Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
21-34001107-C-T | c.*2198G>A | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001205-A-G | c.*2100T>C | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001242-G-GG | c.*2063dup | - | 3-UTRInsertion | 32/32 | - | 1 |
21-34001244-A-G | c.*2061T>C | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001263-A-T | c.*2042T>A | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001274-C-A | c.*2031G>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001316-T-C | c.*1989A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001355-T-C | c.*1950A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001361-T-G | c.*1944A>C | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001430-T-C | c.*1875A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001474-C-T | c.*1831G>A | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001496-G-A | c.*1809C>T | - | 3-UTRSNV | 32/32 | - | 2 |
21-34001515-G-T | c.*1790C>A | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001548-T-C | c.*1757A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001565-T-C | c.*1740A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001585-C-G | c.*1720G>C | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001625-C-T | c.*1680G>A | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001627-G-A | c.*1678C>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001638-C-A | c.*1667G>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001638-C-T | c.*1667G>A | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001639-G-A | c.*1666C>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001670-A-T | c.*1635T>A | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001697-T-C | c.*1608A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001713-T-C | c.*1592A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001748-T-C | c.*1557A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001750-G-A | c.*1555C>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001768-A-G | c.*1537T>C | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001776-G-C | c.*1529C>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001808-A-G | c.*1497T>C | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001813-T-C | c.*1492A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001824-T-C | c.*1481A>G | - | 3-UTRSNV | 32/32 | - | 2 |
21-34001852-C-T | c.*1453G>A | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001853-G-A | c.*1452C>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001874-T-C | c.*1431A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001913-G-A | c.*1392C>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001914-A-G | c.*1391T>C | - | 3-UTRSNV | 32/32 | - | 1 |
21-34001981-G-A | c.*1324C>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002004-T-A | c.*1301A>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002029-G-A | c.*1276C>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002029-G-C | c.*1276C>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002041-T-C | c.*1264A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002047-T-C | c.*1258A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002049-C-A | c.*1256G>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002054-T-C | c.*1251A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002060-C-T | c.*1245G>A | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002069-A-G | c.*1236T>C | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002114-G-A | c.*1191C>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002138-T-G | c.*1167A>C | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002154-C-T | c.*1151G>A | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002155-G-A | c.*1150C>T | - | 3-UTRSNV | 32/32 | - | 2 |
21-34002165-T-C | c.*1140A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002212-G-C | c.*1093C>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002213-T-C | c.*1092A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002220-G-C | c.*1085C>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002226-G-A | c.*1079C>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002226-G-C | c.*1079C>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002226-G-T | c.*1079C>A | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002227-G-A | c.*1078C>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002227-G-C | c.*1078C>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002233-G-A | c.*1072C>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002240-C-T | c.*1065G>A | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002274-G-A | c.*1031C>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002358-T-G | c.*947A>C | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002359-C-G | c.*946G>C | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002359-C-T | c.*946G>A | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002365-T-C | c.*940A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002367-C-T | c.*938G>A | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002378-G-A | c.*927C>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002380-G-T | c.*925C>A | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002383-C-T | c.*922G>A | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002386-T-C | c.*919A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002420-T-C | c.*885A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002426-T-C | c.*879A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002437-T-C | c.*868A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002476-T-C | c.*829A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002518-A-G | c.*787T>C | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002523-C-G | c.*782G>C | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002532-G-A | c.*773C>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002532-G-C | c.*773C>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002586-A-G | c.*719T>C | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002592-T-C | c.*713A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002592-T-G | c.*713A>C | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002605-G-A | c.*700C>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002611-A-C | c.*694T>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002669-C-T | c.*636G>A | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002688-T-C | c.*617A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002700-T-A | c.*605A>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002700-T-C | c.*605A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002744-T-G | c.*561A>C | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002968-A-G | c.*337T>C | - | 3-UTRSNV | 32/32 | - | 1 |
21-34002983-G-A | c.*322C>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34003044-A-G | c.*261T>C | - | 3-UTRSNV | 32/32 | - | 1 |
21-34003073-G-T | c.*232C>A | - | 3-UTRSNV | 32/32 | - | 1 |
21-34003102-C-A | c.*203G>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34003176-A-G | c.*129T>C | - | 3-UTRSNV | 32/32 | - | 1 |
21-34003179-A-T | c.*126T>A | - | 3-UTRSNV | 32/32 | - | 1 |
21-34003210-A-AAA | c.*95_*96insTT | - | 3-UTRInsertion | 32/32 | - | 1 |
21-34003239-T-A | c.*66A>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34003249-T-A | c.*56A>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34003255-T-G | c.*50A>C | - | 3-UTRSNV | 32/32 | - | 1 |
21-34003261-T-C | c.*44A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34003261-T-G | c.*44A>C | - | 3-UTRSNV | 32/32 | - | 1 |
21-34003274-G-C | c.*31C>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34003274-G-T | c.*31C>A | - | 3-UTRSNV | 32/32 | - | 1 |
21-34003280-A-G | c.*25T>C | - | 3-UTRSNV | 32/32 | - | 1 |
21-34003289-T-C | c.*16A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34003297-G-A | c.*8C>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34003298-C-A | c.*7G>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34003300-T-A | c.*5A>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34003300-T-C | c.*5A>G | - | 3-UTRSNV | 32/32 | - | 1 |
21-34003301-G-T | c.*4C>A | - | 3-UTRSNV | 32/32 | - | 1 |
21-34003303-C-T | c.*2G>A | - | 3-UTRSNV | 32/32 | - | 1 |
21-34003304-G-A | c.*1C>T | - | 3-UTRSNV | 32/32 | - | 1 |
21-34003309-C-G | c.4835G>C | p.Arg1612Thr | Missense | 32/32 | - | 1 |
21-34003309-C-T | c.4835G>A | p.Arg1612Lys | Missense | 32/32 | - | 1 |
21-34003314-T-C | c.4830A>G | p.Thr1610Thr | Synonymous | 32/32 | - | 1 |
21-34003322-C-A | c.4822G>T | p.Asp1608Tyr | Missense | 32/32 | - | 1 |
21-34003331-G-A | c.4813C>T | p.Pro1605Ser | Missense | 32/32 | - | 1 |
21-34003331-G-T | c.4813C>A | p.Pro1605Thr | Missense | 32/32 | - | 1 |
21-34003341-A-AA | c.4803dup | p.Lys1602* | Nonsense | 32/32 | - | 1 |
21-34003346-C-T | c.4798G>A | p.Ala1600Thr | Missense | 32/32 | - | 1 |
21-34003348-A-C | c.4796T>G | p.Leu1599Trp | Missense | 32/32 | - | 1 |
21-34003348-A-G | c.4796T>C | p.Leu1599Ser | Missense | 32/32 | - | 1 |
21-34003352-T-C | c.4792A>G | p.Thr1598Ala | Missense | 32/32 | - | 1 |
21-34003353-C-T | c.4791G>A | p.Thr1597Thr | Synonymous | 32/32 | - | 1 |
21-34003354-G-A | c.4790C>T | p.Thr1597Met | Missense | 32/32 | - | 1 |
21-34003356-G-A | c.4788C>T | p.Phe1596Phe | Synonymous | 32/32 | - | 1 |
21-34003357-A-C | c.4787T>G | p.Phe1596Cys | Missense | 32/32 | - | 1 |
