DICER1 dicer 1, ribonuclease III

Canonical transcript: NM_030621

1202 unique variant annotations were identified in 615 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
14-95553099-A-C c.*3736T>G - 3-UTRSNV 29/29 - 1
14-95553099-A-G c.*3736T>C - 3-UTRSNV 29/29 - 1
14-95553362-A-G c.*3473T>C - 3-UTRSNV 29/29 - 63
14-95554142-T-C c.*2693A>G - 3-UTRSNV 29/29 - 40
14-95554455-A-G c.*2380T>C - 3-UTRSNV 29/29 - 1
14-95554455-A-T c.*2380T>A - 3-UTRSNV 29/29 - 1
14-95554526-T-C c.*2309A>G - 3-UTRSNV 29/29 - 1
14-95555205-C-T c.*1630G>A - 3-UTRSNV 29/29 - 4
14-95555962-C-T c.*873G>A - 3-UTRSNV 29/29 - 1
14-95556402-C-A c.*433G>T - 3-UTRSNV 29/29 - 6
14-95556747-A-T c.*88T>A - 3-UTRSNV 29/29 - 37
14-95556886-T-G c.5718A>C p.Arg1906Ser Missense 29/29 - 5
14-95556912-T-C c.5692A>G p.Arg1898Gly Missense 29/29 - 1
14-95556948-C-T c.5656G>A p.Gly1886Arg Missense 29/29 - 3
14-95556951-C-T c.5653G>A p.Val1885Ile Missense 29/29 - 1
14-95556961-A-G c.5643T>C p.Thr1881Thr Synonymous 29/29 - 1
14-95556982-G-T c.5622C>A p.Tyr1874* Nonsense 29/29 - 1
14-95557424-G-A c.5550C>T p.Pro1850Pro Synonymous 28/29 - 1
14-95557424-G-C c.5550C>G p.Pro1850Pro Synonymous 28/29 - 1
14-95557426-G-A c.5548C>T p.Pro1850Ser Missense 28/29 - 1
14-95557533-A-G c.5527+7T>C - IntronicSNV - 27/28 1
14-95557533-A-T c.5527+7T>A - IntronicSNV - 27/28 2
14-95557537-T-C c.5527+3A>G - IntronicSNV - 27/28 1
14-95557560-G-A c.5507C>T p.Pro1836Leu Missense 27/29 - 3
14-95557560-GGGAT-G c.5504_5507del p.Tyr1835Serfs*2 Frameshift 27/29 - 1
14-95557560-G-T c.5507C>A p.Pro1836His Missense 27/29 - 2
14-95557563-T-C c.5504A>G p.Tyr1835Cys Missense 27/29 - 1
14-95557563-T-G c.5504A>C p.Tyr1835Ser Missense 27/29 - 2
14-95557572-T-C c.5495A>G p.Gln1832Arg Missense 27/29 - 1
14-95557574-C-T c.5493G>A p.Trp1831* Nonsense 27/29 - 2
14-95557575-C-T c.5492G>A p.Trp1831* Nonsense 27/29 - 2
14-95557579-C-A c.5488G>T p.Val1830Phe Missense 27/29 - 1
14-95557590-G-T c.5477C>A p.Ser1826* Nonsense 27/29 - 3
14-95557596-C-A c.5471G>T p.Gly1824Val Missense 27/29 - 3
14-95557596-C-T c.5471G>A p.Gly1824Glu Missense 27/29 - 1
14-95557597-CCACTATCC-C c.5467_5474del p.Ser1823Valfs*34 Frameshift 27/29 - 1
14-95557602-T-A c.5465A>T p.Asp1822Val Missense 27/29 - 5
14-95557607-G-C c.5460C>G p.Tyr1820* Nonsense 27/29 - 2
14-95557607-G-T c.5460C>A p.Tyr1820* Nonsense 27/29 - 2
14-95557615-C-T c.5452G>A p.Ala1818Thr Missense 27/29 - 4
14-95557626-G-A c.5441C>T p.Ser1814Leu Missense 27/29 - 7
14-95557627-GACTCAAAAATATCCC-G c.5426_5440del p.Gly1809_Ser1814delinsAla MultiAAMissense 27/29 - 1
14-95557628-C-A c.5439G>T p.Glu1813Asp Missense 27/29 - 22
14-95557628-C-G c.5439G>C p.Glu1813Asp Missense 27/29 - 19
14-95557628-C-T c.5439G>A p.Glu1813Glu Synonymous 27/29 - 2
14-95557629-T-A c.5438A>T p.Glu1813Val Missense 27/29 - 9
14-95557629-T-C c.5438A>G p.Glu1813Gly Missense 27/29 - 31
14-95557629-T-G c.5438A>C p.Glu1813Ala Missense 27/29 - 8
14-95557630-C-G c.5437G>C p.Glu1813Gln Missense 27/29 - 21
14-95557630-C-T c.5437G>A p.Glu1813Lys Missense 27/29 - 24
14-95557637-TATC-T c.5428_5430del p.Asp1810del InFrameDeletion 27/29 - 2
14-95557638-T-A c.5429A>T p.Asp1810Val Missense 27/29 - 12
14-95557638-T-C c.5429A>G p.Asp1810Gly Missense 27/29 - 5
14-95557638-T-G c.5429A>C p.Asp1810Ala Missense 27/29 - 2
14-95557639-C-A c.5428G>T p.Asp1810Tyr Missense 27/29 - 21
14-95557639-C-G c.5428G>C p.Asp1810His Missense 27/29 - 19
14-95557639-C-T c.5428G>A p.Asp1810Asn Missense 27/29 - 8
14-95557640-C-T c.5427G>A p.Gly1809Gly Synonymous 27/29 - 1
14-95557641-C-A c.5426G>T p.Gly1809Val Missense 27/29 - 2
14-95557641-C-T c.5426G>A p.Gly1809Glu Missense 27/29 - 1
14-95557642-C-A c.5425G>T p.Gly1809Trp Missense 27/29 - 3
14-95557642-C-G c.5425G>C p.Gly1809Arg Missense 27/29 - 15
14-95557642-C-T c.5425G>A p.Gly1809Arg Missense 27/29 - 30
14-95557656-A-C c.5411T>G p.Val1804Gly Missense 27/29 - 1
14-95557658-T-A c.5409A>T p.Glu1803Asp Missense 27/29 - 1
14-95557658-T-G c.5409A>C p.Glu1803Asp Missense 27/29 - 1
14-95557660-C-T c.5407G>A p.Glu1803Lys Missense 27/29 - 1
14-95557676-C-A c.5391G>T p.Glu1797Asp Missense 27/29 - 3
14-95557676-C-G c.5391G>C p.Glu1797Asp Missense 27/29 - 3
14-95557703-C-A c.5365-1G>T - IntronicSNV - 26/28 2
14-95557703-C-T c.5365-1G>A - IntronicSNV - 26/28 1
14-95558492-C-T c.5365-790G>A - IntronicSNV - 26/28 1
14-95559038-A-C c.5364+1187T>G - IntronicSNV - 26/28 1
14-95559193-TTGGAAGTCTACGAGCTGGTCCCGCCTTCTCGCCTCACAGCCTGCCACGCTCCAGCTCAG-T c.5364+974_5364+1032del - Unclassified - 26/28 1
14-95559858-A-G c.5364+367T>C - IntronicSNV - 26/28 4
14-95559870-GCTACACTGGGCTTTTACTAAAGCTAAACCTGCCTTGGGGTCCGGCAGTGGAGGCCACTT-G c.5364+297_5364+355del - Unclassified - 26/28 1
14-95560081-C-A c.5364+144G>T - IntronicSNV - 26/28 1
14-95560081-C-T c.5364+144G>A - IntronicSNV - 26/28 1
14-95560225-CTC-TTT c.5362_5364delinsAAA p.Glu1788Lys Missense 26/29 - 1
14-95560227-C-A c.5362G>T p.Glu1788* Nonsense 26/29 - 1
14-95560227-C-CC c.5362dup p.Glu1788Glyfs*3 SpliceDonorInsertion 26/29 - 2
14-95560228-A-AA c.5361dup p.Glu1788* Nonsense 26/29 - 2
14-95560242-G-A c.5347C>T p.Gln1783* Nonsense 26/29 - 3
14-95560242-G-T c.5347C>A p.Gln1783Lys Missense 26/29 - 1
14-95560252-C-T c.5337G>A p.Lys1779Lys Synonymous 26/29 - 1
14-95560253-TT-GC c.5335_5336delinsGC p.Lys1779Ala Missense 26/29 - 1
14-95560256-CT-C c.5333del p.Glu1778Glyfs*60 Frameshift 26/29 - 1
14-95560259-A-T c.5330T>A p.Leu1777His Missense 26/29 - 3
14-95560260-G-A c.5329C>T p.Leu1777Phe Missense 26/29 - 1
14-95560260-G-C c.5329C>G p.Leu1777Val Missense 26/29 - 1
14-95560263-G-A c.5326C>T p.Gln1776* Nonsense 26/29 - 1
14-95560274-AAA-A c.5315_5316del p.Phe1772Cysfs*6 Frameshift 26/29 - 1
14-95560296-G-T c.5293C>A p.Leu1765Ile Missense 26/29 - 1
14-95560313-T-C c.5276A>G p.Lys1759Arg Missense 26/29 - 3
14-95560333-G-A c.5256C>T p.Tyr1752Tyr Synonymous 26/29 - 1
14-95560348-C-A c.5241G>T p.Ser1747Ser Synonymous 26/29 - 1
14-95560348-C-T c.5241G>A p.Ser1747Ser Synonymous 26/29 - 1
14-95560349-G-A c.5240C>T p.Ser1747Leu Missense 26/29 - 1
14-95560354-CAAA-C c.5233_5235del p.Phe1745del InFrameDeletion 26/29 - 2
14-95560386-G-A c.5203C>T p.Leu1735Leu Synonymous 26/29 - 1
14-95560389-C-CA c.5199_5200insT p.Asp1734* Nonsense 26/29 - 1
14-95560390-T-TT c.5199dup p.Asp1734Argfs*31 Frameshift 26/29 - 1
14-95560399-C-T c.5190G>A p.Gly1730Gly Synonymous 26/29 - 1
14-95560413-G-A c.5176C>T p.Gln1726* Nonsense 26/29 - 1
14-95560415-C-T c.5174G>A p.Arg1725Gln Missense 26/29 - 4
14-95560434-G-A c.5155C>T p.His1719Tyr Missense 26/29 - 1
14-95560444-G-A c.5145C>T p.Leu1715Leu Synonymous 26/29 - 4
14-95560451-T-A c.5138A>T p.Asp1713Val Missense 26/29 - 9
14-95560451-T-G c.5138A>C p.Asp1713Ala Missense 26/29 - 3
14-95560452-C-A c.5137G>T p.Asp1713Tyr Missense 26/29 - 1
14-95560456-A-C c.5133T>G p.Ile1711Met Missense 26/29 - 2
14-95560462-A-T c.5127T>A p.Asp1709Glu Missense 26/29 - 10
14-95560463-ATCTCCCA-A c.5122_5128del p.Gly1708Argfs*7 Frameshift 26/29 - 1
14-95560463-T-A c.5126A>T p.Asp1709Val Missense 26/29 - 4
14-95560463-T-C c.5126A>G p.Asp1709Gly Missense 26/29 - 9
14-95560463-TC-CA c.5125_5126delinsTG p.Asp1709Cys Missense 26/29 - 1
14-95560463-T-G c.5126A>C p.Asp1709Ala Missense 26/29 - 4
14-95560464-C-A c.5125G>T p.Asp1709Tyr Missense 26/29 - 3
14-95560464-C-G c.5125G>C p.Asp1709His Missense 26/29 - 7
14-95560464-C-T c.5125G>A p.Asp1709Asn Missense 26/29 - 40
14-95560466-C-T c.5123G>A p.Gly1708Glu Missense 26/29 - 3
14-95560467-C-G c.5122G>C p.Gly1708Arg Missense 26/29 - 1
14-95560467-C-T c.5122G>A p.Gly1708Arg Missense 26/29 - 1
14-95560471-G-C c.5118C>G p.Phe1706Leu Missense 26/29 - 2
14-95560471-G-T c.5118C>A p.Phe1706Leu Missense 26/29 - 2
14-95560473-A-G c.5116T>C p.Phe1706Leu Missense 26/29 - 2
14-95560475-T-A c.5114A>T p.Glu1705Val Missense 26/29 - 5
14-95560475-T-G c.5114A>C p.Glu1705Ala Missense 26/29 - 1
14-95560476-C-G c.5113G>C p.Glu1705Gln Missense 26/29 - 2
14-95560476-C-T c.5113G>A p.Glu1705Lys Missense 26/29 - 30
14-95560480-GCG-TGA c.5107_5109delinsTCA p.Arg1703Ser Nonsense 26/29 - 2
14-95560485-G-A c.5104C>T p.Gln1702* Nonsense 26/29 - 5
14-95560486-G-T c.5103C>A p.Tyr1701* Nonsense 26/29 - 2
14-95560505-C-T c.5096-12G>A - IntronicSNV - 25/28 4
14-95560534-C-A c.5096-41G>T - IntronicSNV - 25/28 1
14-95560918-T-C c.5096-425A>G - IntronicSNV - 25/28 1
14-95561608-T-G c.5095+554A>C - IntronicSNV - 25/28 2
14-95562162-C-T c.5095G>A p.Asp1699Asn Missense 25/29 - 2
14-95562180-G-T c.5077C>A p.His1693Asn Missense 25/29 - 3
14-95562192-G-A c.5065C>T p.His1689Tyr Missense 25/29 - 1
14-95562204-G-A c.5053C>T p.Gln1685* Nonsense 25/29 - 1
14-95562205-G-C c.5052C>G p.Leu1684Leu Synonymous 25/29 - 1
14-95562230-C-G c.5027G>C p.Arg1676Thr Missense 25/29 - 1
14-95562230-C-T c.5027G>A p.Arg1676Lys Missense 25/29 - 1
14-95562238-TGATT-T c.5018_5021del p.Ile1673Thrfs*31 Frameshift 25/29 - 1
