)
c.*1121_*1122del (n.*1121_*1122del)
c.1627_1628del (p.Lys543AspfsTer21)
c.1045_1046del (p.Lys349AspfsTer21)
c.*1509_*1510del (n.*1509_*1510del)
c.1646_1647del (n.1646_1647del)
c.1378_1379del (p.Lys460AspfsTer21)
c.1504_1505del (p.Lys502AspfsTer21)
c.1501_1502del (p.Lys501AspfsTer21)
c.1540_1541del (p.Lys514AspfsTer21)
c.448-13261_448-13260del (n.448-13261_448-13260del)
c.*93+3168_*93+3169del (n.*93+3168_*93+3169del)
n.2186_2187del
c.1513_1514del (p.Lys505AspfsTer21)
n.2109_2110del
ClinVar dbSNP
22g.29681492A=CA2400686817NF2c.1493A= (p.Lys498=)
c.*1122A= (n.*1122A=)
c.1628A= (p.Lys543=)
c.1046A= (p.Lys349=)
c.*1510A= (n.*1510A=)
c.1647A= (n.1647A=)
c.1379A= (p.Lys460=)
c.1505A= (p.Lys502=)
c.1502A= (p.Lys501=)
c.1541A= (p.Lys514=)
c.448-13260A= (n.448-13260A=)
c.*93+3169A= (n.*93+3169A=)
n.2187A=
c.1514A= (p.Lys505=)
n.2110A=
22g.29681492A>CCA411150109NF2c.1493A>C (p.Lys498Thr)
c.*1122A>C (n.*1122A>C)
c.1628A>C (p.Lys543Thr)
c.1046A>C (p.Lys349Thr)
c.*1510A>C (n.*1510A>C)
c.1647A>C (n.1647A>C)
c.1379A>C (p.Lys460Thr)
c.1505A>C (p.Lys502Thr)
c.1502A>C (p.Lys501Thr)
c.1541A>C (p.Lys514Thr)
c.448-13260A>C (n.448-13260A>C)
c.*93+3169A>C (n.*93+3169A>C)
n.2187A>C
c.1514A>C (p.Lys505Thr)
n.2110A>C
dbSNP
22g.29681492A>GCA411150111NF2c.1493A>G (p.Lys498Arg)
c.*1122A>G (n.*1122A>G)
c.1628A>G (p.Lys543Arg)
c.1046A>G (p.Lys349Arg)
c.*1510A>G (n.*1510A>G)
c.1647A>G (n.1647A>G)
c.1379A>G (p.Lys460Arg)
c.1505A>G (p.Lys502Arg)
c.1502A>G (p.Lys501Arg)
c.1541A>G (p.Lys514Arg)
c.448-13260A>G (n.448-13260A>G)
c.*93+3169A>G (n.*93+3169A>G)
n.2187A>G
c.1514A>G (p.Lys505Arg)
n.2110A>G
22g.29681492A>TCA411150110NF2c.1493A>T (p.Lys498Met)
c.*1122A>T (n.*1122A>T)
c.1628A>T (p.Lys543Met)
c.1046A>T (p.Lys349Met)
c.*1510A>T (n.*1510A>T)
c.1647A>T (n.1647A>T)
c.1379A>T (p.Lys460Met)
c.1505A>T (p.Lys502Met)
c.1502A>T (p.Lys501Met)
c.1541A>T (p.Lys514Met)
c.448-13260A>T (n.448-13260A>T)
c.*93+3169A>T (n.*93+3169A>T)
n.2187A>T
c.1514A>T (p.Lys505Met)
n.2110A>T
22g.29681493G>ACA514190400NF2c.1494G>A (p.Lys498=)
c.*1123G>A (n.*1123G>A)
c.1629G>A (p.Lys543=)
c.1047G>A (p.Lys349=)
c.*1511G>A (n.*1511G>A)
c.1648G>A (n.1648G>A)
c.1380G>A (p.Lys460=)
c.1506G>A (p.Lys502=)
c.1503G>A (p.Lys501=)
c.1542G>A (p.Lys514=)
c.448-13259G>A (n.448-13259G>A)
c.*93+3170G>A (n.*93+3170G>A)
n.2188G>A
c.1515G>A (p.Lys505=)
n.2111G>A
gnomAD v4
22g.29681493G>CCA411150112NF2c.1494G>C (p.Lys498Asn)
c.*1123G>C (n.*1123G>C)
c.1629G>C (p.Lys543Asn)
c.1047G>C (p.Lys349Asn)
c.*1511G>C (n.*1511G>C)
c.1648G>C (n.1648G>C)
c.1380G>C (p.Lys460Asn)
c.1506G>C (p.Lys502Asn)
c.1503G>C (p.Lys501Asn)
c.1542G>C (p.Lys514Asn)
c.448-13259G>C (n.448-13259G>C)
c.*93+3170G>C (n.*93+3170G>C)
n.2188G>C
c.1515G>C (p.Lys505Asn)
n.2111G>C
22g.29681493G>TCA411150113NF2c.1494G>T (p.Lys498Asn)
c.*1123G>T (n.*1123G>T)
c.1629G>T (p.Lys543Asn)
c.1047G>T (p.Lys349Asn)
c.*1511G>T (n.*1511G>T)
c.1648G>T (n.1648G>T)
c.1380G>T (p.Lys460Asn)
c.1506G>T (p.Lys502Asn)
c.1503G>T (p.Lys501Asn)
c.1542G>T (p.Lys514Asn)
c.448-13259G>T (n.448-13259G>T)
c.*93+3170G>T (n.*93+3170G>T)
n.2188G>T
c.1515G>T (p.Lys505Asn)
n.2111G>T
22g.29681494A=CA2400686818NF2c.1495A= (p.Thr499=)
c.*1124A= (n.*1124A=)
c.1630A= (p.Thr544=)
c.1048A= (p.Thr350=)
c.*1512A= (n.*1512A=)
c.1649A= (n.1649A=)
c.1381A= (p.Thr461=)
c.1507A= (p.Thr503=)
c.1504A= (p.Thr502=)
c.1543A= (p.Thr515=)
c.448-13258A= (n.448-13258A=)
c.*93+3171A= (n.*93+3171A=)
n.2189A=
c.1516A= (p.Thr506=)
n.2112A=
22g.29681494A>CCA411150114NF2c.1495A>C (p.Thr499Pro)
c.*1124A>C (n.*1124A>C)
c.1630A>C (p.Thr544Pro)
c.1048A>C (p.Thr350Pro)
c.*1512A>C (n.*1512A>C)
c.1649A>C (n.1649A>C)
c.1381A>C (p.Thr461Pro)
c.1507A>C (p.Thr503Pro)
c.1504A>C (p.Thr502Pro)
c.1543A>C (p.Thr515Pro)
c.448-13258A>C (n.448-13258A>C)
c.*93+3171A>C (n.*93+3171A>C)
n.2189A>C
c.1516A>C (p.Thr506Pro)
n.2112A>C
ClinVar
22g.29681494A>GCA032408NF2c.1495A>G (p.Thr499Ala)
c.*1124A>G (n.*1124A>G)
c.1630A>G (p.Thr544Ala)
c.1048A>G (p.Thr350Ala)
c.*1512A>G (n.*1512A>G)
c.1649A>G (n.1649A>G)
c.1381A>G (p.Thr461Ala)
c.1507A>G (p.Thr503Ala)
c.1504A>G (p.Thr502Ala)
c.1543A>G (p.Thr515Ala)
c.448-13258A>G (n.448-13258A>G)
c.*93+3171A>G (n.*93+3171A>G)
n.2189A>G
c.1516A>G (p.Thr506Ala)
n.2112A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.29681494A>TCA411150115NF2c.1495A>T (p.Thr499Ser)
c.*1124A>T (n.*1124A>T)
c.1630A>T (p.Thr544Ser)
c.1048A>T (p.Thr350Ser)
c.*1512A>T (n.*1512A>T)
c.1649A>T (n.1649A>T)
c.1381A>T (p.Thr461Ser)
c.1507A>T (p.Thr503Ser)
c.1504A>T (p.Thr502Ser)
c.1543A>T (p.Thr515Ser)
c.448-13258A>T (n.448-13258A>T)
c.*93+3171A>T (n.*93+3171A>T)
n.2189A>T
c.1516A>T (p.Thr506Ser)
n.2112A>T
dbSNP gnomAD v4
22g.29681495C>ACA411150116NF2c.1496C>A (p.Thr499Lys)
c.*1125C>A (n.*1125C>A)
c.1631C>A (p.Thr544Lys)
c.1049C>A (p.Thr350Lys)
c.*1513C>A (n.*1513C>A)
c.1650C>A (n.1650C>A)
c.1382C>A (p.Thr461Lys)
c.1508C>A (p.Thr503Lys)
c.1505C>A (p.Thr502Lys)
c.1544C>A (p.Thr515Lys)
c.448-13257C>A (n.448-13257C>A)
c.*93+3172C>A (n.*93+3172C>A)
n.2190C>A
c.1517C>A (p.Thr506Lys)
n.2113C>A
dbSNP
22g.29681495C=CA2400686819NF2c.1496C= (p.Thr499=)
c.*1125C= (n.*1125C=)
c.1631C= (p.Thr544=)
c.1049C= (p.Thr350=)
c.*1513C= (n.*1513C=)
c.1650C= (n.1650C=)
c.1382C= (p.Thr461=)
c.1508C= (p.Thr503=)
c.1505C= (p.Thr502=)
c.1544C= (p.Thr515=)
c.448-13257C= (n.448-13257C=)
c.*93+3172C= (n.*93+3172C=)
n.2190C=
c.1517C= (p.Thr506=)
n.2113C=
22g.29681495C>GCA411150117NF2c.1496C>G (p.Thr499Arg)
c.*1125C>G (n.*1125C>G)
c.1631C>G (p.Thr544Arg)
c.1049C>G (p.Thr350Arg)
c.*1513C>G (n.*1513C>G)
c.1650C>G (n.1650C>G)
c.1382C>G (p.Thr461Arg)
c.1508C>G (p.Thr503Arg)
c.1505C>G (p.Thr502Arg)
c.1544C>G (p.Thr515Arg)
c.448-13257C>G (n.448-13257C>G)
c.*93+3172C>G (n.*93+3172C>G)
n.2190C>G
c.1517C>G (p.Thr506Arg)
n.2113C>G
22g.29681495C>TCA323120931NF2c.1496C>T (p.Thr499Ile)
c.*1125C>T (n.*1125C>T)
c.1631C>T (p.Thr544Ile)
c.1049C>T (p.Thr350Ile)
c.*1513C>T (n.*1513C>T)
c.1650C>T (n.1650C>T)
c.1382C>T (p.Thr461Ile)
c.1508C>T (p.Thr503Ile)
c.1505C>T (p.Thr502Ile)
c.1544C>T (p.Thr515Ile)
c.448-13257C>T (n.448-13257C>T)
c.*93+3172C>T (n.*93+3172C>T)
n.2190C>T
c.1517C>T (p.Thr506Ile)
n.2113C>T
dbSNP gnomAD v4
22g.29681496A=CA2400686820NF2c.1497A= (p.Thr499=)
c.*1126A= (n.*1126A=)
c.1632A= (p.Thr544=)
c.1050A= (p.Thr350=)
c.*1514A= (n.*1514A=)
c.1651A= (n.1651A=)
c.1383A= (p.Thr461=)
c.1509A= (p.Thr503=)
c.1506A= (p.Thr502=)
c.1545A= (p.Thr515=)
c.448-13256A= (n.448-13256A=)
c.*93+3173A= (n.*93+3173A=)
n.2191A=
c.1518A= (p.Thr506=)
n.2114A=
22g.29681496A>CCA514190407NF2c.1497A>C (p.Thr499=)
c.*1126A>C (n.*1126A>C)
c.1632A>C (p.Thr544=)
c.1050A>C (p.Thr350=)
c.*1514A>C (n.*1514A>C)
c.1651A>C (n.1651A>C)
c.1383A>C (p.Thr461=)
c.1509A>C (p.Thr503=)
c.1506A>C (p.Thr502=)
c.1545A>C (p.Thr515=)
c.448-13256A>C (n.448-13256A>C)
c.*93+3173A>C (n.*93+3173A>C)
n.2191A>C
c.1518A>C (p.Thr506=)
n.2114A>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.29681496A>GCA514190405NF2c.1497A>G (p.Thr499=)
c.*1126A>G (n.*1126A>G)
c.1632A>G (p.Thr544=)
c.1050A>G (p.Thr350=)
c.*1514A>G (n.*1514A>G)
c.1651A>G (n.1651A>G)
c.1383A>G (p.Thr461=)
c.1509A>G (p.Thr503=)
c.1506A>G (p.Thr502=)
c.1545A>G (p.Thr515=)
c.448-13256A>G (n.448-13256A>G)
c.*93+3173A>G (n.*93+3173A>G)
n.2191A>G
c.1518A>G (p.Thr506=)
n.2114A>G
ClinVar
22g.29681496A>TCA514190406NF2c.1497A>T (p.Thr499=)
c.*1126A>T (n.*1126A>T)
c.1632A>T (p.Thr544=)
c.1050A>T (p.Thr350=)
c.*1514A>T (n.*1514A>T)
c.1651A>T (n.1651A>T)
c.1383A>T (p.Thr461=)
c.1509A>T (p.Thr503=)
c.1506A>T (p.Thr502=)
c.1545A>T (p.Thr515=)
c.448-13256A>T (n.448-13256A>T)
c.*93+3173A>T (n.*93+3173A>T)
n.2191A>T
c.1518A>T (p.Thr506=)
n.2114A>T
22g.29681497_29681498delCA2695230529NF2c.1498_1499del (p.Glu500AsnfsTer19)
c.*1127_*1128del (n.*1127_*1128del)
c.1633_1634del (p.Glu545AsnfsTer19)
c.1051_1052del (p.Glu351AsnfsTer19)
c.*1515_*1516del (n.*1515_*1516del)
c.1652_1653del (n.1652_1653del)
c.1384_1385del (p.Glu462AsnfsTer19)
c.1510_1511del (p.Glu504AsnfsTer19)
c.1507_1508del (p.Glu503AsnfsTer19)
c.1546_1547del (p.Glu516AsnfsTer19)
c.448-13255_448-13254del (n.448-13255_448-13254del)
c.*93+3174_*93+3175del (n.*93+3174_*93+3175del)
n.2192_2193del
c.1519_1520del (p.Glu507AsnfsTer19)
n.2115_2116del
22g.29681497G>ACA411150118NF2c.1498G>A (p.Glu500Lys)
c.*1127G>A (n.*1127G>A)
c.1633G>A (p.Glu545Lys)
c.1051G>A (p.Glu351Lys)
c.*1515G>A (n.*1515G>A)
c.1652G>A (n.1652G>A)
c.1384G>A (p.Glu462Lys)
c.1510G>A (p.Glu504Lys)
c.1507G>A (p.Glu503Lys)
c.1546G>A (p.Glu516Lys)
c.448-13255G>A (n.448-13255G>A)
c.*93+3174G>A (n.*93+3174G>A)
n.2192G>A
c.1519G>A (p.Glu507Lys)
n.2115G>A
ClinVar
22g.29681497G>CCA032438NF2c.1498G>C (p.Glu500Gln)
c.*1127G>C (n.*1127G>C)
c.1633G>C (p.Glu545Gln)
c.1051G>C (p.Glu351Gln)
c.*1515G>C (n.*1515G>C)
c.1652G>C (n.1652G>C)
c.1384G>C (p.Glu462Gln)
c.1510G>C (p.Glu504Gln)
c.1507G>C (p.Glu503Gln)
c.1546G>C (p.Glu516Gln)
c.448-13255G>C (n.448-13255G>C)
c.*93+3174G>C (n.*93+3174G>C)
n.2192G>C
c.1519G>C (p.Glu507Gln)
n.2115G>C
ClinVar dbSNP ExAC
22g.29681497G=CA2400686821NF2c.1498G= (p.Glu500=)
c.*1127G= (n.*1127G=)
c.1633G= (p.Glu545=)
c.1051G= (p.Glu351=)
c.*1515G= (n.*1515G=)
c.1652G= (n.1652G=)
c.1384G= (p.Glu462=)
c.1510G= (p.Glu504=)
c.1507G= (p.Glu503=)
c.1546G= (p.Glu516=)
c.448-13255G= (n.448-13255G=)
c.*93+3174G= (n.*93+3174G=)
n.2192G=
c.1519G= (p.Glu507=)
n.2115G=
22g.29681497G>TCA411150119NF2c.1498G>T (p.Glu500Ter)
c.*1127G>T (n.*1127G>T)
c.1633G>T (p.Glu545Ter)
c.1051G>T (p.Glu351Ter)
c.*1515G>T (n.*1515G>T)
c.1652G>T (n.1652G>T)
c.1384G>T (p.Glu462Ter)
c.1510G>T (p.Glu504Ter)
c.1507G>T (p.Glu503Ter)
c.1546G>T (p.Glu516Ter)
c.448-13255G>T (n.448-13255G>T)
c.*93+3174G>T (n.*93+3174G>T)
n.2192G>T
c.1519G>T (p.Glu507Ter)
n.2115G>T
COSMIC COSMIC
22g.29681498A>CCA411150120NF2c.1499A>C (p.Glu500Ala)
c.*1128A>C (n.*1128A>C)
c.1634A>C (p.Glu545Ala)
c.1052A>C (p.Glu351Ala)
c.*1516A>C (n.*1516A>C)
c.1653A>C (n.1653A>C)
c.1385A>C (p.Glu462Ala)
c.1511A>C (p.Glu504Ala)
c.1508A>C (p.Glu503Ala)
c.1547A>C (p.Glu516Ala)
c.448-13254A>C (n.448-13254A>C)
c.*93+3175A>C (n.*93+3175A>C)
n.2193A>C
c.1520A>C (p.Glu507Ala)
n.2116A>C
22g.29681498A>GCA411150121NF2c.1499A>G (p.Glu500Gly)
c.*1128A>G (n.*1128A>G)
c.1634A>G (p.Glu545Gly)
c.1052A>G (p.Glu351Gly)
c.*1516A>G (n.*1516A>G)
c.1653A>G (n.1653A>G)
c.1385A>G (p.Glu462Gly)
c.1511A>G (p.Glu504Gly)
c.1508A>G (p.Glu503Gly)
c.1547A>G (p.Glu516Gly)
c.448-13254A>G (n.448-13254A>G)
c.*93+3175A>G (n.*93+3175A>G)
n.2193A>G
c.1520A>G (p.Glu507Gly)
n.2116A>G
22g.29681498A>TCA411150122NF2c.1499A>T (p.Glu500Val)
c.*1128A>T (n.*1128A>T)
c.1634A>T (p.Glu545Val)
c.1052A>T (p.Glu351Val)
c.*1516A>T (n.*1516A>T)
c.1653A>T (n.1653A>T)
c.1385A>T (p.Glu462Val)
c.1511A>T (p.Glu504Val)
c.1508A>T (p.Glu503Val)
c.1547A>T (p.Glu516Val)
c.448-13254A>T (n.448-13254A>T)
c.*93+3175A>T (n.*93+3175A>T)
n.2193A>T
c.1520A>T (p.Glu507Val)
n.2116A>T
22g.29681500delCA514190413NF2c.1501del (p.Ile501SerfsTer4)
c.*1130del (n.*1130del)
c.1636del (p.Ile546SerfsTer4)
c.1054del (p.Ile352SerfsTer4)
c.*1518del (n.*1518del)
c.1655del (n.1655del)
c.1387del (p.Ile463SerfsTer4)
c.1513del (p.Ile505SerfsTer4)
c.1510del (p.Ile504SerfsTer4)
c.1549del (p.Ile517SerfsTer4)
c.448-13252del (n.448-13252del)
c.*93+3177del (n.*93+3177del)
n.2195del
c.1522del (p.Ile508SerfsTer4)
n.2118del
COSMIC
22g.29681499A=CA2400686822NF2c.1500A= (p.Glu500=)
c.*1129A= (n.*1129A=)
c.1635A= (p.Glu545=)
c.1053A= (p.Glu351=)
c.*1517A= (n.*1517A=)
c.1654A= (n.1654A=)
c.1386A= (p.Glu462=)
c.1512A= (p.Glu504=)
c.1509A= (p.Glu503=)
c.1548A= (p.Glu516=)
c.448-13253A= (n.448-13253A=)
c.*93+3176A= (n.*93+3176A=)
n.2194A=
c.1521A= (p.Glu507=)
n.2117A=
22g.29681499A>CCA411150123NF2c.1500A>C (p.Glu500Asp)