21-34003365-T-C | c.4779A>G | p.Val1593Val | Synonymous | 32/32 | - | 1 |
21-34003375-C-T | c.4769G>A | p.Ser1590Asn | Missense | 32/32 | - | 1 |
21-34003377-G-A | c.4767C>T | p.Thr1589Thr | Synonymous | 32/32 | - | 1 |
21-34003377-G-C | c.4767C>G | p.Thr1589Thr | Synonymous | 32/32 | - | 1 |
21-34003378-G-C | c.4766C>G | p.Thr1589Ser | Missense | 32/32 | - | 1 |
21-34003382-C-T | c.4762G>A | p.Gly1588Ser | Missense | 32/32 | - | 1 |
21-34003383-G-A | c.4761C>T | p.Pro1587Pro | Synonymous | 32/32 | - | 1 |
21-34003383-G-C | c.4761C>G | p.Pro1587Pro | Synonymous | 32/32 | - | 1 |
21-34003383-G-T | c.4761C>A | p.Pro1587Pro | Synonymous | 32/32 | - | 1 |
21-34003386-C-T | c.4758G>A | p.Pro1586Pro | Synonymous | 32/32 | - | 1 |
21-34003387-G-A | c.4757C>T | p.Pro1586Leu | Missense | 32/32 | - | 1 |
21-34003391-G-A | c.4753C>T | p.Leu1585Phe | Missense | 32/32 | - | 1 |
21-34003394-G-A | c.4750C>T | p.Leu1584Leu | Synonymous | 32/32 | - | 1 |
21-34003396-G-A | c.4748C>T | p.Pro1583Leu | Missense | 32/32 | - | 1 |
21-34003405-G-A | c.4739C>T | p.Pro1580Leu | Missense | 32/32 | - | 1 |
21-34003411-G-A | c.4733C>T | p.Pro1578Leu | Missense | 32/32 | - | 1 |
21-34003411-G-C | c.4733C>G | p.Pro1578Arg | Missense | 32/32 | - | 1 |
21-34003412-G-A | c.4732C>T | p.Pro1578Ser | Missense | 32/32 | - | 1 |
21-34003414-G-T | c.4730C>A | p.Pro1577His | Missense | 32/32 | - | 1 |
21-34003425-C-T | c.4719G>A | p.Pro1573Pro | Synonymous | 32/32 | - | 1 |
21-34003426-G-A | c.4718C>T | p.Pro1573Leu | Missense | 32/32 | - | 1 |
21-34003434-A-G | c.4710T>C | p.Cys1570Cys | Synonymous | 32/32 | - | 1 |
21-34003437-G-A | c.4707C>T | p.Phe1569Phe | Synonymous | 32/32 | - | 1 |
21-34003437-G-C | c.4707C>G | p.Phe1569Leu | Missense | 32/32 | - | 1 |
21-34003449-T-C | c.4695A>G | p.Thr1565Thr | Synonymous | 32/32 | - | 1 |
21-34003450-G-C | c.4694C>G | p.Thr1565Arg | Missense | 32/32 | - | 1 |
21-34003452-A-C | c.4692T>G | p.Gly1564Gly | Synonymous | 32/32 | - | 1 |
21-34003454-C-T | c.4690G>A | p.Gly1564Ser | Missense | 32/32 | - | 1 |
21-34003457-T-C | c.4687A>G | p.Lys1563Glu | Missense | 32/32 | - | 1 |
21-34003476-T-C | c.4668A>G | p.Thr1556Thr | Synonymous | 32/32 | - | 1 |
21-34003477-G-A | c.4667C>T | p.Thr1556Ile | Missense | 32/32 | - | 1 |
21-34003489-C-T | c.4655G>A | p.Gly1552Asp | Missense | 32/32 | - | 1 |
21-34003497-T-C | c.4647A>G | p.Ser1549Ser | Synonymous | 32/32 | - | 1 |
21-34003502-T-C | c.4642A>G | p.Ser1548Gly | Missense | 32/32 | - | 1 |
21-34003502-T-G | c.4642A>C | p.Ser1548Arg | Missense | 32/32 | - | 1 |
21-34003504-G-A | c.4640C>T | p.Pro1547Leu | Missense | 32/32 | - | 1 |
21-34003511-T-C | c.4633A>G | p.Asn1545Asp | Missense | 32/32 | - | 1 |
21-34003511-T-G | c.4633A>C | p.Asn1545His | Missense | 32/32 | - | 1 |
21-34003513-C-A | c.4631G>T | p.Gly1544Val | Missense | 32/32 | - | 1 |
21-34003513-C-T | c.4631G>A | p.Gly1544Asp | Missense | 32/32 | - | 1 |
21-34003517-G-A | c.4627C>T | p.Leu1543Leu | Synonymous | 32/32 | - | 1 |
21-34003517-G-T | c.4627C>A | p.Leu1543Met | Missense | 32/32 | - | 1 |
21-34003521-G-C | c.4623C>G | p.Asp1541Glu | Missense | 32/32 | - | 1 |
21-34003521-G-T | c.4623C>A | p.Asp1541Glu | Missense | 32/32 | - | 1 |
21-34003532-C-A | c.4612G>T | p.Ala1538Ser | Missense | 32/32 | - | 1 |
21-34003532-C-G | c.4612G>C | p.Ala1538Pro | Missense | 32/32 | - | 1 |
21-34003539-T-C | c.4605A>G | p.Ser1535Ser | Synonymous | 32/32 | - | 1 |
21-34003539-T-G | c.4605A>C | p.Ser1535Ser | Synonymous | 32/32 | - | 1 |
21-34003540-G-C | c.4604C>G | p.Ser1535* | Nonsense | 32/32 | - | 1 |
21-34003541-A-C | c.4603T>G | p.Ser1535Ala | Missense | 32/32 | - | 1 |
21-34003541-A-T | c.4603T>A | p.Ser1535Thr | Missense | 32/32 | - | 1 |
21-34003542-C-T | c.4602G>A | p.Lys1534Lys | Synonymous | 32/32 | - | 1 |
21-34003556-C-T | c.4588G>A | p.Gly1530Ser | Missense | 32/32 | - | 1 |
21-34003561-T-A | c.4583A>T | p.Asp1528Val | Missense | 32/32 | - | 1 |
21-34003562-C-T | c.4582G>A | p.Asp1528Asn | Missense | 32/32 | - | 1 |
21-34003563-C-T | c.4581G>A | p.Glu1527Glu | Synonymous | 32/32 | - | 1 |
21-34003574-C-T | c.4570G>A | p.Glu1524Lys | Missense | 32/32 | - | 1 |
21-34003575-G-A | c.4569C>T | p.Phe1523Phe | Synonymous | 32/32 | - | 1 |
21-34003585-C-T | c.4559G>A | p.Trp1520* | Nonsense | 32/32 | - | 1 |
21-34003593-C-T | c.4551G>A | p.Pro1517Pro | Synonymous | 32/32 | - | 1 |
21-34003594-G-A | c.4550C>T | p.Pro1517Leu | Missense | 32/32 | - | 1 |
21-34003594-G-C | c.4550C>G | p.Pro1517Arg | Missense | 32/32 | - | 1 |
21-34003602-A-G | c.4542T>C | p.Ile1514Ile | Synonymous | 32/32 | - | 1 |
21-34003611-T-A | c.4533A>T | p.Thr1511Thr | Synonymous | 32/32 | - | 1 |
21-34003611-T-C | c.4533A>G | p.Thr1511Thr | Synonymous | 32/32 | - | 1 |
21-34003614-A-G | c.4530T>C | p.Ser1510Ser | Synonymous | 32/32 | - | 1 |
21-34003617-C-T | c.4527G>A | p.Gln1509Gln | Synonymous | 32/32 | - | 1 |
21-34003618-T-A | c.4526A>T | p.Gln1509Leu | Missense | 32/32 | - | 1 |
21-34003619-G-A | c.4525C>T | p.Gln1509* | Nonsense | 32/32 | - | 1 |
21-34003624-T-G | c.4520A>C | p.Gln1507Pro | Missense | 32/32 | - | 1 |
21-34003625-G-A | c.4519C>T | p.Gln1507* | Nonsense | 32/32 | - | 1 |
21-34003630-T-A | c.4514A>T | p.Asp1505Val | Missense | 32/32 | - | 1 |
21-34003631-C-G | c.4513G>C | p.Asp1505His | Missense | 32/32 | - | 1 |
21-34003631-C-T | c.4513G>A | p.Asp1505Asn | Missense | 32/32 | - | 1 |
21-34003634-A-G | c.4510T>C | p.Phe1504Leu | Missense | 32/32 | - | 1 |
21-34003641-C-T | c.4503G>A | p.Lys1501Lys | Synonymous | 32/32 | - | 1 |
21-34003646-A-G | c.4498T>C | p.Phe1500Leu | Missense | 32/32 | - | 1 |
21-34003648-C-T | c.4496G>A | p.Gly1499Asp | Missense | 32/32 | - | 1 |
21-34003651-T-C | c.4493A>G | p.Asp1498Gly | Missense | 32/32 | - | 1 |
21-34003654-A-G | c.4490T>C | p.Leu1497Pro | Missense | 32/32 | - | 1 |
21-34003655-G-A | c.4489C>T | p.Leu1497Phe | Missense | 32/32 | - | 1 |
21-34003660-G-A | c.4484C>T | p.Ser1495Phe | Missense | 32/32 | - | 1 |
21-34003662-T-C | c.4482A>G | p.Ser1494Ser | Synonymous | 32/32 | - | 1 |
21-34003665-A-G | c.4479T>C | p.Ala1493Ala | Synonymous | 32/32 | - | 1 |
21-34003666-G-T | c.4478C>A | p.Ala1493Asp | Missense | 32/32 | - | 1 |
21-34003672-C-T | c.4472G>A | p.Ser1491Asn | Missense | 32/32 | - | 1 |
21-34003690-G-A | c.4454C>T | p.Pro1485Leu | Missense | 32/32 | - | 1 |
21-34003704-G-A | c.4440C>T | p.Phe1480Phe | Synonymous | 32/32 | - | 1 |
21-34003719-A-G | c.4425T>C | p.Val1475Val | Synonymous | 32/32 | - | 1 |
21-34003722-G-A | c.4422C>T | p.Pro1474Pro | Synonymous | 32/32 | - | 1 |
21-34003725-C-T | c.4419G>A | p.Glu1473Glu | Synonymous | 32/32 | - | 1 |
21-34003737-G-A | c.4407C>T | p.Phe1469Phe | Synonymous | 32/32 | - | 1 |
21-34003744-G-A | c.4400C>T | p.Ser1467Leu | Missense | 32/32 | - | 1 |
21-34003744-G-T | c.4400C>A | p.Ser1467* | Nonsense | 32/32 | - | 1 |
21-34003745-A-T | c.4399T>A | p.Ser1467Thr | Missense | 32/32 | - | 1 |
21-34003779-T-C | c.4365A>G | p.Pro1455Pro | Synonymous | 32/32 | - | 1 |
21-34003782-G-A | c.4362C>T | p.Asn1454Asn | Synonymous | 32/32 | - | 1 |
21-34003786-C-T | c.4358G>A | p.Gly1453Glu | Missense | 32/32 | - | 2 |
21-34003790-G-A | c.4354C>T | p.Pro1452Ser | Missense | 32/32 | - | 1 |
21-34003795-G-A | c.4349C>T | p.Ala1450Val | Missense | 32/32 | - | 1 |
21-34003796-C-G | c.4348G>C | p.Ala1450Pro | Missense | 32/32 | - | 1 |
21-34003800-C-T | c.4344G>A | p.Arg1448Arg | Synonymous | 32/32 | - | 1 |
21-34003803-G-A | c.4341C>T | p.Asp1447Asp | Synonymous | 32/32 | - | 1 |
21-34003803-G-T | c.4341C>A | p.Asp1447Glu | Missense | 32/32 | - | 1 |
21-34003806-A-C | c.4338T>G | p.Ser1446Arg | Missense | 32/32 | - | 1 |
21-34003808-T-A | c.4336A>T | p.Ser1446Cys | Missense | 32/32 | - | 1 |
21-34003808-T-C | c.4336A>G | p.Ser1446Gly | Missense | 32/32 | - | 1 |
21-34003824-G-C | c.4320C>G | p.Thr1440Thr | Synonymous | 32/32 | - | 1 |
21-34003833-A-G | c.4311T>C | p.Thr1437Thr | Synonymous | 32/32 | - | 1 |
21-34003837-A-C | c.4307T>G | p.Ile1436Ser | Missense | 32/32 | - | 1 |
21-34003838-T-C | c.4306A>G | p.Ile1436Val | Missense | 32/32 | - | 1 |
21-34003845-G-A | c.4299C>T | p.Asn1433Asn | Synonymous | 32/32 | - | 1 |
21-34003850-G-T | c.4294C>A | p.Pro1432Thr | Missense | 32/32 | - | 1 |
21-34003851-A-G | c.4293T>C | p.Ser1431Ser | Synonymous | 32/32 | - | 1 |
21-34003858-C-A | c.4286G>T | p.Arg1429Leu | Missense | 32/32 | - | 1 |
21-34003858-C-T | c.4286G>A | p.Arg1429Gln | Missense | 32/32 | - | 1 |
21-34003859-G-A | c.4285C>T | p.Arg1429* | Nonsense | 32/32 | - | 1 |
21-34003859-G-C | c.4285C>G | p.Arg1429Gly | Missense | 32/32 | - | 1 |
21-34003865-T-C | c.4279A>G | p.Asn1427Asp | Missense | 32/32 | - | 1 |
21-34003880-T-G | c.4264A>C | p.Ser1422Arg | Missense | 32/32 | - | 2 |
21-34003881-C-A | c.4263G>T | p.Arg1421Arg | Synonymous | 32/32 | - | 1 |
21-34003881-C-G | c.4263G>C | p.Arg1421Arg | Synonymous | 32/32 | - | 1 |
21-34003881-C-T | c.4263G>A | p.Arg1421Arg | Synonymous | 32/32 | - | 1 |
21-34003882-C-T | c.4262G>A | p.Arg1421Gln | Missense | 32/32 | - | 1 |
21-34003883-G-A | c.4261C>T | p.Arg1421Trp | Missense | 32/32 | - | 1 |
21-34003885-G-A | c.4259C>T | p.Ala1420Val | Missense | 32/32 | - | 1 |
21-34003892-T-C | c.4252A>G | p.Ile1418Val | Missense | 32/32 | - | 1 |
21-34003901-T-C | c.4243A>G | p.Met1415Val | Missense | 32/32 | - | 1 |
21-34003903-G-A | c.4241C>T | p.Thr1414Ile | Missense | 32/32 | - | 1 |
21-34003907-G-A | c.4237C>T | p.Pro1413Ser | Missense | 32/32 | - | 1 |
