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.29681565_29681567delinsCAG | CA2400686846 | NF2 | c.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 | |
| 22 | g.29681566A= | CA2400686848 | NF2 | c.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= | |
| 22 | g.29681566A>C | CA514190640 | NF2 | c.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 | |
| 22 | g.29681566A>G | CA411150411 | NF2 | c.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 |
| 22 | g.29681566A>T | CA411150415 | NF2 | c.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 | |
| 22 | g.29681566_29681567del | CA10175569 | NF2 | c.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 |
| 22 | g.29681567G>A | CA411150416 | NF2 | c.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 |
| 22 | g.29681567G>C | CA411150417 | NF2 | c.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 |
| 22 | g.29681567G= | CA2400686849 | NF2 | c.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= | |
| 22 | g.29681567G>T | CA411150419 | NF2 | c.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 |
| 22 | g.29681568G>A | CA514190641 | NF2 | c.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 |
| 22 | g.29681568G>C | CA411150420 | NF2 | c.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 | |
| 22 | g.29681568G>T | CA411150422 | NF2 | c.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 |
| 22 | g.29681569G>A | CA411150423 | NF2 | c.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 |
| 22 | g.29681569G>C | CA411150424 | NF2 | c.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 | |
| 22 | g.29681569G>T | CA411150425 | NF2 | c.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 | |
| 22 | g.29681570G>A | CA032703 | NF2 | c.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 |
| 22 | g.29681570G>C | CA411150428 | NF2 | c.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 | |
| 22 | g.29681570G= | CA2400686850 | NF2 | c.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= | |
| 22 | g.29681570G>T | CA411150430 | NF2 | c.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 |
| 22 | g.29681571T>A | CA514190643 | NF2 | c.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 | |
| 22 | g.29681571T>C | CA514190644 | NF2 | c.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 |
| 22 | g.29681571T>G | CA514190645 | NF2 | c.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 | |
| 22 | g.29681572G>A | CA411150432 | NF2 | c.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 |
| 22 | g.29681572G>C | CA411150436 | NF2 | c.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 | |
| 22 | g.29681572G>T | CA411150434 | NF2 | c.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 | |
| 22 | g.29681573G>A | CA411150438 | NF2 | c.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 |
| 22 | g.29681573G>C | CA411150442 | NF2 | c.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 | |
| 22 | g.29681573G>T | CA411150440 | NF2 | c.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 | |
| 22 | g.29681574C>A | CA514190646 | NF2 | c.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 | |
| 22 | g.29681574C>G | CA514190647 | NF2 | c.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 |
| 22 | g.29681574C>T | CA514190648 | NF2 | c.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 |
| 22 | g.29681575A= | CA2400686851 | NF2 | c.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= | |
| 22 | g.29681575A>C | CA411150444 | NF2 | c.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 | |
| 22 | g.29681575A>G | CA411150447 | NF2 | c.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 |
| 22 | g.29681575A>T | CA411150448 | NF2 | c.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 | |
| 22 | g.29681576G>A | CA411150451 | NF2 | c.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 |
| 22 | g.29681576G>C | CA411150453 | NF2 | c.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 | |
| 22 | g.29681576G= | CA2400686852 | NF2 | c.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= | |
| 22 | g.29681576G>T | CA411150455 | NF2 | c.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 | |
| 22 | g.29681577C>A | CA411150457 | NF2 | c.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 | |
| 22 | g.29681577C= | CA2400686853 | NF2 | c.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= | |
| 22 | g.29681577C>G | CA411150458 | NF2 | c.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 |
| 22 | g.29681577C>T | CA514190649 | NF2 | c.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 |
| 22 | g.29681578A= | CA2400686854 | NF2 | c.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= | |
| 22 | g.29681578A>C | CA411150460 | NF2 | c.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 |
| 22 | g.29681578A>G | CA411150463 | NF2 | c.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 |
| 22 | g.29681578A>T | CA411150465 | NF2 | c.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 | |
| 22 | g.29681579G>A | CA411150470 | NF2 | c.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 |