Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.29681439_29681601delCA645601219NF2c.1440_1602del
c.*1069_*1231del
c.1575_1737del
c.993_1155del
c.*1457_*1619del
c.1594_1756del
c.1326_1488del
c.1452_1614del
c.1449_1611del
c.1488_1650del
c.448-13313_448-13151del (n.448-13313_448-13151del)
c.*93+3116_*93+3278del (n.*93+3116_*93+3278del)
n.2134_2296del
c.1461_1623del
n.2057_2219del
 COSMIC
22g.29681475_29681515delCA2695230527NF2c.1476_1516del (p.Glu492AspfsTer14)
c.*1105_*1145del (n.*1105_*1145del)
c.1611_1651del (p.Glu537AspfsTer14)
c.1029_1069del (p.Glu343AspfsTer14)
c.*1493_*1533del (n.*1493_*1533del)
c.1630_1670del (n.1630_1670del)
c.1362_1402del (p.Glu454AspfsTer14)
c.1488_1528del (p.Glu496AspfsTer14)
c.1485_1525del (p.Glu495AspfsTer14)
c.1524_1564del (p.Glu508AspfsTer14)
c.448-13277_448-13237del (n.448-13277_448-13237del)
c.*93+3152_*93+3192del (n.*93+3152_*93+3192del)
n.2170_2210del
c.1497_1537del (p.Glu499AspfsTer14)
n.2093_2133del
22g.29681500delCA514190413NF2c.1501del (p.Ile501SerfsTer4)
c.*1130del (n.*1130del)
c.1636del (p.Ile546SerfsTer4)
c.1054del (p.Ile352SerfsTer4)
c.*1518del (n.*1518del)
c.1655del (n.1655del)
c.1387del (p.Ile463SerfsTer4)
c.1513del (p.Ile505SerfsTer4)
c.1510del (p.Ile504SerfsTer4)
c.1549del (p.Ile517SerfsTer4)
c.448-13252del (n.448-13252del)
c.*93+3177del (n.*93+3177del)
n.2195del
c.1522del (p.Ile508SerfsTer4)
n.2118del
 COSMIC
22g.29681499A=CA2400686822NF2c.1500A= (p.Glu500=)
c.*1129A= (n.*1129A=)
c.1635A= (p.Glu545=)
c.1053A= (p.Glu351=)
c.*1517A= (n.*1517A=)
c.1654A= (n.1654A=)
c.1386A= (p.Glu462=)
c.1512A= (p.Glu504=)
c.1509A= (p.Glu503=)
c.1548A= (p.Glu516=)
c.448-13253A= (n.448-13253A=)
c.*93+3176A= (n.*93+3176A=)
n.2194A=
c.1521A= (p.Glu507=)
n.2117A=
22g.29681499A>CCA411150123NF2c.1500A>C (p.Glu500Asp)
c.*1129A>C (n.*1129A>C)
c.1635A>C (p.Glu545Asp)
c.1053A>C (p.Glu351Asp)
c.*1517A>C (n.*1517A>C)
c.1654A>C (n.1654A>C)
c.1386A>C (p.Glu462Asp)
c.1512A>C (p.Glu504Asp)
c.1509A>C (p.Glu503Asp)
c.1548A>C (p.Glu516Asp)
c.448-13253A>C (n.448-13253A>C)
c.*93+3176A>C (n.*93+3176A>C)
n.2194A>C
c.1521A>C (p.Glu507Asp)
n.2117A>C
22g.29681499A>GCA514190421NF2c.1500A>G (p.Glu500=)
c.*1129A>G (n.*1129A>G)
c.1635A>G (p.Glu545=)
c.1053A>G (p.Glu351=)
c.*1517A>G (n.*1517A>G)
c.1654A>G (n.1654A>G)
c.1386A>G (p.Glu462=)
c.1512A>G (p.Glu504=)
c.1509A>G (p.Glu503=)
c.1548A>G (p.Glu516=)
c.448-13253A>G (n.448-13253A>G)
c.*93+3176A>G (n.*93+3176A>G)
n.2194A>G
c.1521A>G (p.Glu507=)
n.2117A>G
22g.29681499A>TCA411150124NF2c.1500A>T (p.Glu500Asp)
c.*1129A>T (n.*1129A>T)
c.1635A>T (p.Glu545Asp)
c.1053A>T (p.Glu351Asp)
c.*1517A>T (n.*1517A>T)
c.1654A>T (n.1654A>T)
c.1386A>T (p.Glu462Asp)
c.1512A>T (p.Glu504Asp)
c.1509A>T (p.Glu503Asp)
c.1548A>T (p.Glu516Asp)
c.448-13253A>T (n.448-13253A>T)
c.*93+3176A>T (n.*93+3176A>T)
n.2194A>T
c.1521A>T (p.Glu507Asp)
n.2117A>T
 ClinVar dbSNP gnomAD v4
22g.29681500A>CCA411150125NF2c.1501A>C (p.Ile501Leu)
c.*1130A>C (n.*1130A>C)
c.1636A>C (p.Ile546Leu)
c.1054A>C (p.Ile352Leu)
c.*1518A>C (n.*1518A>C)
c.1655A>C (n.1655A>C)
c.1387A>C (p.Ile463Leu)
c.1513A>C (p.Ile505Leu)
c.1510A>C (p.Ile504Leu)
c.1549A>C (p.Ile517Leu)
c.448-13252A>C (n.448-13252A>C)
c.*93+3177A>C (n.*93+3177A>C)
n.2195A>C
c.1522A>C (p.Ile508Leu)
n.2118A>C
22g.29681500A>GCA411150126NF2c.1501A>G (p.Ile501Val)
c.*1130A>G (n.*1130A>G)
c.1636A>G (p.Ile546Val)
c.1054A>G (p.Ile352Val)
c.*1518A>G (n.*1518A>G)
c.1655A>G (n.1655A>G)
c.1387A>G (p.Ile463Val)
c.1513A>G (p.Ile505Val)
c.1510A>G (p.Ile504Val)
c.1549A>G (p.Ile517Val)
c.448-13252A>G (n.448-13252A>G)
c.*93+3177A>G (n.*93+3177A>G)
n.2195A>G
c.1522A>G (p.Ile508Val)
n.2118A>G
22g.29681500A>TCA411150127NF2c.1501A>T (p.Ile501Phe)
c.*1130A>T (n.*1130A>T)
c.1636A>T (p.Ile546Phe)
c.1054A>T (p.Ile352Phe)
c.*1518A>T (n.*1518A>T)
c.1655A>T (n.1655A>T)
c.1387A>T (p.Ile463Phe)
c.1513A>T (p.Ile505Phe)
c.1510A>T (p.Ile504Phe)
c.1549A>T (p.Ile517Phe)
c.448-13252A>T (n.448-13252A>T)
c.*93+3177A>T (n.*93+3177A>T)
n.2195A>T
c.1522A>T (p.Ile508Phe)
n.2118A>T
 gnomAD v4
22g.29681501delCA514190431NF2c.1502del (p.Ile501ThrfsTer4)
c.*1131del (n.*1131del)
c.1637del (p.Ile546ThrfsTer4)
c.1055del (p.Ile352ThrfsTer4)
c.*1519del (n.*1519del)
c.1656del (n.1656del)
c.1388del (p.Ile463ThrfsTer4)
c.1514del (p.Ile505ThrfsTer4)
c.1511del (p.Ile504ThrfsTer4)
c.1550del (p.Ile517ThrfsTer4)
c.448-13251del (n.448-13251del)
c.*93+3178del (n.*93+3178del)
n.2196del
c.1523del (p.Ile508ThrfsTer4)
n.2119del
 COSMIC
22g.29681501T>ACA411150130NF2c.1502T>A (p.Ile501Asn)
c.*1131T>A (n.*1131T>A)
c.1637T>A (p.Ile546Asn)
c.1055T>A (p.Ile352Asn)
c.*1519T>A (n.*1519T>A)
c.1656T>A (n.1656T>A)
c.1388T>A (p.Ile463Asn)
c.1514T>A (p.Ile505Asn)
c.1511T>A (p.Ile504Asn)
c.1550T>A (p.Ile517Asn)
c.448-13251T>A (n.448-13251T>A)
c.*93+3178T>A (n.*93+3178T>A)
n.2196T>A
c.1523T>A (p.Ile508Asn)
n.2119T>A
 dbSNP
22g.29681501T>CCA411150128NF2c.1502T>C (p.Ile501Thr)
c.*1131T>C (n.*1131T>C)
c.1637T>C (p.Ile546Thr)
c.1055T>C (p.Ile352Thr)
c.*1519T>C (n.*1519T>C)
c.1656T>C (n.1656T>C)
c.1388T>C (p.Ile463Thr)
c.1514T>C (p.Ile505Thr)
c.1511T>C (p.Ile504Thr)
c.1550T>C (p.Ile517Thr)
c.448-13251T>C (n.448-13251T>C)
c.*93+3178T>C (n.*93+3178T>C)
n.2196T>C
c.1523T>C (p.Ile508Thr)
n.2119T>C
22g.29681501T>GCA411150129NF2c.1502T>G (p.Ile501Ser)
c.*1131T>G (n.*1131T>G)
c.1637T>G (p.Ile546Ser)
c.1055T>G (p.Ile352Ser)
c.*1519T>G (n.*1519T>G)
c.1656T>G (n.1656T>G)
c.1388T>G (p.Ile463Ser)
c.1514T>G (p.Ile505Ser)
c.1511T>G (p.Ile504Ser)
c.1550T>G (p.Ile517Ser)
c.448-13251T>G (n.448-13251T>G)
c.*93+3178T>G (n.*93+3178T>G)
n.2196T>G
c.1523T>G (p.Ile508Ser)
n.2119T>G
22g.29681502C>ACA514190439NF2c.1503C>A (p.Ile501=)
c.*1132C>A (n.*1132C>A)
c.1638C>A (p.Ile546=)
c.1056C>A (p.Ile352=)
c.*1520C>A (n.*1520C>A)
c.1657C>A (n.1657C>A)
c.1389C>A (p.Ile463=)
c.1515C>A (p.Ile505=)
c.1512C>A (p.Ile504=)
c.1551C>A (p.Ile517=)
c.448-13250C>A (n.448-13250C>A)
c.*93+3179C>A (n.*93+3179C>A)
n.2197C>A
c.1524C>A (p.Ile508=)
n.2120C>A
22g.29681502C=CA2400686823NF2c.1503C= (p.Ile501=)
c.*1132C= (n.*1132C=)
c.1638C= (p.Ile546=)
c.1056C= (p.Ile352=)
c.*1520C= (n.*1520C=)
c.1657C= (n.1657C=)
c.1389C= (p.Ile463=)
c.1515C= (p.Ile505=)
c.1512C= (p.Ile504=)
c.1551C= (p.Ile517=)
c.448-13250C= (n.448-13250C=)
c.*93+3179C= (n.*93+3179C=)
n.2197C=
c.1524C= (p.Ile508=)
n.2120C=
22g.29681502C>GCA411150131NF2c.1503C>G (p.Ile501Met)
c.*1132C>G (n.*1132C>G)
c.1638C>G (p.Ile546Met)
c.1056C>G (p.Ile352Met)
c.*1520C>G (n.*1520C>G)
c.1657C>G (n.1657C>G)
c.1389C>G (p.Ile463Met)
c.1515C>G (p.Ile505Met)
c.1512C>G (p.Ile504Met)
c.1551C>G (p.Ile517Met)
c.448-13250C>G (n.448-13250C>G)
c.*93+3179C>G (n.*93+3179C>G)
n.2197C>G
c.1524C>G (p.Ile508Met)
n.2120C>G
22g.29681502C>TCA032457NF2c.1503C>T (p.Ile501=)
c.*1132C>T (n.*1132C>T)
c.1638C>T (p.Ile546=)
c.1056C>T (p.Ile352=)
c.*1520C>T (n.*1520C>T)
c.1657C>T (n.1657C>T)
c.1389C>T (p.Ile463=)
c.1515C>T (p.Ile505=)
c.1512C>T (p.Ile504=)
c.1551C>T (p.Ile517=)
c.448-13250C>T (n.448-13250C>T)
c.*93+3179C>T (n.*93+3179C>T)
n.2197C>T
c.1524C>T (p.Ile508=)
n.2120C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22g.29681503G>ACA032474NF2c.1504G>A (p.Glu502Lys)
c.*1133G>A (n.*1133G>A)
c.1639G>A (p.Glu547Lys)
c.1057G>A (p.Glu353Lys)
c.*1521G>A (n.*1521G>A)
c.1658G>A (n.1658G>A)
c.1390G>A (p.Glu464Lys)
c.1516G>A (p.Glu506Lys)
c.1513G>A (p.Glu505Lys)
c.1552G>A (p.Glu518Lys)
c.448-13249G>A (n.448-13249G>A)
c.*93+3180G>A (n.*93+3180G>A)
n.2198G>A
c.1525G>A (p.Glu509Lys)
n.2121G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.29681503G>CCA411150134NF2c.1504G>C (p.Glu502Gln)
c.*1133G>C (n.*1133G>C)
c.1639G>C (p.Glu547Gln)
c.1057G>C (p.Glu353Gln)
c.*1521G>C (n.*1521G>C)
c.1658G>C (n.1658G>C)
c.1390G>C (p.Glu464Gln)
c.1516G>C (p.Glu506Gln)
c.1513G>C (p.Glu505Gln)
c.1552G>C (p.Glu518Gln)
c.448-13249G>C (n.448-13249G>C)
c.*93+3180G>C (n.*93+3180G>C)
n.2198G>C
c.1525G>C (p.Glu509Gln)
n.2121G>C
 dbSNP
22g.29681503G=CA2400686824NF2c.1504G= (p.Glu502=)
c.*1133G= (n.*1133G=)
c.1639G= (p.Glu547=)
c.1057G= (p.Glu353=)
c.*1521G= (n.*1521G=)
c.1658G= (n.1658G=)
c.1390G= (p.Glu464=)
c.1516G= (p.Glu506=)
c.1513G= (p.Glu505=)
c.1552G= (p.Glu518=)
c.448-13249G= (n.448-13249G=)
c.*93+3180G= (n.*93+3180G=)
n.2198G=
c.1525G= (p.Glu509=)
n.2121G=
22g.29681503G>TCA411150136NF2c.1504G>T (p.Glu502Ter)
c.*1133G>T (n.*1133G>T)
c.1639G>T (p.Glu547Ter)
c.1057G>T (p.Glu353Ter)
c.*1521G>T (n.*1521G>T)
c.1658G>T (n.1658G>T)
c.1390G>T (p.Glu464Ter)
c.1516G>T (p.Glu506Ter)
c.1513G>T (p.Glu505Ter)
c.1552G>T (p.Glu518Ter)
c.448-13249G>T (n.448-13249G>T)
c.*93+3180G>T (n.*93+3180G>T)
n.2198G>T
c.1525G>T (p.Glu509Ter)
n.2121G>T
22g.29681504delCA2695230530NF2c.1505del (p.Glu502GlyfsTer3)
c.*1134del (n.*1134del)
c.1640del (p.Glu547GlyfsTer3)
c.1058del (p.Glu353GlyfsTer3)
c.*1522del (n.*1522del)
c.1659del (n.1659del)
c.1391del (p.Glu464GlyfsTer3)
c.1517del (p.Glu506GlyfsTer3)
c.1514del (p.Glu505GlyfsTer3)
c.1553del (p.Glu518GlyfsTer3)
c.448-13248del (n.448-13248del)
c.*93+3181del (n.*93+3181del)
n.2199del
c.1526del (p.Glu509GlyfsTer3)
n.2122del
22g.29681504A>CCA411150138NF2c.1505A>C (p.Glu502Ala)
c.*1134A>C (n.*1134A>C)
c.1640A>C (p.Glu547Ala)
c.1058A>C (p.Glu353Ala)
c.*1522A>C (n.*1522A>C)
c.1659A>C (n.1659A>C)
c.1391A>C (p.Glu464Ala)
c.1517A>C (p.Glu506Ala)
c.1514A>C (p.Glu505Ala)
c.1553A>C (p.Glu518Ala)
c.448-13248A>C (n.448-13248A>C)
c.*93+3181A>C (n.*93+3181A>C)
n.2199A>C
c.1526A>C (p.Glu509Ala)
n.2122A>C
22g.29681504A>GCA411150140NF2c.1505A>G (p.Glu502Gly)
c.*1134A>G (n.*1134A>G)
c.1640A>G (p.Glu547Gly)
c.1058A>G (p.Glu353Gly)
c.*1522A>G (n.*1522A>G)
c.1659A>G (n.1659A>G)
c.1391A>G (p.Glu464Gly)
c.1517A>G (p.Glu506Gly)
c.1514A>G (p.Glu505Gly)
c.1553A>G (p.Glu518Gly)
c.448-13248A>G (n.448-13248A>G)
c.*93+3181A>G (n.*93+3181A>G)
n.2199A>G
c.1526A>G (p.Glu509Gly)
n.2122A>G
22g.29681504A>TCA411150142NF2c.1505A>T (p.Glu502Val)
c.*1134A>T (n.*1134A>T)
c.1640A>T (p.Glu547Val)
c.1058A>T (p.Glu353Val)
c.*1522A>T (n.*1522A>T)
c.1659A>T (n.1659A>T)
c.1391A>T (p.Glu464Val)
c.1517A>T (p.Glu506Val)
c.1514A>T (p.Glu505Val)
c.1553A>T (p.Glu518Val)
c.448-13248A>T (n.448-13248A>T)
c.*93+3181A>T (n.*93+3181A>T)
n.2199A>T
c.1526A>T (p.Glu509Val)
n.2122A>T
22g.29681505G>ACA514190459NF2c.1506G>A (p.Glu502=)
c.*1135G>A (n.*1135G>A)
c.1641G>A (p.Glu547=)
c.1059G>A (p.Glu353=)
c.*1523G>A (n.*1523G>A)
c.1660G>A (n.1660G>A)
c.1392G>A (p.Glu464=)
c.1518G>A (p.Glu506=)
c.1515G>A (p.Glu505=)
c.1554G>A (p.Glu518=)
c.448-13247G>A (n.448-13247G>A)
c.*93+3182G>A (n.*93+3182G>A)
n.2200G>A
c.1527G>A (p.Glu509=)
n.2123G>A
22g.29681505G>CCA411150144NF2c.1506G>C (p.Glu502Asp)
c.*1135G>C (n.*1135G>C)
c.1641G>C (p.Glu547Asp)
c.1059G>C (p.Glu353Asp)
c.*1523G>C (n.*1523G>C)
c.1660G>C (n.1660G>C)
c.1392G>C (p.Glu464Asp)
c.1518G>C (p.Glu506Asp)
c.1515G>C (p.Glu505Asp)
c.1554G>C (p.Glu518Asp)
c.448-13247G>C (n.448-13247G>C)
c.*93+3182G>C (n.*93+3182G>C)
n.2200G>C
c.1527G>C (p.Glu509Asp)
n.2123G>C
22g.29681505G>TCA411150146NF2c.1506G>T (p.Glu502Asp)
c.*1135G>T (n.*1135G>T)
c.1641G>T (p.Glu547Asp)
c.1059G>T (p.Glu353Asp)
c.*1523G>T (n.*1523G>T)
c.1660G>T (n.1660G>T)
c.1392G>T (p.Glu464Asp)
c.1518G>T (p.Glu506Asp)
c.1515G>T (p.Glu505Asp)
c.1554G>T (p.Glu518Asp)
c.448-13247G>T (n.448-13247G>T)
c.*93+3182G>T (n.*93+3182G>T)
n.2200G>T
c.1527G>T (p.Glu509Asp)
n.2123G>T
22g.29681506G>ACA411150151NF2c.1507G>A (p.Ala503Thr)
c.*1136G>A (n.*1136G>A)
c.1642G>A (p.Ala548Thr)
c.1060G>A (p.Ala354Thr)
c.*1524G>A (n.*1524G>A)
c.1661G>A (n.1661G>A)
c.1393G>A (p.Ala465Thr)
c.1519G>A (p.Ala507Thr)
c.1516G>A (p.Ala506Thr)
c.1555G>A (p.Ala519Thr)
c.448-13246G>A (n.448-13246G>A)
c.*93+3183G>A (n.*93+3183G>A)
n.2201G>A
c.1528G>A (p.Ala510Thr)
n.2124G>A
 ClinVar dbSNP gnomAD v4
22g.29681506G>CCA411150149NF2c.1507G>C (p.Ala503Pro)
c.*1136G>C (n.*1136G>C)
c.1642G>C (p.Ala548Pro)
c.1060G>C (p.Ala354Pro)
c.*1524G>C (n.*1524G>C)
c.1661G>C (n.1661G>C)
c.1393G>C (p.Ala465Pro)
c.1519G>C (p.Ala507Pro)
c.1516G>C (p.Ala506Pro)
c.1555G>C (p.Ala519Pro)
c.448-13246G>C (n.448-13246G>C)
c.*93+3183G>C (n.*93+3183G>C)
n.2201G>C
c.1528G>C (p.Ala510Pro)
n.2124G>C
22g.29681506G>TCA411150148NF2c.1507G>T (p.Ala503Ser)
c.*1136G>T (n.*1136G>T)
c.1642G>T (p.Ala548Ser)
c.1060G>T (p.Ala354Ser)
c.*1524G>T (n.*1524G>T)
c.1661G>T (n.1661G>T)
c.1393G>T (p.Ala465Ser)
c.1519G>T (p.Ala507Ser)
c.1516G>T (p.Ala506Ser)
c.1555G>T (p.Ala519Ser)
c.448-13246G>T (n.448-13246G>T)
c.*93+3183G>T (n.*93+3183G>T)
n.2201G>T
c.1528G>T (p.Ala510Ser)
n.2124G>T
22g.29681507C>ACA411150153NF2c.1508C>A (p.Ala503Asp)
c.*1137C>A (n.*1137C>A)
c.1643C>A (p.Ala548Asp)
c.1061C>A (p.Ala354Asp)
c.*1525C>A (n.*1525C>A)
c.1662C>A (n.1662C>A)
c.1394C>A (p.Ala465Asp)
c.1520C>A (p.Ala507Asp)
c.1517C>A (p.Ala506Asp)
c.1556C>A (p.Ala519Asp)
c.448-13245C>A (n.448-13245C>A)
c.*93+3184C>A (n.*93+3184C>A)
n.2202C>A
c.1529C>A (p.Ala510Asp)
n.2125C>A
 gnomAD v4
22g.29681507C>GCA411150155NF2c.1508C>G (p.Ala503Gly)
c.*1137C>G (n.*1137C>G)
c.1643C>G (p.Ala548Gly)
c.1061C>G (p.Ala354Gly)
c.*1525C>G (n.*1525C>G)
c.1662C>G (n.1662C>G)
c.1394C>G (p.Ala465Gly)
c.1520C>G (p.Ala507Gly)
c.1517C>G (p.Ala506Gly)
c.1556C>G (p.Ala519Gly)
c.448-13245C>G (n.448-13245C>G)
c.*93+3184C>G (n.*93+3184C>G)
n.2202C>G
c.1529C>G (p.Ala510Gly)
n.2125C>G
22g.29681507C>TCA411150157NF2c.1508C>T (p.Ala503Val)
c.*1137C>T (n.*1137C>T)
c.1643C>T (p.Ala548Val)
c.1061C>T (p.Ala354Val)
c.*1525C>T (n.*1525C>T)
c.1662C>T (n.1662C>T)
c.1394C>T (p.Ala465Val)
c.1520C>T (p.Ala507Val)
c.1517C>T (p.Ala506Val)
c.1556C>T (p.Ala519Val)
c.448-13245C>T (n.448-13245C>T)
c.*93+3184C>T (n.*93+3184C>T)
n.2202C>T
c.1529C>T (p.Ala510Val)
n.2125C>T
 ClinVar
22g.29681508C>ACA514190478NF2c.1509C>A (p.Ala503=)
c.*1138C>A (n.*1138C>A)
c.1644C>A (p.Ala548=)
c.1062C>A (p.Ala354=)
c.*1526C>A (n.*1526C>A)
c.1663C>A (n.1663C>A)
c.1395C>A (p.Ala465=)
c.1521C>A (p.Ala507=)
c.1518C>A (p.Ala506=)
c.1557C>A (p.Ala519=)
c.448-13244C>A (n.448-13244C>A)
c.*93+3185C>A (n.*93+3185C>A)
n.2203C>A
c.1530C>A (p.Ala510=)
n.2126C>A
 dbSNP
22g.29681508C>GCA514190475NF2c.1509C>G (p.Ala503=)
c.*1138C>G (n.*1138C>G)
c.1644C>G (p.Ala548=)
c.1062C>G (p.Ala354=)
c.*1526C>G (n.*1526C>G)
c.1663C>G (n.1663C>G)
c.1395C>G (p.Ala465=)
c.1521C>G (p.Ala507=)
c.1518C>G (p.Ala506=)
c.1557C>G (p.Ala519=)
c.448-13244C>G (n.448-13244C>G)
c.*93+3185C>G (n.*93+3185C>G)
n.2203C>G
c.1530C>G (p.Ala510=)
n.2126C>G
22g.29681508C>TCA514190473NF2c.1509C>T (p.Ala503=)
c.*1138C>T (n.*1138C>T)
c.1644C>T (p.Ala548=)
c.1062C>T (p.Ala354=)
c.*1526C>T (n.*1526C>T)
c.1663C>T (n.1663C>T)
c.1395C>T (p.Ala465=)
c.1521C>T (p.Ala507=)
c.1518C>T (p.Ala506=)
c.1557C>T (p.Ala519=)
c.448-13244C>T (n.448-13244C>T)
c.*93+3185C>T (n.*93+3185C>T)
n.2203C>T
c.1530C>T (p.Ala510=)
n.2126C>T
 ClinVar dbSNP gnomAD v4
22g.29681509T>ACA411150159NF2c.1510T>A (p.Leu504Met)
c.*1139T>A (n.*1139T>A)
c.1645T>A (p.Leu549Met)
c.1063T>A (p.Leu355Met)
c.*1527T>A (n.*1527T>A)
c.1664T>A (n.1664T>A)
c.1396T>A (p.Leu466Met)
c.1522T>A (p.Leu508Met)
c.1519T>A (p.Leu507Met)
c.1558T>A (p.Leu520Met)
c.448-13243T>A (n.448-13243T>A)
c.*93+3186T>A (n.*93+3186T>A)
n.2204T>A
c.1531T>A (p.Leu511Met)
n.2127T>A
22g.29681509T>CCA514190481NF2c.1510T>C (p.Leu504=)
c.*1139T>C (n.*1139T>C)
c.1645T>C (p.Leu549=)
c.1063T>C (p.Leu355=)
c.*1527T>C (n.*1527T>C)
c.1664T>C (n.1664T>C)
c.1396T>C (p.Leu466=)
c.1522T>C (p.Leu508=)
c.1519T>C (p.Leu507=)
c.1558T>C (p.Leu520=)
c.448-13243T>C (n.448-13243T>C)
c.*93+3186T>C (n.*93+3186T>C)
n.2204T>C
c.1531T>C (p.Leu511=)
n.2127T>C
22g.29681509T>GCA411150161NF2c.1510T>G (p.Leu504Val)
c.*1139T>G (n.*1139T>G)
c.1645T>G (p.Leu549Val)
c.1063T>G (p.Leu355Val)
c.*1527T>G (n.*1527T>G)
c.1664T>G (n.1664T>G)
c.1396T>G (p.Leu466Val)
c.1522T>G (p.Leu508Val)
c.1519T>G (p.Leu507Val)
c.1558T>G (p.Leu520Val)
c.448-13243T>G (n.448-13243T>G)
c.*93+3186T>G (n.*93+3186T>G)
n.2204T>G
c.1531T>G (p.Leu511Val)
n.2127T>G
22g.29681510delCA2695230531NF2c.1511del (p.Leu504Ter)
c.*1140del (n.*1140del)
c.1646del (p.Leu549Ter)
c.1064del (p.Leu355Ter)
c.*1528del (n.*1528del)
c.1665del (n.1665del)
c.1397del (p.Leu466Ter)
c.1523del (p.Leu508Ter)
c.1520del (p.Leu507Ter)
c.1559del (p.Leu520Ter)
c.448-13242del (n.448-13242del)
c.*93+3187del (n.*93+3187del)
n.2205del
c.1532del (p.Leu511Ter)
n.2128del
22g.29681510T>ACA411150163NF2c.1511T>A (p.Leu504Ter)
c.*1140T>A (n.*1140T>A)
c.1646T>A (p.Leu549Ter)
c.1064T>A (p.Leu355Ter)
c.*1528T>A (n.*1528T>A)
c.1665T>A (n.1665T>A)
c.1397T>A (p.Leu466Ter)
c.1523T>A (p.Leu508Ter)
c.1520T>A (p.Leu507Ter)
c.1559T>A (p.Leu520Ter)
c.448-13242T>A (n.448-13242T>A)
c.*93+3187T>A (n.*93+3187T>A)
n.2205T>A
c.1532T>A (p.Leu511Ter)
n.2128T>A
 ClinVar dbSNP
22g.29681510T>CCA411150165NF2c.1511T>C (p.Leu504Ser)
c.*1140T>C (n.*1140T>C)
c.1646T>C (p.Leu549Ser)
c.1064T>C (p.Leu355Ser)
c.*1528T>C (n.*1528T>C)
c.1665T>C (n.1665T>C)
c.1397T>C (p.Leu466Ser)
c.1523T>C (p.Leu508Ser)
c.1520T>C (p.Leu507Ser)
c.1559T>C (p.Leu520Ser)
c.448-13242T>C (n.448-13242T>C)
c.*93+3187T>C (n.*93+3187T>C)
n.2205T>C
c.1532T>C (p.Leu511Ser)
n.2128T>C
22g.29681510T>GCA411150167NF2c.1511T>G (p.Leu504Trp)
c.*1140T>G (n.*1140T>G)
c.1646T>G (p.Leu549Trp)
c.1064T>G (p.Leu355Trp)
c.*1528T>G (n.*1528T>G)
c.1665T>G (n.1665T>G)
c.1397T>G (p.Leu466Trp)
c.1523T>G (p.Leu508Trp)
c.1520T>G (p.Leu507Trp)
c.1559T>G (p.Leu520Trp)
c.448-13242T>G (n.448-13242T>G)
c.*93+3187T>G (n.*93+3187T>G)
n.2205T>G
c.1532T>G (p.Leu511Trp)
n.2128T>G
22g.29681510T=CA2400686825NF2c.1511T= (p.Leu504=)
c.*1140T= (n.*1140T=)
c.1646T= (p.Leu549=)
c.1064T= (p.Leu355=)
c.*1528T= (n.*1528T=)
c.1665T= (n.1665T=)
c.1397T= (p.Leu466=)
c.1523T= (p.Leu508=)
c.1520T= (p.Leu507=)
c.1559T= (p.Leu520=)
c.448-13242T= (n.448-13242T=)
c.*93+3187T= (n.*93+3187T=)
n.2205T=
c.1532T= (p.Leu511=)
n.2128T=
22g.29681511G>ACA514190491NF2c.1512G>A (p.Leu504=)
c.*1141G>A (n.*1141G>A)
c.1647G>A (p.Leu549=)
c.1065G>A (p.Leu355=)
c.*1529G>A (n.*1529G>A)
c.1666G>A (n.1666G>A)
c.1398G>A (p.Leu466=)
c.1524G>A (p.Leu508=)
c.1521G>A (p.Leu507=)
c.1560G>A (p.Leu520=)
c.448-13241G>A (n.448-13241G>A)
c.*93+3188G>A (n.*93+3188G>A)
n.2206G>A
c.1533G>A (p.Leu511=)
n.2129G>A
22g.29681511G>CCA411150169NF2c.1512G>C (p.Leu504Phe)
c.*1141G>C (n.*1141G>C)
c.1647G>C (p.Leu549Phe)
c.1065G>C (p.Leu355Phe)
c.*1529G>C (n.*1529G>C)
c.1666G>C (n.1666G>C)
c.1398G>C (p.Leu466Phe)
c.1524G>C (p.Leu508Phe)
c.1521G>C (p.Leu507Phe)
c.1560G>C (p.Leu520Phe)
c.448-13241G>C (n.448-13241G>C)
c.*93+3188G>C (n.*93+3188G>C)
n.2206G>C
c.1533G>C (p.Leu511Phe)
n.2129G>C
22g.29681511G>TCA411150171NF2c.1512G>T (p.Leu504Phe)
c.*1141G>T (n.*1141G>T)
c.1647G>T (p.Leu549Phe)
c.1065G>T (p.Leu355Phe)
c.*1529G>T (n.*1529G>T)
c.1666G>T (n.1666G>T)
c.1398G>T (p.Leu466Phe)
c.1524G>T (p.Leu508Phe)
c.1521G>T (p.Leu507Phe)
c.1560G>T (p.Leu520Phe)
c.448-13241G>T (n.448-13241G>T)
c.*93+3188G>T (n.*93+3188G>T)
n.2206G>T
c.1533G>T (p.Leu511Phe)
n.2129G>T
22g.29681512_29681533dupCA2656032904NF2c.1513_1534dup (p.Ala512GlufsTer15)
c.*1142_*1163dup (n.*1142_*1163dup)
c.1648_1669dup (p.Ala557GlufsTer15)
c.1066_1087dup (p.Ala363GlufsTer15)
c.*1530_*1551dup (n.*1530_*1551dup)
c.1667_1688dup (n.1667_1688dup)
