| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.29674837_29678324del | CA16040594 | NF2 | c.1207_1439+1del c.*836_*1068+1del c.1342_1574+1del c.760_992+1del c.*1224_*1456+1del c.1361_1593+1del c.1093_1325+1del c.1219_1451+1del c.1216_1448+1del c.1255_1487+1del c.448-19915_448-16428del (n.448-19915_448-16428del) c.524_*93+1del n.1901_2133+1del c.1228_1460+1del n.1824_2056+1del | |
| 22 | g.29678196_29678320del | CA645601188 | NF2 | c.1312_1436del (p.Pro438LysfsTer17) c.*941_*1065del (n.*941_*1065del) c.1447_1571del (p.Pro483LysfsTer17) c.865_989del (p.Pro289LysfsTer17) c.*1329_*1453del (n.*1329_*1453del) c.1466_1590del (n.1466_1590del) c.1198_1322del (p.Pro400LysfsTer17) c.1324_1448del (p.Pro442LysfsTer17) c.1321_1445del (p.Pro441LysfsTer17) c.1360_1484del (p.Pro454LysfsTer17) c.448-16556_448-16432del (n.448-16556_448-16432del) c.629_*90del (n.[c.629_*90del;Ala210GlufsTer15]) n.2006_2130del c.1333_1457del (p.Pro445LysfsTer17) n.1929_2053del | COSMIC |
| 22 | g.29678264_29678281delinsT | CA2739289575 | NF2 | c.1380_1397delinsT (p.Ser461TyrfsTer2) c.*1009_*1026delinsT (n.*1009_*1026delinsT) c.1515_1532delinsT (p.Ser506TyrfsTer2) c.933_950delinsT (p.Ser312TyrfsTer2) c.*1397_*1414delinsT (n.*1397_*1414delinsT) c.1534_1551delinsT (n.1534_1551delinsT) c.1266_1283delinsT (p.Ser423TyrfsTer2) c.1392_1409delinsT (p.Ser465TyrfsTer2) c.1389_1406delinsT (p.Ser464TyrfsTer2) c.1428_1445delinsT (p.Ser477TyrfsTer2) c.448-16488_448-16471delinsT (n.448-16488_448-16471delinsT) c.*34_*51delinsT (n.*34_*51delinsT) n.2074_2091delinsT c.1401_1418delinsT (p.Ser468TyrfsTer2) n.1997_2014delinsT | |
| 22 | g.29678278A= | CA2400685431 | NF2 | c.1394A= (p.Lys465=) c.*1023A= (n.*1023A=) c.1529A= (p.Lys510=) c.947A= (p.Lys316=) c.*1411A= (n.*1411A=) c.1548A= (n.1548A=) c.1280A= (p.Lys427=) c.1406A= (p.Lys469=) c.1403A= (p.Lys468=) c.1442A= (p.Lys481=) c.448-16474A= (n.448-16474A=) c.*48A= (n.*48A=) n.2088A= c.1415A= (p.Lys472=) n.2011A= | |
| 22 | g.29678278A>C | CA411149713 | NF2 | c.1394A>C (p.Lys465Thr) c.*1023A>C (n.*1023A>C) c.1529A>C (p.Lys510Thr) c.947A>C (p.Lys316Thr) c.*1411A>C (n.*1411A>C) c.1548A>C (n.1548A>C) c.1280A>C (p.Lys427Thr) c.1406A>C (p.Lys469Thr) c.1403A>C (p.Lys468Thr) c.1442A>C (p.Lys481Thr) c.448-16474A>C (n.448-16474A>C) c.*48A>C (n.*48A>C) n.2088A>C c.1415A>C (p.Lys472Thr) n.2011A>C | |