14-95562241-TTTT-T c.5015_5017del p.Lys1672del InFrameDeletion 25/29 - 1
14-95562244-C-G c.5013G>C p.Lys1671Asn Missense 25/29 - 1
14-95562257-TT-T c.5003del p.Asn1668Ilefs*37 Frameshift 25/29 - 1
14-95562266-G-T c.4991C>A p.Ser1664* Nonsense 25/29 - 1
14-95562271-A-G c.4986T>C p.Leu1662Leu Synonymous 25/29 - 1
14-95562303-G-A c.4954C>T p.His1652Tyr Missense 25/29 - 1
14-95562308-A-C c.4949T>G p.Phe1650Cys Missense 25/29 - 1
14-95562312-T-C c.4945A>G p.Met1649Val Missense 25/29 - 2
14-95562347-G-A c.4910C>T p.Ser1637Leu Missense 25/29 - 1
14-95562347-G-C c.4910C>G p.Ser1637Trp Missense 25/29 - 1
14-95562347-G-T c.4910C>A p.Ser1637* Nonsense 25/29 - 1
14-95562356-A-G c.4901T>C p.Leu1634Ser Missense 25/29 - 1
14-95562361-A-G c.4896T>C p.Ser1632Ser Synonymous 25/29 - 1
14-95562363-A-G c.4894T>C p.Ser1632Pro Missense 25/29 - 1
14-95562366-A-C c.4891T>G p.Ser1631Ala Missense 25/29 - 5
14-95562366-A-G c.4891T>C p.Ser1631Pro Missense 25/29 - 3
14-95562368-C-A c.4889G>T p.Arg1630Leu Missense 25/29 - 1
14-95562368-C-T c.4889G>A p.Arg1630His Missense 25/29 - 1
14-95562369-G-A c.4888C>T p.Arg1630Cys Missense 25/29 - 1
14-95562373-A-G c.4884T>C p.Ser1628Ser Synonymous 25/29 - 1
14-95562384-A-G c.4873T>C p.Ser1625Pro Missense 25/29 - 1
14-95562387-C-G c.4870G>C p.Ala1624Pro Missense 25/29 - 1
14-95562404-G-A c.4853C>T p.Ser1618Leu Missense 25/29 - 1
14-95562404-G-T c.4853C>A p.Ser1618* Nonsense 25/29 - 1
14-95562432-T-G c.4825A>C p.Asn1609His Missense 25/29 - 1
14-95562437-C-T c.4820G>A p.Arg1607Gln Missense 25/29 - 1
14-95562438-G-A c.4819C>T p.Arg1607Trp Missense 25/29 - 2
14-95562443-G-T c.4814C>A p.Pro1605His Missense 25/29 - 1
14-95562450-G-A c.4807C>T p.Leu1603Leu Synonymous 25/29 - 1
14-95562452-G-C c.4805C>G p.Ala1602Gly Missense 25/29 - 1
14-95562452-G-GG c.4807dup p.Leu1603Profs*49 Frameshift 25/29 - 1
14-95562453-C-T c.4804G>A p.Ala1602Thr Missense 25/29 - 1
14-95562455-T-A c.4802A>T p.Lys1601Met Missense 25/29 - 1
14-95562458-TT-T c.4802del p.Lys1601Argfs*19 Frameshift 25/29 - 1
14-95562459-C-CA c.4797_4798insT p.Glu1600* Nonsense 25/29 - 1
14-95562461-C-A c.4796G>T p.Arg1599Leu Missense 25/29 - 1
14-95562461-C-T c.4796G>A p.Arg1599Gln Missense 25/29 - 2
14-95562478-T-TT c.4780dup p.Ile1594Asnfs*2 Frameshift 25/29 - 1
14-95562484-G-A c.4773C>T p.Leu1591Leu Synonymous 25/29 - 1
14-95562484-G-C c.4773C>G p.Leu1591Leu Synonymous 25/29 - 1
14-95562502-T-A c.4755A>T p.Ser1585Ser Synonymous 25/29 - 1
14-95562502-T-C c.4755A>G p.Ser1585Ser Synonymous 25/29 - 1
14-95562503-G-A c.4754C>T p.Ser1585Leu Missense 25/29 - 1
14-95562503-G-C c.4754C>G p.Ser1585* Nonsense 25/29 - 3
14-95562509-A-C c.4748T>G p.Leu1583Arg Missense 25/29 - 7
14-95562517-C-A c.4740G>T p.Gln1580His Missense 25/29 - 8
14-95562525-C-T c.4732G>A p.Ala1578Thr Missense 25/29 - 1
14-95562534-C-T c.4723G>A p.Gly1575Arg Missense 25/29 - 1
14-95562538-G-A c.4719C>T p.Ser1573Ser Synonymous 25/29 - 1
14-95562559-C-G c.4698G>C p.Leu1566Leu Synonymous 25/29 - 1
14-95562566-T-G c.4691A>C p.Glu1564Ala Missense 25/29 - 2
14-95562572-C-CG c.4684_4685insC p.Cys1562Serfs*34 Frameshift 25/29 - 1
14-95562577-C-A c.4680G>T p.Ala1560Ala Synonymous 25/29 - 2
14-95562577-C-G c.4680G>C p.Ala1560Ala Synonymous 25/29 - 2
14-95562577-C-T c.4680G>A p.Ala1560Ala Synonymous 25/29 - 3
14-95562578-GC-TA c.4678_4679delinsTA p.Ala1560* Nonsense 25/29 - 1
14-95562579-C-T c.4678G>A p.Ala1560Thr Missense 25/29 - 1
14-95562582-T-C c.4675A>G p.Ile1559Val Missense 25/29 - 1
14-95562590-T-TT c.4667dup p.Asp1556Glufs*40 Frameshift 25/29 - 1
14-95562593-G-C c.4664C>G p.Ala1555Gly Missense 25/29 - 2
14-95562605-T-TAGCA c.4651_4652insTGCT p.Glu1551Valfs*7 Frameshift 25/29 - 1
14-95562610-G-A c.4647C>T p.His1549His Synonymous 25/29 - 1
14-95562626-A-AA c.4633dup p.Ser1545Phefs*7 Frameshift 25/29 - 1
14-95562626-A-T c.4631T>A p.Ile1544Asn Missense 25/29 - 1
14-95562631-AC-A c.4626del p.Gln1542Hisfs*18 Frameshift 25/29 - 2
14-95562641-G-A c.4616C>T p.Thr1539Met Missense 25/29 - 3
14-95562669-G-A c.4588C>T p.Pro1530Ser Missense 25/29 - 1
14-95562682-C-T c.4575G>A p.Val1525Val Synonymous 25/29 - 1
14-95562684-C-A c.4573G>T p.Val1525Leu Missense 25/29 - 1
14-95562684-C-G c.4573G>C p.Val1525Leu Missense 25/29 - 1
14-95562692-T-C c.4565A>G p.Asp1522Gly Missense 25/29 - 1
14-95562702-C-A c.4555G>T p.Glu1519* Nonsense 25/29 - 1
14-95562739-C-T c.4518G>A p.Trp1506* Nonsense 25/29 - 2
14-95562740-C-T c.4517G>A p.Trp1506* Nonsense 25/29 - 2
14-95562742-A-C c.4515T>G p.Ser1505Ser Synonymous 25/29 - 1
14-95562742-A-G c.4515T>C p.Ser1505Ser Synonymous 25/29 - 2
14-95562742-AG-AA c.4514delinsT p.Ser1505Phe Nonsense 25/29 - 2
14-95562742-A-T c.4515T>A p.Ser1505Ser Synonymous 25/29 - 1
14-95562773-G-C c.4484C>G p.Ser1495* Nonsense 25/29 - 1
14-95562773-G-T c.4484C>A p.Ser1495* Nonsense 25/29 - 1
14-95562778-T-TT c.4479dup p.Phe1494Ilefs*6 Frameshift 25/29 - 1
14-95562780-G-A c.4477C>T p.Pro1493Ser Missense 25/29 - 1
14-95562782-A-G c.4475T>C p.Met1492Thr Missense 25/29 - 1
14-95562804-T-A c.4453A>T p.Lys1485* Nonsense 25/29 - 2
14-95562804-TT-T c.4458del p.Lys1486Asnfs*4 Frameshift 25/29 - 1
14-95562815-C-T c.4442G>A p.Trp1481* Nonsense 25/29 - 1
14-95562816-A-G c.4441T>C p.Trp1481Arg Missense 25/29 - 1
14-95562816-A-T c.4441T>A p.Trp1481Arg Missense 25/29 - 1
14-95562820-A-G c.4437T>C p.Tyr1479Tyr Synonymous 25/29 - 1
14-95562830-T-G c.4427A>C p.Asp1476Ala Missense 25/29 - 3
14-95562831-C-T c.4426G>A p.Asp1476Asn Missense 25/29 - 1
14-95562834-T-C c.4423A>G p.Thr1475Ala Missense 25/29 - 1
14-95562837-T-C c.4420A>G p.Thr1474Ala Missense 25/29 - 1
14-95562850-AAAGA-A c.4407_4410del p.Ser1470Leufs*19 Frameshift 25/29 - 5
14-95562850-A-G c.4407T>C p.Leu1469Leu Synonymous 25/29 - 1
14-95562851-A-G c.4406T>C p.Leu1469Pro Missense 25/29 - 3
14-95562854-AGAGA-A c.4403_4406del p.Ser1468Phefs*21 Frameshift 25/29 - 1
14-95562856-AGA-A c.4405_4406del p.Leu1469Phefs*7 Frameshift 25/29 - 4
14-95562856-G-A c.4401C>T p.Ile1467Ile Synonymous 25/29 - 1
14-95562880-C-T c.4377G>A p.Gly1459Gly Synonymous 25/29 - 1
14-95562882-C-T c.4375G>A p.Gly1459Arg Missense 25/29 - 1
14-95562894-T-TT c.4364dup p.Asn1455Lysfs*22 Frameshift 25/29 - 1
14-95562947-GTCAG-G c.4309_4312del p.Asp1437Metfs*16 Frameshift 25/29 - 4
14-95562949-A-AA c.4308dup p.Asp1437* Nonsense 25/29 - 1
14-95562976-C-A c.4281G>T p.Leu1427Leu Synonymous 25/29 - 1
14-95562976-C-T c.4281G>A p.Leu1427Leu Synonymous 25/29 - 1
14-95562990-C-A c.4267G>T p.Glu1423* Nonsense 25/29 - 1
14-95563003-CCTC-C c.4260_4262del p.Glu1420del InFrameDeletion 25/29 - 4
14-95563006-G-C c.4251C>G p.Tyr1417* Nonsense 25/29 - 1
14-95563006-G-T c.4251C>A p.Tyr1417* Nonsense 25/29 - 1
14-95563009-ATC-TAA c.4246_4248delinsTTA p.Asp1416Leu Nonsense 25/29 - 1
14-95563012-C-T c.4245G>A p.Glu1415Glu Synonymous 25/29 - 1
14-95563029-T-A c.4228A>T p.Asn1410Tyr Missense 25/29 - 1
14-95563050-T-A c.4207A>T p.Thr1403Ser Missense 25/29 - 1
14-95563053-G-A c.4207-3C>T - IntronicSNV - 24/28 1
14-95563057-C-T c.4207-7G>A - IntronicSNV - 24/28 1
14-95563712-T-C c.4207-662A>G - IntronicSNV - 24/28 9
14-95565497-G-A c.4206+620C>T - IntronicSNV - 24/28 1
14-95565556-T-C c.4206+561A>G - IntronicSNV - 24/28 1
14-95566096-C-A c.4206+21G>T - IntronicSNV - 24/28 1
14-95566108-C-A c.4206+9G>T - IntronicSNV - 24/28 2
14-95566109-A-ACAAA c.4206+8_4206+9insTTGT - IntronicInsertion - 24/28 1
14-95566109-A-ACACAAA c.4206+8_4206+9insTTGTGT - IntronicInsertion - 24/28 1
14-95566109-A-ACACAAAAA c.4206+8_4206+9insTTTTGTGT - IntronicInsertion - 24/28 1
14-95566109-A-ACACACAAA c.4206+8_4206+9insTTGTGTGT - IntronicInsertion - 24/28 1
14-95566109-A-ACACACAAAAA c.4206+8_4206+9insTTTTGTGTGT - IntronicInsertion - 24/28 1
14-95566109-A-ACACACACAAA c.4206+8_4206+9insTTGTGTGTGT - IntronicInsertion - 24/28 1
14-95566109-A-ACACACACACAAA c.4206+8_4206+9insTTGTGTGTGTGT - IntronicInsertion - 24/28 1
14-95566109-A-ACACACACACACAAA c.4206+8_4206+9insTTGTGTGTGTGTGT - IntronicInsertion - 24/28 1
14-95566109-A-ACACACACACACACAAA c.4206+8_4206+9insTTGTGTGTGTGTGTGT - IntronicInsertion - 24/28 1
14-95566116-C-G c.4206+1G>C - IntronicSNV - 24/28 1
14-95566124-T-C c.4199A>G p.Asp1400Gly Missense 24/29 - 1
14-95566130-TTCCC-T c.4190_4193del p.Trp1397* Frameshift 24/29 - 1
14-95566134-A-G c.4189T>C p.Trp1397Arg Missense 24/29 - 1
14-95566134-A-T c.4189T>A p.Trp1397Arg Missense 24/29 - 1
14-95566155-C-G c.4168G>C p.Asp1390His Missense 24/29 - 1
14-95566172-C-A c.4151G>T p.Gly1384Val Missense 24/29 - 1
14-95566175-G-A c.4148C>T p.Pro1383Leu Missense 24/29 - 1
14-95566215-C-A c.4108G>T p.Val1370Leu Missense 24/29 - 1
14-95566221-G-A c.4102C>T p.Arg1368Cys Missense 24/29 - 2
14-95566222-G-A c.4101C>T p.Ser1367Ser Synonymous 24/29 - 1
14-95566224-T-C c.4099A>G p.Ser1367Gly Missense 24/29 - 1
14-95566226-G-A c.4097C>T p.Pro1366Leu Missense 24/29 - 1
14-95566232-C-G c.4091G>C p.Gly1364Ala Missense 24/29 - 1
14-95566241-T-C c.4082A>G p.Lys1361Arg Missense 24/29 - 1
