LRP6 LDL receptor related protein 6

Canonical transcript: NM_002336

436 unique variant annotations were identified in 258 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
12-12269960-G-A c.*4100C>T - 3-UTRSNV 23/23 - 2
12-12270290-A-G c.*3770T>C - 3-UTRSNV 23/23 - 1
12-12271739-T-C c.*2321A>G - 3-UTRSNV 23/23 - 1
12-12272466-C-G c.*1594G>C - 3-UTRSNV 23/23 - 3
12-12272473-T-C c.*1587A>G - 3-UTRSNV 23/23 - 1
12-12274068-A-C c.4834T>G p.Ser1612Ala Missense 23/23 - 1
12-12274080-G-A c.4822C>T p.Pro1608Ser Missense 23/23 - 1
12-12274083-A-C c.4819T>G p.Ser1607Ala Missense 23/23 - 1
12-12274102-G-C c.4800C>G p.His1600Gln Missense 23/23 - 1
12-12274110-A-C c.4792T>G p.Ser1598Ala Missense 23/23 - 2
12-12274115-CT-GC c.4786_4787delinsGC p.Ser1596Ala Missense 23/23 - 1
12-12274127-TA-GC c.4774_4775delinsGC p.Tyr1592Ala Missense 23/23 - 1
12-12274145-CT-GC c.4756_4757delinsGC p.Ser1586Ala Missense 23/23 - 1
12-12274167-A-C c.4735T>G p.Ser1579Ala Missense 23/23 - 1
12-12274178-CT-GC c.4723_4724delinsGC p.Ser1575Ala Missense 23/23 - 1
12-12274181-C-A c.4721G>T p.Arg1574Leu Missense 23/23 - 2
12-12274212-A-C c.4690T>G p.Ser1564Ala Missense 23/23 - 1
12-12274280-T-C c.4622A>G p.Tyr1541Cys Missense 23/23 - 1
12-12274308-CA-C c.4594del p.Cys1532Alafs*16 Frameshift 23/23 - 1
12-12274311-G-C c.4591C>G p.Pro1531Ala Missense 23/23 - 1
12-12274314-T-C c.4588A>G p.Thr1530Ala Missense 23/23 - 1
12-12274317-T-C c.4585A>G p.Thr1529Ala Missense 23/23 - 1
12-12274334-C-T c.4568G>A p.Arg1523Gln Missense 23/23 - 1
12-12274337-TA-GC c.4564_4565delinsGC p.Tyr1522Ala Missense 23/23 - 2
12-12274935-T-C c.4548-581A>G - IntronicSNV - 22/22 8
12-12276378-G-A c.4547+1121C>T - IntronicSNV - 22/22 1
12-12277082-C-T c.4547+417G>A - IntronicSNV - 22/22 1
12-12277521-G-A c.4525C>T p.Pro1509Ser Missense 22/23 - 1
12-12277521-G-C c.4525C>G p.Pro1509Ala Missense 22/23 - 1
12-12277562-C-T c.4484G>A p.Arg1495Gln Missense 22/23 - 1
12-12277575-G-C c.4471C>G p.Pro1491Ala Missense 22/23 - 1
12-12277578-A-C c.4468T>G p.Ser1490Ala Missense 22/23 - 3
12-12277578-A-G c.4468T>C p.Ser1490Pro Missense 22/23 - 3
12-12277578-A-T c.4468T>A p.Ser1490Thr Missense 22/23 - 1
12-12277584-G-C c.4462C>G p.Pro1488Ala Missense 22/23 - 1
12-12277586-GG-TG c.4460delinsA p.Pro1487His Missense 22/23 - 1
12-12277587-G-C c.4459C>G p.Pro1487Ala Missense 22/23 - 1
12-12277589-TT-GC c.4456_4457delinsGC p.Asn1486Ala Missense 22/23 - 1
12-12277847-T-G c.4450-251A>C - IntronicSNV - 21/22 1
12-12278234-G-A c.4445C>T p.Pro1482Leu Missense 21/23 - 2
12-12278243-G-A c.4436C>T p.Thr1479Ile Missense 21/23 - 2
12-12278244-T-G c.4435A>C p.Thr1479Pro Missense 21/23 - 1
12-12278309-C-A c.4370G>T p.Gly1457Val Missense 21/23 - 1
12-12278335-G-A c.4344C>T p.Ser1448Ser Synonymous 21/23 - 1
12-12278356-TCG-TGT c.4321_4322delinsAC p.Arg1441Thr Missense 21/23 - 1
12-12278358-G-C c.4321C>G p.Arg1441Gly Missense 21/23 - 2
12-12278468-A-T c.4313-102T>A - IntronicSNV - 20/22 2
12-12279361-G-A c.4312+264C>T - IntronicSNV - 20/22 1
12-12279395-T-C c.4312+230A>G - IntronicSNV - 20/22 1
12-12279639-G-A c.4298C>T p.Ser1433Leu Missense 20/23 - 1