21-34003909-A-G | c.4235T>C | p.Met1412Thr | Missense | 32/32 | - | 1 |
21-34003915-C-T | c.4229G>A | p.Ser1410Asn | Missense | 32/32 | - | 1 |
21-34003926-C-CG | c.4217_4218insC | p.Leu1406Phefs*42 | Frameshift | 32/32 | - | 1 |
21-34003926-C-T | c.4218G>A | p.Leu1406Leu | Synonymous | 32/32 | - | 1 |
21-34003927-A-G | c.4217T>C | p.Leu1406Ser | Missense | 32/32 | - | 1 |
21-34003928-A-AGTATTA | c.4216_4217insAATACT | p.Val1405_Leu1406ins* | Nonsense | 32/32 | - | 1 |
21-34003928-A-G | c.4216T>C | p.Leu1406Leu | Synonymous | 32/32 | - | 1 |
21-34003929-A-AGTAATA | c.4215_4216insATTACT | p.Val1405_Leu1406insIleThr | InFrameInsertion | 32/32 | - | 1 |
21-34003929-A-AGTACTA | c.4215_4216insAGTACT | p.Val1405_Leu1406insSerThr | InFrameInsertion | 32/32 | - | 1 |
21-34003929-A-AGTATTA | c.4215_4216insAATACT | p.Val1405_Leu1406insAsnThr | InFrameInsertion | 32/32 | - | 1 |
21-34003929-A-ATTA | c.4215_4216insAAT | p.Val1405_Leu1406insAsn | InFrameInsertion | 32/32 | - | 1 |
21-34003930-A-G | c.4214T>C | p.Val1405Ala | Missense | 32/32 | - | 1 |
21-34003931-C-T | c.4213G>A | p.Val1405Ile | Missense | 32/32 | - | 2 |
21-34003938-T-A | c.4206A>T | p.Gln1402His | Missense | 32/32 | - | 1 |
21-34003941-C-T | c.4203G>A | p.Thr1401Thr | Synonymous | 32/32 | - | 1 |
21-34003953-C-A | c.4191G>T | p.Leu1397Phe | Missense | 32/32 | - | 1 |
21-34003967-T-G | c.4177A>C | p.Arg1393Arg | Synonymous | 32/32 | - | 1 |
21-34003973-G-A | c.4171C>T | p.Pro1391Ser | Missense | 32/32 | - | 1 |
21-34003973-G-T | c.4171C>A | p.Pro1391Thr | Missense | 32/32 | - | 1 |
21-34003983-G-T | c.4161C>A | p.Pro1387Pro | Synonymous | 32/32 | - | 1 |
21-34003990-G-A | c.4154C>T | p.Pro1385Leu | Missense | 32/32 | - | 1 |
21-34003991-G-A | c.4153C>T | p.Pro1385Ser | Missense | 32/32 | - | 1 |
21-34003995-C-T | c.4149G>A | p.Thr1383Thr | Synonymous | 32/32 | - | 1 |
21-34003996-G-A | c.4148C>T | p.Thr1383Met | Missense | 32/32 | - | 1 |
21-34004006-A-G | c.4138T>C | p.Ser1380Pro | Missense | 32/32 | - | 1 |
21-34004007-T-C | c.4137A>G | p.Leu1379Leu | Synonymous | 32/32 | - | 1 |
21-34004010-C-A | c.4134G>T | p.Gln1378His | Missense | 32/32 | - | 1 |
21-34004010-C-G | c.4134G>C | p.Gln1378His | Missense | 32/32 | - | 1 |
21-34004016-C-G | c.4128G>C | p.Lys1376Asn | Missense | 32/32 | - | 1 |
21-34004016-C-T | c.4128G>A | p.Lys1376Lys | Synonymous | 32/32 | - | 1 |
21-34004018-T-C | c.4126A>G | p.Lys1376Glu | Missense | 32/32 | - | 1 |
21-34004040-T-C | c.4104A>G | p.Ser1368Ser | Synonymous | 32/32 | - | 1 |
21-34004058-G-A | c.4086C>T | p.Asp1362Asp | Synonymous | 32/32 | - | 1 |
21-34004060-C-A | c.4084G>T | p.Asp1362Tyr | Missense | 32/32 | - | 1 |
21-34004061-A-C | c.4083T>G | p.Ile1361Met | Missense | 32/32 | - | 1 |
21-34004074-G-A | c.4070C>T | p.Ser1357Leu | Missense | 32/32 | - | 1 |
21-34004094-G-A | c.4050C>T | p.Ile1350Ile | Synonymous | 32/32 | - | 1 |
21-34004094-G-T | c.4050C>A | p.Ile1350Ile | Synonymous | 32/32 | - | 1 |
21-34004105-T-C | c.4039A>G | p.Thr1347Ala | Missense | 32/32 | - | 1 |
21-34004106-T-C | c.4038A>G | p.Lys1346Lys | Synonymous | 32/32 | - | 1 |
21-34004111-C-T | c.4033G>A | p.Val1345Ile | Missense | 32/32 | - | 2 |
21-34005200-C-A | c.4033-1089G>T | - | IntronicSNV | - | 31/31 | 1 |
21-34005200-C-G | c.4033-1089G>C | - | IntronicSNV | - | 31/31 | 1 |
21-34005200-C-T | c.4033-1089G>A | - | IntronicSNV | - | 31/31 | 1 |
21-34006917-T-G | c.4033-2806A>C | - | IntronicSNV | - | 31/31 | 1 |
21-34007186-T-C | c.4033-3075A>G | - | IntronicSNV | - | 31/31 | 1 |
21-34007190-T-C | c.4033-3079A>G | - | IntronicSNV | - | 31/31 | 1 |
21-34007199-G-A | c.4033-3088C>T | - | IntronicSNV | - | 31/31 | 1 |
21-34007201-G-C | c.4033-3090C>G | - | IntronicSNV | - | 31/31 | 1 |
21-34011213-C-A | c.4032+5G>T | - | IntronicSNV | - | 31/31 | 1 |
21-34011213-C-T | c.4032+5G>A | - | IntronicSNV | - | 31/31 | 1 |
21-34011215-T-A | c.4032+3A>T | - | IntronicSNV | - | 31/31 | 1 |
21-34011219-T-C | c.4031A>G | p.Gln1344Arg | Missense | 31/32 | - | 1 |
21-34011221-C-A | c.4029G>T | p.Pro1343Pro | Synonymous | 31/32 | - | 1 |
21-34011221-C-T | c.4029G>A | p.Pro1343Pro | Synonymous | 31/32 | - | 1 |
21-34011222-G-A | c.4028C>T | p.Pro1343Leu | Missense | 31/32 | - | 1 |
21-34011222-G-C | c.4028C>G | p.Pro1343Arg | Missense | 31/32 | - | 1 |
21-34011225-T-C | c.4025A>G | p.Gln1342Arg | Missense | 31/32 | - | 1 |
21-34011249-C-T | c.4001G>A | p.Ser1334Asn | Missense | 31/32 | - | 1 |
21-34011253-G-A | c.3997C>T | p.His1333Tyr | Missense | 31/32 | - | 1 |
21-34011257-T-A | c.3993A>T | p.Ser1331Ser | Synonymous | 31/32 | - | 1 |
21-34011260-C-A | c.3990G>T | p.Arg1330Ser | Missense | 31/32 | - | 1 |
21-34011260-C-G | c.3990G>C | p.Arg1330Ser | Missense | 31/32 | - | 1 |
21-34011260-C-T | c.3990G>A | p.Arg1330Arg | Synonymous | 31/32 | - | 1 |
21-34011261-C-G | c.3989G>C | p.Arg1330Thr | Missense | 31/32 | - | 1 |
21-34011267-C-G | c.3983G>C | p.Arg1328Pro | Missense | 31/32 | - | 1 |
21-34011267-C-T | c.3983G>A | p.Arg1328Gln | Missense | 31/32 | - | 1 |
21-34011283-G-C | c.3967C>G | p.Pro1323Ala | Missense | 31/32 | - | 1 |
21-34011286-G-C | c.3964C>G | p.Pro1322Ala | Missense | 31/32 | - | 1 |
21-34011295-A-T | c.3955T>A | p.Leu1319Met | Missense | 31/32 | - | 1 |
21-34011297-T-C | c.3953A>G | p.Asn1318Ser | Missense | 31/32 | - | 1 |
21-34011299-T-A | c.3951A>T | p.Pro1317Pro | Synonymous | 31/32 | - | 1 |
21-34011301-G-T | c.3949C>A | p.Pro1317Thr | Missense | 31/32 | - | 1 |
21-34011306-G-A | c.3944C>T | p.Pro1315Leu | Missense | 31/32 | - | 1 |
21-34011314-C-A | c.3936G>T | p.Gln1312His | Missense | 31/32 | - | 1 |
21-34011322-T-C | c.3928A>G | p.Met1310Val | Missense | 31/32 | - | 1 |
21-34011325-G-T | c.3925C>A | p.Pro1309Thr | Missense | 31/32 | - | 1 |
21-34011326-T-G | c.3924A>C | p.Ala1308Ala | Synonymous | 31/32 | - | 1 |
21-34011336-G-A | c.3914C>T | p.Pro1305Leu | Missense | 31/32 | - | 1 |
21-34011336-G-C | c.3914C>G | p.Pro1305Arg | Missense | 31/32 | - | 1 |
21-34011344-A-C | c.3906T>G | p.Pro1302Pro | Synonymous | 31/32 | - | 1 |
21-34011345-G-A | c.3905C>T | p.Pro1302Leu | Missense | 31/32 | - | 1 |
21-34011346-G-A | c.3904C>T | p.Pro1302Ser | Missense | 31/32 | - | 1 |
21-34011347-C-T | c.3903G>A | p.Glu1301Glu | Synonymous | 31/32 | - | 1 |
21-34011353-C-A | c.3897G>T | p.Leu1299Phe | Missense | 31/32 | - | 1 |
21-34011363-G-T | c.3887C>A | p.Ala1296Asp | Missense | 31/32 | - | 1 |
21-34011366-G-A | c.3884C>T | p.Pro1295Leu | Missense | 31/32 | - | 1 |
21-34011367-G-A | c.3883C>T | p.Pro1295Ser | Missense | 31/32 | - | 1 |
21-34011367-G-T | c.3883C>A | p.Pro1295Thr | Missense | 31/32 | - | 1 |
21-34011368-C-T | c.3882G>A | p.Pro1294Pro | Synonymous | 31/32 | - | 1 |
21-34011369-G-A | c.3881C>T | p.Pro1294Leu | Missense | 31/32 | - | 1 |
21-34011369-G-C | c.3881C>G | p.Pro1294Arg | Missense | 31/32 | - | 1 |
21-34011371-G-A | c.3879C>T | p.Pro1293Pro | Synonymous | 31/32 | - | 1 |
21-34011373-G-A | c.3877C>T | p.Pro1293Ser | Missense | 31/32 | - | 1 |
21-34011378-G-A | c.3872C>T | p.Ser1291Phe | Missense | 31/32 | - | 1 |
21-34011380-A-C | c.3870T>G | p.Ser1290Ser | Synonymous | 31/32 | - | 1 |
21-34011381-G-C | c.3869C>G | p.Ser1290Cys | Missense | 31/32 | - | 1 |
21-34011386-C-A | c.3864G>T | p.Pro1288Pro | Synonymous | 31/32 | - | 1 |
21-34011386-C-T | c.3864G>A | p.Pro1288Pro | Synonymous | 31/32 | - | 1 |
21-34011387-G-A | c.3863C>T | p.Pro1288Leu | Missense | 31/32 | - | 1 |
21-34011387-G-C | c.3863C>G | p.Pro1288Arg | Missense | 31/32 | - | 1 |
21-34011390-G-C | c.3860C>G | p.Pro1287Arg | Missense | 31/32 | - | 1 |
21-34011391-G-A | c.3859C>T | p.Pro1287Ser | Missense | 31/32 | - | 1 |
21-34011401-C-T | c.3849G>A | p.Gln1283Gln | Synonymous | 31/32 | - | 1 |
21-34011411-A-G | c.3839T>C | p.Leu1280Pro | Missense | 31/32 | - | 1 |
21-34011412-G-A | c.3838C>T | p.Leu1280Leu | Synonymous | 31/32 | - | 1 |
21-34011412-G-T | c.3838C>A | p.Leu1280Met | Missense | 31/32 | - | 1 |
21-34011414-G-A | c.3836C>T | p.Pro1279Leu | Missense | 31/32 | - | 1 |
21-34011415-G-A | c.3835C>T | p.Pro1279Ser | Missense | 31/32 | - | 1 |
21-34011430-T-A | c.3820A>T | p.Thr1274Ser | Missense | 31/32 | - | 1 |
21-34011430-T-C | c.3820A>G | p.Thr1274Ala | Missense | 31/32 | - | 1 |
21-34011985-C-A | c.3810G>T | p.Ser1270Ser | Synonymous | 30/32 | - | 1 |
21-34011985-C-T | c.3810G>A | p.Ser1270Ser | Synonymous | 30/32 | - | 1 |
21-34011987-A-G | c.3808T>C | p.Ser1270Pro | Missense | 30/32 | - | 1 |
21-34011989-G-A | c.3806C>T | p.Thr1269Met | Missense | 30/32 | - | 1 |
21-34011994-T-C | c.3801A>G | p.Ser1267Ser | Synonymous | 30/32 | - | 1 |
21-34012018-A-G | c.3777T>C | p.Thr1259Thr | Synonymous | 30/32 | - | 1 |
21-34012026-T-C | c.3769A>G | p.Arg1257Gly | Missense | 30/32 | - | 1 |
21-34012032-C-A | c.3763G>T | p.Ala1255Ser | Missense | 30/32 | - | 1 |
21-34012032-C-T | c.3763G>A | p.Ala1255Thr | Missense | 30/32 | - | 1 |
21-34012038-C-T | c.3757G>A | p.Ala1253Thr | Missense | 30/32 | - | 1 |
21-34012039-C-T | c.3756G>A | p.Arg1252Arg | Synonymous | 30/32 | - | 1 |
21-34012040-C-T | c.3755G>A | p.Arg1252Gln | Missense | 30/32 | - | 1 |
21-34012041-G-A | c.3754C>T | p.Arg1252Trp | Missense | 30/32 | - | 1 |
21-34012041-G-C | c.3754C>G | p.Arg1252Gly | Missense | 30/32 | - | 1 |
21-34012042-C-T | c.3753G>A | p.Ala1251Ala | Synonymous | 30/32 | - | 1 |
21-34012043-G-A | c.3752C>T | p.Ala1251Val | Missense | 30/32 | - | 1 |
