UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.29681439_29681601del | CA645601219 | NF2 | c.1440_1602del c.*1069_*1231del c.1575_1737del c.993_1155del c.*1457_*1619del c.1594_1756del c.1326_1488del c.1452_1614del c.1449_1611del c.1488_1650del c.448-13313_448-13151del (n.448-13313_448-13151del) c.*93+3116_*93+3278del (n.*93+3116_*93+3278del) n.2134_2296del c.1461_1623del n.2057_2219del | COSMIC |
| 22 | g.29681473_29681478del | CA2573157892 | NF2 | c.1474_1479del (p.Glu492_Gln493del) c.*1103_*1108del (n.*1103_*1108del) c.1609_1614del (p.Glu537_Gln538del) c.1027_1032del (p.Glu343_Gln344del) c.*1491_*1496del (n.*1491_*1496del) c.1628_1633del (n.1628_1633del) c.1360_1365del (p.Glu454_Gln455del) c.1486_1491del (p.Glu496_Gln497del) c.1483_1488del (p.Glu495_Gln496del) c.1522_1527del (p.Glu508_Gln509del) c.448-13279_448-13274del (n.448-13279_448-13274del) c.*93+3150_*93+3155del (n.*93+3150_*93+3155del) n.2168_2173del c.1495_1500del (p.Glu499_Gln500del) n.2091_2096del | ClinVar dbSNP |
| 22 | g.29681475_29681515del | CA2695230527 | NF2 | c.1476_1516del (p.Glu492AspfsTer14) c.*1105_*1145del (n.*1105_*1145del) c.1611_1651del (p.Glu537AspfsTer14) c.1029_1069del (p.Glu343AspfsTer14) c.*1493_*1533del (n.*1493_*1533del) c.1630_1670del (n.1630_1670del) c.1362_1402del (p.Glu454AspfsTer14) c.1488_1528del (p.Glu496AspfsTer14) c.1485_1525del (p.Glu495AspfsTer14) c.1524_1564del (p.Glu508AspfsTer14) c.448-13277_448-13237del (n.448-13277_448-13237del) c.*93+3152_*93+3192del (n.*93+3152_*93+3192del) n.2170_2210del c.1497_1537del (p.Glu499AspfsTer14) n.2093_2133del | |
| 22 | g.29681477A= | CA2400686809 | NF2 | c.1478A= (p.Gln493=) c.*1107A= (n.*1107A=) c.1613A= (p.Gln538=) c.1031A= (p.Gln344=) c.*1495A= (n.*1495A=) c.1632A= (n.1632A=) c.1364A= (p.Gln455=) c.1490A= (p.Gln497=) c.1487A= (p.Gln496=) c.1526A= (p.Gln509=) c.448-13275A= (n.448-13275A=) c.*93+3154A= (n.*93+3154A=) n.2172A= c.1499A= (p.Gln500=) n.2095A= | |
| 22 | g.29681477A>C | CA021363 | NF2 | c.1478A>C (p.Gln493Pro) c.*1107A>C (n.*1107A>C) c.1613A>C (p.Gln538Pro) c.1031A>C (p.Gln344Pro) c.*1495A>C (n.*1495A>C) c.1632A>C (n.1632A>C) c.1364A>C (p.Gln455Pro) c.1490A>C (p.Gln497Pro) c.1487A>C (p.Gln496Pro) c.1526A>C (p.Gln509Pro) c.448-13275A>C (n.448-13275A>C) c.*93+3154A>C (n.*93+3154A>C) n.2172A>C c.1499A>C (p.Gln500Pro) n.2095A>C | ClinVar dbSNP |
