Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.29681439_29681601del | CA645601219 | NF2 | c.1440_1602del c.*1069_*1231del c.1575_1737del c.993_1155del c.*1457_*1619del c.1594_1756del c.1326_1488del c.1452_1614del c.1449_1611del c.1488_1650del c.448-13313_448-13151del (n.448-13313_448-13151del) c.*93+3116_*93+3278del (n.*93+3116_*93+3278del) n.2134_2296del c.1461_1623del n.2057_2219del | COSMIC |
22 | g.29681458A>C | CA411150031 | NF2 | c.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 | |
22 | g.29681458A>G | CA411150032 | NF2 | c.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 |
22 | g.29681458A>T | CA411150033 | NF2 | c.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 | |
22 | g.29681459G>A | CA411150034 | NF2 | c.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 |
22 | g.29681459G>C | CA411150035 | NF2 | c.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 | |
22 | g.29681459G>T | CA411150036 | NF2 | c.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 | |
22 | g.29681460C>A | CA411150037 | NF2 | c.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 |
22 | g.29681460C>G | CA411150038 | NF2 | c.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 | |
22 | g.29681460C>T | CA514190348 | NF2 | c.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 |
22 | g.29681461A>C | CA411150039 | NF2 | c.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 | |
22 | g.29681461A>G | CA411150041 | NF2 | c.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 | |
22 | g.29681461A>T | CA411150040 | NF2 | c.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 | |
22 | g.29681462A= | CA2400686804 | NF2 | c.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= | |
22 | g.29681462A>C | CA411150042 | NF2 | c.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 | |
22 | g.29681462A>G | CA032355 | NF2 | c.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 |
22 | g.29681462A>T | CA411150043 | NF2 | c.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 | |
22 | g.29681463del | CA2695230523 | NF2 | c.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 | |
22 | g.29681463G>A | CA514190353 | NF2 | c.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 |
22 | g.29681463G>C | CA411150044 | NF2 | c.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 | |
22 | g.29681463G>T | CA411150045 | NF2 | c.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 | |
22 | g.29681463_29681466del | CA2695230524 | NF2 | c.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 | |
22 | g.29681464del | CA514190355 | NF2 | c.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 |
22 | g.29681464C>A | CA411150046 | NF2 | c.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 | |
22 | g.29681464C= | CA2400686805 | NF2 | c.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= | |
22 | g.29681464C>G | CA411150047 | NF2 | c.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 | |
22 | g.29681464C>T | CA032373 | NF2 | c.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 |
22 | g.29681465A>C | CA411150048 | NF2 | c.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 | |
22 | g.29681465A>G | CA411150049 | NF2 | c.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 |
22 | g.29681465A>T | CA411150050 | NF2 | c.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 |
22 | g.29681466T>A | CA411150051 | NF2 | c.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 | |
22 | g.29681466T>C | CA514190356 | NF2 | c.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 | |
22 | g.29681466T>G | CA411150052 | NF2 | c.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 | |
22 | g.29681467C>A | CA411150053 | NF2 | c.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 | |
22 | g.29681467C>G | CA411150054 | NF2 | c.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 |
22 | g.29681467C>T | CA514190357 | NF2 | c.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 | |
22 | g.29681468T>A | CA411150055 | NF2 | c.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 | |
22 | g.29681468T>C | CA021356 | NF2 | c.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 |
22 | g.29681468T>G | CA411150056 | NF2 | c.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 | |
22 | g.29681468T= | CA2400686806 | NF2 | c.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= | |
22 | g.29681469G>A | CA514190359 | NF2 | c.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 |
22 | g.29681469G>C | CA514190360 | NF2 | c.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 | |
22 | g.29681469G= | CA2400686807 | NF2 | c.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= | |
22 | g.29681469G>T | CA514190361 | NF2 | c.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 |
22 | g.29681473_29681478del | CA2573157892 | NF2 | c.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 |
22 | g.29681470C>A | CA411150057 | NF2 | c.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 | |
22 | g.29681470C>G | CA411150058 | NF2 | c.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 | |
22 | g.29681470C>T | CA411150059 | NF2 | c.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 |
22 | g.29681471A>C | CA411150062 | NF2 | c.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 | |
22 | g.29681471A>G | CA411150060 | NF2 | c.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 | |
22 | g.29681471A>T | CA411150061 | NF2 | c.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 | |