12-12279642-A-G c.4295T>C p.Leu1432Ser Missense 20/23 - 1
12-12279694-C-A c.4243G>T p.Val1415Phe Missense 20/23 - 1
12-12279723-T-A c.4214A>T p.Asp1405Val Missense 20/23 - 1
12-12279729-T-C c.4208A>G p.Lys1403Arg Missense 20/23 - 1
12-12279735-C-T c.4202G>A p.Arg1401His Missense 20/23 - 1
12-12279741-CA-GC c.4195_4196delinsGC p.Cys1399Ala Missense 20/23 - 1
12-12279756-CA-GC c.4180_4181delinsGC p.Cys1394Ala Missense 20/23 - 1
12-12279780-A-C c.4157T>G p.Val1386Gly Missense 20/23 - 1
12-12279781-C-A c.4156G>T p.Val1386Leu Missense 20/23 - 3
12-12279781-C-G c.4156G>C p.Val1386Leu Missense 20/23 - 3
12-12279793-C-A c.4144G>T p.Val1382Phe Missense 20/23 - 3
12-12279799-C-A c.4138G>T p.Val1380Leu Missense 20/23 - 1
12-12279799-C-T c.4138G>A p.Val1380Ile Missense 20/23 - 1
12-12279801-C-T c.4136G>A p.Gly1379Asp Missense 20/23 - 1
12-12279829-C-T c.4108G>A p.Ala1370Thr Missense 20/23 - 1
12-12279857-T-C c.4082-2A>G - IntronicSNV - 19/22 2
12-12280310-G-A c.4082-455C>T - IntronicSNV - 19/22 1
12-12280580-G-GAGGC c.4082-726_4082-725insGCCT - IntronicInsertion - 19/22 1
12-12280580-G-GGC c.4082-726_4082-725insGC - IntronicInsertion - 19/22 1
12-12280952-G-A c.4082-1097C>T - IntronicSNV - 19/22 1
12-12281006-C-T c.4082-1151G>A - IntronicSNV - 19/22 1
12-12283731-T-C c.4067A>G p.Asp1356Gly Missense 19/23 - 1
12-12283731-T-G c.4067A>C p.Asp1356Ala Missense 19/23 - 1
12-12283747-A-C c.4051T>G p.Cys1351Gly Missense 19/23 - 1
12-12283783-T-G c.4015A>C p.Ile1339Leu Missense 19/23 - 1
12-12283804-G-A c.3994C>T p.Arg1332Cys Missense 19/23 - 1
12-12283813-TCAAT-T c.3984_3987del p.Asp1329Serfs*51 Frameshift 19/23 - 1
12-12284590-G-A c.3970+165C>T - IntronicSNV - 18/22 3
12-12284768-C-A c.3957G>T p.Glu1319Asp Missense 18/23 - 1
12-12284768-C-G c.3957G>C p.Glu1319Asp Missense 18/23 - 1
12-12284770-C-T c.3955G>A p.Glu1319Lys Missense 18/23 - 1
12-12284776-A-G c.3949T>C p.Ser1317Pro Missense 18/23 - 1
12-12284782-C-T c.3943G>A p.Asp1315Asn Missense 18/23 - 1
12-12284815-C-T c.3910G>A p.Ala1304Thr Missense 18/23 - 1
12-12284821-C-T c.3904G>A p.Asp1302Asn Missense 18/23 - 1
12-12284862-C-T c.3863G>A p.Cys1288Tyr Missense 18/23 - 1
12-12284915-G-A c.3810C>T p.Cys1270Cys Synonymous 18/23 - 11
12-12284922-C-A c.3803G>T p.Trp1268Leu Missense 18/23 - 1
12-12284935-T-C c.3790A>G p.Ile1264Val Missense 18/23 - 3
12-12287821-T-A c.3733+288A>T - IntronicSNV - 17/22 1
12-12287821-T-C c.3733+288A>G - IntronicSNV - 17/22 1
12-12288162-C-T c.3680G>A p.Arg1227Lys Missense 17/23 - 1
12-12288225-G-A c.3617C>T p.Pro1206Leu Missense 17/23 - 1
12-12288225-G-T c.3617C>A p.Pro1206His Missense 17/23 - 3
12-12288226-G-C c.3616C>G p.Pro1206Ala Missense 17/23 - 1
12-12289156-T-C c.3608-922A>G - IntronicSNV - 16/22 3
12-12290000-T-A c.3607+1259A>T - IntronicSNV - 16/22 1
12-12290000-T-C c.3607+1259A>G - IntronicSNV - 16/22 1
12-12291281-C-T c.3585G>A p.Lys1195Lys Synonymous 16/23 - 1
12-12291315-CG-GC c.3550_3551delinsGC p.Arg1184Ala Missense 16/23 - 1
12-12291339-T-G c.3527A>C p.Glu1176Ala Missense 16/23 - 1
12-12291423-A-G c.3443T>C p.Val1148Ala Missense 16/23 - 1
12-12291470-T-G c.3398-2A>C - IntronicSNV - 15/22 2
