MYH7 myosin heavy chain 7

Canonical transcript: NM_000257

687 unique variant annotations were identified in 424 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
14-23881950-C-T c.*113G>A - 3-UTRSNV 40/40 - 1
14-23882144-T-C c.5791-64A>G - IntronicSNV - 39/39 2
14-23882186-T-C c.5791-106A>G - IntronicSNV - 39/39 1
14-23882186-T-G c.5791-106A>C - IntronicSNV - 39/39 1
14-23882972-G-A c.5786C>T p.Thr1929Met Missense 39/40 - 1
14-23882979-T-A c.5779A>T p.Ile1927Phe Missense 39/40 - 4
14-23882989-TC-T c.5769del p.Ser1924Alafs*9 Frameshift 39/40 - 1
14-23883001-C-A c.5757G>T p.Lys1919Asn Missense 39/40 - 1
14-23883001-C-G c.5757G>C p.Lys1919Asn Missense 39/40 - 1
14-23883004-G-T c.5754C>A p.Asn1918Lys Missense 39/40 - 7
14-23883004-G-C c.5754C>G p.Asn1918Lys Missense 39/40 - 7
14-23883018-C-T c.5740G>A p.Glu1914Lys Missense 39/40 - 7
14-23883023-A-T c.5735T>A p.Ile1912Asn Missense 39/40 - 1
14-23883032-C-G c.5726G>C p.Arg1909Pro Missense 39/40 - 2
14-23883054-C-G c.5704G>C p.Glu1902Gln Missense 39/40 - 2
14-23883055-G-T c.5703C>A p.His1901Gln Missense 39/40 - 1
14-23883055-G-C c.5703C>G p.His1901Gln Missense 39/40 - 1
14-23883056-T-A c.5702A>T p.His1901Leu Missense 39/40 - 7
14-23883089-T-C c.5669A>G p.Asn1890Ser Missense 39/40 - 1
14-23883102-C-T c.5656G>A p.Glu1886Lys Missense 39/40 - 2
14-23883184-C-T c.5655+32G>A - IntronicSNV - 38/39 2
14-23883195-G-A c.5655+21C>T - IntronicSNV - 38/39 1
14-23883216-C-T c.5655G>A p.Ala1885Ala Synonymous 38/40 - 1
14-23883224-C-T c.5647G>A p.Glu1883Lys Missense 38/40 - 6
14-23883247-A-G c.5624T>C p.Val1875Ala Missense 38/40 - 1
14-23883248-C-A c.5623G>T p.Val1875Phe Missense 38/40 - 1
14-23883283-C-T c.5588G>A p.Arg1863Gln Missense 38/40 - 1
14-23883298-C-A c.5573G>T p.Arg1858Met Missense 38/40 - 1
14-23883305-C-T c.5566G>A p.Glu1856Lys Missense 38/40 - 3
14-23883319-C-T c.5560-8G>A - IntronicSNV - 37/39 1
14-23884226-C-T c.5537G>A p.Arg1846His Missense 37/40 - 1
14-23884227-G-A c.5536C>T p.Arg1846Cys Missense 37/40 - 1
14-23884229-C-T c.5534G>A p.Arg1845Gln Missense 37/40 - 1
14-23884230-G-A c.5533C>T p.Arg1845Trp Missense 37/40 - 10
14-23884236-T-A c.5527A>T p.Ser1843Cys Missense 37/40 - 1
14-23884256-G-C c.5507C>G p.Ser1836Trp Missense 37/40 - 1
14-23884256-G-A c.5507C>T p.Ser1836Leu Missense 37/40 - 1
14-23884261-TGC-ATG c.5500_5502delinsCAT p.Ala1834His Missense 37/40 - 1
14-23884269-G-A c.5494C>T p.Arg1832Cys Missense 37/40 - 1
14-23884269-G-C c.5494C>G p.Arg1832Gly Missense 37/40 - 1
14-23884292-T-C c.5471A>G p.Asn1824Ser Missense 37/40 - 1
14-23884340-C-G c.5423G>C p.Gly1808Ala Missense 37/40 - 2
14-23884341-C-T c.5422G>A p.Gly1808Ser Missense 37/40 - 1
14-23884353-C-T c.5410G>A p.Ala1804Thr Missense 37/40 - 1
14-23884362-C-T c.5401G>A p.Glu1801Lys Missense 37/40 - 6
14-23884383-G-T c.5380C>A p.Gln1794Lys Missense 37/40 - 2
14-23884383-G-C c.5380C>G p.Gln1794Glu Missense 37/40 - 3
14-23884384-GCAG-G c.5378_5380del p.Leu1793del InFrameDeletion 37/40 - 1
14-23884385-A-G c.5378T>C p.Leu1793Pro Missense 37/40 - 11
14-23884415-CTTC-C c.5352_5354del p.Lys1784del InFrameDeletion 37/40 - 3
14-23884419-T-C c.5344A>G p.Met1782Val Missense 37/40 - 2
14-23884421-C-T c.5342G>A p.Arg1781His Missense 37/40 - 2
14-23884422-G-A c.5341C>T p.Arg1781Cys Missense 37/40 - 1
14-23884427-A-G c.5336T>C p.Leu1779Pro Missense 37/40 - 2
14-23884434-C-T c.5329G>A p.Ala1777Thr Missense 37/40 - 1
14-23884437-T-C c.5326A>G p.Ser1776Gly Missense 37/40 - 3
14-23884458-G-T c.5305C>A p.Leu1769Met Missense 37/40 - 1
14-23884461-C-T c.5302G>A p.Glu1768Lys Missense 37/40 - 3
14-23884467-C-T c.5296G>A p.Ala1766Thr Missense 37/40 - 2
14-23884476-C-T c.5287G>A p.Ala1763Thr Missense 37/40 - 3
14-23884594-G-A c.5279C>T p.Thr1760Met Missense 36/40 - 1
14-23884604-T-C c.5269A>G p.Lys1757Glu Missense 36/40 - 2
14-23884616-C-T c.5257G>A p.Glu1753Lys Missense 36/40 - 1
14-23884643-C-A c.5230G>T p.Ala1744Ser Missense 36/40 - 1
14-23884694-TTCT-T c.5186_5188del p.Lys1729del InFrameDeletion 36/40 - 9
14-23884705-A-G c.5168T>C p.Leu1723Pro Missense 36/40 - 3
14-23884860-C-T c.5135G>A p.Arg1712Gln Missense 35/40 - 3
14-23884861-G-A c.5134C>T p.Arg1712Trp Missense 35/40 - 3
14-23884878-A-G c.5117T>C p.Leu1706Pro Missense 35/40 - 8
14-23884889-C-T c.5106G>A p.Ala1702Ala Synonymous 35/40 - 2
14-23884889-C-A c.5106G>T p.Ala1702Ala Synonymous 35/40 - 2
14-23884924-C-T c.5071G>A p.Val1691Met Missense 35/40 - 2
14-23884965-C-T c.5030G>A p.Arg1677His Missense 35/40 - 1
14-23884968-C-G c.5027G>C p.Arg1676Pro Missense 35/40 - 1
14-23884990-TCCT-T c.5005_5007del p.Glu1669del InFrameDeletion 35/40 - 2
14-23885008-C-G c.4987G>C p.Ala1663Pro Missense 35/40 - 5
14-23885010-C-T c.4985G>A p.Arg1662His Missense 35/40 - 1
14-23885010-C-G c.4985G>C p.Arg1662Pro Missense 35/40 - 3
14-23885229-A-G c.4937T>C p.Leu1646Pro Missense 34/40 - 2
14-23885260-C-G c.4906G>C p.Ala1636Pro Missense 34/40 - 3
14-23885266-G-T c.4900C>A p.Arg1634Ser Missense 34/40 - 3
14-23885287-T-A c.4879A>T p.Ile1627Phe Missense 34/40 - 1