22 | g.29681471_29681474delinsCT | CA2695230525 | NF2 | c.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 | |
22 | g.29681472G>A | CA514190363 | NF2 | c.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 |
22 | g.29681472G>C | CA411150063 | NF2 | c.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 |
22 | g.29681472G>T | CA411150064 | NF2 | c.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 | |
22 | g.29681473del | CA2695230526 | NF2 | c.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 | |
22 | g.29681473G>A | CA411150065 | NF2 | c.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 |
22 | g.29681473G>C | CA411150066 | NF2 | c.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 |
22 | g.29681473G>T | CA411150067 | NF2 | c.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 |
22 | g.29681474A>C | CA411150068 | NF2 | c.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 |
22 | g.29681474A>G | CA411150070 | NF2 | c.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 | |
22 | g.29681474A>T | CA411150069 | NF2 | c.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 | |
22 | g.29681475G>A | CA323120904 | NF2 | c.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 |
22 | g.29681475G>C | CA411150071 | NF2 | c.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 | |
22 | g.29681475G= | CA2400686808 | NF2 | c.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= | |
22 | g.29681475G>T | CA411150072 | NF2 | c.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 |
22 | g.29681475_29681515del | CA2695230527 | NF2 | c.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 | |
22 | g.29681476C>A | CA411150073 | NF2 | c.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 | |
22 | g.29681476C>G | CA411150074 | NF2 | c.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 | |
22 | g.29681476C>T | CA411150075 | NF2 | c.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 |
22 | g.29681477A= | CA2400686809 | NF2 | c.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= | |
22 | g.29681477A>C | CA021363 | NF2 | c.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 |
22 | g.29681477A>G | CA411150076 | NF2 | c.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 | |
22 | g.29681477A>T | CA411150077 | NF2 | c.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 | |
22 | g.29681477dup | CA2499226115 | NF2 | c.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 |
22 | g.29681478del | CA514190378 | NF2 | c.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 |
22 | g.29681478G>A | CA514190376 | NF2 | c.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 |
22 | g.29681478G>C | CA411150078 | NF2 | c.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 | |
22 | g.29681478G= | CA2400686810 | NF2 | c.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= | |
22 | g.29681478G>T | CA411150079 | NF2 | c.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 | |
22 | g.29681479C>A | CA411150082 | NF2 | c.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 | |
22 | g.29681479C>G | CA411150081 | NF2 | c.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 |
22 | g.29681479C>T | CA411150080 | NF2 | c.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 |
22 | g.29681480T>A | CA411150083 | NF2 | c.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 |
22 | g.29681480T>C | CA411150084 | NF2 | c.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 |
22 | g.29681480T>G | CA411150085 | NF2 | c.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 | |
22 | g.29681481C>A | CA514190382 | NF2 | c.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 | |
22 | g.29681481C= | CA2400686811 | NF2 | c.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= | |
22 | g.29681481C>G | CA514190384 | NF2 | c.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 | |
22 | g.29681481C>T | CA514190383 | NF2 | c.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 |
22 | g.29681481dup | CA2695230528 | NF2 | c.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 | |
22 | g.29681482A= | CA2400686812 | NF2 | c.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= | |
22 | g.29681482A>C | CA411150086 | NF2 | c.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 | |
22 | g.29681482A>G | CA411150087 | NF2 | c.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 |
22 | g.29681482A>T | CA411150088 | NF2 | c.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 | |
22 | g.29681483A= | CA2400686813 | NF2 | c.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= | |
22 | g.29681483A>C | CA411150090 | NF2 | c.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 | |
22 | g.29681483A>G | CA032390 | NF2 | c.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 |
22 | g.29681483A>T | CA411150089 | NF2 | c.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 | |
22 | g.29681484T>A | CA411150091 | NF2 | c.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 | |
22 | g.29681484T>C | CA514190389 | NF2 | c.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 | |
22 | g.29681484T>G | CA411150092 | NF2 | c.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 | |
22 | g.29681485del | CA514190390 | NF2 | c.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 |
22 | g.29681485G>A | CA411150093 | NF2 | c.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 | |
22 | g.29681485G>C | CA411150094 | NF2 | c.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 | |
