WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.29681463_29681466del | CA2695230524 | NF2 | c.1464_1467del (p.Lys488AsnfsTer16) c.*1093_*1096del (n.*1093_*1096del) c.1599_1602del (p.Lys533AsnfsTer16) c.1017_1020del (p.Lys339AsnfsTer16) c.*1481_*1484del (n.*1481_*1484del) c.1618_1621del (n.1618_1621del) c.1350_1353del (p.Lys450AsnfsTer16) c.1476_1479del (p.Lys492AsnfsTer16) c.1473_1476del (p.Lys491AsnfsTer16) c.1512_1515del (p.Lys504AsnfsTer16) c.448-13289_448-13286del (n.448-13289_448-13286del) c.*93+3140_*93+3143del (n.*93+3140_*93+3143del) n.2158_2161del c.1485_1488del (p.Lys495AsnfsTer16) n.2081_2084del | |
| 22 | g.29681466T>A | CA411150051 | NF2 | c.1467T>A (p.His489Gln) c.*1096T>A (n.*1096T>A) c.1602T>A (p.His534Gln) c.1020T>A (p.His340Gln) c.*1484T>A (n.*1484T>A) c.1621T>A (n.1621T>A) c.1353T>A (p.His451Gln) c.1479T>A (p.His493Gln) c.1476T>A (p.His492Gln) c.1515T>A (p.His505Gln) c.448-13286T>A (n.448-13286T>A) c.*93+3143T>A (n.*93+3143T>A) n.2161T>A c.1488T>A (p.His496Gln) n.2084T>A | |
| 22 | g.29681466T>C | CA514190356 | NF2 | c.1467T>C (p.His489=) c.*1096T>C (n.*1096T>C) c.1602T>C (p.His534=) c.1020T>C (p.His340=) c.*1484T>C (n.*1484T>C) c.1621T>C (n.1621T>C) c.1353T>C (p.His451=) c.1479T>C (p.His493=) c.1476T>C (p.His492=) c.1515T>C (p.His505=) c.448-13286T>C (n.448-13286T>C) c.*93+3143T>C (n.*93+3143T>C) n.2161T>C c.1488T>C (p.His496=) n.2084T>C | |
| 22 | g.29681466T>G | CA411150052 | NF2 | c.1467T>G (p.His489Gln) c.*1096T>G (n.*1096T>G) c.1602T>G (p.His534Gln) c.1020T>G (p.His340Gln) c.*1484T>G (n.*1484T>G) c.1621T>G (n.1621T>G) c.1353T>G (p.His451Gln) c.1479T>G (p.His493Gln) c.1476T>G (p.His492Gln) c.1515T>G (p.His505Gln) c.448-13286T>G (n.448-13286T>G) c.*93+3143T>G (n.*93+3143T>G) n.2161T>G c.1488T>G (p.His496Gln) n.2084T>G | |
| 22 | g.29681467C>A | CA411150053 | NF2 | c.1468C>A (p.Leu490Met) c.*1097C>A (n.*1097C>A) c.1603C>A (p.Leu535Met) c.1021C>A (p.Leu341Met) c.*1485C>A (n.*1485C>A) c.1622C>A (n.1622C>A) c.1354C>A (p.Leu452Met) c.1480C>A (p.Leu494Met) c.1477C>A (p.Leu493Met) c.1516C>A (p.Leu506Met) c.448-13285C>A (n.448-13285C>A) c.*93+3144C>A (n.*93+3144C>A) n.2162C>A c.1489C>A (p.Leu497Met) n.2085C>A | |
| 22 | g.29681467C>G | CA411150054 | NF2 | c.1468C>G (p.Leu490Val) c.*1097C>G (n.*1097C>G) c.1603C>G (p.Leu535Val) c.1021C>G (p.Leu341Val) c.*1485C>G (n.*1485C>G) c.1622C>G (n.1622C>G) c.1354C>G (p.Leu452Val) c.1480C>G (p.Leu494Val) c.1477C>G (p.Leu493Val) c.1516C>G (p.Leu506Val) c.448-13285C>G (n.448-13285C>G) c.*93+3144C>G (n.*93+3144C>G) n.2162C>G c.1489C>G (p.Leu497Val) n.2085C>G | dbSNP |