21-34012043-G-C | c.3752C>G | p.Ala1251Gly | Missense | 30/32 | - | 1 |
21-34012043-G-T | c.3752C>A | p.Ala1251Glu | Missense | 30/32 | - | 1 |
21-34012044-C-T | c.3751G>A | p.Ala1251Thr | Missense | 30/32 | - | 1 |
21-34012045-G-A | c.3750C>T | p.His1250His | Synonymous | 30/32 | - | 1 |
21-34012056-G-A | c.3739C>T | p.Pro1247Ser | Missense | 30/32 | - | 1 |
21-34012064-A-G | c.3731T>C | p.Ile1244Thr | Missense | 30/32 | - | 1 |
21-34012074-C-A | c.3721G>T | p.Ala1241Ser | Missense | 30/32 | - | 1 |
21-34012076-C-T | c.3719G>A | p.Arg1240His | Missense | 30/32 | - | 1 |
21-34012077-G-A | c.3718C>T | p.Arg1240Cys | Missense | 30/32 | - | 1 |
21-34012083-G-A | c.3712C>T | p.Pro1238Ser | Missense | 30/32 | - | 1 |
21-34012087-C-T | c.3708G>A | p.Thr1236Thr | Synonymous | 30/32 | - | 1 |
21-34012088-G-A | c.3707C>T | p.Thr1236Met | Missense | 30/32 | - | 4 |
21-34012092-A-T | c.3706-3T>A | - | IntronicSNV | - | 29/31 | 1 |
21-34014192-G-A | c.3705+14C>T | - | IntronicSNV | - | 29/31 | 2 |
21-34014207-G-A | c.3704C>T | p.Pro1235Leu | Missense | 29/32 | - | 1 |
21-34014207-G-C | c.3704C>G | p.Pro1235Arg | Missense | 29/32 | - | 1 |
21-34014207-G-T | c.3704C>A | p.Pro1235Gln | Missense | 29/32 | - | 1 |
21-34014213-G-C | c.3698C>G | p.Ala1233Gly | Missense | 29/32 | - | 1 |
21-34014214-C-G | c.3697G>C | p.Ala1233Pro | Missense | 29/32 | - | 1 |
21-34014215-T-C | c.3696A>G | p.Thr1232Thr | Synonymous | 29/32 | - | 1 |
21-34014219-C-A | c.3692G>T | p.Ser1231Ile | Missense | 29/32 | - | 1 |
21-34014220-T-C | c.3691A>G | p.Ser1231Gly | Missense | 29/32 | - | 1 |
21-34014236-T-A | c.3675A>T | p.Pro1225Pro | Synonymous | 29/32 | - | 1 |
21-34014236-T-C | c.3675A>G | p.Pro1225Pro | Synonymous | 29/32 | - | 1 |
21-34014238-G-A | c.3673C>T | p.Pro1225Ser | Missense | 29/32 | - | 1 |
21-34014238-G-C | c.3673C>G | p.Pro1225Ala | Missense | 29/32 | - | 1 |
21-34014243-G-A | c.3668C>T | p.Ala1223Val | Missense | 29/32 | - | 1 |
21-34014244-C-G | c.3667G>C | p.Ala1223Pro | Missense | 29/32 | - | 1 |
21-34014248-T-A | c.3663A>T | p.Gly1221Gly | Synonymous | 29/32 | - | 1 |
21-34014248-T-C | c.3663A>G | p.Gly1221Gly | Synonymous | 29/32 | - | 1 |
21-34014252-G-C | c.3659C>G | p.Ala1220Gly | Missense | 29/32 | - | 1 |
21-34014259-G-A | c.3652C>T | p.Pro1218Ser | Missense | 29/32 | - | 1 |
21-34014273-C-T | c.3638G>A | p.Arg1213His | Missense | 29/32 | - | 1 |
21-34014282-A-AA | c.3635-5dup | - | IntronicInsertion | - | 28/31 | 1 |
21-34014283-C-A | c.3635-7G>T | - | IntronicSNV | - | 28/31 | 2 |
21-34014408-T-C | c.3631A>G | p.Ile1211Val | Missense | 28/32 | - | 1 |
21-34014422-G-A | c.3617C>T | p.Thr1206Ile | Missense | 28/32 | - | 1 |
21-34014423-T-C | c.3616A>G | p.Thr1206Ala | Missense | 28/32 | - | 1 |
21-34014425-GT-GA | c.3613delinsT | p.Thr1205Ser | Missense | 28/32 | - | 1 |
21-34014426-T-C | c.3613A>G | p.Thr1205Ala | Missense | 28/32 | - | 1 |
21-34014429-C-G | c.3610G>C | p.Gly1204Arg | Missense | 28/32 | - | 2 |
21-34014432-G-A | c.3607C>T | p.Pro1203Ser | Missense | 28/32 | - | 1 |
21-34014434-CT-GC | c.3604_3605delinsGC | p.Ser1202Ala | Missense | 28/32 | - | 1 |
21-34014437-T-C | c.3602A>G | p.Lys1201Arg | Missense | 28/32 | - | 1 |
21-34014768-C-T | c.3596-325G>A | - | IntronicSNV | - | 27/31 | 2 |
21-34015723-C-T | c.3592G>A | p.Glu1198Lys | Missense | 27/32 | - | 1 |
21-34015735-T-C | c.3580A>G | p.Arg1194Gly | Missense | 27/32 | - | 1 |
21-34015746-G-A | c.3569C>T | p.Pro1190Leu | Missense | 27/32 | - | 1 |
21-34015750-T-C | c.3565A>G | p.Ser1189Gly | Missense | 27/32 | - | 1 |
21-34015758-G-A | c.3557C>T | p.Ala1186Val | Missense | 27/32 | - | 1 |
21-34015763-A-G | c.3552T>C | p.Ile1184Ile | Synonymous | 27/32 | - | 1 |
21-34015765-T-C | c.3550A>G | p.Ile1184Val | Missense | 27/32 | - | 1 |
21-34015767-C-T | c.3548G>A | p.Gly1183Asp | Missense | 27/32 | - | 1 |
21-34015771-T-C | c.3548-4A>G | - | IntronicSNV | - | 26/31 | 1 |
21-34015774-A-G | c.3548-7T>C | - | IntronicSNV | - | 26/31 | 1 |
21-34015775-G-T | c.3548-8C>A | - | IntronicSNV | - | 26/31 | 1 |
21-34017281-C-T | c.3544G>A | p.Gly1182Arg | Missense | 26/32 | - | 1 |
21-34017293-T-C | c.3532A>G | p.Arg1178Gly | Missense | 26/32 | - | 1 |
21-34017295-G-C | c.3530C>G | p.Thr1177Ser | Missense | 26/32 | - | 1 |
21-34017296-T-C | c.3529A>G | p.Thr1177Ala | Missense | 26/32 | - | 1 |
21-34017296-T-G | c.3529A>C | p.Thr1177Pro | Missense | 26/32 | - | 1 |
21-34017298-G-A | c.3527C>T | p.Pro1176Leu | Missense | 26/32 | - | 1 |
21-34017305-G-A | c.3520C>T | p.Pro1174Ser | Missense | 26/32 | - | 1 |
21-34017321-T-A | c.3509-5A>T | - | IntronicSNV | - | 25/31 | 1 |
21-34017321-T-C | c.3509-5A>G | - | IntronicSNV | - | 25/31 | 1 |
21-34017324-T-A | c.3509-8A>T | - | IntronicSNV | - | 25/31 | 1 |
21-34017948-G-A | c.3508+8C>T | - | IntronicSNV | - | 25/31 | 1 |
21-34017950-T-G | c.3508+6A>C | - | IntronicSNV | - | 25/31 | 1 |
21-34017963-C-T | c.3501G>A | p.Pro1167Pro | Synonymous | 25/32 | - | 1 |
21-34017964-G-C | c.3500C>G | p.Pro1167Arg | Missense | 25/32 | - | 1 |
21-34017964-G-T | c.3500C>A | p.Pro1167Gln | Missense | 25/32 | - | 1 |
21-34017965-G-T | c.3499C>A | p.Pro1167Thr | Missense | 25/32 | - | 1 |
21-34017969-A-T | c.3495T>A | p.Pro1165Pro | Synonymous | 25/32 | - | 1 |
21-34017977-G-C | c.3487C>G | p.Gln1163Glu | Missense | 25/32 | - | 2 |
21-34017978-T-C | c.3486A>G | p.Pro1162Pro | Synonymous | 25/32 | - | 1 |
21-34017978-T-G | c.3486A>C | p.Pro1162Pro | Synonymous | 25/32 | - | 1 |
21-34017979-G-C | c.3485C>G | p.Pro1162Arg | Missense | 25/32 | - | 1 |
21-34017985-G-A | c.3479C>T | p.Ala1160Val | Missense | 25/32 | - | 1 |
21-34017988-G-A | c.3476C>T | p.Pro1159Leu | Missense | 25/32 | - | 1 |
21-34017988-G-T | c.3476C>A | p.Pro1159Gln | Missense | 25/32 | - | 1 |
21-34017994-G-A | c.3470C>T | p.Thr1157Ile | Missense | 25/32 | - | 1 |
21-34018000-G-A | c.3464C>T | p.Pro1155Leu | Missense | 25/32 | - | 1 |
21-34018001-G-T | c.3463C>A | p.Pro1155Thr | Missense | 25/32 | - | 1 |
21-34018004-C-T | c.3460G>A | p.Ala1154Thr | Missense | 25/32 | - | 1 |
21-34018007-C-T | c.3457G>A | p.Val1153Ile | Missense | 25/32 | - | 1 |
21-34018014-G-C | c.3450C>G | p.Pro1150Pro | Synonymous | 25/32 | - | 1 |
21-34018016-G-T | c.3448C>A | p.Pro1150Thr | Missense | 25/32 | - | 1 |
21-34018023-C-T | c.3441G>A | p.Pro1147Pro | Synonymous | 25/32 | - | 1 |
21-34018024-G-A | c.3440C>T | p.Pro1147Leu | Missense | 25/32 | - | 1 |
21-34018046-G-C | c.3418C>G | p.Gln1140Glu | Missense | 25/32 | - | 1 |
21-34018049-C-T | c.3415G>A | p.Ala1139Thr | Missense | 25/32 | - | 1 |
21-34018062-C-A | c.3402G>T | p.Pro1134Pro | Synonymous | 25/32 | - | 1 |
21-34018062-C-T | c.3402G>A | p.Pro1134Pro | Synonymous | 25/32 | - | 1 |
21-34018063-G-A | c.3401C>T | p.Pro1134Leu | Missense | 25/32 | - | 1 |
21-34018081-T-C | c.3383A>G | p.Gln1128Arg | Missense | 25/32 | - | 1 |
21-34018095-GAGAAC-G | c.3365_3369del | p.Ser1122Thrfs*3 | SpliceAcceptorDeletion | 25/32 | - | 1 |
21-34018101-T-C | c.3365-2A>G | - | IntronicSNV | - | 24/31 | 1 |
21-34018105-A-C | c.3365-6T>G | - | IntronicSNV | - | 24/31 | 1 |
21-34018105-A-G | c.3365-6T>C | - | IntronicSNV | - | 24/31 | 1 |
21-34018703-T-C | c.3364A>G | p.Ser1122Gly | Missense | 24/32 | - | 1 |
21-34018713-G-A | c.3354C>T | p.Pro1118Pro | Synonymous | 24/32 | - | 1 |
21-34018722-A-G | c.3345T>C | p.Pro1115Pro | Synonymous | 24/32 | - | 1 |
21-34018723-G-C | c.3344C>G | p.Pro1115Arg | Missense | 24/32 | - | 1 |
21-34018726-G-A | c.3341C>T | p.Thr1114Ile | Missense | 24/32 | - | 1 |
21-34018735-G-T | c.3332C>A | p.Pro1111Gln | Missense | 24/32 | - | 1 |
21-34018740-T-C | c.3327A>G | p.Arg1109Arg | Synonymous | 24/32 | - | 1 |
21-34018741-C-T | c.3326G>A | p.Arg1109Gln | Missense | 24/32 | - | 1 |
21-34018745-T-C | c.3322A>G | p.Ser1108Gly | Missense | 24/32 | - | 1 |
21-34018754-T-C | c.3313A>G | p.Ile1105Val | Missense | 24/32 | - | 1 |
21-34018755-G-A | c.3312C>T | p.Pro1104Pro | Synonymous | 24/32 | - | 1 |
21-34018756-G-A | c.3311C>T | p.Pro1104Leu | Missense | 24/32 | - | 1 |
21-34018756-G-C | c.3311C>G | p.Pro1104Arg | Missense | 24/32 | - | 1 |
21-34018756-G-T | c.3311C>A | p.Pro1104His | Missense | 24/32 | - | 1 |
21-34018757-G-A | c.3310C>T | p.Pro1104Ser | Missense | 24/32 | - | 1 |
21-34018763-A-G | c.3304T>C | p.Ser1102Pro | Missense | 24/32 | - | 1 |
21-34018769-C-A | c.3298G>T | p.Val1100Leu | Missense | 24/32 | - | 1 |
21-34018770-A-G | c.3297T>C | p.Pro1099Pro | Synonymous | 24/32 | - | 1 |
21-34018778-C-T | c.3289G>A | p.Glu1097Lys | Missense | 24/32 | - | 1 |
21-34018780-G-A | c.3287C>T | p.Ser1096Leu | Missense | 24/32 | - | 1 |
21-34018783-A-C | c.3284T>G | p.Ile1095Arg | Missense | 24/32 | - | 1 |
21-34018797-G-A | c.3270C>T | p.Cys1090Cys | Synonymous | 24/32 | - | 1 |
21-34018800-G-C | c.3267C>G | p.Pro1089Pro | Synonymous | 24/32 | - | 1 |
21-34018806-A-C | c.3261T>G | p.Thr1087Thr | Synonymous | 24/32 | - | 1 |
21-34018806-A-G | c.3261T>C | p.Thr1087Thr | Synonymous | 24/32 | - | 1 |
21-34018811-G-C | c.3256C>G | p.Arg1086Gly | Missense | 24/32 | - | 1 |
21-34018827-G-A | c.3240C>T | p.Ser1080Ser | Synonymous | 24/32 | - | 1 |
21-34018828-G-C | c.3239C>G | p.Ser1080Cys | Missense | 24/32 | - | 1 |
21-34018835-C-G | c.3232G>C | p.Gly1078Arg | Missense | 24/32 | - | 1 |
21-34018853-A-G | c.3214T>C | p.Ser1072Pro | Missense | 24/32 | - | 1 |
21-34018866-C-A | c.3201G>T | p.Gln1067His | Missense | 24/32 | - | 1 |
21-34018870-G-A | c.3197C>T | p.Pro1066Leu | Missense | 24/32 | - | 1 |