12-12291479-G-A c.3398-11C>T - IntronicSNV - 15/22 13
12-12291479-G-C c.3398-11C>G - IntronicSNV - 15/22 13
12-12291638-C-T c.3398-170G>A - IntronicSNV - 15/22 4
12-12293638-C-G c.3398-2170G>C - IntronicSNV - 15/22 2
12-12293638-C-T c.3398-2170G>A - IntronicSNV - 15/22 2
12-12296956-G-A c.3397+3344C>T - IntronicSNV - 15/22 1
12-12297976-T-A c.3397+2324A>T - IntronicSNV - 15/22 1
12-12297976-T-C c.3397+2324A>G - IntronicSNV - 15/22 1
12-12298710-T-C c.3397+1590A>G - IntronicSNV - 15/22 1
12-12299769-G-A c.3397+531C>T - IntronicSNV - 15/22 9
12-12300169-C-T c.3397+131G>A - IntronicSNV - 15/22 2
12-12300324-G-A c.3373C>T p.Arg1125* Nonsense 15/23 - 1
12-12300332-T-G c.3365A>C p.Asp1122Ala Missense 15/23 - 1
12-12300446-T-G c.3251A>C p.Glu1084Ala Missense 15/23 - 1
12-12300602-A-C c.3207-112T>G - IntronicSNV - 14/22 1
12-12301494-C-T c.3206+382G>A - IntronicSNV - 14/22 1
12-12301886-G-T c.3196C>A p.Pro1066Thr Missense 14/23 - 3
12-12301898-C-T c.3184G>A p.Val1062Ile Missense 14/23 - 36
12-12301951-T-A c.3131A>T p.Asp1044Val Missense 14/23 - 1
12-12302006-G-A c.3076C>T p.Arg1026Cys Missense 14/23 - 1
12-12302087-C-G c.2995G>C p.Gly999Arg Missense 14/23 - 1
12-12302422-C-A c.2995-335G>T - IntronicSNV - 13/22 2
12-12302422-C-T c.2995-335G>A - IntronicSNV - 13/22 2
12-12302884-A-G c.2995-797T>C - IntronicSNV - 13/22 1
12-12303769-C-T c.2994+1G>A - IntronicSNV - 13/22 1
12-12303783-T-TT c.2982dup p.Asp995Argfs*24 Frameshift 13/23 - 1
12-12303837-T-C c.2927A>G p.Asp976Gly Missense 13/23 - 1
12-12303861-C-T c.2903G>A p.Arg968Gln Missense 13/23 - 1
12-12303899-G-A c.2865C>T p.Pro955Pro Synonymous 13/23 - 1
12-12303927-CG-GC c.2836_2837delinsGC p.Arg946Ala Missense 13/23 - 1
12-12303966-G-A c.2798C>T p.Thr933Met Missense 13/23 - 1
12-12305396-A-T c.2792-1424T>A - IntronicSNV - 12/22 1
12-12307201-G-GA c.2792-3230_2792-3229insT - IntronicInsertion - 12/22 1
12-12307644-G-A c.2792-3672C>T - IntronicSNV - 12/22 2
12-12308011-A-T c.2791+3752T>A - IntronicSNV - 12/22 1
12-12308013-T-A c.2791+3750A>T - IntronicSNV - 12/22 1
12-12308013-T-C c.2791+3750A>G - IntronicSNV - 12/22 1
12-12309096-T-C c.2791+2667A>G - IntronicSNV - 12/22 1
12-12309687-C-T c.2791+2076G>A - IntronicSNV - 12/22 3
12-12311367-A-C c.2791+396T>G - IntronicSNV - 12/22 1
12-12311799-G-C c.2755C>G p.His919Asp Missense 12/23 - 1
12-12311815-A-C c.2739T>G p.Val913Val Synonymous 12/23 - 1
12-12311896-TCG-TGG c.2657delinsC p.Arg886Pro Missense 12/23 - 1
12-12311913-C-T c.2641G>A p.Val881Ile Missense 12/23 - 1
12-12311924-AT-GC c.2629_2630delinsGC p.Met877Ala Missense 12/23 - 1
12-12311930-TA-GC c.2623_2624delinsGC p.Tyr875Ala Missense 12/23 - 1
12-12311955-T-C c.2599A>G p.Thr867Ala Missense 12/23 - 3
12-12311959-GTT-CAA c.2593_2595delinsTTG p.Asn865Leu Missense 12/23 - 1
12-12311984-C-T c.2570G>A p.Arg857His Missense 12/23 - 1
12-12312053-TG-GC c.2500_2501delinsGC p.His834Ala Missense 12/23 - 1
12-12312728-G-C c.2450C>G p.Ser817Cys Missense 11/23 - 4
12-12312740-TT-GC c.2437_2438delinsGC p.Asn813Ala Missense 11/23 - 1
12-12312745-GTC-AAG c.2431_2433delinsCTT p.Asp811Leu Missense 11/23 - 1
12-12312810-C-T c.2368G>A p.Val790Met Missense 11/23 - 1