| 22 | g.29681477A>G | CA411150076 | NF2 | c.1478A>G (p.Gln493Arg) c.*1107A>G (n.*1107A>G) c.1613A>G (p.Gln538Arg) c.1031A>G (p.Gln344Arg) c.*1495A>G (n.*1495A>G) c.1632A>G (n.1632A>G) c.1364A>G (p.Gln455Arg) c.1490A>G (p.Gln497Arg) c.1487A>G (p.Gln496Arg) c.1526A>G (p.Gln509Arg) c.448-13275A>G (n.448-13275A>G) c.*93+3154A>G (n.*93+3154A>G) n.2172A>G c.1499A>G (p.Gln500Arg) n.2095A>G | |
| 22 | g.29681477A>T | CA411150077 | NF2 | c.1478A>T (p.Gln493Leu) c.*1107A>T (n.*1107A>T) c.1613A>T (p.Gln538Leu) c.1031A>T (p.Gln344Leu) c.*1495A>T (n.*1495A>T) c.1632A>T (n.1632A>T) c.1364A>T (p.Gln455Leu) c.1490A>T (p.Gln497Leu) c.1487A>T (p.Gln496Leu) c.1526A>T (p.Gln509Leu) c.448-13275A>T (n.448-13275A>T) c.*93+3154A>T (n.*93+3154A>T) n.2172A>T c.1499A>T (p.Gln500Leu) n.2095A>T | |
| 22 | g.29681477dup | CA2499226115 | NF2 | c.1478dup (p.Leu494AlafsTer3) c.*1107dup (n.*1107dup) c.1613dup (p.Leu539AlafsTer3) c.1031dup (p.Leu345AlafsTer3) c.*1495dup (n.*1495dup) c.1632dup (n.1632dup) c.1364dup (p.Leu456AlafsTer3) c.1490dup (p.Leu498AlafsTer3) c.1487dup (p.Leu497AlafsTer3) c.1526dup (p.Leu510AlafsTer3) c.448-13275dup (n.448-13275dup) c.*93+3154dup (n.*93+3154dup) n.2172dup c.1499dup (p.Leu501AlafsTer3) n.2095dup | ClinVar dbSNP |
| 22 | g.29681478del | CA514190378 | NF2 | c.1479del (p.Gln493HisfsTer12) c.*1108del (n.*1108del) c.1614del (p.Gln538HisfsTer12) c.1032del (p.Gln344HisfsTer12) c.*1496del (n.*1496del) c.1633del (n.1633del) c.1365del (p.Gln455HisfsTer12) c.1491del (p.Gln497HisfsTer12) c.1488del (p.Gln496HisfsTer12) c.1527del (p.Gln509HisfsTer12) c.448-13274del (n.448-13274del) c.*93+3155del (n.*93+3155del) n.2173del c.1500del (p.Gln500HisfsTer12) n.2096del | COSMIC |
| 22 | g.29681478G>A | CA514190376 | NF2 | c.1479G>A (p.Gln493=) c.*1108G>A (n.*1108G>A) c.1614G>A (p.Gln538=) c.1032G>A (p.Gln344=) c.*1496G>A (n.*1496G>A) c.1633G>A (n.1633G>A) c.1365G>A (p.Gln455=) c.1491G>A (p.Gln497=) c.1488G>A (p.Gln496=) c.1527G>A (p.Gln509=) c.448-13274G>A (n.448-13274G>A) c.*93+3155G>A (n.*93+3155G>A) n.2173G>A c.1500G>A (p.Gln500=) n.2096G>A | ClinVar dbSNP |
| 22 | g.29681478G>C | CA411150078 | NF2 | c.1479G>C (p.Gln493His) c.*1108G>C (n.*1108G>C) c.1614G>C (p.Gln538His) c.1032G>C (p.Gln344His) c.*1496G>C (n.*1496G>C) c.1633G>C (n.1633G>C) c.1365G>C (p.Gln455His) c.1491G>C (p.Gln497His) c.1488G>C (p.Gln496His) c.1527G>C (p.Gln509His) c.448-13274G>C (n.448-13274G>C) c.*93+3155G>C (n.*93+3155G>C) n.2173G>C c.1500G>C (p.Gln500His) n.2096G>C | |
| 22 | g.29681478G= | CA2400686810 | NF2 | c.1479G= (p.Gln493=) c.*1108G= (n.*1108G=) c.1614G= (p.Gln538=) c.1032G= (p.Gln344=) c.*1496G= (n.*1496G=) c.1633G= (n.1633G=) c.1365G= (p.Gln455=) c.1491G= (p.Gln497=) c.1488G= (p.Gln496=) c.1527G= (p.Gln509=) c.448-13274G= (n.448-13274G=) c.*93+3155G= (n.*93+3155G=) n.2173G= c.1500G= (p.Gln500=) n.2096G= | |