| 22 | g.29681467C>T | CA514190357 | NF2 | c.1468C>T (p.Leu490=) c.*1097C>T (n.*1097C>T) c.1603C>T (p.Leu535=) c.1021C>T (p.Leu341=) c.*1485C>T (n.*1485C>T) c.1622C>T (n.1622C>T) c.1354C>T (p.Leu452=) c.1480C>T (p.Leu494=) c.1477C>T (p.Leu493=) c.1516C>T (p.Leu506=) c.448-13285C>T (n.448-13285C>T) c.*93+3144C>T (n.*93+3144C>T) n.2162C>T c.1489C>T (p.Leu497=) n.2085C>T | |
| 22 | g.29681468T>A | CA411150055 | NF2 | c.1469T>A (p.Leu490Gln) c.*1098T>A (n.*1098T>A) c.1604T>A (p.Leu535Gln) c.1022T>A (p.Leu341Gln) c.*1486T>A (n.*1486T>A) c.1623T>A (n.1623T>A) c.1355T>A (p.Leu452Gln) c.1481T>A (p.Leu494Gln) c.1478T>A (p.Leu493Gln) c.1517T>A (p.Leu506Gln) c.448-13284T>A (n.448-13284T>A) c.*93+3145T>A (n.*93+3145T>A) n.2163T>A c.1490T>A (p.Leu497Gln) n.2086T>A | |
| 22 | g.29681468T>C | CA021356 | NF2 | c.1469T>C (p.Leu490Pro) c.*1098T>C (n.*1098T>C) c.1604T>C (p.Leu535Pro) c.1022T>C (p.Leu341Pro) c.*1486T>C (n.*1486T>C) c.1623T>C (n.1623T>C) c.1355T>C (p.Leu452Pro) c.1481T>C (p.Leu494Pro) c.1478T>C (p.Leu493Pro) c.1517T>C (p.Leu506Pro) c.448-13284T>C (n.448-13284T>C) c.*93+3145T>C (n.*93+3145T>C) n.2163T>C c.1490T>C (p.Leu497Pro) n.2086T>C | ClinVar dbSNP |
| 22 | g.29681468T>G | CA411150056 | NF2 | c.1469T>G (p.Leu490Arg) c.*1098T>G (n.*1098T>G) c.1604T>G (p.Leu535Arg) c.1022T>G (p.Leu341Arg) c.*1486T>G (n.*1486T>G) c.1623T>G (n.1623T>G) c.1355T>G (p.Leu452Arg) c.1481T>G (p.Leu494Arg) c.1478T>G (p.Leu493Arg) c.1517T>G (p.Leu506Arg) c.448-13284T>G (n.448-13284T>G) c.*93+3145T>G (n.*93+3145T>G) n.2163T>G c.1490T>G (p.Leu497Arg) n.2086T>G | |
| 22 | g.29681468T= | CA2400686806 | NF2 | c.1469T= (p.Leu490=) c.*1098T= (n.*1098T=) c.1604T= (p.Leu535=) c.1022T= (p.Leu341=) c.*1486T= (n.*1486T=) c.1623T= (n.1623T=) c.1355T= (p.Leu452=) c.1481T= (p.Leu494=) c.1478T= (p.Leu493=) c.1517T= (p.Leu506=) c.448-13284T= (n.448-13284T=) c.*93+3145T= (n.*93+3145T=) n.2163T= c.1490T= (p.Leu497=) n.2086T= | |
| 22 | g.29681469G>A | CA514190359 | NF2 | c.1470G>A (p.Leu490=) c.*1099G>A (n.*1099G>A) c.1605G>A (p.Leu535=) c.1023G>A (p.Leu341=) c.*1487G>A (n.*1487G>A) c.1624G>A (n.1624G>A) c.1356G>A (p.Leu452=) c.1482G>A (p.Leu494=) c.1479G>A (p.Leu493=) c.1518G>A (p.Leu506=) c.448-13283G>A (n.448-13283G>A) c.*93+3146G>A (n.*93+3146G>A) n.2164G>A c.1491G>A (p.Leu497=) n.2087G>A | ClinVar dbSNP gnomAD v4 |