12-12312812-T-C c.2366A>G p.Asn789Ser Missense 11/23 - 3
12-12312849-C-G c.2329G>C p.Ala777Pro Missense 11/23 - 1
12-12312854-C-T c.2324G>A p.Arg775Lys Missense 11/23 - 1
12-12312875-C-A c.2303G>T p.Gly768Val Missense 11/23 - 1
12-12312877-C-T c.2301G>A p.Trp767* Nonsense 11/23 - 1
12-12312878-CA-GC c.2299_2300delinsGC p.Trp767Ala Missense 11/23 - 1
12-12312886-C-T c.2292G>A p.Trp764* Nonsense 11/23 - 1
12-12314602-G-A c.2279+525C>T - IntronicSNV - 10/22 1
12-12315191-G-C c.2215C>G p.Arg739Gly Missense 10/23 - 1
12-12315203-C-T c.2203G>A p.Asp735Asn Missense 10/23 - 1
12-12315223-CG-GC c.2182_2183delinsGC p.Arg728Ala Missense 10/23 - 1
12-12315228-C-T c.2178G>A p.Thr726Thr Synonymous 10/23 - 1
12-12315238-TC-CG c.2167_2168delinsCG p.Asp723Arg Missense 10/23 - 1
12-12315283-T-G c.2123A>C p.Glu708Ala Missense 10/23 - 1
12-12315284-C-T c.2122G>A p.Glu708Lys Missense 10/23 - 1
12-12315289-TA-GC c.2116_2117delinsGC p.Tyr706Ala Missense 10/23 - 1
12-12315310-A-C c.2096T>G p.Val699Gly Missense 10/23 - 1
12-12315348-G-C c.2058C>G p.Ile686Met Missense 10/23 - 1
12-12315857-T-C c.2053-504A>G - IntronicSNV - 9/22 1
12-12315880-T-G c.2053-527A>C - IntronicSNV - 9/22 2
12-12316922-G-T c.2052+285C>A - IntronicSNV - 9/22 1
12-12317217-A-C c.2042T>G p.Ile681Arg Missense 9/23 - 1
12-12317271-T-G c.1988A>C p.Glu663Ala Missense 9/23 - 1
12-12317322-G-C c.1937C>G p.Ser646Cys Missense 9/23 - 1
12-12317328-CG-GC c.1930_1931delinsGC p.Arg644Ala Missense 9/23 - 1
12-12317331-CT-GC c.1927_1928delinsGC p.Arg643Ala Missense 9/23 - 1
12-12317383-T-C c.1876A>G p.Thr626Ala Missense 9/23 - 1
12-12317387-C-G c.1872G>C p.Met624Ile Missense 9/23 - 1
12-12317428-G-A c.1831C>T p.Arg611Cys Missense 9/23 - 41
12-12317480-A-AA c.1779dup p.Glu594* Nonsense 9/23 - 3
12-12317901-A-G c.1762+112T>C - IntronicSNV - 8/22 1
12-12318021-CG-AC c.1753_1754delinsGT p.Arg585Val Missense 8/23 - 1
12-12318030-T-C c.1745A>G p.Asn582Ser Missense 8/23 - 1
12-12318074-CA-AC c.1700_1701delinsGT p.Val567Gly Missense 8/23 - 1
12-12318094-G-A c.1681C>T p.Arg561* Nonsense 8/23 - 1
12-12318095-TT-TG c.1679delinsC p.Lys560Thr Missense 8/23 - 1
12-12318129-T-C c.1646A>G p.Asp549Gly Missense 8/23 - 2
12-12318132-G-A c.1643C>T p.Thr548Ile Missense 8/23 - 1
12-12318144-T-C c.1631A>G p.Tyr544Cys Missense 8/23 - 2
12-12318150-C-T c.1625G>A p.Gly542Asp Missense 8/23 - 1
12-12318155-C-A c.1620G>T p.Leu540Phe Missense 8/23 - 1
12-12318166-C-T c.1609G>A p.Gly537Arg Missense 8/23 - 2
12-12318210-G-C c.1565C>G p.Thr522Ser Missense 8/23 - 1
12-12318211-T-A c.1564A>T p.Thr522Ser Missense 8/23 - 1
12-12318383-A-G c.1546-154T>C - IntronicSNV - 7/22 1
12-12319936-A-G c.1546-1707T>C - IntronicSNV - 7/22 1
12-12321181-A-C c.1546-2952T>G - IntronicSNV - 7/22 2
12-12321927-C-A c.1546-3698G>T - IntronicSNV - 7/22 1
12-12323618-C-G c.1546-5389G>C - IntronicSNV - 7/22 4
12-12323618-C-T c.1546-5389G>A - IntronicSNV - 7/22 4
12-12324184-C-G c.1546-5955G>C - IntronicSNV - 7/22 1
12-12324184-C-T c.1546-5955G>A - IntronicSNV - 7/22 1
12-12324841-A-G c.1546-6612T>C - IntronicSNV - 7/22 2
12-12326568-C-T c.1545+6176G>A - IntronicSNV - 7/22 1