c.1399_1420dup (p.Ala474GlufsTer15)
c.1525_1546dup (p.Ala516GlufsTer15)
c.1522_1543dup (p.Ala515GlufsTer15)
c.1561_1582dup (p.Ala528GlufsTer15)
c.448-13240_448-13219dup (n.448-13240_448-13219dup)
c.*93+3189_*93+3210dup (n.*93+3189_*93+3210dup)
n.2207_2228dup
c.1534_1555dup (p.Ala519GlufsTer15)
n.2130_2151dup
 gnomAD v4
22g.29681512A>CCA411150173NF2c.1513A>C (p.Lys505Gln)
c.*1142A>C (n.*1142A>C)
c.1648A>C (p.Lys550Gln)
c.1066A>C (p.Lys356Gln)
c.*1530A>C (n.*1530A>C)
c.1667A>C (n.1667A>C)
c.1399A>C (p.Lys467Gln)
c.1525A>C (p.Lys509Gln)
c.1522A>C (p.Lys508Gln)
c.1561A>C (p.Lys521Gln)
c.448-13240A>C (n.448-13240A>C)
c.*93+3189A>C (n.*93+3189A>C)
n.2207A>C
c.1534A>C (p.Lys512Gln)
n.2130A>C
22g.29681512A>GCA411150175NF2c.1513A>G (p.Lys505Glu)
c.*1142A>G (n.*1142A>G)
c.1648A>G (p.Lys550Glu)
c.1066A>G (p.Lys356Glu)
c.*1530A>G (n.*1530A>G)
c.1667A>G (n.1667A>G)
c.1399A>G (p.Lys467Glu)
c.1525A>G (p.Lys509Glu)
c.1522A>G (p.Lys508Glu)
c.1561A>G (p.Lys521Glu)
c.448-13240A>G (n.448-13240A>G)
c.*93+3189A>G (n.*93+3189A>G)
n.2207A>G
c.1534A>G (p.Lys512Glu)
n.2130A>G
22g.29681512A>TCA411150177NF2c.1513A>T (p.Lys505Ter)
c.*1142A>T (n.*1142A>T)
c.1648A>T (p.Lys550Ter)
c.1066A>T (p.Lys356Ter)
c.*1530A>T (n.*1530A>T)
c.1667A>T (n.1667A>T)
c.1399A>T (p.Lys467Ter)
c.1525A>T (p.Lys509Ter)
c.1522A>T (p.Lys508Ter)
c.1561A>T (p.Lys521Ter)
c.448-13240A>T (n.448-13240A>T)
c.*93+3189A>T (n.*93+3189A>T)
n.2207A>T
c.1534A>T (p.Lys512Ter)
n.2130A>T
22g.29681513A>CCA411150179NF2c.1514A>C (p.Lys505Thr)
c.*1143A>C (n.*1143A>C)
c.1649A>C (p.Lys550Thr)
c.1067A>C (p.Lys356Thr)
c.*1531A>C (n.*1531A>C)
c.1668A>C (n.1668A>C)
c.1400A>C (p.Lys467Thr)
c.1526A>C (p.Lys509Thr)
c.1523A>C (p.Lys508Thr)
c.1562A>C (p.Lys521Thr)
c.448-13239A>C (n.448-13239A>C)
c.*93+3190A>C (n.*93+3190A>C)
n.2208A>C
c.1535A>C (p.Lys512Thr)
n.2131A>C
22g.29681513A>GCA411150183NF2c.1514A>G (p.Lys505Arg)
c.*1143A>G (n.*1143A>G)
c.1649A>G (p.Lys550Arg)
c.1067A>G (p.Lys356Arg)
c.*1531A>G (n.*1531A>G)
c.1668A>G (n.1668A>G)
c.1400A>G (p.Lys467Arg)
c.1526A>G (p.Lys509Arg)
c.1523A>G (p.Lys508Arg)
c.1562A>G (p.Lys521Arg)
c.448-13239A>G (n.448-13239A>G)
c.*93+3190A>G (n.*93+3190A>G)
n.2208A>G
c.1535A>G (p.Lys512Arg)
n.2131A>G
22g.29681513A>TCA411150181NF2c.1514A>T (p.Lys505Ile)
c.*1143A>T (n.*1143A>T)
c.1649A>T (p.Lys550Ile)
c.1067A>T (p.Lys356Ile)
c.*1531A>T (n.*1531A>T)
c.1668A>T (n.1668A>T)
c.1400A>T (p.Lys467Ile)
c.1526A>T (p.Lys509Ile)
c.1523A>T (p.Lys508Ile)
c.1562A>T (p.Lys521Ile)
c.448-13239A>T (n.448-13239A>T)
c.*93+3190A>T (n.*93+3190A>T)
n.2208A>T
c.1535A>T (p.Lys512Ile)
n.2131A>T
22g.29681514A>CCA411150185NF2c.1515A>C (p.Lys505Asn)
c.*1144A>C (n.*1144A>C)
c.1650A>C (p.Lys550Asn)
c.1068A>C (p.Lys356Asn)
c.*1532A>C (n.*1532A>C)
c.1669A>C (n.1669A>C)
c.1401A>C (p.Lys467Asn)
c.1527A>C (p.Lys509Asn)
c.1524A>C (p.Lys508Asn)
c.1563A>C (p.Lys521Asn)
c.448-13238A>C (n.448-13238A>C)
c.*93+3191A>C (n.*93+3191A>C)
n.2209A>C
c.1536A>C (p.Lys512Asn)
n.2132A>C
22g.29681514A>GCA514190508NF2c.1515A>G (p.Lys505=)
c.*1144A>G (n.*1144A>G)
c.1650A>G (p.Lys550=)
c.1068A>G (p.Lys356=)
c.*1532A>G (n.*1532A>G)
c.1669A>G (n.1669A>G)
c.1401A>G (p.Lys467=)
c.1527A>G (p.Lys509=)
c.1524A>G (p.Lys508=)
c.1563A>G (p.Lys521=)
c.448-13238A>G (n.448-13238A>G)
c.*93+3191A>G (n.*93+3191A>G)
n.2209A>G
c.1536A>G (p.Lys512=)
n.2132A>G
 gnomAD v4
22g.29681514A>TCA411150187NF2c.1515A>T (p.Lys505Asn)
c.*1144A>T (n.*1144A>T)
c.1650A>T (p.Lys550Asn)
c.1068A>T (p.Lys356Asn)
c.*1532A>T (n.*1532A>T)
c.1669A>T (n.1669A>T)
c.1401A>T (p.Lys467Asn)
c.1527A>T (p.Lys509Asn)
c.1524A>T (p.Lys508Asn)
c.1563A>T (p.Lys521Asn)
c.448-13238A>T (n.448-13238A>T)
c.*93+3191A>T (n.*93+3191A>T)
n.2209A>T
c.1536A>T (p.Lys512Asn)
n.2132A>T
 ClinVar
22g.29681515C>ACA411150189NF2c.1516C>A (p.Leu506Met)
c.*1145C>A (n.*1145C>A)
c.1651C>A (p.Leu551Met)
c.1069C>A (p.Leu357Met)
c.*1533C>A (n.*1533C>A)
c.1670C>A (n.1670C>A)
c.1402C>A (p.Leu468Met)
c.1528C>A (p.Leu510Met)
c.1525C>A (p.Leu509Met)
c.1564C>A (p.Leu522Met)
c.448-13237C>A (n.448-13237C>A)
c.*93+3192C>A (n.*93+3192C>A)
n.2210C>A
c.1537C>A (p.Leu513Met)
n.2133C>A
22g.29681515C>GCA411150191NF2c.1516C>G (p.Leu506Val)
c.*1145C>G (n.*1145C>G)
c.1651C>G (p.Leu551Val)
c.1069C>G (p.Leu357Val)
c.*1533C>G (n.*1533C>G)
c.1670C>G (n.1670C>G)
c.1402C>G (p.Leu468Val)
c.1528C>G (p.Leu510Val)
c.1525C>G (p.Leu509Val)
c.1564C>G (p.Leu522Val)
c.448-13237C>G (n.448-13237C>G)
c.*93+3192C>G (n.*93+3192C>G)
n.2210C>G
c.1537C>G (p.Leu513Val)
n.2133C>G
 gnomAD v4
22g.29681515C>TCA514190512NF2c.1516C>T (p.Leu506=)
c.*1145C>T (n.*1145C>T)
c.1651C>T (p.Leu551=)
c.1069C>T (p.Leu357=)
c.*1533C>T (n.*1533C>T)
c.1670C>T (n.1670C>T)
c.1402C>T (p.Leu468=)
c.1528C>T (p.Leu510=)
c.1525C>T (p.Leu509=)
c.1564C>T (p.Leu522=)
c.448-13237C>T (n.448-13237C>T)
c.*93+3192C>T (n.*93+3192C>T)
n.2210C>T
c.1537C>T (p.Leu513=)
n.2133C>T
22g.29681516T>ACA411150193NF2c.1517T>A (p.Leu506Gln)
c.*1146T>A (n.*1146T>A)
c.1652T>A (p.Leu551Gln)
c.1070T>A (p.Leu357Gln)
c.*1534T>A (n.*1534T>A)
c.1671T>A (n.1671T>A)
c.1403T>A (p.Leu468Gln)
c.1529T>A (p.Leu510Gln)
c.1526T>A (p.Leu509Gln)
c.1565T>A (p.Leu522Gln)
c.448-13236T>A (n.448-13236T>A)
c.*93+3193T>A (n.*93+3193T>A)
n.2211T>A
c.1538T>A (p.Leu513Gln)
n.2134T>A
22g.29681516T>CCA411150195NF2c.1517T>C (p.Leu506Pro)
c.*1146T>C (n.*1146T>C)
c.1652T>C (p.Leu551Pro)
c.1070T>C (p.Leu357Pro)
c.*1534T>C (n.*1534T>C)
c.1671T>C (n.1671T>C)
c.1403T>C (p.Leu468Pro)
c.1529T>C (p.Leu510Pro)
c.1526T>C (p.Leu509Pro)
c.1565T>C (p.Leu522Pro)
c.448-13236T>C (n.448-13236T>C)
c.*93+3193T>C (n.*93+3193T>C)
n.2211T>C
c.1538T>C (p.Leu513Pro)
n.2134T>C
22g.29681516T>GCA411150197NF2c.1517T>G (p.Leu506Arg)
c.*1146T>G (n.*1146T>G)
c.1652T>G (p.Leu551Arg)
c.1070T>G (p.Leu357Arg)
c.*1534T>G (n.*1534T>G)
c.1671T>G (n.1671T>G)
c.1403T>G (p.Leu468Arg)
c.1529T>G (p.Leu510Arg)
c.1526T>G (p.Leu509Arg)
c.1565T>G (p.Leu522Arg)
c.448-13236T>G (n.448-13236T>G)
c.*93+3193T>G (n.*93+3193T>G)
n.2211T>G
c.1538T>G (p.Leu513Arg)
n.2134T>G
22g.29681516_29681519delCA2580615292NF2c.1517_1520del (p.Leu506GlnfsTer?)
c.*1146_*1149del (n.*1146_*1149del)
c.1652_1655del (p.Leu551GlnfsTer?)
c.1070_1073del (p.Leu357GlnfsTer?)
c.*1534_*1537del (n.*1534_*1537del)
c.1671_1674del (n.1671_1674del)
c.1403_1406del (p.Leu468GlnfsTer?)
c.1529_1532del (p.Leu510GlnfsTer?)
c.1526_1529del (p.Leu509GlnfsTer?)
c.1565_1568del (p.Leu522GlnfsTer?)
c.448-13236_448-13233del (n.448-13236_448-13233del)
c.*93+3193_*93+3196del (n.*93+3193_*93+3196del)
n.2211_2214del
c.1538_1541del (p.Leu513GlnfsTer?)
n.2134_2137del
 ClinVar
22g.29681517G>ACA514190522NF2c.1518G>A (p.Leu506=)
c.*1147G>A (n.*1147G>A)
c.1653G>A (p.Leu551=)
c.1071G>A (p.Leu357=)
c.*1535G>A (n.*1535G>A)
c.1672G>A (n.1672G>A)
c.1404G>A (p.Leu468=)
c.1530G>A (p.Leu510=)
c.1527G>A (p.Leu509=)
c.1566G>A (p.Leu522=)
c.448-13235G>A (n.448-13235G>A)
c.*93+3194G>A (n.*93+3194G>A)
n.2212G>A
c.1539G>A (p.Leu513=)
n.2135G>A
 ClinVar dbSNP
22g.29681517G>CCA514190523NF2c.1518G>C (p.Leu506=)
c.*1147G>C (n.*1147G>C)
c.1653G>C (p.Leu551=)
c.1071G>C (p.Leu357=)
c.*1535G>C (n.*1535G>C)
c.1672G>C (n.1672G>C)
c.1404G>C (p.Leu468=)
c.1530G>C (p.Leu510=)
c.1527G>C (p.Leu509=)
c.1566G>C (p.Leu522=)
c.448-13235G>C (n.448-13235G>C)
c.*93+3194G>C (n.*93+3194G>C)
n.2212G>C
c.1539G>C (p.Leu513=)
n.2135G>C
22g.29681517G=CA2400686826NF2c.1518G= (p.Leu506=)
c.*1147G= (n.*1147G=)
c.1653G= (p.Leu551=)
c.1071G= (p.Leu357=)
c.*1535G= (n.*1535G=)
c.1672G= (n.1672G=)
c.1404G= (p.Leu468=)
c.1530G= (p.Leu510=)
c.1527G= (p.Leu509=)
c.1566G= (p.Leu522=)
c.448-13235G= (n.448-13235G=)
c.*93+3194G= (n.*93+3194G=)
n.2212G=
c.1539G= (p.Leu513=)
n.2135G=
22g.29681517G>TCA514190526NF2c.1518G>T (p.Leu506=)
c.*1147G>T (n.*1147G>T)
c.1653G>T (p.Leu551=)
c.1071G>T (p.Leu357=)
c.*1535G>T (n.*1535G>T)
c.1672G>T (n.1672G>T)
c.1404G>T (p.Leu468=)
c.1530G>T (p.Leu510=)
c.1527G>T (p.Leu509=)
c.1566G>T (p.Leu522=)
c.448-13235G>T (n.448-13235G>T)
c.*93+3194G>T (n.*93+3194G>T)
n.2212G>T
c.1539G>T (p.Leu513=)
n.2135G>T
22g.29681518A>CCA411150198NF2c.1519A>C (p.Lys507Gln)
c.*1148A>C (n.*1148A>C)
c.1654A>C (p.Lys552Gln)
c.1072A>C (p.Lys358Gln)
c.*1536A>C (n.*1536A>C)
c.1673A>C (n.1673A>C)
c.1405A>C (p.Lys469Gln)
c.1531A>C (p.Lys511Gln)
c.1528A>C (p.Lys510Gln)
c.1567A>C (p.Lys523Gln)
c.448-13234A>C (n.448-13234A>C)
c.*93+3195A>C (n.*93+3195A>C)
n.2213A>C
c.1540A>C (p.Lys514Gln)
n.2136A>C
22g.29681518A>GCA411150200NF2c.1519A>G (p.Lys507Glu)
c.*1148A>G (n.*1148A>G)
c.1654A>G (p.Lys552Glu)
c.1072A>G (p.Lys358Glu)
c.*1536A>G (n.*1536A>G)
c.1673A>G (n.1673A>G)
c.1405A>G (p.Lys469Glu)
c.1531A>G (p.Lys511Glu)
c.1528A>G (p.Lys510Glu)
c.1567A>G (p.Lys523Glu)
c.448-13234A>G (n.448-13234A>G)
c.*93+3195A>G (n.*93+3195A>G)
n.2213A>G
c.1540A>G (p.Lys514Glu)
n.2136A>G
22g.29681518A>TCA411150202NF2c.1519A>T (p.Lys507Ter)
c.*1148A>T (n.*1148A>T)
c.1654A>T (p.Lys552Ter)
c.1072A>T (p.Lys358Ter)
c.*1536A>T (n.*1536A>T)
c.1673A>T (n.1673A>T)
c.1405A>T (p.Lys469Ter)
c.1531A>T (p.Lys511Ter)
c.1528A>T (p.Lys510Ter)
c.1567A>T (p.Lys523Ter)
c.448-13234A>T (n.448-13234A>T)
c.*93+3195A>T (n.*93+3195A>T)
n.2213A>T
c.1540A>T (p.Lys514Ter)
n.2136A>T
22g.29681519A>CCA411150205NF2c.1520A>C (p.Lys507Thr)
c.*1149A>C (n.*1149A>C)
c.1655A>C (p.Lys552Thr)
c.1073A>C (p.Lys358Thr)
c.*1537A>C (n.*1537A>C)
c.1674A>C (n.1674A>C)
c.1406A>C (p.Lys469Thr)
c.1532A>C (p.Lys511Thr)
c.1529A>C (p.Lys510Thr)
c.1568A>C (p.Lys523Thr)
c.448-13233A>C (n.448-13233A>C)
c.*93+3196A>C (n.*93+3196A>C)
n.2214A>C
c.1541A>C (p.Lys514Thr)
n.2137A>C
22g.29681519A>GCA411150207NF2c.1520A>G (p.Lys507Arg)
c.*1149A>G (n.*1149A>G)
c.1655A>G (p.Lys552Arg)
c.1073A>G (p.Lys358Arg)
c.*1537A>G (n.*1537A>G)
c.1674A>G (n.1674A>G)
c.1406A>G (p.Lys469Arg)
c.1532A>G (p.Lys511Arg)
c.1529A>G (p.Lys510Arg)
c.1568A>G (p.Lys523Arg)
c.448-13233A>G (n.448-13233A>G)
c.*93+3196A>G (n.*93+3196A>G)
n.2214A>G
c.1541A>G (p.Lys514Arg)
n.2137A>G
 ClinVar
22g.29681519A>TCA411150204NF2c.1520A>T (p.Lys507Ile)
c.*1149A>T (n.*1149A>T)
c.1655A>T (p.Lys552Ile)
c.1073A>T (p.Lys358Ile)
c.*1537A>T (n.*1537A>T)
c.1674A>T (n.1674A>T)
c.1406A>T (p.Lys469Ile)
c.1532A>T (p.Lys511Ile)
c.1529A>T (p.Lys510Ile)
c.1568A>T (p.Lys523Ile)
c.448-13233A>T (n.448-13233A>T)
c.*93+3196A>T (n.*93+3196A>T)
n.2214A>T
c.1541A>T (p.Lys514Ile)
n.2137A>T
22g.29681519_29681521delinsAAGCA2400686827NF2c.1520_1522delinsAAG (p.Lys507=)
c.*1149_*1151delinsAAG (n.*1149_*1151delinsAAG)
c.1655_1657delinsAAG (p.Lys552=)
c.1073_1075delinsAAG (p.Lys358=)
c.*1537_*1539delinsAAG (n.*1537_*1539delinsAAG)
c.1674_1676delinsAAG (n.1674_1676delinsAAG)
c.1406_1408delinsAAG (p.Lys469=)
c.1532_1534delinsAAG (p.Lys511=)
c.1529_1531delinsAAG (p.Lys510=)
c.1568_1570delinsAAG (p.Lys523=)
c.448-13233_448-13231delinsAAG (n.448-13233_448-13231delinsAAG)
c.*93+3196_*93+3198delinsAAG (n.*93+3196_*93+3198delinsAAG)
n.2214_2216delinsAAG
c.1541_1543delinsAAG (p.Lys514=)
n.2137_2139delinsAAG
22g.29681520A>CCA411150212NF2c.1521A>C (p.Lys507Asn)
c.*1150A>C (n.*1150A>C)
c.1656A>C (p.Lys552Asn)
c.1074A>C (p.Lys358Asn)
c.*1538A>C (n.*1538A>C)
c.1675A>C (n.1675A>C)
c.1407A>C (p.Lys469Asn)
c.1533A>C (p.Lys511Asn)
c.1530A>C (p.Lys510Asn)
c.1569A>C (p.Lys523Asn)
c.448-13232A>C (n.448-13232A>C)
c.*93+3197A>C (n.*93+3197A>C)
n.2215A>C
c.1542A>C (p.Lys514Asn)
n.2138A>C
22g.29681520A>GCA514190541NF2c.1521A>G (p.Lys507=)
c.*1150A>G (n.*1150A>G)
c.1656A>G (p.Lys552=)
c.1074A>G (p.Lys358=)
c.*1538A>G (n.*1538A>G)
c.1675A>G (n.1675A>G)
c.1407A>G (p.Lys469=)
c.1533A>G (p.Lys511=)
c.1530A>G (p.Lys510=)
c.1569A>G (p.Lys523=)
c.448-13232A>G (n.448-13232A>G)
c.*93+3197A>G (n.*93+3197A>G)
n.2215A>G
c.1542A>G (p.Lys514=)
n.2138A>G
 gnomAD v4
22g.29681520A>TCA411150210NF2c.1521A>T (p.Lys507Asn)
c.*1150A>T (n.*1150A>T)
c.1656A>T (p.Lys552Asn)
c.1074A>T (p.Lys358Asn)
c.*1538A>T (n.*1538A>T)
c.1675A>T (n.1675A>T)
c.1407A>T (p.Lys469Asn)
c.1533A>T (p.Lys511Asn)
c.1530A>T (p.Lys510Asn)
c.1569A>T (p.Lys523Asn)
c.448-13232A>T (n.448-13232A>T)
c.*93+3197A>T (n.*93+3197A>T)
n.2215A>T
c.1542A>T (p.Lys514Asn)
n.2138A>T
22g.29681524_29681525delCA915952875NF2c.1525_1526del (p.Arg509GlyfsTer10)
c.*1154_*1155del (n.*1154_*1155del)
c.1660_1661del (p.Arg554GlyfsTer10)
c.1078_1079del (p.Arg360GlyfsTer10)
c.*1542_*1543del (n.*1542_*1543del)
c.1679_1680del (n.1679_1680del)
c.1411_1412del (p.Arg471GlyfsTer10)
c.1537_1538del (p.Arg513GlyfsTer10)
c.1534_1535del (p.Arg512GlyfsTer10)
c.1573_1574del (p.Arg525GlyfsTer10)
c.448-13228_448-13227del (n.448-13228_448-13227del)
c.*93+3201_*93+3202del (n.*93+3201_*93+3202del)
n.2219_2220del
c.1546_1547del (p.Arg516GlyfsTer10)
n.2142_2143del
 ClinVar dbSNP
22g.29681521G>ACA411150215NF2c.1522G>A (p.Glu508Lys)
c.*1151G>A (n.*1151G>A)
c.1657G>A (p.Glu553Lys)
c.1075G>A (p.Glu359Lys)
c.*1539G>A (n.*1539G>A)
c.1676G>A (n.1676G>A)
c.1408G>A (p.Glu470Lys)
c.1534G>A (p.Glu512Lys)
c.1531G>A (p.Glu511Lys)
c.1570G>A (p.Glu524Lys)
c.448-13231G>A (n.448-13231G>A)
c.*93+3198G>A (n.*93+3198G>A)
n.2216G>A
c.1543G>A (p.Glu515Lys)
n.2139G>A
22g.29681521G>CCA411150217NF2c.1522G>C (p.Glu508Gln)
c.*1151G>C (n.*1151G>C)
c.1657G>C (p.Glu553Gln)
c.1075G>C (p.Glu359Gln)
c.*1539G>C (n.*1539G>C)
c.1676G>C (n.1676G>C)
c.1408G>C (p.Glu470Gln)
c.1534G>C (p.Glu512Gln)
c.1531G>C (p.Glu511Gln)
c.1570G>C (p.Glu524Gln)
c.448-13231G>C (n.448-13231G>C)
c.*93+3198G>C (n.*93+3198G>C)
n.2216G>C
c.1543G>C (p.Glu515Gln)
n.2139G>C
22g.29681521G>TCA411150218NF2c.1522G>T (p.Glu508Ter)
c.*1151G>T (n.*1151G>T)
c.1657G>T (p.Glu553Ter)
c.1075G>T (p.Glu359Ter)
c.*1539G>T (n.*1539G>T)
c.1676G>T (n.1676G>T)
c.1408G>T (p.Glu470Ter)
c.1534G>T (p.Glu512Ter)
c.1531G>T (p.Glu511Ter)
c.1570G>T (p.Glu524Ter)
c.448-13231G>T (n.448-13231G>T)
c.*93+3198G>T (n.*93+3198G>T)
n.2216G>T
c.1543G>T (p.Glu515Ter)
n.2139G>T
22g.29681522A>CCA411150220NF2c.1523A>C (p.Glu508Ala)
c.*1152A>C (n.*1152A>C)
c.1658A>C (p.Glu553Ala)
c.1076A>C (p.Glu359Ala)
c.*1540A>C (n.*1540A>C)
c.1677A>C (n.1677A>C)
c.1409A>C (p.Glu470Ala)
c.1535A>C (p.Glu512Ala)
c.1532A>C (p.Glu511Ala)
c.1571A>C (p.Glu524Ala)
c.448-13230A>C (n.448-13230A>C)
c.*93+3199A>C (n.*93+3199A>C)
n.2217A>C
c.1544A>C (p.Glu515Ala)
n.2140A>C
 ClinVar
22g.29681522A>GCA411150222NF2c.1523A>G (p.Glu508Gly)
c.*1152A>G (n.*1152A>G)
c.1658A>G (p.Glu553Gly)
c.1076A>G (p.Glu359Gly)
c.*1540A>G (n.*1540A>G)
c.1677A>G (n.1677A>G)
c.1409A>G (p.Glu470Gly)
c.1535A>G (p.Glu512Gly)
c.1532A>G (p.Glu511Gly)
c.1571A>G (p.Glu524Gly)
c.448-13230A>G (n.448-13230A>G)
c.*93+3199A>G (n.*93+3199A>G)
n.2217A>G
c.1544A>G (p.Glu515Gly)
n.2140A>G
 ClinVar dbSNP gnomAD v4
22g.29681522A>TCA411150224NF2c.1523A>T (p.Glu508Val)
c.*1152A>T (n.*1152A>T)
c.1658A>T (p.Glu553Val)
c.1076A>T (p.Glu359Val)
c.*1540A>T (n.*1540A>T)
c.1677A>T (n.1677A>T)
c.1409A>T (p.Glu470Val)
c.1535A>T (p.Glu512Val)
c.1532A>T (p.Glu511Val)
c.1571A>T (p.Glu524Val)
c.448-13230A>T (n.448-13230A>T)
c.*93+3199A>T (n.*93+3199A>T)
n.2217A>T
c.1544A>T (p.Glu515Val)
n.2140A>T
22g.29681523G>ACA514190555NF2c.1524G>A (p.Glu508=)
c.*1153G>A (n.*1153G>A)
c.1659G>A (p.Glu553=)
c.1077G>A (p.Glu359=)
c.*1541G>A (n.*1541G>A)
c.1678G>A (n.1678G>A)
c.1410G>A (p.Glu470=)
c.1536G>A (p.Glu512=)
c.1533G>A (p.Glu511=)
c.1572G>A (p.Glu524=)
c.448-13229G>A (n.448-13229G>A)
c.*93+3200G>A (n.*93+3200G>A)
n.2218G>A
c.1545G>A (p.Glu515=)
n.2141G>A
22g.29681523G>CCA411150227NF2c.1524G>C (p.Glu508Asp)
c.*1153G>C (n.*1153G>C)
c.1659G>C (p.Glu553Asp)
c.1077G>C (p.Glu359Asp)
c.*1541G>C (n.*1541G>C)
c.1678G>C (n.1678G>C)
c.1410G>C (p.Glu470Asp)
c.1536G>C (p.Glu512Asp)
c.1533G>C (p.Glu511Asp)
c.1572G>C (p.Glu524Asp)
c.448-13229G>C (n.448-13229G>C)
c.*93+3200G>C (n.*93+3200G>C)
n.2218G>C
c.1545G>C (p.Glu515Asp)
n.2141G>C
22g.29681523G>TCA411150229NF2c.1524G>T (p.Glu508Asp)
c.*1153G>T (n.*1153G>T)
c.1659G>T (p.Glu553Asp)
c.1077G>T (p.Glu359Asp)
c.*1541G>T (n.*1541G>T)
c.1678G>T (n.1678G>T)
c.1410G>T (p.Glu470Asp)
c.1536G>T (p.Glu512Asp)
c.1533G>T (p.Glu511Asp)
c.1572G>T (p.Glu524Asp)
c.448-13229G>T (n.448-13229G>T)
c.*93+3200G>T (n.*93+3200G>T)
n.2218G>T
c.1545G>T (p.Glu515Asp)
n.2141G>T
22g.29681524A=CA2400686828NF2c.1525A= (p.Arg509=)
c.*1154A= (n.*1154A=)
c.1660A= (p.Arg554=)
c.1078A= (p.Arg360=)
c.*1542A= (n.*1542A=)
c.1679A= (n.1679A=)
c.1411A= (p.Arg471=)
c.1537A= (p.Arg513=)
c.1534A= (p.Arg512=)
c.1573A= (p.Arg525=)
c.448-13228A= (n.448-13228A=)
c.*93+3201A= (n.*93+3201A=)
n.2219A=
c.1546A= (p.Arg516=)
n.2142A=
22g.29681524A>CCA514190561NF2c.1525A>C (p.Arg509=)
c.*1154A>C (n.*1154A>C)
c.1660A>C (p.Arg554=)
c.1078A>C (p.Arg360=)
c.*1542A>C (n.*1542A>C)
c.1679A>C (n.1679A>C)
c.1411A>C (p.Arg471=)
c.1537A>C (p.Arg513=)
c.1534A>C (p.Arg512=)
c.1573A>C (p.Arg525=)
c.448-13228A>C (n.448-13228A>C)
c.*93+3201A>C (n.*93+3201A>C)
n.2219A>C
c.1546A>C (p.Arg516=)
n.2142A>C
 ClinVar
22g.29681524A>GCA411150232NF2c.1525A>G (p.Arg509Gly)
c.*1154A>G (n.*1154A>G)
c.1660A>G (p.Arg554Gly)
c.1078A>G (p.Arg360Gly)
c.*1542A>G (n.*1542A>G)
c.1679A>G (n.1679A>G)
c.1411A>G (p.Arg471Gly)
c.1537A>G (p.Arg513Gly)
c.1534A>G (p.Arg512Gly)
c.1573A>G (p.Arg525Gly)
c.448-13228A>G (n.448-13228A>G)
c.*93+3201A>G (n.*93+3201A>G)
n.2219A>G
c.1546A>G (p.Arg516Gly)
n.2142A>G
 ClinVar dbSNP gnomAD v4
22g.29681524A>TCA411150234NF2c.1525A>T (p.Arg509Trp)
c.*1154A>T (n.*1154A>T)
c.1660A>T (p.Arg554Trp)
c.1078A>T (p.Arg360Trp)
c.*1542A>T (n.*1542A>T)
c.1679A>T (n.1679A>T)
c.1411A>T (p.Arg471Trp)
c.1537A>T (p.Arg513Trp)
c.1534A>T (p.Arg512Trp)
c.1573A>T (p.Arg525Trp)
c.448-13228A>T (n.448-13228A>T)
c.*93+3201A>T (n.*93+3201A>T)
n.2219A>T
c.1546A>T (p.Arg516Trp)
n.2142A>T
 ClinVar dbSNP
22g.29681525G>ACA411150239NF2c.1526G>A (p.Arg509Lys)
c.*1155G>A (n.*1155G>A)
c.1661G>A (p.Arg554Lys)
c.1079G>A (p.Arg360Lys)
c.*1543G>A (n.*1543G>A)
c.1680G>A (n.1680G>A)
c.1412G>A (p.Arg471Lys)
c.1538G>A (p.Arg513Lys)
c.1535G>A (p.Arg512Lys)
c.1574G>A (p.Arg525Lys)
c.448-13227G>A (n.448-13227G>A)
c.*93+3202G>A (n.*93+3202G>A)
n.2220G>A
c.1547G>A (p.Arg516Lys)
n.2143G>A
 ClinVar dbSNP gnomAD v4
22g.29681525G>CCA411150238NF2c.1526G>C (p.Arg509Thr)
c.*1155G>C (n.*1155G>C)
c.1661G>C (p.Arg554Thr)
c.1079G>C (p.Arg360Thr)
c.*1543G>C (n.*1543G>C)
c.1680G>C (n.1680G>C)
c.1412G>C (p.Arg471Thr)
c.1538G>C (p.Arg513Thr)
c.1535G>C (p.Arg512Thr)
c.1574G>C (p.Arg525Thr)
c.448-13227G>C (n.448-13227G>C)
c.*93+3202G>C (n.*93+3202G>C)
n.2220G>C
c.1547G>C (p.Arg516Thr)
n.2143G>C
 ClinVar gnomAD v4
22g.29681525G=CA2400686829NF2c.1526G= (p.Arg509=)
c.*1155G= (n.*1155G=)
c.1661G= (p.Arg554=)
c.1079G= (p.Arg360=)
c.*1543G= (n.*1543G=)
c.1680G= (n.1680G=)
c.1412G= (p.Arg471=)
c.1538G= (p.Arg513=)
c.1535G= (p.Arg512=)
c.1574G= (p.Arg525=)
c.448-13227G= (n.448-13227G=)
c.*93+3202G= (n.*93+3202G=)
n.2220G=
c.1547G= (p.Arg516=)
n.2143G=
22g.29681525G>TCA411150236NF2c.1526G>T (p.Arg509Met)
c.*1155G>T (n.*1155G>T)
c.1661G>T (p.Arg554Met)
c.1079G>T (p.Arg360Met)
c.*1543G>T (n.*1543G>T)
c.1680G>T (n.1680G>T)
c.1412G>T (p.Arg471Met)
c.1538G>T (p.Arg513Met)
c.1535G>T (p.Arg512Met)
c.1574G>T (p.Arg525Met)
c.448-13227G>T (n.448-13227G>T)
c.*93+3202G>T (n.*93+3202G>T)
n.2220G>T
c.1547G>T (p.Arg516Met)
n.2143G>T
22g.29681527delCA2656032905NF2c.1528del (p.Glu510ArgfsTer?)