22 | g.29681485G>T | CA411150095 | NF2 | c.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 |
22 | g.29681486A>C | CA411150096 | NF2 | c.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 | |
22 | g.29681486A>G | CA411150098 | NF2 | c.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 | |
22 | g.29681486A>T | CA411150097 | NF2 | c.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 | |
22 | g.29681487A= | CA2400686814 | NF2 | c.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= | |
22 | g.29681487A>C | CA411150099 | NF2 | c.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 |
22 | g.29681487A>G | CA323120916 | NF2 | c.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 |
22 | g.29681487A>T | CA411150100 | NF2 | c.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 | |
22 | g.29681488C>A | CA411150101 | NF2 | c.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 | |
22 | g.29681488C= | CA2400686815 | NF2 | c.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= | |
22 | g.29681488C>G | CA411150102 | NF2 | c.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 | |
22 | g.29681488C>T | CA411150103 | NF2 | c.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 |
22 | g.29681489T>A | CA411150104 | NF2 | c.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 |
22 | g.29681489T>C | CA411150105 | NF2 | c.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 | |
22 | g.29681489T>G | CA411150106 | NF2 | c.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 | |
22 | g.29681490C>A | CA514190397 | NF2 | c.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 |
22 | g.29681490C>G | CA514190395 | NF2 | c.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 | |
22 | g.29681490C>T | CA514190396 | NF2 | c.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 |
22 | g.29681491A= | CA2400686816 | NF2 | c.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= | |
22 | g.29681491A>C | CA411150107 | NF2 | c.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 | |
22 | g.29681491A>G | CA411150108 | NF2 | c.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 |
22 | g.29681491A>T | CA10583924 | NF2 | c.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 |
22 | g.29681491_29681492del | CA2573157893 | NF2 | c.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 |
22 | g.29681492A= | CA2400686817 | NF2 | c.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= | |
22 | g.29681492A>C | CA411150109 | NF2 | c.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 |
22 | g.29681492A>G | CA411150111 | NF2 | c.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 | |
22 | g.29681492A>T | CA411150110 | NF2 | c.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 | |
22 | g.29681493G>A | CA514190400 | NF2 | c.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 |
22 | g.29681493G>C | CA411150112 | NF2 | c.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 | |
22 | g.29681493G>T | CA411150113 | NF2 | c.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 | |
22 | g.29681494A= | CA2400686818 | NF2 | c.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= | |
22 | g.29681494A>C | CA411150114 | NF2 | c.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 |
22 | g.29681494A>G | CA032408 | NF2 | c.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 |
22 | g.29681494A>T | CA411150115 | NF2 | c.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 |
22 | g.29681495C>A | CA411150116 | NF2 | c.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 |
22 | g.29681495C= | CA2400686819 | NF2 | c.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= | |
22 | g.29681495C>G | CA411150117 | NF2 | c.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 | |
22 | g.29681495C>T | CA323120931 | NF2 | c.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 |
22 | g.29681496A= | CA2400686820 | NF2 | c.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= | |
22 | g.29681496A>C | CA514190407 | NF2 | c.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 |
22 | g.29681496A>G | CA514190405 | NF2 | c.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 |
22 | g.29681496A>T | CA514190406 | NF2 | c.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 | |
22 | g.29681497_29681498del | CA2695230529 | NF2 | c.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 | |
22 | g.29681497G>A | CA411150118 | NF2 | c.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 |
22 | g.29681497G>C | CA032438 | NF2 | c.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 |
22 | g.29681497G= | CA2400686821 | NF2 | c.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= | |
22 | g.29681497G>T | CA411150119 | NF2 | c.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 |
22 | g.29681498A>C | CA411150120 | NF2 | c.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 | |
22 | g.29681498A>G | CA411150121 | NF2 | c.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 | |
22 | g.29681498A>T | CA411150122 | NF2 | c.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 | |
22 | g.29681500del | CA514190413 | NF2 | c.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 |
22 | g.29681499A= | CA2400686822 | NF2 | c.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= | |
22 | g.29681499A>C | CA411150123 | NF2 | c.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 | |
22 | g.29681499A>G | CA514190421 | NF2 | c.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 | |
22 | g.29681499A>T | CA411150124 | NF2 | c.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 |