| 22 | g.29681478G>T | CA411150079 | NF2 | c.1479G>T (p.Gln493His) c.*1108G>T (n.*1108G>T) c.1614G>T (p.Gln538His) c.1032G>T (p.Gln344His) c.*1496G>T (n.*1496G>T) c.1633G>T (n.1633G>T) c.1365G>T (p.Gln455His) c.1491G>T (p.Gln497His) c.1488G>T (p.Gln496His) c.1527G>T (p.Gln509His) c.448-13274G>T (n.448-13274G>T) c.*93+3155G>T (n.*93+3155G>T) n.2173G>T c.1500G>T (p.Gln500His) n.2096G>T | |
| 22 | g.29681479C>A | CA411150082 | NF2 | c.1480C>A (p.Leu494Ile) c.*1109C>A (n.*1109C>A) c.1615C>A (p.Leu539Ile) c.1033C>A (p.Leu345Ile) c.*1497C>A (n.*1497C>A) c.1634C>A (n.1634C>A) c.1366C>A (p.Leu456Ile) c.1492C>A (p.Leu498Ile) c.1489C>A (p.Leu497Ile) c.1528C>A (p.Leu510Ile) c.448-13273C>A (n.448-13273C>A) c.*93+3156C>A (n.*93+3156C>A) n.2174C>A c.1501C>A (p.Leu501Ile) n.2097C>A | |
| 22 | g.29681479C>G | CA411150081 | NF2 | c.1480C>G (p.Leu494Val) c.*1109C>G (n.*1109C>G) c.1615C>G (p.Leu539Val) c.1033C>G (p.Leu345Val) c.*1497C>G (n.*1497C>G) c.1634C>G (n.1634C>G) c.1366C>G (p.Leu456Val) c.1492C>G (p.Leu498Val) c.1489C>G (p.Leu497Val) c.1528C>G (p.Leu510Val) c.448-13273C>G (n.448-13273C>G) c.*93+3156C>G (n.*93+3156C>G) n.2174C>G c.1501C>G (p.Leu501Val) n.2097C>G | ClinVar gnomAD v4 |
| 22 | g.29681479C>T | CA411150080 | NF2 | c.1480C>T (p.Leu494Phe) c.*1109C>T (n.*1109C>T) c.1615C>T (p.Leu539Phe) c.1033C>T (p.Leu345Phe) c.*1497C>T (n.*1497C>T) c.1634C>T (n.1634C>T) c.1366C>T (p.Leu456Phe) c.1492C>T (p.Leu498Phe) c.1489C>T (p.Leu497Phe) c.1528C>T (p.Leu510Phe) c.448-13273C>T (n.448-13273C>T) c.*93+3156C>T (n.*93+3156C>T) n.2174C>T c.1501C>T (p.Leu501Phe) n.2097C>T | ClinVar |
| 22 | g.29681480T>A | CA411150083 | NF2 | c.1481T>A (p.Leu494His) c.*1110T>A (n.*1110T>A) c.1616T>A (p.Leu539His) c.1034T>A (p.Leu345His) c.*1498T>A (n.*1498T>A) c.1635T>A (n.1635T>A) c.1367T>A (p.Leu456His) c.1493T>A (p.Leu498His) c.1490T>A (p.Leu497His) c.1529T>A (p.Leu510His) c.448-13272T>A (n.448-13272T>A) c.*93+3157T>A (n.*93+3157T>A) n.2175T>A c.1502T>A (p.Leu501His) n.2098T>A | dbSNP COSMIC |
| 22 | g.29681480T>C | CA411150084 | NF2 | c.1481T>C (p.Leu494Pro) c.*1110T>C (n.*1110T>C) c.1616T>C (p.Leu539Pro) c.1034T>C (p.Leu345Pro) c.*1498T>C (n.*1498T>C) c.1635T>C (n.1635T>C) c.1367T>C (p.Leu456Pro) c.1493T>C (p.Leu498Pro) c.1490T>C (p.Leu497Pro) c.1529T>C (p.Leu510Pro) c.448-13272T>C (n.448-13272T>C) c.*93+3157T>C (n.*93+3157T>C) n.2175T>C c.1502T>C (p.Leu501Pro) n.2098T>C | ClinVar dbSNP |