| 22 | g.29681469G>C | CA514190360 | NF2 | c.1470G>C (p.Leu490=) c.*1099G>C (n.*1099G>C) c.1605G>C (p.Leu535=) c.1023G>C (p.Leu341=) c.*1487G>C (n.*1487G>C) c.1624G>C (n.1624G>C) c.1356G>C (p.Leu452=) c.1482G>C (p.Leu494=) c.1479G>C (p.Leu493=) c.1518G>C (p.Leu506=) c.448-13283G>C (n.448-13283G>C) c.*93+3146G>C (n.*93+3146G>C) n.2164G>C c.1491G>C (p.Leu497=) n.2087G>C | |
| 22 | g.29681469G= | CA2400686807 | NF2 | c.1470G= (p.Leu490=) c.*1099G= (n.*1099G=) c.1605G= (p.Leu535=) c.1023G= (p.Leu341=) c.*1487G= (n.*1487G=) c.1624G= (n.1624G=) c.1356G= (p.Leu452=) c.1482G= (p.Leu494=) c.1479G= (p.Leu493=) c.1518G= (p.Leu506=) c.448-13283G= (n.448-13283G=) c.*93+3146G= (n.*93+3146G=) n.2164G= c.1491G= (p.Leu497=) n.2087G= | |
| 22 | g.29681469G>T | CA514190361 | NF2 | c.1470G>T (p.Leu490=) c.*1099G>T (n.*1099G>T) c.1605G>T (p.Leu535=) c.1023G>T (p.Leu341=) c.*1487G>T (n.*1487G>T) c.1624G>T (n.1624G>T) c.1356G>T (p.Leu452=) c.1482G>T (p.Leu494=) c.1479G>T (p.Leu493=) c.1518G>T (p.Leu506=) c.448-13283G>T (n.448-13283G>T) c.*93+3146G>T (n.*93+3146G>T) n.2164G>T c.1491G>T (p.Leu497=) n.2087G>T | ClinVar gnomAD v4 |
| 22 | g.29681473_29681478del | CA2573157892 | NF2 | c.1474_1479del (p.Glu492_Gln493del) c.*1103_*1108del (n.*1103_*1108del) c.1609_1614del (p.Glu537_Gln538del) c.1027_1032del (p.Glu343_Gln344del) c.*1491_*1496del (n.*1491_*1496del) c.1628_1633del (n.1628_1633del) c.1360_1365del (p.Glu454_Gln455del) c.1486_1491del (p.Glu496_Gln497del) c.1483_1488del (p.Glu495_Gln496del) c.1522_1527del (p.Glu508_Gln509del) c.448-13279_448-13274del (n.448-13279_448-13274del) c.*93+3150_*93+3155del (n.*93+3150_*93+3155del) n.2168_2173del c.1495_1500del (p.Glu499_Gln500del) n.2091_2096del | ClinVar dbSNP |
| 22 | g.29681470C>A | CA411150057 | NF2 | c.1471C>A (p.Gln491Lys) c.*1100C>A (n.*1100C>A) c.1606C>A (p.Gln536Lys) c.1024C>A (p.Gln342Lys) c.*1488C>A (n.*1488C>A) c.1625C>A (n.1625C>A) c.1357C>A (p.Gln453Lys) c.1483C>A (p.Gln495Lys) c.1480C>A (p.Gln494Lys) c.1519C>A (p.Gln507Lys) c.448-13282C>A (n.448-13282C>A) c.*93+3147C>A (n.*93+3147C>A) n.2165C>A c.1492C>A (p.Gln498Lys) n.2088C>A | |
| 22 | g.29681470C>G | CA411150058 | NF2 | c.1471C>G (p.Gln491Glu) c.*1100C>G (n.*1100C>G) c.1606C>G (p.Gln536Glu) c.1024C>G (p.Gln342Glu) c.*1488C>G (n.*1488C>G) c.1625C>G (n.1625C>G) c.1357C>G (p.Gln453Glu) c.1483C>G (p.Gln495Glu) c.1480C>G (p.Gln494Glu) c.1519C>G (p.Gln507Glu) c.448-13282C>G (n.448-13282C>G) c.*93+3147C>G (n.*93+3147C>G) n.2165C>G c.1492C>G (p.Gln498Glu) n.2088C>G | |