12-12326654-A-C c.1545+6090T>G - IntronicSNV - 7/22 1
12-12326654-A-T c.1545+6090T>A - IntronicSNV - 7/22 1
12-12327121-C-G c.1545+5623G>C - IntronicSNV - 7/22 1
12-12327655-T-C c.1545+5089A>G - IntronicSNV - 7/22 2
12-12328764-T-C c.1545+3980A>G - IntronicSNV - 7/22 1
12-12328764-T-G c.1545+3980A>C - IntronicSNV - 7/22 1
12-12329686-T-A c.1545+3058A>T - IntronicSNV - 7/22 2
12-12330179-G-A c.1545+2565C>T - IntronicSNV - 7/22 1
12-12330179-G-C c.1545+2565C>G - IntronicSNV - 7/22 1
12-12331327-C-T c.1545+1417G>A - IntronicSNV - 7/22 1
12-12331375-C-A c.1545+1369G>T - IntronicSNV - 7/22 6
12-12331375-C-T c.1545+1369G>A - IntronicSNV - 7/22 6
12-12331538-A-G c.1545+1206T>C - IntronicSNV - 7/22 1
12-12332196-C-T c.1545+548G>A - IntronicSNV - 7/22 10
12-12332770-C-A c.1519G>T p.Gly507* Nonsense 7/23 - 1
12-12332808-C-T c.1481G>A p.Gly494Asp Missense 7/23 - 5
12-12332826-G-T c.1463C>A p.Ser488Tyr Missense 7/23 - 3
12-12332831-GTT-CAA c.1456_1458delinsTTG p.Asn486Leu Missense 7/23 - 1
12-12332832-T-C c.1457A>G p.Asn486Ser Missense 7/23 - 1
12-12332842-C-A c.1447G>T p.Val483Leu Missense 7/23 - 4
12-12332842-C-T c.1447G>A p.Val483Ile Missense 7/23 - 4
12-12332857-C-T c.1432G>A p.Gly478Ser Missense 7/23 - 1
12-12332871-C-T c.1418G>A p.Arg473Gln Missense 7/23 - 6
12-12332883-G-A c.1406C>T p.Pro469Leu Missense 7/23 - 2
12-12333352-C-T c.1374-437G>A - IntronicSNV - 6/22 7
12-12334004-CG-GC c.1345_1346delinsGC p.Arg449Ala Missense 6/23 - 1
12-12334006-G-C c.1344C>G p.Pro448Pro Synonymous 6/23 - 4
12-12334006-G-T c.1344C>A p.Pro448Pro Synonymous 6/23 - 4
12-12334028-A-AA c.1324dup p.Ser442Phefs*23 Frameshift 6/23 - 1
12-12334037-T-A c.1313A>T p.Lys438Met Missense 6/23 - 2
12-12334037-T-C c.1313A>G p.Lys438Arg Missense 6/23 - 1
12-12334051-ATT-CAA c.1297_1299delinsTTG p.Asn433Leu Missense 6/23 - 1
12-12334052-T-C c.1298A>G p.Asn433Ser Missense 6/23 - 7
12-12334055-AG-GG c.1295delinsC p.Leu432Pro Missense 6/23 - 1
12-12334073-CG-GC c.1276_1277delinsGC p.Arg426Ala Missense 6/23 - 2
12-12334075-ATC-AAG c.1273_1274delinsCT p.Asp425Leu Missense 6/23 - 1
12-12334076-T-G c.1274A>C p.Asp425Ala Missense 6/23 - 1
12-12334098-A-G c.1252T>C p.Tyr418His Missense 6/23 - 2
12-12334138-ATG-AAG c.1211delinsT p.His404Leu Missense 6/23 - 1
12-12334193-CG-GC c.1156_1157delinsGC p.Arg386Ala Missense 6/23 - 1
12-12334194-G-A c.1156C>T p.Arg386Cys Missense 6/23 - 1
12-12334198-T-C c.1152A>G p.Ile384Met Missense 6/23 - 1
12-12334232-T-C c.1118A>G p.Tyr373Cys Missense 6/23 - 2
12-12334248-C-T c.1102G>A p.Asp368Asn Missense 6/23 - 1
12-12334251-A-T c.1099T>A p.Tyr367Asn Missense 6/23 - 1
12-12334255-T-TT c.1095dup p.Asp366Argfs*13 Frameshift 6/23 - 1
12-12334270-ACG-TGA c.1078_1080delinsTCA p.Arg360Ser Nonsense 6/23 - 1
12-12334271-C-T c.1079G>A p.Arg360His Missense 6/23 - 6
12-12334281-C-T c.1069G>A p.Glu357Lys Missense 6/23 - 1
12-12334284-A-G c.1066T>C p.Leu356Leu Synonymous 6/23 - 1
12-12334304-AA-GC c.1045_1046delinsGC p.Phe349Ala Missense 6/23 - 1
12-12334304-A-T c.1046T>A p.Phe349Tyr Missense 6/23 - 1
12-12334319-A-G c.1031T>C p.Leu344Ser Missense 6/23 - 1
12-12334328-CG-GC c.1021_1022delinsGC p.Arg341Ala Missense 6/23 - 1