14-95566242-TTT-T c.4084_4085del p.Lys1362Glufs*13 Frameshift 24/29 - 1
14-95566259-T-C c.4064A>G p.Asn1355Ser Missense 24/29 - 1
14-95566296-C-A c.4051-24G>T - IntronicSNV - 23/28 1
14-95566311-T-A c.4051-39A>T - IntronicSNV - 23/28 1
14-95568003-C-T c.4050+1680G>A - IntronicSNV - 23/28 3
14-95568229-C-G c.4050+1454G>C - IntronicSNV - 23/28 1
14-95568229-C-T c.4050+1454G>A - IntronicSNV - 23/28 1
14-95568593-C-T c.4050+1090G>A - IntronicSNV - 23/28 1
14-95569682-C-T c.4050+1G>A - IntronicSNV - 23/28 3
14-95569683-CC-C c.4050+1del - IntronicDeletion 23/29 - 4
14-95569702-G-A c.4031C>T p.Ser1344Leu Missense 23/29 - 4
14-95569703-A-T c.4030T>A p.Ser1344Thr Missense 23/29 - 1
14-95569708-C-T c.4025G>A p.Arg1342His Missense 23/29 - 1
14-95569709-G-A c.4024C>T p.Arg1342Cys Missense 23/29 - 1
14-95569719-C-A c.4014G>T p.Ala1338Ala Synonymous 23/29 - 2
14-95569719-C-T c.4014G>A p.Ala1338Ala Synonymous 23/29 - 2
14-95569728-GG-G c.4007del p.Pro1336Leufs*11 Frameshift 23/29 - 1
14-95569729-T-TT c.4004dup p.Tyr1335* Nonsense 23/29 - 3
14-95569743-A-G c.3990T>C p.Tyr1330Tyr Synonymous 23/29 - 1
14-95569761-C-T c.3972G>A p.Lys1324Lys Synonymous 23/29 - 3
14-95569763-T-A c.3970A>T p.Lys1324* Nonsense 23/29 - 1
14-95569774-T-G c.3959A>C p.Asp1320Ala Missense 23/29 - 7
14-95569775-C-T c.3958G>A p.Asp1320Asn Missense 23/29 - 1
14-95569786-T-G c.3947A>C p.Glu1316Ala Missense 23/29 - 1
14-95569791-CCG-TGT c.3940_3942delinsACA p.Arg1314Thr Missense 23/29 - 1
14-95569794-C-T c.3939G>A p.Glu1313Glu Synonymous 23/29 - 1
14-95569825-AG-TA c.3907_3908delinsTA p.Leu1303* Nonsense 23/29 - 2
14-95569827-GAG-G c.3907_3908del p.Leu1303Valfs*4 Frameshift 23/29 - 3
14-95569874-A-C c.3859T>G p.Ser1287Ala Missense 23/29 - 1
14-95569882-C-G c.3851G>C p.Gly1284Ala Missense 23/29 - 1
14-95569886-T-C c.3847A>G p.Ile1283Val Missense 23/29 - 1
14-95569895-T-A c.3838A>T p.Ser1280Cys Missense 23/29 - 1
14-95569895-T-C c.3838A>G p.Ser1280Gly Missense 23/29 - 1
14-95569913-T-C c.3820A>G p.Arg1274Gly Missense 23/29 - 1
14-95569913-T-G c.3820A>C p.Arg1274Arg Synonymous 23/29 - 1
14-95569918-T-C c.3815A>G p.Lys1272Arg Missense 23/29 - 1
14-95569922-G-A c.3811C>T p.Leu1271Phe Missense 23/29 - 1
14-95569928-G-A c.3805C>T p.Gln1269* Nonsense 23/29 - 1
14-95569936-T-G c.3797A>C p.Asp1266Ala Missense 23/29 - 1
14-95569940-GT-G c.3793del p.Thr1265Glnfs*37 Frameshift 23/29 - 1
14-95569942-G-A c.3791C>T p.Thr1264Met Missense 23/29 - 2
14-95569955-C-T c.3778G>A p.Val1260Ile Missense 23/29 - 1
14-95569957-G-GG c.3777dup p.Val1260Argfs*19 Frameshift 23/29 - 1
14-95569960-A-G c.3773T>C p.Met1258Thr Missense 23/29 - 1
14-95569993-G-A c.3740C>T p.Ala1247Val Missense 23/29 - 1
14-95569998-TCC-AAC c.3734_3735delinsTT p.Gly1245Val Missense 23/29 - 1
14-95569999-CC-AC c.3734delinsT p.Gly1245Val Missense 23/29 - 1
14-95570005-A-G c.3728T>C p.Leu1243Pro Missense 23/29 - 1
14-95570006-G-A c.3727C>T p.Leu1243Phe Missense 23/29 - 1
14-95570007-G-T c.3726C>A p.Tyr1242* Nonsense 23/29 - 6
14-95570027-T-C c.3706A>G p.Thr1236Ala Missense 23/29 - 1
14-95570033-C-A c.3700G>T p.Glu1234* Nonsense 23/29 - 1
14-95570051-G-A c.3682C>T p.Gln1228* Nonsense 23/29 - 1
14-95570058-G-A c.3675C>T p.Tyr1225Tyr Synonymous 23/29 - 1
14-95570058-G-C c.3675C>G p.Tyr1225* Nonsense 23/29 - 4
14-95570059-T-C c.3674A>G p.Tyr1225Cys Missense 23/29 - 1
14-95570070-AA-A c.3665del p.Leu1222Tyrfs*17 Frameshift 23/29 - 3
14-95570075-G-A c.3658C>T p.Gln1220* Nonsense 23/29 - 1
14-95570084-A-T c.3649T>A p.Tyr1217Asn Missense 23/29 - 5
14-95570086-G-T c.3647C>A p.Ser1216* Nonsense 23/29 - 4
14-95570093-T-G c.3640A>C p.Thr1214Pro Missense 23/29 - 1
14-95570105-G-A c.3628C>T p.Pro1210Ser Missense 23/29 - 1
14-95570106-T-TT c.3627dup p.Pro1210Thrfs*25 Frameshift 23/29 - 1
14-95570121-G-C c.3612C>G p.Tyr1204* Nonsense 23/29 - 2
14-95570121-G-T c.3612C>A p.Tyr1204* Nonsense 23/29 - 2
14-95570122-TA-CT c.3610_3611delinsAG p.Tyr1204Ser Missense 23/29 - 1
14-95570129-G-A c.3604C>T p.Leu1202Leu Synonymous 23/29 - 1
14-95570141-G-A c.3592C>T p.Gln1198* Nonsense 23/29 - 1
14-95570142-G-C c.3591C>G p.Cys1197Trp Missense 23/29 - 1
14-95570148-G-A c.3585C>T p.Asp1195Asp Synonymous 23/29 - 1
14-95570152-TCT-T c.3583_3584del p.Asp1195Leufs*39 Frameshift 23/29 - 1
14-95570153-CT-C c.3580del p.Arg1194Glufs*9 Frameshift 23/29 - 1
14-95570154-TGT-T c.3579_3580del p.Asn1193Lysfs*41 Frameshift 23/29 - 1
14-95570161-A-T c.3572T>A p.Leu1191* Nonsense 23/29 - 1
14-95570163-A-T c.3570T>A p.Asp1190Glu Missense 23/29 - 1
14-95570166-A-G c.3567T>C p.Tyr1189Tyr Synonymous 23/29 - 1
14-95570173-C-T c.3560G>A p.Gly1187Asp Missense 23/29 - 1
14-95570176-T-A c.3557A>T p.Asn1186Ile Missense 23/29 - 2
14-95570176-T-C c.3557A>G p.Asn1186Ser Missense 23/29 - 2
14-95570180-C-G c.3553G>C p.Ala1185Pro Missense 23/29 - 1
14-95570180-C-T c.3553G>A p.Ala1185Thr Missense 23/29 - 2
14-95570181-G-A c.3552C>T p.Leu1184Leu Synonymous 23/29 - 1
14-95570181-G-T c.3552C>A p.Leu1184Leu Synonymous 23/29 - 1
14-95570189-G-A c.3544C>T p.Gln1182* Nonsense 23/29 - 1
14-95570193-G-C c.3540C>G p.Tyr1180* Nonsense 23/29 - 1
14-95570193-G-T c.3540C>A p.Tyr1180* Nonsense 23/29 - 6
14-95570197-GA-AT c.3535_3536delinsAT p.Ser1179Ile Missense 23/29 - 2
14-95570199-AAAGA-A c.3535_3538del p.Ser1179Thrfs*12 Frameshift 23/29 - 2
14-95570230-A-AA c.3505dup p.Ser1169Phefs*8 Frameshift 23/29 - 1
14-95570230-AA-A c.3505del p.Ser1169Glnfs*23 Frameshift 23/29 - 1
14-95570237-C-T c.3496G>A p.Val1166Ile Missense 23/29 - 1
14-95570238-G-A c.3495C>T p.His1165His Synonymous 23/29 - 1
14-95570238-G-C c.3495C>G p.His1165Gln Missense 23/29 - 1
14-95570238-G-T c.3495C>A p.His1165Gln Missense 23/29 - 1
14-95570242-A-AA c.3491dup p.His1165Profs*3 Frameshift 23/29 - 1
14-95570243-G-A c.3490C>T p.Leu1164Phe Missense 23/29 - 2
14-95570248-C-A c.3485G>T p.Gly1162Val Missense 23/29 - 1
14-95570254-G-T c.3479C>A p.Ser1160Tyr Missense 23/29 - 1
14-95570258-C-G c.3475G>C p.Glu1159Gln Missense 23/29 - 1
14-95570258-C-T c.3475G>A p.Glu1159Lys Missense 23/29 - 1
14-95570259-G-A c.3474C>T p.Ser1158Ser Synonymous 23/29 - 1
14-95570271-T-G c.3462A>C p.Arg1154Ser Missense 23/29 - 1
14-95570305-A-G c.3428T>C p.Leu1143Pro Missense 23/29 - 1
14-95570306-G-T c.3427C>A p.Leu1143Ile Missense 23/29 - 1
14-95570311-G-A c.3422C>T p.Ser1141Phe Missense 23/29 - 1
14-95570326-C-T c.3407G>A p.Gly1136Asp Missense 23/29 - 1
14-95570327-C-G c.3406G>C p.Gly1136Arg Missense 23/29 - 1
14-95570329-T-TT c.3405dup p.Gly1136Argfs*3 Frameshift 23/29 - 1
14-95570341-T-C c.3392A>G p.Asn1131Ser Missense 23/29 - 1
14-95570353-A-C c.3380T>G p.Ile1127Ser Missense 23/29 - 1
14-95570358-GCT-TGA c.3373_3375delinsTCA p.Ser1125Ser Nonsense 23/29 - 1
14-95570362-T-G c.3371A>C p.His1124Pro Missense 23/29 - 1
14-95570363-G-A c.3370C>T p.His1124Tyr Missense 23/29 - 1
14-95570370-G-C c.3363C>G p.Tyr1121* Nonsense 23/29 - 1
14-95570370-G-T c.3363C>A p.Tyr1121* Nonsense 23/29 - 1
14-95570395-G-A c.3338C>T p.Ser1113Phe Missense 23/29 - 1
14-95570395-G-T c.3338C>A p.Ser1113Tyr Missense 23/29 - 1
14-95570399-T-C c.3334A>G p.Asn1112Asp Missense 23/29 - 3
14-95570404-A-C c.3329T>G p.Ile1110Ser Missense 23/29 - 1
14-95570405-T-C c.3328A>G p.Ile1110Val Missense 23/29 - 3
14-95570407-G-A c.3326C>T p.Ser1109Leu Missense 23/29 - 1
14-95570411-T-C c.3322A>G p.Ile1108Val Missense 23/29 - 1
14-95570418-T-C c.3315A>G p.Lys1105Lys Synonymous 23/29 - 1
14-95570426-C-T c.3307G>A p.Asp1103Asn Missense 23/29 - 1
14-95570447-A-AAGAA c.3288_3289insTTTC p.Gly1097Phefs*8 Frameshift 23/29 - 3
14-95570452-A-C c.3281T>G p.Leu1094* Nonsense 23/29 - 1
14-95570452-A-T c.3281T>A p.Leu1094* Nonsense 23/29 - 1
14-95570452-TAA-T c.3280_3281del p.Leu1094Argfs*9 Frameshift 23/29 - 1
14-95570454-GTT-TAA c.3277_3279delinsTTA p.Asn1093Leu Nonsense 23/29 - 1
14-95570455-GTTAG-G c.3277_3280del p.Asn1093* Frameshift 23/29 - 1
14-95570459-G-A c.3274C>T p.Pro1092Ser Missense 23/29 - 1
14-95570460-G-C c.3273C>G p.Tyr1091* Nonsense 23/29 - 1
14-95570460-G-T c.3273C>A p.Tyr1091* Nonsense 23/29 - 1
14-95570461-T-G c.3272A>C p.Tyr1091Ser Missense 23/29 - 5
14-95570470-AA-A c.3270-5del - IntronicDeletion - 22/28 1
14-95570785-C-T c.3270-322G>A - IntronicSNV - 22/28 1
14-95571402-G-A c.3269+6C>T - IntronicSNV - 22/28 1
14-95571413-A-C c.3264T>G p.Asp1088Glu Missense 22/29 - 1
14-95571416-C-T c.3261G>A p.Ala1087Ala Synonymous 22/29 - 1
14-95571417-G-A c.3260C>T p.Ala1087Val Missense 22/29 - 1
14-95571417-G-C c.3260C>G p.Ala1087Gly Missense 22/29 - 1
14-95571417-G-T c.3260C>A p.Ala1087Glu Missense 22/29 - 1
14-95571421-G-A c.3256C>T p.Pro1086Ser Missense 22/29 - 1
14-95571434-CT-C c.3243del p.Val1082Serfs*13 Frameshift 22/29 - 1
14-95571438-A-AAAGCCA c.3241_3242insCTTTGG p.Val1080_Gly1081insAlaLeu InFrameInsertion 22/29 - 1
14-95571442-C-G c.3235G>C p.Gly1079Arg Missense 22/29 - 1
14-95571442-C-T c.3235G>A p.Gly1079Ser Missense 22/29 - 2