| 22 | g.29681470C>T | CA411150059 | NF2 | c.1471C>T (p.Gln491Ter) c.*1100C>T (n.*1100C>T) c.1606C>T (p.Gln536Ter) c.1024C>T (p.Gln342Ter) c.*1488C>T (n.*1488C>T) c.1625C>T (n.1625C>T) c.1357C>T (p.Gln453Ter) c.1483C>T (p.Gln495Ter) c.1480C>T (p.Gln494Ter) c.1519C>T (p.Gln507Ter) c.448-13282C>T (n.448-13282C>T) c.*93+3147C>T (n.*93+3147C>T) n.2165C>T c.1492C>T (p.Gln498Ter) n.2088C>T | ClinVar dbSNP |
| 22 | g.29681471A>C | CA411150062 | NF2 | c.1472A>C (p.Gln491Pro) c.*1101A>C (n.*1101A>C) c.1607A>C (p.Gln536Pro) c.1025A>C (p.Gln342Pro) c.*1489A>C (n.*1489A>C) c.1626A>C (n.1626A>C) c.1358A>C (p.Gln453Pro) c.1484A>C (p.Gln495Pro) c.1481A>C (p.Gln494Pro) c.1520A>C (p.Gln507Pro) c.448-13281A>C (n.448-13281A>C) c.*93+3148A>C (n.*93+3148A>C) n.2166A>C c.1493A>C (p.Gln498Pro) n.2089A>C | |
| 22 | g.29681471A>G | CA411150060 | NF2 | c.1472A>G (p.Gln491Arg) c.*1101A>G (n.*1101A>G) c.1607A>G (p.Gln536Arg) c.1025A>G (p.Gln342Arg) c.*1489A>G (n.*1489A>G) c.1626A>G (n.1626A>G) c.1358A>G (p.Gln453Arg) c.1484A>G (p.Gln495Arg) c.1481A>G (p.Gln494Arg) c.1520A>G (p.Gln507Arg) c.448-13281A>G (n.448-13281A>G) c.*93+3148A>G (n.*93+3148A>G) n.2166A>G c.1493A>G (p.Gln498Arg) n.2089A>G | |
| 22 | g.29681471A>T | CA411150061 | NF2 | c.1472A>T (p.Gln491Leu) c.*1101A>T (n.*1101A>T) c.1607A>T (p.Gln536Leu) c.1025A>T (p.Gln342Leu) c.*1489A>T (n.*1489A>T) c.1626A>T (n.1626A>T) c.1358A>T (p.Gln453Leu) c.1484A>T (p.Gln495Leu) c.1481A>T (p.Gln494Leu) c.1520A>T (p.Gln507Leu) c.448-13281A>T (n.448-13281A>T) c.*93+3148A>T (n.*93+3148A>T) n.2166A>T c.1493A>T (p.Gln498Leu) n.2089A>T | |
| 22 | g.29681471_29681474delinsCT | CA2695230525 | NF2 | c.1472_1475delinsCT (p.Gln491ProfsTer5) c.*1101_*1104delinsCT (n.*1101_*1104delinsCT) c.1607_1610delinsCT (p.Gln536ProfsTer5) c.1025_1028delinsCT (p.Gln342ProfsTer5) c.*1489_*1492delinsCT (n.*1489_*1492delinsCT) c.1626_1629delinsCT (n.1626_1629delinsCT) c.1358_1361delinsCT (p.Gln453ProfsTer5) c.1484_1487delinsCT (p.Gln495ProfsTer5) c.1481_1484delinsCT (p.Gln494ProfsTer5) c.1520_1523delinsCT (p.Gln507ProfsTer5) c.448-13281_448-13278delinsCT (n.448-13281_448-13278delinsCT) c.*93+3148_*93+3151delinsCT (n.*93+3148_*93+3151delinsCT) n.2166_2169delinsCT c.1493_1496delinsCT (p.Gln498ProfsTer5) n.2089_2092delinsCT | |
| 22 | g.29681472G>A | CA514190363 | NF2 | c.1473G>A (p.Gln491=) c.*1102G>A (n.*1102G>A) c.1608G>A (p.Gln536=) c.1026G>A (p.Gln342=) c.*1490G>A (n.*1490G>A) c.1627G>A (n.1627G>A) c.1359G>A (p.Gln453=) c.1485G>A (p.Gln495=) c.1482G>A (p.Gln494=) c.1521G>A (p.Gln507=) c.448-13280G>A (n.448-13280G>A) c.*93+3149G>A (n.*93+3149G>A) n.2167G>A c.1494G>A (p.Gln498=) n.2090G>A | ClinVar gnomAD v4 |