22 | g.29681500A>C | CA411150125 | NF2 | c.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 | |
22 | g.29681500A>G | CA411150126 | NF2 | c.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 | |
22 | g.29681500A>T | CA411150127 | NF2 | c.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 |
22 | g.29681501del | CA514190431 | NF2 | c.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 |
22 | g.29681501T>A | CA411150130 | NF2 | c.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 |
22 | g.29681501T>C | CA411150128 | NF2 | c.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 | |
22 | g.29681501T>G | CA411150129 | NF2 | c.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 | |
22 | g.29681502C>A | CA514190439 | NF2 | c.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 | |
22 | g.29681502C= | CA2400686823 | NF2 | c.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= | |
22 | g.29681502C>G | CA411150131 | NF2 | c.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 | |
22 | g.29681502C>T | CA032457 | NF2 | c.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 |
22 | g.29681503G>A | CA032474 | NF2 | c.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 |
22 | g.29681503G>C | CA411150134 | NF2 | c.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 |
22 | g.29681503G= | CA2400686824 | NF2 | c.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= | |
22 | g.29681503G>T | CA411150136 | NF2 | c.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 | |
22 | g.29681504del | CA2695230530 | NF2 | c.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 | |
22 | g.29681504A>C | CA411150138 | NF2 | c.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 | |
22 | g.29681504A>G | CA411150140 | NF2 | c.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 | |
22 | g.29681504A>T | CA411150142 | NF2 | c.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 | |
22 | g.29681505G>A | CA514190459 | NF2 | c.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 | |
22 | g.29681505G>C | CA411150144 | NF2 | c.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 | |
22 | g.29681505G>T | CA411150146 | NF2 | c.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 | |
22 | g.29681506G>A | CA411150151 | NF2 | c.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 |
22 | g.29681506G>C | CA411150149 | NF2 | c.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 | |
22 | g.29681506G>T | CA411150148 | NF2 | c.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 | |
22 | g.29681507C>A | CA411150153 | NF2 | c.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 |
22 | g.29681507C>G | CA411150155 | NF2 | c.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 | |
22 | g.29681507C>T | CA411150157 | NF2 | c.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 |
22 | g.29681508C>A | CA514190478 | NF2 | c.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 |
22 | g.29681508C>G | CA514190475 | NF2 | c.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 | |
22 | g.29681508C>T | CA514190473 | NF2 | c.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 |
22 | g.29681509T>A | CA411150159 | NF2 | c.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 | |
22 | g.29681509T>C | CA514190481 | NF2 | c.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 | |
22 | g.29681509T>G | CA411150161 | NF2 | c.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 | |
22 | g.29681510del | CA2695230531 | NF2 | c.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 | |
22 | g.29681510T>A | CA411150163 | NF2 | c.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 |
22 | g.29681510T>C | CA411150165 | NF2 | c.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 | |
22 | g.29681510T>G | CA411150167 | NF2 | c.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 | |
22 | g.29681510T= | CA2400686825 | NF2 | c.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= | |
22 | g.29681511G>A | CA514190491 | NF2 | c.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 | |
22 | g.29681511G>C | CA411150169 | NF2 | c.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 | |
22 | g.29681511G>T | CA411150171 | NF2 | c.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 | |
22 | g.29681512_29681533dup | CA2656032904 | NF2 | c.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 |
22 | g.29681512A>C | CA411150173 | NF2 | c.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 | |
22 | g.29681512A>G | CA411150175 | NF2 | c.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 | |
22 | g.29681512A>T | CA411150177 | NF2 | c.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 | |
22 | g.29681513A>C | CA411150179 | NF2 | c.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 | |
22 | g.29681513A>G | CA411150183 | NF2 | c.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 | |
22 | g.29681513A>T | CA411150181 | NF2 | c.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 | |
22 | g.29681514A>C | CA411150185 | NF2 | c.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 | |
22 | g.29681514A>G | CA514190508 | NF2 | c.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 |
22 | g.29681514A>T | CA411150187 | NF2 | c.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 |
22 | g.29681515C>A | CA411150189 | NF2 | c.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 | |
22 | g.29681515C>G | CA411150191 | NF2 | c.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 |