21-34018890-A-T | c.3177T>A | p.Ala1059Ala | Synonymous | 24/32 | - | 1 |
21-34018893-A-C | c.3174T>G | p.Ser1058Arg | Missense | 24/32 | - | 1 |
21-34018893-A-G | c.3174T>C | p.Ser1058Ser | Synonymous | 24/32 | - | 1 |
21-34018895-T-C | c.3172A>G | p.Ser1058Gly | Missense | 24/32 | - | 1 |
21-34018897-T-C | c.3170A>G | p.Tyr1057Cys | Missense | 24/32 | - | 1 |
21-34018897-T-G | c.3170A>C | p.Tyr1057Ser | Missense | 24/32 | - | 1 |
21-34018898-A-C | c.3169T>G | p.Tyr1057Asp | Missense | 24/32 | - | 1 |
21-34018898-A-G | c.3169T>C | p.Tyr1057His | Missense | 24/32 | - | 1 |
21-34018905-A-G | c.3162T>C | p.Val1054Val | Synonymous | 24/32 | - | 1 |
21-34018908-A-T | c.3159T>A | p.Asp1053Glu | Missense | 24/32 | - | 2 |
21-34018917-G-A | c.3155-5C>T | - | IntronicSNV | - | 23/31 | 1 |
21-34020348-C-T | c.3155-1436G>A | - | IntronicSNV | - | 23/31 | 2 |
21-34020653-A-G | c.3155-1741T>C | - | IntronicSNV | - | 23/31 | 2 |
21-34020786-C-A | c.3154+1708G>T | - | IntronicSNV | - | 23/31 | 2 |
21-34020913-C-T | c.3154+1581G>A | - | IntronicSNV | - | 23/31 | 1 |
21-34022489-C-T | c.3154+5G>A | - | IntronicSNV | - | 23/31 | 1 |
21-34022499-A-G | c.3149T>C | p.Met1050Thr | Missense | 23/32 | - | 1 |
21-34022518-C-T | c.3130G>A | p.Val1044Ile | Missense | 23/32 | - | 1 |
21-34022522-T-C | c.3126A>G | p.Ala1042Ala | Synonymous | 23/32 | - | 1 |
21-34022522-T-G | c.3126A>C | p.Ala1042Ala | Synonymous | 23/32 | - | 1 |
21-34022527-C-G | c.3121G>C | p.Asp1041His | Missense | 23/32 | - | 1 |
21-34022534-A-G | c.3114T>C | p.Leu1038Leu | Synonymous | 23/32 | - | 1 |
21-34022539-G-A | c.3109C>T | p.Leu1037Leu | Synonymous | 23/32 | - | 1 |
21-34022540-G-A | c.3108C>T | p.Thr1036Thr | Synonymous | 23/32 | - | 1 |
21-34022540-G-T | c.3108C>A | p.Thr1036Thr | Synonymous | 23/32 | - | 1 |
21-34022550-G-T | c.3098C>A | p.Thr1033Lys | Missense | 23/32 | - | 1 |
21-34022551-T-C | c.3097A>G | p.Thr1033Ala | Missense | 23/32 | - | 1 |
21-34022555-T-C | c.3093A>G | p.Ser1031Ser | Synonymous | 23/32 | - | 1 |
21-34022576-T-C | c.3072A>G | p.Lys1024Lys | Synonymous | 23/32 | - | 1 |
21-34022588-C-A | c.3060G>T | p.Met1020Ile | Missense | 23/32 | - | 2 |
21-34022588-C-T | c.3060G>A | p.Met1020Ile | Missense | 23/32 | - | 1 |
21-34022594-T-C | c.3054A>G | p.Glu1018Glu | Synonymous | 23/32 | - | 1 |
21-34022621-A-C | c.3027T>G | p.Ser1009Arg | Missense | 23/32 | - | 1 |
21-34022622-C-G | c.3026G>C | p.Ser1009Thr | Missense | 23/32 | - | 1 |
21-34022646-C-T | c.3002G>A | p.Arg1001Gln | Missense | 23/32 | - | 1 |
21-34022647-G-A | c.3001C>T | p.Arg1001Trp | Missense | 23/32 | - | 1 |
21-34022649-T-C | c.2999A>G | p.Asn1000Ser | Missense | 23/32 | - | 1 |
21-34022656-A-C | c.2992T>G | p.Leu998Val | Missense | 23/32 | - | 1 |
21-34022661-C-T | c.2992-5G>A | - | IntronicSNV | - | 22/31 | 1 |
21-34022662-G-A | c.2992-6C>T | - | IntronicSNV | - | 22/31 | 1 |
21-34024444-C-T | c.2991+1154G>A | - | IntronicSNV | - | 22/31 | 2 |
21-34025592-C-T | c.2991+6G>A | - | IntronicSNV | - | 22/31 | 1 |
21-34025593-C-T | c.2991+5G>A | - | IntronicSNV | - | 22/31 | 1 |
21-34025611-A-C | c.2978T>G | p.Leu993Arg | Missense | 22/32 | - | 1 |
21-34025612-G-A | c.2977C>T | p.Leu993Leu | Synonymous | 22/32 | - | 1 |
21-34025623-T-A | c.2966A>T | p.Asn989Ile | Missense | 22/32 | - | 1 |
21-34025635-C-T | c.2954G>A | p.Ser985Asn | Missense | 22/32 | - | 1 |
21-34025636-T-C | c.2953A>G | p.Ser985Gly | Missense | 22/32 | - | 1 |
21-34025657-A-G | c.2932T>C | p.Trp978Arg | Missense | 22/32 | - | 1 |
21-34025658-C-T | c.2931G>A | p.Met977Ile | Missense | 22/32 | - | 1 |
21-34025672-C-T | c.2917G>A | p.Val973Ile | Missense | 22/32 | - | 1 |
21-34025674-A-G | c.2915T>C | p.Phe972Ser | Missense | 22/32 | - | 1 |
21-34027774-T-C | c.2912+1223A>G | - | IntronicSNV | - | 21/31 | 2 |
21-34028990-A-G | c.2912+7T>C | - | IntronicSNV | - | 21/31 | 1 |
21-34028991-T-C | c.2912+6A>G | - | IntronicSNV | - | 21/31 | 1 |
21-34029006-A-C | c.2903T>G | p.Ile968Arg | Missense | 21/32 | - | 1 |
21-34029006-A-G | c.2903T>C | p.Ile968Thr | Missense | 21/32 | - | 1 |
21-34029022-T-G | c.2887A>C | p.Ser963Arg | Missense | 21/32 | - | 1 |
21-34029029-C-G | c.2880G>C | p.Gln960His | Missense | 21/32 | - | 1 |
21-34029032-C-G | c.2877G>C | p.Gln959His | Missense | 21/32 | - | 1 |
21-34029048-A-C | c.2861T>G | p.Ile954Ser | Missense | 21/32 | - | 1 |
21-34029048-A-G | c.2861T>C | p.Ile954Thr | Missense | 21/32 | - | 1 |
21-34029053-G-A | c.2856C>T | p.Ala952Ala | Synonymous | 21/32 | - | 1 |
21-34029058-C-T | c.2851G>A | p.Asp951Asn | Missense | 21/32 | - | 1 |
21-34029072-T-C | c.2837A>G | p.Asn946Ser | Missense | 21/32 | - | 1 |
21-34029077-T-C | c.2832A>G | p.Pro944Pro | Synonymous | 21/32 | - | 1 |
21-34029084-G-A | c.2825C>T | p.Ser942Phe | Missense | 21/32 | - | 1 |
21-34029084-G-C | c.2825C>G | p.Ser942Cys | Missense | 21/32 | - | 1 |
21-34029084-G-T | c.2825C>A | p.Ser942Tyr | Missense | 21/32 | - | 1 |
21-34029101-C-T | c.2808G>A | p.Leu936Leu | Synonymous | 21/32 | - | 1 |
21-34029103-A-G | c.2806T>C | p.Leu936Leu | Synonymous | 21/32 | - | 1 |
21-34029131-T-G | c.2778A>C | p.Ala926Ala | Synonymous | 21/32 | - | 1 |
21-34029132-G-A | c.2777C>T | p.Ala926Val | Missense | 21/32 | - | 1 |
21-34029139-C-G | c.2770G>C | p.Val924Leu | Missense | 21/32 | - | 1 |
21-34029139-C-T | c.2770G>A | p.Val924Ile | Missense | 21/32 | - | 1 |
21-34029153-T-C | c.2756A>G | p.Asn919Ser | Missense | 21/32 | - | 1 |
21-34029161-C-G | c.2748G>C | p.Glu916Asp | Missense | 21/32 | - | 1 |
21-34029161-C-T | c.2748G>A | p.Glu916Glu | Synonymous | 21/32 | - | 1 |
21-34029163-C-T | c.2746G>A | p.Glu916Lys | Missense | 21/32 | - | 1 |
21-34029170-T-C | c.2739A>G | p.Glu913Glu | Synonymous | 21/32 | - | 1 |
21-34029180-A-G | c.2729T>C | p.Phe910Ser | Missense | 21/32 | - | 1 |
21-34029183-A-G | c.2726T>C | p.Ile909Thr | Missense | 21/32 | - | 1 |
21-34029188-T-C | c.2721A>G | p.Ile907Met | Missense | 21/32 | - | 1 |
21-34029189-A-G | c.2720T>C | p.Ile907Thr | Missense | 21/32 | - | 1 |
21-34029193-C-A | c.2716G>T | p.Asp906Tyr | Missense | 21/32 | - | 1 |
21-34029195-A-G | c.2714T>C | p.Ile905Thr | Missense | 21/32 | - | 2 |
21-34029200-G-A | c.2709C>T | p.Ala903Ala | Synonymous | 21/32 | - | 1 |
21-34029205-C-G | c.2704G>C | p.Val902Leu | Missense | 21/32 | - | 1 |
21-34029205-C-T | c.2704G>A | p.Val902Ile | Missense | 21/32 | - | 1 |
21-34029206-G-A | c.2703C>T | p.Val901Val | Synonymous | 21/32 | - | 1 |
21-34029217-A-T | c.2697-5T>A | - | IntronicSNV | - | 20/31 | 1 |
21-34029307-T-G | c.2696+6A>C | - | IntronicSNV | - | 20/31 | 1 |
21-34029308-TA-TATA | c.2696+4_2696+5dup | - | IntronicInsertion | - | 20/31 | 1 |
21-34029345-A-G | c.2664T>C | p.Tyr888Tyr | Synonymous | 20/32 | - | 1 |
21-34029346-T-C | c.2663A>G | p.Tyr888Cys | Missense | 20/32 | - | 2 |
21-34029348-G-A | c.2661C>T | p.His887His | Synonymous | 20/32 | - | 1 |
21-34029349-T-G | c.2660A>C | p.His887Pro | Missense | 20/32 | - | 1 |
21-34029350-G-A | c.2659C>T | p.His887Tyr | Missense | 20/32 | - | 1 |
21-34029351-C-A | c.2658G>T | p.Leu886Leu | Synonymous | 20/32 | - | 1 |
21-34029367-G-A | c.2642C>T | p.Thr881Ile | Missense | 20/32 | - | 1 |
21-34029367-G-T | c.2642C>A | p.Thr881Asn | Missense | 20/32 | - | 1 |
21-34029368-T-C | c.2641A>G | p.Thr881Ala | Missense | 20/32 | - | 1 |
21-34029372-C-A | c.2637G>T | p.Thr879Thr | Synonymous | 20/32 | - | 1 |
21-34029372-C-T | c.2637G>A | p.Thr879Thr | Synonymous | 20/32 | - | 1 |
21-34029373-G-A | c.2636C>T | p.Thr879Met | Missense | 20/32 | - | 1 |
21-34029387-G-T | c.2622C>A | p.Ser874Arg | Missense | 20/32 | - | 1 |
21-34029394-T-C | c.2615A>G | p.Asp872Gly | Missense | 20/32 | - | 1 |
21-34029404-T-C | c.2605A>G | p.Ser869Gly | Missense | 20/32 | - | 1 |
21-34029405-A-G | c.2604T>C | p.Ala868Ala | Synonymous | 20/32 | - | 1 |
21-34029423-A-C | c.2586T>G | p.Asp862Glu | Missense | 20/32 | - | 1 |
21-34029423-A-T | c.2586T>A | p.Asp862Glu | Missense | 20/32 | - | 1 |
21-34029425-C-A | c.2584G>T | p.Asp862Tyr | Missense | 20/32 | - | 1 |
21-34029434-C-T | c.2579-4G>A | - | IntronicSNV | - | 19/31 | 1 |
21-34030022-C-T | c.2578+4G>A | - | IntronicSNV | - | 19/31 | 1 |
21-34030048-C-T | c.2556G>A | p.Arg852Arg | Synonymous | 19/32 | - | 1 |
21-34030052-C-T | c.2552G>A | p.Arg851Lys | Missense | 19/32 | - | 1 |
21-34030076-C-T | c.2528G>A | p.Trp843* | Nonsense | 19/32 | - | 2 |
21-34030084-G-A | c.2520C>T | p.Thr840Thr | Synonymous | 19/32 | - | 1 |
21-34030088-C-T | c.2516G>A | p.Arg839His | Missense | 19/32 | - | 1 |
21-34030089-G-A | c.2515C>T | p.Arg839Cys | Missense | 19/32 | - | 4 |
21-34030090-G-A | c.2514C>T | p.Cys838Cys | Synonymous | 19/32 | - | 1 |
21-34030091-C-G | c.2513G>C | p.Cys838Ser | Missense | 19/32 | - | 1 |
21-34030102-G-C | c.2502C>G | p.Thr834Thr | Synonymous | 19/32 | - | 1 |
21-34030110-A-G | c.2494T>C | p.Tyr832His | Missense | 19/32 | - | 1 |
21-34030114-G-A | c.2490C>T | p.Asp830Asp | Synonymous | 19/32 | - | 1 |
21-34030114-G-C | c.2490C>G | p.Asp830Glu | Missense | 19/32 | - | 1 |
21-34030135-A-G | c.2469T>C | p.Tyr823Tyr | Synonymous | 19/32 | - | 1 |
21-34030136-T-C | c.2468A>G | p.Tyr823Cys | Missense | 19/32 | - | 1 |
21-34030141-C-T | c.2463G>A | p.Pro821Pro | Synonymous | 19/32 | - | 1 |
21-34030150-G-A | c.2454C>T | p.Thr818Thr | Synonymous | 19/32 | - | 1 |
21-34030150-G-C | c.2454C>G | p.Thr818Thr | Synonymous | 19/32 | - | 1 |
21-34030155-C-T | c.2449G>A | p.Val817Ile | Missense | 19/32 | - | 1 |