| 22 | g.29681472G>C | CA411150063 | NF2 | c.1473G>C (p.Gln491His) c.*1102G>C (n.*1102G>C) c.1608G>C (p.Gln536His) c.1026G>C (p.Gln342His) c.*1490G>C (n.*1490G>C) c.1627G>C (n.1627G>C) c.1359G>C (p.Gln453His) c.1485G>C (p.Gln495His) c.1482G>C (p.Gln494His) c.1521G>C (p.Gln507His) c.448-13280G>C (n.448-13280G>C) c.*93+3149G>C (n.*93+3149G>C) n.2167G>C c.1494G>C (p.Gln498His) n.2090G>C | ClinVar |
| 22 | g.29681472G>T | CA411150064 | NF2 | c.1473G>T (p.Gln491His) c.*1102G>T (n.*1102G>T) c.1608G>T (p.Gln536His) c.1026G>T (p.Gln342His) c.*1490G>T (n.*1490G>T) c.1627G>T (n.1627G>T) c.1359G>T (p.Gln453His) c.1485G>T (p.Gln495His) c.1482G>T (p.Gln494His) c.1521G>T (p.Gln507His) c.448-13280G>T (n.448-13280G>T) c.*93+3149G>T (n.*93+3149G>T) n.2167G>T c.1494G>T (p.Gln498His) n.2090G>T | |
| 22 | g.29681473del | CA2695230526 | NF2 | c.1474del (p.Glu492SerfsTer13) c.*1103del (n.*1103del) c.1609del (p.Glu537SerfsTer13) c.1027del (p.Glu343SerfsTer13) c.*1491del (n.*1491del) c.1628del (n.1628del) c.1360del (p.Glu454SerfsTer13) c.1486del (p.Glu496SerfsTer13) c.1483del (p.Glu495SerfsTer13) c.1522del (p.Glu508SerfsTer13) c.448-13279del (n.448-13279del) c.*93+3150del (n.*93+3150del) n.2168del c.1495del (p.Glu499SerfsTer13) n.2091del | |
| 22 | g.29681473G>A | CA411150065 | NF2 | c.1474G>A (p.Glu492Lys) c.*1103G>A (n.*1103G>A) c.1609G>A (p.Glu537Lys) c.1027G>A (p.Glu343Lys) c.*1491G>A (n.*1491G>A) c.1628G>A (n.1628G>A) c.1360G>A (p.Glu454Lys) c.1486G>A (p.Glu496Lys) c.1483G>A (p.Glu495Lys) c.1522G>A (p.Glu508Lys) c.448-13279G>A (n.448-13279G>A) c.*93+3150G>A (n.*93+3150G>A) n.2168G>A c.1495G>A (p.Glu499Lys) n.2091G>A | ClinVar gnomAD v4 |
| 22 | g.29681473G>C | CA411150066 | NF2 | c.1474G>C (p.Glu492Gln) c.*1103G>C (n.*1103G>C) c.1609G>C (p.Glu537Gln) c.1027G>C (p.Glu343Gln) c.*1491G>C (n.*1491G>C) c.1628G>C (n.1628G>C) c.1360G>C (p.Glu454Gln) c.1486G>C (p.Glu496Gln) c.1483G>C (p.Glu495Gln) c.1522G>C (p.Glu508Gln) c.448-13279G>C (n.448-13279G>C) c.*93+3150G>C (n.*93+3150G>C) n.2168G>C c.1495G>C (p.Glu499Gln) n.2091G>C | ClinVar |
| 22 | g.29681473G>T | CA411150067 | NF2 | c.1474G>T (p.Glu492Ter) c.*1103G>T (n.*1103G>T) c.1609G>T (p.Glu537Ter) c.1027G>T (p.Glu343Ter) c.*1491G>T (n.*1491G>T) c.1628G>T (n.1628G>T) c.1360G>T (p.Glu454Ter) c.1486G>T (p.Glu496Ter) c.1483G>T (p.Glu495Ter) c.1522G>T (p.Glu508Ter) c.448-13279G>T (n.448-13279G>T) c.*93+3150G>T (n.*93+3150G>T) n.2168G>T c.1495G>T (p.Glu499Ter) n.2091G>T | COSMIC |