22 | g.29681515C>T | CA514190512 | NF2 | c.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 | |
22 | g.29681516T>A | CA411150193 | NF2 | c.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 | |
22 | g.29681516T>C | CA411150195 | NF2 | c.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 | |
22 | g.29681516T>G | CA411150197 | NF2 | c.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 | |
22 | g.29681516_29681519del | CA2580615292 | NF2 | c.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 |
22 | g.29681517G>A | CA514190522 | NF2 | c.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 |
22 | g.29681517G>C | CA514190523 | NF2 | c.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 | |
22 | g.29681517G= | CA2400686826 | NF2 | c.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= | |
22 | g.29681517G>T | CA514190526 | NF2 | c.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 | |
22 | g.29681518A>C | CA411150198 | NF2 | c.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 | |
22 | g.29681518A>G | CA411150200 | NF2 | c.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 | |
22 | g.29681518A>T | CA411150202 | NF2 | c.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 | |
22 | g.29681519A>C | CA411150205 | NF2 | c.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 | |
22 | g.29681519A>G | CA411150207 | NF2 | c.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 |
22 | g.29681519A>T | CA411150204 | NF2 | c.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 | |
22 | g.29681519_29681521delinsAAG | CA2400686827 | NF2 | c.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 | |
22 | g.29681520A>C | CA411150212 | NF2 | c.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 | |
22 | g.29681520A>G | CA514190541 | NF2 | c.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 |
22 | g.29681520A>T | CA411150210 | NF2 | c.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 | |
22 | g.29681524_29681525del | CA915952875 | NF2 | c.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 |
22 | g.29681521G>A | CA411150215 | NF2 | c.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 | |
22 | g.29681521G>C | CA411150217 | NF2 | c.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 | |
22 | g.29681521G>T | CA411150218 | NF2 | c.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 | |
22 | g.29681522A>C | CA411150220 | NF2 | c.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 |
22 | g.29681522A>G | CA411150222 | NF2 | c.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 |
22 | g.29681522A>T | CA411150224 | NF2 | c.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 | |
22 | g.29681523G>A | CA514190555 | NF2 | c.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 | |
22 | g.29681523G>C | CA411150227 | NF2 | c.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 | |
22 | g.29681523G>T | CA411150229 | NF2 | c.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 | |
22 | g.29681524A= | CA2400686828 | NF2 | c.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= | |
22 | g.29681524A>C | CA514190561 | NF2 | c.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 |
22 | g.29681524A>G | CA411150232 | NF2 | c.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 |
22 | g.29681524A>T | CA411150234 | NF2 | c.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 |
22 | g.29681525G>A | CA411150239 | NF2 | c.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 |
22 | g.29681525G>C | CA411150238 | NF2 | c.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 |
22 | g.29681525G= | CA2400686829 | NF2 | c.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= | |
22 | g.29681525G>T | CA411150236 | NF2 | c.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 | |
22 | g.29681527del | CA2656032905 | NF2 | c.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 |
22 | g.29681526G>A | CA514190572 | NF2 | c.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 |
22 | g.29681526G>C | CA411150241 | NF2 | c.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 | |
22 | g.29681526G>T | CA411150242 | NF2 | c.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 | |
22 | g.29681527G>A | CA411150245 | NF2 | c.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 |
22 | g.29681527G>C | CA411150247 | NF2 | c.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 |
22 | g.29681527G>T | CA411150249 | NF2 | c.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 | |
22 | g.29681528A>C | CA411150252 | NF2 | c.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 | |
22 | g.29681528A>G | CA411150254 | NF2 | c.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 | |
22 | g.29681528A>T | CA411150256 | NF2 | c.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 | |
22 | g.29681529G>A | CA514190587 | NF2 | c.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 |
22 | g.29681529G>C | CA411150258 | NF2 | c.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 | |
22 | g.29681529G>T | CA411150260 | NF2 | c.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 | |
22 | g.29681530A>C | CA411150262 | NF2 | c.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 | |
22 | g.29681530A>G | CA411150264 | NF2 | c.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 |
22 | g.29681530A>T | CA411150265 | NF2 | c.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 | |
22 | g.29681531C>A | CA411150267 | NF2 | c.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 | |