| 22 | g.29681480T>G | CA411150085 | NF2 | c.1481T>G (p.Leu494Arg) c.*1110T>G (n.*1110T>G) c.1616T>G (p.Leu539Arg) c.1034T>G (p.Leu345Arg) c.*1498T>G (n.*1498T>G) c.1635T>G (n.1635T>G) c.1367T>G (p.Leu456Arg) c.1493T>G (p.Leu498Arg) c.1490T>G (p.Leu497Arg) c.1529T>G (p.Leu510Arg) c.448-13272T>G (n.448-13272T>G) c.*93+3157T>G (n.*93+3157T>G) n.2175T>G c.1502T>G (p.Leu501Arg) n.2098T>G | |
| 22 | g.29681481C>A | CA514190382 | NF2 | c.1482C>A (p.Leu494=) c.*1111C>A (n.*1111C>A) c.1617C>A (p.Leu539=) c.1035C>A (p.Leu345=) c.*1499C>A (n.*1499C>A) c.1636C>A (n.1636C>A) c.1368C>A (p.Leu456=) c.1494C>A (p.Leu498=) c.1491C>A (p.Leu497=) c.1530C>A (p.Leu510=) c.448-13271C>A (n.448-13271C>A) c.*93+3158C>A (n.*93+3158C>A) n.2176C>A c.1503C>A (p.Leu501=) n.2099C>A | |
| 22 | g.29681481C= | CA2400686811 | NF2 | c.1482C= (p.Leu494=) c.*1111C= (n.*1111C=) c.1617C= (p.Leu539=) c.1035C= (p.Leu345=) c.*1499C= (n.*1499C=) c.1636C= (n.1636C=) c.1368C= (p.Leu456=) c.1494C= (p.Leu498=) c.1491C= (p.Leu497=) c.1530C= (p.Leu510=) c.448-13271C= (n.448-13271C=) c.*93+3158C= (n.*93+3158C=) n.2176C= c.1503C= (p.Leu501=) n.2099C= | |
| 22 | g.29681481C>G | CA514190384 | NF2 | c.1482C>G (p.Leu494=) c.*1111C>G (n.*1111C>G) c.1617C>G (p.Leu539=) c.1035C>G (p.Leu345=) c.*1499C>G (n.*1499C>G) c.1636C>G (n.1636C>G) c.1368C>G (p.Leu456=) c.1494C>G (p.Leu498=) c.1491C>G (p.Leu497=) c.1530C>G (p.Leu510=) c.448-13271C>G (n.448-13271C>G) c.*93+3158C>G (n.*93+3158C>G) n.2176C>G c.1503C>G (p.Leu501=) n.2099C>G | |
| 22 | g.29681481C>T | CA514190383 | NF2 | c.1482C>T (p.Leu494=) c.*1111C>T (n.*1111C>T) c.1617C>T (p.Leu539=) c.1035C>T (p.Leu345=) c.*1499C>T (n.*1499C>T) c.1636C>T (n.1636C>T) c.1368C>T (p.Leu456=) c.1494C>T (p.Leu498=) c.1491C>T (p.Leu497=) c.1530C>T (p.Leu510=) c.448-13271C>T (n.448-13271C>T) c.*93+3158C>T (n.*93+3158C>T) n.2176C>T c.1503C>T (p.Leu501=) n.2099C>T | ClinVar dbSNP |
| 22 | g.29681481dup | CA2695230528 | NF2 | c.1482dup (p.Asn495GlnfsTer2) c.*1111dup (n.*1111dup) c.1617dup (p.Asn540GlnfsTer2) c.1035dup (p.Asn346GlnfsTer2) c.*1499dup (n.*1499dup) c.1636dup (n.1636dup) c.1368dup (p.Asn457GlnfsTer2) c.1494dup (p.Asn499GlnfsTer2) c.1491dup (p.Asn498GlnfsTer2) c.1530dup (p.Asn511GlnfsTer2) c.448-13271dup (n.448-13271dup) c.*93+3158dup (n.*93+3158dup) n.2176dup c.1503dup (p.Asn502GlnfsTer2) n.2099dup | |