| 22 | g.29681474A>C | CA411150068 | NF2 | c.1475A>C (p.Glu492Ala) c.*1104A>C (n.*1104A>C) c.1610A>C (p.Glu537Ala) c.1028A>C (p.Glu343Ala) c.*1492A>C (n.*1492A>C) c.1629A>C (n.1629A>C) c.1361A>C (p.Glu454Ala) c.1487A>C (p.Glu496Ala) c.1484A>C (p.Glu495Ala) c.1523A>C (p.Glu508Ala) c.448-13278A>C (n.448-13278A>C) c.*93+3151A>C (n.*93+3151A>C) n.2169A>C c.1496A>C (p.Glu499Ala) n.2092A>C | ClinVar dbSNP |
| 22 | g.29681474A>G | CA411150070 | NF2 | c.1475A>G (p.Glu492Gly) c.*1104A>G (n.*1104A>G) c.1610A>G (p.Glu537Gly) c.1028A>G (p.Glu343Gly) c.*1492A>G (n.*1492A>G) c.1629A>G (n.1629A>G) c.1361A>G (p.Glu454Gly) c.1487A>G (p.Glu496Gly) c.1484A>G (p.Glu495Gly) c.1523A>G (p.Glu508Gly) c.448-13278A>G (n.448-13278A>G) c.*93+3151A>G (n.*93+3151A>G) n.2169A>G c.1496A>G (p.Glu499Gly) n.2092A>G | |
| 22 | g.29681474A>T | CA411150069 | NF2 | c.1475A>T (p.Glu492Val) c.*1104A>T (n.*1104A>T) c.1610A>T (p.Glu537Val) c.1028A>T (p.Glu343Val) c.*1492A>T (n.*1492A>T) c.1629A>T (n.1629A>T) c.1361A>T (p.Glu454Val) c.1487A>T (p.Glu496Val) c.1484A>T (p.Glu495Val) c.1523A>T (p.Glu508Val) c.448-13278A>T (n.448-13278A>T) c.*93+3151A>T (n.*93+3151A>T) n.2169A>T c.1496A>T (p.Glu499Val) n.2092A>T | |
| 22 | g.29681475G>A | CA323120904 | NF2 | c.1476G>A (p.Glu492=) c.*1105G>A (n.*1105G>A) c.1611G>A (p.Glu537=) c.1029G>A (p.Glu343=) c.*1493G>A (n.*1493G>A) c.1630G>A (n.1630G>A) c.1362G>A (p.Glu454=) c.1488G>A (p.Glu496=) c.1485G>A (p.Glu495=) c.1524G>A (p.Glu508=) c.448-13277G>A (n.448-13277G>A) c.*93+3152G>A (n.*93+3152G>A) n.2170G>A c.1497G>A (p.Glu499=) n.2093G>A | dbSNP |
| 22 | g.29681475G>C | CA411150071 | NF2 | c.1476G>C (p.Glu492Asp) c.*1105G>C (n.*1105G>C) c.1611G>C (p.Glu537Asp) c.1029G>C (p.Glu343Asp) c.*1493G>C (n.*1493G>C) c.1630G>C (n.1630G>C) c.1362G>C (p.Glu454Asp) c.1488G>C (p.Glu496Asp) c.1485G>C (p.Glu495Asp) c.1524G>C (p.Glu508Asp) c.448-13277G>C (n.448-13277G>C) c.*93+3152G>C (n.*93+3152G>C) n.2170G>C c.1497G>C (p.Glu499Asp) n.2093G>C | |
| 22 | g.29681475G= | CA2400686808 | NF2 | c.1476G= (p.Glu492=) c.*1105G= (n.*1105G=) c.1611G= (p.Glu537=) c.1029G= (p.Glu343=) c.*1493G= (n.*1493G=) c.1630G= (n.1630G=) c.1362G= (p.Glu454=) c.1488G= (p.Glu496=) c.1485G= (p.Glu495=) c.1524G= (p.Glu508=) c.448-13277G= (n.448-13277G=) c.*93+3152G= (n.*93+3152G=) n.2170G= c.1497G= (p.Glu499=) n.2093G= | |
| 22 | g.29681475G>T | CA411150072 | NF2 | c.1476G>T (p.Glu492Asp) c.*1105G>T (n.*1105G>T) c.1611G>T (p.Glu537Asp) c.1029G>T (p.Glu343Asp) c.*1493G>T (n.*1493G>T) c.1630G>T (n.1630G>T) c.1362G>T (p.Glu454Asp) c.1488G>T (p.Glu496Asp) c.1485G>T (p.Glu495Asp) c.1524G>T (p.Glu508Asp) c.448-13277G>T (n.448-13277G>T) c.*93+3152G>T (n.*93+3152G>T) n.2170G>T c.1497G>T (p.Glu499Asp) n.2093G>T | ClinVar dbSNP |
| 22 | g.29681475_29681515del | CA2695230527 | NF2 | c.1476_1516del (p.Glu492AspfsTer14) c.*1105_*1145del (n.*1105_*1145del) c.1611_1651del (p.Glu537AspfsTer14) c.1029_1069del (p.Glu343AspfsTer14) c.*1493_*1533del (n.*1493_*1533del) c.1630_1670del (n.1630_1670del) c.1362_1402del (p.Glu454AspfsTer14) c.1488_1528del (p.Glu496AspfsTer14) c.1485_1525del (p.Glu495AspfsTer14) c.1524_1564del (p.Glu508AspfsTer14) c.448-13277_448-13237del (n.448-13277_448-13237del) c.*93+3152_*93+3192del (n.*93+3152_*93+3192del) n.2170_2210del c.1497_1537del (p.Glu499AspfsTer14) n.2093_2133del | |
| 22 | g.29681476C>A | CA411150073 | NF2 | c.1477C>A (p.Gln493Lys) c.*1106C>A (n.*1106C>A) c.1612C>A (p.Gln538Lys) c.1030C>A (p.Gln344Lys) c.*1494C>A (n.*1494C>A) c.1631C>A (n.1631C>A) c.1363C>A (p.Gln455Lys) c.1489C>A (p.Gln497Lys) c.1486C>A (p.Gln496Lys) c.1525C>A (p.Gln509Lys) c.448-13276C>A (n.448-13276C>A) c.*93+3153C>A (n.*93+3153C>A) n.2171C>A c.1498C>A (p.Gln500Lys) n.2094C>A | |
| 22 | g.29681476C>G | CA411150074 | NF2 | c.1477C>G (p.Gln493Glu) c.*1106C>G (n.*1106C>G) c.1612C>G (p.Gln538Glu) c.1030C>G (p.Gln344Glu) c.*1494C>G (n.*1494C>G) c.1631C>G (n.1631C>G) c.1363C>G (p.Gln455Glu) c.1489C>G (p.Gln497Glu) c.1486C>G (p.Gln496Glu) c.1525C>G (p.Gln509Glu) c.448-13276C>G (n.448-13276C>G) c.*93+3153C>G (n.*93+3153C>G) n.2171C>G c.1498C>G (p.Gln500Glu) n.2094C>G | |
| 22 | g.29681476C>T | CA411150075 | NF2 | c.1477C>T (p.Gln493Ter) c.*1106C>T (n.*1106C>T) c.1612C>T (p.Gln538Ter) c.1030C>T (p.Gln344Ter) c.*1494C>T (n.*1494C>T) c.1631C>T (n.1631C>T) c.1363C>T (p.Gln455Ter) c.1489C>T (p.Gln497Ter) c.1486C>T (p.Gln496Ter) c.1525C>T (p.Gln509Ter) c.448-13276C>T (n.448-13276C>T) c.*93+3153C>T (n.*93+3153C>T) n.2171C>T c.1498C>T (p.Gln500Ter) n.2094C>T | ClinVar dbSNP COSMIC |
| 22 | g.29681477A= | CA2400686809 | NF2 | c.1478A= (p.Gln493=) c.*1107A= (n.*1107A=) c.1613A= (p.Gln538=) c.1031A= (p.Gln344=) c.*1495A= (n.*1495A=) c.1632A= (n.1632A=) c.1364A= (p.Gln455=) c.1490A= (p.Gln497=) c.1487A= (p.Gln496=) c.1526A= (p.Gln509=) c.448-13275A= (n.448-13275A=) c.*93+3154A= (n.*93+3154A=) n.2172A= c.1499A= (p.Gln500=) n.2095A= | |
| 22 | g.29681477A>C | CA021363 | NF2 | c.1478A>C (p.Gln493Pro) c.*1107A>C (n.*1107A>C) c.1613A>C (p.Gln538Pro) c.1031A>C (p.Gln344Pro) c.*1495A>C (n.*1495A>C) c.1632A>C (n.1632A>C) c.1364A>C (p.Gln455Pro) c.1490A>C (p.Gln497Pro) c.1487A>C (p.Gln496Pro) c.1526A>C (p.Gln509Pro) c.448-13275A>C (n.448-13275A>C) c.*93+3154A>C (n.*93+3154A>C) n.2172A>C c.1499A>C (p.Gln500Pro) n.2095A>C | ClinVar dbSNP |