14-95571443-A-G c.3234T>C p.Ala1078Ala Synonymous 22/29 - 1
14-95571448-C-G c.3229G>C p.Asp1077His Missense 22/29 - 1
14-95571448-C-T c.3229G>A p.Asp1077Asn Missense 22/29 - 1
14-95571449-G-A c.3228C>T p.Ser1076Ser Synonymous 22/29 - 1
14-95571450-C-T c.3227G>A p.Ser1076Asn Missense 22/29 - 1
14-95571464-T-C c.3213A>G p.Arg1071Arg Synonymous 22/29 - 2
14-95571466-T-G c.3211A>C p.Arg1071Arg Synonymous 22/29 - 1
14-95571466-T-A c.3211A>T p.Arg1071* Nonsense 22/29 - 2
14-95571467-T-C c.3210A>G p.Leu1070Leu Synonymous 22/29 - 1
14-95571469-G-C c.3208C>G p.Leu1070Val Missense 22/29 - 1
14-95571477-G-A c.3200C>T p.Ala1067Val Missense 22/29 - 1
14-95571479-A-G c.3198T>C p.Thr1066Thr Synonymous 22/29 - 1
14-95571491-G-T c.3186C>A p.His1062Gln Missense 22/29 - 1
14-95571534-C-T c.3143G>A p.Trp1048* Nonsense 22/29 - 1
14-95571544-C-T c.3133G>A p.Ala1045Thr Missense 22/29 - 1
14-95571570-T-G c.3107A>C p.Glu1036Ala Missense 22/29 - 2
14-95571585-T-C c.3094-2A>G - IntronicSNV - 21/28 1
14-95571836-A-G c.3093+179T>C - IntronicSNV - 21/28 1
14-95572017-G-A c.3091C>T p.Gln1031* Nonsense 21/29 - 4
14-95572026-G-A c.3082C>T p.Gln1028* Nonsense 21/29 - 1
14-95572029-G-A c.3079C>T p.Leu1027Leu Synonymous 21/29 - 1
14-95572035-C-A c.3073G>T p.Glu1025* Nonsense 21/29 - 3
14-95572036-C-T c.3072G>A p.Trp1024* Nonsense 21/29 - 1
14-95572037-C-T c.3071G>A p.Trp1024* Nonsense 21/29 - 1
14-95572060-ACT-GAG c.3046_3048delinsCTC p.Ser1016Leu Missense 21/29 - 1
14-95572061-CT-GA c.3046_3047delinsTC p.Ser1016Ser Missense 21/29 - 1
14-95572061-CT-GC c.3046_3047delinsGC p.Ser1016Ala Missense 21/29 - 1
14-95572066-T-A c.3042A>T p.Leu1014Phe Missense 21/29 - 1
14-95572066-T-G c.3042A>C p.Leu1014Phe Missense 21/29 - 1
14-95572067-TAAAGGAAGCGCTT-T c.3033_3045del p.Leu1012Valfs*50 Frameshift 21/29 - 1
14-95572075-C-A c.3033G>T p.Ala1011Ala Synonymous 21/29 - 1
14-95572075-C-G c.3033G>C p.Ala1011Ala Synonymous 21/29 - 1
14-95572075-C-T c.3033G>A p.Ala1011Ala Synonymous 21/29 - 2
14-95572076-GC-TA c.3031_3032delinsTA p.Ala1011* Nonsense 21/29 - 1
14-95572086-T-TT c.3023dup p.Lys1010Glufs*9 Frameshift 21/29 - 1
14-95572089-G-A c.3019C>T p.Gln1007* Nonsense 21/29 - 2
14-95572100-C-T c.3008G>A p.Arg1003Gln Missense 21/29 - 3
14-95572101-G-A c.3007C>T p.Arg1003* Nonsense 21/29 - 4
14-95572104-G-A c.3004C>T p.Pro1002Ser Missense 21/29 - 1
14-95572111-A-C c.2997T>G p.Leu999Leu Synonymous 21/29 - 6
14-95572121-TCT-T c.2988-1_2988del - SpliceAcceptorDeletion - 20/28 5
14-95572191-A-G c.2988-71T>C - IntronicSNV - 20/28 1
14-95572213-A-G c.2988-93T>C - IntronicSNV - 20/28 1
14-95572379-T-A c.2986A>T p.Arg996* Nonsense 20/29 - 1
14-95572388-T-C c.2977A>G p.Thr993Ala Missense 20/29 - 1
14-95572392-G-T c.2973C>A p.Asp991Glu Missense 20/29 - 1
14-95572394-C-T c.2971G>A p.Asp991Asn Missense 20/29 - 1
14-95572409-G-A c.2956C>T p.Pro986Ser Missense 20/29 - 2
14-95572414-T-G c.2951A>C p.Asn984Thr Missense 20/29 - 1
14-95572431-A-C c.2934T>G p.Leu978Leu Synonymous 20/29 - 1
14-95572437-G-T c.2928C>A p.Tyr976* Nonsense 20/29 - 3
14-95572450-TA-GC c.2914_2915delinsGC p.Tyr972Ala Missense 20/29 - 3
14-95572453-TA-GC c.2911_2912delinsGC p.Tyr971Ala Missense 20/29 - 4
14-95572462-A-G c.2903T>C p.Phe968Ser Missense 20/29 - 1
14-95572467-T-C c.2898A>G p.Glu966Glu Synonymous 20/29 - 1
14-95572490-T-A c.2875A>T p.Lys959* Nonsense 20/29 - 1
14-95572502-GT-G c.2863del p.Thr955Profs*26 Frameshift 20/29 - 1
14-95572505-G-A c.2860C>T p.Leu954Phe Missense 20/29 - 1
14-95572510-G-A c.2855C>T p.Thr952Ile Missense 20/29 - 1
14-95572515-C-T c.2850G>A p.Val950Val Synonymous 20/29 - 1
14-95572517-C-T c.2848G>A p.Val950Met Missense 20/29 - 1
14-95572523-C-T c.2842G>A p.Ala948Thr Missense 20/29 - 1
14-95572533-T-A c.2832A>T p.Arg944Arg Synonymous 20/29 - 1
14-95572534-CG-AA c.2830_2831delinsTT p.Arg944Leu Missense 20/29 - 1
14-95572534-CG-GA c.2830_2831delinsTC p.Arg944Ser Missense 20/29 - 1
14-95572534-C-T c.2831G>A p.Arg944Gln Missense 20/29 - 1
14-95572535-G-A c.2830C>T p.Arg944* Nonsense 20/29 - 6
14-95572539-AGG-TAA c.2824_2826delinsTTA p.Pro942Leu Nonsense 20/29 - 1
14-95572555-C-T c.2810G>A p.Arg937His Missense 20/29 - 1
14-95572561-C-A c.2805-1G>T - IntronicSNV - 19/28 3
14-95572562-CT-C c.2805-2del - IntronicDeletion - 19/28 1
14-95572630-G-A c.2805-70C>T - IntronicSNV - 19/28 1
14-95572689-C-T c.2805-129G>A - IntronicSNV - 19/28 1
14-95572717-T-C c.2805-157A>G - IntronicSNV - 19/28 1
14-95573879-G-T c.2804+66C>A - IntronicSNV - 19/28 1
14-95573883-G-A c.2804+62C>T - IntronicSNV - 19/28 2
14-95573954-A-G c.2795T>C p.Ile932Thr Missense 19/29 - 1
14-95573956-A-C c.2793T>G p.Val931Val Synonymous 19/29 - 1
14-95573967-G-A c.2782C>T p.Gln928* Nonsense 19/29 - 1
14-95573997-T-A c.2752A>T p.Thr918Ser Missense 19/29 - 1
14-95573997-T-C c.2752A>G p.Thr918Ala Missense 19/29 - 1
14-95574021-G-A c.2728C>T p.Pro910Ser Missense 19/29 - 1
14-95574029-A-C c.2720T>G p.Ile907Arg Missense 19/29 - 1
14-95574029-A-G c.2720T>C p.Ile907Thr Missense 19/29 - 1
14-95574031-G-A c.2718C>T p.Arg906Arg Synonymous 19/29 - 2
14-95574032-C-A c.2717G>T p.Arg906Leu Missense 19/29 - 1
14-95574032-C-T c.2717G>A p.Arg906His Missense 19/29 - 1
14-95574039-C-A c.2710G>T p.Glu904* Nonsense 19/29 - 1
14-95574048-C-T c.2701G>A p.Glu901Lys Missense 19/29 - 1
14-95574060-T-C c.2689A>G p.Met897Val Missense 19/29 - 1
14-95574085-G-C c.2664C>G p.Ser888Arg Missense 19/29 - 1
14-95574089-G-A c.2660C>T p.Ser887Phe Missense 19/29 - 2
14-95574089-G-T c.2660C>A p.Ser887Tyr Missense 19/29 - 2
14-95574093-C-A c.2656G>T p.Asp886Tyr Missense 19/29 - 1
14-95574100-T-A c.2651-2A>T - IntronicSNV - 18/28 1
14-95574102-A-C c.2651-4T>G - IntronicSNV - 18/28 1
14-95574216-C-A c.2650+1G>T - IntronicSNV - 18/28 1
14-95574226-G-A c.2641C>T p.Leu881Phe Missense 18/29 - 1
14-95574226-G-T c.2641C>A p.Leu881Ile Missense 18/29 - 1
14-95574229-G-A c.2638C>T p.Pro880Ser Missense 18/29 - 1
14-95574240-T-G c.2627A>C p.Tyr876Ser Missense 18/29 - 1
14-95574250-C-T c.2617G>A p.Asp873Asn Missense 18/29 - 1
14-95574253-C-T c.2614G>A p.Ala872Thr Missense 18/29 - 9
14-95574271-C-T c.2596G>A p.Glu866Lys Missense 18/29 - 1
14-95574285-T-G c.2582A>C p.Glu861Ala Missense 18/29 - 9
14-95574290-CCG-TGT c.2575_2577delinsACA p.Arg859Thr Missense 18/29 - 1
14-95574292-G-A c.2575C>T p.Arg859Trp Missense 18/29 - 3
14-95574300-TG-TT c.2566delinsA p.His856Asn Missense 18/29 - 1
14-95574310-T-C c.2557A>G p.Ile853Val Missense 18/29 - 3
14-95574314-C-T c.2553G>A p.Gln851Gln Synonymous 18/29 - 1
14-95574322-G-A c.2545C>T p.Leu849Phe Missense 18/29 - 1
14-95574328-TAATC-AATGCTTGAAGTTGATT c.2535_2539delinsAATCAACTTCAAGCATT p.Thr847delinsAsnPheLysHisSer MultiAAMissense 18/29 - 1
14-95574331-T-C c.2536A>G p.Ile846Val Missense 18/29 - 1
14-95574337-C-A c.2530G>T p.Glu844* Nonsense 18/29 - 1
14-95574339-A-G c.2528T>C p.Leu843Pro Missense 18/29 - 1
14-95574346-G-A c.2521C>T p.Gln841* Nonsense 18/29 - 1
14-95574351-G-A c.2516C>T p.Ser839Phe Missense 18/29 - 9
14-95574355-A-C c.2512T>G p.Leu838Val Missense 18/29 - 1
14-95574377-C-T c.2490G>A p.Glu830Glu Synonymous 18/29 - 1
14-95574381-A-C c.2486T>G p.Ile829Ser Missense 18/29 - 1
14-95574389-G-T c.2478C>A p.Thr826Thr Synonymous 18/29 - 1
14-95574397-C-T c.2470G>A p.Glu824Lys Missense 18/29 - 1
14-95574406-G-A c.2461C>T p.Arg821Cys Missense 18/29 - 1
14-95574409-T-C c.2458A>G p.Thr820Ala Missense 18/29 - 1
14-95574410-G-C c.2457C>G p.Tyr819* Nonsense 18/29 - 7
14-95574410-TGTACACAGGAAAGTGTGGAAT-T c.2438_2458del p.Ile813_Tyr819del SpliceAcceptorDeletion 18/29 - 4
14-95574410-TGTA-T c.2455_2457del p.Tyr819del InFrameDeletion 18/29 - 2
14-95574412-A-G c.2455T>C p.Tyr819His Missense 18/29 - 1
14-95574418-GG-G c.2450del p.Pro817Leufs*15 Frameshift 18/29 - 2
14-95574421-A-AA c.2448dup p.Pro817Serfs*14 Frameshift 18/29 - 1
14-95574427-G-A c.2440C>T p.Pro814Ser Missense 18/29 - 1
14-95574431-C-T c.2437-1G>A - IntronicSNV - 17/28 1
14-95574660-C-T c.2436+1G>A - IntronicSNV - 17/28 1
14-95574663-G-GG c.2434dup p.Gln812Profs*19 SpliceDonorInsertion 17/29 - 1
14-95574677-G-A c.2420C>T p.Ala807Val Missense 17/29 - 1
14-95574680-G-A c.2417C>T p.Thr806Met Missense 17/29 - 1
14-95574683-A-T c.2414T>A p.Leu805Gln Missense 17/29 - 1
14-95574690-C-T c.2407G>A p.Gly803Arg Missense 17/29 - 5
14-95574694-AGCAT-A c.2400_2403del p.Arg800Serfs*5 Frameshift 17/29 - 2
14-95574694-G-T c.2403C>A p.Cys801* Nonsense 17/29 - 3
14-95574704-G-A c.2393C>T p.Thr798Ile Missense 17/29 - 1
14-95574705-T-TT c.2392dup p.Thr798Asnfs*33 Frameshift 17/29 - 2
14-95574707-T-C c.2390A>G p.Asp797Gly Missense 17/29 - 1
14-95574710-T-G c.2387A>C p.Glu796Ala Missense 17/29 - 1
14-95574718-A-C c.2379T>G p.Tyr793* Nonsense 17/29 - 7
14-95574719-T-C c.2378A>G p.Tyr793Cys Missense 17/29 - 1
14-95574727-C-T c.2370G>A p.Arg790Arg Synonymous 17/29 - 1
14-95574770-A-AA c.2330dup p.Leu777Phefs*7 Frameshift 17/29 - 1
14-95574785-T-A c.2312A>T p.Tyr771Phe Missense 17/29 - 1