14-23885301-A-G c.4865T>C p.Leu1622Pro Missense 34/40 - 1
14-23885311-C-T c.4855G>A p.Glu1619Lys Missense 34/40 - 3
14-23885322-CTTC-C c.4850_4852del p.Lys1617del InFrameDeletion 34/40 - 10
14-23885331-A-G c.4835T>C p.Leu1612Pro Missense 34/40 - 3
14-23885338-C-G c.4828G>C p.Glu1610Gln Missense 34/40 - 1
14-23885343-C-G c.4823G>C p.Arg1608Pro Missense 34/40 - 2
14-23885350-G-A c.4816C>T p.Arg1606Cys Missense 34/40 - 3
14-23885359-C-G c.4807G>C p.Ala1603Pro Missense 34/40 - 5
14-23885363-C-T c.4803G>A p.Leu1601Leu Synonymous 34/40 - 1
14-23885371-T-G c.4795A>C p.Thr1599Pro Missense 34/40 - 3
14-23885376-A-C c.4790T>G p.Leu1597Arg Missense 34/40 - 3
14-23885378-C-G c.4788G>C p.Ser1596Ser Synonymous 34/40 - 1
14-23885378-C-T c.4788G>A p.Ser1596Ser Synonymous 34/40 - 1
14-23885394-A-G c.4772T>C p.Leu1591Pro Missense 34/40 - 3
14-23885394-A-T c.4772T>A p.Leu1591Gln Missense 34/40 - 1
14-23885403-C-G c.4763G>C p.Arg1588Pro Missense 34/40 - 1
14-23885446-G-A c.4720C>T p.Arg1574Trp Missense 34/40 - 1
14-23885449-C-T c.4717G>A p.Glu1573Lys Missense 34/40 - 3
14-23885476-C-T c.4690G>A p.Glu1564Lys Missense 34/40 - 2
14-23885493-A-C c.4673T>G p.Ile1558Ser Missense 34/40 - 1
14-23885494-T-A c.4672A>T p.Ile1558Phe Missense 34/40 - 1
14-23885503-C-T c.4663G>A p.Glu1555Lys Missense 34/40 - 3
14-23885506-C-G c.4660G>C p.Glu1554Gln Missense 34/40 - 1
14-23885514-A-G c.4652T>C p.Leu1551Pro Missense 34/40 - 1
14-23885694-G-A c.4645-173C>T - IntronicSNV - 33/39 1
14-23885717-G-A c.4645-196C>T - IntronicSNV - 33/39 1
14-23885717-G-C c.4645-196C>G - IntronicSNV - 33/39 1
14-23885887-G-A c.4644+190C>T - IntronicSNV - 33/39 2
14-23885997-G-A c.4644+80C>T - IntronicSNV - 33/39 2
14-23886099-T-G c.4622A>C p.Gln1541Pro Missense 33/40 - 3
14-23886166-T-A c.4555A>T p.Ser1519Cys Missense 33/40 - 2
14-23886183-G-C c.4538C>G p.Thr1513Ser Missense 33/40 - 2
14-23886184-T-A c.4537A>T p.Thr1513Ser Missense 33/40 - 2
14-23886200-CCTC-C c.4522_4524del p.Glu1508del InFrameDeletion 33/40 32/39 5
14-23886204-G-A c.4520-3C>T - IntronicSNV - 32/39 1
14-23886264-C-T c.4520-63G>A - IntronicSNV - 32/39 2
14-23886382-C-T c.4499G>A p.Arg1500Gln Missense 32/40 - 1
14-23886382-C-G c.4499G>C p.Arg1500Pro Missense 32/40 - 12
14-23886382-C-A c.4499G>T p.Arg1500Leu Missense 32/40 - 1
14-23886383-G-A c.4498C>T p.Arg1500Trp Missense 32/40 - 14
14-23886406-A-G c.4475T>C p.Leu1492Pro Missense 32/40 - 2
14-23886409-G-C c.4472C>G p.Ser1491Cys Missense 32/40 - 9
14-23886422-C-T c.4459G>A p.Ala1487Thr Missense 32/40 - 1
14-23886425-T-C c.4456A>G p.Asn1486Asp Missense 32/40 - 1
14-23886429-G-A c.4452C>T p.Leu1484Leu Synonymous 32/40 - 1
14-23886439-A-G c.4442T>C p.Leu1481Pro Missense 32/40 - 3
14-23886458-G-A c.4423C>T p.Arg1475Cys Missense 32/40 - 3
14-23886479-C-T c.4402G>A p.Glu1468Lys Missense 32/40 - 2
14-23886482-G-C c.4399C>G p.Leu1467Val Missense 32/40 - 2
14-23886504-C-G c.4377G>C p.Lys1459Asn Missense 32/40 - 6
14-23886509-G-C c.4372C>G p.Gln1458Glu Missense 32/40 - 1
14-23886518-C-T c.4363G>A p.Glu1455Lys Missense 32/40 - 1
14-23886518-C-A c.4363G>T p.Glu1455* Nonsense 32/40 - 2
14-23886670-C-T c.4353+42G>A - IntronicSNV - 31/39 1
14-23886702-C-T c.4353+10G>A - IntronicSNV - 31/39 1
14-23886717-C-T c.4348G>A p.Asp1450Asn Missense 31/40 - 3
14-23886738-C-T c.4327G>A p.Asp1443Asn Missense 31/40 - 1
14-23886744-C-CGGCGGG c.4320_4321insCCCGCC p.Ala1440_Ala1441insProAla InFrameInsertion 31/40 - 2
14-23886750-C-G c.4315G>C p.Ala1439Pro Missense 31/40 - 5
14-23886755-AGCA-A c.4317_4319del p.Ala1441del InFrameDeletion 31/40 - 1
14-23886756-C-G c.4309G>C p.Ala1437Pro Missense 31/40 - 2
14-23886761-G-C c.4304C>G p.Ser1435Cys Missense 31/40 - 1
14-23886762-A-G c.4303T>C p.Ser1435Pro Missense 31/40 - 3
14-23886764-C-G c.4301G>C p.Arg1434Pro Missense 31/40 - 2
14-23886765-G-A c.4300C>T p.Arg1434Cys Missense 31/40 - 2
14-23886782-A-G c.4283T>C p.Leu1428Ser Missense 31/40 - 1
14-23886789-C-T c.4276G>A p.Glu1426Lys Missense 31/40 - 7
14-23886806-C-T c.4259G>A p.Arg1420Gln Missense 31/40 - 1
14-23886807-G-A c.4258C>T p.Arg1420Trp Missense 31/40 - 6
14-23886825-G-T c.4240C>A p.Leu1414Met Missense 31/40 - 1
14-23886826-C-G c.4239G>C p.Ser1413Ser Synonymous 31/40 - 1
14-23886826-C-T c.4239G>A p.Ser1413Ser Synonymous 31/40 - 1
14-23887134-G-T c.4170-239C>A - IntronicSNV - 30/39 2
14-23887219-T-G c.4169+200A>C - IntronicSNV - 30/39 2
14-23887219-T-A c.4169+200A>T - IntronicSNV - 30/39 2
14-23887429-C-T c.4159G>A p.Glu1387Lys Missense 30/40 - 1
14-23887443-C-T c.4145G>A p.Arg1382Gln Missense 30/40 - 2
14-23887444-G-A c.4144C>T p.Arg1382Trp Missense 30/40 - 3
14-23887452-GC-CG c.4135_4136delinsCG p.Ala1379Arg Missense 30/40 - 1
14-23887453-C-T c.4135G>A p.Ala1379Thr Missense 30/40 - 3
14-23887458-G-A c.4130C>T p.Thr1377Met Missense 30/40 - 13
14-23887463-A-T c.4125T>A p.Tyr1375* Nonsense 30/40 - 1
14-23887510-C-T c.4078G>A p.Val1360Ile Missense 30/40 - 2
14-23887511-G-A c.4077C>T p.Arg1359Arg Synonymous 30/40 - 2
14-23887512-C-T c.4076G>A p.Arg1359His Missense 30/40 - 1