| 22 | g.29681482A= | CA2400686812 | NF2 | c.1483A= (p.Asn495=) c.*1112A= (n.*1112A=) c.1618A= (p.Asn540=) c.1036A= (p.Asn346=) c.*1500A= (n.*1500A=) c.1637A= (n.1637A=) c.1369A= (p.Asn457=) c.1495A= (p.Asn499=) c.1492A= (p.Asn498=) c.1531A= (p.Asn511=) c.448-13270A= (n.448-13270A=) c.*93+3159A= (n.*93+3159A=) n.2177A= c.1504A= (p.Asn502=) n.2100A= | |
| 22 | g.29681482A>C | CA411150086 | NF2 | c.1483A>C (p.Asn495His) c.*1112A>C (n.*1112A>C) c.1618A>C (p.Asn540His) c.1036A>C (p.Asn346His) c.*1500A>C (n.*1500A>C) c.1637A>C (n.1637A>C) c.1369A>C (p.Asn457His) c.1495A>C (p.Asn499His) c.1492A>C (p.Asn498His) c.1531A>C (p.Asn511His) c.448-13270A>C (n.448-13270A>C) c.*93+3159A>C (n.*93+3159A>C) n.2177A>C c.1504A>C (p.Asn502His) n.2100A>C | |
| 22 | g.29681482A>G | CA411150087 | NF2 | c.1483A>G (p.Asn495Asp) c.*1112A>G (n.*1112A>G) c.1618A>G (p.Asn540Asp) c.1036A>G (p.Asn346Asp) c.*1500A>G (n.*1500A>G) c.1637A>G (n.1637A>G) c.1369A>G (p.Asn457Asp) c.1495A>G (p.Asn499Asp) c.1492A>G (p.Asn498Asp) c.1531A>G (p.Asn511Asp) c.448-13270A>G (n.448-13270A>G) c.*93+3159A>G (n.*93+3159A>G) n.2177A>G c.1504A>G (p.Asn502Asp) n.2100A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 22 | g.29681482A>T | CA411150088 | NF2 | c.1483A>T (p.Asn495Tyr) c.*1112A>T (n.*1112A>T) c.1618A>T (p.Asn540Tyr) c.1036A>T (p.Asn346Tyr) c.*1500A>T (n.*1500A>T) c.1637A>T (n.1637A>T) c.1369A>T (p.Asn457Tyr) c.1495A>T (p.Asn499Tyr) c.1492A>T (p.Asn498Tyr) c.1531A>T (p.Asn511Tyr) c.448-13270A>T (n.448-13270A>T) c.*93+3159A>T (n.*93+3159A>T) n.2177A>T c.1504A>T (p.Asn502Tyr) n.2100A>T | |
| 22 | g.29681483A= | CA2400686813 | NF2 | c.1484A= (p.Asn495=) c.*1113A= (n.*1113A=) c.1619A= (p.Asn540=) c.1037A= (p.Asn346=) c.*1501A= (n.*1501A=) c.1638A= (n.1638A=) c.1370A= (p.Asn457=) c.1496A= (p.Asn499=) c.1493A= (p.Asn498=) c.1532A= (p.Asn511=) c.448-13269A= (n.448-13269A=) c.*93+3160A= (n.*93+3160A=) n.2178A= c.1505A= (p.Asn502=) n.2101A= | |
| 22 | g.29681483A>C | CA411150090 | NF2 | c.1484A>C (p.Asn495Thr) c.*1113A>C (n.*1113A>C) c.1619A>C (p.Asn540Thr) c.1037A>C (p.Asn346Thr) c.*1501A>C (n.*1501A>C) c.1638A>C (n.1638A>C) c.1370A>C (p.Asn457Thr) c.1496A>C (p.Asn499Thr) c.1493A>C (p.Asn498Thr) c.1532A>C (p.Asn511Thr) c.448-13269A>C (n.448-13269A>C) c.*93+3160A>C (n.*93+3160A>C) n.2178A>C c.1505A>C (p.Asn502Thr) n.2101A>C | |