| 22 | g.29678278A>G | CA10653290 | NF2 | c.1394A>G (p.Lys465Arg) c.*1023A>G (n.*1023A>G) c.1529A>G (p.Lys510Arg) c.947A>G (p.Lys316Arg) c.*1411A>G (n.*1411A>G) c.1548A>G (n.1548A>G) c.1280A>G (p.Lys427Arg) c.1406A>G (p.Lys469Arg) c.1403A>G (p.Lys468Arg) c.1442A>G (p.Lys481Arg) c.448-16474A>G (n.448-16474A>G) c.*48A>G (n.*48A>G) n.2088A>G c.1415A>G (p.Lys472Arg) n.2011A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.29678278A>T | CA411149714 | NF2 | c.1394A>T (p.Lys465Ile) c.*1023A>T (n.*1023A>T) c.1529A>T (p.Lys510Ile) c.947A>T (p.Lys316Ile) c.*1411A>T (n.*1411A>T) c.1548A>T (n.1548A>T) c.1280A>T (p.Lys427Ile) c.1406A>T (p.Lys469Ile) c.1403A>T (p.Lys468Ile) c.1442A>T (p.Lys481Ile) c.448-16474A>T (n.448-16474A>T) c.*48A>T (n.*48A>T) n.2088A>T c.1415A>T (p.Lys472Ile) n.2011A>T | ClinVar |
| 22 | g.29678279A>C | CA411149715 | NF2 | c.1395A>C (p.Lys465Asn) c.*1024A>C (n.*1024A>C) c.1530A>C (p.Lys510Asn) c.948A>C (p.Lys316Asn) c.*1412A>C (n.*1412A>C) c.1549A>C (n.1549A>C) c.1281A>C (p.Lys427Asn) c.1407A>C (p.Lys469Asn) c.1404A>C (p.Lys468Asn) c.1443A>C (p.Lys481Asn) c.448-16473A>C (n.448-16473A>C) c.*49A>C (n.*49A>C) n.2089A>C c.1416A>C (p.Lys472Asn) n.2012A>C | |
| 22 | g.29678279A>G | CA514188915 | NF2 | c.1395A>G (p.Lys465=) c.*1024A>G (n.*1024A>G) c.1530A>G (p.Lys510=) c.948A>G (p.Lys316=) c.*1412A>G (n.*1412A>G) c.1549A>G (n.1549A>G) c.1281A>G (p.Lys427=) c.1407A>G (p.Lys469=) c.1404A>G (p.Lys468=) c.1443A>G (p.Lys481=) c.448-16473A>G (n.448-16473A>G) c.*49A>G (n.*49A>G) n.2089A>G c.1416A>G (p.Lys472=) n.2012A>G | |
| 22 | g.29678279A>T | CA411149716 | NF2 | c.1395A>T (p.Lys465Asn) c.*1024A>T (n.*1024A>T) c.1530A>T (p.Lys510Asn) c.948A>T (p.Lys316Asn) c.*1412A>T (n.*1412A>T) c.1549A>T (n.1549A>T) c.1281A>T (p.Lys427Asn) c.1407A>T (p.Lys469Asn) c.1404A>T (p.Lys468Asn) c.1443A>T (p.Lys481Asn) c.448-16473A>T (n.448-16473A>T) c.*49A>T (n.*49A>T) n.2089A>T c.1416A>T (p.Lys472Asn) n.2012A>T | |
| 22 | g.29678280G>A | CA411149717 | NF2 | c.1396G>A (p.Asp466Asn) c.*1025G>A (n.*1025G>A) c.1531G>A (p.Asp511Asn) c.949G>A (p.Asp317Asn) c.*1413G>A (n.*1413G>A) c.1550G>A (n.1550G>A) c.1282G>A (p.Asp428Asn) c.1408G>A (p.Asp470Asn) c.1405G>A (p.Asp469Asn) c.1444G>A (p.Asp482Asn) c.448-16472G>A (n.448-16472G>A) c.*50G>A (n.*50G>A) n.2090G>A c.1417G>A (p.Asp473Asn) n.2013G>A | |
| 22 | g.29678280G>C | CA411149719 | NF2 | c.1396G>C (p.Asp466His) c.*1025G>C (n.*1025G>C) c.1531G>C (p.Asp511His) c.949G>C (p.Asp317His) c.*1413G>C (n.*1413G>C) c.1550G>C (n.1550G>C) c.1282G>C (p.Asp428His) c.1408G>C (p.Asp470His) c.1405G>C (p.Asp469His) c.1444G>C (p.Asp482His) c.448-16472G>C (n.448-16472G>C) c.*50G>C (n.*50G>C) n.2090G>C c.1417G>C (p.Asp473His) n.2013G>C | |