21-34030156-C-T | c.2448G>A | p.Lys816Lys | Synonymous | 19/32 | - | 1 |
21-34030162-T-C | c.2442A>G | p.Glu814Glu | Synonymous | 19/32 | - | 1 |
21-34030180-A-G | c.2424T>C | p.Val808Val | Synonymous | 19/32 | - | 1 |
21-34031856-C-T | c.2422-1674G>A | - | IntronicSNV | - | 18/31 | 1 |
21-34037203-T-C | c.2421+20A>G | - | IntronicSNV | - | 18/31 | 1 |
21-34037225-G-C | c.2419C>G | p.Gln807Glu | Missense | 18/32 | - | 1 |
21-34037226-T-C | c.2418A>G | p.Gly806Gly | Synonymous | 18/32 | - | 1 |
21-34037232-A-G | c.2412T>C | p.Asn804Asn | Synonymous | 18/32 | - | 1 |
21-34037245-A-G | c.2399T>C | p.Ile800Thr | Missense | 18/32 | - | 1 |
21-34037262-T-C | c.2382A>G | p.Ile794Met | Missense | 18/32 | - | 1 |
21-34037263-A-G | c.2381T>C | p.Ile794Thr | Missense | 18/32 | - | 1 |
21-34037270-A-G | c.2374T>C | p.Ser792Pro | Missense | 18/32 | - | 1 |
21-34037271-A-G | c.2373T>C | p.Asp791Asp | Synonymous | 18/32 | - | 1 |
21-34037273-C-A | c.2371G>T | p.Asp791Tyr | Missense | 18/32 | - | 1 |
21-34037277-A-T | c.2367T>A | p.Asn789Lys | Missense | 18/32 | - | 1 |
21-34037286-T-C | c.2358A>G | p.Arg786Arg | Synonymous | 18/32 | - | 1 |
21-34037301-A-T | c.2343T>A | p.Val781Val | Synonymous | 18/32 | - | 1 |
21-34037310-G-A | c.2334C>T | p.Asn778Asn | Synonymous | 18/32 | - | 1 |
21-34037313-A-G | c.2331T>C | p.Pro777Pro | Synonymous | 18/32 | - | 1 |
21-34037314-G-T | c.2330C>A | p.Pro777His | Missense | 18/32 | - | 1 |
21-34037317-A-G | c.2327T>C | p.Leu776Pro | Missense | 18/32 | - | 1 |
21-34037321-C-T | c.2323G>A | p.Asp775Asn | Missense | 18/32 | - | 1 |
21-34037322-G-A | c.2322C>T | p.Ile774Ile | Synonymous | 18/32 | - | 1 |
21-34037333-T-C | c.2311A>G | p.Asn771Asp | Missense | 18/32 | - | 1 |
21-34037355-A-G | c.2289T>C | p.Tyr763Tyr | Synonymous | 18/32 | - | 1 |
21-34037356-T-C | c.2288A>G | p.Tyr763Cys | Missense | 18/32 | - | 1 |
21-34037358-G-A | c.2286C>T | p.Asp762Asp | Synonymous | 18/32 | - | 1 |
21-34037361-A-G | c.2283T>C | p.His761His | Synonymous | 18/32 | - | 1 |
21-34037362-T-C | c.2282A>G | p.His761Arg | Missense | 18/32 | - | 1 |
21-34037362-T-G | c.2282A>C | p.His761Pro | Missense | 18/32 | - | 1 |
21-34037365-G-A | c.2279C>T | p.Ser760Phe | Missense | 18/32 | - | 1 |
21-34037370-T-A | c.2274A>T | p.Leu758Leu | Synonymous | 18/32 | - | 1 |
21-34037370-T-C | c.2274A>G | p.Leu758Leu | Synonymous | 18/32 | - | 1 |
21-34037389-C-T | c.2263-8G>A | - | IntronicSNV | - | 17/31 | 1 |
21-34038245-G-A | c.2262+8C>T | - | IntronicSNV | - | 17/31 | 1 |
21-34038254-A-T | c.2261T>A | p.Met754Lys | Missense | 17/32 | - | 1 |
21-34038255-T-A | c.2260A>T | p.Met754Leu | Missense | 17/32 | - | 1 |
21-34038255-T-C | c.2260A>G | p.Met754Val | Missense | 17/32 | - | 1 |
21-34038256-A-C | c.2259T>G | p.Pro753Pro | Synonymous | 17/32 | - | 1 |
21-34038272-C-T | c.2243G>A | p.Arg748Gln | Missense | 17/32 | - | 1 |
21-34038278-A-G | c.2237T>C | p.Ile746Thr | Missense | 17/32 | - | 1 |
21-34038285-T-C | c.2230A>G | p.Ile744Val | Missense | 17/32 | - | 1 |
21-34038308-A-G | c.2207T>C | p.Val736Ala | Missense | 17/32 | - | 1 |
21-34038317-T-C | c.2198A>G | p.Gln733Arg | Missense | 17/32 | - | 1 |
21-34038317-T-G | c.2198A>C | p.Gln733Pro | Missense | 17/32 | - | 1 |
21-34038338-C-A | c.2177G>T | p.Cys726Phe | Missense | 17/32 | - | 1 |
21-34038342-C-T | c.2173G>A | p.Val725Ile | Missense | 17/32 | - | 1 |
21-34038343-G-A | c.2172C>T | p.Phe724Phe | Synonymous | 17/32 | - | 1 |
21-34038343-G-T | c.2172C>A | p.Phe724Leu | Missense | 17/32 | - | 1 |
21-34038348-A-C | c.2167T>G | p.Cys723Gly | Missense | 17/32 | - | 1 |
21-34038353-C-T | c.2162G>A | p.Ser721Asn | Missense | 17/32 | - | 1 |
21-34038355-G-C | c.2160C>G | p.Thr720Thr | Synonymous | 17/32 | - | 1 |
21-34038360-T-C | c.2155A>G | p.Thr719Ala | Missense | 17/32 | - | 1 |
21-34038364-G-A | c.2151C>T | p.Phe717Phe | Synonymous | 17/32 | - | 1 |
21-34038402-T-C | c.2113A>G | p.Thr705Ala | Missense | 17/32 | - | 1 |
21-34038427-A-G | c.2088T>C | p.Thr696Thr | Synonymous | 17/32 | - | 1 |
21-34038430-A-G | c.2085T>C | p.Asp695Asp | Synonymous | 17/32 | - | 1 |
21-34038439-A-C | c.2076T>G | p.Val692Val | Synonymous | 17/32 | - | 1 |
21-34038445-C-T | c.2070G>A | p.Arg690Arg | Synonymous | 17/32 | - | 1 |
21-34038740-G-T | c.2069+3C>A | - | IntronicSNV | - | 16/31 | 1 |
21-34038757-A-G | c.2055T>C | p.His685His | Synonymous | 16/32 | - | 1 |
21-34038775-A-G | c.2037T>C | p.Val679Val | Synonymous | 16/32 | - | 1 |
21-34038781-C-T | c.2031G>A | p.Leu677Leu | Synonymous | 16/32 | - | 1 |
21-34038789-C-T | c.2023G>A | p.Val675Ile | Missense | 16/32 | - | 1 |
21-34038790-G-A | c.2022C>T | p.Gly674Gly | Synonymous | 16/32 | - | 1 |
21-34038808-A-G | c.2004T>C | p.Ala668Ala | Synonymous | 16/32 | - | 1 |
21-34038809-G-A | c.2003C>T | p.Ala668Val | Missense | 16/32 | - | 1 |
21-34038825-T-C | c.1987A>G | p.Lys663Glu | Missense | 16/32 | - | 1 |
21-34038826-G-C | c.1986C>G | p.Asn662Lys | Missense | 16/32 | - | 1 |
21-34038828-T-C | c.1984A>G | p.Asn662Asp | Missense | 16/32 | - | 1 |
21-34038854-T-G | c.1958A>C | p.Glu653Ala | Missense | 16/32 | - | 1 |
21-34038857-A-G | c.1955T>C | p.Val652Ala | Missense | 16/32 | - | 1 |
21-34038865-G-C | c.1947C>G | p.Leu649Leu | Synonymous | 16/32 | - | 1 |
21-34038870-T-G | c.1942A>C | p.Lys648Gln | Missense | 16/32 | - | 1 |
21-34038871-C-T | c.1941G>A | p.Gln647Gln | Synonymous | 16/32 | - | 1 |
21-34038874-GA-G | c.1938del | p.Gln647Argfs*6 | Frameshift | 16/32 | - | 2 |
21-34038887-C-A | c.1929-4G>T | - | IntronicSNV | - | 15/31 | 1 |
21-34038887-C-T | c.1929-4G>A | - | IntronicSNV | - | 15/31 | 1 |
21-34041526-C-T | c.1928+1072G>A | - | IntronicSNV | - | 15/31 | 2 |
21-34041650-G-A | c.1928+948C>T | - | IntronicSNV | - | 15/31 | 1 |
21-34042592-G-A | c.1928+6C>T | - | IntronicSNV | - | 15/31 | 1 |
21-34042634-A-G | c.1892T>C | p.Met631Thr | Missense | 15/32 | - | 1 |
21-34042647-C-T | c.1879G>A | p.Gly627Ser | Missense | 15/32 | - | 1 |
21-34042665-T-C | c.1861A>G | p.Thr621Ala | Missense | 15/32 | - | 1 |
21-34042669-C-A | c.1857G>T | p.Lys619Asn | Missense | 15/32 | - | 1 |
21-34042681-A-G | c.1845T>C | p.Asp615Asp | Synonymous | 15/32 | - | 1 |
21-34045650-C-A | c.1843G>T | p.Asp615Tyr | Missense | 14/32 | - | 1 |
21-34045672-T-G | c.1821A>C | p.Leu607Phe | Missense | 14/32 | - | 1 |
21-34045675-C-G | c.1818G>C | p.Lys606Asn | Missense | 14/32 | - | 1 |
21-34045679-G-A | c.1814C>T | p.Pro605Leu | Missense | 14/32 | - | 1 |
21-34045697-T-C | c.1796A>G | p.Asp599Gly | Missense | 14/32 | - | 1 |
21-34045698-C-G | c.1795G>C | p.Asp599His | Missense | 14/32 | - | 1 |
21-34045708-C-T | c.1785G>A | p.Gln595Gln | Synonymous | 14/32 | - | 1 |
21-34045710-G-C | c.1783C>G | p.Gln595Glu | Missense | 14/32 | - | 1 |
21-34045726-G-T | c.1767C>A | p.Ser589Arg | Missense | 14/32 | - | 1 |
21-34045735-T-C | c.1758A>G | p.Gln586Gln | Synonymous | 14/32 | - | 1 |
21-34045747-A-G | c.1746T>C | p.Asn582Asn | Synonymous | 14/32 | - | 1 |
21-34045765-G-A | c.1728C>T | p.Val576Val | Synonymous | 14/32 | - | 1 |
21-34045765-G-C | c.1728C>G | p.Val576Val | Synonymous | 14/32 | - | 1 |
21-34045773-C-T | c.1720G>A | p.Val574Ile | Missense | 14/32 | - | 1 |
21-34045775-C-T | c.1718G>A | p.Arg573Gln | Missense | 14/32 | - | 1 |
21-34045780-T-C | c.1713A>G | p.Lys571Lys | Synonymous | 14/32 | - | 1 |
21-34045787-G-A | c.1706C>T | p.Pro569Leu | Missense | 14/32 | - | 1 |
21-34045795-A-G | c.1698T>C | p.Tyr566Tyr | Synonymous | 14/32 | - | 1 |
21-34045799-T-C | c.1694A>G | p.Lys565Arg | Missense | 14/32 | - | 1 |
21-34045813-A-G | c.1680T>C | p.Cys560Cys | Synonymous | 14/32 | - | 1 |
21-34045817-A-G | c.1676T>C | p.Met559Thr | Missense | 14/32 | - | 1 |
21-34045820-C-G | c.1673G>C | p.Ser558Thr | Missense | 14/32 | - | 1 |
21-34045820-C-T | c.1673G>A | p.Ser558Asn | Missense | 14/32 | - | 1 |
21-34045821-T-C | c.1672A>G | p.Ser558Gly | Missense | 14/32 | - | 1 |
21-34045822-C-G | c.1671G>C | p.Lys557Asn | Missense | 14/32 | - | 1 |
21-34045823-T-C | c.1670A>G | p.Lys557Arg | Missense | 14/32 | - | 1 |
21-34045830-C-A | c.1663G>T | p.Val555Leu | Missense | 14/32 | - | 1 |
21-34045830-C-T | c.1663G>A | p.Val555Ile | Missense | 14/32 | - | 1 |
21-34045841-G-A | c.1652C>T | p.Ala551Val | Missense | 14/32 | - | 2 |
21-34046918-T-A | c.1652-1077A>T | - | IntronicSNV | - | 13/31 | 1 |
21-34048637-T-C | c.1651+5A>G | - | IntronicSNV | - | 13/31 | 1 |
21-34048637-T-G | c.1651+5A>C | - | IntronicSNV | - | 13/31 | 1 |
21-34048638-G-C | c.1651+4C>G | - | IntronicSNV | - | 13/31 | 1 |
21-34048638-G-T | c.1651+4C>A | - | IntronicSNV | - | 13/31 | 1 |
21-34048669-T-C | c.1628-4A>G | - | IntronicSNV | - | 12/31 | 2 |
21-34048673-T-A | c.1628-8A>T | - | IntronicSNV | - | 12/31 | 1 |
21-34048673-T-C | c.1628-8A>G | - | IntronicSNV | - | 12/31 | 1 |
21-34050957-C-T | c.1625G>A | p.Arg542His | Missense | 12/32 | - | 1 |
21-34050958-G-A | c.1624C>T | p.Arg542Cys | Missense | 12/32 | - | 1 |
21-34050962-A-G | c.1620T>C | p.Ser540Ser | Synonymous | 12/32 | - | 1 |
21-34050976-A-C | c.1606T>G | p.Leu536Val | Missense | 12/32 | - | 1 |
21-34050982-C-T | c.1600G>A | p.Ala534Thr | Missense | 12/32 | - | 1 |
21-34050984-C-T | c.1598G>A | p.Arg533Gln | Missense | 12/32 | - | 1 |
21-34050988-C-T | c.1594G>A | p.Ala532Thr | Missense | 12/32 | - | 1 |
21-34051007-A-G | c.1575T>C | p.Asn525Asn | Synonymous | 12/32 | - | 1 |
21-34051014-G-C | c.1568C>G | p.Thr523Ser | Missense | 12/32 | - | 1 |