22 | g.29681531C= | CA2400686830 | NF2 | c.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= | |
22 | g.29681531C>G | CA411150269 | NF2 | c.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 | |
22 | g.29681531C>T | CA032497 | NF2 | c.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 |
22 | g.29681532A>C | CA514190607 | NF2 | c.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 | |
22 | g.29681532A>G | CA514190605 | NF2 | c.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 | |
22 | g.29681532A>T | CA514190603 | NF2 | c.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 | |
22 | g.29681533G>A | CA032511 | NF2 | c.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 |
22 | g.29681533G>C | CA411150272 | NF2 | c.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 | |
22 | g.29681533G= | CA2400686831 | NF2 | c.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= | |
22 | g.29681533G>T | CA411150274 | NF2 | c.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 | |
22 | g.29681534C>A | CA411150276 | NF2 | c.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 |
22 | g.29681534C>G | CA411150278 | NF2 | c.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 |
22 | g.29681534C>T | CA411150280 | NF2 | c.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 |
22 | g.29681535T>A | CA514190618 | NF2 | c.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 | |
22 | g.29681535T>C | CA032526 | NF2 | c.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 |
22 | g.29681535T>G | CA514190619 | NF2 | c.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 | |
22 | g.29681535T= | CA2400686832 | NF2 | c.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= | |
22 | g.29681536C>A | CA411150285 | NF2 | c.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 | |
22 | g.29681536C= | CA2400686833 | NF2 | c.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= | |
22 | g.29681536C>G | CA032541 | NF2 | c.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 |
22 | g.29681536C>T | CA514190620 | NF2 | c.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 | |
22 | g.29681537T>A | CA411150289 | NF2 | c.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 | |
22 | g.29681537T>C | CA411150292 | NF2 | c.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 | |
22 | g.29681537T>G | CA411150294 | NF2 | c.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 | |
22 | g.29681537dup | CA2818685035 | NF2 | c.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 | |
22 | g.29681538G>A | CA514190622 | NF2 | c.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 | |
22 | g.29681538G>C | CA514190624 | NF2 | c.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 | |
22 | g.29681538G>T | CA514190623 | NF2 | c.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 | |
22 | g.29681539G>A | CA411150298 | NF2 | c.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 | |
22 | g.29681539G>C | CA411150300 | NF2 | c.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 |
22 | g.29681539G= | CA2400686834 | NF2 | c.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= | |
22 | g.29681539G>T | CA323120976 | NF2 | c.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 |
22 | g.29681540del | CA2580099560 | NF2 | c.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 |
22 | g.29681540A>C | CA411150302 | NF2 | c.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 | |
22 | g.29681540A>G | CA411150304 | NF2 | c.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 |
22 | g.29681540A>T | CA411150306 | NF2 | c.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 |
22 | g.29681541T>A | CA411150307 | NF2 | c.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 | |
22 | g.29681541T>C | CA514190625 | NF2 | c.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 |
22 | g.29681541T>G | CA411150309 | NF2 | c.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 | |
22 | g.29681542A= | CA2400686835 | NF2 | c.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= | |
22 | g.29681542A>C | CA411150313 | NF2 | c.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 | |
22 | g.29681542A>G | CA323120994 | NF2 | c.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 |
22 | g.29681542A>T | CA032567 | NF2 | c.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 |
22 | g.29681543T>A | CA411150315 | NF2 | c.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 | |
22 | g.29681543T>C | CA411150317 | NF2 | c.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 | |
22 | g.29681543T>G | CA411150319 | NF2 | c.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 | |
22 | g.29681544T>A | CA514190627 | NF2 | c.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 | |
22 | g.29681544T>C | CA514190626 | NF2 | c.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 | |
22 | g.29681544T>G | CA411150321 | NF2 | c.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 | |
22 | g.29681545C>A | CA411150323 | NF2 | c.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 | |
22 | g.29681545C>G | CA411150325 | NF2 | c.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 | |
22 | g.29681545C>T | CA514190628 | NF2 | c.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 | |
22 | g.29681546T>A | CA411150331 | NF2 | c.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 | |
22 | g.29681546T>C | CA411150329 | NF2 | c.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 | |