14-95574786-A-C c.2311T>G p.Tyr771Asp Missense 17/29 - 1
14-95574809-C-T c.2288G>A p.Arg763Lys Missense 17/29 - 1
14-95574810-T-A c.2287A>T p.Arg763* Nonsense 17/29 - 1
14-95574817-A-AA c.2281dup p.Tyr761Leufs*5 Frameshift 17/29 - 1
14-95574828-AAACA-A c.2268_2271del p.Cys756* Frameshift 17/29 - 1
14-95574836-G-A c.2261C>T p.Pro754Leu Missense 17/29 - 2
14-95574847-T-C c.2257-7A>G - IntronicSNV - 16/28 1
14-95575414-A-G c.2257-574T>C - IntronicSNV - 16/28 3
14-95575414-A-T c.2257-574T>A - IntronicSNV - 16/28 3
14-95576298-T-C c.2256+1356A>G - IntronicSNV - 16/28 1
14-95577559-G-A c.2256+95C>T - IntronicSNV - 16/28 1
14-95577659-T-G c.2251A>C p.Lys751Gln Missense 16/29 - 1
14-95577662-G-A c.2248C>T p.Pro750Ser Missense 16/29 - 1
14-95577663-G-T c.2247C>A p.Tyr749* Nonsense 16/29 - 7
14-95577666-G-GTTAG c.2246_2247insACTA p.Tyr749* Nonsense 16/29 - 2
14-95577677-G-A c.2233C>T p.Arg745* Nonsense 16/29 - 3
14-95577680-TTCGTGGAA-T c.2223_2230del p.Ser742Thrfs*16 Frameshift 16/29 - 1
14-95577681-C-T c.2229G>A p.Thr743Thr Synonymous 16/29 - 1
14-95577685-G-T c.2225C>A p.Ser742Tyr Missense 16/29 - 1
14-95577686-A-C c.2224T>G p.Ser742Ala Missense 16/29 - 1
14-95577686-A-T c.2224T>A p.Ser742Thr Missense 16/29 - 1
14-95577688-C-T c.2222G>A p.Gly741Asp Missense 16/29 - 1
14-95577697-C-G c.2213G>C p.Gly738Ala Missense 16/29 - 1
14-95577711-C-T c.2199G>A p.Glu733Glu Synonymous 16/29 - 1
14-95577714-T-C c.2196A>G p.Glu732Glu Synonymous 16/29 - 1
14-95577716-C-T c.2194G>A p.Glu732Lys Missense 16/29 - 1
14-95577719-C-A c.2191G>T p.Glu731* Nonsense 16/29 - 1
14-95577728-A-C c.2182T>G p.Leu728Val Missense 16/29 - 2
14-95577729-A-C c.2181T>G p.Asp727Glu Missense 16/29 - 2
14-95577729-A-T c.2181T>A p.Asp727Glu Missense 16/29 - 2
14-95577754-G-T c.2156C>A p.Thr719Asn Missense 16/29 - 1
14-95577755-T-C c.2155A>G p.Thr719Ala Missense 16/29 - 1
14-95577763-C-T c.2147G>A p.Gly716Glu Missense 16/29 - 1
14-95577779-G-A c.2131C>T p.His711Tyr Missense 16/29 - 1
14-95577785-C-T c.2125G>A p.Asp709Asn Missense 16/29 - 1
14-95577791-C-T c.2119G>A p.Glu707Lys Missense 16/29 - 1
14-95577792-G-A c.2118C>T p.Gly706Gly Synonymous 16/29 - 1
14-95577793-C-T c.2117G>A p.Gly706Asp Missense 16/29 - 1
14-95577794-C-T c.2117-1G>A - IntronicSNV - 15/28 3
14-95577795-T-G c.2117-2A>C - IntronicSNV - 15/28 1
14-95577856-T-G c.2117-63A>C - IntronicSNV - 15/28 1
14-95578182-TTTG-T c.2116+325_2116+327del - IntronicDeletion - 15/28 1
14-95578444-T-A c.2116+65A>T - IntronicSNV - 15/28 1
14-95578502-T-C c.2116+7A>G - IntronicSNV - 15/28 1
14-95578510-A-G c.2115T>C p.Ile705Ile Synonymous 15/29 - 1
14-95578511-A-T c.2114T>A p.Ile705Asn Missense 15/29 - 1
14-95578521-G-A c.2104C>T p.Leu702Leu Synonymous 15/29 - 1
14-95578525-C-T c.2100G>A p.Glu700Glu Synonymous 15/29 - 1
14-95578526-T-C c.2099A>G p.Glu700Gly Missense 15/29 - 1
14-95578531-G-T c.2094C>A p.Cys698* Nonsense 15/29 - 1
14-95578535-A-T c.2090T>A p.Ile697Asn Missense 15/29 - 1
14-95578539-G-A c.2086C>T p.Leu696Phe Missense 15/29 - 1
14-95578548-C-T c.2077G>A p.Val693Ile Missense 15/29 - 1
14-95578549-TCT-TGT c.2075delinsC p.Arg692Thr Missense 15/29 - 1
14-95578555-A-T c.2070T>A p.Ala690Ala Synonymous 15/29 - 1
14-95578562-C-A c.2063G>T p.Arg688Leu Missense 15/29 - 1
14-95578562-C-T c.2063G>A p.Arg688Gln Missense 15/29 - 1
14-95578563-G-A c.2062C>T p.Arg688* Nonsense 15/29 - 5
14-95578575-T-A c.2050A>T p.Met684Leu Missense 15/29 - 2
14-95578575-T-C c.2050A>G p.Met684Val Missense 15/29 - 2
14-95578576-T-G c.2049A>C p.Pro683Pro Synonymous 15/29 - 1
14-95578577-G-C c.2048C>G p.Pro683Arg Missense 15/29 - 2
14-95578675-T-C c.2041-91A>G - IntronicSNV - 14/28 3
14-95579322-G-T c.2040+107C>A - IntronicSNV - 14/28 1
14-95579369-G-A c.2040+60C>T - IntronicSNV - 14/28 1
14-95579400-A-G c.2040+29T>C - IntronicSNV - 14/28 1
14-95579428-C-A c.2040+1G>T - IntronicSNV - 14/28 3
14-95579428-C-G c.2040+1G>C - IntronicSNV - 14/28 2
14-95579431-C-T c.2038G>A p.Val680Ile Missense 14/29 - 1
14-95579436-G-A c.2033C>T p.Ser678Phe Missense 14/29 - 2
14-95579437-A-C c.2032T>G p.Ser678Ala Missense 14/29 - 1
14-95579440-C-T c.2029G>A p.Ala677Thr Missense 14/29 - 1
14-95579443-G-A c.2026C>T p.Arg676* Nonsense 14/29 - 4
14-95579449-G-A c.2020C>T p.Pro674Ser Missense 14/29 - 1
14-95579451-G-A c.2018C>T p.Ser673Leu Missense 14/29 - 1
14-95579461-G-A c.2008C>T p.Pro670Ser Missense 14/29 - 1
14-95579464-G-A c.2005C>T p.Leu669Leu Synonymous 14/29 - 1
14-95579490-T-C c.1979A>G p.Asp660Gly Missense 14/29 - 1
14-95579503-G-A c.1966C>T p.Arg656* Nonsense 14/29 - 9
14-95579516-A-G c.1953T>C p.Pro651Pro Synonymous 14/29 - 1
14-95579523-A-G c.1946T>C p.Leu649Pro Missense 14/29 - 1
14-95579524-G-C c.1945C>G p.Leu649Val Missense 14/29 - 1
14-95579529-G-A c.1940C>T p.Thr647Ile Missense 14/29 - 1
14-95579534-C-T c.1935G>A p.Pro645Pro Synonymous 14/29 - 4
14-95579535-GG-TA c.1933_1934delinsTA p.Pro645* Nonsense 14/29 - 2
14-95579536-G-A c.1933C>T p.Pro645Ser Missense 14/29 - 1
14-95579536-G-C c.1933C>G p.Pro645Ala Missense 14/29 - 1
14-95579538-T-G c.1931A>C p.Asp644Ala Missense 14/29 - 1
14-95579556-CA-GC c.1912_1913delinsGC p.Cys638Ala Missense 14/29 - 1
14-95579559-T-TT c.1910dup p.Tyr637* SpliceAcceptorInsertion 14/29 - 4
14-95579565-T-A c.1908-4A>T - IntronicSNV - 13/28 2
14-95579565-T-C c.1908-4A>G - IntronicSNV - 13/28 2
14-95579638-G-A c.1908-77C>T - IntronicSNV - 13/28 1
14-95579638-G-C c.1908-77C>G - IntronicSNV - 13/28 1
14-95579992-A-G c.1908-431T>C - IntronicSNV - 13/28 1
14-95580386-T-A c.1908-825A>T - IntronicSNV - 13/28 1
14-95580386-T-C c.1908-825A>G - IntronicSNV - 13/28 1
14-95580470-A-C c.1908-909T>G - IntronicSNV - 13/28 1
14-95580470-A-G c.1908-909T>C - IntronicSNV - 13/28 1
14-95581496-C-T c.1907+508G>A - IntronicSNV - 13/28 1
14-95581537-T-C c.1907+467A>G - IntronicSNV - 13/28 1
14-95581664-G-A c.1907+340C>T - IntronicSNV - 13/28 1
14-95581899-G-A c.1907+105C>T - IntronicSNV - 13/28 2
14-95581961-G-A c.1907+43C>T - IntronicSNV - 13/28 7
14-95581998-C-T c.1907+6G>A - IntronicSNV - 13/28 1
14-95582007-T-C c.1904A>G p.Asn635Ser Missense 13/29 - 1
14-95582017-C-T c.1894G>A p.Gly632Arg Missense 13/29 - 1
14-95582024-C-A c.1887G>T p.Thr629Thr Synonymous 13/29 - 1
14-95582024-C-G c.1887G>C p.Thr629Thr Synonymous 13/29 - 1
14-95582024-C-T c.1887G>A p.Thr629Thr Synonymous 13/29 - 2
14-95582034-G-T c.1877C>A p.Thr626Lys Missense 13/29 - 1
14-95582038-C-T c.1873G>A p.Val625Ile Missense 13/29 - 1
14-95582041-G-A c.1870C>T p.Arg624* Nonsense 13/29 - 3
14-95582043-TGG-T c.1867_1868del p.Pro623Thrfs*13 Frameshift 13/29 - 1
14-95582044-G-A c.1867C>T p.Pro623Ser Missense 13/29 - 1
14-95582055-T-C c.1856A>G p.Asp619Gly Missense 13/29 - 1
14-95582057-A-C c.1854T>G p.Pro618Pro Synonymous 13/29 - 1
14-95582069-ATA-ATG c.1840delinsC p.Tyr614His Missense 13/29 - 1
14-95582072-T-C c.1839A>G p.Pro613Pro Synonymous 13/29 - 1
14-95582074-G-A c.1837C>T p.Pro613Ser Missense 13/29 - 2
14-95582082-AC-CG c.1828_1829delinsCG p.Val610Arg Missense 13/29 - 1
14-95582083-C-CCT c.1827_1828insAG p.Val610Argfs*8 Frameshift 13/29 - 1
14-95582084-G-A c.1827C>T p.Asp609Asp Synonymous 13/29 - 1
14-95582086-C-A c.1825G>T p.Asp609Tyr Missense 13/29 - 4
14-95582094-T-C c.1817A>G p.Asp606Gly Missense 13/29 - 1
14-95582104-G-GTCAAT c.1806_1807insATTGA p.Pro603Ilefs*16 Frameshift 13/29 - 1
14-95582110-T-C c.1801A>G p.Ile601Val Missense 13/29 - 1
14-95582111-G-A c.1800C>T p.Asp600Asp Synonymous 13/29 - 2
14-95582116-T-C c.1795A>G p.Thr599Ala Missense 13/29 - 1
14-95582125-T-TT c.1786dup p.Thr596Asnfs*3 Frameshift 13/29 - 2
14-95582126-A-C c.1785T>G p.Asp595Glu Missense 13/29 - 1
14-95582129-A-T c.1782T>A p.Val594Val Synonymous 13/29 - 1
14-95582132-C-T c.1779G>A p.Ser593Ser Synonymous 13/29 - 1
14-95582152-T-A c.1759A>T p.Arg587* Nonsense 13/29 - 1
14-95582153-C-T c.1758G>A p.Leu586Leu Synonymous 13/29 - 1
14-95582163-A-T c.1753-5T>A - IntronicSNV - 12/28 1
14-95582164-C-T c.1753-6G>A - IntronicSNV - 12/28 1
14-95582201-C-G c.1753-43G>C - IntronicSNV - 12/28 1
14-95582201-C-T c.1753-43G>A - IntronicSNV - 12/28 1
14-95582544-A-C c.1752+246T>G - IntronicSNV - 12/28 3
14-95582790-CC-C c.1752+1del - IntronicDeletion 12/29 - 1
14-95582797-A-G c.1745T>C p.Ile582Thr Missense 12/29 - 1
14-95582800-GC-CG c.1741_1742delinsCG p.Ala581Arg Missense 12/29 - 1
14-95582813-T-TT c.1732dup p.Thr578Asnfs*6 Frameshift 12/29 - 1
14-95582827-A-G c.1715T>C p.Phe572Ser Missense 12/29 - 1
14-95582829-AA-A c.1716del p.Phe572Leufs*15 Frameshift 12/29 - 1
14-95582833-TT-GC c.1708_1709delinsGC p.Lys570Ala Missense 12/29 - 1
14-95582835-TT-T c.1711del p.Ser571Valfs*16 Frameshift 12/29 - 1
14-95582844-T-A c.1698A>T p.Thr566Thr Synonymous 12/29 - 1
14-95582844-T-C c.1698A>G p.Thr566Thr Synonymous 12/29 - 1
14-95582844-T-G c.1698A>C p.Thr566Thr Synonymous 12/29 - 1
14-95582850-C-T c.1692G>A p.Ala564Ala Synonymous 12/29 - 1