14-23887513-G-A c.4075C>T p.Arg1359Cys Missense 30/40 - 3
14-23887522-C-T c.4066G>A p.Glu1356Lys Missense 30/40 - 9
14-23887526-CTT-GAC c.4060_4062delinsGTC p.Lys1354Val Missense 30/40 - 1
14-23887548-T-C c.4040A>G p.Tyr1347Cys Missense 30/40 - 2
14-23887552-G-A c.4036C>T p.Gln1346* Nonsense 30/40 - 1
14-23887557-C-T c.4031G>A p.Arg1344Gln Missense 30/40 - 3
14-23887558-G-A c.4030C>T p.Arg1344Trp Missense 30/40 - 1
14-23887607-G-T c.3981C>A p.Asn1327Lys Missense 30/40 - 7
14-23887615-C-T c.3973G>A p.Ala1325Thr Missense 30/40 - 1
14-23887645-T-C c.3973-30A>G - IntronicSNV - 29/39 1
14-23888183-C-G c.3972+203G>C - IntronicSNV - 29/39 2
14-23888183-C-T c.3972+203G>A - IntronicSNV - 29/39 2
14-23888492-C-T c.3866G>A p.Arg1289Gln Missense 29/40 - 1
14-23888493-G-A c.3865C>T p.Arg1289Trp Missense 29/40 - 1
14-23888494-G-C c.3864C>G p.Ser1288Ser Synonymous 29/40 - 1
14-23888502-C-T c.3856G>A p.Glu1286Lys Missense 29/40 - 2
14-23888665-A-T c.3853+27T>A - IntronicSNV - 28/39 2
14-23888685-G-A c.3853+7C>T - IntronicSNV - 28/39 1
14-23888727-A-G c.3818T>C p.Leu1273Pro Missense 28/40 - 1
14-23888742-C-T c.3803G>A p.Arg1268His Missense 28/40 - 1
14-23888744-C-G c.3801G>C p.Gln1267His Missense 28/40 - 1
14-23888744-C-A c.3801G>T p.Gln1267His Missense 28/40 - 1
14-23889128-C-G c.3652G>C p.Glu1218Gln Missense 27/40 - 1
14-23889159-G-C c.3621C>G p.Ile1207Met Missense 27/40 - 1
14-23889167-C-T c.3613G>A p.Glu1205Lys Missense 27/40 - 2
14-23889202-C-T c.3578G>A p.Arg1193His Missense 27/40 - 2
14-23889203-G-T c.3577C>A p.Arg1193Ser Missense 27/40 - 4
14-23889245-C-T c.3535G>A p.Glu1179Lys Missense 27/40 - 1
14-23889325-T-A c.3455A>T p.Glu1152Val Missense 27/40 - 1
14-23889335-G-A c.3445C>T p.Arg1149Trp Missense 27/40 - 1
14-23889376-A-C c.3404T>G p.Leu1135Arg Missense 27/40 - 1
14-23889392-C-T c.3388G>A p.Ala1130Thr Missense 27/40 - 1
14-23889398-C-T c.3382G>A p.Ala1128Thr Missense 27/40 - 2
14-23889404-G-A c.3376C>T p.Arg1126Cys Missense 27/40 - 1
14-23889413-C-G c.3367G>C p.Glu1123Gln Missense 27/40 - 2
14-23889413-C-T c.3367G>A p.Glu1123Lys Missense 27/40 - 1
14-23889434-C-T c.3346G>A p.Glu1116Lys Missense 27/40 - 1
14-23889439-C-T c.3341G>A p.Arg1114His Missense 27/40 - 1
14-23889447-G-GG c.3337-3dup - IntronicInsertion - 26/39 1
14-23890217-C-A c.3286G>T p.Asp1096Tyr Missense 26/40 - 3
14-23890231-T-C c.3272A>G p.Asn1091Ser Missense 26/40 - 1
14-23891398-C-T c.3236G>A p.Arg1079Gln Missense 25/40 - 2
14-23891399-G-A c.3235C>T p.Arg1079Trp Missense 25/40 - 4
14-23891465-C-T c.3169G>A p.Gly1057Ser Missense 25/40 - 2
14-23891466-C-G c.3168G>C p.Glu1056Asp Missense 25/40 - 1
14-23891476-C-T c.3158G>A p.Arg1053Gln Missense 25/40 - 3
14-23891482-G-A c.3152C>T p.Ala1051Val Missense 25/40 - 1
14-23891496-C-A c.3138G>T p.Met1046Ile Missense 25/40 - 1
14-23891496-C-T c.3138G>A p.Met1046Ile Missense 25/40 - 1
14-23891496-C-G c.3138G>C p.Met1046Ile Missense 25/40 - 1
14-23891500-C-T c.3134G>A p.Arg1045His Missense 25/40 - 2
14-23891501-G-A c.3133C>T p.Arg1045Cys Missense 25/40 - 8
14-23891518-T-C c.3116A>G p.Glu1039Gly Missense 25/40 - 1
14-23891521-A-G c.3113T>C p.Leu1038Pro Missense 25/40 - 3
14-23892799-G-T c.3056C>A p.Thr1019Asn Missense 24/40 - 4
14-23892837-GAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCT-G c.2960_3018del p.Glu987Alafs*3 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 24/40 - 1
14-23892883-T-C c.2972A>G p.Lys991Arg Missense 24/40 - 1
14-23892888-A-G c.2967T>C p.Ile989Ile Synonymous 24/40 - 8
14-23892910-A-G c.2945T>C p.Met982Thr Missense 24/40 - 5
14-23892950-C-T c.2923-18G>A - IntronicSNV - 23/39 1
14-23893129-G-A c.2909C>T p.Ala970Val Missense 23/40 - 1
14-23893148-C-G c.2890G>C p.Val964Leu Missense 23/40 - 3
14-23893153-G-T c.2885C>A p.Ala962Asp Missense 23/40 - 1
14-23893162-A-C c.2876T>G p.Leu959Arg Missense 23/40 - 1
14-23893166-C-T c.2872G>A p.Glu958Lys Missense 23/40 - 1
14-23893168-A-C c.2870T>G p.Leu957Arg Missense 23/40 - 1
14-23893172-C-T c.2866G>A p.Asp956Asn Missense 23/40 - 1
14-23893175-C-T c.2863G>A p.Asp955Asn Missense 23/40 - 3
14-23893176-G-T c.2862C>A p.Ile954Ile Synonymous 23/40 - 1
14-23893181-C-G c.2857G>C p.Asp953His Missense 23/40 - 1
14-23893193-C-T c.2845G>A p.Glu949Lys Missense 23/40 - 2
14-23893217-G-A c.2821C>T p.Arg941Cys Missense 23/40 - 1
14-23893234-T-A c.2804A>T p.Glu935Val Missense 23/40 - 3
14-23893235-C-T c.2803G>A p.Glu935Lys Missense 23/40 - 4
14-23893237-G-A c.2801C>T p.Ala934Val Missense 23/40 - 1
14-23893243-A-T c.2795T>A p.Met932Lys Missense 23/40 - 2
14-23893246-T-G c.2792A>C p.Glu931Ala Missense 23/40 - 2
14-23893247-C-T c.2791G>A p.Glu931Lys Missense 23/40 - 1
14-23893250-C-G c.2788G>C p.Glu930Gln Missense 23/40 - 1
14-23893250-C-T c.2788G>A p.Glu930Lys Missense 23/40 - 3
14-23893251-CCTC-C c.2791_2793del p.Glu931del InFrameDeletion 23/40 - 1
14-23893253-C-T c.2785G>A p.Glu929Lys Missense 23/40 - 2
14-23893255-T-A c.2783A>T p.Asp928Val Missense 23/40 - 3
14-23893256-C-T c.2782G>A p.Asp928Asn Missense 23/40 - 2