22 | g.29681546T>G | CA411150327 | NF2 | c.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 | |
22 | g.29681547G>A | CA032580 | NF2 | c.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 |
22 | g.29681547G>C | CA514190629 | NF2 | c.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 | |
22 | g.29681547G= | CA2400686836 | NF2 | c.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= | |
22 | g.29681547G>T | CA514190630 | NF2 | c.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 |
22 | g.29681548C>A | CA411150336 | NF2 | c.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 |
22 | g.29681548C= | CA2400686837 | NF2 | c.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= | |
22 | g.29681548C>G | CA411150334 | NF2 | c.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 | |
22 | g.29681548C>T | CA032603 | NF2 | c.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 |
22 | g.29681549A= | CA2400686838 | NF2 | c.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= | |
22 | g.29681549A>C | CA411150338 | NF2 | c.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 | |
22 | g.29681549A>G | CA411150339 | NF2 | c.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 |
22 | g.29681549A>T | CA10583925 | NF2 | c.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 |
22 | g.29681550C>A | CA411150342 | NF2 | c.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 | |
22 | g.29681550C= | CA2400686839 | NF2 | c.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= | |
22 | g.29681550C>G | CA411150344 | NF2 | c.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 | |
22 | g.29681550C>T | CA514190631 | NF2 | c.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 |
22 | g.29681551A>C | CA411150346 | NF2 | c.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 | |
22 | g.29681551A>G | CA411150348 | NF2 | c.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 |
22 | g.29681551A>T | CA411150349 | NF2 | c.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 | |
22 | g.29681552A= | CA2400686840 | NF2 | c.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= | |
22 | g.29681552A>C | CA411150351 | NF2 | c.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 | |
22 | g.29681552A>G | CA323121011 | NF2 | c.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 |
22 | g.29681552A>T | CA411150354 | NF2 | c.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 | |
22 | g.29681553T>A | CA411150358 | NF2 | c.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 | |
22 | g.29681553T>C | CA514190632 | NF2 | c.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 |
22 | g.29681553T>G | CA411150356 | NF2 | c.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 |
22 | g.29681554G>A | CA411150359 | NF2 | c.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 |
22 | g.29681554G>C | CA411150360 | NF2 | c.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 | |
22 | g.29681554G>T | CA411150361 | NF2 | c.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 |
22 | g.29681554_29681556del | CA2656032906 | NF2 | c.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 |
22 | g.29681555A= | CA2400686841 | NF2 | c.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= | |
22 | g.29681555A>C | CA411150362 | NF2 | c.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 | |
22 | g.29681555A>G | CA411150364 | NF2 | c.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 |
22 | g.29681555A>T | CA411150366 | NF2 | c.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 | |
22 | g.29681556G>A | CA514190634 | NF2 | c.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 |
22 | g.29681556G>C | CA411150368 | NF2 | c.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 |
22 | g.29681556G= | CA2400686842 | NF2 | c.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= | |
22 | g.29681556G>T | CA411150369 | NF2 | c.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 | |
22 | g.29681557A= | CA2400686843 | NF2 | c.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= | |
22 | g.29681557A>C | CA411150370 | NF2 | c.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 | |
22 | g.29681557A>G | CA411150372 | NF2 | c.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 | |
22 | g.29681557A>T | CA411150374 | NF2 | c.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 |
22 | g.29681558A>C | CA411150376 | NF2 | c.1559A>C (p.Asn520Thr) c.*1188A>C (n.*1188A>C) c.1694A>C (p.Asn565Thr) c.1112A>C (p.Asn371Thr) c.*1576A>C (n.*1576A>C) c.1713A>C (n.1713A>C) c.1445A>C (p.Asn482Thr) c.1571A>C (p.Asn524Thr) c.1568A>C (p.Asn523Thr) c.1607A>C (p.Asn536Thr) c.448-13194A>C (n.448-13194A>C) c.*93+3235A>C (n.*93+3235A>C) n.2253A>C c.1580A>C (p.Asn527Thr) n.2176A>C | |
22 | g.29681558A>G | CA411150378 | NF2 | c.1559A>G (p.Asn520Ser) c.*1188A>G (n.*1188A>G) c.1694A>G (p.Asn565Ser) c.1112A>G (p.Asn371Ser) c.*1576A>G (n.*1576A>G) c.1713A>G (n.1713A>G) c.1445A>G (p.Asn482Ser) c.1571A>G (p.Asn524Ser) c.1568A>G (p.Asn523Ser) c.1607A>G (p.Asn536Ser) c.448-13194A>G (n.448-13194A>G) c.*93+3235A>G (n.*93+3235A>G) n.2253A>G c.1580A>G (p.Asn527Ser) n.2176A>G | |
22 | g.29681558A>T | CA411150379 | NF2 | c.1559A>T (p.Asn520Ile) c.*1188A>T (n.*1188A>T) c.1694A>T (p.Asn565Ile) c.1112A>T (p.Asn371Ile) c.*1576A>T (n.*1576A>T) c.1713A>T (n.1713A>T) c.1445A>T (p.Asn482Ile) c.1571A>T (p.Asn524Ile) c.1568A>T (p.Asn523Ile) c.1607A>T (p.Asn536Ile) c.448-13194A>T (n.448-13194A>T) c.*93+3235A>T (n.*93+3235A>T) n.2253A>T c.1580A>T (p.Asn527Ile) n.2176A>T |