14-95582851-G-A c.1691C>T p.Ala564Val Missense 12/29 - 1
14-95582851-G-C c.1691C>G p.Ala564Gly Missense 12/29 - 1
14-95582857-A-G c.1685T>C p.Met562Thr Missense 12/29 - 1
14-95582857-CAT-C c.1684_1685del p.Met562Valfs*11 Frameshift 12/29 - 1
14-95582861-T-A c.1681A>T p.Ile561Leu Missense 12/29 - 1
14-95582861-T-C c.1681A>G p.Ile561Val Missense 12/29 - 1
14-95582863-T-C c.1679A>G p.Tyr560Cys Missense 12/29 - 1
14-95582873-T-C c.1669A>G p.Ile557Val Missense 12/29 - 1
14-95582876-GG-G c.1668del p.Ile557Serfs*5 Frameshift 12/29 - 1
14-95582881-CT-TA c.1660_1661delinsTA p.Arg554* Nonsense 12/29 - 1
14-95582882-T-C c.1660A>G p.Arg554Gly Missense 12/29 - 2
14-95582888-T-A c.1654A>T p.Arg552* Nonsense 12/29 - 1
14-95582911-C-T c.1631G>A p.Arg544Gln Missense 12/29 - 1
14-95582912-G-A c.1630C>T p.Arg544* Nonsense 12/29 - 5
14-95582915-A-T c.1627T>A p.Tyr543Asn Missense 12/29 - 1
14-95582918-C-A c.1624G>T p.Glu542* Nonsense 12/29 - 1
14-95582924-G-A c.1618C>T p.Pro540Ser Missense 12/29 - 1
14-95582959-A-G c.1583T>C p.Ile528Thr Missense 12/29 - 4
14-95582981-T-A c.1561A>T p.Ile521Phe Missense 12/29 - 1
14-95582989-G-A c.1553C>T p.Ala518Val Missense 12/29 - 1
14-95582999-G-A c.1543C>T p.Leu515Leu Synonymous 12/29 - 1
14-95583002-T-A c.1540A>T p.Asn514Tyr Missense 12/29 - 1
14-95583006-C-T c.1536G>A p.Glu512Glu Synonymous 12/29 - 1
14-95583009-A-AA c.1533dup p.Glu512* Nonsense 12/29 - 1
14-95583017-G-A c.1525C>T p.Arg509* Nonsense 12/29 - 15
14-95583024-C-T c.1518G>A p.Arg506Arg Synonymous 12/29 - 1
14-95583029-G-A c.1513C>T p.Leu505Phe Missense 12/29 - 2
14-95583032-C-T c.1510G>A p.Val504Ile Missense 12/29 - 1
14-95583927-T-C c.1509+32A>G - IntronicSNV - 11/28 1
14-95583961-C-A c.1507G>T p.Glu503* Nonsense 11/29 - 7
14-95583961-C-G c.1507G>C p.Glu503Gln Missense 11/29 - 1
14-95583966-T-C c.1502A>G p.Gln501Arg Missense 11/29 - 1
14-95583970-T-A c.1498A>T p.Lys500* Nonsense 11/29 - 1
14-95583971-T-G c.1497A>C p.Arg499Ser Missense 11/29 - 1
14-95583972-C-G c.1496G>C p.Arg499Thr Missense 11/29 - 3
14-95583979-C-A c.1489G>T p.Glu497* Nonsense 11/29 - 1
14-95583982-C-T c.1486G>A p.Ala496Thr Missense 11/29 - 1
14-95583986-C-T c.1482G>A p.Met494Ile Missense 11/29 - 1
14-95583987-A-C c.1481T>G p.Met494Arg Missense 11/29 - 1
14-95583992-T-C c.1476A>G p.Lys492Lys Synonymous 11/29 - 1
14-95583999-C-T c.1469G>A p.Arg490His Missense 11/29 - 1
14-95584000-G-A c.1468C>T p.Arg490Cys Missense 11/29 - 2
14-95584002-G-A c.1466C>T p.Pro489Leu Missense 11/29 - 1
14-95584003-G-A c.1465C>T p.Pro489Ser Missense 11/29 - 1
14-95584006-G-T c.1462C>A p.Gln488Lys Missense 11/29 - 1
14-95584019-G-A c.1449C>T p.Gly483Gly Synonymous 11/29 - 1
14-95584027-C-A c.1441G>T p.Gly481* Nonsense 11/29 - 1
14-95584038-T-C c.1430A>G p.Asn477Ser Missense 11/29 - 1
14-95584045-T-A c.1423A>T p.Ser475Cys Missense 11/29 - 1
14-95584046-TGAT-T c.1421_1423del p.Ile474del InFrameDeletion 11/29 - 1
14-95584048-T-C c.1420A>G p.Ile474Val Missense 11/29 - 1
14-95584049-TA-T c.1419del p.Tyr473* Frameshift 11/29 - 1
14-95584060-C-A c.1408G>T p.Glu470* Nonsense 11/29 - 3
14-95584065-T-C c.1403A>G p.Asp468Gly Missense 11/29 - 1
14-95584068-T-C c.1400A>G p.Gln467Arg Missense 11/29 - 1
14-95584069-G-A c.1399C>T p.Gln467* Nonsense 11/29 - 1
14-95584071-T-A c.1397A>T p.Lys466Ile Missense 11/29 - 1
14-95584078-C-T c.1390G>A p.Ala464Thr Missense 11/29 - 1
14-95584085-T-C c.1383A>G p.Ile461Met Missense 11/29 - 1
14-95584086-AT-GC c.1381_1382delinsGC p.Ile461Ala Missense 11/29 - 1
14-95584087-T-A c.1381A>T p.Ile461Leu Missense 11/29 - 1
14-95584087-T-C c.1381A>G p.Ile461Val Missense 11/29 - 2
14-95584095-A-C c.1377-4T>G - IntronicSNV - 10/28 4
14-95585553-T-A c.1377-1462A>T - IntronicSNV - 10/28 1
14-95585553-T-C c.1377-1462A>G - IntronicSNV - 10/28 1
14-95586010-G-T c.1377-1919C>A - IntronicSNV - 10/28 1
14-95586136-T-C c.1377-2045A>G - IntronicSNV - 10/28 3
14-95590525-A-T c.1376+8T>A - IntronicSNV - 10/28 1
14-95590527-A-G c.1376+6T>C - IntronicSNV - 10/28 1
14-95590532-C-A c.1376+1G>T - IntronicSNV - 10/28 3
14-95590532-C-T c.1376+1G>A - IntronicSNV - 10/28 3
14-95590543-C-A c.1366G>T p.Val456Phe Missense 10/29 - 1
14-95590548-G-C c.1361C>G p.Ala454Gly Missense 10/29 - 1
14-95590548-GC-CT c.1360_1361delinsAG p.Ala454Arg Missense 10/29 - 1
14-95590549-C-T c.1360G>A p.Ala454Thr Missense 10/29 - 2
14-95590552-T-A c.1357A>T p.Thr453Ser Missense 10/29 - 1
14-95590553-TGT-T c.1358_1359del p.Thr453Serfs*23 Frameshift 10/29 - 1
14-95590560-C-A c.1349G>T p.Arg450Ile Missense 10/29 - 1
14-95590560-CT-GC c.1348_1349delinsGC p.Arg450Ala Missense 10/29 - 1
14-95590573-AT-A c.1336del p.Ile446Phefs*12 Frameshift 10/29 - 1
14-95590579-C-A c.1330G>T p.Gly444* Nonsense 10/29 - 1
14-95590584-A-AT c.1324_1325insA p.Leu442Tyrfs*35 Frameshift 10/29 - 1
14-95590588-T-A c.1321A>T p.Ile441Phe Missense 10/29 - 1
14-95590592-G-C c.1317C>G p.Thr439Thr Synonymous 10/29 - 1
14-95590592-G-T c.1317C>A p.Thr439Thr Synonymous 10/29 - 1
14-95590599-G-A c.1310C>T p.Pro437Leu Missense 10/29 - 1
14-95590599-G-T c.1310C>A p.Pro437His Missense 10/29 - 1
14-95590604-A-AA c.1306dup p.Ser436Phefs*41 Frameshift 10/29 - 1
14-95590605-G-A c.1304C>T p.Pro435Leu Missense 10/29 - 2
14-95590616-C-T c.1293G>A p.Glu431Glu Synonymous 10/29 - 1
14-95590627-TCT-T c.1284_1285del p.Lys429Alafs*47 Frameshift 10/29 - 2
14-95590648-C-T c.1261G>A p.Asp421Asn Missense 10/29 - 1
14-95590651-C-T c.1258G>A p.Glu420Lys Missense 10/29 - 1
14-95590660-C-T c.1249G>A p.Asp417Asn Missense 10/29 - 1
14-95590668-T-C c.1241A>G p.Asp414Gly Missense 10/29 - 1
14-95590676-T-C c.1233A>G p.Ser411Ser Synonymous 10/29 - 1
14-95590677-G-A c.1232C>T p.Ser411Leu Missense 10/29 - 1
14-95590677-G-T c.1232C>A p.Ser411* Nonsense 10/29 - 2
14-95590683-T-C c.1226A>G p.Tyr409Cys Missense 10/29 - 1
14-95590689-T-C c.1220A>G p.Asp407Gly Missense 10/29 - 1
14-95590691-CTG-TGT c.1216_1218delinsACA p.Gln406Thr Missense 10/29 - 1
14-95590695-T-C c.1214A>G p.Asn405Ser Missense 10/29 - 1
14-95590696-T-G c.1213A>C p.Asn405His Missense 10/29 - 1
14-95590698-C-A c.1211G>T p.Arg404Ile Missense 10/29 - 1
14-95590698-C-T c.1211G>A p.Arg404Lys Missense 10/29 - 1
14-95590706-A-C c.1203T>G p.Tyr401* Nonsense 10/29 - 1
14-95590709-C-T c.1200G>A p.Trp400* Nonsense 10/29 - 2
14-95590725-A-G c.1184T>C p.Phe395Ser Missense 10/29 - 1
14-95590732-G-A c.1177C>T p.Gln393* Nonsense 10/29 - 1
14-95590734-C-T c.1175G>A p.Arg392Gln Missense 10/29 - 2
14-95590735-G-A c.1174C>T p.Arg392* Nonsense 10/29 - 1
14-95590740-T-A c.1169A>T p.Tyr390Phe Missense 10/29 - 1
14-95590740-T-C c.1169A>G p.Tyr390Cys Missense 10/29 - 1
14-95590756-CG-C c.1153del p.Arg385Alafs*73 Frameshift 10/29 - 1
14-95590766-G-A c.1143C>T p.Leu381Leu Synonymous 10/29 - 1
14-95590766-G-C c.1143C>G p.Leu381Leu Synonymous 10/29 - 1
14-95590771-G-A c.1138C>T p.Leu380Leu Synonymous 10/29 - 1
14-95590771-G-C c.1138C>G p.Leu380Val Missense 10/29 - 1
14-95590773-T-C c.1136A>G p.Lys379Arg Missense 10/29 - 1
14-95590776-AT-GC c.1132_1133delinsGC p.Ile378Ala Missense 10/29 - 1
14-95590780-ACTTTA-A c.1128_1132del p.Lys376Asnfs*11 Frameshift 10/29 - 3
14-95590780-C-T c.1129G>A p.Val377Ile Missense 10/29 - 1
14-95590783-T-C c.1126A>G p.Lys376Glu Missense 10/29 - 1
14-95590784-A-AA c.1125dup p.Lys376* Nonsense 10/29 - 1
14-95590785-G-C c.1124C>G p.Pro375Arg Missense 10/29 - 3
14-95590786-G-A c.1123C>T p.Pro375Ser Missense 10/29 - 1
14-95590788-G-A c.1121C>T p.Thr374Ile Missense 10/29 - 1
14-95590792-C-G c.1117G>C p.Val373Leu Missense 10/29 - 1
14-95590797-TT-GC c.1111_1112delinsGC p.Lys371Ala Missense 10/29 - 1
14-95590798-T-TA c.1110_1111insT p.Lys371* Nonsense 10/29 - 1
14-95590798-T-TTATTAT c.1111_1112insTAATAA p.Leu370_Lys371insIleIle InFrameInsertion 10/29 - 1
14-95590800-A-G c.1109T>C p.Leu370Pro Missense 10/29 - 1
14-95590815-G-A c.1094C>T p.Pro365Leu Missense 10/29 - 1
14-95590816-G-T c.1093C>A p.Pro365Thr Missense 10/29 - 1
14-95590818-G-A c.1091C>T p.Ser364Leu Missense 10/29 - 1
14-95590818-G-C c.1091C>G p.Ser364* Nonsense 10/29 - 1
14-95590820-GA-AA c.1089delinsT p.Phe363Phe Nonsense 10/29 - 1
14-95590830-T-G c.1079A>C p.Glu360Ala Missense 10/29 - 1
14-95590831-C-G c.1078G>C p.Glu360Gln Missense 10/29 - 1
14-95590837-G-A c.1072C>T p.Leu358Leu Synonymous 10/29 - 1
14-95590840-C-T c.1069G>A p.Ala357Thr Missense 10/29 - 2
14-95590845-A-T c.1064T>A p.Ile355Lys Missense 10/29 - 1
14-95590850-CCT-CAT c.1058delinsT p.Arg353Met Missense 10/29 - 1
14-95590884-CT-TA c.1024_1025delinsTA p.Arg342* Nonsense 10/29 - 1
14-95590886-TG-T c.1023del p.His341Glnfs*12 Frameshift 10/29 - 1
14-95590891-G-A c.1018C>T p.Leu340Leu Synonymous 10/29 - 1
14-95590896-T-C c.1013A>G p.Glu338Gly Missense 10/29 - 1
14-95590896-T-G c.1013A>C p.Glu338Ala Missense 10/29 - 2
14-95590903-C-A c.1006G>T p.Glu336* Nonsense 10/29 - 1
14-95590904-A-C c.1005T>G p.His335Gln Missense 10/29 - 1
14-95590904-A-T c.1005T>A p.His335Gln Missense 10/29 - 1
14-95590906-G-A c.1003C>T p.His335Tyr Missense 10/29 - 1
14-95590911-A-G c.998T>C p.Ile333Thr Missense 10/29 - 1
14-95590921-G-A c.988C>T p.Gln330* Nonsense 10/29 - 1
14-95590921-G-T c.988C>A p.Gln330Lys Missense 10/29 - 1
14-95590924-G-A c.985C>T p.Leu329Leu Synonymous 10/29 - 1
14-95590928-T-A c.981A>T p.Arg327Ser Missense 10/29 - 1
14-95590928-T-G c.981A>C p.Arg327Ser Missense 10/29 - 1
14-95590929-C-T c.980G>A p.Arg327Lys Missense 10/29 - 1
14-95590929-CT-GC c.979_980delinsGC p.Arg327Ala Missense 10/29 - 1
14-95590935-A-C c.974T>G p.Met325Arg Missense 10/29 - 1
14-95590942-C-A c.967G>T p.Gly323* Nonsense 10/29 - 1
14-95590944-G-C c.965C>G p.Ala322Gly Missense 10/29 - 1
14-95590951-T-A c.958A>T p.Lys320* Nonsense 10/29 - 1
14-95590962-CA-GC c.946_947delinsGC p.Trp316Ala Missense 10/29 - 1
14-95590962-C-G c.947G>C p.Trp316Ser Missense 10/29 - 1
14-95590971-AG-TA c.937_938delinsTA p.Leu313* Nonsense 10/29 - 1
14-95590971-A-T c.938T>A p.Leu313Gln Missense 10/29 - 1
14-95590972-G-A c.937C>T p.Leu313Leu Synonymous 10/29 - 1
14-95590985-G-A c.924C>T p.Ala308Ala Synonymous 10/29 - 1
14-95590986-GC-CT c.922_923delinsAG p.Ala308Ser Missense 10/29 - 1
14-95590989-C-T c.920G>A p.Arg307His Missense 10/29 - 1
14-95590990-G-A c.919C>T p.Arg307Cys Missense 10/29 - 1
14-95590991-A-C c.918T>G p.Cys306Trp Missense 10/29 - 1
14-95590992-CA-GC c.916_917delinsGC p.Cys306Ala Missense 10/29 - 1
14-95590992-C-T c.917G>A p.Cys306Tyr Missense 10/29 - 1
14-95590998-G-T c.911C>A p.Ser304* Nonsense 10/29 - 1
14-95591006-C-G c.904-1G>C - IntronicSNV - 9/28 1
14-95591070-G-A c.904-65C>T - IntronicSNV - 9/28 1
14-95591629-C-T c.904-624G>A - IntronicSNV - 9/28 1
14-95592100-G-A c.903+817C>T - IntronicSNV - 9/28 1
14-95592185-A-G c.903+732T>C - IntronicSNV - 9/28 1
14-95592923-C-G c.897G>C p.Ser299Ser Synonymous 9/29 - 1
14-95592923-C-T c.897G>A p.Ser299Ser Synonymous 9/29 - 1
14-95592933-G-A c.887C>T p.Thr296Ile Missense 9/29 - 1
14-95592936-G-A c.884C>T p.Ser295Phe Missense 9/29 - 1
14-95592936-G-C c.884C>G p.Ser295Cys Missense 9/29 - 2
14-95592939-T-A c.881A>T p.Asp294Val Missense 9/29 - 1
14-95592939-T-G c.881A>C p.Asp294Ala Missense 9/29 - 1
14-95592941-TCT-CAT c.878_879delinsTG p.Arg293Met Missense 9/29 - 1
14-95592942-C-A c.878G>T p.Arg293Ile Missense 9/29 - 1
14-95592943-T-A c.877A>T p.Arg293* Nonsense 9/29 - 1
14-95592946-C-T c.874G>A p.Glu292Lys Missense 9/29 - 1
14-95592969-C-T c.851G>A p.Cys284Tyr Missense 9/29 - 1
14-95592999-AA-GG c.820_821delinsCC p.Leu274Pro Missense 9/29 - 1
14-95593002-T-G c.818A>C p.Glu273Ala Missense 9/29 - 1
14-95593013-TCT-TGG c.805_806delinsCC p.Arg269Pro Missense 9/29 - 1
14-95593018-C-T c.802G>A p.Glu268Lys Missense 9/29 - 1
14-95593024-G-A c.796C>T p.Leu266Phe Missense 9/29 - 1
14-95593026-CC-TA c.793_794delinsTA p.Gly265* Nonsense 9/29 - 1
14-95593030-T-A c.790A>T p.Ser264Cys Missense 9/29 - 1
14-95593033-T-A c.787A>T p.Arg263* Nonsense 9/29 - 1
14-95593038-G-A c.782C>T p.Thr261Ile Missense 9/29 - 1
14-95593038-GT-GA c.781delinsT p.Thr261Ser Missense 9/29 - 1
14-95593044-G-A c.776C>T p.Pro259Leu Missense 9/29 - 2
14-95593044-G-T c.776C>A p.Pro259Gln Missense 9/29 - 1
14-95593045-G-A c.775C>T p.Pro259Ser Missense 9/29 - 2
14-95593047-C-A c.773G>T p.Gly258Val Missense 9/29 - 1
14-95593047-C-G c.773G>C p.Gly258Ala Missense 9/29 - 1
14-95593048-C-G c.772G>C p.Gly258Arg Missense 9/29 - 1
14-95593048-C-T c.772G>A p.Gly258Arg Missense 9/29 - 1
14-95593049-A-T c.771T>A p.Cys257* Nonsense 9/29 - 2
14-95593067-A-T c.753T>A p.Cys251* Nonsense 9/29 - 1
14-95593073-C-T c.747G>A p.Gln249Gln Synonymous 9/29 - 1
14-95593075-G-A c.745C>T p.Gln249* Nonsense 9/29 - 1
14-95593075-TG-T c.745del p.Gln249Serfs*23 Frameshift 9/29 - 1
14-95593077-G-C c.743C>G p.Ser248Cys Missense 9/29 - 1
14-95593081-T-C c.739A>G p.Thr247Ala Missense 9/29 - 1
14-95593085-C-A c.735G>T p.Arg245Ser Missense 9/29 - 1
14-95593085-C-G c.735G>C p.Arg245Ser Missense 9/29 - 1
14-95593093-A-C c.735-8T>G - IntronicSNV - 8/28 1
14-95593957-G-C c.735-872C>G - IntronicSNV - 8/28 2
14-95594207-T-C c.735-1122A>G - IntronicSNV - 8/28 4
14-95595803-G-A c.734+6C>T - IntronicSNV - 8/28 1
14-95595806-T-C c.734+3A>G - IntronicSNV - 8/28 1
14-95595817-G-A c.726C>T p.Val242Val Synonymous 8/29 - 1
14-95595829-AG-TG c.714delinsA p.Thr238Thr Missense 8/29 - 1
14-95595836-G-A c.707C>T p.Thr236Ile Missense 8/29 - 1
14-95595847-A-G c.696T>C p.Ser232Ser Synonymous 8/29 - 1
14-95595855-G-A c.688C>T p.Leu230Phe Missense 8/29 - 1
14-95595863-T-A c.680A>T p.Glu227Val Missense 8/29 - 1
14-95595870-T-C c.673A>G p.Lys225Glu Missense 8/29 - 1
14-95595878-T-C c.665A>G p.Lys222Arg Missense 8/29 - 1
14-95595897-G-A c.646C>T p.Pro216Ser Missense 8/29 - 1
14-95595899-T-G c.644A>C p.Asp215Ala Missense 8/29 - 4
14-95595900-C-T c.643G>A p.Asp215Asn Missense 8/29 - 1
14-95595902-C-T c.641G>A p.Cys214Tyr Missense 8/29 - 1
14-95595904-T-C c.639A>G p.Lys213Lys Synonymous 8/29 - 1
14-95595924-C-T c.619G>A p.Ala207Thr Missense 8/29 - 1
14-95595931-TCC-AGC c.611_612delinsCT p.Gly204Ala Missense 8/29 - 1
14-95595933-C-G c.610G>C p.Gly204Arg Missense 8/29 - 1
14-95595933-C-T c.610G>A p.Gly204Arg Missense 8/29 - 1
14-95595936-A-C c.607T>G p.Leu203Val Missense 8/29 - 1
14-95595941-CG-GC c.601_602delinsGC p.Arg201Ala Missense 8/29 - 1
14-95595941-C-T c.602G>A p.Arg201His Missense 8/29 - 2
14-95595947-C-T c.596G>A p.Cys199Tyr Missense 8/29 - 1
14-95595950-G-A c.593C>T p.Ser198Leu Missense 8/29 - 1
14-95595954-G-A c.589C>T p.Pro197Ser Missense 8/29 - 1
14-95595954-G-C c.589C>G p.Pro197Ala Missense 8/29 - 1
14-95595956-C-A c.587G>T p.Cys196Phe Missense 8/29 - 1
14-95595962-T-G c.581A>C p.Glu194Ala Missense 8/29 - 1
14-95595969-G-A c.574C>T p.Leu192Phe Missense 8/29 - 1
14-95595974-C-A c.574-5G>T - IntronicSNV - 7/28 1
14-95595974-C-T c.574-5G>A - IntronicSNV - 7/28 1
14-95596281-A-T c.573+114T>A - IntronicSNV - 7/28 1
14-95596299-G-T c.573+96C>A - IntronicSNV - 7/28 1
14-95596394-C-T c.573+1G>A - IntronicSNV - 7/28 1
14-95596395-C-T c.573G>A p.Lys191Lys Synonymous 7/29 - 1
14-95596397-T-A c.571A>T p.Lys191* Nonsense 7/29 - 1
14-95596407-TCG-TGG c.560delinsC p.Arg187Pro Missense 7/29 - 1
14-95596407-TCG-TGT c.559_560delinsAC p.Arg187Thr Missense 7/29 - 1
14-95596409-G-A c.559C>T p.Arg187* Nonsense 7/29 - 3
14-95596410-A-C c.558T>G p.Tyr186* Nonsense 7/29 - 1
14-95596410-A-T c.558T>A p.Tyr186* Nonsense 7/29 - 1
14-95596415-G-A c.553C>T p.Pro185Ser Missense 7/29 - 1
14-95596416-G-A c.552C>T p.His184His Synonymous 7/29 - 1
14-95596429-G-A c.539C>T p.Ala180Val Missense 7/29 - 1
14-95596429-G-C c.539C>G p.Ala180Gly Missense 7/29 - 1
14-95596430-C-T c.538G>A p.Ala180Thr Missense 7/29 - 1
14-95596435-T-A c.533A>T p.His178Leu Missense 7/29 - 1
14-95596435-T-C c.533A>G p.His178Arg Missense 7/29 - 1
14-95596436-G-A c.532C>T p.His178Tyr Missense 7/29 - 1
14-95596437-A-T c.531T>A p.Cys177* Nonsense 7/29 - 1
14-95596449-CAC-ATC c.518_519delinsAT p.Val173Asp Missense 7/29 - 1
14-95596475-A-C c.493T>G p.Ser165Ala Missense 7/29 - 1
14-95596481-A-C c.487T>G p.Tyr163Asp Missense 7/29 - 1
14-95596483-C-T c.485G>A p.Gly162Asp Missense 7/29 - 2
14-95596484-C-A c.484G>T p.Gly162Cys Missense 7/29 - 1
14-95596487-T-C c.481A>G p.Asn161Asp Missense 7/29 - 1
14-95596487-T-G c.481A>C p.Asn161His Missense 7/29 - 1
14-95596498-TT-GC c.469_470delinsGC p.Asn157Ala Missense 7/29 - 1
14-95596513-CA-GC c.454_455delinsGC p.Cys152Ala Missense 7/29 - 1
14-95596516-G-C c.452C>G p.Thr151Ser Missense 7/29 - 1
14-95596522-A-G c.446T>C p.Ile149Thr Missense 7/29 - 1
14-95596526-AGA-A c.443_444del p.Leu148Hisfs*22 Frameshift 7/29 - 1
14-95596529-C-A c.439G>T p.Val147Phe Missense 7/29 - 1
14-95596530-C-G c.439-1G>C - IntronicSNV - 6/28 1
14-95596536-T-A c.439-7A>T - IntronicSNV - 6/28 1
14-95596619-A-C c.439-90T>G - IntronicSNV - 6/28 1
14-95596663-A-G c.439-134T>C - IntronicSNV - 6/28 1
14-95597828-T-C c.438+18A>G - IntronicSNV - 6/28 1
14-95597845-C-A c.438+1G>T - IntronicSNV - 6/28 1
14-95597848-G-A c.436C>T p.Gln146* Nonsense 6/29 - 1
14-95597850-T-C c.434A>G p.His145Arg Missense 6/29 - 1
14-95597852-C-G c.432G>C p.Lys144Asn Missense 6/29 - 2
14-95597852-C-T c.432G>A p.Lys144Lys Synonymous 6/29 - 2
14-95597853-TT-GC c.430_431delinsGC p.Lys144Ala Missense 6/29 - 1
14-95597863-C-A c.421G>T p.Glu141* Nonsense 6/29 - 1
14-95597863-C-T c.421G>A p.Glu141Lys Missense 6/29 - 1
14-95597871-C-T c.413G>A p.Trp138* Nonsense 6/29 - 1
14-95597873-TC-AC c.411delinsT p.Arg137Ser Missense 6/29 - 1
14-95597880-TT-GG c.403_404delinsCC p.Lys135Pro Missense 6/29 - 1
14-95597883-G-A c.401C>T p.Thr134Ile Missense 6/29 - 1
14-95597885-C-T c.399G>A p.Trp133* Nonsense 6/29 - 1
14-95597886-C-T c.398G>A p.Trp133* Nonsense 6/29 - 1
14-95597889-G-A c.395C>T p.Ser132Phe Missense 6/29 - 1
14-95597893-C-T c.391G>A p.Ala131Thr Missense 6/29 - 1
14-95597905-G-C c.379C>G p.Leu127Val Missense 6/29 - 1
14-95597908-T-A c.376A>T p.Asn126Tyr Missense 6/29 - 1
14-95597908-T-C c.376A>G p.Asn126Asp Missense 6/29 - 2
14-95597910-G-A c.374C>T p.Ser125Leu Missense 6/29 - 1
14-95597918-C-T c.366G>A p.Gly122Gly Synonymous 6/29 - 1
14-95597930-A-G c.354T>C p.Asp118Asp Synonymous 6/29 - 1
14-95597932-C-A c.352G>T p.Asp118Tyr Missense 6/29 - 1
14-95597932-C-T c.352G>A p.Asp118Asn Missense 6/29 - 1
14-95597935-A-T c.349T>A p.Ser117Thr Missense 6/29 - 1
14-95597937-T-C c.347A>G p.His116Arg Missense 6/29 - 1
14-95597942-T-C c.342A>G p.Arg114Arg Synonymous 6/29 - 1
14-95597947-C-T c.337G>A p.Val113Ile Missense 6/29 - 1
14-95597959-G-A c.325C>T p.Gln109* Nonsense 6/29 - 4
14-95597971-G-A c.313C>T p.Gln105* Nonsense 6/29 - 1
14-95597973-T-C c.311A>G p.Asn104Ser Missense 6/29 - 1
14-95597975-T-A c.309A>T p.Ala103Ala Synonymous 6/29 - 1
14-95597975-T-C c.309A>G p.Ala103Ala Synonymous 6/29 - 1
14-95597975-T-G c.309A>C p.Ala103Ala Synonymous 6/29 - 1
14-95598771-T-G c.307+81A>C - IntronicSNV - 5/28 1
14-95598854-G-T c.305C>A p.Ser102Tyr Missense 5/29 - 1
14-95598874-CCT-TGT c.284_285delinsCA p.Arg95Thr Missense 5/29 - 1
14-95598875-CT-CA c.283delinsT p.Arg95Trp Missense 5/29 - 1
14-95598875-CT-TA c.283_284delinsTA p.Arg95* Nonsense 5/29 - 1
14-95598878-T-C c.281A>G p.Lys94Arg Missense 5/29 - 1
14-95598878-TT-GC c.280_281delinsGC p.Lys94Ala Missense 5/29 - 1
14-95598879-T-C c.280A>G p.Lys94Glu Missense 5/29 - 1
14-95598879-TT-TTTT c.282_283dup p.Arg95Lysfs*34 Frameshift 5/29 - 1
14-95598881-C-G c.278G>C p.Gly93Ala Missense 5/29 - 38
14-95598881-C-T c.278G>A p.Gly93Glu Missense 5/29 - 1
14-95598883-A-G c.276T>C p.Asn92Asn Synonymous 5/29 - 1
14-95598886-TCT-TGG c.271_272delinsCC p.Arg91Pro Missense 5/29 - 1
14-95598887-C-T c.272G>A p.Arg91Lys Missense 5/29 - 1
14-95598888-T-C c.271A>G p.Arg91Gly Missense 5/29 - 1
14-95598890-C-T c.269G>A p.Ser90Asn Missense 5/29 - 1
14-95598899-C-T c.260G>A p.Gly87Glu Missense 5/29 - 1
14-95598904-G-C c.255C>G p.Ile85Met Missense 5/29 - 5
14-95598911-T-C c.248A>G p.Tyr83Cys Missense 5/29 - 1
14-95598914-G-A c.245C>T p.Ser82Phe Missense 5/29 - 1
14-95598914-GA-CT c.244_245delinsAG p.Ser82Ser Missense 5/29 - 1
14-95598914-G-T c.245C>A p.Ser82Tyr Missense 5/29 - 1
14-95598915-A-C c.244T>G p.Ser82Ala Missense 5/29 - 1
14-95598937-T-A c.222A>T p.Ala74Ala Synonymous 5/29 - 2
14-95598937-TG-AC c.221_222delinsGT p.Ala74Gly Missense 5/29 - 1
14-95598938-G-A c.221C>T p.Ala74Val Missense 5/29 - 1
14-95598939-C-A c.220G>T p.Ala74Ser Missense 5/29 - 1
14-95598944-A-C c.215T>G p.Phe72Cys Missense 5/29 - 2
14-95598947-G-C c.212C>G p.Thr71Arg Missense 5/29 - 2
14-95598950-TT-GC c.208_209delinsGC p.Lys70Ala Missense 5/29 - 4
14-95598952-C-T c.207G>A p.Gly69Gly Synonymous 5/29 - 1
14-95598962-G-A c.197C>T p.Thr66Ile Missense 5/29 - 1
14-95598975-C-T c.184G>A p.Val62Ile Missense 5/29 - 2
14-95598978-T-C c.181A>G p.Ile61Val Missense 5/29 - 1
14-95598987-G-A c.172C>T p.His58Tyr Missense 5/29 - 1
14-95598990-C-G c.169G>C p.Asp57His Missense 5/29 - 1
14-95598992-AG-GC c.166_167delinsGC p.Leu56Ala Missense 5/29 - 1
14-95598995-GC-TG c.163_164delinsCA p.Ala55His Missense 5/29 - 2
14-95599009-TTC-TTT c.148delinsA p.Glu50Lys Missense 5/29 - 1
14-95599010-T-G c.149A>C p.Glu50Ala Missense 5/29 - 1
14-95599654-G-A c.142C>T p.Gln48* Nonsense 4/29 - 1
14-95599654-G-C c.142C>G p.Gln48Glu Missense 4/29 - 3
14-95599655-A-C c.141T>G p.Tyr47* Nonsense 4/29 - 1
14-95599655-A-T c.141T>A p.Tyr47* Nonsense 4/29 - 1
14-95599661-TCT-TGG c.133_134delinsCC p.Arg45Pro Missense 4/29 - 1
14-95599664-T-G c.132A>C p.Pro44Pro Synonymous 4/29 - 1
14-95599668-G-A c.128C>T p.Thr43Met Missense 4/29 - 2
14-95599668-G-C c.128C>G p.Thr43Arg Missense 4/29 - 2
14-95599671-TA-GC c.124_125delinsGC p.Tyr42Ala Missense 4/29 - 1
14-95599674-A-G c.122T>C p.Ile41Thr Missense 4/29 - 1
14-95599674-A-T c.122T>A p.Ile41Asn Missense 4/29 - 1
14-95599688-TGC-TGT c.106delinsA p.Ala36Thr Missense 4/29 - 1
14-95599690-C-T c.106G>A p.Ala36Thr Missense 4/29 - 1
14-95599691-T-A c.105A>T p.Glu35Asp Missense 4/29 - 1
14-95599691-T-G c.105A>C p.Glu35Asp Missense 4/29 - 1
14-95599696-G-A c.100C>T p.Gln34* Nonsense 4/29 - 1
14-95599700-C-T c.96G>A p.Trp32* Nonsense 4/29 - 1
14-95599704-G-C c.92C>G p.Pro31Arg Missense 4/29 - 1
14-95599707-AG-GA c.88_89delinsTC p.Leu30Ser Missense 4/29 - 1
14-95599711-C-A c.85G>T p.Gly29* Nonsense 4/29 - 1
14-95599711-C-G c.85G>C p.Gly29Arg Missense 4/29 - 1
14-95599713-A-C c.83T>G p.Phe28Cys Missense 4/29 - 2
14-95599713-A-G c.83T>C p.Phe28Ser Missense 4/29 - 2
14-95599714-A-AA c.84dup p.Gly29Trpfs*11 Frameshift 4/29 - 1
14-95599719-G-A c.77C>T p.Pro26Leu Missense 4/29 - 2
14-95599720-G-C c.76C>G p.Pro26Ala Missense 4/29 - 1
14-95599721-ACC-AAG c.73_74delinsCT p.Gly25Leu Missense 4/29 - 2
14-95599722-CC-TT c.73_74delinsAA p.Gly25Asn Missense 4/29 - 1
14-95599722-C-G c.74G>C p.Gly25Ala Missense 4/29 - 1
14-95599723-C-A c.73G>T p.Gly25Cys Missense 4/29 - 2
14-95599725-AT-GC c.70_71delinsGC p.Met24Ala Missense 4/29 - 2
14-95599727-TG-AT c.68_69delinsAT p.Pro23His Missense 4/29 - 3
14-95599727-TGG-GAC c.67_69delinsGTC p.Pro23Val Missense 4/29 - 1
14-95599729-G-A c.67C>T p.Pro23Ser Missense 4/29 - 1
14-95599730-TGA-GAC c.64_66delinsGTC p.Ser22Val Missense 4/29 - 1
14-95599730-TG-GT c.65_66delinsAC p.Ser22Tyr Missense 4/29 - 1
14-95599732-A-C c.64T>G p.Ser22Ala Missense 4/29 - 3
14-95599737-AG-A c.59del p.Ala20Valfs*45 Frameshift 4/29 - 1
14-95599737-G-A c.59C>T p.Ala20Val Missense 4/29 - 3
14-95599739-AGG-ATG c.56delinsA p.Pro19His Missense 4/29 - 3
14-95599739-AGG-TAA c.55_57delinsTTA p.Pro19Leu Nonsense 4/29 - 1
14-95599740-GG-AA c.55_56delinsTT p.Pro19Phe Missense 4/29 - 1
14-95599740-GG-GA c.55delinsT p.Pro19Ser Missense 4/29 - 1
14-95599740-GG-TG c.56delinsA p.Pro19His Missense 4/29 - 1
14-95599740-G-T c.56C>A p.Pro19His Missense 4/29 - 1
14-95599741-G-A c.55C>T p.Pro19Ser Missense 4/29 - 3
14-95599741-G-C c.55C>G p.Pro19Ala Missense 4/29 - 1
14-95599743-G-C c.53C>G p.Thr18Ser Missense 4/29 - 1
14-95599744-T-A c.52A>T p.Thr18Ser Missense 4/29 - 1
14-95599745-CAT-GAC c.49_51delinsGTC p.Met17Val Missense 4/29 - 2
14-95599746-AT-GC c.49_50delinsGC p.Met17Ala Missense 4/29 - 1
14-95599748-GAG-TAA c.46_48delinsTTA p.Leu16Leu Nonsense 4/29 - 1
14-95599754-C-CCCGCC c.42_43insGCGGG p.Gln15Alafs*5 Frameshift 4/29 - 1
14-95599755-AG-GA c.40_41delinsTC p.Leu14Ser Missense 4/29 - 1
14-95599758-C-G c.38G>C p.Gly13Ala Missense 4/29 - 2
14-95599758-C-T c.38G>A p.Gly13Asp Missense 4/29 - 1
14-95599759-C-G c.37G>C p.Gly13Arg Missense 4/29 - 1
14-95599766-GCT-GAG c.28_29delinsCT p.Ser10Leu Missense 4/29 - 5
14-95599766-GCT-TGA c.28_30delinsTCA p.Ser10Ser Nonsense 4/29 - 1
14-95599767-CT-CA c.28delinsT p.Ser10Cys Missense 4/29 - 1
14-95599767-CT-GA c.28_29delinsTC p.Ser10Ser Missense 4/29 - 11
14-95599767-CT-GC c.28_29delinsGC p.Ser10Ala Missense 4/29 - 45
14-95599768-T-A c.28A>T p.Ser10Cys Missense 4/29 - 14
14-95599773-G-C c.23C>G p.Pro8Arg Missense 4/29 - 1
14-95599774-G-T c.22C>A p.Pro8Thr Missense 4/29 - 1
14-95599776-T-C c.20A>G p.Gln7Arg Missense 4/29 - 4
14-95599777-G-A c.19C>T p.Gln7* Nonsense 4/29 - 1
14-95599786-G-A c.10C>T p.Pro4Ser Missense 4/29 - 1
14-95599790-T-C c.6A>G p.Lys2Lys Synonymous 4/29 - 1
14-95599794-A-G c.2T>C p.Met1? Missense 4/29 - 1
14-95599842-T-C c.-45-2A>G - IntronicSNV - 3/28 1
14-95600006-G-C c.-45-166C>G - IntronicSNV - 3/28 1
14-95600372-T-A c.-212-365A>T - IntronicSNV - 1/28 1
14-95600372-T-C c.-212-365A>G - IntronicSNV - 1/28 1
14-95600411-T-C c.-45-571A>G - IntronicSNV - 3/28 1
14-95601698-A-G c.-212-1691T>C - IntronicSNV - 1/28 1
14-95602659-C-A c.-45-2819G>T - IntronicSNV - 3/28 1
14-95603219-A-C c.-212-3212T>G - IntronicSNV - 1/28 5
14-95605128-G-A c.-46+1868C>T - intron_variant - 3/28 1
14-95605510-G-C c.-212-5503C>G - IntronicSNV - 1/28 1
14-95606794-T-C c.-212-6787A>G - IntronicSNV - 1/28 2
14-95607179-T-C c.-146-83A>G - intron_variant - 2/28 1
14-95610324-T-A c.-212-2239A>T - intron_variant - 1/28 1
14-95612585-C-G c.-212-4500G>C - intron_variant - 1/28 1
14-95612585-C-T c.-212-4500G>A - intron_variant - 1/28 1
14-95613471-A-G c.-212-5386T>C - intron_variant - 1/28 1
14-95613524-G-A c.-212-5439C>T - intron_variant - 1/28 1
14-95613524-G-T c.-212-5439C>A - intron_variant - 1/28 1
14-95617062-A-G c.-213+7206T>C - intron_variant - 1/28 2
14-95617062-A-T c.-213+7206T>A - intron_variant - 1/28 2
14-95618898-T-C c.-213+5370A>G - intron_variant - 1/28 2
14-95619101-C-T c.-213+5167G>A - intron_variant - 1/28 2
14-95620762-T-C c.-213+3506A>G - intron_variant - 1/28 1
14-95621649-G-C c.-213+2619C>G - intron_variant - 1/28 1
14-95622200-T-C c.-213+2068A>G - intron_variant - 1/28 1
14-95622232-C-T c.-213+2036G>A - intron_variant - 1/28 1
14-95623178-T-A c.-213+1090A>T - intron_variant - 1/28 1
14-95623594-G-A c.-213+674C>T - intron_variant - 1/28 1
14-95624276-T-A c.-221A>T - 5_prime_UTR_variant 1/29 - 1