21-34051024-G-A | c.1558C>T | p.Leu520Leu | Synonymous | 12/32 | - | 1 |
21-34051038-A-G | c.1544T>C | p.Ile515Thr | Missense | 12/32 | - | 1 |
21-34051056-C-G | c.1526G>C | p.Ser509Thr | Missense | 12/32 | - | 1 |
21-34051063-A-C | c.1519T>G | p.Phe507Val | Missense | 12/32 | - | 1 |
21-34051073-C-T | c.1509G>A | p.Gln503Gln | Synonymous | 12/32 | - | 1 |
21-34051095-C-T | c.1487G>A | p.Arg496His | Missense | 12/32 | - | 1 |
21-34051101-C-T | c.1481G>A | p.Gly494Asp | Missense | 12/32 | - | 1 |
21-34053799-G-A | c.1470+7C>T | - | IntronicSNV | - | 11/31 | 1 |
21-34053801-T-C | c.1470+5A>G | - | IntronicSNV | - | 11/31 | 1 |
21-34053813-T-C | c.1463A>G | p.Lys488Arg | Missense | 11/32 | - | 1 |
21-34053817-C-T | c.1459G>A | p.Gly487Arg | Missense | 11/32 | - | 1 |
21-34053840-T-C | c.1436A>G | p.Tyr479Cys | Missense | 11/32 | - | 1 |
21-34053853-T-A | c.1423A>T | p.Ile475Phe | Missense | 11/32 | - | 1 |
21-34053853-T-C | c.1423A>G | p.Ile475Val | Missense | 11/32 | - | 1 |
21-34053862-C-A | c.1414G>T | p.Gly472Cys | Missense | 11/32 | - | 1 |
21-34053864-T-A | c.1412A>T | p.Asn471Ile | Missense | 11/32 | - | 1 |
21-34053864-T-C | c.1412A>G | p.Asn471Ser | Missense | 11/32 | - | 1 |
21-34053865-T-C | c.1411A>G | p.Asn471Asp | Missense | 11/32 | - | 1 |
21-34053868-C-T | c.1408G>A | p.Val470Met | Missense | 11/32 | - | 1 |
21-34053877-T-C | c.1399A>G | p.Met467Val | Missense | 11/32 | - | 1 |
21-34053881-C-T | c.1395G>A | p.Arg465Arg | Synonymous | 11/32 | - | 1 |
21-34053900-C-G | c.1376G>C | p.Arg459Pro | Missense | 11/32 | - | 7 |
21-34053902-A-C | c.1374T>G | p.Thr458Thr | Synonymous | 11/32 | - | 1 |
21-34053905-C-G | c.1371G>C | p.Val457Val | Synonymous | 11/32 | - | 1 |
21-34053910-A-G | c.1366T>C | p.Leu456Leu | Synonymous | 11/32 | - | 1 |
21-34053914-A-G | c.1362T>C | p.Pro454Pro | Synonymous | 11/32 | - | 1 |
21-34053917-C-T | c.1359G>A | p.Lys453Lys | Synonymous | 11/32 | - | 1 |
21-34053918-T-C | c.1358A>G | p.Lys453Arg | Missense | 11/32 | - | 1 |
21-34053921-T-C | c.1355A>G | p.Glu452Gly | Missense | 11/32 | - | 1 |
21-34053931-C-G | c.1345G>C | p.Gly449Arg | Missense | 11/32 | - | 1 |
21-34053940-C-T | c.1336G>A | p.Glu446Lys | Missense | 11/32 | - | 1 |
21-34053955-G-C | c.1321C>G | p.Leu441Val | Missense | 11/32 | - | 1 |
21-34053961-T-A | c.1318-3A>T | - | IntronicSNV | - | 10/31 | 2 |
21-34056342-T-C | c.1317+6A>G | - | IntronicSNV | - | 10/31 | 1 |
21-34056342-T-G | c.1317+6A>C | - | IntronicSNV | - | 10/31 | 1 |
21-34056354-G-A | c.1311C>T | p.Gly437Gly | Synonymous | 10/32 | - | 1 |
21-34056355-C-T | c.1310G>A | p.Gly437Asp | Missense | 10/32 | - | 1 |
21-34056365-C-T | c.1300G>A | p.Ala434Thr | Missense | 10/32 | - | 1 |
21-34056366-C-T | c.1299G>A | p.Gln433Gln | Synonymous | 10/32 | - | 1 |
21-34056372-A-G | c.1293T>C | p.Ser431Ser | Synonymous | 10/32 | - | 1 |
21-34056381-T-C | c.1284A>G | p.Arg428Arg | Synonymous | 10/32 | - | 1 |
21-34056401-A-T | c.1264T>A | p.Cys422Ser | Missense | 10/32 | - | 1 |
21-34056424-T-C | c.1241A>G | p.Gln414Arg | Missense | 10/32 | - | 1 |
21-34056436-C-G | c.1236-7G>C | - | IntronicSNV | - | 9/31 | 1 |
21-34056436-C-T | c.1236-7G>A | - | IntronicSNV | - | 9/31 | 1 |
21-34056437-C-A | c.1236-8G>T | - | IntronicSNV | - | 9/31 | 1 |
21-34058050-A-G | c.1235+8T>C | - | IntronicSNV | - | 9/31 | 1 |
21-34058051-G-A | c.1235+7C>T | - | IntronicSNV | - | 9/31 | 1 |
21-34058062-G-C | c.1231C>G | p.Gln411Glu | Missense | 9/32 | - | 1 |
21-34058069-A-G | c.1224T>C | p.Ser408Ser | Synonymous | 9/32 | - | 1 |
21-34058070-C-T | c.1223G>A | p.Ser408Asn | Missense | 9/32 | - | 1 |
21-34058075-A-C | c.1218T>G | p.Asn406Lys | Missense | 9/32 | - | 1 |
21-34058075-A-G | c.1218T>C | p.Asn406Asn | Synonymous | 9/32 | - | 1 |
21-34058076-T-C | c.1217A>G | p.Asn406Ser | Missense | 9/32 | - | 1 |
21-34058084-A-T | c.1209T>A | p.Phe403Leu | Missense | 9/32 | - | 1 |
21-34058095-A-T | c.1198T>A | p.Tyr400Asn | Missense | 9/32 | - | 1 |
21-34058099-T-G | c.1194A>C | p.Leu398Leu | Synonymous | 9/32 | - | 1 |
21-34058113-C-T | c.1180G>A | p.Val394Ile | Missense | 9/32 | - | 1 |
21-34058130-C-A | c.1163G>T | p.Ser388Ile | Missense | 9/32 | - | 1 |
21-34058130-C-G | c.1163G>C | p.Ser388Thr | Missense | 9/32 | - | 1 |
21-34058131-T-C | c.1162A>G | p.Ser388Gly | Missense | 9/32 | - | 1 |
21-34058146-C-T | c.1147G>A | p.Ala383Thr | Missense | 9/32 | - | 2 |
21-34058162-C-T | c.1131G>A | p.Met377Ile | Missense | 9/32 | - | 1 |
21-34058174-G-A | c.1119C>T | p.Asp373Asp | Synonymous | 9/32 | - | 1 |
21-34058182-T-G | c.1111A>C | p.Asn371His | Missense | 9/32 | - | 1 |
21-34058195-A-G | c.1098T>C | p.Asp366Asp | Synonymous | 9/32 | - | 1 |
21-34059281-T-C | c.1065+7A>G | - | IntronicSNV | - | 8/31 | 1 |
21-34059306-C-T | c.1047G>A | p.Met349Ile | Missense | 8/32 | - | 1 |
21-34059320-C-G | c.1033G>C | p.Glu345Gln | Missense | 8/32 | - | 1 |
21-34059326-A-G | c.1027T>C | p.Ser343Pro | Missense | 8/32 | - | 2 |
21-34059327-T-C | c.1026A>G | p.Gly342Gly | Synonymous | 8/32 | - | 1 |
21-34059331-A-T | c.1022T>A | p.Leu341His | Missense | 8/32 | - | 1 |
21-34059340-A-G | c.1013T>C | p.Val338Ala | Missense | 8/32 | - | 1 |
21-34059347-T-C | c.1006A>G | p.Ile336Val | Missense | 8/32 | - | 1 |
21-34059352-T-C | c.1001A>G | p.Lys334Arg | Missense | 8/32 | - | 12 |
21-34059353-T-G | c.1000A>C | p.Lys334Gln | Missense | 8/32 | - | 1 |
21-34059354-A-G | c.999T>C | p.Gly333Gly | Synonymous | 8/32 | - | 1 |
21-34059359-A-G | c.994T>C | p.Tyr332His | Missense | 8/32 | - | 1 |
21-34059372-T-C | c.981A>G | p.Thr327Thr | Synonymous | 8/32 | - | 1 |
21-34059374-T-G | c.979A>C | p.Thr327Pro | Missense | 8/32 | - | 1 |
21-34059380-A-G | c.973T>C | p.Phe325Leu | Missense | 8/32 | - | 1 |
21-34060610-T-C | c.968+6A>G | - | IntronicSNV | - | 7/31 | 1 |
21-34060611-C-T | c.968+5G>A | - | IntronicSNV | - | 7/31 | 1 |
21-34060616-C-T | c.968G>A | p.Arg323Lys | Missense | 7/32 | - | 1 |
21-34060624-A-G | c.960T>C | p.Ala320Ala | Synonymous | 7/32 | - | 1 |
21-34060630-T-G | c.954A>C | p.Ala318Ala | Synonymous | 7/32 | - | 1 |
21-34060633-A-G | c.951T>C | p.Asn317Asn | Synonymous | 7/32 | - | 1 |
21-34060636-G-A | c.948C>T | p.Ala316Ala | Synonymous | 7/32 | - | 1 |
21-34060656-T-C | c.928A>G | p.Met310Val | Missense | 7/32 | - | 1 |
21-34060658-C-A | c.926G>T | p.Arg309Leu | Missense | 7/32 | - | 1 |
21-34060658-C-T | c.926G>A | p.Arg309His | Missense | 7/32 | - | 1 |
21-34060659-G-A | c.925C>T | p.Arg309Cys | Missense | 7/32 | - | 1 |
21-34060664-C-T | c.920G>A | p.Arg307His | Missense | 7/32 | - | 1 |
21-34066531-C-G | c.906+7G>C | - | IntronicSNV | - | 6/31 | 1 |
21-34066544-C-T | c.900G>A | p.Gly300Gly | Synonymous | 6/32 | - | 1 |
21-34066562-C-G | c.882G>C | p.Leu294Phe | Missense | 6/32 | - | 1 |
21-34066568-A-C | c.876T>G | p.Val292Val | Synonymous | 6/32 | - | 1 |
21-34066578-C-T | c.866G>A | p.Arg289Gln | Missense | 6/32 | - | 1 |
21-34066580-G-A | c.864C>T | p.Ile288Ile | Synonymous | 6/32 | - | 1 |
21-34066592-G-T | c.852C>A | p.Ser284Ser | Synonymous | 6/32 | - | 1 |
21-34066600-C-A | c.844G>T | p.Val282Phe | Missense | 6/32 | - | 1 |
21-34066600-C-T | c.844G>A | p.Val282Ile | Missense | 6/32 | - | 1 |
21-34066616-C-T | c.828G>A | p.Val276Val | Synonymous | 6/32 | - | 1 |
21-34066629-A-G | c.823-8T>C | - | IntronicSNV | - | 5/31 | 1 |
21-34067359-A-G | c.822+8T>C | - | IntronicSNV | - | 5/31 | 1 |
21-34067360-T-C | c.822+7A>G | - | IntronicSNV | - | 5/31 | 1 |
21-34067370-T-C | c.819A>G | p.Glu273Glu | Synonymous | 5/32 | - | 1 |
21-34067383-A-G | c.806T>C | p.Phe269Ser | Missense | 5/32 | - | 1 |
21-34067388-G-A | c.801C>T | p.Ala267Ala | Synonymous | 5/32 | - | 1 |
21-34067413-C-A | c.776G>T | p.Gly259Val | Missense | 5/32 | - | 1 |
21-34067413-C-T | c.776G>A | p.Gly259Glu | Missense | 5/32 | - | 1 |
21-34067415-CCG-TGT | c.772_774delinsACA | p.Arg258Thr | Missense | 5/32 | - | 1 |
21-34067415-C-T | c.774G>A | p.Arg258Arg | Synonymous | 5/32 | - | 1 |
21-34067416-CG-TA | c.772_773delinsTA | p.Arg258* | Nonsense | 5/32 | - | 1 |
21-34067416-C-T | c.773G>A | p.Arg258Gln | Missense | 5/32 | - | 26 |
21-34067417-G-C | c.772C>G | p.Arg258Gly | Missense | 5/32 | - | 1 |
21-34067424-A-C | c.765T>G | p.Phe255Leu | Missense | 5/32 | - | 1 |
21-34067446-C-T | c.743G>A | p.Cys248Tyr | Missense | 5/32 | - | 1 |
21-34067458-G-A | c.731C>T | p.Ser244Leu | Missense | 5/32 | - | 1 |
21-34067462-T-C | c.727A>G | p.Ile243Val | Missense | 5/32 | - | 1 |
21-34067463-G-A | c.726C>T | p.Leu242Leu | Synonymous | 5/32 | - | 1 |
21-34067471-C-A | c.718G>T | p.Ala240Ser | Missense | 5/32 | - | 1 |
21-34067471-C-G | c.718G>C | p.Ala240Pro | Missense | 5/32 | - | 1 |
21-34067471-C-T | c.718G>A | p.Ala240Thr | Missense | 5/32 | - | 1 |
21-34067475-C-T | c.714G>A | p.Ala238Ala | Synonymous | 5/32 | - | 1 |
21-34067480-G-A | c.709C>T | p.Gln237* | Nonsense | 5/32 | - | 1 |
21-34067480-G-T | c.709C>A | p.Gln237Lys | Missense | 5/32 | - | 1 |
21-34067489-C-T | c.700G>A | p.Ala234Thr | Missense | 5/32 | - | 1 |
21-34067499-T-C | c.690A>G | p.Thr230Thr | Synonymous | 5/32 | - | 1 |
21-34067516-C-T | c.673G>A | p.Gly225Arg | Missense | 5/32 | - | 1 |
21-34067517-T-A | c.672A>T | p.Gly224Gly | Synonymous | 5/32 | - | 1 |
21-34067523-C-T | c.666G>A | p.Met222Ile | Missense | 5/32 | - | 1 |
21-34067530-C-T | c.659G>A | p.Arg220His | Missense | 5/32 | - | 1 |
21-34067531-G-A | c.658C>T | p.Arg220Cys | Missense | 5/32 | - | 1 |
21-34067539-C-A | c.650G>T | p.Trp217Leu | Missense | 5/32 | - | 1 |