| 22 | g.29678280G>T | CA411149718 | NF2 | c.1396G>T (p.Asp466Tyr) c.*1025G>T (n.*1025G>T) c.1531G>T (p.Asp511Tyr) c.949G>T (p.Asp317Tyr) c.*1413G>T (n.*1413G>T) c.1550G>T (n.1550G>T) c.1282G>T (p.Asp428Tyr) c.1408G>T (p.Asp470Tyr) c.1405G>T (p.Asp469Tyr) c.1444G>T (p.Asp482Tyr) c.448-16472G>T (n.448-16472G>T) c.*50G>T (n.*50G>T) n.2090G>T c.1417G>T (p.Asp473Tyr) n.2013G>T | gnomAD v4 |
| 22 | g.29678280_29678312delinsAATAC | CA645601201 | NF2 | c.1396_1428delinsAATAC (p.Asp466AsnfsTer30) c.*1025_*1057delinsAATAC (n.*1025_*1057delinsAATAC) c.1531_1563delinsAATAC (p.Asp511AsnfsTer30) c.949_981delinsAATAC (p.Asp317AsnfsTer30) c.*1413_*1445delinsAATAC (n.*1413_*1445delinsAATAC) c.1550_1582delinsAATAC (n.1550_1582delinsAATAC) c.1282_1314delinsAATAC (p.Asp428AsnfsTer30) c.1408_1440delinsAATAC (p.Asp470AsnfsTer30) c.1405_1437delinsAATAC (p.Asp469AsnfsTer30) c.1444_1476delinsAATAC (p.Asp482AsnfsTer30) c.448-16472_448-16440delinsAATAC (n.448-16472_448-16440delinsAATAC) c.*50_*82delinsAATAC (n.*50_*82delinsAATAC) n.2090_2122delinsAATAC c.1417_1449delinsAATAC (p.Asp473AsnfsTer30) n.2013_2045delinsAATAC | COSMIC |
| 22 | g.29678281A= | CA2400685432 | NF2 | c.1397A= (p.Asp466=) c.*1026A= (n.*1026A=) c.1532A= (p.Asp511=) c.950A= (p.Asp317=) c.*1414A= (n.*1414A=) c.1551A= (n.1551A=) c.1283A= (p.Asp428=) c.1409A= (p.Asp470=) c.1406A= (p.Asp469=) c.1445A= (p.Asp482=) c.448-16471A= (n.448-16471A=) c.*51A= (n.*51A=) n.2091A= c.1418A= (p.Asp473=) n.2014A= | |
| 22 | g.29678281A>C | CA411149720 | NF2 | c.1397A>C (p.Asp466Ala) c.*1026A>C (n.*1026A>C) c.1532A>C (p.Asp511Ala) c.950A>C (p.Asp317Ala) c.*1414A>C (n.*1414A>C) c.1551A>C (n.1551A>C) c.1283A>C (p.Asp428Ala) c.1409A>C (p.Asp470Ala) c.1406A>C (p.Asp469Ala) c.1445A>C (p.Asp482Ala) c.448-16471A>C (n.448-16471A>C) c.*51A>C (n.*51A>C) n.2091A>C c.1418A>C (p.Asp473Ala) n.2014A>C | |
| 22 | g.29678281A>G | CA411149721 | NF2 | c.1397A>G (p.Asp466Gly) c.*1026A>G (n.*1026A>G) c.1532A>G (p.Asp511Gly) c.950A>G (p.Asp317Gly) c.*1414A>G (n.*1414A>G) c.1551A>G (n.1551A>G) c.1283A>G (p.Asp428Gly) c.1409A>G (p.Asp470Gly) c.1406A>G (p.Asp469Gly) c.1445A>G (p.Asp482Gly) c.448-16471A>G (n.448-16471A>G) c.*51A>G (n.*51A>G) n.2091A>G c.1418A>G (p.Asp473Gly) n.2014A>G | |