14-23893258-CTCC-C c.2781_2783del p.Glu927del InFrameDeletion 23/40 - 2
14-23893259-C-T c.2779G>A p.Glu927Lys Missense 23/40 - 5
14-23893268-C-T c.2770G>A p.Glu924Lys Missense 23/40 - 9
14-23893273-A-T c.2765T>A p.Met922Lys Missense 23/40 - 2
14-23893277-C-T c.2761G>A p.Glu921Lys Missense 23/40 - 2
14-23893279-T-A c.2759A>T p.Lys920Met Missense 23/40 - 1
14-23893282-A-C c.2756T>G p.Val919Gly Missense 23/40 - 1
14-23893294-A-G c.2744T>C p.Leu915Pro Missense 23/40 - 2
14-23893296-C-G c.2742G>C p.Gln914His Missense 23/40 - 1
14-23893296-C-A c.2742G>T p.Gln914His Missense 23/40 - 1
14-23893302-C-A c.2736G>T p.Lys912Asn Missense 23/40 - 1
14-23893304-T-G c.2734A>C p.Lys912Gln Missense 23/40 - 1
14-23893311-G-C c.2727C>G p.Ile909Met Missense 23/40 - 1
14-23893313-T-C c.2725A>G p.Ile909Val Missense 23/40 - 1
14-23893316-G-C c.2722C>G p.Leu908Val Missense 23/40 - 11
14-23893321-T-C c.2717A>G p.Asp906Gly Missense 23/40 - 6
14-23893327-C-T c.2711G>A p.Arg904His Missense 23/40 - 1
14-23893328-G-A c.2710C>T p.Arg904Cys Missense 23/40 - 3
14-23893330-T-C c.2708A>G p.Glu903Gly Missense 23/40 - 2
14-23893331-C-G c.2707G>C p.Glu903Gln Missense 23/40 - 2
14-23893336-G-C c.2702C>G p.Ala901Gly Missense 23/40 - 2
14-23893337-C-G c.2701G>C p.Ala901Pro Missense 23/40 - 1
14-23893346-G-C c.2692C>G p.Leu898Val Missense 23/40 - 1
14-23893352-C-T c.2686G>A p.Asp896Asn Missense 23/40 - 1
14-23893353-T-G c.2685A>C p.Gln895His Missense 23/40 - 1
14-23893357-T-C c.2681A>G p.Glu894Gly Missense 23/40 - 3
14-23893979-G-A c.2678C>T p.Ala893Val Missense 22/40 - 4
14-23893983-G-T c.2674C>A p.Gln892Lys Missense 22/40 - 1
14-23894003-T-G c.2654A>C p.Asn885Thr Missense 22/40 - 2
14-23894013-G-C c.2644C>G p.Gln882Glu Missense 22/40 - 1
14-23894024-A-C c.2633T>G p.Val878Gly Missense 22/40 - 1
14-23894024-A-G c.2633T>C p.Val878Ala Missense 22/40 - 2
14-23894026-C-A c.2631G>T p.Met877Ile Missense 22/40 - 5
14-23894027-A-T c.2630T>A p.Met877Lys Missense 22/40 - 1
14-23894037-C-G c.2620G>C p.Glu874Gln Missense 22/40 - 1
14-23894048-C-T c.2609G>A p.Arg870His Missense 22/40 - 11
14-23894049-G-A c.2608C>T p.Arg870Cys Missense 22/40 - 5
14-23894051-C-T c.2606G>A p.Arg869His Missense 22/40 - 4
14-23894052-G-C c.2605C>G p.Arg869Gly Missense 22/40 - 1
14-23894061-A-G c.2596T>C p.Ser866Pro Missense 22/40 - 4
14-23894072-G-A c.2585C>T p.Ala862Val Missense 22/40 - 1
14-23894084-C-T c.2573G>A p.Arg858His Missense 22/40 - 2
14-23894085-G-A c.2572C>T p.Arg858Cys Missense 22/40 - 4
14-23894102-A-G c.2555T>C p.Met852Thr Missense 22/40 - 1
14-23894108-GGCCATCTCC-G c.2541_2549del p.Lys847_Ala850delinsAsn MultiAAMissense 22/40 - 1
14-23894108-G-T c.2549C>A p.Ala850Asp Missense 22/40 - 1
14-23894111-A-G c.2546T>C p.Met849Thr Missense 22/40 - 1
14-23894114-T-C c.2543A>G p.Glu848Gly Missense 22/40 - 8
14-23894118-T-C c.2539A>G p.Lys847Glu Missense 22/40 - 1
14-23894118-TTCT-T c.2539_2541del p.Lys847del InFrameDeletion 22/40 - 5
14-23894121-C-T c.2536G>A p.Glu846Lys Missense 22/40 - 2
14-23894130-C-A c.2527G>T p.Ala843Ser Missense 22/40 - 1
14-23894132-C-T c.2525G>A p.Ser842Asn Missense 22/40 - 2
14-23894139-G-T c.2518C>A p.Leu840Met Missense 22/40 - 1
14-23894144-G-A c.2513C>T p.Pro838Leu Missense 22/40 - 2
14-23894150-A-G c.2507T>C p.Ile836Thr Missense 22/40 - 1
14-23894155-G-T c.2502C>A p.Phe834Leu Missense 22/40 - 2
14-23894155-G-C c.2502C>G p.Phe834Leu Missense 22/40 - 2
14-23894157-A-G c.2500T>C p.Phe834Leu Missense 22/40 - 2
14-23894160-A-G c.2497T>C p.Tyr833His Missense 22/40 - 1
14-23894173-G-A c.2484C>T p.Pro828Pro Synonymous 22/40 - 1
14-23894174-G-A c.2483C>T p.Pro828Leu Missense 22/40 - 1
14-23894193-T-G c.2464A>C p.Met822Leu Missense 22/40 - 2
14-23894193-T-C c.2464A>G p.Met822Val Missense 22/40 - 1
14-23894193-T-A c.2464A>T p.Met822Leu Missense 22/40 - 2
14-23894201-C-T c.2456G>A p.Arg819Gln Missense 22/40 - 1
14-23894211-A-C c.2446T>G p.Trp816Gly Missense 22/40 - 1
14-23894225-A-G c.2432T>C p.Leu811Pro Missense 22/40 - 2
14-23894494-C-T c.2420G>A p.Arg807His Missense 21/40 - 1
14-23894525-C-G c.2389G>C p.Ala797Pro Missense 21/40 - 1
14-23894525-C-T c.2389G>A p.Ala797Thr Missense 21/40 - 14
14-23894528-G-A c.2386C>T p.Leu796Phe Missense 21/40 - 1
14-23894541-C-CC c.2373dup p.Ser792Valfs*17 Frameshift 21/40 - 1
14-23894554-C-G c.2360G>C p.Arg787Pro Missense 21/40 - 1
14-23894554-C-T c.2360G>A p.Arg787His Missense 21/40 - 9
14-23894555-G-A c.2359C>T p.Arg787Cys Missense 21/40 - 2
14-23894556-C-A c.2358G>T p.Thr786Thr Synonymous 21/40 - 1
14-23894556-C-T c.2358G>A p.Thr786Thr Synonymous 21/40 - 1
14-23894566-C-G c.2348G>C p.Arg783Pro Missense 21/40 - 3
14-23894566-C-T c.2348G>A p.Arg783His Missense 21/40 - 4
14-23894568-G-C c.2346C>G p.Ser782Arg Missense 21/40 - 3
14-23894568-G-T c.2346C>A p.Ser782Arg Missense 21/40 - 3
14-23894570-T-G c.2344A>C p.Ser782Arg Missense 21/40 - 3
14-23894569-C-T c.2345G>A p.Ser782Asn Missense 21/40 - 1
14-23894569-CT-GA c.2344_2345delinsTC p.Ser782Ser Missense 21/40 - 1
14-23894572-A-G c.2342T>C p.Leu781Pro Missense 21/40 - 1
