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.29681549A= | CA2400686838 | NF2 | c.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= | |
| 22 | g.29681549A>C | CA411150338 | NF2 | c.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 | |
| 22 | g.29681549A>G | CA411150339 | NF2 | c.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 |
| 22 | g.29681549A>T | CA10583925 | NF2 | c.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 |
| 22 | g.29681550C>A | CA411150342 | NF2 | c.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 | |
| 22 | g.29681550C= | CA2400686839 | NF2 | c.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= | |
| 22 | g.29681550C>G | CA411150344 | NF2 | c.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 | |
| 22 | g.29681550C>T | CA514190631 | NF2 | c.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 |
| 22 | g.29681551A>C | CA411150346 | NF2 | c.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 | |
| 22 | g.29681551A>G | CA411150348 | NF2 | c.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 |
| 22 | g.29681551A>T | CA411150349 | NF2 | c.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 | |
| 22 | g.29681552A= | CA2400686840 | NF2 | c.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= | |
| 22 | g.29681552A>C | CA411150351 | NF2 | c.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 | |
| 22 | g.29681552A>G | CA323121011 | NF2 | c.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 |
| 22 | g.29681552A>T | CA411150354 | NF2 | c.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 | |
| 22 | g.29681553T>A | CA411150358 | NF2 | c.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 | |
| 22 | g.29681553T>C | CA514190632 | NF2 | c.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 |
| 22 | g.29681553T>G | CA411150356 | NF2 | c.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 |
| 22 | g.29681554G>A | CA411150359 | NF2 | c.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 |
| 22 | g.29681554G>C | CA411150360 | NF2 | c.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 | |
| 22 | g.29681554G>T | CA411150361 | NF2 | c.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 |
| 22 | g.29681554_29681556del | CA2656032906 | NF2 | c.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 |
| 22 | g.29681555A= | CA2400686841 | NF2 | c.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= | |
| 22 | g.29681555A>C | CA411150362 | NF2 | c.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 | |
| 22 | g.29681555A>G | CA411150364 | NF2 | c.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 |
| 22 | g.29681555A>T | CA411150366 | NF2 | c.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 | |
| 22 | g.29681556G>A | CA514190634 | NF2 | c.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 |
| 22 | g.29681556G>C | CA411150368 | NF2 | c.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 |
| 22 | g.29681556G= | CA2400686842 | NF2 | c.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= | |
| 22 | g.29681556G>T | CA411150369 | NF2 | c.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 | |
| 22 | g.29681557A= | CA2400686843 | NF2 | c.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= | |
| 22 | g.29681557A>C | CA411150370 | NF2 | c.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 | |
| 22 | g.29681557A>G | CA411150372 | NF2 | c.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 | |
| 22 | g.29681557A>T | CA411150374 | NF2 | c.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 |
| 22 | g.29681558A>C | CA411150376 | NF2 | c.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 | |
| 22 | g.29681558A>G | CA411150378 | NF2 | c.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 | |
| 22 | g.29681558A>T | CA411150379 | NF2 | c.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 | |
| 22 | g.29681559C>A | CA411150380 | NF2 | c.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 | |
| 22 | g.29681559C>G | CA411150382 | NF2 | c.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 | |
| 22 | g.29681559C>T | CA514190635 | NF2 | c.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 |
| 22 | g.29681560T>A | CA411150385 | NF2 | c.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 | |
| 22 | g.29681560T>C | CA411150386 | NF2 | c.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 |
| 22 | g.29681560T>G | CA411150388 | NF2 | c.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 | |
| 22 | g.29681561C>A | CA411150390 | NF2 | c.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 | |
| 22 | g.29681561C>G | CA411150392 | NF2 | c.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 |
| 22 | g.29681561C>T | CA411150394 | NF2 | c.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 | |
| 22 | g.29681562C>A | CA514190637 | NF2 | c.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 | |
| 22 | g.29681562C= | CA2400686844 | NF2 | c.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= | |
| 22 | g.29681562C>G | CA514190638 | NF2 | c.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 |