| 22 | g.29678281A>T | CA323119270 | NF2 | c.1397A>T (p.Asp466Val) c.*1026A>T (n.*1026A>T) c.1532A>T (p.Asp511Val) c.950A>T (p.Asp317Val) c.*1414A>T (n.*1414A>T) c.1551A>T (n.1551A>T) c.1283A>T (p.Asp428Val) c.1409A>T (p.Asp470Val) c.1406A>T (p.Asp469Val) c.1445A>T (p.Asp482Val) c.448-16471A>T (n.448-16471A>T) c.*51A>T (n.*51A>T) n.2091A>T c.1418A>T (p.Asp473Val) n.2014A>T | dbSNP |
| 22 | g.29678282T>A | CA411149722 | NF2 | c.1398T>A (p.Asp466Glu) c.*1027T>A (n.*1027T>A) c.1533T>A (p.Asp511Glu) c.951T>A (p.Asp317Glu) c.*1415T>A (n.*1415T>A) c.1552T>A (n.1552T>A) c.1284T>A (p.Asp428Glu) c.1410T>A (p.Asp470Glu) c.1407T>A (p.Asp469Glu) c.1446T>A (p.Asp482Glu) c.448-16470T>A (n.448-16470T>A) c.*52T>A (n.*52T>A) n.2092T>A c.1419T>A (p.Asp473Glu) n.2015T>A | |
| 22 | g.29678282T>C | CA514188932 | NF2 | c.1398T>C (p.Asp466=) c.*1027T>C (n.*1027T>C) c.1533T>C (p.Asp511=) c.951T>C (p.Asp317=) c.*1415T>C (n.*1415T>C) c.1552T>C (n.1552T>C) c.1284T>C (p.Asp428=) c.1410T>C (p.Asp470=) c.1407T>C (p.Asp469=) c.1446T>C (p.Asp482=) c.448-16470T>C (n.448-16470T>C) c.*52T>C (n.*52T>C) n.2092T>C c.1419T>C (p.Asp473=) n.2015T>C | ClinVar dbSNP |
| 22 | g.29678282T>G | CA411149723 | NF2 | c.1398T>G (p.Asp466Glu) c.*1027T>G (n.*1027T>G) c.1533T>G (p.Asp511Glu) c.951T>G (p.Asp317Glu) c.*1415T>G (n.*1415T>G) c.1552T>G (n.1552T>G) c.1284T>G (p.Asp428Glu) c.1410T>G (p.Asp470Glu) c.1407T>G (p.Asp469Glu) c.1446T>G (p.Asp482Glu) c.448-16470T>G (n.448-16470T>G) c.*52T>G (n.*52T>G) n.2092T>G c.1419T>G (p.Asp473Glu) n.2015T>G | |
| 22 | g.29678282T= | CA2400685433 | NF2 | c.1398T= (p.Asp466=) c.*1027T= (n.*1027T=) c.1533T= (p.Asp511=) c.951T= (p.Asp317=) c.*1415T= (n.*1415T=) c.1552T= (n.1552T=) c.1284T= (p.Asp428=) c.1410T= (p.Asp470=) c.1407T= (p.Asp469=) c.1446T= (p.Asp482=) c.448-16470T= (n.448-16470T=) c.*52T= (n.*52T=) n.2092T= c.1419T= (p.Asp473=) n.2015T= | |
| 22 | g.29678283A>C | CA411149726 | NF2 | c.1399A>C (p.Thr467Pro) c.*1028A>C (n.*1028A>C) c.1534A>C (p.Thr512Pro) c.952A>C (p.Thr318Pro) c.*1416A>C (n.*1416A>C) c.1553A>C (n.1553A>C) c.1285A>C (p.Thr429Pro) c.1411A>C (p.Thr471Pro) c.1408A>C (p.Thr470Pro) c.1447A>C (p.Thr483Pro) c.448-16469A>C (n.448-16469A>C) c.*53A>C (n.*53A>C) n.2093A>C c.1420A>C (p.Thr474Pro) n.2016A>C | |
| 22 | g.29678283A>G | CA411149725 | NF2 | c.1399A>G (p.Thr467Ala) c.*1028A>G (n.*1028A>G) c.1534A>G (p.Thr512Ala) c.952A>G (p.Thr318Ala) c.*1416A>G (n.*1416A>G) c.1553A>G (n.1553A>G) c.1285A>G (p.Thr429Ala) c.1411A>G (p.Thr471Ala) c.1408A>G (p.Thr470Ala) c.1447A>G (p.Thr483Ala) c.448-16469A>G (n.448-16469A>G) c.*53A>G (n.*53A>G) n.2093A>G c.1420A>G (p.Thr474Ala) n.2016A>G | |
| 22 | g.29678283A>T | CA411149724 | NF2 | c.1399A>T (p.Thr467Ser) c.*1028A>T (n.*1028A>T) c.1534A>T (p.Thr512Ser) c.952A>T (p.Thr318Ser) c.*1416A>T (n.*1416A>T) c.1553A>T (n.1553A>T) c.1285A>T (p.Thr429Ser) c.1411A>T (p.Thr471Ser) c.1408A>T (p.Thr470Ser) c.1447A>T (p.Thr483Ser) c.448-16469A>T (n.448-16469A>T) c.*53A>T (n.*53A>T) n.2093A>T c.1420A>T (p.Thr474Ser) n.2016A>T | COSMIC COSMIC |
| 22 | g.29678283dup | CA2695230514 | NF2 | c.1399dup (p.Thr467AsnfsTer2) c.*1028dup (n.*1028dup) c.1534dup (p.Thr512AsnfsTer2) c.952dup (p.Thr318AsnfsTer2) c.*1416dup (n.*1416dup) c.1553dup (n.1553dup) c.1285dup (p.Thr429AsnfsTer2) c.1411dup (p.Thr471AsnfsTer2) c.1408dup (p.Thr470AsnfsTer2) c.1447dup (p.Thr483AsnfsTer2) c.448-16469dup (n.448-16469dup) c.*53dup (n.*53dup) n.2093dup c.1420dup (p.Thr474AsnfsTer2) n.2016dup | |
| 22 | g.29678284C>A | CA411149727 | NF2 | c.1400C>A (p.Thr467Asn) c.*1029C>A (n.*1029C>A) c.1535C>A (p.Thr512Asn) c.953C>A (p.Thr318Asn) c.*1417C>A (n.*1417C>A) c.1554C>A (n.1554C>A) c.1286C>A (p.Thr429Asn) c.1412C>A (p.Thr471Asn) c.1409C>A (p.Thr470Asn) c.1448C>A (p.Thr483Asn) c.448-16468C>A (n.448-16468C>A) c.*54C>A (n.*54C>A) n.2094C>A c.1421C>A (p.Thr474Asn) n.2017C>A | |
| 22 | g.29678284C>G | CA411149728 | NF2 | c.1400C>G (p.Thr467Ser) c.*1029C>G (n.*1029C>G) c.1535C>G (p.Thr512Ser) c.953C>G (p.Thr318Ser) c.*1417C>G (n.*1417C>G) c.1554C>G (n.1554C>G) c.1286C>G (p.Thr429Ser) c.1412C>G (p.Thr471Ser) c.1409C>G (p.Thr470Ser) c.1448C>G (p.Thr483Ser) c.448-16468C>G (n.448-16468C>G) c.*54C>G (n.*54C>G) n.2094C>G c.1421C>G (p.Thr474Ser) n.2017C>G | |
| 22 | g.29678284C>T | CA411149729 | NF2 | c.1400C>T (p.Thr467Ile) c.*1029C>T (n.*1029C>T) c.1535C>T (p.Thr512Ile) c.953C>T (p.Thr318Ile) c.*1417C>T (n.*1417C>T) c.1554C>T (n.1554C>T) c.1286C>T (p.Thr429Ile) c.1412C>T (p.Thr471Ile) c.1409C>T (p.Thr470Ile) c.1448C>T (p.Thr483Ile) c.448-16468C>T (n.448-16468C>T) c.*54C>T (n.*54C>T) n.2094C>T c.1421C>T (p.Thr474Ile) n.2017C>T | ClinVar dbSNP |
| 22 | g.29678285T>A | CA514188953 | NF2 | c.1401T>A (p.Thr467=) c.*1030T>A (n.*1030T>A) c.1536T>A (p.Thr512=) c.954T>A (p.Thr318=) c.*1418T>A (n.*1418T>A) c.1555T>A (n.1555T>A) c.1287T>A (p.Thr429=) c.1413T>A (p.Thr471=) c.1410T>A (p.Thr470=) c.1449T>A (p.Thr483=) c.448-16467T>A (n.448-16467T>A) c.*55T>A (n.*55T>A) n.2095T>A c.1422T>A (p.Thr474=) n.2018T>A | |
| 22 | g.29678285T>C | CA514188954 | NF2 | c.1401T>C (p.Thr467=) c.*1030T>C (n.*1030T>C) c.1536T>C (p.Thr512=) c.954T>C (p.Thr318=) c.*1418T>C (n.*1418T>C) c.1555T>C (n.1555T>C) c.1287T>C (p.Thr429=) c.1413T>C (p.Thr471=) c.1410T>C (p.Thr470=) c.1449T>C (p.Thr483=) c.448-16467T>C (n.448-16467T>C) c.*55T>C (n.*55T>C) n.2095T>C c.1422T>C (p.Thr474=) n.2018T>C | gnomAD v4 |
| 22 | g.29678285T>G | CA514188958 | NF2 | c.1401T>G (p.Thr467=) c.*1030T>G (n.*1030T>G) c.1536T>G (p.Thr512=) c.954T>G (p.Thr318=) c.*1418T>G (n.*1418T>G) c.1555T>G (n.1555T>G) c.1287T>G (p.Thr429=) c.1413T>G (p.Thr471=) c.1410T>G (p.Thr470=) c.1449T>G (p.Thr483=) c.448-16467T>G (n.448-16467T>G) c.*55T>G (n.*55T>G) n.2095T>G c.1422T>G (p.Thr474=) n.2018T>G | dbSNP gnomAD v4 |
| 22 | g.29678285T= | CA2400685434 | NF2 | c.1401T= (p.Thr467=) c.*1030T= (n.*1030T=) c.1536T= (p.Thr512=) c.954T= (p.Thr318=) c.*1418T= (n.*1418T=) c.1555T= (n.1555T=) c.1287T= (p.Thr429=) c.1413T= (p.Thr471=) c.1410T= (p.Thr470=) c.1449T= (p.Thr483=) c.448-16467T= (n.448-16467T=) c.*55T= (n.*55T=) n.2095T= c.1422T= (p.Thr474=) n.2018T= | |
| 22 | g.29678286G>A | CA411149730 | NF2 | c.1402G>A (p.Asp468Asn) c.*1031G>A (n.*1031G>A) c.1537G>A (p.Asp513Asn) c.955G>A (p.Asp319Asn) c.*1419G>A (n.*1419G>A) c.1556G>A (n.1556G>A) c.1288G>A (p.Asp430Asn) c.1414G>A (p.Asp472Asn) c.1411G>A (p.Asp471Asn) c.1450G>A (p.Asp484Asn) c.448-16466G>A (n.448-16466G>A) c.*56G>A (n.*56G>A) n.2096G>A c.1423G>A (p.Asp475Asn) n.2019G>A | |
| 22 | g.29678286G>C | CA411149731 | NF2 | c.1402G>C (p.Asp468His) c.*1031G>C (n.*1031G>C) c.1537G>C (p.Asp513His) c.955G>C (p.Asp319His) c.*1419G>C (n.*1419G>C) c.1556G>C (n.1556G>C) c.1288G>C (p.Asp430His) c.1414G>C (p.Asp472His) c.1411G>C (p.Asp471His) c.1450G>C (p.Asp484His) c.448-16466G>C (n.448-16466G>C) c.*56G>C (n.*56G>C) n.2096G>C c.1423G>C (p.Asp475His) n.2019G>C | |
| 22 | g.29678286G>T | CA411149732 | NF2 | c.1402G>T (p.Asp468Tyr) c.*1031G>T (n.*1031G>T) c.1537G>T (p.Asp513Tyr) c.955G>T (p.Asp319Tyr) c.*1419G>T (n.*1419G>T) c.1556G>T (n.1556G>T) c.1288G>T (p.Asp430Tyr) c.1414G>T (p.Asp472Tyr) c.1411G>T (p.Asp471Tyr) c.1450G>T (p.Asp484Tyr) c.448-16466G>T (n.448-16466G>T) c.*56G>T (n.*56G>T) n.2096G>T c.1423G>T (p.Asp475Tyr) n.2019G>T | |
| 22 | g.29678287A>C | CA411149733 | NF2 | c.1403A>C (p.Asp468Ala) c.*1032A>C (n.*1032A>C) c.1538A>C (p.Asp513Ala) c.956A>C (p.Asp319Ala) c.*1420A>C (n.*1420A>C) c.1557A>C (n.1557A>C) c.1289A>C (p.Asp430Ala) c.1415A>C (p.Asp472Ala) c.1412A>C (p.Asp471Ala) c.1451A>C (p.Asp484Ala) c.448-16465A>C (n.448-16465A>C) c.*57A>C (n.*57A>C) n.2097A>C c.1424A>C (p.Asp475Ala) n.2020A>C | |
| 22 | g.29678287A>G | CA411149735 | NF2 | c.1403A>G (p.Asp468Gly) c.*1032A>G (n.*1032A>G) c.1538A>G (p.Asp513Gly) c.956A>G (p.Asp319Gly) c.*1420A>G (n.*1420A>G) c.1557A>G (n.1557A>G) c.1289A>G (p.Asp430Gly) c.1415A>G (p.Asp472Gly) c.1412A>G (p.Asp471Gly) c.1451A>G (p.Asp484Gly) c.448-16465A>G (n.448-16465A>G) c.*57A>G (n.*57A>G) n.2097A>G c.1424A>G (p.Asp475Gly) n.2020A>G | |
| 22 | g.29678287A>T | CA411149734 | NF2 | c.1403A>T (p.Asp468Val) c.*1032A>T (n.*1032A>T) c.1538A>T (p.Asp513Val) c.956A>T (p.Asp319Val) c.*1420A>T (n.*1420A>T) c.1557A>T (n.1557A>T) c.1289A>T (p.Asp430Val) c.1415A>T (p.Asp472Val) c.1412A>T (p.Asp471Val) c.1451A>T (p.Asp484Val) c.448-16465A>T (n.448-16465A>T) c.*57A>T (n.*57A>T) n.2097A>T c.1424A>T (p.Asp475Val) n.2020A>T | |
| 22 | g.29678288C>A | CA411149736 | NF2 | c.1404C>A (p.Asp468Glu) c.*1033C>A (n.*1033C>A) c.1539C>A (p.Asp513Glu) c.957C>A (p.Asp319Glu) c.*1421C>A (n.*1421C>A) c.1558C>A (n.1558C>A) c.1290C>A (p.Asp430Glu) c.1416C>A (p.Asp472Glu) c.1413C>A (p.Asp471Glu) c.1452C>A (p.Asp484Glu) c.448-16464C>A (n.448-16464C>A) c.*58C>A (n.*58C>A) n.2098C>A c.1425C>A (p.Asp475Glu) n.2021C>A | |
| 22 | g.29678288C>G | CA411149737 | NF2 | c.1404C>G (p.Asp468Glu) c.*1033C>G (n.*1033C>G) c.1539C>G (p.Asp513Glu) c.957C>G (p.Asp319Glu) c.*1421C>G (n.*1421C>G) c.1558C>G (n.1558C>G) c.1290C>G (p.Asp430Glu) c.1416C>G (p.Asp472Glu) c.1413C>G (p.Asp471Glu) c.1452C>G (p.Asp484Glu) c.448-16464C>G (n.448-16464C>G) c.*58C>G (n.*58C>G) n.2098C>G c.1425C>G (p.Asp475Glu) n.2021C>G | |
| 22 | g.29678288C>T | CA514188978 | NF2 | c.1404C>T (p.Asp468=) c.*1033C>T (n.*1033C>T) c.1539C>T (p.Asp513=) c.957C>T (p.Asp319=) c.*1421C>T (n.*1421C>T) c.1558C>T (n.1558C>T) c.1290C>T (p.Asp430=) c.1416C>T (p.Asp472=) c.1413C>T (p.Asp471=) c.1452C>T (p.Asp484=) c.448-16464C>T (n.448-16464C>T) c.*58C>T (n.*58C>T) n.2098C>T c.1425C>T (p.Asp475=) n.2021C>T | |
| 22 | g.29678289A= | CA2400685435 | NF2 | c.1405A= (p.Met469=) c.*1034A= (n.*1034A=) c.1540A= (p.Met514=) c.958A= (p.Met320=) c.*1422A= (n.*1422A=) c.1559A= (n.1559A=) c.1291A= (p.Met431=) c.1417A= (p.Met473=) c.1414A= (p.Met472=) c.1453A= (p.Met485=) c.448-16463A= (n.448-16463A=) c.*59A= (n.*59A=) n.2099A= c.1426A= (p.Met476=) n.2022A= | |
| 22 | g.29678289A>C | CA411149738 | NF2 | c.1405A>C (p.Met469Leu) c.*1034A>C (n.*1034A>C) c.1540A>C (p.Met514Leu) c.958A>C (p.Met320Leu) c.*1422A>C (n.*1422A>C) c.1559A>C (n.1559A>C) c.1291A>C (p.Met431Leu) c.1417A>C (p.Met473Leu) c.1414A>C (p.Met472Leu) c.1453A>C (p.Met485Leu) c.448-16463A>C (n.448-16463A>C) c.*59A>C (n.*59A>C) n.2099A>C c.1426A>C (p.Met476Leu) n.2022A>C | ClinVar dbSNP gnomAD v4 |
| 22 | g.29678289A>G | CA021341 | NF2 | c.1405A>G (p.Met469Val) c.*1034A>G (n.*1034A>G) c.1540A>G (p.Met514Val) c.958A>G (p.Met320Val) c.*1422A>G (n.*1422A>G) c.1559A>G (n.1559A>G) c.1291A>G (p.Met431Val) c.1417A>G (p.Met473Val) c.1414A>G (p.Met472Val) c.1453A>G (p.Met485Val) c.448-16463A>G (n.448-16463A>G) c.*59A>G (n.*59A>G) n.2099A>G c.1426A>G (p.Met476Val) n.2022A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.29678289A>T | CA411149739 | NF2 | c.1405A>T (p.Met469Leu) c.*1034A>T (n.*1034A>T) c.1540A>T (p.Met514Leu) c.958A>T (p.Met320Leu) c.*1422A>T (n.*1422A>T) c.1559A>T (n.1559A>T) c.1291A>T (p.Met431Leu) c.1417A>T (p.Met473Leu) c.1414A>T (p.Met472Leu) c.1453A>T (p.Met485Leu) c.448-16463A>T (n.448-16463A>T) c.*59A>T (n.*59A>T) n.2099A>T c.1426A>T (p.Met476Leu) n.2022A>T | |
| 22 | g.29678290T>A | CA411149740 | NF2 | c.1406T>A (p.Met469Lys) c.*1035T>A (n.*1035T>A) c.1541T>A (p.Met514Lys) c.959T>A (p.Met320Lys) c.*1423T>A (n.*1423T>A) c.1560T>A (n.1560T>A) c.1292T>A (p.Met431Lys) c.1418T>A (p.Met473Lys) c.1415T>A (p.Met472Lys) c.1454T>A (p.Met485Lys) c.448-16462T>A (n.448-16462T>A) c.*60T>A (n.*60T>A) n.2100T>A c.1427T>A (p.Met476Lys) n.2023T>A | |
| 22 | g.29678290T>C | CA411149741 | NF2 | c.1406T>C (p.Met469Thr) c.*1035T>C (n.*1035T>C) c.1541T>C (p.Met514Thr) c.959T>C (p.Met320Thr) c.*1423T>C (n.*1423T>C) c.1560T>C (n.1560T>C) c.1292T>C (p.Met431Thr) c.1418T>C (p.Met473Thr) c.1415T>C (p.Met472Thr) c.1454T>C (p.Met485Thr) c.448-16462T>C (n.448-16462T>C) c.*60T>C (n.*60T>C) n.2100T>C c.1427T>C (p.Met476Thr) n.2023T>C | |
| 22 | g.29678290T>G | CA411149742 | NF2 | c.1406T>G (p.Met469Arg) c.*1035T>G (n.*1035T>G) c.1541T>G (p.Met514Arg) c.959T>G (p.Met320Arg) c.*1423T>G (n.*1423T>G) c.1560T>G (n.1560T>G) c.1292T>G (p.Met431Arg) c.1418T>G (p.Met473Arg) c.1415T>G (p.Met472Arg) c.1454T>G (p.Met485Arg) c.448-16462T>G (n.448-16462T>G) c.*60T>G (n.*60T>G) n.2100T>G c.1427T>G (p.Met476Arg) n.2023T>G | |
| 22 | g.29678291G>A | CA411149743 | NF2 | c.1407G>A (p.Met469Ile) c.*1036G>A (n.*1036G>A) c.1542G>A (p.Met514Ile) c.960G>A (p.Met320Ile) c.*1424G>A (n.*1424G>A) c.1561G>A (n.1561G>A) c.1293G>A (p.Met431Ile) c.1419G>A (p.Met473Ile) c.1416G>A (p.Met472Ile) c.1455G>A (p.Met485Ile) c.448-16461G>A (n.448-16461G>A) c.*61G>A (n.*61G>A) n.2101G>A c.1428G>A (p.Met476Ile) n.2024G>A |