| 22 | g.29681483A>G | CA032390 | NF2 | c.1484A>G (p.Asn495Ser) c.*1113A>G (n.*1113A>G) c.1619A>G (p.Asn540Ser) c.1037A>G (p.Asn346Ser) c.*1501A>G (n.*1501A>G) c.1638A>G (n.1638A>G) c.1370A>G (p.Asn457Ser) c.1496A>G (p.Asn499Ser) c.1493A>G (p.Asn498Ser) c.1532A>G (p.Asn511Ser) c.448-13269A>G (n.448-13269A>G) c.*93+3160A>G (n.*93+3160A>G) n.2178A>G c.1505A>G (p.Asn502Ser) n.2101A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.29681483A>T | CA411150089 | NF2 | c.1484A>T (p.Asn495Ile) c.*1113A>T (n.*1113A>T) c.1619A>T (p.Asn540Ile) c.1037A>T (p.Asn346Ile) c.*1501A>T (n.*1501A>T) c.1638A>T (n.1638A>T) c.1370A>T (p.Asn457Ile) c.1496A>T (p.Asn499Ile) c.1493A>T (p.Asn498Ile) c.1532A>T (p.Asn511Ile) c.448-13269A>T (n.448-13269A>T) c.*93+3160A>T (n.*93+3160A>T) n.2178A>T c.1505A>T (p.Asn502Ile) n.2101A>T | |
| 22 | g.29681484T>A | CA411150091 | NF2 | c.1485T>A (p.Asn495Lys) c.*1114T>A (n.*1114T>A) c.1620T>A (p.Asn540Lys) c.1038T>A (p.Asn346Lys) c.*1502T>A (n.*1502T>A) c.1639T>A (n.1639T>A) c.1371T>A (p.Asn457Lys) c.1497T>A (p.Asn499Lys) c.1494T>A (p.Asn498Lys) c.1533T>A (p.Asn511Lys) c.448-13268T>A (n.448-13268T>A) c.*93+3161T>A (n.*93+3161T>A) n.2179T>A c.1506T>A (p.Asn502Lys) n.2102T>A | |
| 22 | g.29681484T>C | CA514190389 | NF2 | c.1485T>C (p.Asn495=) c.*1114T>C (n.*1114T>C) c.1620T>C (p.Asn540=) c.1038T>C (p.Asn346=) c.*1502T>C (n.*1502T>C) c.1639T>C (n.1639T>C) c.1371T>C (p.Asn457=) c.1497T>C (p.Asn499=) c.1494T>C (p.Asn498=) c.1533T>C (p.Asn511=) c.448-13268T>C (n.448-13268T>C) c.*93+3161T>C (n.*93+3161T>C) n.2179T>C c.1506T>C (p.Asn502=) n.2102T>C | |
| 22 | g.29681484T>G | CA411150092 | NF2 | c.1485T>G (p.Asn495Lys) c.*1114T>G (n.*1114T>G) c.1620T>G (p.Asn540Lys) c.1038T>G (p.Asn346Lys) c.*1502T>G (n.*1502T>G) c.1639T>G (n.1639T>G) c.1371T>G (p.Asn457Lys) c.1497T>G (p.Asn499Lys) c.1494T>G (p.Asn498Lys) c.1533T>G (p.Asn511Lys) c.448-13268T>G (n.448-13268T>G) c.*93+3161T>G (n.*93+3161T>G) n.2179T>G c.1506T>G (p.Asn502Lys) n.2102T>G | |
| 22 | g.29681485del | CA514190390 | NF2 | c.1486del (p.Glu496AsnfsTer9) c.*1115del (n.*1115del) c.1621del (p.Glu541AsnfsTer9) c.1039del (p.Glu347AsnfsTer9) c.*1503del (n.*1503del) c.1640del (n.1640del) c.1372del (p.Glu458AsnfsTer9) c.1498del (p.Glu500AsnfsTer9) c.1495del (p.Glu499AsnfsTer9) c.1534del (p.Glu512AsnfsTer9) c.448-13267del (n.448-13267del) c.*93+3162del (n.*93+3162del) n.2180del c.1507del (p.Glu503AsnfsTer9) n.2103del | COSMIC |
| 22 | g.29681485G>A | CA411150093 | NF2 | c.1486G>A (p.Glu496Lys) c.*1115G>A (n.*1115G>A) c.1621G>A (p.Glu541Lys) c.1039G>A (p.Glu347Lys) c.*1503G>A (n.*1503G>A) c.1640G>A (n.1640G>A) c.1372G>A (p.Glu458Lys) c.1498G>A (p.Glu500Lys) c.1495G>A (p.Glu499Lys) c.1534G>A (p.Glu512Lys) c.448-13267G>A (n.448-13267G>A) c.*93+3162G>A (n.*93+3162G>A) n.2180G>A c.1507G>A (p.Glu503Lys) n.2103G>A | |