c.*1157del (n.*1157del)
c.1663del (p.Glu555ArgfsTer?)
c.1081del (p.Glu361ArgfsTer?)
c.*1545del (n.*1545del)
c.1682del (n.1682del)
c.1414del (p.Glu472ArgfsTer?)
c.1540del (p.Glu514ArgfsTer?)
c.1537del (p.Glu513ArgfsTer?)
c.1576del (p.Glu526ArgfsTer?)
c.448-13225del (n.448-13225del)
c.*93+3204del (n.*93+3204del)
n.2222del
c.1549del (p.Glu517ArgfsTer?)
n.2145del
 gnomAD v4
22g.29681526G>ACA514190572NF2c.1527G>A (p.Arg509=)
c.*1156G>A (n.*1156G>A)
c.1662G>A (p.Arg554=)
c.1080G>A (p.Arg360=)
c.*1544G>A (n.*1544G>A)
c.1681G>A (n.1681G>A)
c.1413G>A (p.Arg471=)
c.1539G>A (p.Arg513=)
c.1536G>A (p.Arg512=)
c.1575G>A (p.Arg525=)
c.448-13226G>A (n.448-13226G>A)
c.*93+3203G>A (n.*93+3203G>A)
n.2221G>A
c.1548G>A (p.Arg516=)
n.2144G>A
 gnomAD v4
22g.29681526G>CCA411150241NF2c.1527G>C (p.Arg509Ser)
c.*1156G>C (n.*1156G>C)
c.1662G>C (p.Arg554Ser)
c.1080G>C (p.Arg360Ser)
c.*1544G>C (n.*1544G>C)
c.1681G>C (n.1681G>C)
c.1413G>C (p.Arg471Ser)
c.1539G>C (p.Arg513Ser)
c.1536G>C (p.Arg512Ser)
c.1575G>C (p.Arg525Ser)
c.448-13226G>C (n.448-13226G>C)
c.*93+3203G>C (n.*93+3203G>C)
n.2221G>C
c.1548G>C (p.Arg516Ser)
n.2144G>C
22g.29681526G>TCA411150242NF2c.1527G>T (p.Arg509Ser)
c.*1156G>T (n.*1156G>T)
c.1662G>T (p.Arg554Ser)
c.1080G>T (p.Arg360Ser)
c.*1544G>T (n.*1544G>T)
c.1681G>T (n.1681G>T)
c.1413G>T (p.Arg471Ser)
c.1539G>T (p.Arg513Ser)
c.1536G>T (p.Arg512Ser)
c.1575G>T (p.Arg525Ser)
c.448-13226G>T (n.448-13226G>T)
c.*93+3203G>T (n.*93+3203G>T)
n.2221G>T
c.1548G>T (p.Arg516Ser)
n.2144G>T
22g.29681527G>ACA411150245NF2c.1528G>A (p.Glu510Lys)
c.*1157G>A (n.*1157G>A)
c.1663G>A (p.Glu555Lys)
c.1081G>A (p.Glu361Lys)
c.*1545G>A (n.*1545G>A)
c.1682G>A (n.1682G>A)
c.1414G>A (p.Glu472Lys)
c.1540G>A (p.Glu514Lys)
c.1537G>A (p.Glu513Lys)
c.1576G>A (p.Glu526Lys)
c.448-13225G>A (n.448-13225G>A)
c.*93+3204G>A (n.*93+3204G>A)
n.2222G>A
c.1549G>A (p.Glu517Lys)
n.2145G>A
 ClinVar
22g.29681527G>CCA411150247NF2c.1528G>C (p.Glu510Gln)
c.*1157G>C (n.*1157G>C)
c.1663G>C (p.Glu555Gln)
c.1081G>C (p.Glu361Gln)
c.*1545G>C (n.*1545G>C)
c.1682G>C (n.1682G>C)
c.1414G>C (p.Glu472Gln)
c.1540G>C (p.Glu514Gln)
c.1537G>C (p.Glu513Gln)
c.1576G>C (p.Glu526Gln)
c.448-13225G>C (n.448-13225G>C)
c.*93+3204G>C (n.*93+3204G>C)
n.2222G>C
c.1549G>C (p.Glu517Gln)
n.2145G>C
 ClinVar gnomAD v4
22g.29681527G>TCA411150249NF2c.1528G>T (p.Glu510Ter)
c.*1157G>T (n.*1157G>T)
c.1663G>T (p.Glu555Ter)
c.1081G>T (p.Glu361Ter)
c.*1545G>T (n.*1545G>T)
c.1682G>T (n.1682G>T)
c.1414G>T (p.Glu472Ter)
c.1540G>T (p.Glu514Ter)
c.1537G>T (p.Glu513Ter)
c.1576G>T (p.Glu526Ter)
c.448-13225G>T (n.448-13225G>T)
c.*93+3204G>T (n.*93+3204G>T)
n.2222G>T
c.1549G>T (p.Glu517Ter)
n.2145G>T
22g.29681528A>CCA411150252NF2c.1529A>C (p.Glu510Ala)
c.*1158A>C (n.*1158A>C)
c.1664A>C (p.Glu555Ala)
c.1082A>C (p.Glu361Ala)
c.*1546A>C (n.*1546A>C)
c.1683A>C (n.1683A>C)
c.1415A>C (p.Glu472Ala)
c.1541A>C (p.Glu514Ala)
c.1538A>C (p.Glu513Ala)
c.1577A>C (p.Glu526Ala)
c.448-13224A>C (n.448-13224A>C)
c.*93+3205A>C (n.*93+3205A>C)
n.2223A>C
c.1550A>C (p.Glu517Ala)
n.2146A>C
22g.29681528A>GCA411150254NF2c.1529A>G (p.Glu510Gly)
c.*1158A>G (n.*1158A>G)
c.1664A>G (p.Glu555Gly)
c.1082A>G (p.Glu361Gly)
c.*1546A>G (n.*1546A>G)
c.1683A>G (n.1683A>G)
c.1415A>G (p.Glu472Gly)
c.1541A>G (p.Glu514Gly)
c.1538A>G (p.Glu513Gly)
c.1577A>G (p.Glu526Gly)
c.448-13224A>G (n.448-13224A>G)
c.*93+3205A>G (n.*93+3205A>G)
n.2223A>G
c.1550A>G (p.Glu517Gly)
n.2146A>G
22g.29681528A>TCA411150256NF2c.1529A>T (p.Glu510Val)
c.*1158A>T (n.*1158A>T)
c.1664A>T (p.Glu555Val)
c.1082A>T (p.Glu361Val)
c.*1546A>T (n.*1546A>T)
c.1683A>T (n.1683A>T)
c.1415A>T (p.Glu472Val)
c.1541A>T (p.Glu514Val)
c.1538A>T (p.Glu513Val)
c.1577A>T (p.Glu526Val)
c.448-13224A>T (n.448-13224A>T)
c.*93+3205A>T (n.*93+3205A>T)
n.2223A>T
c.1550A>T (p.Glu517Val)
n.2146A>T
22g.29681529G>ACA514190587NF2c.1530G>A (p.Glu510=)
c.*1159G>A (n.*1159G>A)
c.1665G>A (p.Glu555=)
c.1083G>A (p.Glu361=)
c.*1547G>A (n.*1547G>A)
c.1684G>A (n.1684G>A)
c.1416G>A (p.Glu472=)
c.1542G>A (p.Glu514=)
c.1539G>A (p.Glu513=)
c.1578G>A (p.Glu526=)
c.448-13223G>A (n.448-13223G>A)
c.*93+3206G>A (n.*93+3206G>A)
n.2224G>A
c.1551G>A (p.Glu517=)
n.2147G>A
 ClinVar dbSNP
22g.29681529G>CCA411150258NF2c.1530G>C (p.Glu510Asp)
c.*1159G>C (n.*1159G>C)
c.1665G>C (p.Glu555Asp)
c.1083G>C (p.Glu361Asp)
c.*1547G>C (n.*1547G>C)
c.1684G>C (n.1684G>C)
c.1416G>C (p.Glu472Asp)
c.1542G>C (p.Glu514Asp)
c.1539G>C (p.Glu513Asp)
c.1578G>C (p.Glu526Asp)
c.448-13223G>C (n.448-13223G>C)
c.*93+3206G>C (n.*93+3206G>C)
n.2224G>C
c.1551G>C (p.Glu517Asp)
n.2147G>C
22g.29681529G>TCA411150260NF2c.1530G>T (p.Glu510Asp)
c.*1159G>T (n.*1159G>T)
c.1665G>T (p.Glu555Asp)
c.1083G>T (p.Glu361Asp)
c.*1547G>T (n.*1547G>T)
c.1684G>T (n.1684G>T)
c.1416G>T (p.Glu472Asp)
c.1542G>T (p.Glu514Asp)
c.1539G>T (p.Glu513Asp)
c.1578G>T (p.Glu526Asp)
c.448-13223G>T (n.448-13223G>T)
c.*93+3206G>T (n.*93+3206G>T)
n.2224G>T
c.1551G>T (p.Glu517Asp)
n.2147G>T
22g.29681530A>CCA411150262NF2c.1531A>C (p.Thr511Pro)
c.*1160A>C (n.*1160A>C)
c.1666A>C (p.Thr556Pro)
c.1084A>C (p.Thr362Pro)
c.*1548A>C (n.*1548A>C)
c.1685A>C (n.1685A>C)
c.1417A>C (p.Thr473Pro)
c.1543A>C (p.Thr515Pro)
c.1540A>C (p.Thr514Pro)
c.1579A>C (p.Thr527Pro)
c.448-13222A>C (n.448-13222A>C)
c.*93+3207A>C (n.*93+3207A>C)
n.2225A>C
c.1552A>C (p.Thr518Pro)
n.2148A>C
22g.29681530A>GCA411150264NF2c.1531A>G (p.Thr511Ala)
c.*1160A>G (n.*1160A>G)
c.1666A>G (p.Thr556Ala)
c.1084A>G (p.Thr362Ala)
c.*1548A>G (n.*1548A>G)
c.1685A>G (n.1685A>G)
c.1417A>G (p.Thr473Ala)
c.1543A>G (p.Thr515Ala)
c.1540A>G (p.Thr514Ala)
c.1579A>G (p.Thr527Ala)
c.448-13222A>G (n.448-13222A>G)
c.*93+3207A>G (n.*93+3207A>G)
n.2225A>G
c.1552A>G (p.Thr518Ala)
n.2148A>G
 ClinVar
22g.29681530A>TCA411150265NF2c.1531A>T (p.Thr511Ser)
c.*1160A>T (n.*1160A>T)
c.1666A>T (p.Thr556Ser)
c.1084A>T (p.Thr362Ser)
c.*1548A>T (n.*1548A>T)
c.1685A>T (n.1685A>T)
c.1417A>T (p.Thr473Ser)
c.1543A>T (p.Thr515Ser)
c.1540A>T (p.Thr514Ser)
c.1579A>T (p.Thr527Ser)
c.448-13222A>T (n.448-13222A>T)
c.*93+3207A>T (n.*93+3207A>T)
n.2225A>T
c.1552A>T (p.Thr518Ser)
n.2148A>T
22g.29681531C>ACA411150267NF2c.1532C>A (p.Thr511Lys)
c.*1161C>A (n.*1161C>A)
c.1667C>A (p.Thr556Lys)
c.1085C>A (p.Thr362Lys)
c.*1549C>A (n.*1549C>A)
c.1686C>A (n.1686C>A)
c.1418C>A (p.Thr473Lys)
c.1544C>A (p.Thr515Lys)
c.1541C>A (p.Thr514Lys)
c.1580C>A (p.Thr527Lys)
c.448-13221C>A (n.448-13221C>A)
c.*93+3208C>A (n.*93+3208C>A)
n.2226C>A
c.1553C>A (p.Thr518Lys)
n.2149C>A
22g.29681531C=CA2400686830NF2c.1532C= (p.Thr511=)
c.*1161C= (n.*1161C=)
c.1667C= (p.Thr556=)
c.1085C= (p.Thr362=)
c.*1549C= (n.*1549C=)
c.1686C= (n.1686C=)
c.1418C= (p.Thr473=)
c.1544C= (p.Thr515=)
c.1541C= (p.Thr514=)
c.1580C= (p.Thr527=)
c.448-13221C= (n.448-13221C=)
c.*93+3208C= (n.*93+3208C=)
n.2226C=
c.1553C= (p.Thr518=)
n.2149C=
22g.29681531C>GCA411150269NF2c.1532C>G (p.Thr511Arg)
c.*1161C>G (n.*1161C>G)
c.1667C>G (p.Thr556Arg)
c.1085C>G (p.Thr362Arg)
c.*1549C>G (n.*1549C>G)
c.1686C>G (n.1686C>G)
c.1418C>G (p.Thr473Arg)
c.1544C>G (p.Thr515Arg)
c.1541C>G (p.Thr514Arg)
c.1580C>G (p.Thr527Arg)
c.448-13221C>G (n.448-13221C>G)
c.*93+3208C>G (n.*93+3208C>G)
n.2226C>G
c.1553C>G (p.Thr518Arg)
n.2149C>G
22g.29681531C>TCA032497NF2c.1532C>T (p.Thr511Ile)
c.*1161C>T (n.*1161C>T)
c.1667C>T (p.Thr556Ile)
c.1085C>T (p.Thr362Ile)
c.*1549C>T (n.*1549C>T)
c.1686C>T (n.1686C>T)
c.1418C>T (p.Thr473Ile)
c.1544C>T (p.Thr515Ile)
c.1541C>T (p.Thr514Ile)
c.1580C>T (p.Thr527Ile)
c.448-13221C>T (n.448-13221C>T)
c.*93+3208C>T (n.*93+3208C>T)
n.2226C>T
c.1553C>T (p.Thr518Ile)
n.2149C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.29681532A>CCA514190607NF2c.1533A>C (p.Thr511=)
c.*1162A>C (n.*1162A>C)
c.1668A>C (p.Thr556=)
c.1086A>C (p.Thr362=)
c.*1550A>C (n.*1550A>C)
c.1687A>C (n.1687A>C)
c.1419A>C (p.Thr473=)
c.1545A>C (p.Thr515=)
c.1542A>C (p.Thr514=)
c.1581A>C (p.Thr527=)
c.448-13220A>C (n.448-13220A>C)
c.*93+3209A>C (n.*93+3209A>C)
n.2227A>C
c.1554A>C (p.Thr518=)
n.2150A>C
22g.29681532A>GCA514190605NF2c.1533A>G (p.Thr511=)
c.*1162A>G (n.*1162A>G)
c.1668A>G (p.Thr556=)
c.1086A>G (p.Thr362=)
c.*1550A>G (n.*1550A>G)
c.1687A>G (n.1687A>G)
c.1419A>G (p.Thr473=)
c.1545A>G (p.Thr515=)
c.1542A>G (p.Thr514=)
c.1581A>G (p.Thr527=)
c.448-13220A>G (n.448-13220A>G)
c.*93+3209A>G (n.*93+3209A>G)
n.2227A>G
c.1554A>G (p.Thr518=)
n.2150A>G
22g.29681532A>TCA514190603NF2c.1533A>T (p.Thr511=)
c.*1162A>T (n.*1162A>T)
c.1668A>T (p.Thr556=)
c.1086A>T (p.Thr362=)
c.*1550A>T (n.*1550A>T)
c.1687A>T (n.1687A>T)
c.1419A>T (p.Thr473=)
c.1545A>T (p.Thr515=)
c.1542A>T (p.Thr514=)
c.1581A>T (p.Thr527=)
c.448-13220A>T (n.448-13220A>T)
c.*93+3209A>T (n.*93+3209A>T)
n.2227A>T
c.1554A>T (p.Thr518=)
n.2150A>T
22g.29681533G>ACA032511NF2c.1534G>A (p.Ala512Thr)
c.*1163G>A (n.*1163G>A)
c.1669G>A (p.Ala557Thr)
c.1087G>A (p.Ala363Thr)
c.*1551G>A (n.*1551G>A)
c.1688G>A (n.1688G>A)
c.1420G>A (p.Ala474Thr)
c.1546G>A (p.Ala516Thr)
c.1543G>A (p.Ala515Thr)
c.1582G>A (p.Ala528Thr)
c.448-13219G>A (n.448-13219G>A)
c.*93+3210G>A (n.*93+3210G>A)
n.2228G>A
c.1555G>A (p.Ala519Thr)
n.2151G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.29681533G>CCA411150272NF2c.1534G>C (p.Ala512Pro)
c.*1163G>C (n.*1163G>C)
c.1669G>C (p.Ala557Pro)
c.1087G>C (p.Ala363Pro)
c.*1551G>C (n.*1551G>C)
c.1688G>C (n.1688G>C)
c.1420G>C (p.Ala474Pro)
c.1546G>C (p.Ala516Pro)
c.1543G>C (p.Ala515Pro)
c.1582G>C (p.Ala528Pro)
c.448-13219G>C (n.448-13219G>C)
c.*93+3210G>C (n.*93+3210G>C)
n.2228G>C
c.1555G>C (p.Ala519Pro)
n.2151G>C
22g.29681533G=CA2400686831NF2c.1534G= (p.Ala512=)
c.*1163G= (n.*1163G=)
c.1669G= (p.Ala557=)
c.1087G= (p.Ala363=)
c.*1551G= (n.*1551G=)
c.1688G= (n.1688G=)
c.1420G= (p.Ala474=)
c.1546G= (p.Ala516=)
c.1543G= (p.Ala515=)
c.1582G= (p.Ala528=)
c.448-13219G= (n.448-13219G=)
c.*93+3210G= (n.*93+3210G=)
n.2228G=
c.1555G= (p.Ala519=)
n.2151G=
22g.29681533G>TCA411150274NF2c.1534G>T (p.Ala512Ser)
c.*1163G>T (n.*1163G>T)
c.1669G>T (p.Ala557Ser)
c.1087G>T (p.Ala363Ser)
c.*1551G>T (n.*1551G>T)
c.1688G>T (n.1688G>T)
c.1420G>T (p.Ala474Ser)
c.1546G>T (p.Ala516Ser)
c.1543G>T (p.Ala515Ser)
c.1582G>T (p.Ala528Ser)
c.448-13219G>T (n.448-13219G>T)
c.*93+3210G>T (n.*93+3210G>T)
n.2228G>T
c.1555G>T (p.Ala519Ser)
n.2151G>T
22g.29681534C>ACA411150276NF2c.1535C>A (p.Ala512Asp)
c.*1164C>A (n.*1164C>A)
c.1670C>A (p.Ala557Asp)
c.1088C>A (p.Ala363Asp)
c.*1552C>A (n.*1552C>A)
c.1689C>A (n.1689C>A)
c.1421C>A (p.Ala474Asp)
c.1547C>A (p.Ala516Asp)
c.1544C>A (p.Ala515Asp)
c.1583C>A (p.Ala528Asp)
c.448-13218C>A (n.448-13218C>A)
c.*93+3211C>A (n.*93+3211C>A)
n.2229C>A
c.1556C>A (p.Ala519Asp)
n.2152C>A
 ClinVar gnomAD v4
22g.29681534C>GCA411150278NF2c.1535C>G (p.Ala512Gly)
c.*1164C>G (n.*1164C>G)
c.1670C>G (p.Ala557Gly)
c.1088C>G (p.Ala363Gly)
c.*1552C>G (n.*1552C>G)
c.1689C>G (n.1689C>G)
c.1421C>G (p.Ala474Gly)
c.1547C>G (p.Ala516Gly)
c.1544C>G (p.Ala515Gly)
c.1583C>G (p.Ala528Gly)
c.448-13218C>G (n.448-13218C>G)
c.*93+3211C>G (n.*93+3211C>G)
n.2229C>G
c.1556C>G (p.Ala519Gly)
n.2152C>G
 ClinVar dbSNP
22g.29681534C>TCA411150280NF2c.1535C>T (p.Ala512Val)
c.*1164C>T (n.*1164C>T)
c.1670C>T (p.Ala557Val)
c.1088C>T (p.Ala363Val)
c.*1552C>T (n.*1552C>T)
c.1689C>T (n.1689C>T)
c.1421C>T (p.Ala474Val)
c.1547C>T (p.Ala516Val)
c.1544C>T (p.Ala515Val)
c.1583C>T (p.Ala528Val)
c.448-13218C>T (n.448-13218C>T)
c.*93+3211C>T (n.*93+3211C>T)
n.2229C>T
c.1556C>T (p.Ala519Val)
n.2152C>T
 gnomAD v4
22g.29681535T>ACA514190618NF2c.1536T>A (p.Ala512=)
c.*1165T>A (n.*1165T>A)
c.1671T>A (p.Ala557=)
c.1089T>A (p.Ala363=)
c.*1553T>A (n.*1553T>A)
c.1690T>A (n.1690T>A)
c.1422T>A (p.Ala474=)
c.1548T>A (p.Ala516=)
c.1545T>A (p.Ala515=)
c.1584T>A (p.Ala528=)
c.448-13217T>A (n.448-13217T>A)
c.*93+3212T>A (n.*93+3212T>A)
n.2230T>A
c.1557T>A (p.Ala519=)
n.2153T>A
22g.29681535T>CCA032526NF2c.1536T>C (p.Ala512=)
c.*1165T>C (n.*1165T>C)
c.1671T>C (p.Ala557=)
c.1089T>C (p.Ala363=)
c.*1553T>C (n.*1553T>C)
c.1690T>C (n.1690T>C)
c.1422T>C (p.Ala474=)
c.1548T>C (p.Ala516=)
c.1545T>C (p.Ala515=)
c.1584T>C (p.Ala528=)
c.448-13217T>C (n.448-13217T>C)
c.*93+3212T>C (n.*93+3212T>C)
n.2230T>C
c.1557T>C (p.Ala519=)
n.2153T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.29681535T>GCA514190619NF2c.1536T>G (p.Ala512=)
c.*1165T>G (n.*1165T>G)
c.1671T>G (p.Ala557=)
c.1089T>G (p.Ala363=)
c.*1553T>G (n.*1553T>G)
c.1690T>G (n.1690T>G)
c.1422T>G (p.Ala474=)
c.1548T>G (p.Ala516=)
c.1545T>G (p.Ala515=)
c.1584T>G (p.Ala528=)
c.448-13217T>G (n.448-13217T>G)
c.*93+3212T>G (n.*93+3212T>G)
n.2230T>G
c.1557T>G (p.Ala519=)
n.2153T>G
22g.29681535T=CA2400686832NF2c.1536T= (p.Ala512=)
c.*1165T= (n.*1165T=)
c.1671T= (p.Ala557=)
c.1089T= (p.Ala363=)
c.*1553T= (n.*1553T=)
c.1690T= (n.1690T=)
c.1422T= (p.Ala474=)
c.1548T= (p.Ala516=)
c.1545T= (p.Ala515=)
c.1584T= (p.Ala528=)
c.448-13217T= (n.448-13217T=)
c.*93+3212T= (n.*93+3212T=)
n.2230T=
c.1557T= (p.Ala519=)
n.2153T=
22g.29681536C>ACA411150285NF2c.1537C>A (p.Leu513Met)
c.*1166C>A (n.*1166C>A)
c.1672C>A (p.Leu558Met)
c.1090C>A (p.Leu364Met)
c.*1554C>A (n.*1554C>A)
c.1691C>A (n.1691C>A)
c.1423C>A (p.Leu475Met)
c.1549C>A (p.Leu517Met)
c.1546C>A (p.Leu516Met)
c.1585C>A (p.Leu529Met)
c.448-13216C>A (n.448-13216C>A)
c.*93+3213C>A (n.*93+3213C>A)
n.2231C>A
c.1558C>A (p.Leu520Met)
n.2154C>A
22g.29681536C=CA2400686833NF2c.1537C= (p.Leu513=)
c.*1166C= (n.*1166C=)
c.1672C= (p.Leu558=)
c.1090C= (p.Leu364=)
c.*1554C= (n.*1554C=)
c.1691C= (n.1691C=)
c.1423C= (p.Leu475=)
c.1549C= (p.Leu517=)
c.1546C= (p.Leu516=)
c.1585C= (p.Leu529=)
c.448-13216C= (n.448-13216C=)
c.*93+3213C= (n.*93+3213C=)
n.2231C=
c.1558C= (p.Leu520=)
n.2154C=
22g.29681536C>GCA032541NF2c.1537C>G (p.Leu513Val)
c.*1166C>G (n.*1166C>G)
c.1672C>G (p.Leu558Val)
c.1090C>G (p.Leu364Val)
c.*1554C>G (n.*1554C>G)
c.1691C>G (n.1691C>G)
c.1423C>G (p.Leu475Val)
c.1549C>G (p.Leu517Val)
c.1546C>G (p.Leu516Val)
c.1585C>G (p.Leu529Val)
c.448-13216C>G (n.448-13216C>G)
c.*93+3213C>G (n.*93+3213C>G)
n.2231C>G
c.1558C>G (p.Leu520Val)
n.2154C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22g.29681536C>TCA514190620NF2c.1537C>T (p.Leu513=)
c.*1166C>T (n.*1166C>T)
c.1672C>T (p.Leu558=)
c.1090C>T (p.Leu364=)
c.*1554C>T (n.*1554C>T)
c.1691C>T (n.1691C>T)
c.1423C>T (p.Leu475=)
c.1549C>T (p.Leu517=)
c.1546C>T (p.Leu516=)
c.1585C>T (p.Leu529=)
c.448-13216C>T (n.448-13216C>T)
c.*93+3213C>T (n.*93+3213C>T)
n.2231C>T
c.1558C>T (p.Leu520=)
n.2154C>T
22g.29681537T>ACA411150289NF2c.1538T>A (p.Leu513Gln)
c.*1167T>A (n.*1167T>A)
c.1673T>A (p.Leu558Gln)
c.1091T>A (p.Leu364Gln)
c.*1555T>A (n.*1555T>A)
c.1692T>A (n.1692T>A)
c.1424T>A (p.Leu475Gln)
c.1550T>A (p.Leu517Gln)
c.1547T>A (p.Leu516Gln)
c.1586T>A (p.Leu529Gln)
c.448-13215T>A (n.448-13215T>A)
c.*93+3214T>A (n.*93+3214T>A)
n.2232T>A
c.1559T>A (p.Leu520Gln)
n.2155T>A
22g.29681537T>CCA411150292NF2c.1538T>C (p.Leu513Pro)
c.*1167T>C (n.*1167T>C)
c.1673T>C (p.Leu558Pro)
c.1091T>C (p.Leu364Pro)
c.*1555T>C (n.*1555T>C)
c.1692T>C (n.1692T>C)
c.1424T>C (p.Leu475Pro)
c.1550T>C (p.Leu517Pro)
c.1547T>C (p.Leu516Pro)
c.1586T>C (p.Leu529Pro)
c.448-13215T>C (n.448-13215T>C)
c.*93+3214T>C (n.*93+3214T>C)
n.2232T>C
c.1559T>C (p.Leu520Pro)
n.2155T>C
22g.29681537T>GCA411150294NF2c.1538T>G (p.Leu513Arg)
c.*1167T>G (n.*1167T>G)
c.1673T>G (p.Leu558Arg)
c.1091T>G (p.Leu364Arg)
c.*1555T>G (n.*1555T>G)
c.1692T>G (n.1692T>G)
c.1424T>G (p.Leu475Arg)
c.1550T>G (p.Leu517Arg)
c.1547T>G (p.Leu516Arg)
c.1586T>G (p.Leu529Arg)
c.448-13215T>G (n.448-13215T>G)
c.*93+3214T>G (n.*93+3214T>G)
n.2232T>G
c.1559T>G (p.Leu520Arg)
n.2155T>G
22g.29681537dupCA2818685035NF2c.1538dup (p.Asp514GlyfsTer6)
c.*1167dup (n.*1167dup)
c.1673dup (p.Asp559GlyfsTer6)
c.1091dup (p.Asp365GlyfsTer6)
c.*1555dup (n.*1555dup)
c.1692dup (n.1692dup)
c.1424dup (p.Asp476GlyfsTer6)
c.1550dup (p.Asp518GlyfsTer6)
c.1547dup (p.Asp517GlyfsTer6)
c.1586dup (p.Asp530GlyfsTer6)
c.448-13215dup (n.448-13215dup)
c.*93+3214dup (n.*93+3214dup)
n.2232dup
c.1559dup (p.Asp521GlyfsTer6)
n.2155dup
22g.29681538G>ACA514190622NF2c.1539G>A (p.Leu513=)
c.*1168G>A (n.*1168G>A)
c.1674G>A (p.Leu558=)
c.1092G>A (p.Leu364=)
c.*1556G>A (n.*1556G>A)
c.1693G>A (n.1693G>A)
c.1425G>A (p.Leu475=)
c.1551G>A (p.Leu517=)
c.1548G>A (p.Leu516=)
c.1587G>A (p.Leu529=)
c.448-13214G>A (n.448-13214G>A)
c.*93+3215G>A (n.*93+3215G>A)
n.2233G>A
c.1560G>A (p.Leu520=)
n.2156G>A
22g.29681538G>CCA514190624NF2c.1539G>C (p.Leu513=)
c.*1168G>C (n.*1168G>C)
c.1674G>C (p.Leu558=)
c.1092G>C (p.Leu364=)
c.*1556G>C (n.*1556G>C)
c.1693G>C (n.1693G>C)
c.1425G>C (p.Leu475=)
c.1551G>C (p.Leu517=)
c.1548G>C (p.Leu516=)
c.1587G>C (p.Leu529=)
c.448-13214G>C (n.448-13214G>C)
c.*93+3215G>C (n.*93+3215G>C)
n.2233G>C
c.1560G>C (p.Leu520=)
n.2156G>C
22g.29681538G>TCA514190623NF2c.1539G>T (p.Leu513=)
c.*1168G>T (n.*1168G>T)
c.1674G>T (p.Leu558=)
c.1092G>T (p.Leu364=)
c.*1556G>T (n.*1556G>T)
c.1693G>T (n.1693G>T)
c.1425G>T (p.Leu475=)
c.1551G>T (p.Leu517=)
c.1548G>T (p.Leu516=)
c.1587G>T (p.Leu529=)
c.448-13214G>T (n.448-13214G>T)
c.*93+3215G>T (n.*93+3215G>T)
n.2233G>T
c.1560G>T (p.Leu520=)
n.2156G>T
22g.29681539G>ACA411150298NF2c.1540G>A (p.Asp514Asn)
c.*1169G>A (n.*1169G>A)
c.1675G>A (p.Asp559Asn)
c.1093G>A (p.Asp365Asn)
c.*1557G>A (n.*1557G>A)
c.1694G>A (n.1694G>A)
c.1426G>A (p.Asp476Asn)
c.1552G>A (p.Asp518Asn)
c.1549G>A (p.Asp517Asn)
c.1588G>A (p.Asp530Asn)
c.448-13213G>A (n.448-13213G>A)
c.*93+3216G>A (n.*93+3216G>A)
n.2234G>A
c.1561G>A (p.Asp521Asn)
n.2157G>A
22g.29681539G>CCA411150300NF2c.1540G>C (p.Asp514His)
c.*1169G>C (n.*1169G>C)
c.1675G>C (p.Asp559His)
c.1093G>C (p.Asp365His)
c.*1557G>C (n.*1557G>C)
c.1694G>C (n.1694G>C)
c.1426G>C (p.Asp476His)
c.1552G>C (p.Asp518His)
c.1549G>C (p.Asp517His)
c.1588G>C (p.Asp530His)
c.448-13213G>C (n.448-13213G>C)
c.*93+3216G>C (n.*93+3216G>C)
n.2234G>C
c.1561G>C (p.Asp521His)
n.2157G>C
 dbSNP
22g.29681539G=CA2400686834NF2c.1540G= (p.Asp514=)
c.*1169G= (n.*1169G=)
c.1675G= (p.Asp559=)
c.1093G= (p.Asp365=)
c.*1557G= (n.*1557G=)
c.1694G= (n.1694G=)
c.1426G= (p.Asp476=)
c.1552G= (p.Asp518=)
c.1549G= (p.Asp517=)
c.1588G= (p.Asp530=)
c.448-13213G= (n.448-13213G=)
c.*93+3216G= (n.*93+3216G=)
n.2234G=
c.1561G= (p.Asp521=)
n.2157G=
22g.29681539G>TCA323120976NF2c.1540G>T (p.Asp514Tyr)
c.*1169G>T (n.*1169G>T)
c.1675G>T (p.Asp559Tyr)
c.1093G>T (p.Asp365Tyr)
c.*1557G>T (n.*1557G>T)
c.1694G>T (n.1694G>T)
c.1426G>T (p.Asp476Tyr)
c.1552G>T (p.Asp518Tyr)
c.1549G>T (p.Asp517Tyr)
c.1588G>T (p.Asp530Tyr)
c.448-13213G>T (n.448-13213G>T)
c.*93+3216G>T (n.*93+3216G>T)
n.2234G>T
c.1561G>T (p.Asp521Tyr)
n.2157G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.29681540delCA2580099560NF2c.1541del (p.Asp514ValfsTer?)
c.*1170del (n.*1170del)
c.1676del (p.Asp559ValfsTer?)
c.1094del (p.Asp365ValfsTer?)
c.*1558del (n.*1558del)
c.1695del (n.1695del)
c.1427del (p.Asp476ValfsTer?)
c.1553del (p.Asp518ValfsTer?)
c.1550del (p.Asp517ValfsTer?)
c.1589del (p.Asp530ValfsTer?)
c.448-13212del (n.448-13212del)
c.*93+3217del (n.*93+3217del)
n.2235del
c.1562del (p.Asp521ValfsTer?)
n.2158del
 ClinVar
22g.29681540A>CCA411150302NF2c.1541A>C (p.Asp514Ala)
c.*1170A>C (n.*1170A>C)
c.1676A>C (p.Asp559Ala)
c.1094A>C (p.Asp365Ala)
c.*1558A>C (n.*1558A>C)
c.1695A>C (n.1695A>C)
c.1427A>C (p.Asp476Ala)
c.1553A>C (p.Asp518Ala)
c.1550A>C (p.Asp517Ala)
c.1589A>C (p.Asp530Ala)
c.448-13212A>C (n.448-13212A>C)
c.*93+3217A>C (n.*93+3217A>C)
n.2235A>C
c.1562A>C (p.Asp521Ala)
n.2158A>C
22g.29681540A>GCA411150304NF2c.1541A>G (p.Asp514Gly)
c.*1170A>G (n.*1170A>G)
c.1676A>G (p.Asp559Gly)
c.1094A>G (p.Asp365Gly)
c.*1558A>G (n.*1558A>G)
c.1695A>G (n.1695A>G)
c.1427A>G (p.Asp476Gly)
c.1553A>G (p.Asp518Gly)
c.1550A>G (p.Asp517Gly)
c.1589A>G (p.Asp530Gly)
c.448-13212A>G (n.448-13212A>G)
c.*93+3217A>G (n.*93+3217A>G)
n.2235A>G
c.1562A>G (p.Asp521Gly)
n.2158A>G
 ClinVar
22g.29681540A>TCA411150306NF2c.1541A>T (p.Asp514Val)
c.*1170A>T (n.*1170A>T)
c.1676A>T (p.Asp559Val)
c.1094A>T (p.Asp365Val)
c.*1558A>T (n.*1558A>T)
c.1695A>T (n.1695A>T)
c.1427A>T (p.Asp476Val)
c.1553A>T (p.Asp518Val)
c.1550A>T (p.Asp517Val)
c.1589A>T (p.Asp530Val)
c.448-13212A>T (n.448-13212A>T)
c.*93+3217A>T (n.*93+3217A>T)
n.2235A>T
c.1562A>T (p.Asp521Val)
n.2158A>T
 ClinVar
22g.29681541T>ACA411150307NF2c.1542T>A (p.Asp514Glu)
c.*1171T>A (n.*1171T>A)
c.1677T>A (p.Asp559Glu)
c.1095T>A (p.Asp365Glu)
c.*1559T>A (n.*1559T>A)
c.1696T>A (n.1696T>A)
c.1428T>A (p.Asp476Glu)
c.1554T>A (p.Asp518Glu)
c.1551T>A (p.Asp517Glu)
c.1590T>A (p.Asp530Glu)
c.448-13211T>A (n.448-13211T>A)
c.*93+3218T>A (n.*93+3218T>A)
n.2236T>A
c.1563T>A (p.Asp521Glu)
n.2159T>A
22g.29681541T>CCA514190625NF2c.1542T>C (p.Asp514=)
c.*1171T>C (n.*1171T>C)
c.1677T>C (p.Asp559=)
c.1095T>C (p.Asp365=)
c.*1559T>C (n.*1559T>C)
c.1696T>C (n.1696T>C)
c.1428T>C (p.Asp476=)
c.1554T>C (p.Asp518=)
c.1551T>C (p.Asp517=)
c.1590T>C (p.Asp530=)
c.448-13211T>C (n.448-13211T>C)
c.*93+3218T>C (n.*93+3218T>C)
n.2236T>C
c.1563T>C (p.Asp521=)
n.2159T>C
 gnomAD v4
22g.29681541T>GCA411150309NF2c.1542T>G (p.Asp514Glu)
c.*1171T>G (n.*1171T>G)
c.1677T>G (p.Asp559Glu)
c.1095T>G (p.Asp365Glu)
c.*1559T>G (n.*1559T>G)
c.1696T>G (n.1696T>G)
c.1428T>G (p.Asp476Glu)
c.1554T>G (p.Asp518Glu)
c.1551T>G (p.Asp517Glu)
c.1590T>G (p.Asp530Glu)
c.448-13211T>G (n.448-13211T>G)
c.*93+3218T>G (n.*93+3218T>G)
n.2236T>G
c.1563T>G (p.Asp521Glu)
n.2159T>G
22g.29681542A=CA2400686835NF2c.1543A= (p.Ile515=)
c.*1172A= (n.*1172A=)
c.1678A= (p.Ile560=)
c.1096A= (p.Ile366=)
c.*1560A= (n.*1560A=)
c.1697A= (n.1697A=)
c.1429A= (p.Ile477=)
c.1555A= (p.Ile519=)
c.1552A= (p.Ile518=)
c.1591A= (p.Ile531=)
c.448-13210A= (n.448-13210A=)
c.*93+3219A= (n.*93+3219A=)
n.2237A=
c.1564A= (p.Ile522=)
n.2160A=
22g.29681542A>CCA411150313NF2c.1543A>C (p.Ile515Leu)
c.*1172A>C (n.*1172A>C)
c.1678A>C (p.Ile560Leu)
c.1096A>C (p.Ile366Leu)
c.*1560A>C (n.*1560A>C)
c.1697A>C (n.1697A>C)
c.1429A>C (p.Ile477Leu)
c.1555A>C (p.Ile519Leu)
c.1552A>C (p.Ile518Leu)
c.1591A>C (p.Ile531Leu)
c.448-13210A>C (n.448-13210A>C)
c.*93+3219A>C (n.*93+3219A>C)
n.2237A>C
c.1564A>C (p.Ile522Leu)
n.2160A>C
22g.29681542A>GCA323120994NF2c.1543A>G (p.Ile515Val)
c.*1172A>G (n.*1172A>G)
c.1678A>G (p.Ile560Val)
c.1096A>G (p.Ile366Val)
c.*1560A>G (n.*1560A>G)
c.1697A>G (n.1697A>G)
c.1429A>G (p.Ile477Val)
c.1555A>G (p.Ile519Val)
c.1552A>G (p.Ile518Val)
c.1591A>G (p.Ile531Val)
c.448-13210A>G (n.448-13210A>G)
c.*93+3219A>G (n.*93+3219A>G)
n.2237A>G
c.1564A>G (p.Ile522Val)
n.2160A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.29681542A>TCA032567NF2c.1543A>T (p.Ile515Phe)
c.*1172A>T (n.*1172A>T)
c.1678A>T (p.Ile560Phe)
c.1096A>T (p.Ile366Phe)
c.*1560A>T (n.*1560A>T)
c.1697A>T (n.1697A>T)
c.1429A>T (p.Ile477Phe)
c.1555A>T (p.Ile519Phe)
c.1552A>T (p.Ile518Phe)
c.1591A>T (p.Ile531Phe)
c.448-13210A>T (n.448-13210A>T)
c.*93+3219A>T (n.*93+3219A>T)
n.2237A>T
c.1564A>T (p.Ile522Phe)
n.2160A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.29681543T>ACA411150315NF2c.1544T>A (p.Ile515Asn)
c.*1173T>A (n.*1173T>A)
c.1679T>A (p.Ile560Asn)
c.1097T>A (p.Ile366Asn)
c.*1561T>A (n.*1561T>A)
c.1698T>A (n.1698T>A)
c.1430T>A (p.Ile477Asn)
c.1556T>A (p.Ile519Asn)
c.1553T>A (p.Ile518Asn)
c.1592T>A (p.Ile531Asn)
c.448-13209T>A (n.448-13209T>A)
c.*93+3220T>A (n.*93+3220T>A)
n.2238T>A
c.1565T>A (p.Ile522Asn)
n.2161T>A
22g.29681543T>CCA411150317NF2c.1544T>C (p.Ile515Thr)
c.*1173T>C (n.*1173T>C)
c.1679T>C (p.Ile560Thr)
c.1097T>C (p.Ile366Thr)
c.*1561T>C (n.*1561T>C)
c.1698T>C (n.1698T>C)
c.1430T>C (p.Ile477Thr)
c.1556T>C (p.Ile519Thr)
c.1553T>C (p.Ile518Thr)
c.1592T>C (p.Ile531Thr)
c.448-13209T>C (n.448-13209T>C)
c.*93+3220T>C (n.*93+3220T>C)
n.2238T>C
c.1565T>C (p.Ile522Thr)
n.2161T>C
22g.29681543T>GCA411150319NF2c.1544T>G (p.Ile515Ser)
c.*1173T>G (n.*1173T>G)
c.1679T>G (p.Ile560Ser)
c.1097T>G (p.Ile366Ser)
c.*1561T>G (n.*1561T>G)
c.1698T>G (n.1698T>G)
c.1430T>G (p.Ile477Ser)
c.1556T>G (p.Ile519Ser)
c.1553T>G (p.Ile518Ser)
c.1592T>G (p.Ile531Ser)
c.448-13209T>G (n.448-13209T>G)
c.*93+3220T>G (n.*93+3220T>G)
n.2238T>G
c.1565T>G (p.Ile522Ser)
n.2161T>G
22g.29681544T>ACA514190627NF2c.1545T>A (p.Ile515=)
c.*1174T>A (n.*1174T>A)
c.1680T>A (p.Ile560=)
c.1098T>A (p.Ile366=)
c.*1562T>A (n.*1562T>A)
c.1699T>A (n.1699T>A)
c.1431T>A (p.Ile477=)
c.1557T>A (p.Ile519=)
c.1554T>A (p.Ile518=)
c.1593T>A (p.Ile531=)
c.448-13208T>A (n.448-13208T>A)
c.*93+3221T>A (n.*93+3221T>A)
n.2239T>A
c.1566T>A (p.Ile522=)
n.2162T>A
22g.29681544T>CCA514190626NF2c.1545T>C (p.Ile515=)
c.*1174T>C (n.*1174T>C)
c.1680T>C (p.Ile560=)
c.1098T>C (p.Ile366=)
c.*1562T>C (n.*1562T>C)
c.1699T>C (n.1699T>C)
c.1431T>C (p.Ile477=)
c.1557T>C (p.Ile519=)
c.1554T>C (p.Ile518=)
c.1593T>C (p.Ile531=)
c.448-13208T>C (n.448-13208T>C)
c.*93+3221T>C (n.*93+3221T>C)
n.2239T>C
c.1566T>C (p.Ile522=)
n.2162T>C
22g.29681544T>GCA411150321NF2c.1545T>G (p.Ile515Met)
c.*1174T>G (n.*1174T>G)
c.1680T>G (p.Ile560Met)
c.1098T>G (p.Ile366Met)
c.*1562T>G (n.*1562T>G)
c.1699T>G (n.1699T>G)
c.1431T>G (p.Ile477Met)
c.1557T>G (p.Ile519Met)
c.1554T>G (p.Ile518Met)
c.1593T>G (p.Ile531Met)
c.448-13208T>G (n.448-13208T>G)
c.*93+3221T>G (n.*93+3221T>G)
n.2239T>G
c.1566T>G (p.Ile522Met)
n.2162T>G
22g.29681545C>ACA411150323NF2c.1546C>A (p.Leu516Met)
c.*1175C>A (n.*1175C>A)
c.1681C>A (p.Leu561Met)
c.1099C>A (p.Leu367Met)
c.*1563C>A (n.*1563C>A)
c.1700C>A (n.1700C>A)
c.1432C>A (p.Leu478Met)
c.1558C>A (p.Leu520Met)
c.1555C>A (p.Leu519Met)
c.1594C>A (p.Leu532Met)
c.448-13207C>A (n.448-13207C>A)
c.*93+3222C>A (n.*93+3222C>A)
n.2240C>A
c.1567C>A (p.Leu523Met)
n.2163C>A
22g.29681545C>GCA411150325NF2c.1546C>G (p.Leu516Val)
c.*1175C>G (n.*1175C>G)
c.1681C>G (p.Leu561Val)
c.1099C>G (p.Leu367Val)
c.*1563C>G (n.*1563C>G)
c.1700C>G (n.1700C>G)
c.1432C>G (p.Leu478Val)
c.1558C>G (p.Leu520Val)
c.1555C>G (p.Leu519Val)
c.1594C>G (p.Leu532Val)
c.448-13207C>G (n.448-13207C>G)
c.*93+3222C>G (n.*93+3222C>G)
n.2240C>G
c.1567C>G (p.Leu523Val)
n.2163C>G
22g.29681545C>TCA514190628NF2c.1546C>T (p.Leu516=)
c.*1175C>T (n.*1175C>T)
c.1681C>T (p.Leu561=)
c.1099C>T (p.Leu367=)
c.*1563C>T (n.*1563C>T)
c.1700C>T (n.1700C>T)
c.1432C>T (p.Leu478=)
c.1558C>T (p.Leu520=)
c.1555C>T (p.Leu519=)
c.1594C>T (p.Leu532=)
c.448-13207C>T (n.448-13207C>T)
c.*93+3222C>T (n.*93+3222C>T)
n.2240C>T
c.1567C>T (p.Leu523=)
n.2163C>T
22g.29681546T>ACA411150331NF2c.1547T>A (p.Leu516Gln)
c.*1176T>A (n.*1176T>A)
c.1682T>A (p.Leu561Gln)
c.1100T>A (p.Leu367Gln)
c.*1564T>A (n.*1564T>A)
c.1701T>A (n.1701T>A)
c.1433T>A (p.Leu478Gln)
c.1559T>A (p.Leu520Gln)
c.1556T>A (p.Leu519Gln)
c.1595T>A (p.Leu532Gln)
c.448-13206T>A (n.448-13206T>A)
c.*93+3223T>A (n.*93+3223T>A)
n.2241T>A
c.1568T>A (p.Leu523Gln)
n.2164T>A
22g.29681546T>CCA411150329NF2c.1547T>C (p.Leu516Pro)
c.*1176T>C (n.*1176T>C)
c.1682T>C (p.Leu561Pro)
c.1100T>C (p.Leu367Pro)
c.*1564T>C (n.*1564T>C)
c.1701T>C (n.1701T>C)
c.1433T>C (p.Leu478Pro)
c.1559T>C (p.Leu520Pro)
c.1556T>C (p.Leu519Pro)
c.1595T>C (p.Leu532Pro)
c.448-13206T>C (n.448-13206T>C)
c.*93+3223T>C (n.*93+3223T>C)
n.2241T>C
c.1568T>C (p.Leu523Pro)
n.2164T>C
22g.29681546T>GCA411150327NF2c.1547T>G (p.Leu516Arg)
c.*1176T>G (n.*1176T>G)
c.1682T>G (p.Leu561Arg)
c.1100T>G (p.Leu367Arg)
c.*1564T>G (n.*1564T>G)
c.1701T>G (n.1701T>G)
c.1433T>G (p.Leu478Arg)
c.1559T>G (p.Leu520Arg)
c.1556T>G (p.Leu519Arg)
c.1595T>G (p.Leu532Arg)
c.448-13206T>G (n.448-13206T>G)
c.*93+3223T>G (n.*93+3223T>G)
n.2241T>G
c.1568T>G (p.Leu523Arg)
n.2164T>G
22g.29681547G>ACA032580NF2c.1548G>A (p.Leu516=)
c.*1177G>A (n.*1177G>A)
c.1683G>A (p.Leu561=)
c.1101G>A (p.Leu367=)
c.*1565G>A (n.*1565G>A)
c.1702G>A (n.1702G>A)
c.1434G>A (p.Leu478=)
c.1560G>A (p.Leu520=)
c.1557G>A (p.Leu519=)
c.1596G>A (p.Leu532=)
c.448-13205G>A (n.448-13205G>A)
c.*93+3224G>A (n.*93+3224G>A)
n.2242G>A
c.1569G>A (p.Leu523=)
n.2165G>A
 ClinVar dbSNP ExAC gnomAD v2
22g.29681547G>CCA514190629NF2c.1548G>C (p.Leu516=)
c.*1177G>C (n.*1177G>C)
c.1683G>C (p.Leu561=)
c.1101G>C (p.Leu367=)
c.*1565G>C (n.*1565G>C)
c.1702G>C (n.1702G>C)
c.1434G>C (p.Leu478=)
c.1560G>C (p.Leu520=)
c.1557G>C (p.Leu519=)
c.1596G>C (p.Leu532=)
c.448-13205G>C (n.448-13205G>C)
c.*93+3224G>C (n.*93+3224G>C)
n.2242G>C
c.1569G>C (p.Leu523=)
n.2165G>C
22g.29681547G=CA2400686836NF2c.1548G= (p.Leu516=)
c.*1177G= (n.*1177G=)
c.1683G= (p.Leu561=)
c.1101G= (p.Leu367=)
c.*1565G= (n.*1565G=)
c.1702G= (n.1702G=)
c.1434G= (p.Leu478=)
c.1560G= (p.Leu520=)
c.1557G= (p.Leu519=)
c.1596G= (p.Leu532=)
c.448-13205G= (n.448-13205G=)
c.*93+3224G= (n.*93+3224G=)
n.2242G=
c.1569G= (p.Leu523=)
n.2165G=
22g.29681547G>TCA514190630NF2c.1548G>T (p.Leu516=)
c.*1177G>T (n.*1177G>T)
c.1683G>T (p.Leu561=)
c.1101G>T (p.Leu367=)
c.*1565G>T (n.*1565G>T)
c.1702G>T (n.1702G>T)
c.1434G>T (p.Leu478=)
c.1560G>T (p.Leu520=)
c.1557G>T (p.Leu519=)
c.1596G>T (p.Leu532=)
c.448-13205G>T (n.448-13205G>T)
c.*93+3224G>T (n.*93+3224G>T)
n.2242G>T
c.1569G>T (p.Leu523=)
n.2165G>T
 ClinVar dbSNP
22g.29681548C>ACA411150336NF2c.1549C>A (p.His517Asn)
c.*1178C>A (n.*1178C>A)
c.1684C>A (p.His562Asn)
c.1102C>A (p.His368Asn)
c.*1566C>A (n.*1566C>A)
c.1703C>A (n.1703C>A)
c.1435C>A (p.His479Asn)
c.1561C>A (p.His521Asn)
c.1558C>A (p.His520Asn)
c.1597C>A (p.His533Asn)
c.448-13204C>A (n.448-13204C>A)
c.*93+3225C>A (n.*93+3225C>A)
n.2243C>A
c.1570C>A (p.His524Asn)
n.2166C>A
 ClinVar
22g.29681548C=CA2400686837NF2c.1549C= (p.His517=)
c.*1178C= (n.*1178C=)
c.1684C= (p.His562=)
c.1102C= (p.His368=)
c.*1566C= (n.*1566C=)
c.1703C= (n.1703C=)
c.1435C= (p.His479=)
c.1561C= (p.His521=)
c.1558C= (p.His520=)
c.1597C= (p.His533=)
c.448-13204C= (n.448-13204C=)
c.*93+3225C= (n.*93+3225C=)
n.2243C=
c.1570C= (p.His524=)
n.2166C=
22g.29681548C>GCA411150334NF2c.1549C>G (p.His517Asp)
c.*1178C>G (n.*1178C>G)
c.1684C>G (p.His562Asp)
c.1102C>G (p.His368Asp)
c.*1566C>G (n.*1566C>G)
c.1703C>G (n.1703C>G)
c.1435C>G (p.His479Asp)
c.1561C>G (p.His521Asp)
c.1558C>G (p.His520Asp)
c.1597C>G (p.His533Asp)
c.448-13204C>G (n.448-13204C>G)
c.*93+3225C>G (n.*93+3225C>G)
n.2243C>G
c.1570C>G (p.His524Asp)
n.2166C>G
22g.29681548C>TCA032603NF2c.1549C>T (p.His517Tyr)
c.*1178C>T (n.*1178C>T)
c.1684C>T (p.His562Tyr)
c.1102C>T (p.His368Tyr)
c.*1566C>T (n.*1566C>T)
c.1703C>T (n.1703C>T)
c.1435C>T (p.His479Tyr)
c.1561C>T (p.His521Tyr)
c.1558C>T (p.His520Tyr)
c.1597C>T (p.His533Tyr)
c.448-13204C>T (n.448-13204C>T)
c.*93+3225C>T (n.*93+3225C>T)
n.2243C>T
c.1570C>T (p.His524Tyr)
n.2166C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.29681549A=CA2400686838NF2c.1550A= (p.His517=)
c.*1179A= (n.*1179A=)
c.1685A= (p.His562=)
c.1103A= (p.His368=)
c.*1567A= (n.*1567A=)
c.1704A= (n.1704A=)
c.1436A= (p.His479=)
c.1562A= (p.His521=)
c.1559A= (p.His520=)
c.1598A= (p.His533=)
c.448-13203A= (n.448-13203A=)
c.*93+3226A= (n.*93+3226A=)
n.2244A=
c.1571A= (p.His524=)
n.2167A=
22g.29681549A>CCA411150338NF2c.1550A>C (p.His517Pro)
c.*1179A>C (n.*1179A>C)
c.1685A>C (p.His562Pro)
c.1103A>C (p.His368Pro)
c.*1567A>C (n.*1567A>C)
c.1704A>C (n.1704A>C)
c.1436A>C (p.His479Pro)
c.1562A>C (p.His521Pro)
c.1559A>C (p.His520Pro)
c.1598A>C (p.His533Pro)
c.448-13203A>C (n.448-13203A>C)
c.*93+3226A>C (n.*93+3226A>C)
n.2244A>C
c.1571A>C (p.His524Pro)
n.2167A>C
22g.29681549A>GCA411150339NF2c.1550A>G (p.His517Arg)
c.*1179A>G (n.*1179A>G)
c.1685A>G (p.His562Arg)
c.1103A>G (p.His368Arg)
c.*1567A>G (n.*1567A>G)
c.1704A>G (n.1704A>G)
c.1436A>G (p.His479Arg)
c.1562A>G (p.His521Arg)
c.1559A>G (p.His520Arg)
c.1598A>G (p.His533Arg)
c.448-13203A>G (n.448-13203A>G)
c.*93+3226A>G (n.*93+3226A>G)
n.2244A>G
c.1571A>G (p.His524Arg)
n.2167A>G
 ClinVar dbSNP
22g.29681549A>TCA10583925NF2c.1550A>T (p.His517Leu)
c.*1179A>T (n.*1179A>T)
c.1685A>T (p.His562Leu)
c.1103A>T (p.His368Leu)
c.*1567A>T (n.*1567A>T)
c.1704A>T (n.1704A>T)
c.1436A>T (p.His479Leu)
c.1562A>T (p.His521Leu)
c.1559A>T (p.His520Leu)
c.1598A>T (p.His533Leu)
c.448-13203A>T (n.448-13203A>T)
c.*93+3226A>T (n.*93+3226A>T)
n.2244A>T
c.1571A>T (p.His524Leu)
n.2167A>T
 ClinVar dbSNP gnomAD v4
22g.29681550C>ACA411150342NF2c.1551C>A (p.His517Gln)
c.*1180C>A (n.*1180C>A)
c.1686C>A (p.His562Gln)
c.1104C>A (p.His368Gln)
c.*1568C>A (n.*1568C>A)
c.1705C>A (n.1705C>A)
c.1437C>A (p.His479Gln)
c.1563C>A (p.His521Gln)
c.1560C>A (p.His520Gln)
c.1599C>A (p.His533Gln)
c.448-13202C>A (n.448-13202C>A)
c.*93+3227C>A (n.*93+3227C>A)
n.2245C>A
c.1572C>A (p.His524Gln)
n.2168C>A
22g.29681550C=CA2400686839NF2c.1551C= (p.His517=)
c.*1180C= (n.*1180C=)
c.1686C= (p.His562=)
c.1104C= (p.His368=)
c.*1568C= (n.*1568C=)
c.1705C= (n.1705C=)
c.1437C= (p.His479=)
c.1563C= (p.His521=)
c.1560C= (p.His520=)
c.1599C= (p.His533=)
c.448-13202C= (n.448-13202C=)
c.*93+3227C= (n.*93+3227C=)
n.2245C=
c.1572C= (p.His524=)
n.2168C=
22g.29681550C>GCA411150344NF2c.1551C>G (p.His517Gln)
c.*1180C>G (n.*1180C>G)
c.1686C>G (p.His562Gln)
c.1104C>G (p.His368Gln)
c.*1568C>G (n.*1568C>G)
c.1705C>G (n.1705C>G)
c.1437C>G (p.His479Gln)
c.1563C>G (p.His521Gln)
c.1560C>G (p.His520Gln)
c.1599C>G (p.His533Gln)
c.448-13202C>G (n.448-13202C>G)
c.*93+3227C>G (n.*93+3227C>G)
n.2245C>G
c.1572C>G (p.His524Gln)
n.2168C>G
22g.29681550C>TCA514190631NF2c.1551C>T (p.His517=)
c.*1180C>T (n.*1180C>T)
c.1686C>T (p.His562=)
c.1104C>T (p.His368=)
c.*1568C>T (n.*1568C>T)
c.1705C>T (n.1705C>T)
c.1437C>T (p.His479=)
c.1563C>T (p.His521=)
c.1560C>T (p.His520=)
c.1599C>T (p.His533=)
c.448-13202C>T (n.448-13202C>T)
c.*93+3227C>T (n.*93+3227C>T)
n.2245C>T
c.1572C>T (p.His524=)
n.2168C>T
 dbSNP
22g.29681551A>CCA411150346NF2c.1552A>C (p.Asn518His)
c.*1181A>C (n.*1181A>C)
c.1687A>C (p.Asn563His)
c.1105A>C (p.Asn369His)
c.*1569A>C (n.*1569A>C)
c.1706A>C (n.1706A>C)
c.1438A>C (p.Asn480His)
c.1564A>C (p.Asn522His)
c.1561A>C (p.Asn521His)
c.1600A>C (p.Asn534His)
c.448-13201A>C (n.448-13201A>C)
c.*93+3228A>C (n.*93+3228A>C)
n.2246A>C
c.1573A>C (p.Asn525His)
n.2169A>C
22g.29681551A>GCA411150348NF2c.1552A>G (p.Asn518Asp)
c.*1181A>G (n.*1181A>G)
c.1687A>G (p.Asn563Asp)
c.1105A>G (p.Asn369Asp)
c.*1569A>G (n.*1569A>G)
c.1706A>G (n.1706A>G)
c.1438A>G (p.Asn480Asp)
c.1564A>G (p.Asn522Asp)
c.1561A>G (p.Asn521Asp)
c.1600A>G (p.Asn534Asp)
c.448-13201A>G (n.448-13201A>G)
c.*93+3228A>G (n.*93+3228A>G)
n.2246A>G
c.1573A>G (p.Asn525Asp)
n.2169A>G
 ClinVar COSMIC COSMIC
22g.29681551A>TCA411150349NF2c.1552A>T (p.Asn518Tyr)
c.*1181A>T (n.*1181A>T)
c.1687A>T (p.Asn563Tyr)
c.1105A>T (p.Asn369Tyr)
c.*1569A>T (n.*1569A>T)
c.1706A>T (n.1706A>T)
c.1438A>T (p.Asn480Tyr)
c.1564A>T (p.Asn522Tyr)
c.1561A>T (p.Asn521Tyr)
c.1600A>T (p.Asn534Tyr)
c.448-13201A>T (n.448-13201A>T)
c.*93+3228A>T (n.*93+3228A>T)
n.2246A>T
c.1573A>T (p.Asn525Tyr)
n.2169A>T
22g.29681552A=CA2400686840NF2c.1553A= (p.Asn518=)
c.*1182A= (n.*1182A=)
c.1688A= (p.Asn563=)
c.1106A= (p.Asn369=)
c.*1570A= (n.*1570A=)
c.1707A= (n.1707A=)
c.1439A= (p.Asn480=)
c.1565A= (p.Asn522=)
c.1562A= (p.Asn521=)
c.1601A= (p.Asn534=)
c.448-13200A= (n.448-13200A=)
c.*93+3229A= (n.*93+3229A=)
n.2247A=
c.1574A= (p.Asn525=)
n.2170A=
22g.29681552A>CCA411150351NF2c.1553A>C (p.Asn518Thr)
c.*1182A>C (n.*1182A>C)
c.1688A>C (p.Asn563Thr)
c.1106A>C (p.Asn369Thr)