21-34067543-C-T | c.646G>A | p.Asp216Asn | Missense | 5/32 | - | 1 |
21-34067555-C-T | c.634G>A | p.Val212Met | Missense | 5/32 | - | 1 |
21-34067561-A-G | c.628T>C | p.Tyr210His | Missense | 5/32 | - | 1 |
21-34067573-G-A | c.616C>T | p.His206Tyr | Missense | 5/32 | - | 1 |
21-34067583-A-C | c.606T>G | p.Ser202Ser | Synonymous | 5/32 | - | 1 |
21-34067589-A-C | c.600T>G | p.Asn200Lys | Missense | 5/32 | - | 1 |
21-34067599-G-A | c.597-7C>T | - | IntronicSNV | - | 4/31 | 1 |
21-34068582-C-T | c.597-990G>A | - | IntronicSNV | - | 4/31 | 1 |
21-34072140-G-A | c.596+8C>T | - | IntronicSNV | - | 4/31 | 1 |
21-34072157-C-G | c.587G>C | p.Arg196Thr | Missense | 4/32 | - | 1 |
21-34072157-C-T | c.587G>A | p.Arg196Lys | Missense | 4/32 | - | 1 |
21-34072159-A-G | c.585T>C | p.Asn195Asn | Synonymous | 4/32 | - | 1 |
21-34072165-A-T | c.579T>A | p.Thr193Thr | Synonymous | 4/32 | - | 1 |
21-34072172-T-C | c.572A>G | p.Gln191Arg | Missense | 4/32 | - | 1 |
21-34072173-G-C | c.571C>G | p.Gln191Glu | Missense | 4/32 | - | 1 |
21-34072174-T-C | c.570A>G | p.Glu190Glu | Synonymous | 4/32 | - | 1 |
21-34072177-T-A | c.567A>T | p.Gln189His | Missense | 4/32 | - | 1 |
21-34072177-T-C | c.567A>G | p.Gln189Gln | Synonymous | 4/32 | - | 1 |
21-34072187-C-T | c.557G>A | p.Arg186His | Missense | 4/32 | - | 1 |
21-34072192-C-A | c.552G>T | p.Ala184Ala | Synonymous | 4/32 | - | 1 |
21-34072192-C-T | c.552G>A | p.Ala184Ala | Synonymous | 4/32 | - | 1 |
21-34072193-G-A | c.551C>T | p.Ala184Val | Missense | 4/32 | - | 1 |
21-34072206-A-G | c.538T>C | p.Leu180Leu | Synonymous | 4/32 | - | 1 |
21-34072218-T-A | c.526A>T | p.Ile176Phe | Missense | 4/32 | - | 1 |
21-34072218-T-C | c.526A>G | p.Ile176Val | Missense | 4/32 | - | 1 |
21-34072220-C-A | c.524G>T | p.Gly175Val | Missense | 4/32 | - | 1 |
21-34072220-C-T | c.524G>A | p.Gly175Asp | Missense | 4/32 | - | 1 |
21-34072222-A-G | c.522T>C | p.Ser174Ser | Synonymous | 4/32 | - | 1 |
21-34072222-A-T | c.522T>A | p.Ser174Ser | Synonymous | 4/32 | - | 1 |
21-34072232-C-T | c.512G>A | p.Trp171* | Nonsense | 4/32 | - | 1 |
21-34072234-T-C | c.510A>G | p.Ala170Ala | Synonymous | 4/32 | - | 1 |
21-34072243-A-G | c.501T>C | p.Phe167Phe | Synonymous | 4/32 | - | 1 |
21-34072268-C-T | c.476G>A | p.Arg159Gln | Missense | 4/32 | - | 1 |
21-34072276-T-C | c.468A>G | p.Ser156Ser | Synonymous | 4/32 | - | 1 |
21-34072278-A-G | c.466T>C | p.Ser156Pro | Missense | 4/32 | - | 1 |
21-34072284-G-A | c.460C>T | p.Arg154Cys | Missense | 4/32 | - | 1 |
21-34072291-A-G | c.453T>C | p.Asp151Asp | Synonymous | 4/32 | - | 1 |
21-34072292-T-A | c.452A>T | p.Asp151Val | Missense | 4/32 | - | 1 |
21-34072293-C-A | c.451G>T | p.Asp151Tyr | Missense | 4/32 | - | 1 |
21-34072293-C-T | c.451G>A | p.Asp151Asn | Missense | 4/32 | - | 1 |
21-34072295-G-A | c.449C>T | p.Ser150Leu | Missense | 4/32 | - | 1 |
21-34072296-A-C | c.448T>G | p.Ser150Ala | Missense | 4/32 | - | 1 |
21-34072301-T-C | c.443A>G | p.Asp148Gly | Missense | 4/32 | - | 1 |
21-34072303-G-A | c.441C>T | p.Ile147Ile | Synonymous | 4/32 | - | 1 |
21-34072307-C-T | c.437G>A | p.Arg146Gln | Missense | 4/32 | - | 2 |
21-34072313-G-A | c.431C>T | p.Ser144Leu | Missense | 4/32 | - | 1 |
21-34072316-A-G | c.428T>C | p.Ile143Thr | Missense | 4/32 | - | 1 |
21-34072321-C-T | c.423G>A | p.Glu141Glu | Synonymous | 4/32 | - | 1 |
21-34072326-T-A | c.418A>T | p.Thr140Ser | Missense | 4/32 | - | 1 |
21-34072327-G-A | c.417C>T | p.Ser139Ser | Synonymous | 4/32 | - | 1 |
21-34072327-G-C | c.417C>G | p.Ser139Ser | Synonymous | 4/32 | - | 1 |
21-34072337-C-T | c.407G>A | p.Arg136Gln | Missense | 4/32 | - | 1 |
21-34072338-G-A | c.406C>T | p.Arg136* | Nonsense | 4/32 | - | 4 |
21-34072356-G-C | c.388C>G | p.Gln130Glu | Missense | 4/32 | - | 1 |
21-34072367-A-G | c.377T>C | p.Val126Ala | Missense | 4/32 | - | 1 |
21-34072368-C-A | c.376G>T | p.Val126Phe | Missense | 4/32 | - | 1 |
21-34072374-T-A | c.370A>T | p.Met124Leu | Missense | 4/32 | - | 1 |
21-34072375-A-C | c.369T>G | p.Cys123Trp | Missense | 4/32 | - | 1 |
21-34072384-G-A | c.360C>T | p.Val120Val | Synonymous | 4/32 | - | 1 |
21-34072389-G-A | c.355C>T | p.Leu119Leu | Synonymous | 4/32 | - | 1 |
21-34072407-T-C | c.337A>G | p.Met113Val | Missense | 4/32 | - | 1 |
21-34072408-A-G | c.336T>C | p.Thr112Thr | Synonymous | 4/32 | - | 1 |
21-34072408-A-T | c.336T>A | p.Thr112Thr | Synonymous | 4/32 | - | 1 |
21-34074283-G-A | c.316C>T | p.Arg106Trp | Missense | 3/32 | - | 1 |
21-34074289-C-T | c.310G>A | p.Val104Ile | Missense | 3/32 | - | 1 |
21-34074296-G-C | c.303C>G | p.Leu101Leu | Synonymous | 3/32 | - | 1 |
21-34074305-T-C | c.294A>G | p.Ala98Ala | Synonymous | 3/32 | - | 1 |
21-34074305-T-G | c.294A>C | p.Ala98Ala | Synonymous | 3/32 | - | 1 |
21-34074307-C-T | c.292G>A | p.Ala98Thr | Missense | 3/32 | - | 1 |
21-34074317-T-C | c.282A>G | p.Lys94Lys | Synonymous | 3/32 | - | 1 |
21-34074320-G-C | c.279C>G | p.Ser93Ser | Synonymous | 3/32 | - | 1 |
21-34074322-A-C | c.277T>G | p.Ser93Ala | Missense | 3/32 | - | 1 |
21-34074326-T-C | c.273A>G | p.Thr91Thr | Synonymous | 3/32 | - | 1 |
21-34074352-C-T | c.247G>A | p.Ala83Thr | Missense | 3/32 | - | 1 |
21-34080468-G-A | c.242-6111C>T | - | IntronicSNV | - | 2/31 | 1 |
21-34080468-G-C | c.242-6111C>G | - | IntronicSNV | - | 2/31 | 1 |
21-34084830-T-A | c.242-10473A>T | - | IntronicSNV | - | 2/31 | 1 |
21-34084830-T-C | c.242-10473A>G | - | IntronicSNV | - | 2/31 | 1 |
21-34086304-A-G | c.242-11947T>C | - | IntronicSNV | - | 2/31 | 1 |
21-34088470-T-C | c.241+10613A>G | - | IntronicSNV | - | 2/31 | 2 |
21-34097985-G-A | c.241+1098C>T | - | IntronicSNV | - | 2/31 | 2 |
21-34099076-G-A | c.241+7C>T | - | IntronicSNV | - | 2/31 | 1 |
21-34099086-G-A | c.238C>T | p.Leu80Phe | Missense | 2/32 | - | 1 |
21-34099087-C-A | c.237G>T | p.Val79Val | Synonymous | 2/32 | - | 1 |
21-34099098-C-A | c.226G>T | p.Ala76Ser | Missense | 2/32 | - | 1 |
21-34099100-C-A | c.224G>T | p.Gly75Val | Missense | 2/32 | - | 1 |
21-34099100-C-T | c.224G>A | p.Gly75Glu | Missense | 2/32 | - | 1 |
21-34099108-G-A | c.216C>T | p.Phe72Phe | Synonymous | 2/32 | - | 1 |
21-34099108-G-C | c.216C>G | p.Phe72Leu | Missense | 2/32 | - | 1 |
21-34099111-C-A | c.213G>T | p.Met71Ile | Missense | 2/32 | - | 1 |
21-34099111-C-T | c.213G>A | p.Met71Ile | Missense | 2/32 | - | 1 |
21-34099114-G-C | c.210C>G | p.Leu70Leu | Synonymous | 2/32 | - | 1 |
21-34099124-T-G | c.200A>C | p.Glu67Ala | Missense | 2/32 | - | 2 |
21-34099130-T-A | c.194A>T | p.His65Leu | Missense | 2/32 | - | 1 |
21-34099130-T-G | c.194A>C | p.His65Pro | Missense | 2/32 | - | 1 |
21-34099133-C-G | c.191G>C | p.Arg64Thr | Missense | 2/32 | - | 1 |
21-34099133-C-T | c.191G>A | p.Arg64Lys | Missense | 2/32 | - | 1 |
21-34099142-A-C | c.182T>G | p.Val61Gly | Missense | 2/32 | - | 1 |
21-34099144-T-C | c.180A>G | p.Ile60Met | Missense | 2/32 | - | 1 |
21-34099144-T-G | c.180A>C | p.Ile60Ile | Synonymous | 2/32 | - | 1 |
21-34099146-T-C | c.178A>G | p.Ile60Val | Missense | 2/32 | - | 1 |
21-34099150-G-T | c.174C>A | p.Ser58Arg | Missense | 2/32 | - | 1 |
21-34099151-C-T | c.173G>A | p.Ser58Asn | Missense | 2/32 | - | 1 |
21-34099160-G-A | c.164C>T | p.Pro55Leu | Missense | 2/32 | - | 1 |
21-34099164-G-A | c.160C>T | p.Pro54Ser | Missense | 2/32 | - | 1 |
21-34099164-G-T | c.160C>A | p.Pro54Thr | Missense | 2/32 | - | 1 |
21-34099166-T-C | c.158A>G | p.Asp53Gly | Missense | 2/32 | - | 1 |
21-34099169-A-G | c.155T>C | p.Leu52Ser | Missense | 2/32 | - | 1 |
21-34099174-G-C | c.150C>G | p.His50Gln | Missense | 2/32 | - | 1 |
21-34099182-T-C | c.142A>G | p.Ile48Val | Missense | 2/32 | - | 1 |
21-34099187-A-T | c.137T>A | p.Phe46Tyr | Missense | 2/32 | - | 1 |
21-34099196-C-T | c.128G>A | p.Ser43Asn | Missense | 2/32 | - | 1 |
21-34099201-C-A | c.123G>T | p.Ala41Ala | Synonymous | 2/32 | - | 1 |
21-34099201-C-T | c.123G>A | p.Ala41Ala | Synonymous | 2/32 | - | 2 |
21-34099211-C-G | c.113G>C | p.Arg38Thr | Missense | 2/32 | - | 1 |
21-34099232-C-A | c.96-4G>T | - | IntronicSNV | - | 1/31 | 1 |
21-34099232-C-T | c.96-4G>A | - | IntronicSNV | - | 1/31 | 1 |
21-34100254-C-A | c.95+3G>T | - | IntronicSNV | - | 1/31 | 1 |
21-34100254-C-G | c.95+3G>C | - | IntronicSNV | - | 1/31 | 1 |
21-34100254-C-T | c.95+3G>A | - | IntronicSNV | - | 1/31 | 1 |
21-34100265-C-G | c.87G>C | p.Arg29Arg | Synonymous | 1/32 | - | 1 |
21-34100265-C-T | c.87G>A | p.Arg29Arg | Synonymous | 1/32 | - | 1 |
21-34100272-C-T | c.80G>A | p.Arg27Lys | Missense | 1/32 | - | 1 |
21-34100283-T-C | c.69A>G | p.Arg23Arg | Synonymous | 1/32 | - | 1 |
21-34100288-C-T | c.64G>A | p.Gly22Arg | Missense | 1/32 | - | 1 |
21-34100293-C-T | c.59G>A | p.Gly20Asp | Missense | 1/32 | - | 1 |
21-34100294-C-A | c.58G>T | p.Gly20Cys | Missense | 1/32 | - | 1 |
21-34100294-C-T | c.58G>A | p.Gly20Ser | Missense | 1/32 | - | 1 |
21-34100297-C-T | c.55G>A | p.Gly19Ser | Missense | 1/32 | - | 1 |
21-34100298-G-A | c.54C>T | p.Gly18Gly | Synonymous | 1/32 | - | 1 |
21-34100298-G-T | c.54C>A | p.Gly18Gly | Synonymous | 1/32 | - | 1 |
21-34100302-C-T | c.50G>A | p.Cys17Tyr | Missense | 1/32 | - | 1 |
21-34100307-G-A | c.45C>T | p.Gly15Gly | Synonymous | 1/32 | - | 1 |
21-34100307-G-C | c.45C>G | p.Gly15Gly | Synonymous | 1/32 | - | 1 |
21-34100317-T-C | c.35A>G | p.Asp12Gly | Missense | 1/32 | - | 1 |
21-34100319-A-C | c.33T>G | p.Ser11Arg | Missense | 1/32 | - | 1 |
21-34100320-C-T | c.32G>A | p.Ser11Asn | Missense | 1/32 | - | 1 |