14-23894580-G-C c.2334C>G p.Asp778Glu Missense 21/40 - 2
14-23894581-T-C c.2333A>G p.Asp778Gly Missense 21/40 - 2
14-23894581-T-A c.2333A>T p.Asp778Val Missense 21/40 - 1
14-23894582-C-T c.2332G>A p.Asp778Asn Missense 21/40 - 1
14-23894584-C-G c.2330G>C p.Arg777Thr Missense 21/40 - 1
14-23894612-C-T c.2302G>A p.Gly768Arg Missense 21/40 - 7
14-23894612-C-G c.2302G>C p.Gly768Arg Missense 21/40 - 8
14-23894618-T-G c.2296A>C p.Lys766Gln Missense 21/40 - 1
14-23894622-G-C c.2292C>G p.Phe764Leu Missense 21/40 - 15
14-23894624-A-G c.2290T>C p.Phe764Leu Missense 21/40 - 15
14-23894622-G-T c.2292C>A p.Phe764Leu Missense 21/40 - 15
14-23894626-A-C c.2288T>G p.Val763Gly Missense 21/40 - 1
14-23894627-C-T c.2287G>A p.Val763Met Missense 21/40 - 2
14-23894670-G-A c.2287-43C>T - IntronicSNV - 20/39 1
14-23894905-T-C c.2285A>G p.Lys762Arg Missense 20/40 - 2
14-23894908-G-T c.2282C>A p.Thr761Asn Missense 20/40 - 3
14-23894917-A-C c.2273T>G p.Phe758Cys Missense 20/40 - 1
14-23894936-C-T c.2254G>A p.Asp752Asn Missense 20/40 - 1
14-23894944-A-T c.2246T>A p.Leu749Gln Missense 20/40 - 1
14-23894961-C-A c.2229G>T p.Glu743Asp Missense 20/40 - 1
14-23894961-C-G c.2229G>C p.Glu743Asp Missense 20/40 - 1
14-23894965-G-T c.2225C>A p.Ala742Glu Missense 20/40 - 1
14-23894969-C-A c.2221G>T p.Gly741Trp Missense 20/40 - 7
14-23894969-C-G c.2221G>C p.Gly741Arg Missense 20/40 - 13
14-23894970-C-A c.2220G>T p.Lys740Asn Missense 20/40 - 2
14-23894970-C-G c.2220G>C p.Lys740Asn Missense 20/40 - 2
14-23894973-C-G c.2217G>C p.Arg739Ser Missense 20/40 - 1
14-23894973-C-A c.2217G>T p.Arg739Ser Missense 20/40 - 1
14-23894982-A-C c.2208T>G p.Ile736Met Missense 20/40 - 1
14-23894983-A-G c.2207T>C p.Ile736Thr Missense 20/40 - 17
14-23894990-G-C c.2200C>G p.Gln734Glu Missense 20/40 - 1
14-23894992-C-T c.2198G>A p.Gly733Glu Missense 20/40 - 3
14-23894993-C-T c.2197G>A p.Gly733Arg Missense 20/40 - 1
14-23894993-C-G c.2197G>C p.Gly733Arg Missense 20/40 - 1
14-23894998-G-A c.2192C>T p.Pro731Leu Missense 20/40 - 2
14-23894999-G-C c.2191C>G p.Pro731Ala Missense 20/40 - 2
14-23895001-A-G c.2189T>C p.Ile730Thr Missense 20/40 - 2
14-23895001-A-T c.2189T>A p.Ile730Asn Missense 20/40 - 2
14-23895007-G-A c.2183C>T p.Ala728Val Missense 20/40 - 2
14-23895022-C-T c.2168G>A p.Arg723His Missense 20/40 - 1
14-23895023-G-C c.2167C>G p.Arg723Gly Missense 20/40 - 24
14-23895023-G-A c.2167C>T p.Arg723Cys Missense 20/40 - 9
14-23895083-T-C c.2163-56A>G - IntronicSNV - 19/39 1
14-23895169-C-T c.2162+4G>A - IntronicSNV - 19/39 1
14-23895173-C-T c.2162G>A p.Arg721Lys Missense 19/40 - 3
14-23895179-CG-GA c.2155_2156delinsTC p.Arg719Ser Missense 19/40 - 1
14-23895179-C-G c.2156G>C p.Arg719Pro Missense 19/40 - 2
14-23895179-C-A c.2156G>T p.Arg719Leu Missense 19/40 - 1
14-23895179-C-T c.2156G>A p.Arg719Gln Missense 19/40 - 28
14-23895180-G-C c.2155C>G p.Arg719Gly Missense 19/40 - 2
14-23895180-G-A c.2155C>T p.Arg719Trp Missense 19/40 - 53
14-23895185-T-A c.2150A>T p.Asp717Val Missense 19/40 - 1
14-23895185-T-C c.2150A>G p.Asp717Gly Missense 19/40 - 2
14-23895188-C-G c.2147G>C p.Gly716Ala Missense 19/40 - 1
14-23895189-C-T c.2146G>A p.Gly716Arg Missense 19/40 - 15
14-23895189-C-G c.2146G>C p.Gly716Arg Missense 19/40 - 11
14-23895200-C-T c.2135G>A p.Arg712His Missense 19/40 - 1
14-23895200-C-A c.2135G>T p.Arg712Leu Missense 19/40 - 4
14-23895201-G-C c.2134C>G p.Arg712Gly Missense 19/40 - 1
14-23895206-G-T c.2129C>A p.Pro710His Missense 19/40 - 2
14-23895212-C-G c.2123G>C p.Gly708Ala Missense 19/40 - 4
14-23895230-A-T c.2105T>A p.Ile702Asn Missense 19/40 - 2
14-23895233-C-T c.2102G>A p.Gly701Asp Missense 19/40 - 3
14-23895236-T-C c.2099A>G p.Glu700Gly Missense 19/40 - 2
14-23895242-A-G c.2093T>C p.Val698Ala Missense 19/40 - 3
14-23895248-T-C c.2087A>G p.Asn696Ser Missense 19/40 - 2
14-23895252-A-G c.2083T>C p.Cys695Arg Missense 19/40 - 1
14-23895254-C-T c.2081G>A p.Arg694His Missense 19/40 - 1
14-23895255-G-A c.2080C>T p.Arg694Cys Missense 19/40 - 3
14-23895266-A-T c.2069T>A p.Met690Lys Missense 19/40 - 1
14-23895266-A-G c.2069T>C p.Met690Thr Missense 19/40 - 2
14-23896015-C-A c.2015G>T p.Cys672Phe Missense 18/40 - 1
14-23896019-G-A c.2011C>T p.Arg671Cys Missense 18/40 - 1
14-23896028-G-T c.2002C>A p.His668Asn Missense 18/40 - 1
14-23896042-C-T c.1988G>A p.Arg663His Missense 18/40 - 58
14-23896043-G-A c.1987C>T p.Arg663Cys Missense 18/40 - 11
14-23896054-A-G c.1976T>C p.Met659Thr Missense 18/40 - 1
14-23896061-T-G c.1969A>C p.Lys657Gln Missense 18/40 - 3
14-23896449-C-A c.1956G>T p.Arg652Ser Missense 17/40 - 1
14-23896449-C-G c.1956G>C p.Arg652Ser Missense 17/40 - 1
14-23896450-C-G c.1955G>C p.Arg652Thr Missense 17/40 - 1
14-23896451-T-C c.1954A>G p.Arg652Gly Missense 17/40 - 3
14-23896462-G-A c.1943C>T p.Ser648Leu Missense 17/40 - 2
14-23896480-G-A c.1925C>T p.Ser642Leu Missense 17/40 - 2
14-23896483-C-T c.1922G>A p.Gly641Asp Missense 17/40 - 1
14-23896483-C-G c.1922G>C p.Gly641Ala Missense 17/40 - 1
14-23896496-T-C c.1909A>G p.Lys637Glu Missense 17/40 - 2
14-23896498-C-G c.1907G>C p.Gly636Ala Missense 17/40 - 1
14-23896806-C-A c.1876G>T p.Gly626Trp Missense 16/40 - 1
14-23896823-A-G c.1859T>C p.Leu620Pro Missense 16/40 - 2
14-23896823-A-T c.1859T>A p.Leu620Gln Missense 16/40 - 1
14-23896841-A-G c.1841T>C p.Leu614Pro Missense 16/40 - 1
14-23896866-C-T c.1816G>A p.Val606Met Missense 16/40 - 33
14-23896884-G-A c.1798C>T p.Pro600Ser Missense 16/40 - 2
14-23896891-G-T c.1791C>A p.Asn597Lys Missense 16/40 - 1
14-23896891-G-C c.1791C>G p.Asn597Lys Missense 16/40 - 1
14-23896902-G-T c.1780C>A p.Leu594Met Missense 16/40 - 2
14-23896905-CA-C c.1777del p.Trp593Glyfs*63 Frameshift 16/40 - 1
14-23896912-G-GG c.1770dup p.Ile591Hisfs*13 Frameshift 16/40 - 1
14-23896923-C-T c.1759G>A p.Asp587Asn Missense 16/40 - 1
14-23896925-A-G c.1757T>C p.Val586Ala Missense 16/40 - 1
14-23896932-C-G c.1750G>C p.Gly584Arg Missense 16/40 - 6
14-23896955-T-C c.1727A>G p.His576Arg Missense 16/40 - 1
14-23896982-C-T c.1700G>A p.Arg567His Missense 16/40 - 2
14-23897001-C-T c.1681G>A p.Ala561Thr Missense 16/40 - 1
14-23897033-G-A c.1649C>T p.Ala550Val Missense 16/40 - 2
14-23897049-C-T c.1633G>A p.Asp545Asn Missense 16/40 - 2
14-23897056-C-A c.1626G>T p.Lys542Asn Missense 16/40 - 1
14-23897056-C-G c.1626G>C p.Lys542Asn Missense 16/40 - 1
14-23897074-C-G c.1608G>C p.Glu536Asp Missense 16/40 - 1
14-23897074-C-A c.1608G>T p.Glu536Asp Missense 16/40 - 1
14-23897085-T-C c.1597A>G p.Ile533Val Missense 16/40 - 1
14-23897088-A-G c.1594T>C p.Ser532Pro Missense 16/40 - 20
14-23897090-A-C c.1592T>G p.Met531Arg Missense 16/40 - 4
14-23897102-G-A c.1580C>T p.Pro527Leu Missense 16/40 - 1
14-23897103-G-A c.1579C>T p.Pro527Ser Missense 16/40 - 1
14-23897714-C-T c.1573G>A p.Glu525Lys Missense 15/40 - 2
14-23897715-GA-AG c.1571_1572delinsCT p.Ile524Thr Missense 15/40 - 1
14-23897717-T-C c.1570A>G p.Ile524Val Missense 15/40 - 1
14-23897722-T-A c.1565A>T p.Asp522Val Missense 15/40 - 1
14-23897738-G-T c.1549C>A p.Leu517Met Missense 15/40 - 2
14-23897743-A-G c.1544T>C p.Met515Thr Missense 15/40 - 2
14-23897749-A-C c.1538T>G p.Phe513Cys Missense 15/40 - 1
14-23897755-A-G c.1532T>C p.Ile511Thr Missense 15/40 - 1
14-23897771-T-A c.1516A>T p.Ile506Phe Missense 15/40 - 1
14-23897776-T-C c.1511A>G p.Glu504Gly Missense 15/40 - 1
14-23897792-C-T c.1495G>A p.Glu499Lys Missense 15/40 - 2
14-23897792-TCCT-T c.1498_1500del p.Glu500del InFrameDeletion 15/40 - 2
14-23897794-CT-C c.1493del p.Gln498Argfs*49 Frameshift 15/40 - 1
14-23897794-T-C c.1493A>G p.Gln498Arg Missense 15/40 - 1
14-23897796-C-A c.1491G>T p.Glu497Asp Missense 15/40 - 3
14-23897796-C-G c.1491G>C p.Glu497Asp Missense 15/40 - 3
14-23897797-T-C c.1490A>G p.Glu497Gly Missense 15/40 - 1
14-23897801-G-A c.1486C>T p.Leu496Leu Synonymous 15/40 - 1
14-23897809-CAT-C c.1477_1478del p.Met493Valfs*19 Frameshift 15/40 - 1
14-23897810-T-C c.1477A>G p.Met493Val Missense 15/40 - 3
14-23897840-C-T c.1447G>A p.Glu483Lys Missense 15/40 - 1
14-23897851-T-C c.1436A>G p.Asn479Ser Missense 15/40 - 2
14-23897851-T-G c.1436A>C p.Asn479Thr Missense 15/40 - 1
14-23897854-A-T c.1433T>A p.Ile478Asn Missense 15/40 - 1
14-23897855-T-C c.1432A>G p.Ile478Val Missense 15/40 - 1
14-23897861-G-A c.1426C>T p.Leu476Phe Missense 15/40 - 1
14-23897875-T-C c.1412A>G p.Asn471Ser Missense 15/40 - 1
14-23897914-A-G c.1408-35T>C - IntronicSNV - 14/39 1
14-23898166-C-A c.1405G>T p.Asp469Tyr Missense 14/40 - 2
14-23898169-A-G c.1402T>C p.Phe468Leu Missense 14/40 - 3
14-23898196-C-T c.1375G>A p.Val459Ile Missense 14/40 - 1
14-23898201-A-C c.1370T>G p.Ile457Arg Missense 14/40 - 1
14-23898201-A-G c.1370T>C p.Ile457Thr Missense 14/40 - 3
14-23898203-G-A c.1368C>T p.Phe456Phe Synonymous 14/40 - 1
14-23898213-C-T c.1358G>A p.Arg453His Missense 14/40 - 3
14-23898214-G-T c.1357C>A p.Arg453Ser Missense 14/40 - 3
14-23898214-G-A c.1357C>T p.Arg453Cys Missense 14/40 - 63
14-23898215-T-A c.1356A>T p.Pro452Pro Synonymous 14/40 - 1
14-23898221-C-A c.1350G>T p.Lys450Asn Missense 14/40 - 1
14-23898225-G-C c.1346C>G p.Thr449Ser Missense 14/40 - 1
14-23898226-T-A c.1345A>T p.Thr449Ser Missense 14/40 - 1
14-23898235-T-G c.1336A>C p.Thr446Pro Missense 14/40 - 1
14-23898246-C-T c.1325G>A p.Arg442His Missense 14/40 - 2
14-23898247-G-A c.1324C>T p.Arg442Cys Missense 14/40 - 2
14-23898247-G-C c.1324C>G p.Arg442Gly Missense 14/40 - 14
14-23898249-G-A c.1322C>T p.Thr441Met Missense 14/40 - 4
14-23898267-A-G c.1304T>C p.Met435Thr Missense 14/40 - 1
14-23898280-C-G c.1291G>C p.Val431Leu Missense 14/40 - 2
14-23898288-G-T c.1283C>A p.Ala428Asp Missense 14/40 - 1
14-23898292-G-T c.1279C>A p.Leu427Met Missense 14/40 - 1
14-23898294-GCC-TCT c.1275_1277delinsAGA p.Ala426Glu Missense 14/40 - 1
14-23898298-C-G c.1273G>C p.Gly425Arg Missense 14/40 - 2
14-23898298-C-T c.1273G>A p.Gly425Arg Missense 14/40 - 2
14-23898443-G-T c.1252C>A p.Gln418Lys Missense 13/40 - 1
14-23898460-G-T c.1235C>A p.Thr412Asn Missense 13/40 - 2
14-23898464-C-T c.1231G>A p.Val411Ile Missense 13/40 - 5
14-23898476-C-A c.1219G>T p.Gly407Cys Missense 13/40 - 3
14-23898479-C-T c.1216G>A p.Val406Met Missense 13/40 - 2
14-23898481-T-TGT c.1214_1215insCA p.Lys405Asnfs*17 Frameshift 13/40 - 1
14-23898487-C-T c.1208G>A p.Arg403Gln Missense 13/40 - 104
14-23898487-CG-AC c.1207_1208delinsGT p.Arg403Val Missense 13/40 - 1
14-23898487-C-A c.1208G>T p.Arg403Leu Missense 13/40 - 2
14-23898487-CG-GA c.1207_1208delinsTC p.Arg403Ser Missense 13/40 - 4
14-23898488-G-A c.1207C>T p.Arg403Trp Missense 13/40 - 22
14-23898488-G-C c.1207C>G p.Arg403Gly Missense 13/40 - 4
14-23898513-G-T c.1182C>A p.Asp394Glu Missense 13/40 - 1
14-23898517-G-A c.1178C>T p.Ala393Val Missense 13/40 - 2
14-23898518-C-T c.1177G>A p.Ala393Thr Missense 13/40 - 1
14-23898526-A-G c.1169T>C p.Leu390Pro Missense 13/40 - 3
14-23898536-G-A c.1159C>T p.Leu387Phe Missense 13/40 - 2
14-23898538-T-C c.1157A>G p.Tyr386Cys Missense 13/40 - 2
14-23898550-TC-CG c.1144_1145delinsCG p.Asp382Arg Missense 13/40 - 1
14-23898550-T-C c.1145A>G p.Asp382Gly Missense 13/40 - 1
14-23898551-C-A c.1144G>T p.Asp382Tyr Missense 13/40 - 3
14-23898553-G-T c.1142C>A p.Ala381Asp Missense 13/40 - 1
14-23898987-C-T c.1135G>A p.Glu379Lys Missense 12/40 - 1
14-23898994-G-A c.1128C>T p.Asp376Asp Synonymous 12/40 - 2
14-23898994-G-T c.1128C>A p.Asp376Glu Missense 12/40 - 1
14-23899001-T-A c.1121A>T p.Glu374Val Missense 12/40 - 1
14-23899010-CT-C c.1112del p.Glu371Glyfs*20 Frameshift 12/40 - 1
14-23899016-C-T c.1106G>A p.Arg369Gln Missense 12/40 - 5
14-23899027-C-A c.1095G>T p.Lys365Asn Missense 12/40 - 2
14-23899027-C-T c.1095G>A p.Lys365Lys Synonymous 12/40 - 7
14-23899027-C-G c.1095G>C p.Lys365Asn Missense 12/40 - 2
14-23899037-A-C c.1085T>G p.Met362Arg Missense 12/40 - 2
14-23899059-C-A c.1063G>T p.Ala355Ser Missense 12/40 - 1
14-23899059-C-T c.1063G>A p.Ala355Thr Missense 12/40 - 4
14-23899060-G-A c.1062C>T p.Gly354Gly Synonymous 12/40 - 6
14-23899062-C-T c.1060G>A p.Gly354Ser Missense 12/40 - 1
14-23899071-T-C c.1051A>G p.Lys351Glu Missense 12/40 - 2
14-23899074-A-C c.1048T>G p.Tyr350Asp Missense 12/40 - 1
14-23899074-A-T c.1048T>A p.Tyr350Asn Missense 12/40 - 2
14-23899079-G-T c.1043C>A p.Ser348Tyr Missense 12/40 - 1
14-23899103-C-T c.1019G>A p.Gly340Asp Missense 12/40 - 1
14-23899110-C-T c.1012G>A p.Val338Met Missense 12/40 - 1
14-23899123-C-T c.1000-1G>A - IntronicSNV - 11/39 1
14-23899725-A-G c.999+44T>C - IntronicSNV - 11/39 1
14-23899777-C-G c.991G>C p.Ala331Pro Missense 11/40 - 2
14-23899785-T-C c.983A>G p.Glu328Gly Missense 11/40 - 2
14-23899792-C-G c.976G>C p.Ala326Pro Missense 11/40 - 2
14-23899793-G-A c.975C>T p.Asp325Asp Synonymous 11/40 - 2
14-23899796-A-AA c.972dup p.Asp325* Nonsense 11/40 - 1
14-23899800-A-T c.968T>A p.Ile323Asn Missense 11/40 - 3
14-23899806-G-A c.962C>T p.Ala321Val Missense 11/40 - 2
14-23899806-G-T c.962C>A p.Ala321Asp Missense 11/40 - 1
14-23899815-G-T c.953C>A p.Thr318Asn Missense 11/40 - 1
14-23899838-A-G c.930T>C p.Tyr310Tyr Synonymous 11/40 - 1
14-23899843-C-T c.925G>A p.Asp309Asn Missense 11/40 - 2
14-23899848-G-C c.920C>G p.Pro307Arg Missense 11/40 - 1
14-23899848-G-T c.920C>A p.Pro307His Missense 11/40 - 2
14-23899852-T-C c.916A>G p.Asn306Asp Missense 11/40 - 1
14-23899866-A-T c.902T>A p.Leu301Gln Missense 11/40 - 1
14-23900093-C-T c.895+17G>A - IntronicSNV - 10/39 1
14-23900110-C-A c.895G>T p.Asp299Tyr Missense 10/40 - 1
14-23900133-G-A c.872C>T p.Ser291Phe Missense 10/40 - 1
14-23900157-T-C c.848A>G p.Tyr283Cys Missense 10/40 - 1
14-23900158-A-C c.847T>G p.Tyr283Asp Missense 10/40 - 4
14-23900163-C-T c.842G>A p.Arg281Lys Missense 10/40 - 1
14-23900163-C-G c.842G>C p.Arg281Thr Missense 10/40 - 6
14-23900189-TCT-CAT c.815_816delinsTG p.Arg272Met Missense 10/40 - 1
14-23900193-G-A c.812C>T p.Ser271Phe Missense 10/40 - 1
14-23900195-T-A c.810A>T p.Lys270Asn Missense 10/40 - 1
14-23900195-T-G c.810A>C p.Lys270Asn Missense 10/40 - 1
14-23900206-G-C c.799C>G p.Leu267Val Missense 10/40 - 2
14-23900208-T-A c.797A>T p.Tyr266Phe Missense 10/40 - 1
14-23900633-C-T c.790G>A p.Glu264Lys Missense 9/40 - 1
14-23900634-T-C c.789A>G p.Ile263Met Missense 9/40 - 1
14-23900635-A-G c.788T>C p.Ile263Thr Missense 9/40 - 4
14-23900647-G-T c.776C>A p.Ala259Glu Missense 9/40 - 1
14-23900656-C-T c.767G>A p.Gly256Glu Missense 9/40 - 2
14-23900662-G-T c.761C>A p.Ala254Glu Missense 9/40 - 1
14-23900663-C-T c.760G>A p.Ala254Thr Missense 9/40 - 1
14-23900672-G-T c.751C>A p.His251Asn Missense 9/40 - 6
14-23900677-C-T c.746G>A p.Arg249Gln Missense 9/40 - 9
14-23900677-CG-TC c.745_746delinsGA p.Arg249Glu Missense 9/40 - 1
14-23900678-G-C c.745C>G p.Arg249Gly Missense 9/40 - 2
14-23900680-A-G c.743T>C p.Ile248Thr Missense 9/40 - 1
14-23900681-T-A c.742A>T p.Ile248Phe Missense 9/40 - 1
14-23900682-G-C c.741C>G p.Phe247Leu Missense 9/40 - 1
14-23900682-G-T c.741C>A p.Phe247Leu Missense 9/40 - 1
14-23900684-A-G c.739T>C p.Phe247Leu Missense 9/40 - 1
14-23900686-T-A c.737A>T p.Lys246Ile Missense 9/40 - 1
14-23900689-C-T c.734G>A p.Gly245Glu Missense 9/40 - 1
14-23900793-C-T c.732+1G>A - IntronicSNV - 8/39 2
14-23900794-G-A c.732C>T p.Phe244Phe Synonymous 8/40 - 7
14-23900795-A-C c.731T>G p.Phe244Cys Missense 8/40 - 1
14-23900794-G-C c.732C>G p.Phe244Leu Missense 8/40 - 4
14-23900798-C-T c.728G>A p.Arg243His Missense 8/40 - 7
14-23900801-GA-CA c.725delinsG p.Ser242Cys Missense 8/40 - 1
14-23900804-G-A c.722C>T p.Ser241Phe Missense 8/40 - 1
14-23900811-C-T c.715G>A p.Asp239Asn Missense 8/40 - 4
14-23900817-G-A c.709C>T p.Arg237Trp Missense 8/40 - 3
14-23900832-T-G c.694A>C p.Asn232His Missense 8/40 - 1
14-23900841-C-T c.685G>A p.Ala229Thr Missense 8/40 - 1
14-23900847-G-C c.679C>G p.Leu227Val Missense 8/40 - 1
14-23900849-G-A c.677C>T p.Ala226Val Missense 8/40 - 2
14-23900850-C-T c.676G>A p.Ala226Thr Missense 8/40 - 3
14-23900859-C-A c.667G>T p.Ala223Ser Missense 8/40 - 1
14-23900859-C-T c.667G>A p.Ala223Thr Missense 8/40 - 3
14-23900880-G-C c.646C>G p.Leu216Val Missense 8/40 - 1
14-23900885-C-T c.641G>A p.Gly214Asp Missense 8/40 - 2
14-23900984-G-C c.625C>G p.Gln209Glu Missense 7/40 - 1
14-23900993-T-G c.616A>C p.Lys206Gln Missense 7/40 - 1
14-23900996-T-A c.613A>T p.Ser205Cys Missense 7/40 - 1
14-23900998-C-T c.611G>A p.Arg204His Missense 7/40 - 6
14-23900999-G-A c.610C>T p.Arg204Cys Missense 7/40 - 2
14-23901007-A-G c.602T>C p.Ile201Thr Missense 7/40 - 5
14-23901010-G-A c.599C>T p.Ala200Val Missense 7/40 - 5
14-23901011-C-T c.598G>A p.Ala200Thr Missense 7/40 - 4
14-23901011-C-G c.598G>C p.Ala200Pro Missense 7/40 - 1
14-23901012-T-G c.597A>C p.Ala199Ala Synonymous 7/40 - 3
14-23901012-T-A c.597A>T p.Ala199Ala Synonymous 7/40 - 3
14-23901012-T-C c.597A>G p.Ala199Ala Synonymous 7/40 - 3
14-23901013-G-A c.596C>T p.Ala199Val Missense 7/40 - 1
14-23901031-T-C c.578A>G p.Gln193Arg Missense 7/40 - 1
14-23901034-A-G c.575T>C p.Ile192Thr Missense 7/40 - 1
14-23901039-CCT-CAT c.569delinsT p.Arg190Met Missense 7/40 - 1
14-23901046-G-T c.563C>A p.Thr188Asn Missense 7/40 - 1
14-23901050-T-TT c.560dup p.Asn187Lysfs*106 Frameshift 7/40 - 1
14-23901059-TT-T c.551del p.Lys184Argfs*80 Frameshift 7/40 - 1
14-23901068-C-G c.541G>C p.Gly181Arg Missense 7/40 - 1
14-23901068-C-T c.541G>A p.Gly181Arg Missense 7/40 - 1
14-23901077-C-T c.532G>A p.Gly178Arg Missense 7/40 - 1
14-23901077-C-G c.532G>C p.Gly178Arg Missense 7/40 - 1
14-23901688-G-C c.530C>G p.Thr177Ser Missense 6/40 - 1
14-23901688-G-A c.530C>T p.Thr177Ile Missense 6/40 - 1
14-23901710-C-T c.508G>A p.Glu170Lys Missense 6/40 - 2
14-23901713-T-C c.505A>G p.Arg169Gly Missense 6/40 - 1
14-23901862-T-G c.488A>C p.Gln163Pro Missense 5/40 - 3
14-23901865-T-C c.485A>G p.Tyr162Cys Missense 5/40 - 1
14-23901869-C-G c.481G>C p.Ala161Pro Missense 5/40 - 1
14-23901896-GG-G c.457del p.His153Thrfs*14 Frameshift 5/40 - 1
14-23901912-C-A c.438G>T p.Lys146Asn Missense 5/40 - 3
14-23901919-C-A c.431G>T p.Gly144Val Missense 5/40 - 1
14-23901922-C-T c.428G>A p.Arg143Gln Missense 5/40 - 3
14-23901923-G-A c.427C>T p.Arg143Trp Missense 5/40 - 1
14-23901923-G-C c.427C>G p.Arg143Gly Missense 5/40 - 1
14-23901935-C-A c.415G>T p.Val139Leu Missense 5/40 - 2
14-23901950-A-G c.400T>C p.Tyr134His Missense 5/40 - 1
14-23901953-C-T c.397G>A p.Val133Met Missense 5/40 - 1
14-23902003-GT-GG c.346delinsC p.Thr116Pro Missense 5/40 - 1
14-23902293-G-A c.345C>T p.Tyr115Tyr Synonymous 4/40 - 1
14-23902293-G-C c.345C>G p.Tyr115* Nonsense 4/40 - 1
14-23902295-A-G c.343T>C p.Tyr115His Missense 4/40 - 2
14-23902313-TA-T c.325del p.Tyr109Thrfs*5 Frameshift 4/40 - 1
14-23902317-A-T c.321T>A p.Asp107Glu Missense 4/40 - 1
14-23902317-A-C c.321T>G p.Asp107Glu Missense 4/40 - 1
14-23902394-G-A c.244C>T p.Pro82Ser Missense 4/40 - 2
14-23902403-G-C c.235C>G p.Gln79Glu Missense 4/40 - 1
14-23902753-G-A c.189C>T p.Thr63Thr Synonymous 3/40 - 6
14-23902758-C-G c.184G>C p.Glu62Gln Missense 3/40 - 1
14-23902760-GC-TG c.181_182delinsCA p.Ala61His Missense 3/40 - 1
14-23902764-T-C c.178A>G p.Thr60Ala Missense 3/40 - 1
14-23902772-C-A c.170G>T p.Gly57Val Missense 3/40 - 1
14-23902773-C-G c.169G>C p.Gly57Arg Missense 3/40 - 1
14-23902781-C-A c.161G>T p.Arg54Leu Missense 3/40 - 1
14-23902781-C-T c.161G>A p.Arg54Gln Missense 3/40 - 1
14-23902793-T-C c.149A>G p.Lys50Arg Missense 3/40 - 1
14-23902799-T-C c.143A>G p.Lys48Arg Missense 3/40 - 1
14-23902806-A-G c.136T>C p.Phe46Leu Missense 3/40 - 2
14-23902821-C-T c.121G>A p.Asp41Asn Missense 3/40 - 1
14-23902827-C-T c.115G>A p.Val39Met Missense 3/40 - 1
14-23902865-G-A c.77C>T p.Ala26Val Missense 3/40 - 7
14-23902875-G-A c.67C>T p.Arg23Trp Missense 3/40 - 1
14-23902878-C-T c.64G>A p.Glu22Lys Missense 3/40 - 2
14-23902893-G-A c.49C>T p.Arg17Cys Missense 3/40 - 2
14-23902905-C-T c.37G>A p.Ala13Thr Missense 3/40 - 1
14-23902907-G-A c.35C>T p.Ala12Val Missense 3/40 - 1
14-23902934-T-G c.8A>C p.Asp3Ala Missense 3/40 - 1
14-23902940-A-AG c.1_2insC p.Met1? CdsStartInsertion 3/40 - 1
14-23902974-C-G c.-8-25G>C - IntronicSNV - 2/39 1
14-23902974-C-A c.-8-25G>T - IntronicSNV - 2/39 1
14-23902974-C-T c.-8-25G>A - IntronicSNV - 2/39 1
14-23903380-A-G c.-9+23T>C - intron_variant - 2/39 1