c.*1570A>C (n.*1570A>C)
c.1707A>C (n.1707A>C)
c.1439A>C (p.Asn480Thr)
c.1565A>C (p.Asn522Thr)
c.1562A>C (p.Asn521Thr)
c.1601A>C (p.Asn534Thr)
c.448-13200A>C (n.448-13200A>C)
c.*93+3229A>C (n.*93+3229A>C)
n.2247A>C
c.1574A>C (p.Asn525Thr)
n.2170A>C
22g.29681552A>GCA323121011NF2c.1553A>G (p.Asn518Ser)
c.*1182A>G (n.*1182A>G)
c.1688A>G (p.Asn563Ser)
c.1106A>G (p.Asn369Ser)
c.*1570A>G (n.*1570A>G)
c.1707A>G (n.1707A>G)
c.1439A>G (p.Asn480Ser)
c.1565A>G (p.Asn522Ser)
c.1562A>G (p.Asn521Ser)
c.1601A>G (p.Asn534Ser)
c.448-13200A>G (n.448-13200A>G)
c.*93+3229A>G (n.*93+3229A>G)
n.2247A>G
c.1574A>G (p.Asn525Ser)
n.2170A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.29681552A>TCA411150354NF2c.1553A>T (p.Asn518Ile)
c.*1182A>T (n.*1182A>T)
c.1688A>T (p.Asn563Ile)
c.1106A>T (p.Asn369Ile)
c.*1570A>T (n.*1570A>T)
c.1707A>T (n.1707A>T)
c.1439A>T (p.Asn480Ile)
c.1565A>T (p.Asn522Ile)
c.1562A>T (p.Asn521Ile)
c.1601A>T (p.Asn534Ile)
c.448-13200A>T (n.448-13200A>T)
c.*93+3229A>T (n.*93+3229A>T)
n.2247A>T
c.1574A>T (p.Asn525Ile)
n.2170A>T
22g.29681553T>ACA411150358NF2c.1554T>A (p.Asn518Lys)
c.*1183T>A (n.*1183T>A)
c.1689T>A (p.Asn563Lys)
c.1107T>A (p.Asn369Lys)
c.*1571T>A (n.*1571T>A)
c.1708T>A (n.1708T>A)
c.1440T>A (p.Asn480Lys)
c.1566T>A (p.Asn522Lys)
c.1563T>A (p.Asn521Lys)
c.1602T>A (p.Asn534Lys)
c.448-13199T>A (n.448-13199T>A)
c.*93+3230T>A (n.*93+3230T>A)
n.2248T>A
c.1575T>A (p.Asn525Lys)
n.2171T>A
22g.29681553T>CCA514190632NF2c.1554T>C (p.Asn518=)
c.*1183T>C (n.*1183T>C)
c.1689T>C (p.Asn563=)
c.1107T>C (p.Asn369=)
c.*1571T>C (n.*1571T>C)
c.1708T>C (n.1708T>C)
c.1440T>C (p.Asn480=)
c.1566T>C (p.Asn522=)
c.1563T>C (p.Asn521=)
c.1602T>C (p.Asn534=)
c.448-13199T>C (n.448-13199T>C)
c.*93+3230T>C (n.*93+3230T>C)
n.2248T>C
c.1575T>C (p.Asn525=)
n.2171T>C
 ClinVar
22g.29681553T>GCA411150356NF2c.1554T>G (p.Asn518Lys)
c.*1183T>G (n.*1183T>G)
c.1689T>G (p.Asn563Lys)
c.1107T>G (p.Asn369Lys)
c.*1571T>G (n.*1571T>G)
c.1708T>G (n.1708T>G)
c.1440T>G (p.Asn480Lys)
c.1566T>G (p.Asn522Lys)
c.1563T>G (p.Asn521Lys)
c.1602T>G (p.Asn534Lys)
c.448-13199T>G (n.448-13199T>G)
c.*93+3230T>G (n.*93+3230T>G)
n.2248T>G
c.1575T>G (p.Asn525Lys)
n.2171T>G
 gnomAD v4
22g.29681554G>ACA411150359NF2c.1555G>A (p.Glu519Lys)
c.*1184G>A (n.*1184G>A)
c.1690G>A (p.Glu564Lys)
c.1108G>A (p.Glu370Lys)
c.*1572G>A (n.*1572G>A)
c.1709G>A (n.1709G>A)
c.1441G>A (p.Glu481Lys)
c.1567G>A (p.Glu523Lys)
c.1564G>A (p.Glu522Lys)
c.1603G>A (p.Glu535Lys)
c.448-13198G>A (n.448-13198G>A)
c.*93+3231G>A (n.*93+3231G>A)
n.2249G>A
c.1576G>A (p.Glu526Lys)
n.2172G>A
 ClinVar
22g.29681554G>CCA411150360NF2c.1555G>C (p.Glu519Gln)
c.*1184G>C (n.*1184G>C)
c.1690G>C (p.Glu564Gln)
c.1108G>C (p.Glu370Gln)
c.*1572G>C (n.*1572G>C)
c.1709G>C (n.1709G>C)
c.1441G>C (p.Glu481Gln)
c.1567G>C (p.Glu523Gln)
c.1564G>C (p.Glu522Gln)
c.1603G>C (p.Glu535Gln)
c.448-13198G>C (n.448-13198G>C)
c.*93+3231G>C (n.*93+3231G>C)
n.2249G>C
c.1576G>C (p.Glu526Gln)
n.2172G>C
22g.29681554G>TCA411150361NF2c.1555G>T (p.Glu519Ter)
c.*1184G>T (n.*1184G>T)
c.1690G>T (p.Glu564Ter)
c.1108G>T (p.Glu370Ter)
c.*1572G>T (n.*1572G>T)
c.1709G>T (n.1709G>T)
c.1441G>T (p.Glu481Ter)
c.1567G>T (p.Glu523Ter)
c.1564G>T (p.Glu522Ter)
c.1603G>T (p.Glu535Ter)
c.448-13198G>T (n.448-13198G>T)
c.*93+3231G>T (n.*93+3231G>T)
n.2249G>T
c.1576G>T (p.Glu526Ter)
n.2172G>T
 gnomAD v4
22g.29681554_29681556delCA2656032906NF2c.1555_1557del (p.Glu519del)
c.*1184_*1186del (n.*1184_*1186del)
c.1690_1692del (p.Glu564del)
c.1108_1110del (p.Glu370del)
c.*1572_*1574del (n.*1572_*1574del)
c.1709_1711del (n.1709_1711del)
c.1441_1443del (p.Glu481del)
c.1567_1569del (p.Glu523del)
c.1564_1566del (p.Glu522del)
c.1603_1605del (p.Glu535del)
c.448-13198_448-13196del (n.448-13198_448-13196del)
c.*93+3231_*93+3233del (n.*93+3231_*93+3233del)
n.2249_2251del
c.1576_1578del (p.Glu526del)
n.2172_2174del
 gnomAD v4
22g.29681555A=CA2400686841NF2c.1556A= (p.Glu519=)
c.*1185A= (n.*1185A=)
c.1691A= (p.Glu564=)
c.1109A= (p.Glu370=)
c.*1573A= (n.*1573A=)
c.1710A= (n.1710A=)
c.1442A= (p.Glu481=)
c.1568A= (p.Glu523=)
c.1565A= (p.Glu522=)
c.1604A= (p.Glu535=)
c.448-13197A= (n.448-13197A=)
c.*93+3232A= (n.*93+3232A=)
n.2250A=
c.1577A= (p.Glu526=)
n.2173A=
22g.29681555A>CCA411150362NF2c.1556A>C (p.Glu519Ala)
c.*1185A>C (n.*1185A>C)
c.1691A>C (p.Glu564Ala)
c.1109A>C (p.Glu370Ala)
c.*1573A>C (n.*1573A>C)
c.1710A>C (n.1710A>C)
c.1442A>C (p.Glu481Ala)
c.1568A>C (p.Glu523Ala)
c.1565A>C (p.Glu522Ala)
c.1604A>C (p.Glu535Ala)
c.448-13197A>C (n.448-13197A>C)
c.*93+3232A>C (n.*93+3232A>C)
n.2250A>C
c.1577A>C (p.Glu526Ala)
n.2173A>C
22g.29681555A>GCA411150364NF2c.1556A>G (p.Glu519Gly)
c.*1185A>G (n.*1185A>G)
c.1691A>G (p.Glu564Gly)
c.1109A>G (p.Glu370Gly)
c.*1573A>G (n.*1573A>G)
c.1710A>G (n.1710A>G)
c.1442A>G (p.Glu481Gly)
c.1568A>G (p.Glu523Gly)
c.1565A>G (p.Glu522Gly)
c.1604A>G (p.Glu535Gly)
c.448-13197A>G (n.448-13197A>G)
c.*93+3232A>G (n.*93+3232A>G)
n.2250A>G
c.1577A>G (p.Glu526Gly)
n.2173A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.29681555A>TCA411150366NF2c.1556A>T (p.Glu519Val)
c.*1185A>T (n.*1185A>T)
c.1691A>T (p.Glu564Val)
c.1109A>T (p.Glu370Val)
c.*1573A>T (n.*1573A>T)
c.1710A>T (n.1710A>T)
c.1442A>T (p.Glu481Val)
c.1568A>T (p.Glu523Val)
c.1565A>T (p.Glu522Val)
c.1604A>T (p.Glu535Val)
c.448-13197A>T (n.448-13197A>T)
c.*93+3232A>T (n.*93+3232A>T)
n.2250A>T
c.1577A>T (p.Glu526Val)
n.2173A>T
22g.29681556G>ACA514190634NF2c.1557G>A (p.Glu519=)
c.*1186G>A (n.*1186G>A)
c.1692G>A (p.Glu564=)
c.1110G>A (p.Glu370=)
c.*1574G>A (n.*1574G>A)
c.1711G>A (n.1711G>A)
c.1443G>A (p.Glu481=)
c.1569G>A (p.Glu523=)
c.1566G>A (p.Glu522=)
c.1605G>A (p.Glu535=)
c.448-13196G>A (n.448-13196G>A)
c.*93+3233G>A (n.*93+3233G>A)
n.2251G>A
c.1578G>A (p.Glu526=)
n.2174G>A
 ClinVar dbSNP
22g.29681556G>CCA411150368NF2c.1557G>C (p.Glu519Asp)
c.*1186G>C (n.*1186G>C)
c.1692G>C (p.Glu564Asp)
c.1110G>C (p.Glu370Asp)
c.*1574G>C (n.*1574G>C)
c.1711G>C (n.1711G>C)
c.1443G>C (p.Glu481Asp)
c.1569G>C (p.Glu523Asp)
c.1566G>C (p.Glu522Asp)
c.1605G>C (p.Glu535Asp)
c.448-13196G>C (n.448-13196G>C)
c.*93+3233G>C (n.*93+3233G>C)
n.2251G>C
c.1578G>C (p.Glu526Asp)
n.2174G>C
 dbSNP
22g.29681556G=CA2400686842NF2c.1557G= (p.Glu519=)
c.*1186G= (n.*1186G=)
c.1692G= (p.Glu564=)
c.1110G= (p.Glu370=)
c.*1574G= (n.*1574G=)
c.1711G= (n.1711G=)
c.1443G= (p.Glu481=)
c.1569G= (p.Glu523=)
c.1566G= (p.Glu522=)
c.1605G= (p.Glu535=)
c.448-13196G= (n.448-13196G=)
c.*93+3233G= (n.*93+3233G=)
n.2251G=
c.1578G= (p.Glu526=)
n.2174G=
22g.29681556G>TCA411150369NF2c.1557G>T (p.Glu519Asp)
c.*1186G>T (n.*1186G>T)
c.1692G>T (p.Glu564Asp)
c.1110G>T (p.Glu370Asp)
c.*1574G>T (n.*1574G>T)
c.1711G>T (n.1711G>T)
c.1443G>T (p.Glu481Asp)
c.1569G>T (p.Glu523Asp)
c.1566G>T (p.Glu522Asp)
c.1605G>T (p.Glu535Asp)
c.448-13196G>T (n.448-13196G>T)
c.*93+3233G>T (n.*93+3233G>T)
n.2251G>T
c.1578G>T (p.Glu526Asp)
n.2174G>T
22g.29681557A=CA2400686843NF2c.1558A= (p.Asn520=)
c.*1187A= (n.*1187A=)
c.1693A= (p.Asn565=)
c.1111A= (p.Asn371=)
c.*1575A= (n.*1575A=)
c.1712A= (n.1712A=)
c.1444A= (p.Asn482=)
c.1570A= (p.Asn524=)
c.1567A= (p.Asn523=)
c.1606A= (p.Asn536=)
c.448-13195A= (n.448-13195A=)
c.*93+3234A= (n.*93+3234A=)
n.2252A=
c.1579A= (p.Asn527=)
n.2175A=
22g.29681557A>CCA411150370NF2c.1558A>C (p.Asn520His)
c.*1187A>C (n.*1187A>C)
c.1693A>C (p.Asn565His)
c.1111A>C (p.Asn371His)
c.*1575A>C (n.*1575A>C)
c.1712A>C (n.1712A>C)
c.1444A>C (p.Asn482His)
c.1570A>C (p.Asn524His)
c.1567A>C (p.Asn523His)
c.1606A>C (p.Asn536His)
c.448-13195A>C (n.448-13195A>C)
c.*93+3234A>C (n.*93+3234A>C)
n.2252A>C
c.1579A>C (p.Asn527His)
n.2175A>C
22g.29681557A>GCA411150372NF2c.1558A>G (p.Asn520Asp)
c.*1187A>G (n.*1187A>G)
c.1693A>G (p.Asn565Asp)
c.1111A>G (p.Asn371Asp)
c.*1575A>G (n.*1575A>G)
c.1712A>G (n.1712A>G)
c.1444A>G (p.Asn482Asp)
c.1570A>G (p.Asn524Asp)
c.1567A>G (p.Asn523Asp)
c.1606A>G (p.Asn536Asp)
c.448-13195A>G (n.448-13195A>G)
c.*93+3234A>G (n.*93+3234A>G)
n.2252A>G
c.1579A>G (p.Asn527Asp)
n.2175A>G
22g.29681557A>TCA411150374NF2c.1558A>T (p.Asn520Tyr)
c.*1187A>T (n.*1187A>T)
c.1693A>T (p.Asn565Tyr)
c.1111A>T (p.Asn371Tyr)
c.*1575A>T (n.*1575A>T)
c.1712A>T (n.1712A>T)
c.1444A>T (p.Asn482Tyr)
c.1570A>T (p.Asn524Tyr)
c.1567A>T (p.Asn523Tyr)
c.1606A>T (p.Asn536Tyr)
c.448-13195A>T (n.448-13195A>T)
c.*93+3234A>T (n.*93+3234A>T)
n.2252A>T
c.1579A>T (p.Asn527Tyr)
n.2175A>T
 ClinVar dbSNP
22g.29681558A>CCA411150376NF2c.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
22g.29681558A>GCA411150378NF2c.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
22g.29681558A>TCA411150379NF2c.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
22g.29681559C>ACA411150380NF2c.1560C>A (p.Asn520Lys)
c.*1189C>A (n.*1189C>A)
c.1695C>A (p.Asn565Lys)
c.1113C>A (p.Asn371Lys)
c.*1577C>A (n.*1577C>A)
c.1714C>A (n.1714C>A)
c.1446C>A (p.Asn482Lys)
c.1572C>A (p.Asn524Lys)
c.1569C>A (p.Asn523Lys)
c.1608C>A (p.Asn536Lys)
c.448-13193C>A (n.448-13193C>A)
c.*93+3236C>A (n.*93+3236C>A)
n.2254C>A
c.1581C>A (p.Asn527Lys)
n.2177C>A
22g.29681559C>GCA411150382NF2c.1560C>G (p.Asn520Lys)
c.*1189C>G (n.*1189C>G)
c.1695C>G (p.Asn565Lys)
c.1113C>G (p.Asn371Lys)
c.*1577C>G (n.*1577C>G)
c.1714C>G (n.1714C>G)
c.1446C>G (p.Asn482Lys)
c.1572C>G (p.Asn524Lys)
c.1569C>G (p.Asn523Lys)
c.1608C>G (p.Asn536Lys)
c.448-13193C>G (n.448-13193C>G)
c.*93+3236C>G (n.*93+3236C>G)
n.2254C>G
c.1581C>G (p.Asn527Lys)
n.2177C>G
22g.29681559C>TCA514190635NF2c.1560C>T (p.Asn520=)
c.*1189C>T (n.*1189C>T)
c.1695C>T (p.Asn565=)
c.1113C>T (p.Asn371=)
c.*1577C>T (n.*1577C>T)
c.1714C>T (n.1714C>T)
c.1446C>T (p.Asn482=)
c.1572C>T (p.Asn524=)
c.1569C>T (p.Asn523=)
c.1608C>T (p.Asn536=)
c.448-13193C>T (n.448-13193C>T)
c.*93+3236C>T (n.*93+3236C>T)
n.2254C>T
c.1581C>T (p.Asn527=)
n.2177C>T
 dbSNP
22g.29681560T>ACA411150385NF2c.1561T>A (p.Ser521Thr)
c.*1190T>A (n.*1190T>A)
c.1696T>A (p.Ser566Thr)
c.1114T>A (p.Ser372Thr)
c.*1578T>A (n.*1578T>A)
c.1715T>A (n.1715T>A)
c.1447T>A (p.Ser483Thr)
c.1573T>A (p.Ser525Thr)
c.1570T>A (p.Ser524Thr)
c.1609T>A (p.Ser537Thr)
c.448-13192T>A (n.448-13192T>A)
c.*93+3237T>A (n.*93+3237T>A)
n.2255T>A
c.1582T>A (p.Ser528Thr)
n.2178T>A
22g.29681560T>CCA411150386NF2c.1561T>C (p.Ser521Pro)
c.*1190T>C (n.*1190T>C)
c.1696T>C (p.Ser566Pro)
c.1114T>C (p.Ser372Pro)
c.*1578T>C (n.*1578T>C)
c.1715T>C (n.1715T>C)
c.1447T>C (p.Ser483Pro)
c.1573T>C (p.Ser525Pro)
c.1570T>C (p.Ser524Pro)
c.1609T>C (p.Ser537Pro)
c.448-13192T>C (n.448-13192T>C)
c.*93+3237T>C (n.*93+3237T>C)
n.2255T>C
c.1582T>C (p.Ser528Pro)
n.2178T>C
 ClinVar
22g.29681560T>GCA411150388NF2c.1561T>G (p.Ser521Ala)
c.*1190T>G (n.*1190T>G)
c.1696T>G (p.Ser566Ala)
c.1114T>G (p.Ser372Ala)
c.*1578T>G (n.*1578T>G)
c.1715T>G (n.1715T>G)
c.1447T>G (p.Ser483Ala)
c.1573T>G (p.Ser525Ala)
c.1570T>G (p.Ser524Ala)
c.1609T>G (p.Ser537Ala)
c.448-13192T>G (n.448-13192T>G)
c.*93+3237T>G (n.*93+3237T>G)
n.2255T>G
c.1582T>G (p.Ser528Ala)
n.2178T>G
22g.29681561C>ACA411150390NF2c.1562C>A (p.Ser521Tyr)
c.*1191C>A (n.*1191C>A)
c.1697C>A (p.Ser566Tyr)
c.1115C>A (p.Ser372Tyr)
c.*1579C>A (n.*1579C>A)
c.1716C>A (n.1716C>A)
c.1448C>A (p.Ser483Tyr)
c.1574C>A (p.Ser525Tyr)
c.1571C>A (p.Ser524Tyr)
c.1610C>A (p.Ser537Tyr)
c.448-13191C>A (n.448-13191C>A)
c.*93+3238C>A (n.*93+3238C>A)
n.2256C>A
c.1583C>A (p.Ser528Tyr)
n.2179C>A
22g.29681561C>GCA411150392NF2c.1562C>G (p.Ser521Cys)
c.*1191C>G (n.*1191C>G)
c.1697C>G (p.Ser566Cys)
c.1115C>G (p.Ser372Cys)
c.*1579C>G (n.*1579C>G)
c.1716C>G (n.1716C>G)
c.1448C>G (p.Ser483Cys)
c.1574C>G (p.Ser525Cys)
c.1571C>G (p.Ser524Cys)
c.1610C>G (p.Ser537Cys)
c.448-13191C>G (n.448-13191C>G)
c.*93+3238C>G (n.*93+3238C>G)
n.2256C>G
c.1583C>G (p.Ser528Cys)
n.2179C>G
 gnomAD v4
22g.29681561C>TCA411150394NF2c.1562C>T (p.Ser521Phe)
c.*1191C>T (n.*1191C>T)
c.1697C>T (p.Ser566Phe)
c.1115C>T (p.Ser372Phe)
c.*1579C>T (n.*1579C>T)
c.1716C>T (n.1716C>T)
c.1448C>T (p.Ser483Phe)
c.1574C>T (p.Ser525Phe)
c.1571C>T (p.Ser524Phe)
c.1610C>T (p.Ser537Phe)
c.448-13191C>T (n.448-13191C>T)
c.*93+3238C>T (n.*93+3238C>T)
n.2256C>T
c.1583C>T (p.Ser528Phe)
n.2179C>T
22g.29681562C>ACA514190637NF2c.1563C>A (p.Ser521=)
c.*1192C>A (n.*1192C>A)
c.1698C>A (p.Ser566=)
c.1116C>A (p.Ser372=)
c.*1580C>A (n.*1580C>A)
c.1717C>A (n.1717C>A)
c.1449C>A (p.Ser483=)
c.1575C>A (p.Ser525=)
c.1572C>A (p.Ser524=)
c.1611C>A (p.Ser537=)
c.448-13190C>A (n.448-13190C>A)
c.*93+3239C>A (n.*93+3239C>A)
n.2257C>A
c.1584C>A (p.Ser528=)
n.2180C>A
22g.29681562C=CA2400686844NF2c.1563C= (p.Ser521=)
c.*1192C= (n.*1192C=)
c.1698C= (p.Ser566=)
c.1116C= (p.Ser372=)
c.*1580C= (n.*1580C=)
c.1717C= (n.1717C=)
c.1449C= (p.Ser483=)
c.1575C= (p.Ser525=)
c.1572C= (p.Ser524=)
c.1611C= (p.Ser537=)
c.448-13190C= (n.448-13190C=)
c.*93+3239C= (n.*93+3239C=)
n.2257C=
c.1584C= (p.Ser528=)
n.2180C=
22g.29681562C>GCA514190638NF2c.1563C>G (p.Ser521=)
c.*1192C>G (n.*1192C>G)
c.1698C>G (p.Ser566=)
c.1116C>G (p.Ser372=)
c.*1580C>G (n.*1580C>G)
c.1717C>G (n.1717C>G)
c.1449C>G (p.Ser483=)
c.1575C>G (p.Ser525=)
c.1572C>G (p.Ser524=)
c.1611C>G (p.Ser537=)
c.448-13190C>G (n.448-13190C>G)
c.*93+3239C>G (n.*93+3239C>G)
n.2257C>G
c.1584C>G (p.Ser528=)
n.2180C>G
22g.29681562C>TCA032634NF2c.1563C>T (p.Ser521=)
c.*1192C>T (n.*1192C>T)
c.1698C>T (p.Ser566=)
c.1116C>T (p.Ser372=)
c.*1580C>T (n.*1580C>T)
c.1717C>T (n.1717C>T)
c.1449C>T (p.Ser483=)
c.1575C>T (p.Ser525=)
c.1572C>T (p.Ser524=)
c.1611C>T (p.Ser537=)
c.448-13190C>T (n.448-13190C>T)
c.*93+3239C>T (n.*93+3239C>T)
n.2257C>T
c.1584C>T (p.Ser528=)
n.2180C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22g.29681563G>ACA032649NF2c.1564G>A (p.Asp522Asn)
c.*1193G>A (n.*1193G>A)
c.1699G>A (p.Asp567Asn)
c.1117G>A (p.Asp373Asn)
c.*1581G>A (n.*1581G>A)
c.1718G>A (n.1718G>A)
c.1450G>A (p.Asp484Asn)
c.1576G>A (p.Asp526Asn)
c.1573G>A (p.Asp525Asn)
c.1612G>A (p.Asp538Asn)
c.448-13189G>A (n.448-13189G>A)
c.*93+3240G>A (n.*93+3240G>A)
n.2258G>A
c.1585G>A (p.Asp529Asn)
n.2181G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.29681563G>CCA411150397NF2c.1564G>C (p.Asp522His)
c.*1193G>C (n.*1193G>C)
c.1699G>C (p.Asp567His)
c.1117G>C (p.Asp373His)
c.*1581G>C (n.*1581G>C)
c.1718G>C (n.1718G>C)
c.1450G>C (p.Asp484His)
c.1576G>C (p.Asp526His)
c.1573G>C (p.Asp525His)
c.1612G>C (p.Asp538His)
c.448-13189G>C (n.448-13189G>C)
c.*93+3240G>C (n.*93+3240G>C)
n.2258G>C
c.1585G>C (p.Asp529His)
n.2181G>C
22g.29681563G=CA2400686845NF2c.1564G= (p.Asp522=)
c.*1193G= (n.*1193G=)
c.1699G= (p.Asp567=)
c.1117G= (p.Asp373=)
c.*1581G= (n.*1581G=)
c.1718G= (n.1718G=)
c.1450G= (p.Asp484=)
c.1576G= (p.Asp526=)
c.1573G= (p.Asp525=)
c.1612G= (p.Asp538=)
c.448-13189G= (n.448-13189G=)
c.*93+3240G= (n.*93+3240G=)
n.2258G=
c.1585G= (p.Asp529=)
n.2181G=
22g.29681563G>TCA411150399NF2c.1564G>T (p.Asp522Tyr)
c.*1193G>T (n.*1193G>T)
c.1699G>T (p.Asp567Tyr)
c.1117G>T (p.Asp373Tyr)
c.*1581G>T (n.*1581G>T)
c.1718G>T (n.1718G>T)
c.1450G>T (p.Asp484Tyr)
c.1576G>T (p.Asp526Tyr)
c.1573G>T (p.Asp525Tyr)
c.1612G>T (p.Asp538Tyr)
c.448-13189G>T (n.448-13189G>T)
c.*93+3240G>T (n.*93+3240G>T)
n.2258G>T
c.1585G>T (p.Asp529Tyr)
n.2181G>T
22g.29681564A>CCA411150401NF2c.1565A>C (p.Asp522Ala)
c.*1194A>C (n.*1194A>C)
c.1700A>C (p.Asp567Ala)
c.1118A>C (p.Asp373Ala)
c.*1582A>C (n.*1582A>C)
c.1719A>C (n.1719A>C)
c.1451A>C (p.Asp484Ala)
c.1577A>C (p.Asp526Ala)
c.1574A>C (p.Asp525Ala)
c.1613A>C (p.Asp538Ala)
c.448-13188A>C (n.448-13188A>C)
c.*93+3241A>C (n.*93+3241A>C)
n.2259A>C
c.1586A>C (p.Asp529Ala)
n.2182A>C
22g.29681564A>GCA411150403NF2c.1565A>G (p.Asp522Gly)
c.*1194A>G (n.*1194A>G)
c.1700A>G (p.Asp567Gly)
c.1118A>G (p.Asp373Gly)
c.*1582A>G (n.*1582A>G)
c.1719A>G (n.1719A>G)
c.1451A>G (p.Asp484Gly)
c.1577A>G (p.Asp526Gly)
c.1574A>G (p.Asp525Gly)
c.1613A>G (p.Asp538Gly)
c.448-13188A>G (n.448-13188A>G)
c.*93+3241A>G (n.*93+3241A>G)
n.2259A>G
c.1586A>G (p.Asp529Gly)
n.2182A>G
22g.29681564A>TCA411150405NF2c.1565A>T (p.Asp522Val)
c.*1194A>T (n.*1194A>T)
c.1700A>T (p.Asp567Val)
c.1118A>T (p.Asp373Val)
c.*1582A>T (n.*1582A>T)
c.1719A>T (n.1719A>T)
c.1451A>T (p.Asp484Val)
c.1577A>T (p.Asp526Val)
c.1574A>T (p.Asp525Val)
c.1613A>T (p.Asp538Val)
c.448-13188A>T (n.448-13188A>T)
c.*93+3241A>T (n.*93+3241A>T)
n.2259A>T
c.1586A>T (p.Asp529Val)
n.2182A>T
22g.29681565C>ACA411150407NF2c.1566C>A (p.Asp522Glu)
c.*1195C>A (n.*1195C>A)
c.1701C>A (p.Asp567Glu)
c.1119C>A (p.Asp373Glu)
c.*1583C>A (n.*1583C>A)
c.1720C>A (n.1720C>A)
c.1452C>A (p.Asp484Glu)
c.1578C>A (p.Asp526Glu)
c.1575C>A (p.Asp525Glu)
c.1614C>A (p.Asp538Glu)
c.448-13187C>A (n.448-13187C>A)
c.*93+3242C>A (n.*93+3242C>A)
n.2260C>A
c.1587C>A (p.Asp529Glu)
n.2183C>A
22g.29681565C=CA2400686847NF2c.1566C= (p.Asp522=)
c.*1195C= (n.*1195C=)
c.1701C= (p.Asp567=)
c.1119C= (p.Asp373=)
c.*1583C= (n.*1583C=)
c.1720C= (n.1720C=)
c.1452C= (p.Asp484=)
c.1578C= (p.Asp526=)
c.1575C= (p.Asp525=)
c.1614C= (p.Asp538=)
c.448-13187C= (n.448-13187C=)
c.*93+3242C= (n.*93+3242C=)
n.2260C=
c.1587C= (p.Asp529=)
n.2183C=
22g.29681565C>GCA10175568NF2c.1566C>G (p.Asp522Glu)
c.*1195C>G (n.*1195C>G)
c.1701C>G (p.Asp567Glu)
c.1119C>G (p.Asp373Glu)
c.*1583C>G (n.*1583C>G)
c.1720C>G (n.1720C>G)
c.1452C>G (p.Asp484Glu)
c.1578C>G (p.Asp526Glu)
c.1575C>G (p.Asp525Glu)
c.1614C>G (p.Asp538Glu)
c.448-13187C>G (n.448-13187C>G)
c.*93+3242C>G (n.*93+3242C>G)
n.2260C>G
c.1587C>G (p.Asp529Glu)
n.2183C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.29681565C>TCA514190639NF2c.1566C>T (p.Asp522=)
c.*1195C>T (n.*1195C>T)
c.1701C>T (p.Asp567=)
c.1119C>T (p.Asp373=)
c.*1583C>T (n.*1583C>T)
c.1720C>T (n.1720C>T)
c.1452C>T (p.Asp484=)
c.1578C>T (p.Asp526=)
c.1575C>T (p.Asp525=)
c.1614C>T (p.Asp538=)
c.448-13187C>T (n.448-13187C>T)
c.*93+3242C>T (n.*93+3242C>T)
n.2260C>T
c.1587C>T (p.Asp529=)
n.2183C>T
22g.29681565_29681567delinsCAGCA2400686846NF2c.1566_1568delinsCAG (p.Asp522=)
c.*1195_*1197delinsCAG (n.*1195_*1197delinsCAG)
c.1701_1703delinsCAG (p.Asp567=)
c.1119_1121delinsCAG (p.Asp373=)
c.*1583_*1585delinsCAG (n.*1583_*1585delinsCAG)
c.1720_1722delinsCAG (n.1720_1722delinsCAG)
c.1452_1454delinsCAG (p.Asp484=)
c.1578_1580delinsCAG (p.Asp526=)
c.1575_1577delinsCAG (p.Asp525=)
c.1614_1616delinsCAG (p.Asp538=)
c.448-13187_448-13185delinsCAG (n.448-13187_448-13185delinsCAG)
c.*93+3242_*93+3244delinsCAG (n.*93+3242_*93+3244delinsCAG)
n.2260_2262delinsCAG
c.1587_1589delinsCAG (p.Asp529=)
n.2183_2185delinsCAG
22g.29681566A=CA2400686848NF2c.1567A= (p.Arg523=)
c.*1196A= (n.*1196A=)
c.1702A= (p.Arg568=)
c.1120A= (p.Arg374=)
c.*1584A= (n.*1584A=)
c.1721A= (n.1721A=)
c.1453A= (p.Arg485=)
c.1579A= (p.Arg527=)
c.1576A= (p.Arg526=)
c.1615A= (p.Arg539=)
c.448-13186A= (n.448-13186A=)
c.*93+3243A= (n.*93+3243A=)
n.2261A=
c.1588A= (p.Arg530=)
n.2184A=
22g.29681566A>CCA514190640NF2c.1567A>C (p.Arg523=)
c.*1196A>C (n.*1196A>C)
c.1702A>C (p.Arg568=)
c.1120A>C (p.Arg374=)
c.*1584A>C (n.*1584A>C)
c.1721A>C (n.1721A>C)
c.1453A>C (p.Arg485=)
c.1579A>C (p.Arg527=)
c.1576A>C (p.Arg526=)
c.1615A>C (p.Arg539=)
c.448-13186A>C (n.448-13186A>C)
c.*93+3243A>C (n.*93+3243A>C)
n.2261A>C
c.1588A>C (p.Arg530=)
n.2184A>C
22g.29681566A>GCA411150411NF2c.1567A>G (p.Arg523Gly)
c.*1196A>G (n.*1196A>G)
c.1702A>G (p.Arg568Gly)
c.1120A>G (p.Arg374Gly)
c.*1584A>G (n.*1584A>G)
c.1721A>G (n.1721A>G)
c.1453A>G (p.Arg485Gly)
c.1579A>G (p.Arg527Gly)
c.1576A>G (p.Arg526Gly)
c.1615A>G (p.Arg539Gly)
c.448-13186A>G (n.448-13186A>G)
c.*93+3243A>G (n.*93+3243A>G)
n.2261A>G
c.1588A>G (p.Arg530Gly)
n.2184A>G
 ClinVar dbSNP
22g.29681566A>TCA411150415NF2c.1567A>T (p.Arg523Trp)
c.*1196A>T (n.*1196A>T)
c.1702A>T (p.Arg568Trp)
c.1120A>T (p.Arg374Trp)
c.*1584A>T (n.*1584A>T)
c.1721A>T (n.1721A>T)
c.1453A>T (p.Arg485Trp)
c.1579A>T (p.Arg527Trp)
c.1576A>T (p.Arg526Trp)
c.1615A>T (p.Arg539Trp)
c.448-13186A>T (n.448-13186A>T)
c.*93+3243A>T (n.*93+3243A>T)
n.2261A>T
c.1588A>T (p.Arg530Trp)
n.2184A>T
22g.29681566_29681567delCA10175569NF2c.1567_1568del (p.Arg523GlyfsTer10)
c.*1196_*1197del (n.*1196_*1197del)
c.1702_1703del (p.Arg568GlyfsTer10)
c.1120_1121del (p.Arg374GlyfsTer10)
c.*1584_*1585del (n.*1584_*1585del)
c.1721_1722del (n.1721_1722del)
c.1453_1454del (p.Arg485GlyfsTer10)
c.1579_1580del (p.Arg527GlyfsTer10)
c.1576_1577del (p.Arg526GlyfsTer10)
c.1615_1616del (p.Arg539GlyfsTer10)
c.448-13186_448-13185del (n.448-13186_448-13185del)
c.*93+3243_*93+3244del (n.*93+3243_*93+3244del)
n.2261_2262del
c.1588_1589del (p.Arg530GlyfsTer10)
n.2184_2185del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.29681567G>ACA411150416NF2c.1568G>A (p.Arg523Lys)
c.*1197G>A (n.*1197G>A)
c.1703G>A (p.Arg568Lys)
c.1121G>A (p.Arg374Lys)
c.*1585G>A (n.*1585G>A)
c.1722G>A (n.1722G>A)
c.1454G>A (p.Arg485Lys)
c.1580G>A (p.Arg527Lys)
c.1577G>A (p.Arg526Lys)
c.1616G>A (p.Arg539Lys)
c.448-13185G>A (n.448-13185G>A)
c.*93+3244G>A (n.*93+3244G>A)
n.2262G>A
c.1589G>A (p.Arg530Lys)
n.2185G>A
 dbSNP gnomAD v3 gnomAD v4
22g.29681567G>CCA411150417NF2c.1568G>C (p.Arg523Thr)
c.*1197G>C (n.*1197G>C)
c.1703G>C (p.Arg568Thr)
c.1121G>C (p.Arg374Thr)
c.*1585G>C (n.*1585G>C)
c.1722G>C (n.1722G>C)
c.1454G>C (p.Arg485Thr)
c.1580G>C (p.Arg527Thr)
c.1577G>C (p.Arg526Thr)
c.1616G>C (p.Arg539Thr)
c.448-13185G>C (n.448-13185G>C)
c.*93+3244G>C (n.*93+3244G>C)
n.2262G>C
c.1589G>C (p.Arg530Thr)
n.2185G>C
 dbSNP
22g.29681567G=CA2400686849NF2c.1568G= (p.Arg523=)
c.*1197G= (n.*1197G=)
c.1703G= (p.Arg568=)
c.1121G= (p.Arg374=)
c.*1585G= (n.*1585G=)
c.1722G= (n.1722G=)
c.1454G= (p.Arg485=)
c.1580G= (p.Arg527=)
c.1577G= (p.Arg526=)
c.1616G= (p.Arg539=)
c.448-13185G= (n.448-13185G=)
c.*93+3244G= (n.*93+3244G=)
n.2262G=
c.1589G= (p.Arg530=)
n.2185G=
22g.29681567G>TCA411150419NF2c.1568G>T (p.Arg523Met)
c.*1197G>T (n.*1197G>T)
c.1703G>T (p.Arg568Met)
c.1121G>T (p.Arg374Met)
c.*1585G>T (n.*1585G>T)
c.1722G>T (n.1722G>T)
c.1454G>T (p.Arg485Met)
c.1580G>T (p.Arg527Met)
c.1577G>T (p.Arg526Met)
c.1616G>T (p.Arg539Met)
c.448-13185G>T (n.448-13185G>T)
c.*93+3244G>T (n.*93+3244G>T)
n.2262G>T
c.1589G>T (p.Arg530Met)
n.2185G>T
 ClinVar
22g.29681568G>ACA514190641NF2c.1569G>A (p.Arg523=)
c.*1198G>A (n.*1198G>A)
c.1704G>A (p.Arg568=)
c.1122G>A (p.Arg374=)
c.*1586G>A (n.*1586G>A)
c.1723G>A (n.1723G>A)
c.1455G>A (p.Arg485=)
c.1581G>A (p.Arg527=)
c.1578G>A (p.Arg526=)
c.1617G>A (p.Arg539=)
c.448-13184G>A (n.448-13184G>A)
c.*93+3245G>A (n.*93+3245G>A)
n.2263G>A
c.1590G>A (p.Arg530=)
n.2186G>A
 gnomAD v4
22g.29681568G>CCA411150420NF2c.1569G>C (p.Arg523Ser)
c.*1198G>C (n.*1198G>C)
c.1704G>C (p.Arg568Ser)
c.1122G>C (p.Arg374Ser)
c.*1586G>C (n.*1586G>C)
c.1723G>C (n.1723G>C)
c.1455G>C (p.Arg485Ser)
c.1581G>C (p.Arg527Ser)
c.1578G>C (p.Arg526Ser)
c.1617G>C (p.Arg539Ser)
c.448-13184G>C (n.448-13184G>C)
c.*93+3245G>C (n.*93+3245G>C)
n.2263G>C
c.1590G>C (p.Arg530Ser)
n.2186G>C
22g.29681568G>TCA411150422NF2c.1569G>T (p.Arg523Ser)
c.*1198G>T (n.*1198G>T)
c.1704G>T (p.Arg568Ser)
c.1122G>T (p.Arg374Ser)
c.*1586G>T (n.*1586G>T)
c.1723G>T (n.1723G>T)
c.1455G>T (p.Arg485Ser)
c.1581G>T (p.Arg527Ser)
c.1578G>T (p.Arg526Ser)
c.1617G>T (p.Arg539Ser)
c.448-13184G>T (n.448-13184G>T)
c.*93+3245G>T (n.*93+3245G>T)
n.2263G>T
c.1590G>T (p.Arg530Ser)
n.2186G>T
 ClinVar
22g.29681569G>ACA411150423NF2c.1570G>A (p.Gly524Ser)
c.*1199G>A (n.*1199G>A)
c.1705G>A (p.Gly569Ser)
c.1123G>A (p.Gly375Ser)
c.*1587G>A (n.*1587G>A)
c.1724G>A (n.1724G>A)
c.1456G>A (p.Gly486Ser)
c.1582G>A (p.Gly528Ser)
c.1579G>A (p.Gly527Ser)
c.1618G>A (p.Gly540Ser)
c.448-13183G>A (n.448-13183G>A)
c.*93+3246G>A (n.*93+3246G>A)
n.2264G>A
c.1591G>A (p.Gly531Ser)
n.2187G>A
 ClinVar dbSNP
22g.29681569G>CCA411150424NF2c.1570G>C (p.Gly524Arg)
c.*1199G>C (n.*1199G>C)
c.1705G>C (p.Gly569Arg)
c.1123G>C (p.Gly375Arg)
c.*1587G>C (n.*1587G>C)
c.1724G>C (n.1724G>C)
c.1456G>C (p.Gly486Arg)
c.1582G>C (p.Gly528Arg)
c.1579G>C (p.Gly527Arg)
c.1618G>C (p.Gly540Arg)
c.448-13183G>C (n.448-13183G>C)
c.*93+3246G>C (n.*93+3246G>C)
n.2264G>C
c.1591G>C (p.Gly531Arg)
n.2187G>C
22g.29681569G>TCA411150425NF2c.1570G>T (p.Gly524Cys)
c.*1199G>T (n.*1199G>T)
c.1705G>T (p.Gly569Cys)
c.1123G>T (p.Gly375Cys)
c.*1587G>T (n.*1587G>T)
c.1724G>T (n.1724G>T)
c.1456G>T (p.Gly486Cys)
c.1582G>T (p.Gly528Cys)
c.1579G>T (p.Gly527Cys)
c.1618G>T (p.Gly540Cys)
c.448-13183G>T (n.448-13183G>T)
c.*93+3246G>T (n.*93+3246G>T)
n.2264G>T
c.1591G>T (p.Gly531Cys)
n.2187G>T
22g.29681570G>ACA032703NF2c.1571G>A (p.Gly524Asp)
c.*1200G>A (n.*1200G>A)
c.1706G>A (p.Gly569Asp)
c.1124G>A (p.Gly375Asp)
c.*1588G>A (n.*1588G>A)
c.1725G>A (n.1725G>A)
c.1457G>A (p.Gly486Asp)
c.1583G>A (p.Gly528Asp)
c.1580G>A (p.Gly527Asp)
c.1619G>A (p.Gly540Asp)
c.448-13182G>A (n.448-13182G>A)
c.*93+3247G>A (n.*93+3247G>A)
n.2265G>A
c.1592G>A (p.Gly531Asp)
n.2188G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.29681570G>CCA411150428NF2c.1571G>C (p.Gly524Ala)
c.*1200G>C (n.*1200G>C)
c.1706G>C (p.Gly569Ala)
c.1124G>C (p.Gly375Ala)
c.*1588G>C (n.*1588G>C)
c.1725G>C (n.1725G>C)
c.1457G>C (p.Gly486Ala)
c.1583G>C (p.Gly528Ala)
c.1580G>C (p.Gly527Ala)
c.1619G>C (p.Gly540Ala)
c.448-13182G>C (n.448-13182G>C)
c.*93+3247G>C (n.*93+3247G>C)
n.2265G>C
c.1592G>C (p.Gly531Ala)
n.2188G>C
22g.29681570G=CA2400686850NF2c.1571G= (p.Gly524=)
c.*1200G= (n.*1200G=)
c.1706G= (p.Gly569=)
c.1124G= (p.Gly375=)
c.*1588G= (n.*1588G=)
c.1725G= (n.1725G=)
c.1457G= (p.Gly486=)
c.1583G= (p.Gly528=)
c.1580G= (p.Gly527=)
c.1619G= (p.Gly540=)
c.448-13182G= (n.448-13182G=)
c.*93+3247G= (n.*93+3247G=)
n.2265G=
c.1592G= (p.Gly531=)
n.2188G=
22g.29681570G>TCA411150430NF2c.1571G>T (p.Gly524Val)
c.*1200G>T (n.*1200G>T)
c.1706G>T (p.Gly569Val)
c.1124G>T (p.Gly375Val)
c.*1588G>T (n.*1588G>T)
c.1725G>T (n.1725G>T)
c.1457G>T (p.Gly486Val)
c.1583G>T (p.Gly528Val)
c.1580G>T (p.Gly527Val)
c.1619G>T (p.Gly540Val)
c.448-13182G>T (n.448-13182G>T)
c.*93+3247G>T (n.*93+3247G>T)
n.2265G>T
c.1592G>T (p.Gly531Val)
n.2188G>T
 ClinVar dbSNP
22g.29681571T>ACA514190643NF2c.1572T>A (p.Gly524=)
c.*1201T>A (n.*1201T>A)
c.1707T>A (p.Gly569=)
c.1125T>A (p.Gly375=)
c.*1589T>A (n.*1589T>A)
c.1726T>A (n.1726T>A)
c.1458T>A (p.Gly486=)
c.1584T>A (p.Gly528=)
c.1581T>A (p.Gly527=)
c.1620T>A (p.Gly540=)
c.448-13181T>A (n.448-13181T>A)
c.*93+3248T>A (n.*93+3248T>A)
n.2266T>A
c.1593T>A (p.Gly531=)
n.2189T>A
22g.29681571T>CCA514190644NF2c.1572T>C (p.Gly524=)
c.*1201T>C (n.*1201T>C)
c.1707T>C (p.Gly569=)
c.1125T>C (p.Gly375=)
c.*1589T>C (n.*1589T>C)
c.1726T>C (n.1726T>C)
c.1458T>C (p.Gly486=)
c.1584T>C (p.Gly528=)
c.1581T>C (p.Gly527=)
c.1620T>C (p.Gly540=)
c.448-13181T>C (n.448-13181T>C)
c.*93+3248T>C (n.*93+3248T>C)
n.2266T>C
c.1593T>C (p.Gly531=)
n.2189T>C
 ClinVar
22g.29681571T>GCA514190645NF2c.1572T>G (p.Gly524=)
c.*1201T>G (n.*1201T>G)
c.1707T>G (p.Gly569=)
c.1125T>G (p.Gly375=)
c.*1589T>G (n.*1589T>G)
c.1726T>G (n.1726T>G)
c.1458T>G (p.Gly486=)
c.1584T>G (p.Gly528=)
c.1581T>G (p.Gly527=)
c.1620T>G (p.Gly540=)
c.448-13181T>G (n.448-13181T>G)
c.*93+3248T>G (n.*93+3248T>G)
n.2266T>G
c.1593T>G (p.Gly531=)
n.2189T>G
22g.29681572G>ACA411150432NF2c.1573G>A (p.Gly525Ser)
c.*1202G>A (n.*1202G>A)
c.1708G>A (p.Gly570Ser)
c.1126G>A (p.Gly376Ser)
c.*1590G>A (n.*1590G>A)
c.1727G>A (n.1727G>A)
c.1459G>A (p.Gly487Ser)
c.1585G>A (p.Gly529Ser)
c.1582G>A (p.Gly528Ser)
c.1621G>A (p.Gly541Ser)
c.448-13180G>A (n.448-13180G>A)
c.*93+3249G>A (n.*93+3249G>A)
n.2267G>A
c.1594G>A (p.Gly532Ser)
n.2190G>A
 ClinVar dbSNP
22g.29681572G>CCA411150436NF2c.1573G>C (p.Gly525Arg)
c.*1202G>C (n.*1202G>C)
c.1708G>C (p.Gly570Arg)
c.1126G>C (p.Gly376Arg)
c.*1590G>C (n.*1590G>C)
c.1727G>C (n.1727G>C)
c.1459G>C (p.Gly487Arg)
c.1585G>C (p.Gly529Arg)
c.1582G>C (p.Gly528Arg)
c.1621G>C (p.Gly541Arg)
c.448-13180G>C (n.448-13180G>C)
c.*93+3249G>C (n.*93+3249G>C)
n.2267G>C
c.1594G>C (p.Gly532Arg)
n.2190G>C
22g.29681572G>TCA411150434NF2c.1573G>T (p.Gly525Cys)
c.*1202G>T (n.*1202G>T)
c.1708G>T (p.Gly570Cys)
c.1126G>T (p.Gly376Cys)
c.*1590G>T (n.*1590G>T)
c.1727G>T (n.1727G>T)
c.1459G>T (p.Gly487Cys)
c.1585G>T (p.Gly529Cys)
c.1582G>T (p.Gly528Cys)
c.1621G>T (p.Gly541Cys)
c.448-13180G>T (n.448-13180G>T)
c.*93+3249G>T (n.*93+3249G>T)
n.2267G>T
c.1594G>T (p.Gly532Cys)
n.2190G>T
22g.29681573G>ACA411150438NF2c.1574G>A (p.Gly525Asp)
c.*1203G>A (n.*1203G>A)
c.1709G>A (p.Gly570Asp)
c.1127G>A (p.Gly376Asp)
c.*1591G>A (n.*1591G>A)
c.1728G>A (n.1728G>A)
c.1460G>A (p.Gly487Asp)
c.1586G>A (p.Gly529Asp)
c.1583G>A (p.Gly528Asp)
c.1622G>A (p.Gly541Asp)
c.448-13179G>A (n.448-13179G>A)
c.*93+3250G>A (n.*93+3250G>A)
n.2268G>A
c.1595G>A (p.Gly532Asp)
n.2191G>A
 dbSNP
22g.29681573G>CCA411150442NF2c.1574G>C (p.Gly525Ala)
c.*1203G>C (n.*1203G>C)
c.1709G>C (p.Gly570Ala)
c.1127G>C (p.Gly376Ala)
c.*1591G>C (n.*1591G>C)
c.1728G>C (n.1728G>C)
c.1460G>C (p.Gly487Ala)
c.1586G>C (p.Gly529Ala)
c.1583G>C (p.Gly528Ala)
c.1622G>C (p.Gly541Ala)
c.448-13179G>C (n.448-13179G>C)
c.*93+3250G>C (n.*93+3250G>C)
n.2268G>C
c.1595G>C (p.Gly532Ala)
n.2191G>C
22g.29681573G>TCA411150440NF2c.1574G>T (p.Gly525Val)
c.*1203G>T (n.*1203G>T)
c.1709G>T (p.Gly570Val)
c.1127G>T (p.Gly376Val)
c.*1591G>T (n.*1591G>T)
c.1728G>T (n.1728G>T)
c.1460G>T (p.Gly487Val)
c.1586G>T (p.Gly529Val)
c.1583G>T (p.Gly528Val)
c.1622G>T (p.Gly541Val)
c.448-13179G>T (n.448-13179G>T)
c.*93+3250G>T (n.*93+3250G>T)
n.2268G>T
c.1595G>T (p.Gly532Val)
n.2191G>T
22g.29681574C>ACA514190646NF2c.1575C>A (p.Gly525=)
c.*1204C>A (n.*1204C>A)
c.1710C>A (p.Gly570=)
c.1128C>A (p.Gly376=)
c.*1592C>A (n.*1592C>A)
c.1729C>A (n.1729C>A)
c.1461C>A (p.Gly487=)
c.1587C>A (p.Gly529=)
c.1584C>A (p.Gly528=)
c.1623C>A (p.Gly541=)
c.448-13178C>A (n.448-13178C>A)
c.*93+3251C>A (n.*93+3251C>A)
n.2269C>A
c.1596C>A (p.Gly532=)
n.2192C>A
22g.29681574C>GCA514190647NF2c.1575C>G (p.Gly525=)
c.*1204C>G (n.*1204C>G)
c.1710C>G (p.Gly570=)
c.1128C>G (p.Gly376=)
c.*1592C>G (n.*1592C>G)
c.1729C>G (n.1729C>G)
c.1461C>G (p.Gly487=)
c.1587C>G (p.Gly529=)
c.1584C>G (p.Gly528=)
c.1623C>G (p.Gly541=)
c.448-13178C>G (n.448-13178C>G)
c.*93+3251C>G (n.*93+3251C>G)
n.2269C>G
c.1596C>G (p.Gly532=)
n.2192C>G
 dbSNP
22g.29681574C>TCA514190648NF2c.1575C>T (p.Gly525=)
c.*1204C>T (n.*1204C>T)
c.1710C>T (p.Gly570=)
c.1128C>T (p.Gly376=)
c.*1592C>T (n.*1592C>T)
c.1729C>T (n.1729C>T)
c.1461C>T (p.Gly487=)
c.1587C>T (p.Gly529=)
c.1584C>T (p.Gly528=)
c.1623C>T (p.Gly541=)
c.448-13178C>T (n.448-13178C>T)
c.*93+3251C>T (n.*93+3251C>T)
n.2269C>T
c.1596C>T (p.Gly532=)
n.2192C>T
 dbSNP gnomAD v4
22g.29681575A=CA2400686851NF2c.1576A= (p.Ser526=)
c.*1205A= (n.*1205A=)
c.1711A= (p.Ser571=)
c.1129A= (p.Ser377=)
c.*1593A= (n.*1593A=)
c.1730A= (n.1730A=)
c.1462A= (p.Ser488=)
c.1588A= (p.Ser530=)
c.1585A= (p.Ser529=)
c.1624A= (p.Ser542=)
c.448-13177A= (n.448-13177A=)
c.*93+3252A= (n.*93+3252A=)
n.2270A=
c.1597A= (p.Ser533=)
n.2193A=
22g.29681575A>CCA411150444NF2c.1576A>C (p.Ser526Arg)
c.*1205A>C (n.*1205A>C)
c.1711A>C (p.Ser571Arg)
c.1129A>C (p.Ser377Arg)
c.*1593A>C (n.*1593A>C)
c.1730A>C (n.1730A>C)
c.1462A>C (p.Ser488Arg)
c.1588A>C (p.Ser530Arg)
c.1585A>C (p.Ser529Arg)
c.1624A>C (p.Ser542Arg)
c.448-13177A>C (n.448-13177A>C)
c.*93+3252A>C (n.*93+3252A>C)
n.2270A>C
c.1597A>C (p.Ser533Arg)
n.2193A>C
22g.29681575A>GCA411150447NF2c.1576A>G (p.Ser526Gly)
c.*1205A>G (n.*1205A>G)
c.1711A>G (p.Ser571Gly)
c.1129A>G (p.Ser377Gly)
c.*1593A>G (n.*1593A>G)
c.1730A>G (n.1730A>G)
c.1462A>G (p.Ser488Gly)
c.1588A>G (p.Ser530Gly)
c.1585A>G (p.Ser529Gly)
c.1624A>G (p.Ser542Gly)
c.448-13177A>G (n.448-13177A>G)
c.*93+3252A>G (n.*93+3252A>G)
n.2270A>G
c.1597A>G (p.Ser533Gly)
n.2193A>G
 ClinVar dbSNP
22g.29681575A>TCA411150448NF2c.1576A>T (p.Ser526Cys)
c.*1205A>T (n.*1205A>T)
c.1711A>T (p.Ser571Cys)
c.1129A>T (p.Ser377Cys)
c.*1593A>T (n.*1593A>T)
c.1730A>T (n.1730A>T)
c.1462A>T (p.Ser488Cys)
c.1588A>T (p.Ser530Cys)
c.1585A>T (p.Ser529Cys)
c.1624A>T (p.Ser542Cys)
c.448-13177A>T (n.448-13177A>T)
c.*93+3252A>T (n.*93+3252A>T)
n.2270A>T
c.1597A>T (p.Ser533Cys)
n.2193A>T
22g.29681576G>ACA411150451NF2c.1577G>A (p.Ser526Asn)
c.*1206G>A (n.*1206G>A)
c.1712G>A (p.Ser571Asn)
c.1130G>A (p.Ser377Asn)
c.*1594G>A (n.*1594G>A)
c.1731G>A (n.1731G>A)
c.1463G>A (p.Ser488Asn)
c.1589G>A (p.Ser530Asn)
c.1586G>A (p.Ser529Asn)
c.1625G>A (p.Ser542Asn)
c.448-13176G>A (n.448-13176G>A)
c.*93+3253G>A (n.*93+3253G>A)
n.2271G>A
c.1598G>A (p.Ser533Asn)
n.2194G>A
 ClinVar dbSNP
22g.29681576G>CCA411150453NF2c.1577G>C (p.Ser526Thr)
c.*1206G>C (n.*1206G>C)
c.1712G>C (p.Ser571Thr)
c.1130G>C (p.Ser377Thr)
c.*1594G>C (n.*1594G>C)
c.1731G>C (n.1731G>C)
c.1463G>C (p.Ser488Thr)
c.1589G>C (p.Ser530Thr)
c.1586G>C (p.Ser529Thr)
c.1625G>C (p.Ser542Thr)
c.448-13176G>C (n.448-13176G>C)
c.*93+3253G>C (n.*93+3253G>C)
n.2271G>C
c.1598G>C (p.Ser533Thr)
n.2194G>C
22g.29681576G=CA2400686852NF2c.1577G= (p.Ser526=)
c.*1206G= (n.*1206G=)
c.1712G= (p.Ser571=)
c.1130G= (p.Ser377=)
c.*1594G= (n.*1594G=)
c.1731G= (n.1731G=)
c.1463G= (p.Ser488=)
c.1589G= (p.Ser530=)
c.1586G= (p.Ser529=)
c.1625G= (p.Ser542=)
c.448-13176G= (n.448-13176G=)
c.*93+3253G= (n.*93+3253G=)
n.2271G=
c.1598G= (p.Ser533=)
n.2194G=
22g.29681576G>TCA411150455NF2c.1577G>T (p.Ser526Ile)
c.*1206G>T (n.*1206G>T)
c.1712G>T (p.Ser571Ile)
c.1130G>T (p.Ser377Ile)
c.*1594G>T (n.*1594G>T)
c.1731G>T (n.1731G>T)
c.1463G>T (p.Ser488Ile)
c.1589G>T (p.Ser530Ile)
c.1586G>T (p.Ser529Ile)
c.1625G>T (p.Ser542Ile)
c.448-13176G>T (n.448-13176G>T)
c.*93+3253G>T (n.*93+3253G>T)
n.2271G>T
c.1598G>T (p.Ser533Ile)
n.2194G>T
22g.29681577C>ACA411150457NF2c.1578C>A (p.Ser526Arg)
c.*1207C>A (n.*1207C>A)
c.1713C>A (p.Ser571Arg)
c.1131C>A (p.Ser377Arg)
c.*1595C>A (n.*1595C>A)
c.1732C>A (n.1732C>A)
c.1464C>A (p.Ser488Arg)
c.1590C>A (p.Ser530Arg)
c.1587C>A (p.Ser529Arg)
c.1626C>A (p.Ser542Arg)
c.448-13175C>A (n.448-13175C>A)
c.*93+3254C>A (n.*93+3254C>A)
n.2272C>A
c.1599C>A (p.Ser533Arg)
n.2195C>A
22g.29681577C=CA2400686853NF2c.1578C= (p.Ser526=)
c.*1207C= (n.*1207C=)
c.1713C= (p.Ser571=)
c.1131C= (p.Ser377=)
c.*1595C= (n.*1595C=)
c.1732C= (n.1732C=)
c.1464C= (p.Ser488=)
c.1590C= (p.Ser530=)
c.1587C= (p.Ser529=)
c.1626C= (p.Ser542=)
c.448-13175C= (n.448-13175C=)
c.*93+3254C= (n.*93+3254C=)
n.2272C=
c.1599C= (p.Ser533=)
n.2195C=
22g.29681577C>GCA411150458NF2c.1578C>G (p.Ser526Arg)
c.*1207C>G (n.*1207C>G)
c.1713C>G (p.Ser571Arg)
c.1131C>G (p.Ser377Arg)
c.*1595C>G (n.*1595C>G)
c.1732C>G (n.1732C>G)
c.1464C>G (p.Ser488Arg)
c.1590C>G (p.Ser530Arg)
c.1587C>G (p.Ser529Arg)
c.1626C>G (p.Ser542Arg)
c.448-13175C>G (n.448-13175C>G)
c.*93+3254C>G (n.*93+3254C>G)
n.2272C>G
c.1599C>G (p.Ser533Arg)
n.2195C>G
 dbSNP gnomAD v2 gnomAD v4
22g.29681577C>TCA514190649NF2c.1578C>T (p.Ser526=)
c.*1207C>T (n.*1207C>T)
c.1713C>T (p.Ser571=)
c.1131C>T (p.Ser377=)
c.*1595C>T (n.*1595C>T)
c.1732C>T (n.1732C>T)
c.1464C>T (p.Ser488=)
c.1590C>T (p.Ser530=)
c.1587C>T (p.Ser529=)
c.1626C>T (p.Ser542=)
c.448-13175C>T (n.448-13175C>T)
c.*93+3254C>T (n.*93+3254C>T)
n.2272C>T
c.1599C>T (p.Ser533=)
n.2195C>T
 ClinVar dbSNP
22g.29681578A=CA2400686854NF2c.1579A= (p.Ser527=)
c.*1208A= (n.*1208A=)
c.1714A= (p.Ser572=)
c.1132A= (p.Ser378=)
c.*1596A= (n.*1596A=)
c.1733A= (n.1733A=)
c.1465A= (p.Ser489=)
c.1591A= (p.Ser531=)
c.1588A= (p.Ser530=)
c.1627A= (p.Ser543=)
c.448-13174A= (n.448-13174A=)
c.*93+3255A= (n.*93+3255A=)
n.2273A=
c.1600A= (p.Ser534=)
n.2196A=
22g.29681578A>CCA411150460NF2c.1579A>C (p.Ser527Arg)
c.*1208A>C (n.*1208A>C)
c.1714A>C (p.Ser572Arg)
c.1132A>C (p.Ser378Arg)
c.*1596A>C (n.*1596A>C)
c.1733A>C (n.1733A>C)
c.1465A>C (p.Ser489Arg)
c.1591A>C (p.Ser531Arg)
c.1588A>C (p.Ser530Arg)
c.1627A>C (p.Ser543Arg)
c.448-13174A>C (n.448-13174A>C)
c.*93+3255A>C (n.*93+3255A>C)
n.2273A>C
c.1600A>C (p.Ser534Arg)
n.2196A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.29681578A>GCA411150463NF2c.1579A>G (p.Ser527Gly)
c.*1208A>G (n.*1208A>G)
c.1714A>G (p.Ser572Gly)
c.1132A>G (p.Ser378Gly)
c.*1596A>G (n.*1596A>G)
c.1733A>G (n.1733A>G)
c.1465A>G (p.Ser489Gly)
c.1591A>G (p.Ser531Gly)
c.1588A>G (p.Ser530Gly)
c.1627A>G (p.Ser543Gly)
c.448-13174A>G (n.448-13174A>G)
c.*93+3255A>G (n.*93+3255A>G)
n.2273A>G
c.1600A>G (p.Ser534Gly)
n.2196A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.29681578A>TCA411150465NF2c.1579A>T (p.Ser527Cys)
c.*1208A>T (n.*1208A>T)
c.1714A>T (p.Ser572Cys)
c.1132A>T (p.Ser378Cys)
c.*1596A>T (n.*1596A>T)
c.1733A>T (n.1733A>T)
c.1465A>T (p.Ser489Cys)
c.1591A>T (p.Ser531Cys)
c.1588A>T (p.Ser530Cys)
c.1627A>T (p.Ser543Cys)
c.448-13174A>T (n.448-13174A>T)
c.*93+3255A>T (n.*93+3255A>T)
n.2273A>T
c.1600A>T (p.Ser534Cys)
n.2196A>T
22g.29681579G>ACA411150470NF2c.1580G>A (p.Ser527Asn)
c.*1209G>A (n.*1209G>A)
c.1715G>A (p.Ser572Asn)
c.1133G>A (p.Ser378Asn)
c.*1597G>A (n.*1597G>A)
c.1734G>A (n.1734G>A)
c.1466G>A (p.Ser489Asn)
c.1592G>A (p.Ser531Asn)
c.1589G>A (p.Ser530Asn)
c.1628G>A (p.Ser543Asn)
c.448-13173G>A (n.448-13173G>A)
c.*93+3256G>A (n.*93+3256G>A)
n.2274G>A
c.1601G>A (p.Ser534Asn)
n.2197G>A
 dbSNP
22g.29681579G>CCA411150466NF2c.1580G>C (p.Ser527Thr)
c.*1209G>C (n.*1209G>C)
c.1715G>C (p.Ser572Thr)
c.1133G>C (p.Ser378Thr)
c.*1597G>C (n.*1597G>C)
c.1734G>C (n.1734G>C)
c.1466G>C (p.Ser489Thr)
c.1592G>C (p.Ser531Thr)
c.1589G>C (p.Ser530Thr)
c.1628G>C (p.Ser543Thr)
c.448-13173G>C (n.448-13173G>C)
c.*93+3256G>C (n.*93+3256G>C)
n.2274G>C
c.1601G>C (p.Ser534Thr)
n.2197G>C
22g.29681579G>TCA411150468NF2c.1580G>T (p.Ser527Ile)
c.*1209G>T (n.*1209G>T)
c.1715G>T (p.Ser572Ile)
c.1133G>T (p.Ser378Ile)
c.*1597G>T (n.*1597G>T)
c.1734G>T (n.1734G>T)
c.1466G>T (p.Ser489Ile)
c.1592G>T (p.Ser531Ile)
c.1589G>T (p.Ser530Ile)
c.1628G>T (p.Ser543Ile)
c.448-13173G>T (n.448-13173G>T)
c.*93+3256G>T (n.*93+3256G>T)
n.2274G>T
c.1601G>T (p.Ser534Ile)
n.2197G>T
22g.29681580C>ACA411150472NF2c.1581C>A (p.Ser527Arg)
c.*1210C>A (n.*1210C>A)
c.1716C>A (p.Ser572Arg)
c.1134C>A (p.Ser378Arg)
c.*1598C>A (n.*1598C>A)
c.1735C>A (n.1735C>A)
c.1467C>A (p.Ser489Arg)
c.1593C>A (p.Ser531Arg)
c.1590C>A (p.Ser530Arg)
c.1629C>A (p.Ser543Arg)
c.448-13172C>A (n.448-13172C>A)
c.*93+3257C>A (n.*93+3257C>A)
n.2275C>A
c.1602C>A (p.Ser534Arg)
n.2198C>A
22g.29681580C>GCA411150474NF2c.1581C>G (p.Ser527Arg)
c.*1210C>G (n.*1210C>G)
c.1716C>G (p.Ser572Arg)
c.1134C>G (p.Ser378Arg)
c.*1598C>G (n.*1598C>G)
c.1735C>G (n.1735C>G)
c.1467C>G (p.Ser489Arg)
c.1593C>G (p.Ser531Arg)
c.1590C>G (p.Ser530Arg)
c.1629C>G (p.Ser543Arg)
c.448-13172C>G (n.448-13172C>G)
c.*93+3257C>G (n.*93+3257C>G)
n.2275C>G
c.1602C>G (p.Ser534Arg)
n.2198C>G
22g.29681580C>TCA514190650NF2c.1581C>T (p.Ser527=)
c.*1210C>T (n.*1210C>T)
c.1716C>T (p.Ser572=)
c.1134C>T (p.Ser378=)
c.*1598C>T (n.*1598C>T)
c.1735C>T (n.1735C>T)
c.1467C>T (p.Ser489=)
c.1593C>T (p.Ser531=)
c.1590C>T (p.Ser530=)
c.1629C>T (p.Ser543=)
c.448-13172C>T (n.448-13172C>T)
c.*93+3257C>T (n.*93+3257C>T)
n.2275C>T
c.1602C>T (p.Ser534=)
n.2198C>T
 gnomAD v4
22g.29681581A>CCA411150476NF2c.1582A>C (p.Lys528Gln)
c.*1211A>C (n.*1211A>C)
c.1717A>C (p.Lys573Gln)
c.1135A>C (p.Lys379Gln)
c.*1599A>C (n.*1599A>C)
c.1736A>C (n.1736A>C)
c.1468A>C (p.Lys490Gln)
c.1594A>C (p.Lys532Gln)
c.1591A>C (p.Lys531Gln)
c.1630A>C (p.Lys544Gln)
c.448-13171A>C (n.448-13171A>C)
c.*93+3258A>C (n.*93+3258A>C)
n.2276A>C
c.1603A>C (p.Lys535Gln)
n.2199A>C
22g.29681581A>GCA411150478NF2c.1582A>G (p.Lys528Glu)
c.*1211A>G (n.*1211A>G)
c.1717A>G (p.Lys573Glu)
c.1135A>G (p.Lys379Glu)
c.*1599A>G (n.*1599A>G)
c.1736A>G (n.1736A>G)
c.1468A>G (p.Lys490Glu)
c.1594A>G (p.Lys532Glu)
c.1591A>G (p.Lys531Glu)
c.1630A>G (p.Lys544Glu)
c.448-13171A>G (n.448-13171A>G)
c.*93+3258A>G (n.*93+3258A>G)
n.2276A>G
c.1603A>G (p.Lys535Glu)
n.2199A>G
22g.29681581A>TCA411150480NF2c.1582A>T (p.Lys528Ter)
c.*1211A>T (n.*1211A>T)
c.1717A>T (p.Lys573Ter)
c.1135A>T (p.Lys379Ter)
c.*1599A>T (n.*1599A>T)
c.1736A>T (n.1736A>T)
c.1468A>T (p.Lys490Ter)
c.1594A>T (p.Lys532Ter)
c.1591A>T (p.Lys531Ter)
c.1630A>T (p.Lys544Ter)
c.448-13171A>T (n.448-13171A>T)
c.*93+3258A>T (n.*93+3258A>T)
n.2276A>T
c.1603A>T (p.Lys535Ter)
n.2199A>T
22g.29681582A=CA2400686855NF2c.1583A= (p.Lys528=)
c.*1212A= (n.*1212A=)
c.1718A= (p.Lys573=)
c.1136A= (p.Lys379=)
c.*1600A= (n.*1600A=)
c.1737A= (n.1737A=)
c.1469A= (p.Lys490=)
c.1595A= (p.Lys532=)
c.1592A= (p.Lys531=)
c.1631A= (p.Lys544=)
c.448-13170A= (n.448-13170A=)
c.*93+3259A= (n.*93+3259A=)
n.2277A=
c.1604A= (p.Lys535=)
n.2200A=
22g.29681582A>CCA411150482NF2c.1583A>C (p.Lys528Thr)
c.*1212A>C (n.*1212A>C)
c.1718A>C (p.Lys573Thr)
c.1136A>C (p.Lys379Thr)
c.*1600A>C (n.*1600A>C)
c.1737A>C (n.1737A>C)
c.1469A>C (p.Lys490Thr)
c.1595A>C (p.Lys532Thr)
c.1592A>C (p.Lys531Thr)
c.1631A>C (p.Lys544Thr)
c.448-13170A>C (n.448-13170A>C)
c.*93+3259A>C (n.*93+3259A>C)
n.2277A>C
c.1604A>C (p.Lys535Thr)
n.2200A>C
 dbSNP gnomAD v2 gnomAD v4
22g.29681582A>GCA411150484NF2c.1583A>G (p.Lys528Arg)
c.*1212A>G (n.*1212A>G)
c.1718A>G (p.Lys573Arg)
c.1136A>G (p.Lys379Arg)
c.*1600A>G (n.*1600A>G)
c.1737A>G (n.1737A>G)
c.1469A>G (p.Lys490Arg)
c.1595A>G (p.Lys532Arg)
c.1592A>G (p.Lys531Arg)
c.1631A>G (p.Lys544Arg)
c.448-13170A>G (n.448-13170A>G)
c.*93+3259A>G (n.*93+3259A>G)
n.2277A>G
c.1604A>G (p.Lys535Arg)
n.2200A>G
 ClinVar
22g.29681582A>TCA411150487NF2c.1583A>T (p.Lys528Met)
c.*1212A>T (n.*1212A>T)
c.1718A>T (p.Lys573Met)
c.1136A>T (p.Lys379Met)
c.*1600A>T (n.*1600A>T)
c.1737A>T (n.1737A>T)
c.1469A>T (p.Lys490Met)
c.1595A>T (p.Lys532Met)
c.1592A>T (p.Lys531Met)
c.1631A>T (p.Lys544Met)
c.448-13170A>T (n.448-13170A>T)
c.*93+3259A>T (n.*93+3259A>T)
n.2277A>T
c.1604A>T (p.Lys535Met)
n.2200A>T
22g.29681583G>ACA514190651NF2c.1584G>A (p.Lys528=)
c.*1213G>A (n.*1213G>A)
c.1719G>A (p.Lys573=)
c.1137G>A (p.Lys379=)
c.*1601G>A (n.*1601G>A)
c.1738G>A (n.1738G>A)
c.1470G>A (p.Lys490=)
c.1596G>A (p.Lys532=)
c.1593G>A (p.Lys531=)
c.1632G>A (p.Lys544=)
c.448-13169G>A (n.448-13169G>A)
c.*93+3260G>A (n.*93+3260G>A)
n.2278G>A
c.1605G>A (p.Lys535=)
n.2201G>A
 dbSNP
22g.29681583G>CCA411150489NF2c.1584G>C (p.Lys528Asn)
c.*1213G>C (n.*1213G>C)
c.1719G>C (p.Lys573Asn)
c.1137G>C (p.Lys379Asn)
c.*1601G>C (n.*1601G>C)
c.1738G>C (n.1738G>C)
c.1470G>C (p.Lys490Asn)
c.1596G>C (p.Lys532Asn)
c.1593G>C (p.Lys531Asn)
c.1632G>C (p.Lys544Asn)
c.448-13169G>C (n.448-13169G>C)
c.*93+3260G>C (n.*93+3260G>C)
n.2278G>C
c.1605G>C (p.Lys535Asn)
n.2201G>C
22g.29681583G>TCA411150491NF2c.1584G>T (p.Lys528Asn)
c.*1213G>T (n.*1213G>T)
c.1719G>T (p.Lys573Asn)
c.1137G>T (p.Lys379Asn)
c.*1601G>T (n.*1601G>T)
c.1738G>T (n.1738G>T)
c.1470G>T (p.Lys490Asn)
c.1596G>T (p.Lys532Asn)
c.1593G>T (p.Lys531Asn)
c.1632G>T (p.Lys544Asn)
c.448-13169G>T (n.448-13169G>T)
c.*93+3260G>T (n.*93+3260G>T)
n.2278G>T
c.1605G>T (p.Lys535Asn)
n.2201G>T
22g.29681584C>ACA323121029NF2c.1585C>A (p.His529Asn)
c.*1214C>A (n.*1214C>A)
c.1720C>A (p.His574Asn)
c.1138C>A (p.His380Asn)
c.*1602C>A (n.*1602C>A)
c.1739C>A (n.1739C>A)
c.1471C>A (p.His491Asn)
c.1597C>A (p.His533Asn)
c.1594C>A (p.His532Asn)
c.1633C>A (p.His545Asn)
c.448-13168C>A (n.448-13168C>A)
c.*93+3261C>A (n.*93+3261C>A)
n.2279C>A
c.1606C>A (p.His536Asn)
n.2202C>A
 ClinVar dbSNP gnomAD v4
22g.29681584C=CA2400686856NF2c.1585C= (p.His529=)
c.*1214C= (n.*1214C=)
c.1720C= (p.His574=)
c.1138C= (p.His380=)
c.*1602C= (n.*1602C=)
c.1739C= (n.1739C=)
c.1471C= (p.His491=)
c.1597C= (p.His533=)
c.1594C= (p.His532=)
c.1633C= (p.His545=)
c.448-13168C= (n.448-13168C=)
c.*93+3261C= (n.*93+3261C=)
n.2279C=
c.1606C= (p.His536=)
n.2202C=
22g.29681584C>GCA411150496NF2c.1585C>G (p.His529Asp)
c.*1214C>G (n.*1214C>G)
c.1720C>G (p.His574Asp)
c.1138C>G (p.His380Asp)
c.*1602C>G (n.*1602C>G)
c.1739C>G (n.1739C>G)
c.1471C>G (p.His491Asp)
c.1597C>G (p.His533Asp)
c.1594C>G (p.His532Asp)
c.1633C>G (p.His545Asp)
c.448-13168C>G (n.448-13168C>G)
c.*93+3261C>G (n.*93+3261C>G)
n.2279C>G
c.1606C>G (p.His536Asp)
n.2202C>G
22g.29681584C>TCA411150493NF2c.1585C>T (p.His529Tyr)
c.*1214C>T (n.*1214C>T)
c.1720C>T (p.His574Tyr)
c.1138C>T (p.His380Tyr)
c.*1602C>T (n.*1602C>T)
c.1739C>T (n.1739C>T)
c.1471C>T (p.His491Tyr)
c.1597C>T (p.His533Tyr)
c.1594C>T (p.His532Tyr)
c.1633C>T (p.His545Tyr)
c.448-13168C>T (n.448-13168C>T)
c.*93+3261C>T (n.*93+3261C>T)
n.2279C>T
c.1606C>T (p.His536Tyr)
n.2202C>T
 ClinVar dbSNP
22g.29681585A=CA2400686857NF2c.1586A= (p.His529=)
c.*1215A= (n.*1215A=)
c.1721A= (p.His574=)
c.1139A= (p.His380=)
c.*1603A= (n.*1603A=)
c.1740A= (n.1740A=)
c.1472A= (p.His491=)
c.1598A= (p.His533=)
c.1595A= (p.His532=)
c.1634A= (p.His545=)
c.448-13167A= (n.448-13167A=)
c.*93+3262A= (n.*93+3262A=)
n.2280A=
c.1607A= (p.His536=)
n.2203A=
22g.29681585A>CCA411150498NF2c.1586A>C (p.His529Pro)
c.*1215A>C (n.*1215A>C)
c.1721A>C (p.His574Pro)
c.1139A>C (p.His380Pro)
c.*1603A>C (n.*1603A>C)
c.1740A>C (n.1740A>C)
c.1472A>C (p.His491Pro)
c.1598A>C (p.His533Pro)
c.1595A>C (p.His532Pro)
c.1634A>C (p.His545Pro)
c.448-13167A>C (n.448-13167A>C)
c.*93+3262A>C (n.*93+3262A>C)
n.2280A>C
c.1607A>C (p.His536Pro)
n.2203A>C
 ClinVar dbSNP gnomAD v4
22g.29681585A>GCA411150500NF2c.1586A>G (p.His529Arg)
c.*1215A>G (n.*1215A>G)
c.1721A>G (p.His574Arg)
c.1139A>G (p.His380Arg)
c.*1603A>G (n.*1603A>G)
c.1740A>G (n.1740A>G)
c.1472A>G (p.His491Arg)
c.1598A>G (p.His533Arg)
c.1595A>G (p.His532Arg)
c.1634A>G (p.His545Arg)
c.448-13167A>G (n.448-13167A>G)
c.*93+3262A>G (n.*93+3262A>G)
n.2280A>G
c.1607A>G (p.His536Arg)
n.2203A>G
 ClinVar dbSNP gnomAD v4
22g.29681585A>TCA411150502NF2c.1586A>T (p.His529Leu)
c.*1215A>T (n.*1215A>T)
c.1721A>T (p.His574Leu)
c.1139A>T (p.His380Leu)
c.*1603A>T (n.*1603A>T)
c.1740A>T (n.1740A>T)
c.1472A>T (p.His491Leu)
c.1598A>T (p.His533Leu)
c.1595A>T (p.His532Leu)
c.1634A>T (p.His545Leu)
c.448-13167A>T (n.448-13167A>T)
c.*93+3262A>T (n.*93+3262A>T)
n.2280A>T
c.1607A>T (p.His536Leu)
n.2203A>T
22g.29681586C>ACA411150504NF2c.1587C>A (p.His529Gln)
c.*1216C>A (n.*1216C>A)
c.1722C>A (p.His574Gln)
c.1140C>A (p.His380Gln)
c.*1604C>A (n.*1604C>A)
c.1741C>A (n.1741C>A)
c.1473C>A (p.His491Gln)
c.1599C>A (p.His533Gln)
c.1596C>A (p.His532Gln)
c.1635C>A (p.His545Gln)
c.448-13166C>A (n.448-13166C>A)
c.*93+3263C>A (n.*93+3263C>A)
n.2281C>A
c.1608C>A (p.His536Gln)
n.2204C>A
22g.29681586C=CA2400686859NF2c.1587C= (p.His529=)
c.*1216C= (n.*1216C=)
c.1722C= (p.His574=)
c.1140C= (p.His380=)
c.*1604C= (n.*1604C=)
c.1741C= (n.1741C=)
c.1473C= (p.His491=)
c.1599C= (p.His533=)
c.1596C= (p.His532=)
c.1635C= (p.His545=)
c.448-13166C= (n.448-13166C=)
c.*93+3263C= (n.*93+3263C=)
n.2281C=
c.1608C= (p.His536=)
n.2204C=
22g.29681586C>GCA411150506NF2c.1587C>G (p.His529Gln)
c.*1216C>G (n.*1216C>G)
c.1722C>G (p.His574Gln)
c.1140C>G (p.His380Gln)
c.*1604C>G (n.*1604C>G)
c.1741C>G (n.1741C>G)
c.1473C>G (p.His491Gln)
c.1599C>G (p.His533Gln)
c.1596C>G (p.His532Gln)
c.1635C>G (p.His545Gln)
c.448-13166C>G (n.448-13166C>G)
c.*93+3263C>G (n.*93+3263C>G)
n.2281C>G
c.1608C>G (p.His536Gln)
n.2204C>G
 ClinVar
22g.29681586C>TCA323121034NF2c.1587C>T (p.His529=)
c.*1216C>T (n.*1216C>T)
c.1722C>T (p.His574=)
c.1140C>T (p.His380=)
c.*1604C>T (n.*1604C>T)
c.1741C>T (n.1741C>T)
c.1473C>T (p.His491=)
c.1599C>T (p.His533=)
c.1596C>T (p.His532=)
c.1635C>T (p.His545=)
c.448-13166C>T (n.448-13166C>T)
c.*93+3263C>T (n.*93+3263C>T)
n.2281C>T
c.1608C>T (p.His536=)
n.2204C>T
 ClinVar dbSNP gnomAD v2
22g.29681586_29681587delinsCACA2400686858NF2c.1587_1588delinsCA (p.His529=)
c.*1216_*1217delinsCA (n.*1216_*1217delinsCA)
c.1722_1723delinsCA (p.His574=)
c.1140_1141delinsCA (p.His380=)
c.*1604_*1605delinsCA (n.*1604_*1605delinsCA)
c.1741_1742delinsCA (n.1741_1742delinsCA)
c.1473_1474delinsCA (p.His491=)
c.1599_1600delinsCA (p.His533=)
c.1596_1597delinsCA (p.His532=)
c.1635_1636delinsCA (p.His545=)
c.448-13166_448-13165delinsCA (n.448-13166_448-13165delinsCA)
c.*93+3263_*93+3264delinsCA (n.*93+3263_*93+3264delinsCA)
n.2281_2282delinsCA
c.1608_1609delinsCA (p.His536=)
n.2204_2205delinsCA
22g.29681587A>CCA411150508NF2c.1588A>C (p.Asn530His)
c.*1217A>C (n.*1217A>C)
c.1723A>C (p.Asn575His)
c.1141A>C (p.Asn381His)
c.*1605A>C (n.*1605A>C)
c.1742A>C (n.1742A>C)
c.1474A>C (p.Asn492His)
c.1600A>C (p.Asn534His)
c.1597A>C (p.Asn533His)
c.1636A>C (p.Asn546His)
c.448-13165A>C (n.448-13165A>C)
c.*93+3264A>C (n.*93+3264A>C)
n.2282A>C
c.1609A>C (p.Asn537His)
n.2205A>C
22g.29681587A>GCA411150509NF2c.1588A>G (p.Asn530Asp)
c.*1217A>G (n.*1217A>G)
c.1723A>G (p.Asn575Asp)
c.1141A>G (p.Asn381Asp)
c.*1605A>G (n.*1605A>G)
c.1742A>G (n.1742A>G)
c.1474A>G (p.Asn492Asp)
c.1600A>G (p.Asn534Asp)
c.1597A>G (p.Asn533Asp)
c.1636A>G (p.Asn546Asp)
c.448-13165A>G (n.448-13165A>G)
c.*93+3264A>G (n.*93+3264A>G)
n.2282A>G
c.1609A>G (p.Asn537Asp)
n.2205A>G
 dbSNP gnomAD v4
22g.29681587A>TCA411150511NF2c.1588A>T (p.Asn530Tyr)
c.*1217A>T (n.*1217A>T)
c.1723A>T (p.Asn575Tyr)
c.1141A>T (p.Asn381Tyr)
c.*1605A>T (n.*1605A>T)
c.1742A>T (n.1742A>T)
c.1474A>T (p.Asn492Tyr)
c.1600A>T (p.Asn534Tyr)
c.1597A>T (p.Asn533Tyr)
c.1636A>T (p.Asn546Tyr)
c.448-13165A>T (n.448-13165A>T)
c.*93+3264A>T (n.*93+3264A>T)
n.2282A>T
c.1609A>T (p.Asn537Tyr)
n.2205A>T
22g.29681588delCA2400686860NF2c.1589del (p.Asn530IlefsTer24)
c.*1218del (n.*1218del)
c.1724del (p.Asn575IlefsTer24)
c.1142del (p.Asn381IlefsTer24)
c.1724del (p.Asn575IlefsTer?)
c.*1606del (n.*1606del)
c.1743del (n.1743del)
c.1475del (p.Asn492IlefsTer26)
c.1475del (p.Asn492IlefsTer?)
c.1601del (p.Asn534IlefsTer?)
c.1598del (p.Asn533IlefsTer?)
c.1724del (p.Asn575IlefsTer21)
c.1637del (p.Asn546IlefsTer26)
c.448-13164del (n.448-13164del)
c.*93+3265del (n.*93+3265del)
n.2283del
c.1610del (p.Asn537IlefsTer24)
c.1610del (p.Asn537IlefsTer?)
n.2206del
 dbSNP
22g.29681588A=CA2400686861NF2c.1589A= (p.Asn530=)
c.*1218A= (n.*1218A=)
c.1724A= (p.Asn575=)
c.1142A= (p.Asn381=)
c.*1606A= (n.*1606A=)
c.1743A= (n.1743A=)
c.1475A= (p.Asn492=)
c.1601A= (p.Asn534=)
c.1598A= (p.Asn533=)
c.1637A= (p.Asn546=)
c.448-13164A= (n.448-13164A=)
c.*93+3265A= (n.*93+3265A=)
n.2283A=
c.1610A= (p.Asn537=)
n.2206A=
22g.29681588A>CCA411150515NF2c.1589A>C (p.Asn530Thr)
c.*1218A>C (n.*1218A>C)
c.1724A>C (p.Asn575Thr)
c.1142A>C (p.Asn381Thr)
c.*1606A>C (n.*1606A>C)
c.1743A>C (n.1743A>C)
c.1475A>C (p.Asn492Thr)
c.1601A>C (p.Asn534Thr)
c.1598A>C (p.Asn533Thr)
c.1637A>C (p.Asn546Thr)
c.448-13164A>C (n.448-13164A>C)
c.*93+3265A>C (n.*93+3265A>C)
n.2283A>C
c.1610A>C (p.Asn537Thr)
n.2206A>C
22g.29681588A>GCA411150517NF2c.1589A>G (p.Asn530Ser)
c.*1218A>G (n.*1218A>G)
c.1724A>G (p.Asn575Ser)
c.1142A>G (p.Asn381Ser)
c.*1606A>G (n.*1606A>G)
c.1743A>G (n.1743A>G)
c.1475A>G (p.Asn492Ser)
c.1601A>G (p.Asn534Ser)
c.1598A>G (p.Asn533Ser)
c.1637A>G (p.Asn546Ser)
c.448-13164A>G (n.448-13164A>G)
c.*93+3265A>G (n.*93+3265A>G)
n.2283A>G
c.1610A>G (p.Asn537Ser)
n.2206A>G
 ClinVar dbSNP gnomAD v4
22g.29681588A>TCA411150519NF2c.1589A>T (p.Asn530Ile)
c.*1218A>T (n.*1218A>T)
c.1724A>T (p.Asn575Ile)
c.1142A>T (p.Asn381Ile)
c.*1606A>T (n.*1606A>T)
c.1743A>T (n.1743A>T)
c.1475A>T (p.Asn492Ile)
c.1601A>T (p.Asn534Ile)
c.1598A>T (p.Asn533Ile)
c.1637A>T (p.Asn546Ile)
c.448-13164A>T (n.448-13164A>T)
c.*93+3265A>T (n.*93+3265A>T)
n.2283A>T
c.1610A>T (p.Asn537Ile)
n.2206A>T
22g.29681589T>ACA411150521NF2c.1590T>A (p.Asn530Lys)
c.*1219T>A (n.*1219T>A)
c.1725T>A (p.Asn575Lys)
c.1143T>A (p.Asn381Lys)
c.*1607T>A (n.*1607T>A)
c.1744T>A (n.1744T>A)
c.1476T>A (p.Asn492Lys)
c.1602T>A (p.Asn534Lys)
c.1599T>A (p.Asn533Lys)
c.1638T>A (p.Asn546Lys)
c.448-13163T>A (n.448-13163T>A)
c.*93+3266T>A (n.*93+3266T>A)
n.2284T>A
c.1611T>A (p.Asn537Lys)
n.2207T>A
22g.29681589T>CCA514190652NF2c.1590T>C (p.Asn530=)
c.*1219T>C (n.*1219T>C)
c.1725T>C (p.Asn575=)
c.1143T>C (p.Asn381=)
c.*1607T>C (n.*1607T>C)
c.1744T>C (n.1744T>C)
c.1476T>C (p.Asn492=)
c.1602T>C (p.Asn534=)
c.1599T>C (p.Asn533=)
c.1638T>C (p.Asn546=)
c.448-13163T>C (n.448-13163T>C)
c.*93+3266T>C (n.*93+3266T>C)
n.2284T>C
c.1611T>C (p.Asn537=)
n.2207T>C
 ClinVar
22g.29681589T>GCA411150523NF2c.1590T>G (p.Asn530Lys)
c.*1219T>G (n.*1219T>G)
c.1725T>G (p.Asn575Lys)
c.1143T>G (p.Asn381Lys)
c.*1607T>G (n.*1607T>G)
c.1744T>G (n.1744T>G)
c.1476T>G (p.Asn492Lys)
c.1602T>G (p.Asn534Lys)
c.1599T>G (p.Asn533Lys)
c.1638T>G (p.Asn546Lys)
c.448-13163T>G (n.448-13163T>G)
c.*93+3266T>G (n.*93+3266T>G)
n.2284T>G
c.1611T>G (p.Asn537Lys)
n.2207T>G
22g.29681590A=CA2400686862NF2c.1591A= (p.Thr531=)
c.*1220A= (n.*1220A=)
c.1726A= (p.Thr576=)
c.1144A= (p.Thr382=)
c.*1608A= (n.*1608A=)
c.1745A= (n.1745A=)
c.1477A= (p.Thr493=)
c.1603A= (p.Thr535=)
c.1600A= (p.Thr534=)
c.1639A= (p.Thr547=)
c.448-13162A= (n.448-13162A=)
c.*93+3267A= (n.*93+3267A=)
n.2285A=
c.1612A= (p.Thr538=)
n.2208A=
22g.29681590A>CCA411150527NF2c.1591A>C (p.Thr531Pro)
c.*1220A>C (n.*1220A>C)
c.1726A>C (p.Thr576Pro)
c.1144A>C (p.Thr382Pro)
c.*1608A>C (n.*1608A>C)
c.1745A>C (n.1745A>C)
c.1477A>C (p.Thr493Pro)
c.1603A>C (p.Thr535Pro)
c.1600A>C (p.Thr534Pro)
c.1639A>C (p.Thr547Pro)
c.448-13162A>C (n.448-13162A>C)
c.*93+3267A>C (n.*93+3267A>C)
n.2285A>C
c.1612A>C (p.Thr538Pro)
n.2208A>C
22g.29681590A>GCA411150526NF2c.1591A>G (p.Thr531Ala)
c.*1220A>G (n.*1220A>G)
c.1726A>G (p.Thr576Ala)
c.1144A>G (p.Thr382Ala)
c.*1608A>G (n.*1608A>G)
c.1745A>G (n.1745A>G)
c.1477A>G (p.Thr493Ala)
c.1603A>G (p.Thr535Ala)
c.1600A>G (p.Thr534Ala)
c.1639A>G (p.Thr547Ala)
c.448-13162A>G (n.448-13162A>G)
c.*93+3267A>G (n.*93+3267A>G)
n.2285A>G
c.1612A>G (p.Thr538Ala)
n.2208A>G
22g.29681590A>TCA411150525NF2c.1591A>T (p.Thr531Ser)
c.*1220A>T (n.*1220A>T)
c.1726A>T (p.Thr576Ser)
c.1144A>T (p.Thr382Ser)
c.*1608A>T (n.*1608A>T)
c.1745A>T (n.1745A>T)
c.1477A>T (p.Thr493Ser)
c.1603A>T (p.Thr535Ser)
c.1600A>T (p.Thr534Ser)
c.1639A>T (p.Thr547Ser)
c.448-13162A>T (n.448-13162A>T)
c.*93+3267A>T (n.*93+3267A>T)
n.2285A>T
c.1612A>T (p.Thr538Ser)
n.2208A>T
 ClinVar dbSNP
22g.29681591C>ACA411150528NF2c.1592C>A (p.Thr531Asn)
c.*1221C>A (n.*1221C>A)
c.1727C>A (p.Thr576Asn)
c.1145C>A (p.Thr382Asn)
c.*1609C>A (n.*1609C>A)
c.1746C>A (n.1746C>A)
c.1478C>A (p.Thr493Asn)
c.1604C>A (p.Thr535Asn)
c.1601C>A (p.Thr534Asn)
c.1640C>A (p.Thr547Asn)
c.448-13161C>A (n.448-13161C>A)
c.*93+3268C>A (n.*93+3268C>A)
n.2286C>A
c.1613C>A (p.Thr538Asn)
n.2209C>A
22g.29681591C>GCA411150529NF2c.1592C>G (p.Thr531Ser)
c.*1221C>G (n.*1221C>G)
c.1727C>G (p.Thr576Ser)
c.1145C>G (p.Thr382Ser)
c.*1609C>G (n.*1609C>G)
c.1746C>G (n.1746C>G)
c.1478C>G (p.Thr493Ser)
c.1604C>G (p.Thr535Ser)
c.1601C>G (p.Thr534Ser)
c.1640C>G (p.Thr547Ser)
c.448-13161C>G (n.448-13161C>G)
c.*93+3268C>G (n.*93+3268C>G)
n.2286C>G
c.1613C>G (p.Thr538Ser)
n.2209C>G
22g.29681591C>TCA411150530NF2c.1592C>T (p.Thr531Ile)
c.*1221C>T (n.*1221C>T)
c.1727C>T (p.Thr576Ile)
c.1145C>T (p.Thr382Ile)
c.*1609C>T (n.*1609C>T)
c.1746C>T (n.1746C>T)
c.1478C>T (p.Thr493Ile)
c.1604C>T (p.Thr535Ile)
c.1601C>T (p.Thr534Ile)
c.1640C>T (p.Thr547Ile)
c.448-13161C>T (n.448-13161C>T)
c.*93+3268C>T (n.*93+3268C>T)
n.2286C>T
c.1613C>T (p.Thr538Ile)
n.2209C>T
22g.29681592C>ACA514190653NF2c.1593C>A (p.Thr531=)
c.*1222C>A (n.*1222C>A)
c.1728C>A (p.Thr576=)
c.1146C>A (p.Thr382=)
c.*1610C>A (n.*1610C>A)
c.1747C>A (n.1747C>A)
c.1479C>A (p.Thr493=)
c.1605C>A (p.Thr535=)
c.1602C>A (p.Thr534=)
c.1641C>A (p.Thr547=)
c.448-13160C>A (n.448-13160C>A)
c.*93+3269C>A (n.*93+3269C>A)
n.2287C>A
c.1614C>A (p.Thr538=)
n.2210C>A
22g.29681592C>GCA514190654NF2c.1593C>G (p.Thr531=)
c.*1222C>G (n.*1222C>G)
c.1728C>G (p.Thr576=)
c.1146C>G (p.Thr382=)
c.*1610C>G (n.*1610C>G)
c.1747C>G (n.1747C>G)
c.1479C>G (p.Thr493=)
c.1605C>G (p.Thr535=)
c.1602C>G (p.Thr534=)
c.1641C>G (p.Thr547=)
c.448-13160C>G (n.448-13160C>G)
c.*93+3269C>G (n.*93+3269C>G)
n.2287C>G
c.1614C>G (p.Thr538=)
n.2210C>G
22g.29681592C>TCA514190655NF2c.1593C>T (p.Thr531=)
c.*1222C>T (n.*1222C>T)
c.1728C>T (p.Thr576=)
c.1146C>T (p.Thr382=)
c.*1610C>T (n.*1610C>T)
c.1747C>T (n.1747C>T)
c.1479C>T (p.Thr493=)
c.1605C>T (p.Thr535=)
c.1602C>T (p.Thr534=)
c.1641C>T (p.Thr547=)
c.448-13160C>T (n.448-13160C>T)
c.*93+3269C>T (n.*93+3269C>T)
n.2287C>T
c.1614C>T (p.Thr538=)
n.2210C>T
 gnomAD v4
22g.29681593A>CCA411150531NF2c.1594A>C (p.Ile532Leu)
c.*1223A>C (n.*1223A>C)
c.1729A>C (p.Ile577Leu)
c.1147A>C (p.Ile383Leu)
c.*1611A>C (n.*1611A>C)
c.1748A>C (n.1748A>C)
c.1480A>C (p.Ile494Leu)
c.1606A>C (p.Ile536Leu)
c.1603A>C (p.Ile535Leu)
c.1642A>C (p.Ile548Leu)
c.448-13159A>C (n.448-13159A>C)
c.*93+3270A>C (n.*93+3270A>C)
n.2288A>C
c.1615A>C (p.Ile539Leu)
n.2211A>C
 gnomAD v4
22g.29681593A>GCA411150532NF2c.1594A>G (p.Ile532Val)
c.*1223A>G (n.*1223A>G)
c.1729A>G (p.Ile577Val)
c.1147A>G (p.Ile383Val)
c.*1611A>G (n.*1611A>G)
c.1748A>G (n.1748A>G)
c.1480A>G (p.Ile494Val)
c.1606A>G (p.Ile536Val)
c.1603A>G (p.Ile535Val)
c.1642A>G (p.Ile548Val)
c.448-13159A>G (n.448-13159A>G)
c.*93+3270A>G (n.*93+3270A>G)
n.2288A>G
c.1615A>G (p.Ile539Val)
n.2211A>G
22g.29681593A>TCA411150533NF2c.1594A>T (p.Ile532Phe)
c.*1223A>T (n.*1223A>T)
c.1729A>T (p.Ile577Phe)
c.1147A>T (p.Ile383Phe)
c.*1611A>T (n.*1611A>T)
c.1748A>T (n.1748A>T)
c.1480A>T (p.Ile494Phe)
c.1606A>T (p.Ile536Phe)
c.1603A>T (p.Ile535Phe)
c.1642A>T (p.Ile548Phe)
c.448-13159A>T (n.448-13159A>T)
c.*93+3270A>T (n.*93+3270A>T)
n.2288A>T
c.1615A>T (p.Ile539Phe)
n.2211A>T
22g.29681594T>ACA411150534NF2c.1595T>A (p.Ile532Asn)
c.*1224T>A (n.*1224T>A)
c.1730T>A (p.Ile577Asn)
c.1148T>A (p.Ile383Asn)
c.*1612T>A (n.*1612T>A)
c.1749T>A (n.1749T>A)
c.1481T>A (p.Ile494Asn)
c.1607T>A (p.Ile536Asn)
c.1604T>A (p.Ile535Asn)
c.1643T>A (p.Ile548Asn)
c.448-13158T>A (n.448-13158T>A)
c.*93+3271T>A (n.*93+3271T>A)
n.2289T>A
c.1616T>A (p.Ile539Asn)
n.2212T>A
22g.29681594T>CCA411150535NF2c.1595T>C (p.Ile532Thr)
c.*1224T>C (n.*1224T>C)
c.1730T>C (p.Ile577Thr)
c.1148T>C (p.Ile383Thr)
c.*1612T>C (n.*1612T>C)
c.1749T>C (n.1749T>C)
c.1481T>C (p.Ile494Thr)
c.1607T>C (p.Ile536Thr)
c.1604T>C (p.Ile535Thr)
c.1643T>C (p.Ile548Thr)
c.448-13158T>C (n.448-13158T>C)
c.*93+3271T>C (n.*93+3271T>C)
n.2289T>C
c.1616T>C (p.Ile539Thr)
n.2212T>C
22g.29681594T>GCA411150536NF2c.1595T>G (p.Ile532Ser)
c.*1224T>G (n.*1224T>G)
c.1730T>G (p.Ile577Ser)
c.1148T>G (p.Ile383Ser)
c.*1612T>G (n.*1612T>G)
c.1749T>G (n.1749T>G)
c.1481T>G (p.Ile494Ser)
c.1607T>G (p.Ile536Ser)
c.1604T>G (p.Ile535Ser)
c.1643T>G (p.Ile548Ser)
c.448-13158T>G (n.448-13158T>G)
c.*93+3271T>G (n.*93+3271T>G)
n.2289T>G
c.1616T>G (p.Ile539Ser)
n.2212T>G
22g.29681595T>ACA514190656NF2c.1596T>A (p.Ile532=)
c.*1225T>A (n.*1225T>A)
c.1731T>A (p.Ile577=)
c.1149T>A (p.Ile383=)
c.*1613T>A (n.*1613T>A)
c.1750T>A (n.1750T>A)
c.1482T>A (p.Ile494=)
c.1608T>A (p.Ile536=)
c.1605T>A (p.Ile535=)
c.1644T>A (p.Ile548=)
c.448-13157T>A (n.448-13157T>A)
c.*93+3272T>A (n.*93+3272T>A)
n.2290T>A
c.1617T>A (p.Ile539=)
n.2213T>A
22g.29681595T>CCA514190657NF2c.1596T>C (p.Ile532=)
c.*1225T>C (n.*1225T>C)
c.1731T>C (p.Ile577=)
c.1149T>C (p.Ile383=)
c.*1613T>C (n.*1613T>C)
c.1750T>C (n.1750T>C)
c.1482T>C (p.Ile494=)
c.1608T>C (p.Ile536=)
c.1605T>C (p.Ile535=)
c.1644T>C (p.Ile548=)
c.448-13157T>C (n.448-13157T>C)
c.*93+3272T>C (n.*93+3272T>C)
n.2290T>C
c.1617T>C (p.Ile539=)
n.2213T>C
 ClinVar
22g.29681595T>GCA411150537NF2c.1596T>G (p.Ile532Met)
c.*1225T>G (n.*1225T>G)
c.1731T>G (p.Ile577Met)
c.1149T>G (p.Ile383Met)
c.*1613T>G (n.*1613T>G)
c.1750T>G (n.1750T>G)
c.1482T>G (p.Ile494Met)
c.1608T>G (p.Ile536Met)
c.1605T>G (p.Ile535Met)
c.1644T>G (p.Ile548Met)
c.448-13157T>G (n.448-13157T>G)
c.*93+3272T>G (n.*93+3272T>G)
n.2290T>G
c.1617T>G (p.Ile539Met)
n.2213T>G
22g.29681596A>CCA411150538NF2c.1597A>C (p.Lys533Gln)
c.*1226A>C (n.*1226A>C)
c.1732A>C (p.Lys578Gln)
c.1150A>C (p.Lys384Gln)
c.*1614A>C (n.*1614A>C)
c.1751A>C (n.1751A>C)
c.1483A>C (p.Lys495Gln)
c.1609A>C (p.Lys537Gln)
c.1606A>C (p.Lys536Gln)
c.1645A>C (p.Lys549Gln)
c.448-13156A>C (n.448-13156A>C)
c.*93+3273A>C (n.*93+3273A>C)
n.2291A>C
c.1618A>C (p.Lys540Gln)
n.2214A>C
22g.29681596A>GCA411150539NF2c.1597A>G (p.Lys533Glu)
c.*1226A>G (n.*1226A>G)
c.1732A>G (p.Lys578Glu)
c.1150A>G (p.Lys384Glu)
c.*1614A>G (n.*1614A>G)
c.1751A>G (n.1751A>G)
c.1483A>G (p.Lys495Glu)
c.1609A>G (p.Lys537Glu)
c.1606A>G (p.Lys536Glu)
c.1645A>G (p.Lys549Glu)
c.448-13156A>G (n.448-13156A>G)
c.*93+3273A>G (n.*93+3273A>G)
n.2291A>G
c.1618A>G (p.Lys540Glu)
n.2214A>G
 ClinVar dbSNP gnomAD v4
22g.29681596A>TCA411150540NF2c.1597A>T (p.Lys533Ter)
c.*1226A>T (n.*1226A>T)
c.1732A>T (p.Lys578Ter)
c.1150A>T (p.Lys384Ter)
c.*1614A>T (n.*1614A>T)
c.1751A>T (n.1751A>T)
c.1483A>T (p.Lys495Ter)
c.1609A>T (p.Lys537Ter)
c.1606A>T (p.Lys536Ter)
c.1645A>T (p.Lys549Ter)
c.448-13156A>T (n.448-13156A>T)
c.*93+3273A>T (n.*93+3273A>T)
n.2291A>T
c.1618A>T (p.Lys540Ter)
n.2214A>T
22g.29681600dupCA2695230532NF2c.1601dup (p.Leu535AlafsTer14)
c.*1230dup (n.*1230dup)
c.1736dup (p.Leu580AlafsTer14)
c.1154dup (p.Leu386AlafsTer14)
c.1736dup (p.Pro580AlafsTer29)
c.*1618dup (n.*1618dup)
c.1755dup (n.1755dup)
c.1487dup (p.Pro497AlafsTer20)
c.1487dup (p.Pro497AlafsTer29)
c.1613dup (p.Pro539AlafsTer29)
c.1610dup (p.Pro538AlafsTer29)
c.1736dup (p.Pro580AlafsTer?)
c.1649dup (p.Pro551AlafsTer20)
c.448-13152dup (n.448-13152dup)
c.*93+3277dup (n.*93+3277dup)
n.2295dup
c.1622dup (p.Leu542AlafsTer14)
c.1622dup (p.Pro542AlafsTer29)
n.2218dup
22g.29681600delCA2738087970NF2c.1601del (p.Lys534SerfsTer20)
c.*1230del (n.*1230del)
c.1736del (p.Lys579SerfsTer20)
c.1154del (p.Lys385SerfsTer20)
c.1736del (p.Lys579SerfsTer?)
c.*1618del (n.*1618del)
c.1755del (n.1755del)
c.1487del (p.Lys496SerfsTer22)
c.1487del (p.Lys496SerfsTer?)
c.1613del (p.Lys538SerfsTer?)
c.1610del (p.Lys537SerfsTer?)
c.1736del (p.Lys579SerfsTer17)
c.1649del (p.Lys550SerfsTer22)
c.448-13152del (n.448-13152del)
c.*93+3277del (n.*93+3277del)
n.2295del
c.1622del (p.Lys541SerfsTer20)
c.1622del (p.Lys541SerfsTer?)
n.2218del
 dbSNP
22g.29681598_29681600delCA2656032922NF2c.1599_1601del (p.Lys534del)
c.*1228_*1230del (n.*1228_*1230del)
c.1734_1736del (p.Lys579del)
c.1152_1154del (p.Lys385del)
c.*1616_*1618del (n.*1616_*1618del)
c.1753_1755del (n.1753_1755del)
c.1485_1487del (p.Lys496del)
c.1611_1613del (p.Lys538del)
c.1608_1610del (p.Lys537del)
c.1647_1649del (p.Lys550del)
c.448-13154_448-13152del (n.448-13154_448-13152del)
c.*93+3275_*93+3277del (n.*93+3275_*93+3277del)
n.2293_2295del
c.1620_1622del (p.Lys541del)
n.2216_2218del
 gnomAD v4
22g.29681597A=CA2400686863NF2c.1598A= (p.Lys533=)
c.*1227A= (n.*1227A=)
c.1733A= (p.Lys578=)
c.1151A= (p.Lys384=)
c.*1615A= (n.*1615A=)
c.1752A= (n.1752A=)
c.1484A= (p.Lys495=)
c.1610A= (p.Lys537=)
c.1607A= (p.Lys536=)
c.1646A= (p.Lys549=)
c.448-13155A= (n.448-13155A=)
c.*93+3274A= (n.*93+3274A=)
n.2292A=
c.1619A= (p.Lys540=)
n.2215A=
22g.29681597A>CCA411150542NF2c.1598A>C (p.Lys533Thr)
c.*1227A>C (n.*1227A>C)
c.1733A>C (p.Lys578Thr)
c.1151A>C (p.Lys384Thr)
c.*1615A>C (n.*1615A>C)
c.1752A>C (n.1752A>C)
c.1484A>C (p.Lys495Thr)
c.1610A>C (p.Lys537Thr)
c.1607A>C (p.Lys536Thr)
c.1646A>C (p.Lys549Thr)
c.448-13155A>C (n.448-13155A>C)
c.*93+3274A>C (n.*93+3274A>C)
n.2292A>C
c.1619A>C (p.Lys540Thr)
n.2215A>C
22g.29681597A>GCA411150543NF2c.1598A>G (p.Lys533Arg)
c.*1227A>G (n.*1227A>G)
c.1733A>G (p.Lys578Arg)
c.1151A>G (p.Lys384Arg)
c.*1615A>G (n.*1615A>G)
c.1752A>G (n.1752A>G)
c.1484A>G (p.Lys495Arg)
c.1610A>G (p.Lys537Arg)
c.1607A>G (p.Lys536Arg)
c.1646A>G (p.Lys549Arg)
c.448-13155A>G (n.448-13155A>G)
c.*93+3274A>G (n.*93+3274A>G)
n.2292A>G
c.1619A>G (p.Lys540Arg)
n.2215A>G
 ClinVar dbSNP
22g.29681597A>TCA411150541NF2c.1598A>T (p.Lys533Ile)
c.*1227A>T (n.*1227A>T)
c.1733A>T (p.Lys578Ile)
c.1151A>T (p.Lys384Ile)
c.*1615A>T (n.*1615A>T)
c.1752A>T (n.1752A>T)
c.1484A>T (p.Lys495Ile)
c.1610A>T (p.Lys537Ile)
c.1607A>T (p.Lys536Ile)
c.1646A>T (p.Lys549Ile)
c.448-13155A>T (n.448-13155A>T)
c.*93+3274A>T (n.*93+3274A>T)
n.2292A>T
c.1619A>T (p.Lys540Ile)
n.2215A>T
22g.29681598A=CA2400686864NF2c.1599A= (p.Lys533=)
c.*1228A= (n.*1228A=)
c.1734A= (p.Lys578=)
c.1152A= (p.Lys384=)
c.*1616A= (n.*1616A=)
c.1753A= (n.1753A=)
c.1485A= (p.Lys495=)
c.1611A= (p.Lys537=)
c.1608A= (p.Lys536=)
c.1647A= (p.Lys549=)
c.448-13154A= (n.448-13154A=)
c.*93+3275A= (n.*93+3275A=)
n.2293A=
c.1620A= (p.Lys540=)
n.2216A=
22g.29681598A>CCA411150544NF2c.1599A>C (p.Lys533Asn)
c.*1228A>C (n.*1228A>C)
c.1734A>C (p.Lys578Asn)
c.1152A>C (p.Lys384Asn)
c.*1616A>C (n.*1616A>C)
c.1753A>C (n.1753A>C)
c.1485A>C (p.Lys495Asn)
c.1611A>C (p.Lys537Asn)
c.1608A>C (p.Lys536Asn)
c.1647A>C (p.Lys549Asn)
c.448-13154A>C (n.448-13154A>C)
c.*93+3275A>C (n.*93+3275A>C)
n.2293A>C
c.1620A>C (p.Lys540Asn)
n.2216A>C
22g.29681598A>GCA514190660NF2c.1599A>G (p.Lys533=)
c.*1228A>G (n.*1228A>G)
c.1734A>G (p.Lys578=)
c.1152A>G (p.Lys384=)
c.*1616A>G (n.*1616A>G)
c.1753A>G (n.1753A>G)
c.1485A>G (p.Lys495=)
c.1611A>G (p.Lys537=)
c.1608A>G (p.Lys536=)
c.1647A>G (p.Lys549=)
c.448-13154A>G (n.448-13154A>G)
c.*93+3275A>G (n.*93+3275A>G)
n.2293A>G
c.1620A>G (p.Lys540=)
n.2216A>G
 dbSNP gnomAD v4
22g.29681598A>TCA411150545NF2c.1599A>T (p.Lys533Asn)
c.*1228A>T (n.*1228A>T)
c.1734A>T (p.Lys578Asn)
c.1152A>T (p.Lys384Asn)
c.*1616A>T (n.*1616A>T)
c.1753A>T (n.1753A>T)
c.1485A>T (p.Lys495Asn)
c.1611A>T (p.Lys537Asn)
c.1608A>T (p.Lys536Asn)
c.1647A>T (p.Lys549Asn)
c.448-13154A>T (n.448-13154A>T)
c.*93+3275A>T (n.*93+3275A>T)
n.2293A>T
c.1620A>T (p.Lys540Asn)
n.2216A>T
22g.29681599A=CA2400686865NF2c.1600A= (p.Lys534=)
c.*1229A= (n.*1229A=)
c.1735A= (p.Lys579=)
c.1153A= (p.Lys385=)
c.*1617A= (n.*1617A=)
c.1754A= (n.1754A=)
c.1486A= (p.Lys496=)
c.1612A= (p.Lys538=)
c.1609A= (p.Lys537=)
c.1648A= (p.Lys550=)
c.448-13153A= (n.448-13153A=)
c.*93+3276A= (n.*93+3276A=)
n.2294A=
c.1621A= (p.Lys541=)
n.2217A=
22g.29681599A>CCA411150546NF2c.1600A>C (p.Lys534Gln)
c.*1229A>C (n.*1229A>C)
c.1735A>C (p.Lys579Gln)
c.1153A>C (p.Lys385Gln)
c.*1617A>C (n.*1617A>C)
c.1754A>C (n.1754A>C)
c.1486A>C (p.Lys496Gln)
c.1612A>C (p.Lys538Gln)
c.1609A>C (p.Lys537Gln)
c.1648A>C (p.Lys550Gln)
c.448-13153A>C (n.448-13153A>C)
c.*93+3276A>C (n.*93+3276A>C)
n.2294A>C
c.1621A>C (p.Lys541Gln)
n.2217A>C
 ClinVar dbSNP
22g.29681599A>GCA411150548NF2c.1600A>G (p.Lys534Glu)
c.*1229A>G (n.*1229A>G)
c.1735A>G (p.Lys579Glu)
c.1153A>G (p.Lys385Glu)
c.*1617A>G (n.*1617A>G)
c.1754A>G (n.1754A>G)
c.1486A>G (p.Lys496Glu)
c.1612A>G (p.Lys538Glu)
c.1609A>G (p.Lys537Glu)
c.1648A>G (p.Lys550Glu)
c.448-13153A>G (n.448-13153A>G)
c.*93+3276A>G (n.*93+3276A>G)
n.2294A>G
c.1621A>G (p.Lys541Glu)
n.2217A>G
 ClinVar
22g.29681599A>TCA411150547NF2c.1600A>T (p.Lys534Ter)
c.*1229A>T (n.*1229A>T)
c.1735A>T (p.Lys579Ter)
c.1153A>T (p.Lys385Ter)
c.*1617A>T (n.*1617A>T)
c.1754A>T (n.1754A>T)
c.1486A>T (p.Lys496Ter)
c.1612A>T (p.Lys538Ter)
c.1609A>T (p.Lys537Ter)
c.1648A>T (p.Lys550Ter)
c.448-13153A>T (n.448-13153A>T)
c.*93+3276A>T (n.*93+3276A>T)
n.2294A>T
c.1621A>T (p.Lys541Ter)
n.2217A>T

Number of alleles fetched