| 22 | g.29681477A>G | CA411150076 | NF2 | c.1478A>G (p.Gln493Arg) c.*1107A>G (n.*1107A>G) c.1613A>G (p.Gln538Arg) c.1031A>G (p.Gln344Arg) c.*1495A>G (n.*1495A>G) c.1632A>G (n.1632A>G) c.1364A>G (p.Gln455Arg) c.1490A>G (p.Gln497Arg) c.1487A>G (p.Gln496Arg) c.1526A>G (p.Gln509Arg) c.448-13275A>G (n.448-13275A>G) c.*93+3154A>G (n.*93+3154A>G) n.2172A>G c.1499A>G (p.Gln500Arg) n.2095A>G | |
| 22 | g.29681477A>T | CA411150077 | NF2 | c.1478A>T (p.Gln493Leu) c.*1107A>T (n.*1107A>T) c.1613A>T (p.Gln538Leu) c.1031A>T (p.Gln344Leu) c.*1495A>T (n.*1495A>T) c.1632A>T (n.1632A>T) c.1364A>T (p.Gln455Leu) c.1490A>T (p.Gln497Leu) c.1487A>T (p.Gln496Leu) c.1526A>T (p.Gln509Leu) c.448-13275A>T (n.448-13275A>T) c.*93+3154A>T (n.*93+3154A>T) n.2172A>T c.1499A>T (p.Gln500Leu) n.2095A>T | |
| 22 | g.29681477dup | CA2499226115 | NF2 | c.1478dup (p.Leu494AlafsTer3) c.*1107dup (n.*1107dup) c.1613dup (p.Leu539AlafsTer3) c.1031dup (p.Leu345AlafsTer3) c.*1495dup (n.*1495dup) c.1632dup (n.1632dup) c.1364dup (p.Leu456AlafsTer3) c.1490dup (p.Leu498AlafsTer3) c.1487dup (p.Leu497AlafsTer3) c.1526dup (p.Leu510AlafsTer3) c.448-13275dup (n.448-13275dup) c.*93+3154dup (n.*93+3154dup) n.2172dup c.1499dup (p.Leu501AlafsTer3) n.2095dup | ClinVar dbSNP |
| 22 | g.29681478del | CA514190378 | NF2 | c.1479del (p.Gln493HisfsTer12) c.*1108del (n.*1108del) c.1614del (p.Gln538HisfsTer12) c.1032del (p.Gln344HisfsTer12) c.*1496del (n.*1496del) c.1633del (n.1633del) c.1365del (p.Gln455HisfsTer12) c.1491del (p.Gln497HisfsTer12) c.1488del (p.Gln496HisfsTer12) c.1527del (p.Gln509HisfsTer12) c.448-13274del (n.448-13274del) c.*93+3155del (n.*93+3155del) n.2173del c.1500del (p.Gln500HisfsTer12) n.2096del | COSMIC |
| 22 | g.29681478G>A | CA514190376 | NF2 | c.1479G>A (p.Gln493=) c.*1108G>A (n.*1108G>A) c.1614G>A (p.Gln538=) c.1032G>A (p.Gln344=) c.*1496G>A (n.*1496G>A) c.1633G>A (n.1633G>A) c.1365G>A (p.Gln455=) c.1491G>A (p.Gln497=) c.1488G>A (p.Gln496=) c.1527G>A (p.Gln509=) c.448-13274G>A (n.448-13274G>A) c.*93+3155G>A (n.*93+3155G>A) n.2173G>A c.1500G>A (p.Gln500=) n.2096G>A | ClinVar dbSNP |
| 22 | g.29681478G>C | CA411150078 | NF2 | c.1479G>C (p.Gln493His) c.*1108G>C (n.*1108G>C) c.1614G>C (p.Gln538His) c.1032G>C (p.Gln344His) c.*1496G>C (n.*1496G>C) c.1633G>C (n.1633G>C) c.1365G>C (p.Gln455His) c.1491G>C (p.Gln497His) c.1488G>C (p.Gln496His) c.1527G>C (p.Gln509His) c.448-13274G>C (n.448-13274G>C) c.*93+3155G>C (n.*93+3155G>C) n.2173G>C c.1500G>C (p.Gln500His) n.2096G>C |