c.*1129A>C (n.*1129A>C)
c.1635A>C (p.Glu545Asp)
c.1053A>C (p.Glu351Asp)
c.*1517A>C (n.*1517A>C)
c.1654A>C (n.1654A>C)
c.1386A>C (p.Glu462Asp)
c.1512A>C (p.Glu504Asp)
c.1509A>C (p.Glu503Asp)
c.1548A>C (p.Glu516Asp)
c.448-13253A>C (n.448-13253A>C)
c.*93+3176A>C (n.*93+3176A>C)
n.2194A>C
c.1521A>C (p.Glu507Asp)
n.2117A>C
22g.29681499A>GCA514190421NF2c.1500A>G (p.Glu500=)
c.*1129A>G (n.*1129A>G)
c.1635A>G (p.Glu545=)
c.1053A>G (p.Glu351=)
c.*1517A>G (n.*1517A>G)
c.1654A>G (n.1654A>G)
c.1386A>G (p.Glu462=)
c.1512A>G (p.Glu504=)
c.1509A>G (p.Glu503=)
c.1548A>G (p.Glu516=)
c.448-13253A>G (n.448-13253A>G)
c.*93+3176A>G (n.*93+3176A>G)
n.2194A>G
c.1521A>G (p.Glu507=)
n.2117A>G
22g.29681499A>TCA411150124NF2c.1500A>T (p.Glu500Asp)
c.*1129A>T (n.*1129A>T)
c.1635A>T (p.Glu545Asp)
c.1053A>T (p.Glu351Asp)
c.*1517A>T (n.*1517A>T)
c.1654A>T (n.1654A>T)
c.1386A>T (p.Glu462Asp)
c.1512A>T (p.Glu504Asp)
c.1509A>T (p.Glu503Asp)
c.1548A>T (p.Glu516Asp)
c.448-13253A>T (n.448-13253A>T)
c.*93+3176A>T (n.*93+3176A>T)
n.2194A>T
c.1521A>T (p.Glu507Asp)
n.2117A>T
ClinVar dbSNP gnomAD v4
22g.29681500A>CCA411150125NF2c.1501A>C (p.Ile501Leu)
c.*1130A>C (n.*1130A>C)
c.1636A>C (p.Ile546Leu)
c.1054A>C (p.Ile352Leu)
c.*1518A>C (n.*1518A>C)
c.1655A>C (n.1655A>C)
c.1387A>C (p.Ile463Leu)
c.1513A>C (p.Ile505Leu)
c.1510A>C (p.Ile504Leu)
c.1549A>C (p.Ile517Leu)
c.448-13252A>C (n.448-13252A>C)
c.*93+3177A>C (n.*93+3177A>C)
n.2195A>C
c.1522A>C (p.Ile508Leu)
n.2118A>C
22g.29681500A>GCA411150126NF2c.1501A>G (p.Ile501Val)
c.*1130A>G (n.*1130A>G)
c.1636A>G (p.Ile546Val)
c.1054A>G (p.Ile352Val)
c.*1518A>G (n.*1518A>G)
c.1655A>G (n.1655A>G)
c.1387A>G (p.Ile463Val)
c.1513A>G (p.Ile505Val)
c.1510A>G (p.Ile504Val)
c.1549A>G (p.Ile517Val)
c.448-13252A>G (n.448-13252A>G)
c.*93+3177A>G (n.*93+3177A>G)
n.2195A>G
c.1522A>G (p.Ile508Val)
n.2118A>G
22g.29681500A>TCA411150127NF2c.1501A>T (p.Ile501Phe)
c.*1130A>T (n.*1130A>T)
c.1636A>T (p.Ile546Phe)
c.1054A>T (p.Ile352Phe)
c.*1518A>T (n.*1518A>T)
c.1655A>T (n.1655A>T)
c.1387A>T (p.Ile463Phe)
c.1513A>T (p.Ile505Phe)
c.1510A>T (p.Ile504Phe)
c.1549A>T (p.Ile517Phe)
c.448-13252A>T (n.448-13252A>T)
c.*93+3177A>T (n.*93+3177A>T)
n.2195A>T
c.1522A>T (p.Ile508Phe)
n.2118A>T
gnomAD v4
22g.29681501delCA514190431NF2c.1502del (p.Ile501ThrfsTer4)
c.*1131del (n.*1131del)
c.1637del (p.Ile546ThrfsTer4)
c.1055del (p.Ile352ThrfsTer4)
c.*1519del (n.*1519del)
c.1656del (n.1656del)
c.1388del (p.Ile463ThrfsTer4)
c.1514del (p.Ile505ThrfsTer4)
c.1511del (p.Ile504ThrfsTer4)
c.1550del (p.Ile517ThrfsTer4)
c.448-13251del (n.448-13251del)
c.*93+3178del (n.*93+3178del)
n.2196del
c.1523del (p.Ile508ThrfsTer4)
n.2119del
COSMIC
22g.29681501T>ACA411150130NF2c.1502T>A (p.Ile501Asn)
c.*1131T>A (n.*1131T>A)
c.1637T>A (p.Ile546Asn)
c.1055T>A (p.Ile352Asn)
c.*1519T>A (n.*1519T>A)
c.1656T>A (n.1656T>A)
c.1388T>A (p.Ile463Asn)
c.1514T>A (p.Ile505Asn)
c.1511T>A (p.Ile504Asn)
c.1550T>A (p.Ile517Asn)
c.448-13251T>A (n.448-13251T>A)
c.*93+3178T>A (n.*93+3178T>A)
n.2196T>A
c.1523T>A (p.Ile508Asn)
n.2119T>A
dbSNP
22g.29681501T>CCA411150128NF2c.1502T>C (p.Ile501Thr)
c.*1131T>C (n.*1131T>C)
c.1637T>C (p.Ile546Thr)
c.1055T>C (p.Ile352Thr)
c.*1519T>C (n.*1519T>C)
c.1656T>C (n.1656T>C)
c.1388T>C (p.Ile463Thr)
c.1514T>C (p.Ile505Thr)
c.1511T>C (p.Ile504Thr)
c.1550T>C (p.Ile517Thr)
c.448-13251T>C (n.448-13251T>C)
c.*93+3178T>C (n.*93+3178T>C)
n.2196T>C
c.1523T>C (p.Ile508Thr)
n.2119T>C
22g.29681501T>GCA411150129NF2c.1502T>G (p.Ile501Ser)
c.*1131T>G (n.*1131T>G)
c.1637T>G (p.Ile546Ser)
c.1055T>G (p.Ile352Ser)
c.*1519T>G (n.*1519T>G)
c.1656T>G (n.1656T>G)
c.1388T>G (p.Ile463Ser)
c.1514T>G (p.Ile505Ser)
c.1511T>G (p.Ile504Ser)
c.1550T>G (p.Ile517Ser)
c.448-13251T>G (n.448-13251T>G)
c.*93+3178T>G (n.*93+3178T>G)
n.2196T>G
c.1523T>G (p.Ile508Ser)
n.2119T>G
22g.29681502C>ACA514190439NF2c.1503C>A (p.Ile501=)
c.*1132C>A (n.*1132C>A)
c.1638C>A (p.Ile546=)
c.1056C>A (p.Ile352=)
c.*1520C>A (n.*1520C>A)
c.1657C>A (n.1657C>A)
c.1389C>A (p.Ile463=)
c.1515C>A (p.Ile505=)
c.1512C>A (p.Ile504=)
c.1551C>A (p.Ile517=)
c.448-13250C>A (n.448-13250C>A)
c.*93+3179C>A (n.*93+3179C>A)
n.2197C>A
c.1524C>A (p.Ile508=)
n.2120C>A
22g.29681502C=CA2400686823NF2c.1503C= (p.Ile501=)
c.*1132C= (n.*1132C=)
c.1638C= (p.Ile546=)
c.1056C= (p.Ile352=)
c.*1520C= (n.*1520C=)
c.1657C= (n.1657C=)
c.1389C= (p.Ile463=)
c.1515C= (p.Ile505=)
c.1512C= (p.Ile504=)
c.1551C= (p.Ile517=)
c.448-13250C= (n.448-13250C=)
c.*93+3179C= (n.*93+3179C=)
n.2197C=
c.1524C= (p.Ile508=)
n.2120C=
22g.29681502C>GCA411150131NF2c.1503C>G (p.Ile501Met)
c.*1132C>G (n.*1132C>G)
c.1638C>G (p.Ile546Met)
c.1056C>G (p.Ile352Met)
c.*1520C>G (n.*1520C>G)
c.1657C>G (n.1657C>G)
c.1389C>G (p.Ile463Met)
c.1515C>G (p.Ile505Met)
c.1512C>G (p.Ile504Met)
c.1551C>G (p.Ile517Met)
c.448-13250C>G (n.448-13250C>G)
c.*93+3179C>G (n.*93+3179C>G)
n.2197C>G
c.1524C>G (p.Ile508Met)
n.2120C>G
22g.29681502C>TCA032457NF2c.1503C>T (p.Ile501=)
c.*1132C>T (n.*1132C>T)
c.1638C>T (p.Ile546=)
c.1056C>T (p.Ile352=)
c.*1520C>T (n.*1520C>T)
c.1657C>T (n.1657C>T)
c.1389C>T (p.Ile463=)
c.1515C>T (p.Ile505=)
c.1512C>T (p.Ile504=)
c.1551C>T (p.Ile517=)
c.448-13250C>T (n.448-13250C>T)
c.*93+3179C>T (n.*93+3179C>T)
n.2197C>T
c.1524C>T (p.Ile508=)
n.2120C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22g.29681503G>ACA032474NF2c.1504G>A (p.Glu502Lys)
c.*1133G>A (n.*1133G>A)
c.1639G>A (p.Glu547Lys)
c.1057G>A (p.Glu353Lys)
c.*1521G>A (n.*1521G>A)
c.1658G>A (n.1658G>A)
c.1390G>A (p.Glu464Lys)
c.1516G>A (p.Glu506Lys)
c.1513G>A (p.Glu505Lys)
c.1552G>A (p.Glu518Lys)
c.448-13249G>A (n.448-13249G>A)
c.*93+3180G>A (n.*93+3180G>A)
n.2198G>A
c.1525G>A (p.Glu509Lys)
n.2121G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.29681503G>CCA411150134NF2c.1504G>C (p.Glu502Gln)
c.*1133G>C (n.*1133G>C)
c.1639G>C (p.Glu547Gln)
c.1057G>C (p.Glu353Gln)
c.*1521G>C (n.*1521G>C)
c.1658G>C (n.1658G>C)
c.1390G>C (p.Glu464Gln)
c.1516G>C (p.Glu506Gln)
c.1513G>C (p.Glu505Gln)
c.1552G>C (p.Glu518Gln)
c.448-13249G>C (n.448-13249G>C)
c.*93+3180G>C (n.*93+3180G>C)
n.2198G>C
c.1525G>C (p.Glu509Gln)
n.2121G>C
dbSNP
22g.29681503G=CA2400686824NF2c.1504G= (p.Glu502=)
c.*1133G= (n.*1133G=)
c.1639G= (p.Glu547=)
c.1057G= (p.Glu353=)
c.*1521G= (n.*1521G=)
c.1658G= (n.1658G=)
c.1390G= (p.Glu464=)
c.1516G= (p.Glu506=)
c.1513G= (p.Glu505=)
c.1552G= (p.Glu518=)
c.448-13249G= (n.448-13249G=)
c.*93+3180G= (n.*93+3180G=)
n.2198G=
c.1525G= (p.Glu509=)
n.2121G=
22g.29681503G>TCA411150136NF2c.1504G>T (p.Glu502Ter)
c.*1133G>T (n.*1133G>T)
c.1639G>T (p.Glu547Ter)
c.1057G>T (p.Glu353Ter)
c.*1521G>T (n.*1521G>T)
c.1658G>T (n.1658G>T)
c.1390G>T (p.Glu464Ter)
c.1516G>T (p.Glu506Ter)
c.1513G>T (p.Glu505Ter)
c.1552G>T (p.Glu518Ter)
c.448-13249G>T (n.448-13249G>T)
c.*93+3180G>T (n.*93+3180G>T)
n.2198G>T
c.1525G>T (p.Glu509Ter)
n.2121G>T
22g.29681504delCA2695230530NF2c.1505del (p.Glu502GlyfsTer3)
c.*1134del (n.*1134del)
c.1640del (p.Glu547GlyfsTer3)
c.1058del (p.Glu353GlyfsTer3)
c.*1522del (n.*1522del)
c.1659del (n.1659del)
c.1391del (p.Glu464GlyfsTer3)
c.1517del (p.Glu506GlyfsTer3)
c.1514del (p.Glu505GlyfsTer3)
c.1553del (p.Glu518GlyfsTer3)
c.448-13248del (n.448-13248del)
c.*93+3181del (n.*93+3181del)
n.2199del
c.1526del (p.Glu509GlyfsTer3)
n.2122del
22g.29681504A>CCA411150138NF2c.1505A>C (p.Glu502Ala)
c.*1134A>C (n.*1134A>C)
c.1640A>C (p.Glu547Ala)
c.1058A>C (p.Glu353Ala)
c.*1522A>C (n.*1522A>C)
c.1659A>C (n.1659A>C)
c.1391A>C (p.Glu464Ala)
c.1517A>C (p.Glu506Ala)
c.1514A>C (p.Glu505Ala)
c.1553A>C (p.Glu518Ala)
c.448-13248A>C (n.448-13248A>C)
c.*93+3181A>C (n.*93+3181A>C)
n.2199A>C
c.1526A>C (p.Glu509Ala)
n.2122A>C
22g.29681504A>GCA411150140NF2c.1505A>G (p.Glu502Gly)
c.*1134A>G (n.*1134A>G)
c.1640A>G (p.Glu547Gly)
c.1058A>G (p.Glu353Gly)
c.*1522A>G (n.*1522A>G)
c.1659A>G (n.1659A>G)
c.1391A>G (p.Glu464Gly)
c.1517A>G (p.Glu506Gly)
c.1514A>G (p.Glu505Gly)
c.1553A>G (p.Glu518Gly)
c.448-13248A>G (n.448-13248A>G)
c.*93+3181A>G (n.*93+3181A>G)
n.2199A>G
c.1526A>G (p.Glu509Gly)
n.2122A>G
22g.29681504A>TCA411150142NF2c.1505A>T (p.Glu502Val)
c.*1134A>T (n.*1134A>T)
c.1640A>T (p.Glu547Val)
c.1058A>T (p.Glu353Val)
c.*1522A>T (n.*1522A>T)
c.1659A>T (n.1659A>T)
c.1391A>T (p.Glu464Val)
c.1517A>T (p.Glu506Val)
c.1514A>T (p.Glu505Val)
c.1553A>T (p.Glu518Val)
c.448-13248A>T (n.448-13248A>T)
c.*93+3181A>T (n.*93+3181A>T)
n.2199A>T
c.1526A>T (p.Glu509Val)
n.2122A>T
22g.29681505G>ACA514190459NF2c.1506G>A (p.Glu502=)
c.*1135G>A (n.*1135G>A)
c.1641G>A (p.Glu547=)
c.1059G>A (p.Glu353=)
c.*1523G>A (n.*1523G>A)
c.1660G>A (n.1660G>A)
c.1392G>A (p.Glu464=)
c.1518G>A (p.Glu506=)
c.1515G>A (p.Glu505=)
c.1554G>A (p.Glu518=)
c.448-13247G>A (n.448-13247G>A)
c.*93+3182G>A (n.*93+3182G>A)
n.2200G>A
c.1527G>A (p.Glu509=)
n.2123G>A
22g.29681505G>CCA411150144NF2c.1506G>C (p.Glu502Asp)
c.*1135G>C (n.*1135G>C)
c.1641G>C (p.Glu547Asp)
c.1059G>C (p.Glu353Asp)
c.*1523G>C (n.*1523G>C)
c.1660G>C (n.1660G>C)
c.1392G>C (p.Glu464Asp)
c.1518G>C (p.Glu506Asp)
c.1515G>C (p.Glu505Asp)
c.1554G>C (p.Glu518Asp)
c.448-13247G>C (n.448-13247G>C)
c.*93+3182G>C (n.*93+3182G>C)
n.2200G>C
c.1527G>C (p.Glu509Asp)
n.2123G>C
22g.29681505G>TCA411150146NF2c.1506G>T (p.Glu502Asp)
c.*1135G>T (n.*1135G>T)
c.1641G>T (p.Glu547Asp)
c.1059G>T (p.Glu353Asp)
c.*1523G>T (n.*1523G>T)
c.1660G>T (n.1660G>T)
c.1392G>T (p.Glu464Asp)
c.1518G>T (p.Glu506Asp)
c.1515G>T (p.Glu505Asp)
c.1554G>T (p.Glu518Asp)
c.448-13247G>T (n.448-13247G>T)
c.*93+3182G>T (n.*93+3182G>T)
n.2200G>T
c.1527G>T (p.Glu509Asp)
n.2123G>T
22g.29681506G>ACA411150151NF2c.1507G>A (p.Ala503Thr)
c.*1136G>A (n.*1136G>A)
c.1642G>A (p.Ala548Thr)
c.1060G>A (p.Ala354Thr)
c.*1524G>A (n.*1524G>A)
c.1661G>A (n.1661G>A)
c.1393G>A (p.Ala465Thr)
c.1519G>A (p.Ala507Thr)
c.1516G>A (p.Ala506Thr)
c.1555G>A (p.Ala519Thr)
c.448-13246G>A (n.448-13246G>A)
c.*93+3183G>A (n.*93+3183G>A)
n.2201G>A
c.1528G>A (p.Ala510Thr)
n.2124G>A
ClinVar dbSNP gnomAD v4
22g.29681506G>CCA411150149NF2c.1507G>C (p.Ala503Pro)
c.*1136G>C (n.*1136G>C)
c.1642G>C (p.Ala548Pro)
c.1060G>C (p.Ala354Pro)
c.*1524G>C (n.*1524G>C)
c.1661G>C (n.1661G>C)
c.1393G>C (p.Ala465Pro)
c.1519G>C (p.Ala507Pro)
c.1516G>C (p.Ala506Pro)
c.1555G>C (p.Ala519Pro)
c.448-13246G>C (n.448-13246G>C)
c.*93+3183G>C (n.*93+3183G>C)
n.2201G>C
c.1528G>C (p.Ala510Pro)
n.2124G>C
22g.29681506G>TCA411150148NF2c.1507G>T (p.Ala503Ser)
c.*1136G>T (n.*1136G>T)
c.1642G>T (p.Ala548Ser)
c.1060G>T (p.Ala354Ser)
c.*1524G>T (n.*1524G>T)
c.1661G>T (n.1661G>T)
c.1393G>T (p.Ala465Ser)
c.1519G>T (p.Ala507Ser)
c.1516G>T (p.Ala506Ser)
c.1555G>T (p.Ala519Ser)
c.448-13246G>T (n.448-13246G>T)
c.*93+3183G>T (n.*93+3183G>T)
n.2201G>T
c.1528G>T (p.Ala510Ser)
n.2124G>T
22g.29681507C>ACA411150153NF2c.1508C>A (p.Ala503Asp)
c.*1137C>A (n.*1137C>A)
c.1643C>A (p.Ala548Asp)
c.1061C>A (p.Ala354Asp)
c.*1525C>A (n.*1525C>A)
c.1662C>A (n.1662C>A)
c.1394C>A (p.Ala465Asp)
c.1520C>A (p.Ala507Asp)
c.1517C>A (p.Ala506Asp)
c.1556C>A (p.Ala519Asp)
c.448-13245C>A (n.448-13245C>A)
c.*93+3184C>A (n.*93+3184C>A)
n.2202C>A
c.1529C>A (p.Ala510Asp)
n.2125C>A
gnomAD v4
22g.29681507C>GCA411150155NF2c.1508C>G (p.Ala503Gly)
c.*1137C>G (n.*1137C>G)
c.1643C>G (p.Ala548Gly)
c.1061C>G (p.Ala354Gly)
c.*1525C>G (n.*1525C>G)
c.1662C>G (n.1662C>G)
c.1394C>G (p.Ala465Gly)
c.1520C>G (p.Ala507Gly)
c.1517C>G (p.Ala506Gly)
c.1556C>G (p.Ala519Gly)
c.448-13245C>G (n.448-13245C>G)
c.*93+3184C>G (n.*93+3184C>G)
n.2202C>G
c.1529C>G (p.Ala510Gly)
n.2125C>G
22g.29681507C>TCA411150157NF2c.1508C>T (p.Ala503Val)
c.*1137C>T (n.*1137C>T)
c.1643C>T (p.Ala548Val)
c.1061C>T (p.Ala354Val)
c.*1525C>T (n.*1525C>T)
c.1662C>T (n.1662C>T)
c.1394C>T (p.Ala465Val)
c.1520C>T (p.Ala507Val)
c.1517C>T (p.Ala506Val)
c.1556C>T (p.Ala519Val)
c.448-13245C>T (n.448-13245C>T)
c.*93+3184C>T (n.*93+3184C>T)
n.2202C>T
c.1529C>T (p.Ala510Val)
n.2125C>T
ClinVar
22g.29681508C>ACA514190478NF2c.1509C>A (p.Ala503=)
c.*1138C>A (n.*1138C>A)
c.1644C>A (p.Ala548=)
c.1062C>A (p.Ala354=)
c.*1526C>A (n.*1526C>A)
c.1663C>A (n.1663C>A)
c.1395C>A (p.Ala465=)
c.1521C>A (p.Ala507=)
c.1518C>A (p.Ala506=)
c.1557C>A (p.Ala519=)
c.448-13244C>A (n.448-13244C>A)
c.*93+3185C>A (n.*93+3185C>A)
n.2203C>A
c.1530C>A (p.Ala510=)
n.2126C>A
dbSNP
22g.29681508C>GCA514190475NF2c.1509C>G (p.Ala503=)
c.*1138C>G (n.*1138C>G)
c.1644C>G (p.Ala548=)
c.1062C>G (p.Ala354=)
c.*1526C>G (n.*1526C>G)
c.1663C>G (n.1663C>G)
c.1395C>G (p.Ala465=)
c.1521C>G (p.Ala507=)
c.1518C>G (p.Ala506=)
c.1557C>G (p.Ala519=)
c.448-13244C>G (n.448-13244C>G)
c.*93+3185C>G (n.*93+3185C>G)
n.2203C>G
c.1530C>G (p.Ala510=)
n.2126C>G
22g.29681508C>TCA514190473NF2c.1509C>T (p.Ala503=)
c.*1138C>T (n.*1138C>T)
c.1644C>T (p.Ala548=)
c.1062C>T (p.Ala354=)
c.*1526C>T (n.*1526C>T)
c.1663C>T (n.1663C>T)
c.1395C>T (p.Ala465=)
c.1521C>T (p.Ala507=)
c.1518C>T (p.Ala506=)
c.1557C>T (p.Ala519=)
c.448-13244C>T (n.448-13244C>T)
c.*93+3185C>T (n.*93+3185C>T)
n.2203C>T
c.1530C>T (p.Ala510=)
n.2126C>T
ClinVar dbSNP gnomAD v4
22g.29681509T>ACA411150159NF2c.1510T>A (p.Leu504Met)
c.*1139T>A (n.*1139T>A)
c.1645T>A (p.Leu549Met)
c.1063T>A (p.Leu355Met)
c.*1527T>A (n.*1527T>A)
c.1664T>A (n.1664T>A)
c.1396T>A (p.Leu466Met)
c.1522T>A (p.Leu508Met)
c.1519T>A (p.Leu507Met)
c.1558T>A (p.Leu520Met)
c.448-13243T>A (n.448-13243T>A)
c.*93+3186T>A (n.*93+3186T>A)
n.2204T>A
c.1531T>A (p.Leu511Met)
n.2127T>A
22g.29681509T>CCA514190481NF2c.1510T>C (p.Leu504=)
c.*1139T>C (n.*1139T>C)
c.1645T>C (p.Leu549=)
c.1063T>C (p.Leu355=)
c.*1527T>C (n.*1527T>C)
c.1664T>C (n.1664T>C)
c.1396T>C (p.Leu466=)
c.1522T>C (p.Leu508=)
c.1519T>C (p.Leu507=)
c.1558T>C (p.Leu520=)
c.448-13243T>C (n.448-13243T>C)
c.*93+3186T>C (n.*93+3186T>C)
n.2204T>C
c.1531T>C (p.Leu511=)
n.2127T>C
22g.29681509T>GCA411150161NF2c.1510T>G (p.Leu504Val)
c.*1139T>G (n.*1139T>G)
c.1645T>G (p.Leu549Val)
c.1063T>G (p.Leu355Val)
c.*1527T>G (n.*1527T>G)
c.1664T>G (n.1664T>G)
c.1396T>G (p.Leu466Val)
c.1522T>G (p.Leu508Val)
c.1519T>G (p.Leu507Val)
c.1558T>G (p.Leu520Val)
c.448-13243T>G (n.448-13243T>G)
c.*93+3186T>G (n.*93+3186T>G)
n.2204T>G
c.1531T>G (p.Leu511Val)
n.2127T>G
22g.29681510delCA2695230531NF2c.1511del (p.Leu504Ter)
c.*1140del (n.*1140del)
c.1646del (p.Leu549Ter)
c.1064del (p.Leu355Ter)
c.*1528del (n.*1528del)
c.1665del (n.1665del)
c.1397del (p.Leu466Ter)
c.1523del (p.Leu508Ter)
c.1520del (p.Leu507Ter)
c.1559del (p.Leu520Ter)
c.448-13242del (n.448-13242del)
c.*93+3187del (n.*93+3187del)
n.2205del
c.1532del (p.Leu511Ter)
n.2128del
22g.29681510T>ACA411150163NF2c.1511T>A (p.Leu504Ter)
c.*1140T>A (n.*1140T>A)
c.1646T>A (p.Leu549Ter)
c.1064T>A (p.Leu355Ter)
c.*1528T>A (n.*1528T>A)
c.1665T>A (n.1665T>A)
c.1397T>A (p.Leu466Ter)
c.1523T>A (p.Leu508Ter)
c.1520T>A (p.Leu507Ter)
c.1559T>A (p.Leu520Ter)
c.448-13242T>A (n.448-13242T>A)
c.*93+3187T>A (n.*93+3187T>A)
n.2205T>A
c.1532T>A (p.Leu511Ter)
n.2128T>A
ClinVar dbSNP
22g.29681510T>CCA411150165NF2c.1511T>C (p.Leu504Ser)
c.*1140T>C (n.*1140T>C)
c.1646T>C (p.Leu549Ser)
c.1064T>C (p.Leu355Ser)
c.*1528T>C (n.*1528T>C)
c.1665T>C (n.1665T>C)
c.1397T>C (p.Leu466Ser)
c.1523T>C (p.Leu508Ser)
c.1520T>C (p.Leu507Ser)
c.1559T>C (p.Leu520Ser)
c.448-13242T>C (n.448-13242T>C)
c.*93+3187T>C (n.*93+3187T>C)
n.2205T>C
c.1532T>C (p.Leu511Ser)
n.2128T>C
22g.29681510T>GCA411150167NF2c.1511T>G (p.Leu504Trp)
c.*1140T>G (n.*1140T>G)
c.1646T>G (p.Leu549Trp)
c.1064T>G (p.Leu355Trp)
c.*1528T>G (n.*1528T>G)
c.1665T>G (n.1665T>G)
c.1397T>G (p.Leu466Trp)
c.1523T>G (p.Leu508Trp)
c.1520T>G (p.Leu507Trp)
c.1559T>G (p.Leu520Trp)
c.448-13242T>G (n.448-13242T>G)
c.*93+3187T>G (n.*93+3187T>G)
n.2205T>G
c.1532T>G (p.Leu511Trp)
n.2128T>G
22g.29681510T=CA2400686825NF2c.1511T= (p.Leu504=)
c.*1140T= (n.*1140T=)
c.1646T= (p.Leu549=)
c.1064T= (p.Leu355=)
c.*1528T= (n.*1528T=)
c.1665T= (n.1665T=)
c.1397T= (p.Leu466=)
c.1523T= (p.Leu508=)
c.1520T= (p.Leu507=)
c.1559T= (p.Leu520=)
c.448-13242T= (n.448-13242T=)
c.*93+3187T= (n.*93+3187T=)
n.2205T=
c.1532T= (p.Leu511=)
n.2128T=
22g.29681511G>ACA514190491NF2c.1512G>A (p.Leu504=)
c.*1141G>A (n.*1141G>A)
c.1647G>A (p.Leu549=)
c.1065G>A (p.Leu355=)
c.*1529G>A (n.*1529G>A)
c.1666G>A (n.1666G>A)
c.1398G>A (p.Leu466=)
c.1524G>A (p.Leu508=)
c.1521G>A (p.Leu507=)
c.1560G>A (p.Leu520=)
c.448-13241G>A (n.448-13241G>A)
c.*93+3188G>A (n.*93+3188G>A)
n.2206G>A
c.1533G>A (p.Leu511=)
n.2129G>A
22g.29681511G>CCA411150169NF2c.1512G>C (p.Leu504Phe)
c.*1141G>C (n.*1141G>C)
c.1647G>C (p.Leu549Phe)
c.1065G>C (p.Leu355Phe)
c.*1529G>C (n.*1529G>C)
c.1666G>C (n.1666G>C)
c.1398G>C (p.Leu466Phe)
c.1524G>C (p.Leu508Phe)
c.1521G>C (p.Leu507Phe)
c.1560G>C (p.Leu520Phe)
c.448-13241G>C (n.448-13241G>C)
c.*93+3188G>C (n.*93+3188G>C)
n.2206G>C
c.1533G>C (p.Leu511Phe)
n.2129G>C
22g.29681511G>TCA411150171NF2c.1512G>T (p.Leu504Phe)
c.*1141G>T (n.*1141G>T)
c.1647G>T (p.Leu549Phe)
c.1065G>T (p.Leu355Phe)
c.*1529G>T (n.*1529G>T)
c.1666G>T (n.1666G>T)
c.1398G>T (p.Leu466Phe)
c.1524G>T (p.Leu508Phe)
c.1521G>T (p.Leu507Phe)
c.1560G>T (p.Leu520Phe)
c.448-13241G>T (n.448-13241G>T)
c.*93+3188G>T (n.*93+3188G>T)
n.2206G>T
c.1533G>T (p.Leu511Phe)
n.2129G>T
22g.29681512_29681533dupCA2656032904NF2c.1513_1534dup (p.Ala512GlufsTer15)
c.*1142_*1163dup (n.*1142_*1163dup)
c.1648_1669dup (p.Ala557GlufsTer15)
c.1066_1087dup (p.Ala363GlufsTer15)
c.*1530_*1551dup (n.*1530_*1551dup)
c.1667_1688dup (n.1667_1688dup)
c.1399_1420dup (p.Ala474GlufsTer15)
c.1525_1546dup (p.Ala516GlufsTer15)
c.1522_1543dup (p.Ala515GlufsTer15)
c.1561_1582dup (p.Ala528GlufsTer15)
c.448-13240_448-13219dup (n.448-13240_448-13219dup)
c.*93+3189_*93+3210dup (n.*93+3189_*93+3210dup)
n.2207_2228dup
c.1534_1555dup (p.Ala519GlufsTer15)
n.2130_2151dup
gnomAD v4
22g.29681512A>CCA411150173NF2c.1513A>C (p.Lys505Gln)
c.*1142A>C (n.*1142A>C)
c.1648A>C (p.Lys550Gln)
c.1066A>C (p.Lys356Gln)
c.*1530A>C (n.*1530A>C)
c.1667A>C (n.1667A>C)
c.1399A>C (p.Lys467Gln)
c.1525A>C (p.Lys509Gln)
c.1522A>C (p.Lys508Gln)
c.1561A>C (p.Lys521Gln)
c.448-13240A>C (n.448-13240A>C)
c.*93+3189A>C (n.*93+3189A>C)
n.2207A>C
c.1534A>C (p.Lys512Gln)
n.2130A>C
22g.29681512A>GCA411150175NF2c.1513A>G (p.Lys505Glu)
c.*1142A>G (n.*1142A>G)
c.1648A>G (p.Lys550Glu)
c.1066A>G (p.Lys356Glu)
c.*1530A>G (n.*1530A>G)
c.1667A>G (n.1667A>G)
c.1399A>G (p.Lys467Glu)
c.1525A>G (p.Lys509Glu)
c.1522A>G (p.Lys508Glu)
c.1561A>G (p.Lys521Glu)
c.448-13240A>G (n.448-13240A>G)
c.*93+3189A>G (n.*93+3189A>G)
n.2207A>G
c.1534A>G (p.Lys512Glu)
n.2130A>G
22g.29681512A>TCA411150177NF2c.1513A>T (p.Lys505Ter)
c.*1142A>T (n.*1142A>T)
c.1648A>T (p.Lys550Ter)
c.1066A>T (p.Lys356Ter)
c.*1530A>T (n.*1530A>T)
c.1667A>T (n.1667A>T)
c.1399A>T (p.Lys467Ter)
c.1525A>T (p.Lys509Ter)
c.1522A>T (p.Lys508Ter)
c.1561A>T (p.Lys521Ter)
c.448-13240A>T (n.448-13240A>T)
c.*93+3189A>T (n.*93+3189A>T)
n.2207A>T
c.1534A>T (p.Lys512Ter)
n.2130A>T
22g.29681513A>CCA411150179NF2c.1514A>C (p.Lys505Thr)
c.*1143A>C (n.*1143A>C)
c.1649A>C (p.Lys550Thr)
c.1067A>C (p.Lys356Thr)
c.*1531A>C (n.*1531A>C)
c.1668A>C (n.1668A>C)
c.1400A>C (p.Lys467Thr)
c.1526A>C (p.Lys509Thr)
c.1523A>C (p.Lys508Thr)
c.1562A>C (p.Lys521Thr)
c.448-13239A>C (n.448-13239A>C)
c.*93+3190A>C (n.*93+3190A>C)
n.2208A>C
c.1535A>C (p.Lys512Thr)
n.2131A>C
22g.29681513A>GCA411150183NF2c.1514A>G (p.Lys505Arg)
c.*1143A>G (n.*1143A>G)
c.1649A>G (p.Lys550Arg)
c.1067A>G (p.Lys356Arg)
c.*1531A>G (n.*1531A>G)
c.1668A>G (n.1668A>G)
c.1400A>G (p.Lys467Arg)
c.1526A>G (p.Lys509Arg)
c.1523A>G (p.Lys508Arg)
c.1562A>G (p.Lys521Arg)
c.448-13239A>G (n.448-13239A>G)
c.*93+3190A>G (n.*93+3190A>G)
n.2208A>G
c.1535A>G (p.Lys512Arg)
n.2131A>G
22g.29681513A>TCA411150181NF2c.1514A>T (p.Lys505Ile)
c.*1143A>T (n.*1143A>T)
c.1649A>T (p.Lys550Ile)
c.1067A>T (p.Lys356Ile)
c.*1531A>T (n.*1531A>T)
c.1668A>T (n.1668A>T)
c.1400A>T (p.Lys467Ile)
c.1526A>T (p.Lys509Ile)
c.1523A>T (p.Lys508Ile)
c.1562A>T (p.Lys521Ile)
c.448-13239A>T (n.448-13239A>T)
c.*93+3190A>T (n.*93+3190A>T)
n.2208A>T
c.1535A>T (p.Lys512Ile)
n.2131A>T
22g.29681514A>CCA411150185NF2c.1515A>C (p.Lys505Asn)
c.*1144A>C (n.*1144A>C)
c.1650A>C (p.Lys550Asn)
c.1068A>C (p.Lys356Asn)
c.*1532A>C (n.*1532A>C)
c.1669A>C (n.1669A>C)
c.1401A>C (p.Lys467Asn)
c.1527A>C (p.Lys509Asn)
c.1524A>C (p.Lys508Asn)
c.1563A>C (p.Lys521Asn)
c.448-13238A>C (n.448-13238A>C)
c.*93+3191A>C (n.*93+3191A>C)
n.2209A>C
c.1536A>C (p.Lys512Asn)
n.2132A>C
22g.29681514A>GCA514190508NF2c.1515A>G (p.Lys505=)
c.*1144A>G (n.*1144A>G)
c.1650A>G (p.Lys550=)
c.1068A>G (p.Lys356=)
c.*1532A>G (n.*1532A>G)
c.1669A>G (n.1669A>G)
c.1401A>G (p.Lys467=)
c.1527A>G (p.Lys509=)
c.1524A>G (p.Lys508=)
c.1563A>G (p.Lys521=)
c.448-13238A>G (n.448-13238A>G)
c.*93+3191A>G (n.*93+3191A>G)
n.2209A>G
c.1536A>G (p.Lys512=)
n.2132A>G
gnomAD v4
22g.29681514A>TCA411150187NF2c.1515A>T (p.Lys505Asn)
c.*1144A>T (n.*1144A>T)
c.1650A>T (p.Lys550Asn)
c.1068A>T (p.Lys356Asn)
c.*1532A>T (n.*1532A>T)
c.1669A>T (n.1669A>T)
c.1401A>T (p.Lys467Asn)
c.1527A>T (p.Lys509Asn)
c.1524A>T (p.Lys508Asn)
c.1563A>T (p.Lys521Asn)
c.448-13238A>T (n.448-13238A>T)
c.*93+3191A>T (n.*93+3191A>T)
n.2209A>T
c.1536A>T (p.Lys512Asn)
n.2132A>T
ClinVar
22g.29681515C>ACA411150189NF2c.1516C>A (p.Leu506Met)
c.*1145C>A (n.*1145C>A)
c.1651C>A (p.Leu551Met)
c.1069C>A (p.Leu357Met)
c.*1533C>A (n.*1533C>A)
c.1670C>A (n.1670C>A)
c.1402C>A (p.Leu468Met)
c.1528C>A (p.Leu510Met)
c.1525C>A (p.Leu509Met)
c.1564C>A (p.Leu522Met)
c.448-13237C>A (n.448-13237C>A)
c.*93+3192C>A (n.*93+3192C>A)
n.2210C>A
c.1537C>A (p.Leu513Met)
n.2133C>A
22g.29681515C>GCA411150191NF2c.1516C>G (p.Leu506Val)
c.*1145C>G (n.*1145C>G)
c.1651C>G (p.Leu551Val)
c.1069C>G (p.Leu357Val)
c.*1533C>G (n.*1533C>G)
c.1670C>G (n.1670C>G)
c.1402C>G (p.Leu468Val)
c.1528C>G (p.Leu510Val)
c.1525C>G (p.Leu509Val)
c.1564C>G (p.Leu522Val)
c.448-13237C>G (n.448-13237C>G)
c.*93+3192C>G (n.*93+3192C>G)
n.2210C>G
c.1537C>G (p.Leu513Val)
n.2133C>G
gnomAD v4
22g.29681515C>TCA514190512NF2c.1516C>T (p.Leu506=)
c.*1145C>T (n.*1145C>T)
c.1651C>T (p.Leu551=)
c.1069C>T (p.Leu357=)
c.*1533C>T (n.*1533C>T)
c.1670C>T (n.1670C>T)
c.1402C>T (p.Leu468=)
c.1528C>T (p.Leu510=)
c.1525C>T (p.Leu509=)
c.1564C>T (p.Leu522=)
c.448-13237C>T (n.448-13237C>T)
c.*93+3192C>T (n.*93+3192C>T)
n.2210C>T
c.1537C>T (p.Leu513=)
n.2133C>T
22g.29681516T>ACA411150193NF2c.1517T>A (p.Leu506Gln)
c.*1146T>A (n.*1146T>A)
c.1652T>A (p.Leu551Gln)
c.1070T>A (p.Leu357Gln)
c.*1534T>A (n.*1534T>A)
c.1671T>A (n.1671T>A)
c.1403T>A (p.Leu468Gln)
c.1529T>A (p.Leu510Gln)
c.1526T>A (p.Leu509Gln)
c.1565T>A (p.Leu522Gln)
c.448-13236T>A (n.448-13236T>A)
c.*93+3193T>A (n.*93+3193T>A)
n.2211T>A
c.1538T>A (p.Leu513Gln)
n.2134T>A
22g.29681516T>CCA411150195NF2c.1517T>C (p.Leu506Pro)
c.*1146T>C (n.*1146T>C)
c.1652T>C (p.Leu551Pro)
c.1070T>C (p.Leu357Pro)
c.*1534T>C (n.*1534T>C)
c.1671T>C (n.1671T>C)
c.1403T>C (p.Leu468Pro)
c.1529T>C (p.Leu510Pro)
c.1526T>C (p.Leu509Pro)
c.1565T>C (p.Leu522Pro)
c.448-13236T>C (n.448-13236T>C)
c.*93+3193T>C (n.*93+3193T>C)
n.2211T>C
c.1538T>C (p.Leu513Pro)
n.2134T>C
22g.29681516T>GCA411150197NF2c.1517T>G (p.Leu506Arg)
c.*1146T>G (n.*1146T>G)
c.1652T>G (p.Leu551Arg)
c.1070T>G (p.Leu357Arg)
c.*1534T>G (n.*1534T>G)
c.1671T>G (n.1671T>G)
c.1403T>G (p.Leu468Arg)
c.1529T>G (p.Leu510Arg)
c.1526T>G (p.Leu509Arg)
c.1565T>G (p.Leu522Arg)
c.448-13236T>G (n.448-13236T>G)
c.*93+3193T>G (n.*93+3193T>G)
n.2211T>G
c.1538T>G (p.Leu513Arg)
n.2134T>G
22g.29681516_29681519delCA2580615292NF2c.1517_1520del (p.Leu506GlnfsTer?)
c.*1146_*1149del (n.*1146_*1149del)
c.1652_1655del (p.Leu551GlnfsTer?)
c.1070_1073del (p.Leu357GlnfsTer?)
c.*1534_*1537del (n.*1534_*1537del)
c.1671_1674del (n.1671_1674del)
c.1403_1406del (p.Leu468GlnfsTer?)
c.1529_1532del (p.Leu510GlnfsTer?)
c.1526_1529del (p.Leu509GlnfsTer?)
c.1565_1568del (p.Leu522GlnfsTer?)
c.448-13236_448-13233del (n.448-13236_448-13233del)
c.*93+3193_*93+3196del (n.*93+3193_*93+3196del)
n.2211_2214del
c.1538_1541del (p.Leu513GlnfsTer?)
n.2134_2137del
ClinVar
22g.29681517G>ACA514190522NF2c.1518G>A (p.Leu506=)
c.*1147G>A (n.*1147G>A)
c.1653G>A (p.Leu551=)
c.1071G>A (p.Leu357=)
c.*1535G>A (n.*1535G>A)
c.1672G>A (n.1672G>A)
c.1404G>A (p.Leu468=)
c.1530G>A (p.Leu510=)
c.1527G>A (p.Leu509=)
c.1566G>A (p.Leu522=)
c.448-13235G>A (n.448-13235G>A)
c.*93+3194G>A (n.*93+3194G>A)
n.2212G>A
c.1539G>A (p.Leu513=)
n.2135G>A
ClinVar dbSNP
22g.29681517G>CCA514190523NF2c.1518G>C (p.Leu506=)
c.*1147G>C (n.*1147G>C)
c.1653G>C (p.Leu551=)
c.1071G>C (p.Leu357=)
c.*1535G>C (n.*1535G>C)
c.1672G>C (n.1672G>C)
c.1404G>C (p.Leu468=)
c.1530G>C (p.Leu510=)
c.1527G>C (p.Leu509=)
c.1566G>C (p.Leu522=)
c.448-13235G>C (n.448-13235G>C)
c.*93+3194G>C (n.*93+3194G>C)
n.2212G>C
c.1539G>C (p.Leu513=)
n.2135G>C
22g.29681517G=CA2400686826NF2c.1518G= (p.Leu506=)
c.*1147G= (n.*1147G=)
c.1653G= (p.Leu551=)
c.1071G= (p.Leu357=)
c.*1535G= (n.*1535G=)
c.1672G= (n.1672G=)
c.1404G= (p.Leu468=)
c.1530G= (p.Leu510=)
c.1527G= (p.Leu509=)
c.1566G= (p.Leu522=)
c.448-13235G= (n.448-13235G=)
c.*93+3194G= (n.*93+3194G=)
n.2212G=
c.1539G= (p.Leu513=)
n.2135G=
22g.29681517G>TCA514190526NF2c.1518G>T (p.Leu506=)
c.*1147G>T (n.*1147G>T)
c.1653G>T (p.Leu551=)
c.1071G>T (p.Leu357=)
c.*1535G>T (n.*1535G>T)
c.1672G>T (n.1672G>T)
c.1404G>T (p.Leu468=)
c.1530G>T (p.Leu510=)
c.1527G>T (p.Leu509=)
c.1566G>T (p.Leu522=)
c.448-13235G>T (n.448-13235G>T)
c.*93+3194G>T (n.*93+3194G>T)
n.2212G>T
c.1539G>T (p.Leu513=)
n.2135G>T
22g.29681518A>CCA411150198NF2c.1519A>C (p.Lys507Gln)
c.*1148A>C (n.*1148A>C)
c.1654A>C (p.Lys552Gln)
c.1072A>C (p.Lys358Gln)
c.*1536A>C (n.*1536A>C)
c.1673A>C (n.1673A>C)
c.1405A>C (p.Lys469Gln)
c.1531A>C (p.Lys511Gln)
c.1528A>C (p.Lys510Gln)
c.1567A>C (p.Lys523Gln)
c.448-13234A>C (n.448-13234A>C)
c.*93+3195A>C (n.*93+3195A>C)
n.2213A>C
c.1540A>C (p.Lys514Gln)
n.2136A>C
22g.29681518A>GCA411150200NF2c.1519A>G (p.Lys507Glu)
c.*1148A>G (n.*1148A>G)
c.1654A>G (p.Lys552Glu)
c.1072A>G (p.Lys358Glu)
c.*1536A>G (n.*1536A>G)
c.1673A>G (n.1673A>G)
c.1405A>G (p.Lys469Glu)
c.1531A>G (p.Lys511Glu)
c.1528A>G (p.Lys510Glu)
c.1567A>G (p.Lys523Glu)
c.448-13234A>G (n.448-13234A>G)
c.*93+3195A>G (n.*93+3195A>G)
n.2213A>G
c.1540A>G (p.Lys514Glu)
n.2136A>G
22g.29681518A>TCA411150202NF2c.1519A>T (p.Lys507Ter)
c.*1148A>T (n.*1148A>T)
c.1654A>T (p.Lys552Ter)
c.1072A>T (p.Lys358Ter)
c.*1536A>T (n.*1536A>T)
c.1673A>T (n.1673A>T)
c.1405A>T (p.Lys469Ter)
c.1531A>T (p.Lys511Ter)
c.1528A>T (p.Lys510Ter)
c.1567A>T (p.Lys523Ter)
c.448-13234A>T (n.448-13234A>T)
c.*93+3195A>T (n.*93+3195A>T)
n.2213A>T
c.1540A>T (p.Lys514Ter)
n.2136A>T
22g.29681519A>CCA411150205NF2c.1520A>C (p.Lys507Thr)
c.*1149A>C (n.*1149A>C)
c.1655A>C (p.Lys552Thr)
c.1073A>C (p.Lys358Thr)
c.*1537A>C (n.*1537A>C)
c.1674A>C (n.1674A>C)
c.1406A>C (p.Lys469Thr)
c.1532A>C (p.Lys511Thr)
c.1529A>C (p.Lys510Thr)
c.1568A>C (p.Lys523Thr)
c.448-13233A>C (n.448-13233A>C)
c.*93+3196A>C (n.*93+3196A>C)
n.2214A>C
c.1541A>C (p.Lys514Thr)
n.2137A>C
22g.29681519A>GCA411150207NF2c.1520A>G (p.Lys507Arg)
c.*1149A>G (n.*1149A>G)
c.1655A>G (p.Lys552Arg)
c.1073A>G (p.Lys358Arg)
c.*1537A>G (n.*1537A>G)
c.1674A>G (n.1674A>G)
c.1406A>G (p.Lys469Arg)
c.1532A>G (p.Lys511Arg)
c.1529A>G (p.Lys510Arg)
c.1568A>G (p.Lys523Arg)
c.448-13233A>G (n.448-13233A>G)
c.*93+3196A>G (n.*93+3196A>G)
n.2214A>G
c.1541A>G (p.Lys514Arg)
n.2137A>G
ClinVar
22g.29681519A>TCA411150204NF2c.1520A>T (p.Lys507Ile)
c.*1149A>T (n.*1149A>T)
c.1655A>T (p.Lys552Ile)
c.1073A>T (p.Lys358Ile)
c.*1537A>T (n.*1537A>T)
c.1674A>T (n.1674A>T)
c.1406A>T (p.Lys469Ile)
c.1532A>T (p.Lys511Ile)
c.1529A>T (p.Lys510Ile)
c.1568A>T (p.Lys523Ile)
c.448-13233A>T (n.448-13233A>T)
c.*93+3196A>T (n.*93+3196A>T)
n.2214A>T
c.1541A>T (p.Lys514Ile)
n.2137A>T
22g.29681519_29681521delinsAAGCA2400686827NF2c.1520_1522delinsAAG (p.Lys507=)
c.*1149_*1151delinsAAG (n.*1149_*1151delinsAAG)
c.1655_1657delinsAAG (p.Lys552=)
c.1073_1075delinsAAG (p.Lys358=)
c.*1537_*1539delinsAAG (n.*1537_*1539delinsAAG)
c.1674_1676delinsAAG (n.1674_1676delinsAAG)
c.1406_1408delinsAAG (p.Lys469=)
c.1532_1534delinsAAG (p.Lys511=)
c.1529_1531delinsAAG (p.Lys510=)
c.1568_1570delinsAAG (p.Lys523=)
c.448-13233_448-13231delinsAAG (n.448-13233_448-13231delinsAAG)
c.*93+3196_*93+3198delinsAAG (n.*93+3196_*93+3198delinsAAG)
n.2214_2216delinsAAG
c.1541_1543delinsAAG (p.Lys514=)
n.2137_2139delinsAAG
22g.29681520A>CCA411150212NF2c.1521A>C (p.Lys507Asn)
c.*1150A>C (n.*1150A>C)
c.1656A>C (p.Lys552Asn)
c.1074A>C (p.Lys358Asn)
c.*1538A>C (n.*1538A>C)
c.1675A>C (n.1675A>C)
c.1407A>C (p.Lys469Asn)
c.1533A>C (p.Lys511Asn)
c.1530A>C (p.Lys510Asn)
c.1569A>C (p.Lys523Asn)
c.448-13232A>C (n.448-13232A>C)
c.*93+3197A>C (n.*93+3197A>C)
n.2215A>C
c.1542A>C (p.Lys514Asn)
n.2138A>C
22g.29681520A>GCA514190541NF2c.1521A>G (p.Lys507=)
c.*1150A>G (n.*1150A>G)
c.1656A>G (p.Lys552=)
c.1074A>G (p.Lys358=)
c.*1538A>G (n.*1538A>G)
c.1675A>G (n.1675A>G)
c.1407A>G (p.Lys469=)
c.1533A>G (p.Lys511=)
c.1530A>G (p.Lys510=)
c.1569A>G (p.Lys523=)
c.448-13232A>G (n.448-13232A>G)
c.*93+3197A>G (n.*93+3197A>G)
n.2215A>G
c.1542A>G (p.Lys514=)
n.2138A>G
gnomAD v4
22g.29681520A>TCA411150210NF2c.1521A>T (p.Lys507Asn)
c.*1150A>T (n.*1150A>T)
c.1656A>T (p.Lys552Asn)
c.1074A>T (p.Lys358Asn)
c.*1538A>T (n.*1538A>T)
c.1675A>T (n.1675A>T)
c.1407A>T (p.Lys469Asn)
c.1533A>T (p.Lys511Asn)
c.1530A>T (p.Lys510Asn)
c.1569A>T (p.Lys523Asn)
c.448-13232A>T (n.448-13232A>T)
c.*93+3197A>T (n.*93+3197A>T)
n.2215A>T
c.1542A>T (p.Lys514Asn)
n.2138A>T
22g.29681524_29681525delCA915952875NF2c.1525_1526del (p.Arg509GlyfsTer10)
c.*1154_*1155del (n.*1154_*1155del)
c.1660_1661del (p.Arg554GlyfsTer10)
c.1078_1079del (p.Arg360GlyfsTer10)
c.*1542_*1543del (n.*1542_*1543del)
c.1679_1680del (n.1679_1680del)
c.1411_1412del (p.Arg471GlyfsTer10)
c.1537_1538del (p.Arg513GlyfsTer10)
c.1534_1535del (p.Arg512GlyfsTer10)
c.1573_1574del (p.Arg525GlyfsTer10)
c.448-13228_448-13227del (n.448-13228_448-13227del)
c.*93+3201_*93+3202del (n.*93+3201_*93+3202del)
n.2219_2220del
c.1546_1547del (p.Arg516GlyfsTer10)
n.2142_2143del
ClinVar dbSNP
22g.29681521G>ACA411150215NF2c.1522G>A (p.Glu508Lys)
c.*1151G>A (n.*1151G>A)
c.1657G>A (p.Glu553Lys)
c.1075G>A (p.Glu359Lys)
c.*1539G>A (n.*1539G>A)
c.1676G>A (n.1676G>A)
c.1408G>A (p.Glu470Lys)
c.1534G>A (p.Glu512Lys)
c.1531G>A (p.Glu511Lys)
c.1570G>A (p.Glu524Lys)
c.448-13231G>A (n.448-13231G>A)
c.*93+3198G>A (n.*93+3198G>A)
n.2216G>A
c.1543G>A (p.Glu515Lys)
n.2139G>A
22g.29681521G>CCA411150217NF2c.1522G>C (p.Glu508Gln)
c.*1151G>C (n.*1151G>C)
c.1657G>C (p.Glu553Gln)
c.1075G>C (p.Glu359Gln)
c.*1539G>C (n.*1539G>C)
c.1676G>C (n.1676G>C)
c.1408G>C (p.Glu470Gln)
c.1534G>C (p.Glu512Gln)
c.1531G>C (p.Glu511Gln)
c.1570G>C (p.Glu524Gln)
c.448-13231G>C (n.448-13231G>C)
c.*93+3198G>C (n.*93+3198G>C)
n.2216G>C
c.1543G>C (p.Glu515Gln)
n.2139G>C
22g.29681521G>TCA411150218NF2c.1522G>T (p.Glu508Ter)
c.*1151G>T (n.*1151G>T)
c.1657G>T (p.Glu553Ter)
c.1075G>T (p.Glu359Ter)
c.*1539G>T (n.*1539G>T)
c.1676G>T (n.1676G>T)
c.1408G>T (p.Glu470Ter)
c.1534G>T (p.Glu512Ter)
c.1531G>T (p.Glu511Ter)
c.1570G>T (p.Glu524Ter)
c.448-13231G>T (n.448-13231G>T)
c.*93+3198G>T (n.*93+3198G>T)
n.2216G>T
c.1543G>T (p.Glu515Ter)
n.2139G>T
22g.29681522A>CCA411150220NF2c.1523A>C (p.Glu508Ala)
c.*1152A>C (n.*1152A>C)
c.1658A>C (p.Glu553Ala)
c.1076A>C (p.Glu359Ala)
c.*1540A>C (n.*1540A>C)
c.1677A>C (n.1677A>C)
c.1409A>C (p.Glu470Ala)
c.1535A>C (p.Glu512Ala)
c.1532A>C (p.Glu511Ala)
c.1571A>C (p.Glu524Ala)
c.448-13230A>C (n.448-13230A>C)
c.*93+3199A>C (n.*93+3199A>C)
n.2217A>C
c.1544A>C (p.Glu515Ala)
n.2140A>C
ClinVar
22g.29681522A>GCA411150222NF2c.1523A>G (p.Glu508Gly)
c.*1152A>G (n.*1152A>G)
c.1658A>G (p.Glu553Gly)
c.1076A>G (p.Glu359Gly)
c.*1540A>G (n.*1540A>G)
c.1677A>G (n.1677A>G)
c.1409A>G (p.Glu470Gly)
c.1535A>G (p.Glu512Gly)
c.1532A>G (p.Glu511Gly)
c.1571A>G (p.Glu524Gly)
c.448-13230A>G (n.448-13230A>G)
c.*93+3199A>G (n.*93+3199A>G)
n.2217A>G
c.1544A>G (p.Glu515Gly)
n.2140A>G
ClinVar dbSNP gnomAD v4
22g.29681522A>TCA411150224NF2c.1523A>T (p.Glu508Val)
c.*1152A>T (n.*1152A>T)
c.1658A>T (p.Glu553Val)
c.1076A>T (p.Glu359Val)
c.*1540A>T (n.*1540A>T)
c.1677A>T (n.1677A>T)
c.1409A>T (p.Glu470Val)
c.1535A>T (p.Glu512Val)
c.1532A>T (p.Glu511Val)
c.1571A>T (p.Glu524Val)
c.448-13230A>T (n.448-13230A>T)
c.*93+3199A>T (n.*93+3199A>T)
n.2217A>T
c.1544A>T (p.Glu515Val)
n.2140A>T
22g.29681523G>ACA514190555NF2c.1524G>A (p.Glu508=)
c.*1153G>A (n.*1153G>A)
c.1659G>A (p.Glu553=)
c.1077G>A (p.Glu359=)
c.*1541G>A (n.*1541G>A)
c.1678G>A (n.1678G>A)
c.1410G>A (p.Glu470=)
c.1536G>A (p.Glu512=)
c.1533G>A (p.Glu511=)
c.1572G>A (p.Glu524=)
c.448-13229G>A (n.448-13229G>A)
c.*93+3200G>A (n.*93+3200G>A)
n.2218G>A
c.1545G>A (p.Glu515=)
n.2141G>A
22g.29681523G>CCA411150227NF2c.1524G>C (p.Glu508Asp)
c.*1153G>C (n.*1153G>C)
c.1659G>C (p.Glu553Asp)
c.1077G>C (p.Glu359Asp)
c.*1541G>C (n.*1541G>C)
c.1678G>C (n.1678G>C)
c.1410G>C (p.Glu470Asp)
c.1536G>C (p.Glu512Asp)
c.1533G>C (p.Glu511Asp)
c.1572G>C (p.Glu524Asp)
c.448-13229G>C (n.448-13229G>C)
c.*93+3200G>C (n.*93+3200G>C)
n.2218G>C
c.1545G>C (p.Glu515Asp)
n.2141G>C
22g.29681523G>TCA411150229NF2c.1524G>T (p.Glu508Asp)
c.*1153G>T (n.*1153G>T)
c.1659G>T (p.Glu553Asp)
c.1077G>T (p.Glu359Asp)
c.*1541G>T (n.*1541G>T)
c.1678G>T (n.1678G>T)
c.1410G>T (p.Glu470Asp)
c.1536G>T (p.Glu512Asp)
c.1533G>T (p.Glu511Asp)
c.1572G>T (p.Glu524Asp)
c.448-13229G>T (n.448-13229G>T)
c.*93+3200G>T (n.*93+3200G>T)
n.2218G>T
c.1545G>T (p.Glu515Asp)
n.2141G>T
22g.29681524A=CA2400686828NF2c.1525A= (p.Arg509=)
c.*1154A= (n.*1154A=)
c.1660A= (p.Arg554=)
c.1078A= (p.Arg360=)
c.*1542A= (n.*1542A=)
c.1679A= (n.1679A=)
c.1411A= (p.Arg471=)
c.1537A= (p.Arg513=)
c.1534A= (p.Arg512=)
c.1573A= (p.Arg525=)
c.448-13228A= (n.448-13228A=)
c.*93+3201A= (n.*93+3201A=)
n.2219A=
c.1546A= (p.Arg516=)
n.2142A=
22g.29681524A>CCA514190561NF2c.1525A>C (p.Arg509=)
c.*1154A>C (n.*1154A>C)
c.1660A>C (p.Arg554=)
c.1078A>C (p.Arg360=)
c.*1542A>C (n.*1542A>C)
c.1679A>C (n.1679A>C)
c.1411A>C (p.Arg471=)
c.1537A>C (p.Arg513=)
c.1534A>C (p.Arg512=)
c.1573A>C (p.Arg525=)
c.448-13228A>C (n.448-13228A>C)
c.*93+3201A>C (n.*93+3201A>C)
n.2219A>C
c.1546A>C (p.Arg516=)
n.2142A>C
ClinVar
22g.29681524A>GCA411150232NF2c.1525A>G (p.Arg509Gly)
c.*1154A>G (n.*1154A>G)
c.1660A>G (p.Arg554Gly)
c.1078A>G (p.Arg360Gly)
c.*1542A>G (n.*1542A>G)
c.1679A>G (n.1679A>G)
c.1411A>G (p.Arg471Gly)
c.1537A>G (p.Arg513Gly)
c.1534A>G (p.Arg512Gly)
c.1573A>G (p.Arg525Gly)
c.448-13228A>G (n.448-13228A>G)
c.*93+3201A>G (n.*93+3201A>G)
n.2219A>G
c.1546A>G (p.Arg516Gly)
n.2142A>G
ClinVar dbSNP gnomAD v4
22g.29681524A>TCA411150234NF2c.1525A>T (p.Arg509Trp)
c.*1154A>T (n.*1154A>T)
c.1660A>T (p.Arg554Trp)
c.1078A>T (p.Arg360Trp)
c.*1542A>T (n.*1542A>T)
c.1679A>T (n.1679A>T)
c.1411A>T (p.Arg471Trp)
c.1537A>T (p.Arg513Trp)
c.1534A>T (p.Arg512Trp)
c.1573A>T (p.Arg525Trp)
c.448-13228A>T (n.448-13228A>T)
c.*93+3201A>T (n.*93+3201A>T)
n.2219A>T
c.1546A>T (p.Arg516Trp)
n.2142A>T
ClinVar dbSNP
22g.29681525G>ACA411150239NF2c.1526G>A (p.Arg509Lys)
c.*1155G>A (n.*1155G>A)
c.1661G>A (p.Arg554Lys)
c.1079G>A (p.Arg360Lys)
c.*1543G>A (n.*1543G>A)
c.1680G>A (n.1680G>A)
c.1412G>A (p.Arg471Lys)
c.1538G>A (p.Arg513Lys)
c.1535G>A (p.Arg512Lys)
c.1574G>A (p.Arg525Lys)
c.448-13227G>A (n.448-13227G>A)
c.*93+3202G>A (n.*93+3202G>A)
n.2220G>A
c.1547G>A (p.Arg516Lys)
n.2143G>A
ClinVar dbSNP gnomAD v4
22g.29681525G>CCA411150238NF2c.1526G>C (p.Arg509Thr)
c.*1155G>C (n.*1155G>C)
c.1661G>C (p.Arg554Thr)
c.1079G>C (p.Arg360Thr)
c.*1543G>C (n.*1543G>C)
c.1680G>C (n.1680G>C)
c.1412G>C (p.Arg471Thr)
c.1538G>C (p.Arg513Thr)
c.1535G>C (p.Arg512Thr)
c.1574G>C (p.Arg525Thr)
c.448-13227G>C (n.448-13227G>C)
c.*93+3202G>C (n.*93+3202G>C)
n.2220G>C
c.1547G>C (p.Arg516Thr)
n.2143G>C
ClinVar gnomAD v4
22g.29681525G=CA2400686829NF2c.1526G= (p.Arg509=)
c.*1155G= (n.*1155G=)
c.1661G= (p.Arg554=)
c.1079G= (p.Arg360=)
c.*1543G= (n.*1543G=)
c.1680G= (n.1680G=)
c.1412G= (p.Arg471=)
c.1538G= (p.Arg513=)
c.1535G= (p.Arg512=)
c.1574G= (p.Arg525=)
c.448-13227G= (n.448-13227G=)
c.*93+3202G= (n.*93+3202G=)
n.2220G=
c.1547G= (p.Arg516=)
n.2143G=
22g.29681525G>TCA411150236NF2c.1526G>T (p.Arg509Met)
c.*1155G>T (n.*1155G>T)
c.1661G>T (p.Arg554Met)
c.1079G>T (p.Arg360Met)
c.*1543G>T (n.*1543G>T)
c.1680G>T (n.1680G>T)
c.1412G>T (p.Arg471Met)
c.1538G>T (p.Arg513Met)
c.1535G>T (p.Arg512Met)
c.1574G>T (p.Arg525Met)
c.448-13227G>T (n.448-13227G>T)
c.*93+3202G>T (n.*93+3202G>T)
n.2220G>T
c.1547G>T (p.Arg516Met)
n.2143G>T
22g.29681527delCA2656032905NF2c.1528del (p.Glu510ArgfsTer?)
c.*1157del (n.*1157del)
c.1663del (p.Glu555ArgfsTer?)
c.1081del (p.Glu361ArgfsTer?)
c.*1545del (n.*1545del)
c.1682del (n.1682del)
c.1414del (p.Glu472ArgfsTer?)
c.1540del (p.Glu514ArgfsTer?)
c.1537del (p.Glu513ArgfsTer?)
c.1576del (p.Glu526ArgfsTer?)
c.448-13225del (n.448-13225del)
c.*93+3204del (n.*93+3204del)
n.2222del
c.1549del (p.Glu517ArgfsTer?)
n.2145del
gnomAD v4
22g.29681526G>ACA514190572NF2c.1527G>A (p.Arg509=)
c.*1156G>A (n.*1156G>A)
c.1662G>A (p.Arg554=)
c.1080G>A (p.Arg360=)
c.*1544G>A (n.*1544G>A)
c.1681G>A (n.1681G>A)
c.1413G>A (p.Arg471=)
c.1539G>A (p.Arg513=)
c.1536G>A (p.Arg512=)
c.1575G>A (p.Arg525=)
c.448-13226G>A (n.448-13226G>A)
c.*93+3203G>A (n.*93+3203G>A)
n.2221G>A
c.1548G>A (p.Arg516=)
n.2144G>A
gnomAD v4
22g.29681526G>CCA411150241NF2c.1527G>C (p.Arg509Ser)
c.*1156G>C (n.*1156G>C)
c.1662G>C (p.Arg554Ser)
c.1080G>C (p.Arg360Ser)
c.*1544G>C (n.*1544G>C)
c.1681G>C (n.1681G>C)
c.1413G>C (p.Arg471Ser)
c.1539G>C (p.Arg513Ser)
c.1536G>C (p.Arg512Ser)
c.1575G>C (p.Arg525Ser)
c.448-13226G>C (n.448-13226G>C)
c.*93+3203G>C (n.*93+3203G>C)
n.2221G>C
c.1548G>C (p.Arg516Ser)
n.2144G>C
22g.29681526G>TCA411150242NF2c.1527G>T (p.Arg509Ser)
c.*1156G>T (n.*1156G>T)
c.1662G>T (p.Arg554Ser)
c.1080G>T (p.Arg360Ser)
c.*1544G>T (n.*1544G>T)
c.1681G>T (n.1681G>T)
c.1413G>T (p.Arg471Ser)
c.1539G>T (p.Arg513Ser)
c.1536G>T (p.Arg512Ser)
c.1575G>T (p.Arg525Ser)
c.448-13226G>T (n.448-13226G>T)
c.*93+3203G>T (n.*93+3203G>T)
n.2221G>T
c.1548G>T (p.Arg516Ser)
n.2144G>T
22g.29681527G>ACA411150245NF2c.1528G>A (p.Glu510Lys)
c.*1157G>A (n.*1157G>A)
c.1663G>A (p.Glu555Lys)
c.1081G>A (p.Glu361Lys)
c.*1545G>A (n.*1545G>A)
c.1682G>A (n.1682G>A)
c.1414G>A (p.Glu472Lys)
c.1540G>A (p.Glu514Lys)
c.1537G>A (p.Glu513Lys)
c.1576G>A (p.Glu526Lys)
c.448-13225G>A (n.448-13225G>A)
c.*93+3204G>A (n.*93+3204G>A)
n.2222G>A
c.1549G>A (p.Glu517Lys)
n.2145G>A
ClinVar
22g.29681527G>CCA411150247NF2c.1528G>C (p.Glu510Gln)
c.*1157G>C (n.*1157G>C)
c.1663G>C (p.Glu555Gln)
c.1081G>C (p.Glu361Gln)
c.*1545G>C (n.*1545G>C)
c.1682G>C (n.1682G>C)
c.1414G>C (p.Glu472Gln)
c.1540G>C (p.Glu514Gln)
c.1537G>C (p.Glu513Gln)
c.1576G>C (p.Glu526Gln)
c.448-13225G>C (n.448-13225G>C)
c.*93+3204G>C (n.*93+3204G>C)
n.2222G>C
c.1549G>C (p.Glu517Gln)
n.2145G>C
ClinVar gnomAD v4
22g.29681527G>TCA411150249NF2c.1528G>T (p.Glu510Ter)
c.*1157G>T (n.*1157G>T)
c.1663G>T (p.Glu555Ter)
c.1081G>T (p.Glu361Ter)
c.*1545G>T (n.*1545G>T)
c.1682G>T (n.1682G>T)
c.1414G>T (p.Glu472Ter)
c.1540G>T (p.Glu514Ter)
c.1537G>T (p.Glu513Ter)
c.1576G>T (p.Glu526Ter)
c.448-13225G>T (n.448-13225G>T)
c.*93+3204G>T (n.*93+3204G>T)
n.2222G>T
c.1549G>T (p.Glu517Ter)
n.2145G>T
22g.29681528A>CCA411150252NF2c.1529A>C (p.Glu510Ala)
c.*1158A>C (n.*1158A>C)
c.1664A>C (p.Glu555Ala)
c.1082A>C (p.Glu361Ala)
c.*1546A>C (n.*1546A>C)
c.1683A>C (n.1683A>C)
c.1415A>C (p.Glu472Ala)
c.1541A>C (p.Glu514Ala)
c.1538A>C (p.Glu513Ala)
c.1577A>C (p.Glu526Ala)
c.448-13224A>C (n.448-13224A>C)
c.*93+3205A>C (n.*93+3205A>C)
n.2223A>C
c.1550A>C (p.Glu517Ala)
n.2146A>C
22g.29681528A>GCA411150254NF2c.1529A>G (p.Glu510Gly)
c.*1158A>G (n.*1158A>G)
c.1664A>G (p.Glu555Gly)
c.1082A>G (p.Glu361Gly)
c.*1546A>G (n.*1546A>G)
c.1683A>G (n.1683A>G)
c.1415A>G (p.Glu472Gly)
c.1541A>G (p.Glu514Gly)
c.1538A>G (p.Glu513Gly)
c.1577A>G (p.Glu526Gly)
c.448-13224A>G (n.448-13224A>G)
c.*93+3205A>G (n.*93+3205A>G)
n.2223A>G
c.1550A>G (p.Glu517Gly)
n.2146A>G
22g.29681528A>TCA411150256NF2c.1529A>T (p.Glu510Val)
c.*1158A>T (n.*1158A>T)
c.1664A>T (p.Glu555Val)
c.1082A>T (p.Glu361Val)
c.*1546A>T (n.*1546A>T)
c.1683A>T (n.1683A>T)
c.1415A>T (p.Glu472Val)
c.1541A>T (p.Glu514Val)
c.1538A>T (p.Glu513Val)
c.1577A>T (p.Glu526Val)
c.448-13224A>T (n.448-13224A>T)
c.*93+3205A>T (n.*93+3205A>T)
n.2223A>T
c.1550A>T (p.Glu517Val)
n.2146A>T
22g.29681529G>ACA514190587NF2c.1530G>A (p.Glu510=)
c.*1159G>A (n.*1159G>A)
c.1665G>A (p.Glu555=)
c.1083G>A (p.Glu361=)
c.*1547G>A (n.*1547G>A)
c.1684G>A (n.1684G>A)
c.1416G>A (p.Glu472=)
c.1542G>A (p.Glu514=)
c.1539G>A (p.Glu513=)
c.1578G>A (p.Glu526=)
c.448-13223G>A (n.448-13223G>A)
c.*93+3206G>A (n.*93+3206G>A)
n.2224G>A
c.1551G>A (p.Glu517=)
n.2147G>A
ClinVar dbSNP
22g.29681529G>CCA411150258NF2c.1530G>C (p.Glu510Asp)
c.*1159G>C (n.*1159G>C)
c.1665G>C (p.Glu555Asp)
c.1083G>C (p.Glu361Asp)
c.*1547G>C (n.*1547G>C)
c.1684G>C (n.1684G>C)
c.1416G>C (p.Glu472Asp)
c.1542G>C (p.Glu514Asp)
c.1539G>C (p.Glu513Asp)
c.1578G>C (p.Glu526Asp)
c.448-13223G>C (n.448-13223G>C)
c.*93+3206G>C (n.*93+3206G>C)
n.2224G>C
c.1551G>C (p.Glu517Asp)
n.2147G>C
22g.29681529G>TCA411150260NF2c.1530G>T (p.Glu510Asp)
c.*1159G>T (n.*1159G>T)
c.1665G>T (p.Glu555Asp)
c.1083G>T (p.Glu361Asp)
c.*1547G>T (n.*1547G>T)
c.1684G>T (n.1684G>T)
c.1416G>T (p.Glu472Asp)
c.1542G>T (p.Glu514Asp)
c.1539G>T (p.Glu513Asp)
c.1578G>T (p.Glu526Asp)
c.448-13223G>T (n.448-13223G>T)
c.*93+3206G>T (n.*93+3206G>T)
n.2224G>T
c.1551G>T (p.Glu517Asp)
n.2147G>T
22g.29681530A>CCA411150262NF2c.1531A>C (p.Thr511Pro)
c.*1160A>C (n.*1160A>C)
c.1666A>C (p.Thr556Pro)
c.1084A>C (p.Thr362Pro)
c.*1548A>C (n.*1548A>C)
c.1685A>C (n.1685A>C)
c.1417A>C (p.Thr473Pro)
c.1543A>C (p.Thr515Pro)
c.1540A>C (p.Thr514Pro)
c.1579A>C (p.Thr527Pro)
c.448-13222A>C (n.448-13222A>C)
c.*93+3207A>C (n.*93+3207A>C)
n.2225A>C
c.1552A>C (p.Thr518Pro)
n.2148A>C
22g.29681530A>GCA411150264NF2c.1531A>G (p.Thr511Ala)
c.*1160A>G (n.*1160A>G)
c.1666A>G (p.Thr556Ala)
c.1084A>G (p.Thr362Ala)
c.*1548A>G (n.*1548A>G)
c.1685A>G (n.1685A>G)
c.1417A>G (p.Thr473Ala)
c.1543A>G (p.Thr515Ala)
c.1540A>G (p.Thr514Ala)
c.1579A>G (p.Thr527Ala)
c.448-13222A>G (n.448-13222A>G)
c.*93+3207A>G (n.*93+3207A>G)
n.2225A>G
c.1552A>G (p.Thr518Ala)
n.2148A>G
ClinVar
22g.29681530A>TCA411150265NF2c.1531A>T (p.Thr511Ser)
c.*1160A>T (n.*1160A>T)
c.1666A>T (p.Thr556Ser)
c.1084A>T (p.Thr362Ser)
c.*1548A>T (n.*1548A>T)
c.1685A>T (n.1685A>T)
c.1417A>T (p.Thr473Ser)
c.1543A>T (p.Thr515Ser)
c.1540A>T (p.Thr514Ser)
c.1579A>T (p.Thr527Ser)
c.448-13222A>T (n.448-13222A>T)
c.*93+3207A>T (n.*93+3207A>T)
n.2225A>T
c.1552A>T (p.Thr518Ser)
n.2148A>T
22g.29681531C>ACA411150267NF2c.1532C>A (p.Thr511Lys)
c.*1161C>A (n.*1161C>A)
c.1667C>A (p.Thr556Lys)
c.1085C>A (p.Thr362Lys)
c.*1549C>A (n.*1549C>A)
c.1686C>A (n.1686C>A)
c.1418C>A (p.Thr473Lys)
c.1544C>A (p.Thr515Lys)
c.1541C>A (p.Thr514Lys)
c.1580C>A (p.Thr527Lys)
c.448-13221C>A (n.448-13221C>A)
c.*93+3208C>A (n.*93+3208C>A)
n.2226C>A
c.1553C>A (p.Thr518Lys)
n.2149C>A
22g.29681531C=CA2400686830NF2c.1532C= (p.Thr511=)
c.*1161C= (n.*1161C=)
c.1667C= (p.Thr556=)
c.1085C= (p.Thr362=)
c.*1549C= (n.*1549C=)
c.1686C= (n.1686C=)
c.1418C= (p.Thr473=)
c.1544C= (p.Thr515=)
c.1541C= (p.Thr514=)
c.1580C= (p.Thr527=)
c.448-13221C= (n.448-13221C=)
c.*93+3208C= (n.*93+3208C=)
n.2226C=
c.1553C= (p.Thr518=)
n.2149C=
22g.29681531C>GCA411150269NF2c.1532C>G (p.Thr511Arg)
c.*1161C>G (n.*1161C>G)
c.1667C>G (p.Thr556Arg)
c.1085C>G (p.Thr362Arg)
c.*1549C>G (n.*1549C>G)
c.1686C>G (n.1686C>G)
c.1418C>G (p.Thr473Arg)
c.1544C>G (p.Thr515Arg)
c.1541C>G (p.Thr514Arg)
c.1580C>G (p.Thr527Arg)
c.448-13221C>G (n.448-13221C>G)
c.*93+3208C>G (n.*93+3208C>G)
n.2226C>G
c.1553C>G (p.Thr518Arg)
n.2149C>G
22g.29681531C>TCA032497NF2c.1532C>T (p.Thr511Ile)
c.*1161C>T (n.*1161C>T)
c.1667C>T (p.Thr556Ile)
c.1085C>T (p.Thr362Ile)
c.*1549C>T (n.*1549C>T)
c.1686C>T (n.1686C>T)
c.1418C>T (p.Thr473Ile)
c.1544C>T (p.Thr515Ile)
c.1541C>T (p.Thr514Ile)
c.1580C>T (p.Thr527Ile)
c.448-13221C>T (n.448-13221C>T)
c.*93+3208C>T (n.*93+3208C>T)
n.2226C>T
c.1553C>T (p.Thr518Ile)
n.2149C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.29681532A>CCA514190607NF2c.1533A>C (p.Thr511=)
c.*1162A>C (n.*1162A>C)
c.1668A>C (p.Thr556=)
c.1086A>C (p.Thr362=)
c.*1550A>C (n.*1550A>C)
c.1687A>C (n.1687A>C)
c.1419A>C (p.Thr473=)
c.1545A>C (p.Thr515=)
c.1542A>C (p.Thr514=)
c.1581A>C (p.Thr527=)
c.448-13220A>C (n.448-13220A>C)
c.*93+3209A>C (n.*93+3209A>C)
n.2227A>C
c.1554A>C (p.Thr518=)
n.2150A>C
22g.29681532A>GCA514190605NF2c.1533A>G (p.Thr511=)
c.*1162A>G (n.*1162A>G)
c.1668A>G (p.Thr556=)
c.1086A>G (p.Thr362=)
c.*1550A>G (n.*1550A>G)
c.1687A>G (n.1687A>G)
c.1419A>G (p.Thr473=)
c.1545A>G (p.Thr515=)
c.1542A>G (p.Thr514=)
c.1581A>G (p.Thr527=)
c.448-13220A>G (n.448-13220A>G)
c.*93+3209A>G (n.*93+3209A>G)
n.2227A>G
c.1554A>G (p.Thr518=)
n.2150A>G
22g.29681532A>TCA514190603NF2c.1533A>T (p.Thr511=)
c.*1162A>T (n.*1162A>T)
c.1668A>T (p.Thr556=)
c.1086A>T (p.Thr362=)
c.*1550A>T (n.*1550A>T)
c.1687A>T (n.1687A>T)
c.1419A>T (p.Thr473=)
c.1545A>T (p.Thr515=)
c.1542A>T (p.Thr514=)
c.1581A>T (p.Thr527=)
c.448-13220A>T (n.448-13220A>T)
c.*93+3209A>T (n.*93+3209A>T)
n.2227A>T
c.1554A>T (p.Thr518=)
n.2150A>T
22g.29681533G>ACA032511NF2c.1534G>A (p.Ala512Thr)
c.*1163G>A (n.*1163G>A)
c.1669G>A (p.Ala557Thr)
c.1087G>A (p.Ala363Thr)
c.*1551G>A (n.*1551G>A)
c.1688G>A (n.1688G>A)
c.1420G>A (p.Ala474Thr)
c.1546G>A (p.Ala516Thr)
c.1543G>A (p.Ala515Thr)
c.1582G>A (p.Ala528Thr)
c.448-13219G>A (n.448-13219G>A)
c.*93+3210G>A (n.*93+3210G>A)
n.2228G>A
c.1555G>A (p.Ala519Thr)
n.2151G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.29681533G>CCA411150272NF2c.1534G>C (p.Ala512Pro)
c.*1163G>C (n.*1163G>C)
c.1669G>C (p.Ala557Pro)
c.1087G>C (p.Ala363Pro)
c.*1551G>C (n.*1551G>C)
c.1688G>C (n.1688G>C)
c.1420G>C (p.Ala474Pro)
c.1546G>C (p.Ala516Pro)
c.1543G>C (p.Ala515Pro)
c.1582G>C (p.Ala528Pro)
c.448-13219G>C (n.448-13219G>C)
c.*93+3210G>C (n.*93+3210G>C)
n.2228G>C
c.1555G>C (p.Ala519Pro)
n.2151G>C
22g.29681533G=CA2400686831NF2c.1534G= (p.Ala512=)
c.*1163G= (n.*1163G=)
c.1669G= (p.Ala557=)
c.1087G= (p.Ala363=)
c.*1551G= (n.*1551G=)
c.1688G= (n.1688G=)
c.1420G= (p.Ala474=)
c.1546G= (p.Ala516=)
c.1543G= (p.Ala515=)
c.1582G= (p.Ala528=)
c.448-13219G= (n.448-13219G=)
c.*93+3210G= (n.*93+3210G=)
n.2228G=
c.1555G= (p.Ala519=)
n.2151G=
22g.29681533G>TCA411150274NF2c.1534G>T (p.Ala512Ser)
c.*1163G>T (n.*1163G>T)
c.1669G>T (p.Ala557Ser)
c.1087G>T (p.Ala363Ser)
c.*1551G>T (n.*1551G>T)
c.1688G>T (n.1688G>T)
c.1420G>T (p.Ala474Ser)
c.1546G>T (p.Ala516Ser)
c.1543G>T (p.Ala515Ser)
c.1582G>T (p.Ala528Ser)
c.448-13219G>T (n.448-13219G>T)
c.*93+3210G>T (n.*93+3210G>T)
n.2228G>T
c.1555G>T (p.Ala519Ser)
n.2151G>T
22g.29681534C>ACA411150276NF2c.1535C>A (p.Ala512Asp)
c.*1164C>A (n.*1164C>A)
c.1670C>A (p.Ala557Asp)
c.1088C>A (p.Ala363Asp)
c.*1552C>A (n.*1552C>A)
c.1689C>A (n.1689C>A)
c.1421C>A (p.Ala474Asp)
c.1547C>A (p.Ala516Asp)
c.1544C>A (p.Ala515Asp)
c.1583C>A (p.Ala528Asp)
c.448-13218C>A (n.448-13218C>A)
c.*93+3211C>A (n.*93+3211C>A)
n.2229C>A
c.1556C>A (p.Ala519Asp)
n.2152C>A
ClinVar gnomAD v4
22g.29681534C>GCA411150278NF2c.1535C>G (p.Ala512Gly)
c.*1164C>G (n.*1164C>G)
c.1670C>G (p.Ala557Gly)
c.1088C>G (p.Ala363Gly)
c.*1552C>G (n.*1552C>G)
c.1689C>G (n.1689C>G)
c.1421C>G (p.Ala474Gly)
c.1547C>G (p.Ala516Gly)
c.1544C>G (p.Ala515Gly)
c.1583C>G (p.Ala528Gly)
c.448-13218C>G (n.448-13218C>G)
c.*93+3211C>G (n.*93+3211C>G)
n.2229C>G
c.1556C>G (p.Ala519Gly)
n.2152C>G
ClinVar dbSNP
22g.29681534C>TCA411150280NF2c.1535C>T (p.Ala512Val)
c.*1164C>T (n.*1164C>T)
c.1670C>T (p.Ala557Val)
c.1088C>T (p.Ala363Val)
c.*1552C>T (n.*1552C>T)
c.1689C>T (n.1689C>T)
c.1421C>T (p.Ala474Val)
c.1547C>T (p.Ala516Val)
c.1544C>T (p.Ala515Val)
c.1583C>T (p.Ala528Val)
c.448-13218C>T (n.448-13218C>T)
c.*93+3211C>T (n.*93+3211C>T)
n.2229C>T
c.1556C>T (p.Ala519Val)
n.2152C>T
gnomAD v4
22g.29681535T>ACA514190618NF2c.1536T>A (p.Ala512=)
c.*1165T>A (n.*1165T>A)
c.1671T>A (p.Ala557=)
c.1089T>A (p.Ala363=)
c.*1553T>A (n.*1553T>A)
c.1690T>A (n.1690T>A)
c.1422T>A (p.Ala474=)
c.1548T>A (p.Ala516=)
c.1545T>A (p.Ala515=)
c.1584T>A (p.Ala528=)
c.448-13217T>A (n.448-13217T>A)
c.*93+3212T>A (n.*93+3212T>A)
n.2230T>A
c.1557T>A (p.Ala519=)
n.2153T>A
22g.29681535T>CCA032526NF2c.1536T>C (p.Ala512=)
c.*1165T>C (n.*1165T>C)
c.1671T>C (p.Ala557=)
c.1089T>C (p.Ala363=)
c.*1553T>C (n.*1553T>C)
c.1690T>C (n.1690T>C)
c.1422T>C (p.Ala474=)
c.1548T>C (p.Ala516=)
c.1545T>C (p.Ala515=)
c.1584T>C (p.Ala528=)
c.448-13217T>C (n.448-13217T>C)
c.*93+3212T>C (n.*93+3212T>C)
n.2230T>C
c.1557T>C (p.Ala519=)
n.2153T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.29681535T>GCA514190619NF2c.1536T>G (p.Ala512=)
c.*1165T>G (n.*1165T>G)
c.1671T>G (p.Ala557=)
c.1089T>G (p.Ala363=)
c.*1553T>G (n.*1553T>G)
c.1690T>G (n.1690T>G)
c.1422T>G (p.Ala474=)
c.1548T>G (p.Ala516=)
c.1545T>G (p.Ala515=)
c.1584T>G (p.Ala528=)
c.448-13217T>G (n.448-13217T>G)
c.*93+3212T>G (n.*93+3212T>G)
n.2230T>G
c.1557T>G (p.Ala519=)
n.2153T>G
22g.29681535T=CA2400686832NF2c.1536T= (p.Ala512=)
c.*1165T= (n.*1165T=)
c.1671T= (p.Ala557=)
c.1089T= (p.Ala363=)
c.*1553T= (n.*1553T=)
c.1690T= (n.1690T=)
c.1422T= (p.Ala474=)
c.1548T= (p.Ala516=)
c.1545T= (p.Ala515=)
c.1584T= (p.Ala528=)
c.448-13217T= (n.448-13217T=)
c.*93+3212T= (n.*93+3212T=)
n.2230T=
c.1557T= (p.Ala519=)
n.2153T=
22g.29681536C>ACA411150285NF2c.1537C>A (p.Leu513Met)
c.*1166C>A (n.*1166C>A)
c.1672C>A (p.Leu558Met)
c.1090C>A (p.Leu364Met)
c.*1554C>A (n.*1554C>A)
c.1691C>A (n.1691C>A)
c.1423C>A (p.Leu475Met)
c.1549C>A (p.Leu517Met)
c.1546C>A (p.Leu516Met)
c.1585C>A (p.Leu529Met)
c.448-13216C>A (n.448-13216C>A)
c.*93+3213C>A (n.*93+3213C>A)
n.2231C>A
c.1558C>A (p.Leu520Met)
n.2154C>A
22g.29681536C=CA2400686833NF2c.1537C= (p.Leu513=)
c.*1166C= (n.*1166C=)
c.1672C= (p.Leu558=)
c.1090C= (p.Leu364=)
c.*1554C= (n.*1554C=)
c.1691C= (n.1691C=)
c.1423C= (p.Leu475=)
c.1549C= (p.Leu517=)
c.1546C= (p.Leu516=)
c.1585C= (p.Leu529=)
c.448-13216C= (n.448-13216C=)
c.*93+3213C= (n.*93+3213C=)
n.2231C=
c.1558C= (p.Leu520=)
n.2154C=
22g.29681536C>GCA032541NF2c.1537C>G (p.Leu513Val)
c.*1166C>G (n.*1166C>G)
c.1672C>G (p.Leu558Val)
c.1090C>G (p.Leu364Val)
c.*1554C>G (n.*1554C>G)
c.1691C>G (n.1691C>G)
c.1423C>G (p.Leu475Val)
c.1549C>G (p.Leu517Val)
c.1546C>G (p.Leu516Val)
c.1585C>G (p.Leu529Val)
c.448-13216C>G (n.448-13216C>G)
c.*93+3213C>G (n.*93+3213C>G)
n.2231C>G
c.1558C>G (p.Leu520Val)
n.2154C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22g.29681536C>TCA514190620NF2c.1537C>T (p.Leu513=)
c.*1166C>T (n.*1166C>T)
c.1672C>T (p.Leu558=)
c.1090C>T (p.Leu364=)
c.*1554C>T (n.*1554C>T)
c.1691C>T (n.1691C>T)
c.1423C>T (p.Leu475=)
c.1549C>T (p.Leu517=)
c.1546C>T (p.Leu516=)
c.1585C>T (p.Leu529=)
c.448-13216C>T (n.448-13216C>T)
c.*93+3213C>T (n.*93+3213C>T)
n.2231C>T
c.1558C>T (p.Leu520=)
n.2154C>T
22g.29681537T>ACA411150289NF2c.1538T>A (p.Leu513Gln)
c.*1167T>A (n.*1167T>A)
c.1673T>A (p.Leu558Gln)
c.1091T>A (p.Leu364Gln)
c.*1555T>A (n.*1555T>A)
c.1692T>A (n.1692T>A)
c.1424T>A (p.Leu475Gln)
c.1550T>A (p.Leu517Gln)
c.1547T>A (p.Leu516Gln)
c.1586T>A (p.Leu529Gln)
c.448-13215T>A (n.448-13215T>A)
c.*93+3214T>A (n.*93+3214T>A)
n.2232T>A
c.1559T>A (p.Leu520Gln)
n.2155T>A
22g.29681537T>CCA411150292NF2c.1538T>C (p.Leu513Pro)
c.*1167T>C (n.*1167T>C)
c.1673T>C (p.Leu558Pro)
c.1091T>C (p.Leu364Pro)
c.*1555T>C (n.*1555T>C)
c.1692T>C (n.1692T>C)
c.1424T>C (p.Leu475Pro)
c.1550T>C (p.Leu517Pro)
c.1547T>C (p.Leu516Pro)
c.1586T>C (p.Leu529Pro)
c.448-13215T>C (n.448-13215T>C)
c.*93+3214T>C (n.*93+3214T>C)
n.2232T>C
c.1559T>C (p.Leu520Pro)
n.2155T>C
22g.29681537T>GCA411150294NF2c.1538T>G (p.Leu513Arg)
c.*1167T>G (n.*1167T>G)
c.1673T>G (p.Leu558Arg)
c.1091T>G (p.Leu364Arg)
c.*1555T>G (n.*1555T>G)
c.1692T>G (n.1692T>G)
c.1424T>G (p.Leu475Arg)
c.1550T>G (p.Leu517Arg)
c.1547T>G (p.Leu516Arg)
c.1586T>G (p.Leu529Arg)
c.448-13215T>G (n.448-13215T>G)
c.*93+3214T>G (n.*93+3214T>G)
n.2232T>G
c.1559T>G (p.Leu520Arg)
n.2155T>G
22g.29681537dupCA2818685035NF2c.1538dup (p.Asp514GlyfsTer6)
c.*1167dup (n.*1167dup)
c.1673dup (p.Asp559GlyfsTer6)
c.1091dup (p.Asp365GlyfsTer6)
c.*1555dup (n.*1555dup)
c.1692dup (n.1692dup)
c.1424dup (p.Asp476GlyfsTer6)
c.1550dup (p.Asp518GlyfsTer6)
c.1547dup (p.Asp517GlyfsTer6)
c.1586dup (p.Asp530GlyfsTer6)
c.448-13215dup (n.448-13215dup)
c.*93+3214dup (n.*93+3214dup)
n.2232dup
c.1559dup (p.Asp521GlyfsTer6)
n.2155dup
22g.29681538G>ACA514190622NF2c.1539G>A (p.Leu513=)
c.*1168G>A (n.*1168G>A)
c.1674G>A (p.Leu558=)
c.1092G>A (p.Leu364=)
c.*1556G>A (n.*1556G>A)
c.1693G>A (n.1693G>A)
c.1425G>A (p.Leu475=)
c.1551G>A (p.Leu517=)
c.1548G>A (p.Leu516=)
c.1587G>A (p.Leu529=)
c.448-13214G>A (n.448-13214G>A)
c.*93+3215G>A (n.*93+3215G>A)
n.2233G>A
c.1560G>A (p.Leu520=)
n.2156G>A
22g.29681538G>CCA514190624NF2c.1539G>C (p.Leu513=)
c.*1168G>C (n.*1168G>C)
c.1674G>C (p.Leu558=)
c.1092G>C (p.Leu364=)
c.*1556G>C (n.*1556G>C)
c.1693G>C (n.1693G>C)
c.1425G>C (p.Leu475=)
c.1551G>C (p.Leu517=)
c.1548G>C (p.Leu516=)
c.1587G>C (p.Leu529=)
c.448-13214G>C (n.448-13214G>C)
c.*93+3215G>C (n.*93+3215G>C)
n.2233G>C
c.1560G>C (p.Leu520=)
n.2156G>C
22g.29681538G>TCA514190623NF2c.1539G>T (p.Leu513=)
c.*1168G>T (n.*1168G>T)
c.1674G>T (p.Leu558=)
c.1092G>T (p.Leu364=)
c.*1556G>T (n.*1556G>T)
c.1693G>T (n.1693G>T)
c.1425G>T (p.Leu475=)
c.1551G>T (p.Leu517=)
c.1548G>T (p.Leu516=)
c.1587G>T (p.Leu529=)
c.448-13214G>T (n.448-13214G>T)
c.*93+3215G>T (n.*93+3215G>T)
n.2233G>T
c.1560G>T (p.Leu520=)
n.2156G>T
22g.29681539G>ACA411150298NF2c.1540G>A (p.Asp514Asn)
c.*1169G>A (n.*1169G>A)
c.1675G>A (p.Asp559Asn)
c.1093G>A (p.Asp365Asn)
c.*1557G>A (n.*1557G>A)
c.1694G>A (n.1694G>A)
c.1426G>A (p.Asp476Asn)
c.1552G>A (p.Asp518Asn)
c.1549G>A (p.Asp517Asn)
c.1588G>A (p.Asp530Asn)
c.448-13213G>A (n.448-13213G>A)
c.*93+3216G>A (n.*93+3216G>A)
n.2234G>A
c.1561G>A (p.Asp521Asn)
n.2157G>A
22g.29681539G>CCA411150300NF2c.1540G>C (p.Asp514His)
c.*1169G>C (n.*1169G>C)
c.1675G>C (p.Asp559His)
c.1093G>C (p.Asp365His)
c.*1557G>C (n.*1557G>C)
c.1694G>C (n.1694G>C)
c.1426G>C (p.Asp476His)
c.1552G>C (p.Asp518His)
c.1549G>C (p.Asp517His)
c.1588G>C (p.Asp530His)
c.448-13213G>C (n.448-13213G>C)
c.*93+3216G>C (n.*93+3216G>C)
n.2234G>C
c.1561G>C (p.Asp521His)
n.2157G>C
dbSNP
22g.29681539G=CA2400686834NF2c.1540G= (p.Asp514=)
c.*1169G= (n.*1169G=)
c.1675G= (p.Asp559=)
c.1093G= (p.Asp365=)
c.*1557G= (n.*1557G=)
c.1694G= (n.1694G=)
c.1426G= (p.Asp476=)
c.1552G= (p.Asp518=)
c.1549G= (p.Asp517=)
c.1588G= (p.Asp530=)
c.448-13213G= (n.448-13213G=)
c.*93+3216G= (n.*93+3216G=)
n.2234G=
c.1561G= (p.Asp521=)
n.2157G=
22g.29681539G>TCA323120976NF2c.1540G>T (p.Asp514Tyr)
c.*1169G>T (n.*1169G>T)
c.1675G>T (p.Asp559Tyr)
c.1093G>T (p.Asp365Tyr)
c.*1557G>T (n.*1557G>T)
c.1694G>T (n.1694G>T)
c.1426G>T (p.Asp476Tyr)
c.1552G>T (p.Asp518Tyr)
c.1549G>T (p.Asp517Tyr)
c.1588G>T (p.Asp530Tyr)
c.448-13213G>T (n.448-13213G>T)
c.*93+3216G>T (n.*93+3216G>T)
n.2234G>T
c.1561G>T (p.Asp521Tyr)
n.2157G>T
ClinVar dbSNP gnomAD v3 gnomAD v4
22g.29681540delCA2580099560NF2c.1541del (p.Asp514ValfsTer?)
c.*1170del (n.*1170del)
c.1676del (p.Asp559ValfsTer?)
c.1094del (p.Asp365ValfsTer?)
c.*1558del (n.*1558del)
c.1695del (n.1695del)
c.1427del (p.Asp476ValfsTer?)
c.1553del (p.Asp518ValfsTer?)
c.1550del (p.Asp517ValfsTer?)
c.1589del (p.Asp530ValfsTer?)
c.448-13212del (n.448-13212del)
c.*93+3217del (n.*93+3217del)
n.2235del
c.1562del (p.Asp521ValfsTer?)
n.2158del
ClinVar
22g.29681540A>CCA411150302NF2c.1541A>C (p.Asp514Ala)
c.*1170A>C (n.*1170A>C)
c.1676A>C (p.Asp559Ala)
c.1094A>C (p.Asp365Ala)
c.*1558A>C (n.*1558A>C)
c.1695A>C (n.1695A>C)
c.1427A>C (p.Asp476Ala)
c.1553A>C (p.Asp518Ala)
c.1550A>C (p.Asp517Ala)
c.1589A>C (p.Asp530Ala)
c.448-13212A>C (n.448-13212A>C)
c.*93+3217A>C (n.*93+3217A>C)
n.2235A>C
c.1562A>C (p.Asp521Ala)
n.2158A>C
22g.29681540A>GCA411150304NF2c.1541A>G (p.Asp514Gly)
c.*1170A>G (n.*1170A>G)
c.1676A>G (p.Asp559Gly)
c.1094A>G (p.Asp365Gly)
c.*1558A>G (n.*1558A>G)
c.1695A>G (n.1695A>G)
c.1427A>G (p.Asp476Gly)
c.1553A>G (p.Asp518Gly)
c.1550A>G (p.Asp517Gly)
c.1589A>G (p.Asp530Gly)
c.448-13212A>G (n.448-13212A>G)
c.*93+3217A>G (n.*93+3217A>G)
n.2235A>G
c.1562A>G (p.Asp521Gly)
n.2158A>G
ClinVar
22g.29681540A>TCA411150306NF2c.1541A>T (p.Asp514Val)
c.*1170A>T (n.*1170A>T)
c.1676A>T (p.Asp559Val)
c.1094A>T (p.Asp365Val)
c.*1558A>T (n.*1558A>T)
c.1695A>T (n.1695A>T)
c.1427A>T (p.Asp476Val)
c.1553A>T (p.Asp518Val)
c.1550A>T (p.Asp517Val)
c.1589A>T (p.Asp530Val)
c.448-13212A>T (n.448-13212A>T)
c.*93+3217A>T (n.*93+3217A>T)
n.2235A>T
c.1562A>T (p.Asp521Val)
n.2158A>T
ClinVar
22g.29681541T>ACA411150307NF2c.1542T>A (p.Asp514Glu)
c.*1171T>A (n.*1171T>A)
c.1677T>A (p.Asp559Glu)
c.1095T>A (p.Asp365Glu)
c.*1559T>A (n.*1559T>A)
c.1696T>A (n.1696T>A)
c.1428T>A (p.Asp476Glu)
c.1554T>A (p.Asp518Glu)
c.1551T>A (p.Asp517Glu)
c.1590T>A (p.Asp530Glu)
c.448-13211T>A (n.448-13211T>A)
c.*93+3218T>A (n.*93+3218T>A)
n.2236T>A
c.1563T>A (p.Asp521Glu)
n.2159T>A
22g.29681541T>CCA514190625NF2c.1542T>C (p.Asp514=)
c.*1171T>C (n.*1171T>C)
c.1677T>C (p.Asp559=)
c.1095T>C (p.Asp365=)
c.*1559T>C (n.*1559T>C)
c.1696T>C (n.1696T>C)
c.1428T>C (p.Asp476=)
c.1554T>C (p.Asp518=)
c.1551T>C (p.Asp517=)
c.1590T>C (p.Asp530=)
c.448-13211T>C (n.448-13211T>C)
c.*93+3218T>C (n.*93+3218T>C)
n.2236T>C
c.1563T>C (p.Asp521=)
n.2159T>C
gnomAD v4
22g.29681541T>GCA411150309NF2c.1542T>G (p.Asp514Glu)
c.*1171T>G (n.*1171T>G)
c.1677T>G (p.Asp559Glu)
c.1095T>G (p.Asp365Glu)
c.*1559T>G (n.*1559T>G)
c.1696T>G (n.1696T>G)
c.1428T>G (p.Asp476Glu)
c.1554T>G (p.Asp518Glu)
c.1551T>G (p.Asp517Glu)
c.1590T>G (p.Asp530Glu)
c.448-13211T>G (n.448-13211T>G)
c.*93+3218T>G (n.*93+3218T>G)
n.2236T>G
c.1563T>G (p.Asp521Glu)
n.2159T>G
22g.29681542A=CA2400686835NF2c.1543A= (p.Ile515=)
c.*1172A= (n.*1172A=)
c.1678A= (p.Ile560=)
c.1096A= (p.Ile366=)
c.*1560A= (n.*1560A=)
c.1697A= (n.1697A=)
c.1429A= (p.Ile477=)
c.1555A= (p.Ile519=)
c.1552A= (p.Ile518=)
c.1591A= (p.Ile531=)
c.448-13210A= (n.448-13210A=)
c.*93+3219A= (n.*93+3219A=)
n.2237A=
c.1564A= (p.Ile522=)
n.2160A=
22g.29681542A>CCA411150313NF2c.1543A>C (p.Ile515Leu)
c.*1172A>C (n.*1172A>C)
c.1678A>C (p.Ile560Leu)
c.1096A>C (p.Ile366Leu)
c.*1560A>C (n.*1560A>C)
c.1697A>C (n.1697A>C)
c.1429A>C (p.Ile477Leu)
c.1555A>C (p.Ile519Leu)
c.1552A>C (p.Ile518Leu)
c.1591A>C (p.Ile531Leu)
c.448-13210A>C (n.448-13210A>C)
c.*93+3219A>C (n.*93+3219A>C)
n.2237A>C
c.1564A>C (p.Ile522Leu)
n.2160A>C
22g.29681542A>GCA323120994NF2c.1543A>G (p.Ile515Val)
c.*1172A>G (n.*1172A>G)
c.1678A>G (p.Ile560Val)
c.1096A>G (p.Ile366Val)
c.*1560A>G (n.*1560A>G)
c.1697A>G (n.1697A>G)
c.1429A>G (p.Ile477Val)
c.1555A>G (p.Ile519Val)
c.1552A>G (p.Ile518Val)
c.1591A>G (p.Ile531Val)
c.448-13210A>G (n.448-13210A>G)
c.*93+3219A>G (n.*93+3219A>G)
n.2237A>G
c.1564A>G (p.Ile522Val)
n.2160A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
22g.29681542A>TCA032567NF2c.1543A>T (p.Ile515Phe)
c.*1172A>T (n.*1172A>T)
c.1678A>T (p.Ile560Phe)
c.1096A>T (p.Ile366Phe)
c.*1560A>T (n.*1560A>T)
c.1697A>T (n.1697A>T)
c.1429A>T (p.Ile477Phe)
c.1555A>T (p.Ile519Phe)
c.1552A>T (p.Ile518Phe)
c.1591A>T (p.Ile531Phe)
c.448-13210A>T (n.448-13210A>T)
c.*93+3219A>T (n.*93+3219A>T)
n.2237A>T
c.1564A>T (p.Ile522Phe)
n.2160A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.29681543T>ACA411150315NF2c.1544T>A (p.Ile515Asn)
c.*1173T>A (n.*1173T>A)
c.1679T>A (p.Ile560Asn)
c.1097T>A (p.Ile366Asn)
c.*1561T>A (n.*1561T>A)
c.1698T>A (n.1698T>A)
c.1430T>A (p.Ile477Asn)
c.1556T>A (p.Ile519Asn)
c.1553T>A (p.Ile518Asn)
c.1592T>A (p.Ile531Asn)
c.448-13209T>A (n.448-13209T>A)
c.*93+3220T>A (n.*93+3220T>A)
n.2238T>A
c.1565T>A (p.Ile522Asn)
n.2161T>A
22g.29681543T>CCA411150317NF2c.1544T>C (p.Ile515Thr)
c.*1173T>C (n.*1173T>C)
c.1679T>C (p.Ile560Thr)
c.1097T>C (p.Ile366Thr)
c.*1561T>C (n.*1561T>C)
c.1698T>C (n.1698T>C)
c.1430T>C (p.Ile477Thr)
c.1556T>C (p.Ile519Thr)
c.1553T>C (p.Ile518Thr)
c.1592T>C (p.Ile531Thr)
c.448-13209T>C (n.448-13209T>C)
c.*93+3220T>C (n.*93+3220T>C)
n.2238T>C
c.1565T>C (p.Ile522Thr)
n.2161T>C
22g.29681543T>GCA411150319NF2c.1544T>G (p.Ile515Ser)
c.*1173T>G (n.*1173T>G)
c.1679T>G (p.Ile560Ser)
c.1097T>G (p.Ile366Ser)
c.*1561T>G (n.*1561T>G)
c.1698T>G (n.1698T>G)
c.1430T>G (p.Ile477Ser)
c.1556T>G (p.Ile519Ser)
c.1553T>G (p.Ile518Ser)
c.1592T>G (p.Ile531Ser)
c.448-13209T>G (n.448-13209T>G)
c.*93+3220T>G (n.*93+3220T>G)
n.2238T>G
c.1565T>G (p.Ile522Ser)
n.2161T>G
22g.29681544T>ACA514190627NF2c.1545T>A (p.Ile515=)
c.*1174T>A (n.*1174T>A)
c.1680T>A (p.Ile560=)
c.1098T>A (p.Ile366=)
c.*1562T>A (n.*1562T>A)
c.1699T>A (n.1699T>A)
c.1431T>A (p.Ile477=)
c.1557T>A (p.Ile519=)
c.1554T>A (p.Ile518=)
c.1593T>A (p.Ile531=)
c.448-13208T>A (n.448-13208T>A)
c.*93+3221T>A (n.*93+3221T>A)
n.2239T>A
c.1566T>A (p.Ile522=)
n.2162T>A
22g.29681544T>CCA514190626NF2c.1545T>C (p.Ile515=)
c.*1174T>C (n.*1174T>C)
c.1680T>C (p.Ile560=)
c.1098T>C (p.Ile366=)
c.*1562T>C (n.*1562T>C)
c.1699T>C (n.1699T>C)
c.1431T>C (p.Ile477=)
c.1557T>C (p.Ile519=)
c.1554T>C (p.Ile518=)
c.1593T>C (p.Ile531=)
c.448-13208T>C (n.448-13208T>C)
c.*93+3221T>C (n.*93+3221T>C)
n.2239T>C
c.1566T>C (p.Ile522=)
n.2162T>C
22g.29681544T>GCA411150321NF2c.1545T>G (p.Ile515Met)
c.*1174T>G (n.*1174T>G)
c.1680T>G (p.Ile560Met)
c.1098T>G (p.Ile366Met)
c.*1562T>G (n.*1562T>G)
c.1699T>G (n.1699T>G)
c.1431T>G (p.Ile477Met)
c.1557T>G (p.Ile519Met)
c.1554T>G (p.Ile518Met)
c.1593T>G (p.Ile531Met)
c.448-13208T>G (n.448-13208T>G)
c.*93+3221T>G (n.*93+3221T>G)
n.2239T>G
c.1566T>G (p.Ile522Met)
n.2162T>G
22g.29681545C>ACA411150323NF2c.1546C>A (p.Leu516Met)
c.*1175C>A (n.*1175C>A)
c.1681C>A (p.Leu561Met)
c.1099C>A (p.Leu367Met)
c.*1563C>A (n.*1563C>A)
c.1700C>A (n.1700C>A)
c.1432C>A (p.Leu478Met)
c.1558C>A (p.Leu520Met)
c.1555C>A (p.Leu519Met)
c.1594C>A (p.Leu532Met)
c.448-13207C>A (n.448-13207C>A)
c.*93+3222C>A (n.*93+3222C>A)
n.2240C>A
c.1567C>A (p.Leu523Met)
n.2163C>A
22g.29681545C>GCA411150325NF2c.1546C>G (p.Leu516Val)
c.*1175C>G (n.*1175C>G)
c.1681C>G (p.Leu561Val)
c.1099C>G (p.Leu367Val)
c.*1563C>G (n.*1563C>G)
c.1700C>G (n.1700C>G)
c.1432C>G (p.Leu478Val)
c.1558C>G (p.Leu520Val)
c.1555C>G (p.Leu519Val)
c.1594C>G (p.Leu532Val)
c.448-13207C>G (n.448-13207C>G)
c.*93+3222C>G (n.*93+3222C>G)
n.2240C>G
c.1567C>G (p.Leu523Val)
n.2163C>G
22g.29681545C>TCA514190628NF2c.1546C>T (p.Leu516=)
c.*1175C>T (n.*1175C>T)
c.1681C>T (p.Leu561=)
c.1099C>T (p.Leu367=)
c.*1563C>T (n.*1563C>T)
c.1700C>T (n.1700C>T)
c.1432C>T (p.Leu478=)
c.1558C>T (p.Leu520=)
c.1555C>T (p.Leu519=)
c.1594C>T (p.Leu532=)
c.448-13207C>T (n.448-13207C>T)
c.*93+3222C>T (n.*93+3222C>T)
n.2240C>T
c.1567C>T (p.Leu523=)
n.2163C>T
22g.29681546T>ACA411150331NF2c.1547T>A (p.Leu516Gln)
c.*1176T>A (n.*1176T>A)
c.1682T>A (p.Leu561Gln)
c.1100T>A (p.Leu367Gln)
c.*1564T>A (n.*1564T>A)
c.1701T>A (n.1701T>A)
c.1433T>A (p.Leu478Gln)
c.1559T>A (p.Leu520Gln)
c.1556T>A (p.Leu519Gln)
c.1595T>A (p.Leu532Gln)
c.448-13206T>A (n.448-13206T>A)
c.*93+3223T>A (n.*93+3223T>A)
n.2241T>A
c.1568T>A (p.Leu523Gln)
n.2164T>A
22g.29681546T>CCA411150329NF2c.1547T>C (p.Leu516Pro)
c.*1176T>C (n.*1176T>C)
c.1682T>C (p.Leu561Pro)
c.1100T>C (p.Leu367Pro)
c.*1564T>C (n.*1564T>C)
c.1701T>C (n.1701T>C)
c.1433T>C (p.Leu478Pro)
c.1559T>C (p.Leu520Pro)
c.1556T>C (p.Leu519Pro)
c.1595T>C (p.Leu532Pro)
c.448-13206T>C (n.448-13206T>C)
c.*93+3223T>C (n.*93+3223T>C)
n.2241T>C
c.1568T>C (p.Leu523Pro)
n.2164T>C
22g.29681546T>GCA411150327NF2c.1547T>G (p.Leu516Arg)
c.*1176T>G (n.*1176T>G)
c.1682T>G (p.Leu561Arg)
c.1100T>G (p.Leu367Arg)
c.*1564T>G (n.*1564T>G)
c.1701T>G (n.1701T>G)
c.1433T>G (p.Leu478Arg)
c.1559T>G (p.Leu520Arg)
c.1556T>G (p.Leu519Arg)
c.1595T>G (p.Leu532Arg)
c.448-13206T>G (n.448-13206T>G)
c.*93+3223T>G (n.*93+3223T>G)
n.2241T>G
c.1568T>G (p.Leu523Arg)
n.2164T>G
22g.29681547G>ACA032580NF2c.1548G>A (p.Leu516=)
c.*1177G>A (n.*1177G>A)
c.1683G>A (p.Leu561=)
c.1101G>A (p.Leu367=)
c.*1565G>A (n.*1565G>A)
c.1702G>A (n.1702G>A)
c.1434G>A (p.Leu478=)
c.1560G>A (p.Leu520=)
c.1557G>A (p.Leu519=)
c.1596G>A (p.Leu532=)
c.448-13205G>A (n.448-13205G>A)
c.*93+3224G>A (n.*93+3224G>A)
n.2242G>A
c.1569G>A (p.Leu523=)
n.2165G>A
ClinVar dbSNP ExAC gnomAD v2
22g.29681547G>CCA514190629NF2c.1548G>C (p.Leu516=)
c.*1177G>C (n.*1177G>C)
c.1683G>C (p.Leu561=)
c.1101G>C (p.Leu367=)
c.*1565G>C (n.*1565G>C)
c.1702G>C (n.1702G>C)
c.1434G>C (p.Leu478=)
c.1560G>C (p.Leu520=)
c.1557G>C (p.Leu519=)
c.1596G>C (p.Leu532=)
c.448-13205G>C (n.448-13205G>C)
c.*93+3224G>C (n.*93+3224G>C)
n.2242G>C
c.1569G>C (p.Leu523=)
n.2165G>C
22g.29681547G=CA2400686836NF2c.1548G= (p.Leu516=)
c.*1177G= (n.*1177G=)
c.1683G= (p.Leu561=)
c.1101G= (p.Leu367=)
c.*1565G= (n.*1565G=)
c.1702G= (n.1702G=)
c.1434G= (p.Leu478=)
c.1560G= (p.Leu520=)
c.1557G= (p.Leu519=)
c.1596G= (p.Leu532=)
c.448-13205G= (n.448-13205G=)
c.*93+3224G= (n.*93+3224G=)
n.2242G=
c.1569G= (p.Leu523=)
n.2165G=
22g.29681547G>TCA514190630NF2c.1548G>T (p.Leu516=)
c.*1177G>T (n.*1177G>T)
c.1683G>T (p.Leu561=)
c.1101G>T (p.Leu367=)
c.*1565G>T (n.*1565G>T)
c.1702G>T (n.1702G>T)
c.1434G>T (p.Leu478=)
c.1560G>T (p.Leu520=)
c.1557G>T (p.Leu519=)
c.1596G>T (p.Leu532=)
c.448-13205G>T (n.448-13205G>T)
c.*93+3224G>T (n.*93+3224G>T)
n.2242G>T
c.1569G>T (p.Leu523=)
n.2165G>T
ClinVar dbSNP
22g.29681548C>ACA411150336NF2c.1549C>A (p.His517Asn)
c.*1178C>A (n.*1178C>A)
c.1684C>A (p.His562Asn)
c.1102C>A (p.His368Asn)
c.*1566C>A (n.*1566C>A)
c.1703C>A (n.1703C>A)
c.1435C>A (p.His479Asn)
c.1561C>A (p.His521Asn)
c.1558C>A (p.His520Asn)
c.1597C>A (p.His533Asn)
c.448-13204C>A (n.448-13204C>A)
c.*93+3225C>A (n.*93+3225C>A)
n.2243C>A
c.1570C>A (p.His524Asn)
n.2166C>A
ClinVar
22g.29681548C=CA2400686837NF2c.1549C= (p.His517=)
c.*1178C= (n.*1178C=)
c.1684C= (p.His562=)
c.1102C= (p.His368=)
c.*1566C= (n.*1566C=)
c.1703C= (n.1703C=)
c.1435C= (p.His479=)
c.1561C= (p.His521=)
c.1558C= (p.His520=)
c.1597C= (p.His533=)
c.448-13204C= (n.448-13204C=)
c.*93+3225C= (n.*93+3225C=)
n.2243C=
c.1570C= (p.His524=)
n.2166C=
22g.29681548C>GCA411150334NF2c.1549C>G (p.His517Asp)
c.*1178C>G (n.*1178C>G)
c.1684C>G (p.His562Asp)
c.1102C>G (p.His368Asp)
c.*1566C>G (n.*1566C>G)
c.1703C>G (n.1703C>G)
c.1435C>G (p.His479Asp)
c.1561C>G (p.His521Asp)
c.1558C>G (p.His520Asp)
c.1597C>G (p.His533Asp)
c.448-13204C>G (n.448-13204C>G)
c.*93+3225C>G (n.*93+3225C>G)
n.2243C>G
c.1570C>G (p.His524Asp)
n.2166C>G
22g.29681548C>TCA032603NF2c.1549C>T (p.His517Tyr)
c.*1178C>T (n.*1178C>T)
c.1684C>T (p.His562Tyr)
c.1102C>T (p.His368Tyr)
c.*1566C>T (n.*1566C>T)
c.1703C>T (n.1703C>T)
c.1435C>T (p.His479Tyr)
c.1561C>T (p.His521Tyr)
c.1558C>T (p.His520Tyr)
c.1597C>T (p.His533Tyr)
c.448-13204C>T (n.448-13204C>T)
c.*93+3225C>T (n.*93+3225C>T)
n.2243C>T
c.1570C>T (p.His524Tyr)
n.2166C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.29681549A=CA2400686838NF2c.1550A= (p.His517=)
c.*1179A= (n.*1179A=)
c.1685A= (p.His562=)
c.1103A= (p.His368=)
c.*1567A= (n.*1567A=)
c.1704A= (n.1704A=)
c.1436A= (p.His479=)
c.1562A= (p.His521=)
c.1559A= (p.His520=)
c.1598A= (p.His533=)
c.448-13203A= (n.448-13203A=)
c.*93+3226A= (n.*93+3226A=)
n.2244A=
c.1571A= (p.His524=)
n.2167A=
22g.29681549A>CCA411150338NF2c.1550A>C (p.His517Pro)
c.*1179A>C (n.*1179A>C)
c.1685A>C (p.His562Pro)
c.1103A>C (p.His368Pro)
c.*1567A>C (n.*1567A>C)
c.1704A>C (n.1704A>C)
c.1436A>C (p.His479Pro)
c.1562A>C (p.His521Pro)
c.1559A>C (p.His520Pro)
c.1598A>C (p.His533Pro)
c.448-13203A>C (n.448-13203A>C)
c.*93+3226A>C (n.*93+3226A>C)
n.2244A>C
c.1571A>C (p.His524Pro)
n.2167A>C
22g.29681549A>GCA411150339NF2c.1550A>G (p.His517Arg)
c.*1179A>G (n.*1179A>G)
c.1685A>G (p.His562Arg)
c.1103A>G (p.His368Arg)
c.*1567A>G (n.*1567A>G)
c.1704A>G (n.1704A>G)
c.1436A>G (p.His479Arg)
c.1562A>G (p.His521Arg)
c.1559A>G (p.His520Arg)
c.1598A>G (p.His533Arg)
c.448-13203A>G (n.448-13203A>G)
c.*93+3226A>G (n.*93+3226A>G)
n.2244A>G
c.1571A>G (p.His524Arg)
n.2167A>G
ClinVar dbSNP
22g.29681549A>TCA10583925NF2c.1550A>T (p.His517Leu)
c.*1179A>T (n.*1179A>T)
c.1685A>T (p.His562Leu)
c.1103A>T (p.His368Leu)
c.*1567A>T (n.*1567A>T)
c.1704A>T (n.1704A>T)
c.1436A>T (p.His479Leu)
c.1562A>T (p.His521Leu)
c.1559A>T (p.His520Leu)
c.1598A>T (p.His533Leu)
c.448-13203A>T (n.448-13203A>T)
c.*93+3226A>T (n.*93+3226A>T)
n.2244A>T
c.1571A>T (p.His524Leu)
n.2167A>T
ClinVar dbSNP gnomAD v4
22g.29681550C>ACA411150342NF2c.1551C>A (p.His517Gln)
c.*1180C>A (n.*1180C>A)
c.1686C>A (p.His562Gln)
c.1104C>A (p.His368Gln)
c.*1568C>A (n.*1568C>A)
c.1705C>A (n.1705C>A)
c.1437C>A (p.His479Gln)
c.1563C>A (p.His521Gln)
c.1560C>A (p.His520Gln)
c.1599C>A (p.His533Gln)
c.448-13202C>A (n.448-13202C>A)
c.*93+3227C>A (n.*93+3227C>A)
n.2245C>A
c.1572C>A (p.His524Gln)
n.2168C>A
22g.29681550C=CA2400686839NF2c.1551C= (p.His517=)
c.*1180C= (n.*1180C=)
c.1686C= (p.His562=)
c.1104C= (p.His368=)
c.*1568C= (n.*1568C=)
c.1705C= (n.1705C=)
c.1437C= (p.His479=)
c.1563C= (p.His521=)
c.1560C= (p.His520=)
c.1599C= (p.His533=)
c.448-13202C= (n.448-13202C=)
c.*93+3227C= (n.*93+3227C=)
n.2245C=
c.1572C= (p.His524=)
n.2168C=
22g.29681550C>GCA411150344NF2c.1551C>G (p.His517Gln)
c.*1180C>G (n.*1180C>G)
c.1686C>G (p.His562Gln)
c.1104C>G (p.His368Gln)
c.*1568C>G (n.*1568C>G)
c.1705C>G (n.1705C>G)
c.1437C>G (p.His479Gln)
c.1563C>G (p.His521Gln)
c.1560C>G (p.His520Gln)
c.1599C>G (p.His533Gln)
c.448-13202C>G (n.448-13202C>G)
c.*93+3227C>G (n.*93+3227C>G)
n.2245C>G
c.1572C>G (p.His524Gln)
n.2168C>G
22g.29681550C>TCA514190631NF2c.1551C>T (p.His517=)
c.*1180C>T (n.*1180C>T)
c.1686C>T (p.His562=)
c.1104C>T (p.His368=)
c.*1568C>T (n.*1568C>T)
c.1705C>T (n.1705C>T)
c.1437C>T (p.His479=)
c.1563C>T (p.His521=)
c.1560C>T (p.His520=)
c.1599C>T (p.His533=)
c.448-13202C>T (n.448-13202C>T)
c.*93+3227C>T (n.*93+3227C>T)
n.2245C>T
c.1572C>T (p.His524=)
n.2168C>T
dbSNP
22g.29681551A>CCA411150346NF2c.1552A>C (p.Asn518His)
c.*1181A>C (n.*1181A>C)
c.1687A>C (p.Asn563His)
c.1105A>C (p.Asn369His)
c.*1569A>C (n.*1569A>C)
c.1706A>C (n.1706A>C)
c.1438A>C (p.Asn480His)
c.1564A>C (p.Asn522His)
c.1561A>C (p.Asn521His)
c.1600A>C (p.Asn534His)
c.448-13201A>C (n.448-13201A>C)
c.*93+3228A>C (n.*93+3228A>C)
n.2246A>C
c.1573A>C (p.Asn525His)
n.2169A>C
22g.29681551A>GCA411150348NF2c.1552A>G (p.Asn518Asp)
c.*1181A>G (n.*1181A>G)
c.1687A>G (p.Asn563Asp)
c.1105A>G (p.Asn369Asp)
c.*1569A>G (n.*1569A>G)
c.1706A>G (n.1706A>G)
c.1438A>G (p.Asn480Asp)
c.1564A>G (p.Asn522Asp)
c.1561A>G (p.Asn521Asp)
c.1600A>G (p.Asn534Asp)
c.448-13201A>G (n.448-13201A>G)
c.*93+3228A>G (n.*93+3228A>G)
n.2246A>G
c.1573A>G (p.Asn525Asp)
n.2169A>G
ClinVar COSMIC COSMIC
22g.29681551A>TCA411150349NF2c.1552A>T (p.Asn518Tyr)
c.*1181A>T (n.*1181A>T)
c.1687A>T (p.Asn563Tyr)
c.1105A>T (p.Asn369Tyr)
c.*1569A>T (n.*1569A>T)
c.1706A>T (n.1706A>T)
c.1438A>T (p.Asn480Tyr)
c.1564A>T (p.Asn522Tyr)
c.1561A>T (p.Asn521Tyr)
c.1600A>T (p.Asn534Tyr)
c.448-13201A>T (n.448-13201A>T)
c.*93+3228A>T (n.*93+3228A>T)
n.2246A>T
c.1573A>T (p.Asn525Tyr)
n.2169A>T
22g.29681552A=CA2400686840NF2c.1553A= (p.Asn518=)
c.*1182A= (n.*1182A=)
c.1688A= (p.Asn563=)
c.1106A= (p.Asn369=)
c.*1570A= (n.*1570A=)
c.1707A= (n.1707A=)
c.1439A= (p.Asn480=)
c.1565A= (p.Asn522=)
c.1562A= (p.Asn521=)
c.1601A= (p.Asn534=)
c.448-13200A= (n.448-13200A=)
c.*93+3229A= (n.*93+3229A=)
n.2247A=
c.1574A= (p.Asn525=)
n.2170A=
22g.29681552A>CCA411150351NF2c.1553A>C (p.Asn518Thr)
c.*1182A>C (n.*1182A>C)
c.1688A>C (p.Asn563Thr)
c.1106A>C (p.Asn369Thr)
c.*1570A>C (n.*1570A>C)
c.1707A>C (n.1707A>C)
c.1439A>C (p.Asn480Thr)
c.1565A>C (p.Asn522Thr)
c.1562A>C (p.Asn521Thr)
c.1601A>C (p.Asn534Thr)
c.448-13200A>C (n.448-13200A>C)
c.*93+3229A>C (n.*93+3229A>C)
n.2247A>C
c.1574A>C (p.Asn525Thr)
n.2170A>C
22g.29681552A>GCA323121011NF2c.1553A>G (p.Asn518Ser)
c.*1182A>G (n.*1182A>G)
c.1688A>G (p.Asn563Ser)
c.1106A>G (p.Asn369Ser)
c.*1570A>G (n.*1570A>G)
c.1707A>G (n.1707A>G)
c.1439A>G (p.Asn480Ser)
c.1565A>G (p.Asn522Ser)
c.1562A>G (p.Asn521Ser)
c.1601A>G (p.Asn534Ser)
c.448-13200A>G (n.448-13200A>G)
c.*93+3229A>G (n.*93+3229A>G)
n.2247A>G
c.1574A>G (p.Asn525Ser)
n.2170A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
22g.29681552A>TCA411150354NF2c.1553A>T (p.Asn518Ile)
c.*1182A>T (n.*1182A>T)
c.1688A>T (p.Asn563Ile)
c.1106A>T (p.Asn369Ile)
c.*1570A>T (n.*1570A>T)
c.1707A>T (n.1707A>T)
c.1439A>T (p.Asn480Ile)
c.1565A>T (p.Asn522Ile)
c.1562A>T (p.Asn521Ile)
c.1601A>T (p.Asn534Ile)
c.448-13200A>T (n.448-13200A>T)
c.*93+3229A>T (n.*93+3229A>T)
n.2247A>T
c.1574A>T (p.Asn525Ile)
n.2170A>T
22g.29681553T>ACA411150358NF2c.1554T>A (p.Asn518Lys)
c.*1183T>A (n.*1183T>A)
c.1689T>A (p.Asn563Lys)
c.1107T>A (p.Asn369Lys)
c.*1571T>A (n.*1571T>A)
c.1708T>A (n.1708T>A)
c.1440T>A (p.Asn480Lys)
c.1566T>A (p.Asn522Lys)
c.1563T>A (p.Asn521Lys)
c.1602T>A (p.Asn534Lys)
c.448-13199T>A (n.448-13199T>A)
c.*93+3230T>A (n.*93+3230T>A)
n.2248T>A
c.1575T>A (p.Asn525Lys)
n.2171T>A
22g.29681553T>CCA514190632NF2c.1554T>C (p.Asn518=)
c.*1183T>C (n.*1183T>C)
c.1689T>C (p.Asn563=)
c.1107T>C (p.Asn369=)
c.*1571T>C (n.*1571T>C)
c.1708T>C (n.1708T>C)
c.1440T>C (p.Asn480=)
c.1566T>C (p.Asn522=)
c.1563T>C (p.Asn521=)
c.1602T>C (p.Asn534=)
c.448-13199T>C (n.448-13199T>C)
c.*93+3230T>C (n.*93+3230T>C)
n.2248T>C
c.1575T>C (p.Asn525=)
n.2171T>C
ClinVar
22g.29681553T>GCA411150356NF2c.1554T>G (p.Asn518Lys)
c.*1183T>G (n.*1183T>G)
c.1689T>G (p.Asn563Lys)
c.1107T>G (p.Asn369Lys)
c.*1571T>G (n.*1571T>G)
c.1708T>G (n.1708T>G)
c.1440T>G (p.Asn480Lys)
c.1566T>G (p.Asn522Lys)
c.1563T>G (p.Asn521Lys)
c.1602T>G (p.Asn534Lys)
c.448-13199T>G (n.448-13199T>G)
c.*93+3230T>G (n.*93+3230T>G)
n.2248T>G
c.1575T>G (p.Asn525Lys)
n.2171T>G
gnomAD v4
22g.29681554G>ACA411150359NF2c.1555G>A (p.Glu519Lys)
c.*1184G>A (n.*1184G>A)
c.1690G>A (p.Glu564Lys)
c.1108G>A (p.Glu370Lys)
c.*1572G>A (n.*1572G>A)
c.1709G>A (n.1709G>A)
c.1441G>A (p.Glu481Lys)
c.1567G>A (p.Glu523Lys)
c.1564G>A (p.Glu522Lys)
c.1603G>A (p.Glu535Lys)
c.448-13198G>A (n.448-13198G>A)
c.*93+3231G>A (n.*93+3231G>A)
n.2249G>A
c.1576G>A (p.Glu526Lys)
n.2172G>A
ClinVar
22g.29681554G>CCA411150360NF2c.1555G>C (p.Glu519Gln)
c.*1184G>C (n.*1184G>C)
c.1690G>C (p.Glu564Gln)
c.1108G>C (p.Glu370Gln)
c.*1572G>C (n.*1572G>C)
c.1709G>C (n.1709G>C)
c.1441G>C (p.Glu481Gln)
c.1567G>C (p.Glu523Gln)
c.1564G>C (p.Glu522Gln)
c.1603G>C (p.Glu535Gln)
c.448-13198G>C (n.448-13198G>C)
c.*93+3231G>C (n.*93+3231G>C)
n.2249G>C
c.1576G>C (p.Glu526Gln)
n.2172G>C
22g.29681554G>TCA411150361NF2c.1555G>T (p.Glu519Ter)
c.*1184G>T (n.*1184G>T)
c.1690G>T (p.Glu564Ter)
c.1108G>T (p.Glu370Ter)
c.*1572G>T (n.*1572G>T)
c.1709G>T (n.1709G>T)
c.1441G>T (p.Glu481Ter)
c.1567G>T (p.Glu523Ter)
c.1564G>T (p.Glu522Ter)
c.1603G>T (p.Glu535Ter)
c.448-13198G>T (n.448-13198G>T)
c.*93+3231G>T (n.*93+3231G>T)
n.2249G>T
c.1576G>T (p.Glu526Ter)
n.2172G>T
gnomAD v4
22g.29681554_29681556delCA2656032906NF2c.1555_1557del (p.Glu519del)
c.*1184_*1186del (n.*1184_*1186del)
c.1690_1692del (p.Glu564del)
c.1108_1110del (p.Glu370del)
c.*1572_*1574del (n.*1572_*1574del)
c.1709_1711del (n.1709_1711del)
c.1441_1443del (p.Glu481del)
c.1567_1569del (p.Glu523del)
c.1564_1566del (p.Glu522del)
c.1603_1605del (p.Glu535del)
c.448-13198_448-13196del (n.448-13198_448-13196del)
c.*93+3231_*93+3233del (n.*93+3231_*93+3233del)
n.2249_2251del
c.1576_1578del (p.Glu526del)
n.2172_2174del
gnomAD v4
22g.29681555A=CA2400686841NF2c.1556A= (p.Glu519=)
c.*1185A= (n.*1185A=)
c.1691A= (p.Glu564=)
c.1109A= (p.Glu370=)
c.*1573A= (n.*1573A=)
c.1710A= (n.1710A=)
c.1442A= (p.Glu481=)
c.1568A= (p.Glu523=)
c.1565A= (p.Glu522=)
c.1604A= (p.Glu535=)
c.448-13197A= (n.448-13197A=)
c.*93+3232A= (n.*93+3232A=)
n.2250A=
c.1577A= (p.Glu526=)
n.2173A=
22g.29681555A>CCA411150362NF2c.1556A>C (p.Glu519Ala)
c.*1185A>C (n.*1185A>C)
c.1691A>C (p.Glu564Ala)
c.1109A>C (p.Glu370Ala)
c.*1573A>C (n.*1573A>C)
c.1710A>C (n.1710A>C)
c.1442A>C (p.Glu481Ala)
c.1568A>C (p.Glu523Ala)
c.1565A>C (p.Glu522Ala)
c.1604A>C (p.Glu535Ala)
c.448-13197A>C (n.448-13197A>C)
c.*93+3232A>C (n.*93+3232A>C)
n.2250A>C
c.1577A>C (p.Glu526Ala)
n.2173A>C
22g.29681555A>GCA411150364NF2c.1556A>G (p.Glu519Gly)
c.*1185A>G (n.*1185A>G)
c.1691A>G (p.Glu564Gly)
c.1109A>G (p.Glu370Gly)
c.*1573A>G (n.*1573A>G)
c.1710A>G (n.1710A>G)
c.1442A>G (p.Glu481Gly)
c.1568A>G (p.Glu523Gly)
c.1565A>G (p.Glu522Gly)
c.1604A>G (p.Glu535Gly)
c.448-13197A>G (n.448-13197A>G)
c.*93+3232A>G (n.*93+3232A>G)
n.2250A>G
c.1577A>G (p.Glu526Gly)
n.2173A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
22g.29681555A>TCA411150366NF2c.1556A>T (p.Glu519Val)
c.*1185A>T (n.*1185A>T)
c.1691A>T (p.Glu564Val)
c.1109A>T (p.Glu370Val)
c.*1573A>T (n.*1573A>T)
c.1710A>T (n.1710A>T)
c.1442A>T (p.Glu481Val)
c.1568A>T (p.Glu523Val)
c.1565A>T (p.Glu522Val)
c.1604A>T (p.Glu535Val)
c.448-13197A>T (n.448-13197A>T)
c.*93+3232A>T (n.*93+3232A>T)
n.2250A>T
c.1577A>T (p.Glu526Val)
n.2173A>T
22g.29681556G>ACA514190634NF2c.1557G>A (p.Glu519=)
c.*1186G>A (n.*1186G>A)
c.1692G>A (p.Glu564=)
c.1110G>A (p.Glu370=)
c.*1574G>A (n.*1574G>A)
c.1711G>A (n.1711G>A)
c.1443G>A (p.Glu481=)
c.1569G>A (p.Glu523=)
c.1566G>A (p.Glu522=)
c.1605G>A (p.Glu535=)
c.448-13196G>A (n.448-13196G>A)
c.*93+3233G>A (n.*93+3233G>A)
n.2251G>A
c.1578G>A (p.Glu526=)
n.2174G>A
ClinVar dbSNP
22g.29681556G>CCA411150368NF2c.1557G>C (p.Glu519Asp)
c.*1186G>C (n.*1186G>C)
c.1692G>C (p.Glu564Asp)
c.1110G>C (p.Glu370Asp)
c.*1574G>C (n.*1574G>C)
c.1711G>C (n.1711G>C)
c.1443G>C (p.Glu481Asp)
c.1569G>C (p.Glu523Asp)
c.1566G>C (p.Glu522Asp)
c.1605G>C (p.Glu535Asp)
c.448-13196G>C (n.448-13196G>C)
c.*93+3233G>C (n.*93+3233G>C)
n.2251G>C
c.1578G>C (p.Glu526Asp)
n.2174G>C
dbSNP
22g.29681556G=CA2400686842NF2c.1557G= (p.Glu519=)
c.*1186G= (n.*1186G=)
c.1692G= (p.Glu564=)
c.1110G= (p.Glu370=)
c.*1574G= (n.*1574G=)
c.1711G= (n.1711G=)
c.1443G= (p.Glu481=)
c.1569G= (p.Glu523=)
c.1566G= (p.Glu522=)
c.1605G= (p.Glu535=)
c.448-13196G= (n.448-13196G=)
c.*93+3233G= (n.*93+3233G=)
n.2251G=
c.1578G= (p.Glu526=)
n.2174G=
22g.29681556G>TCA411150369NF2c.1557G>T (p.Glu519Asp)
c.*1186G>T (n.*1186G>T)
c.1692G>T (p.Glu564Asp)
c.1110G>T (p.Glu370Asp)
c.*1574G>T (n.*1574G>T)
c.1711G>T (n.1711G>T)
c.1443G>T (p.Glu481Asp)
c.1569G>T (p.Glu523Asp)
c.1566G>T (p.Glu522Asp)
c.1605G>T (p.Glu535Asp)
c.448-13196G>T (n.448-13196G>T)
c.*93+3233G>T (n.*93+3233G>T)
n.2251G>T
c.1578G>T (p.Glu526Asp)
n.2174G>T
22g.29681557A=CA2400686843NF2c.1558A= (p.Asn520=)
c.*1187A= (n.*1187A=)
c.1693A= (p.Asn565=)
c.1111A= (p.Asn371=)
c.*1575A= (n.*1575A=)
c.1712A= (n.1712A=)
c.1444A= (p.Asn482=)
c.1570A= (p.Asn524=)
c.1567A= (p.Asn523=)
c.1606A= (p.Asn536=)
c.448-13195A= (n.448-13195A=)
c.*93+3234A= (n.*93+3234A=)
n.2252A=
c.1579A= (p.Asn527=)
n.2175A=
22g.29681557A>CCA411150370NF2c.1558A>C (p.Asn520His)
c.*1187A>C (n.*1187A>C)
c.1693A>C (p.Asn565His)
c.1111A>C (p.Asn371His)
c.*1575A>C (n.*1575A>C)
c.1712A>C (n.1712A>C)
c.1444A>C (p.Asn482His)
c.1570A>C (p.Asn524His)
c.1567A>C (p.Asn523His)
c.1606A>C (p.Asn536His)
c.448-13195A>C (n.448-13195A>C)
c.*93+3234A>C (n.*93+3234A>C)
n.2252A>C
c.1579A>C (p.Asn527His)
n.2175A>C
22g.29681557A>GCA411150372NF2c.1558A>G (p.Asn520Asp)
c.*1187A>G (n.*1187A>G)
c.1693A>G (p.Asn565Asp)
c.1111A>G (p.Asn371Asp)
c.*1575A>G (n.*1575A>G)
c.1712A>G (n.1712A>G)
c.1444A>G (p.Asn482Asp)
c.1570A>G (p.Asn524Asp)
c.1567A>G (p.Asn523Asp)
c.1606A>G (p.Asn536Asp)
c.448-13195A>G (n.448-13195A>G)
c.*93+3234A>G (n.*93+3234A>G)
n.2252A>G
c.1579A>G (p.Asn527Asp)
n.2175A>G
22g.29681557A>TCA411150374NF2c.1558A>T (p.Asn520Tyr)
c.*1187A>T (n.*1187A>T)
c.1693A>T (p.Asn565Tyr)
c.1111A>T (p.Asn371Tyr)
c.*1575A>T (n.*1575A>T)
c.1712A>T (n.1712A>T)
c.1444A>T (p.Asn482Tyr)
c.1570A>T (p.Asn524Tyr)
c.1567A>T (p.Asn523Tyr)
c.1606A>T (p.Asn536Tyr)
c.448-13195A>T (n.448-13195A>T)
c.*93+3234A>T (n.*93+3234A>T)
n.2252A>T
c.1579A>T (p.Asn527Tyr)
n.2175A>T
ClinVar dbSNP

Number of alleles fetched