12-12334331-CT-GC c.1018_1019delinsGC p.Arg340Ala Missense 6/23 - 1
12-12334346-C-A c.1004G>T p.Arg335Leu Missense 6/23 - 1
12-12336914-C-A c.976G>T p.Gly326Cys Missense 5/23 - 1
12-12336916-T-G c.974A>C p.Asp325Ala Missense 5/23 - 1
12-12336958-G-A c.932C>T p.Pro311Leu Missense 5/23 - 1
12-12336966-A-G c.924T>C p.Cys308Cys Synonymous 5/23 - 2
12-12336974-A-G c.916T>C p.Tyr306His Missense 5/23 - 3
12-12337006-T-C c.884A>G p.His295Arg Missense 5/23 - 4
12-12337023-G-A c.867C>T p.Asp289Asp Synonymous 5/23 - 2
12-12337061-C-T c.845-16G>A - IntronicSNV - 4/22 1
12-12337813-T-A c.845-768A>T - IntronicSNV - 4/22 2
12-12337813-T-C c.845-768A>G - IntronicSNV - 4/22 2
12-12338554-A-G c.844+1303T>C - IntronicSNV - 4/22 1
12-12339624-T-G c.844+233A>C - IntronicSNV - 4/22 1
12-12339924-ACG-GAG c.776_777delinsTC p.Arg259Leu Missense 4/23 - 1
12-12339925-C-T c.776G>A p.Arg259His Missense 4/23 - 1
12-12339946-TT-GC c.754_755delinsGC p.Lys252Ala Missense 4/23 - 3
12-12339976-C-A c.725G>T p.Trp242Leu Missense 4/23 - 1
12-12339985-C-A c.716G>T p.Trp239Leu Missense 4/23 - 3
12-12339991-AA-GC c.709_710delinsGC p.Leu237Ala Missense 4/23 - 1
12-12339997-T-C c.704A>G p.Asp235Gly Missense 4/23 - 1
12-12340016-C-T c.685G>A p.Ala229Thr Missense 4/23 - 1
12-12340025-G-A c.676C>T p.His226Tyr Missense 4/23 - 1
12-12340034-A-C c.667T>G p.Ser223Ala Missense 4/23 - 1
12-12342230-A-G c.648-2177T>C - IntronicSNV - 3/22 2
12-12342594-C-A c.648-2541G>T - IntronicSNV - 3/22 1
12-12345705-G-A c.648-5652C>T - IntronicSNV - 3/22 1
12-12345893-A-G c.648-5840T>C - IntronicSNV - 3/22 1
12-12347909-C-T c.648-7856G>A - IntronicSNV - 3/22 1
12-12348899-G-A c.647+7238C>T - IntronicSNV - 3/22 1
12-12348899-G-C c.647+7238C>G - IntronicSNV - 3/22 1
12-12350113-G-A c.647+6024C>T - IntronicSNV - 3/22 6
12-12350113-G-C c.647+6024C>G - IntronicSNV - 3/22 6
12-12352066-A-G c.647+4071T>C - IntronicSNV - 3/22 1
12-12352066-A-T c.647+4071T>A - IntronicSNV - 3/22 1
12-12354407-C-T c.647+1730G>A - IntronicSNV - 3/22 1
12-12356157-TG-GT c.626_627delinsAC p.Ser209Tyr Missense 3/23 - 1
12-12356158-GA-CA c.626delinsG p.Ser209* Missense 3/23 - 1
12-12356158-GA-GG c.625delinsC p.Ser209Pro Missense 3/23 - 1
12-12356159-A-C c.625T>G p.Ser209Ala Missense 3/23 - 6
12-12356159-A-T c.625T>A p.Ser209Thr Missense 3/23 - 1
12-12356165-G-A c.619C>T p.His207Tyr Missense 3/23 - 1
12-12356182-G-A c.602C>T p.Ala201Val Missense 3/23 - 1
12-12356185-T-C c.599A>G p.Asp200Gly Missense 3/23 - 1
12-12356192-A-G c.592T>C p.Trp198Arg Missense 3/23 - 1
12-12356230-T-C c.554A>G p.Asn185Ser Missense 3/23 - 1
12-12356230-TT-GC c.553_554delinsGC p.Asn185Ala Missense 3/23 - 1
12-12356263-A-T c.521T>A p.Phe174Tyr Missense 3/23 - 1
12-12356267-G-C c.517C>G p.Arg173Gly Missense 3/23 - 2
12-12356273-A-C c.511T>G p.Ser171Ala Missense 3/23 - 1
12-12356275-C-A c.509G>T p.Gly170Val Missense 3/23 - 1
12-12356311-C-A c.473G>T p.Gly158Val Missense 3/23 - 7
12-12356317-GT-G c.467del p.Asp156Alafs*8 Frameshift 3/23 - 1
12-12356900-A-G c.450-566T>C - IntronicSNV - 2/22 4
12-12358524-C-A c.450-2190G>T - IntronicSNV - 2/22 1
12-12358953-G-A c.450-2619C>T - IntronicSNV - 2/22 1