| 22 | g.29681485G>C | CA411150094 | NF2 | c.1486G>C (p.Glu496Gln) c.*1115G>C (n.*1115G>C) c.1621G>C (p.Glu541Gln) c.1039G>C (p.Glu347Gln) c.*1503G>C (n.*1503G>C) c.1640G>C (n.1640G>C) c.1372G>C (p.Glu458Gln) c.1498G>C (p.Glu500Gln) c.1495G>C (p.Glu499Gln) c.1534G>C (p.Glu512Gln) c.448-13267G>C (n.448-13267G>C) c.*93+3162G>C (n.*93+3162G>C) n.2180G>C c.1507G>C (p.Glu503Gln) n.2103G>C | |
| 22 | g.29681485G>T | CA411150095 | NF2 | c.1486G>T (p.Glu496Ter) c.*1115G>T (n.*1115G>T) c.1621G>T (p.Glu541Ter) c.1039G>T (p.Glu347Ter) c.*1503G>T (n.*1503G>T) c.1640G>T (n.1640G>T) c.1372G>T (p.Glu458Ter) c.1498G>T (p.Glu500Ter) c.1495G>T (p.Glu499Ter) c.1534G>T (p.Glu512Ter) c.448-13267G>T (n.448-13267G>T) c.*93+3162G>T (n.*93+3162G>T) n.2180G>T c.1507G>T (p.Glu503Ter) n.2103G>T | ClinVar dbSNP |
| 22 | g.29681486A>C | CA411150096 | NF2 | c.1487A>C (p.Glu496Ala) c.*1116A>C (n.*1116A>C) c.1622A>C (p.Glu541Ala) c.1040A>C (p.Glu347Ala) c.*1504A>C (n.*1504A>C) c.1641A>C (n.1641A>C) c.1373A>C (p.Glu458Ala) c.1499A>C (p.Glu500Ala) c.1496A>C (p.Glu499Ala) c.1535A>C (p.Glu512Ala) c.448-13266A>C (n.448-13266A>C) c.*93+3163A>C (n.*93+3163A>C) n.2181A>C c.1508A>C (p.Glu503Ala) n.2104A>C | |
| 22 | g.29681486A>G | CA411150098 | NF2 | c.1487A>G (p.Glu496Gly) c.*1116A>G (n.*1116A>G) c.1622A>G (p.Glu541Gly) c.1040A>G (p.Glu347Gly) c.*1504A>G (n.*1504A>G) c.1641A>G (n.1641A>G) c.1373A>G (p.Glu458Gly) c.1499A>G (p.Glu500Gly) c.1496A>G (p.Glu499Gly) c.1535A>G (p.Glu512Gly) c.448-13266A>G (n.448-13266A>G) c.*93+3163A>G (n.*93+3163A>G) n.2181A>G c.1508A>G (p.Glu503Gly) n.2104A>G | |
| 22 | g.29681486A>T | CA411150097 | NF2 | c.1487A>T (p.Glu496Val) c.*1116A>T (n.*1116A>T) c.1622A>T (p.Glu541Val) c.1040A>T (p.Glu347Val) c.*1504A>T (n.*1504A>T) c.1641A>T (n.1641A>T) c.1373A>T (p.Glu458Val) c.1499A>T (p.Glu500Val) c.1496A>T (p.Glu499Val) c.1535A>T (p.Glu512Val) c.448-13266A>T (n.448-13266A>T) c.*93+3163A>T (n.*93+3163A>T) n.2181A>T c.1508A>T (p.Glu503Val) n.2104A>T | |
| 22 | g.29681487A= | CA2400686814 | NF2 | c.1488A= (p.Glu496=) c.*1117A= (n.*1117A=) c.1623A= (p.Glu541=) c.1041A= (p.Glu347=) c.*1505A= (n.*1505A=) c.1642A= (n.1642A=) c.1374A= (p.Glu458=) c.1500A= (p.Glu500=) c.1497A= (p.Glu499=) c.1536A= (p.Glu512=) c.448-13265A= (n.448-13265A=) c.*93+3164A= (n.*93+3164A=) n.2182A= c.1509A= (p.Glu503=) n.2105A= | |
| 22 | g.29681487A>C | CA411150099 | NF2 | c.1488A>C (p.Glu496Asp) c.*1117A>C (n.*1117A>C) c.1623A>C (p.Glu541Asp) c.1041A>C (p.Glu347Asp) c.*1505A>C (n.*1505A>C) c.1642A>C (n.1642A>C) c.1374A>C (p.Glu458Asp) c.1500A>C (p.Glu500Asp) c.1497A>C (p.Glu499Asp) c.1536A>C (p.Glu512Asp) c.448-13265A>C (n.448-13265A>C) c.*93+3164A>C (n.*93+3164A>C) n.2182A>C c.1509A>C (p.Glu503Asp) n.2105A>C | ClinVar |