12-12361919-G-A c.450-5585C>T - IntronicSNV - 2/22 2
12-12362440-C-T c.450-6106G>A - IntronicSNV - 2/22 2
12-12362624-A-G c.450-6290T>C - IntronicSNV - 2/22 1
12-12364268-T-A c.450-7934A>T - IntronicSNV - 2/22 1
12-12364268-T-C c.450-7934A>G - IntronicSNV - 2/22 1
12-12364269-G-A c.450-7935C>T - IntronicSNV - 2/22 1
12-12364269-G-C c.450-7935C>G - IntronicSNV - 2/22 1
12-12364270-G-A c.450-7936C>T - IntronicSNV - 2/22 1
12-12364411-T-C c.450-8077A>G - IntronicSNV - 2/22 1
12-12365325-A-G c.450-8991T>C - IntronicSNV - 2/22 6
12-12365529-A-G c.450-9195T>C - IntronicSNV - 2/22 1
12-12366782-C-T c.450-10448G>A - IntronicSNV - 2/22 1
12-12367420-A-C c.450-11086T>G - IntronicSNV - 2/22 1
12-12367588-T-G c.450-11254A>C - IntronicSNV - 2/22 4
12-12371329-T-C c.450-14995A>G - IntronicSNV - 2/22 1
12-12371763-C-A c.450-15429G>T - IntronicSNV - 2/22 1
12-12376465-A-G c.450-20131T>C - IntronicSNV - 2/22 4
12-12378065-G-A c.449+19131C>T - IntronicSNV - 2/22 1
12-12378065-G-C c.449+19131C>G - IntronicSNV - 2/22 1
12-12378126-G-A c.449+19070C>T - IntronicSNV - 2/22 1
12-12379293-G-A c.449+17903C>T - IntronicSNV - 2/22 1
12-12379293-G-C c.449+17903C>G - IntronicSNV - 2/22 1
12-12380399-C-A c.449+16797G>T - IntronicSNV - 2/22 1
12-12380399-C-T c.449+16797G>A - IntronicSNV - 2/22 1
12-12381094-C-T c.449+16102G>A - IntronicSNV - 2/22 1
12-12383206-T-C c.449+13990A>G - IntronicSNV - 2/22 1
12-12386549-A-G c.449+10647T>C - IntronicSNV - 2/22 1
12-12386726-T-A c.449+10470A>T - IntronicSNV - 2/22 1
12-12386726-T-C c.449+10470A>G - IntronicSNV - 2/22 1
12-12387981-C-T c.449+9215G>A - IntronicSNV - 2/22 2
12-12388027-T-A c.449+9169A>T - IntronicSNV - 2/22 3
12-12390657-C-G c.449+6539G>C - IntronicSNV - 2/22 1
12-12390657-C-T c.449+6539G>A - IntronicSNV - 2/22 1
12-12392359-C-T c.449+4837G>A - IntronicSNV - 2/22 1
12-12393895-T-C c.449+3301A>G - IntronicSNV - 2/22 1
12-12393911-C-A c.449+3285G>T - IntronicSNV - 2/22 1
12-12393911-C-T c.449+3285G>A - IntronicSNV - 2/22 1
12-12394574-G-A c.449+2622C>T - IntronicSNV - 2/22 6
12-12394574-G-C c.449+2622C>G - IntronicSNV - 2/22 6
12-12394993-C-A c.449+2203G>T - IntronicSNV - 2/22 2
12-12396130-T-C c.449+1066A>G - IntronicSNV - 2/22 3
12-12397199-C-T c.446G>A p.Ser149Asn Missense 2/23 - 1
12-12397218-T-C c.427A>G p.Ile143Val Missense 2/23 - 1
12-12397222-TC-TG c.422delinsC p.Arg141Thr Missense 2/23 - 1
12-12397222-TCT-TGG c.421_422delinsCC p.Arg141Pro Missense 2/23 - 1
12-12397250-AA-GC c.394_395delinsGC p.Leu132Ala Missense 2/23 - 1
12-12397257-T-A c.388A>T p.Lys130* Nonsense 2/23 - 2
12-12397259-CG-GC c.385_386delinsGC p.Arg129Ala Missense 2/23 - 1
12-12397262-AA-GC c.382_383delinsGC p.Leu128Ala Missense 2/23 - 1
12-12397266-A-C c.379T>G p.Ser127Ala Missense 2/23 - 1
12-12397266-A-T c.379T>A p.Ser127Thr Missense 2/23 - 3
12-12397274-A-T c.371T>A p.Leu124* Nonsense 2/23 - 1
12-12397288-AAT-GAG c.355_357delinsCTC p.Ile119Leu Missense 2/23 - 1
12-12397291-CCG-AAC c.352_354delinsGTT p.Arg118Val Missense 2/23 - 1
12-12397292-CG-GC c.352_353delinsGC p.Arg118Ala Missense 2/23 - 3
12-12397292-C-T c.353G>A p.Arg118Gln Missense 2/23 - 1
12-12397293-G-C c.352C>G p.Arg118Gly Missense 2/23 - 1
12-12397326-C-G c.319G>C p.Glu107Gln Missense 2/23 - 1
12-12397353-C-A c.292G>T p.Asp98Tyr Missense 2/23 - 1
12-12397359-A-C c.286T>G p.Ser96Ala Missense 2/23 - 1
12-12397367-C-G c.278G>C p.Gly93Ala Missense 2/23 - 1
12-12397399-T-A c.246A>T p.Lys82Asn Missense 2/23 - 3
12-12397399-T-G c.246A>C p.Lys82Asn Missense 2/23 - 3
12-12397400-T-C c.245A>G p.Lys82Arg Missense 2/23 - 1
12-12397404-T-G c.241A>C p.Asn81His Missense 2/23 - 1
12-12397450-T-TT c.195dup p.Tyr66Ilefs*4 Frameshift 2/23 - 1
12-12397454-AA-CC c.190_191delinsGG p.Leu64Gly Missense 2/23 - 1
12-12397485-C-T c.160G>A p.Ala54Thr Missense 2/23 - 1
12-12397488-C-T c.157G>A p.Ala53Thr Missense 2/23 - 2
12-12397513-CGT-GAC c.130_132delinsGTC p.Thr44Val Missense 2/23 - 1
12-12397515-T-C c.130A>G p.Thr44Ala Missense 2/23 - 2
12-12397530-C-T c.115G>A p.Gly39Ser Missense 2/23 - 1
12-12397535-G-A c.110C>T p.Thr37Ile Missense 2/23 - 1
12-12397550-C-T c.95G>A p.Arg32Gln Missense 2/23 - 1
12-12397553-A-C c.92T>G p.Leu31Trp Missense 2/23 - 1
12-12397568-G-T c.77C>A p.Ala26Glu Missense 2/23 - 1
12-12397585-GG-AG c.60delinsT p.Ala20Ala Missense 2/23 - 1
12-12397589-G-A c.56C>T p.Ala19Val Missense 2/23 - 5
12-12397654-C-G c.56-65G>C - IntronicSNV - 1/22 1
12-12397654-C-T c.56-65G>A - IntronicSNV - 1/22 1
12-12397668-T-A c.56-79A>T - IntronicSNV - 1/22 1
12-12397670-A-G c.56-81T>C - IntronicSNV - 1/22 1
12-12397670-A-T c.56-81T>A - IntronicSNV - 1/22 1
12-12397897-C-G c.56-308G>C - IntronicSNV - 1/22 1
12-12398144-G-A c.56-555C>T - IntronicSNV - 1/22 1
12-12398144-G-C c.56-555C>G - IntronicSNV - 1/22 1
12-12403990-T-A c.56-6401A>T - IntronicSNV - 1/22 1
12-12403990-T-G c.56-6401A>C - IntronicSNV - 1/22 1
12-12404903-C-T c.56-7314G>A - IntronicSNV - 1/22 1
12-12405872-A-G c.56-8283T>C - IntronicSNV - 1/22 2
12-12406412-G-A c.56-8823C>T - IntronicSNV - 1/22 1
12-12406915-C-A c.56-9326G>T - IntronicSNV - 1/22 1
12-12408377-C-G c.56-10788G>C - IntronicSNV - 1/22 1
12-12408377-C-T c.56-10788G>A - IntronicSNV - 1/22 1
12-12410964-G-A c.55+8651C>T - IntronicSNV - 1/22 1
12-12412795-T-A c.55+6820A>T - IntronicSNV - 1/22 8
12-12412795-T-C c.55+6820A>G - IntronicSNV - 1/22 8
12-12412795-T-G c.55+6820A>C - IntronicSNV - 1/22 8
12-12412920-G-A c.55+6695C>T - IntronicSNV - 1/22 1
12-12412920-G-C c.55+6695C>G - IntronicSNV - 1/22 1
12-12413039-G-A c.55+6576C>T - IntronicSNV - 1/22 1
12-12413039-G-C c.55+6576C>G - IntronicSNV - 1/22 1
12-12413815-A-G c.55+5800T>C - IntronicSNV - 1/22 1
12-12414150-C-A c.55+5465G>T - IntronicSNV - 1/22 1
12-12414150-C-G c.55+5465G>C - IntronicSNV - 1/22 1
12-12414150-C-T c.55+5465G>A - IntronicSNV - 1/22 1
12-12415020-T-C c.55+4595A>G - IntronicSNV - 1/22 1
12-12417944-G-A c.55+1671C>T - IntronicSNV - 1/22 1
12-12419525-T-C c.55+90A>G - IntronicSNV - 1/22 1
12-12419635-CT-GC c.34_35delinsGC p.Ser12Ala Missense 1/23 - 6
12-12419636-T-A c.34A>T p.Ser12Cys Missense 1/23 - 4
12-12419662-G-A c.8C>T p.Ala3Val Missense 1/23 - 2
12-12419667-C-T c.3G>A p.Met1? Missense 1/23 - 1
12-12419719-G-A c.-50C>T - 5-UTRSNV 1/23 - 1
12-12419719-G-T c.-50C>A - 5-UTRSNV 1/23 - 1