| 22 | g.29681487A>G | CA323120916 | NF2 | c.1488A>G (p.Glu496=) c.*1117A>G (n.*1117A>G) c.1623A>G (p.Glu541=) c.1041A>G (p.Glu347=) c.*1505A>G (n.*1505A>G) c.1642A>G (n.1642A>G) c.1374A>G (p.Glu458=) c.1500A>G (p.Glu500=) c.1497A>G (p.Glu499=) c.1536A>G (p.Glu512=) c.448-13265A>G (n.448-13265A>G) c.*93+3164A>G (n.*93+3164A>G) n.2182A>G c.1509A>G (p.Glu503=) n.2105A>G | dbSNP |
| 22 | g.29681487A>T | CA411150100 | NF2 | c.1488A>T (p.Glu496Asp) c.*1117A>T (n.*1117A>T) c.1623A>T (p.Glu541Asp) c.1041A>T (p.Glu347Asp) c.*1505A>T (n.*1505A>T) c.1642A>T (n.1642A>T) c.1374A>T (p.Glu458Asp) c.1500A>T (p.Glu500Asp) c.1497A>T (p.Glu499Asp) c.1536A>T (p.Glu512Asp) c.448-13265A>T (n.448-13265A>T) c.*93+3164A>T (n.*93+3164A>T) n.2182A>T c.1509A>T (p.Glu503Asp) n.2105A>T | |
| 22 | g.29681488C>A | CA411150101 | NF2 | c.1489C>A (p.Leu497Ile) c.*1118C>A (n.*1118C>A) c.1624C>A (p.Leu542Ile) c.1042C>A (p.Leu348Ile) c.*1506C>A (n.*1506C>A) c.1643C>A (n.1643C>A) c.1375C>A (p.Leu459Ile) c.1501C>A (p.Leu501Ile) c.1498C>A (p.Leu500Ile) c.1537C>A (p.Leu513Ile) c.448-13264C>A (n.448-13264C>A) c.*93+3165C>A (n.*93+3165C>A) n.2183C>A c.1510C>A (p.Leu504Ile) n.2106C>A | |
| 22 | g.29681488C= | CA2400686815 | NF2 | c.1489C= (p.Leu497=) c.*1118C= (n.*1118C=) c.1624C= (p.Leu542=) c.1042C= (p.Leu348=) c.*1506C= (n.*1506C=) c.1643C= (n.1643C=) c.1375C= (p.Leu459=) c.1501C= (p.Leu501=) c.1498C= (p.Leu500=) c.1537C= (p.Leu513=) c.448-13264C= (n.448-13264C=) c.*93+3165C= (n.*93+3165C=) n.2183C= c.1510C= (p.Leu504=) n.2106C= | |
| 22 | g.29681488C>G | CA411150102 | NF2 | c.1489C>G (p.Leu497Val) c.*1118C>G (n.*1118C>G) c.1624C>G (p.Leu542Val) c.1042C>G (p.Leu348Val) c.*1506C>G (n.*1506C>G) c.1643C>G (n.1643C>G) c.1375C>G (p.Leu459Val) c.1501C>G (p.Leu501Val) c.1498C>G (p.Leu500Val) c.1537C>G (p.Leu513Val) c.448-13264C>G (n.448-13264C>G) c.*93+3165C>G (n.*93+3165C>G) n.2183C>G c.1510C>G (p.Leu504Val) n.2106C>G | |
| 22 | g.29681488C>T | CA411150103 | NF2 | c.1489C>T (p.Leu497Phe) c.*1118C>T (n.*1118C>T) c.1624C>T (p.Leu542Phe) c.1042C>T (p.Leu348Phe) c.*1506C>T (n.*1506C>T) c.1643C>T (n.1643C>T) c.1375C>T (p.Leu459Phe) c.1501C>T (p.Leu501Phe) c.1498C>T (p.Leu500Phe) c.1537C>T (p.Leu513Phe) c.448-13264C>T (n.448-13264C>T) c.*93+3165C>T (n.*93+3165C>T) n.2183C>T c.1510C>T (p.Leu504Phe) n.2106C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |