CD36 CD36 molecule

Canonical transcript: NM_001001547

366 unique variant annotations were identified in 453 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
7-80231908-A-G c.-184+213A>G - intron_variant - 1/13 1
7-80232973-T-A c.-184+1278T>A - intron_variant - 1/13 1
7-80232973-T-C c.-184+1278T>C - intron_variant - 1/13 1
7-80234243-G-A c.-184+2548G>A - intron_variant - 1/13 6
7-80234243-G-T c.-184+2548G>T - intron_variant - 1/13 6
7-80234607-C-T c.-184+2912C>T - intron_variant - 1/13 1
7-80235095-A-G c.-184+3400A>G - intron_variant - 1/13 1
7-80235846-A-G c.-184+4151A>G - intron_variant - 1/13 3
7-80236014-T-G c.-184+4319T>G - intron_variant - 1/13 7
7-80237059-C-T c.-184+5364C>T - intron_variant - 1/13 1
7-80238041-A-C c.-184+6346A>C - intron_variant - 1/13 2
7-80238463-C-T c.-184+6768C>T - intron_variant - 1/13 3
7-80238710-A-G c.-184+7015A>G - intron_variant - 1/13 1
7-80238793-C-T c.-184+7098C>T - intron_variant - 1/13 1
7-80238852-A-G c.-184+7157A>G - intron_variant - 1/13 1
7-80238852-A-T c.-184+7157A>T - intron_variant - 1/13 1
7-80239418-T-C c.-184+7723T>C - intron_variant - 1/13 6
7-80240689-T-C c.-184+8994T>C - intron_variant - 1/13 3
7-80241579-A-T c.-184+9884A>T - intron_variant - 1/13 2
7-80241874-A-C c.-184+10179A>C - intron_variant - 1/13 1
7-80241874-A-T c.-184+10179A>T - intron_variant - 1/13 1
7-80242079-T-C c.-184+10384T>C - intron_variant - 1/13 1
7-80242920-A-G c.-184+11225A>G - intron_variant - 1/13 21
7-80244694-T-A c.-184+12999T>A - intron_variant - 1/13 1
7-80244694-T-C c.-184+12999T>C - intron_variant - 1/13 1
7-80244939-G-A c.-184+13244G>A - intron_variant - 1/13 79
7-80245921-A-G c.-184+14226A>G - intron_variant - 1/13 1
7-80247030-G-A c.-184+15335G>A - intron_variant - 1/13 3
7-80247030-G-T c.-184+15335G>T - intron_variant - 1/13 3
7-80248001-A-G c.-184+16306A>G - intron_variant - 1/13 2
7-80248029-G-A c.-184+16334G>A - intron_variant - 1/13 4
7-80249319-G-A c.-184+17624G>A - intron_variant - 1/13 1
7-80249671-G-T c.-184+17976G>T - intron_variant - 1/13 1
7-80250122-A-T c.-184+18427A>T - intron_variant - 1/13 1
7-80250811-G-A c.-184+19116G>A - intron_variant - 1/13 1
7-80251202-A-C c.-184+19507A>C - intron_variant - 1/13 1
7-80252295-A-C c.-184+20600A>C - intron_variant - 1/13 3
7-80252518-T-C c.-184+20823T>C - intron_variant - 1/13 3
7-80252518-T-G c.-184+20823T>G - intron_variant - 1/13 3
7-80252695-C-A c.-184+21000C>A - intron_variant - 1/13 1
7-80252695-C-G c.-184+21000C>G - intron_variant - 1/13 1
7-80252807-A-G c.-184+21112A>G - intron_variant - 1/13 1
7-80253053-T-C c.-184+21358T>C - intron_variant - 1/13 1
7-80253383-T-A c.-184+21688T>A - intron_variant - 1/13 10
7-80253383-T-C c.-184+21688T>C - intron_variant - 1/13 10
7-80253455-T-A c.-184+21760T>A - intron_variant - 1/13 3
7-80253911-T-C c.-183-21493T>C - intron_variant - 1/13 3
7-80254792-T-A c.-183-20612T>A - intron_variant - 1/13 1
7-80254792-T-C c.-183-20612T>C - intron_variant - 1/13 1
7-80254880-A-G c.-183-20994A>G - IntronicSNV - 1/13 2
7-80256003-A-G c.-183-19401A>G - intron_variant - 1/13 1
7-80258630-G-A c.-183-16774G>A - intron_variant - 1/13 1
7-80259280-A-G c.-183-16594A>G - IntronicSNV - 1/13 25
7-80259908-G-C c.-183-15496G>C - intron_variant - 1/13 1
7-80259908-G-T c.-183-15496G>T - intron_variant - 1/13 1
7-80259988-C-T c.-183-15416C>T - intron_variant - 1/13 1
7-80260023-G-A c.-183-15381G>A - intron_variant - 1/13 1
7-80260023-G-C c.-183-15381G>C - intron_variant - 1/13 1
7-80262224-C-T c.-183-13180C>T - intron_variant - 1/13 2
7-80262830-A-G c.-183-12574A>G - intron_variant - 1/13 2
7-80263001-C-A c.-183-12403C>A - intron_variant - 1/13 6
7-80263001-C-T c.-183-12403C>T - intron_variant - 1/13 6
7-80265451-T-C c.-183-9953T>C - intron_variant - 1/13 2
7-80265625-T-A c.-183-9779T>A - intron_variant - 1/13 3
7-80265625-T-G c.-183-9779T>G - intron_variant - 1/13 3
7-80266538-A-G c.-183-9336A>G - IntronicSNV - 1/13 1
7-80267206-T-C c.-183-8668T>C - IntronicSNV - 1/13 2
7-80267904-G-A c.-183-7500G>A - intron_variant - 1/13 4
7-80267904-G-T c.-183-7500G>T - intron_variant - 1/13 4
7-80268425-C-A c.-183-7449C>A - IntronicSNV - 1/13 1
7-80270442-A-G c.-183-4962A>G - intron_variant - 1/13 1
7-80270822-A-G c.-183-4582A>G - intron_variant - 1/13 1
7-80271108-G-A c.-183-4296G>A - intron_variant - 1/13 2
7-80271330-A-T c.-183-4074A>T - intron_variant - 1/13 1
7-80271797-T-C c.-183-4077T>C - IntronicSNV - 1/13 1
7-80272568-T-A c.-183-2836T>A - intron_variant - 1/13 15
7-80272568-T-C c.-183-2836T>C - intron_variant - 1/13 15
7-80273778-A-C c.-183-2096A>C - IntronicSNV - 1/13 1
7-80273778-A-T c.-183-2096A>T - IntronicSNV - 1/13 1
7-80275455-A-C c.-132A>C - 5_prime_UTR_variant 2/14 - 18
7-80275455-A-G c.-132A>G - 5_prime_UTR_variant 2/14 - 18
7-80276039-A-AA c.-18dup - 5-UTRInsertion 3/14 - 1
7-80276046-G-A c.-90+79G>A - 5-UTRSNV - 2/13 3
7-80276046-G-T c.-90+79G>T - 5-UTRSNV - 2/13 3
7-80276065-T-C c.9T>C p.Cys3Cys Synonymous 3/14 - 3
7-80276070-G-A c.14G>A p.Arg5Gln Missense 3/14 - 1
7-80276070-G-C c.14G>C p.Arg5Pro Missense 3/14 - 1
7-80276070-G-T c.14G>T p.Arg5Leu Missense 3/14 - 1
7-80276090-G-A c.34G>A p.Gly12Arg Missense 3/14 - 1
7-80276090-G-C c.34G>C p.Gly12Arg Missense 3/14 - 1
7-80276090-GGG-ATC c.34_36delinsATC p.Gly12Ile Missense 3/14 - 1
7-80276091-GG-AC c.35_36delinsAC p.Gly12Asp Missense 3/14 - 10
7-80276091-G-T c.35G>T p.Gly12Val Missense 3/14 - 2
7-80276102-G-C c.46G>C p.Gly16Arg Missense 3/14 - 1
7-80276102-GG-AT c.46_47delinsAT p.Gly16Ile Missense 3/14 - 1
7-80276103-G-A c.47G>A p.Gly16Asp Missense 3/14 - 1
7-80276107-T-A c.51T>A p.Ala17Ala Synonymous 3/14 - 1
7-80276107-T-C c.51T>C p.Ala17Ala Synonymous 3/14 - 1
7-80276107-T-G c.51T>G p.Ala17Ala Synonymous 3/14 - 1
7-80276114-GC-AT c.58_59delinsAT p.Ala20Ile Missense 3/14 - 1
7-80276115-CT-AG c.59_60inv p.Ala20Glu Missense 3/14 - 1
7-80276116-T-A c.60T>A p.Ala20Ala Synonymous 3/14 - 2
7-80276116-T-C c.60T>C p.Ala20Ala Synonymous 3/14 - 2
7-80276116-T-G c.60T>G p.Ala20Ala Synonymous 3/14 - 2
7-80276123-GG-AT c.67_68delinsAT p.Gly23Ile Missense 3/14 - 1
7-80276124-G-T c.68G>T p.Gly23Val Missense 3/14 - 1
7-80276131-T-A c.75T>A p.Ile25Ile Synonymous 3/14 - 2
7-80276131-T-C c.75T>C p.Ile25Ile Synonymous 3/14 - 2
7-80276135-A-AA c.79dup p.Met27Asnfs*13 Frameshift 3/14 - 1
7-80276138-C-A c.82C>A p.Pro28Thr Missense 3/14 - 1
7-80276139-C-T c.83C>T p.Pro28Leu Missense 3/14 - 1
7-80276141-G-C c.85G>C p.Val29Leu Missense 3/14 - 1
7-80276150-C-T c.94C>T p.Leu32Leu Synonymous 3/14 - 1
7-80276152-G-A c.96G>A p.Leu32Leu Synonymous 3/14 - 1
7-80276152-G-C c.96G>C p.Leu32Leu Synonymous 3/14 - 1
7-80276152-G-T c.96G>T p.Leu32Leu Synonymous 3/14 - 1
7-80276154-T-C c.98T>C p.Leu33Pro Missense 3/14 - 4
7-80276167-A-C c.111A>C p.Thr37Thr Synonymous 3/14 - 1
7-80276167-A-G c.111A>G p.Thr37Thr Synonymous 3/14 - 1
7-80276167-A-T c.111A>T p.Thr37Thr Synonymous 3/14 - 1
7-80276173-A-C c.117A>C p.Lys39Asn Missense 3/14 - 1
7-80276173-A-T c.117A>T p.Lys39Asn Missense 3/14 - 1
7-80276174-AA-GG c.118_119delinsGG p.Lys40Gly Missense 3/14 - 1
7-80276331-C-T c.120+155C>T - IntronicSNV - 3/13 1
7-80276491-T-C c.120+315T>C - IntronicSNV - 3/13 1
7-80276491-T-G c.120+315T>G - IntronicSNV - 3/13 1
7-80277017-T-G c.120+841T>G - IntronicSNV - 3/13 3
7-80277318-T-C c.120+1142T>C - IntronicSNV - 3/13 1
7-80277632-A-G c.120+1456A>G - IntronicSNV - 3/13 1
7-80277743-T-G c.120+1567T>G - IntronicSNV - 3/13 1
7-80277990-G-A c.120+1814G>A - IntronicSNV - 3/13 8
7-80278107-T-G c.120+1931T>G - IntronicSNV - 3/13 2
7-80278465-A-C c.120+2289A>C - IntronicSNV - 3/13 3
7-80278563-A-G c.120+2387A>G - IntronicSNV - 3/13 8
7-80278626-A-G c.120+2450A>G - IntronicSNV - 3/13 4
7-80278773-C-G c.120+2597C>G - IntronicSNV - 3/13 1
7-80279160-G-A c.120+2984G>A - IntronicSNV - 3/13 1
7-80279460-A-C c.120+3284A>C - IntronicSNV - 3/13 2
7-80279603-T-A c.120+3427T>A - IntronicSNV - 3/13 1
7-80279603-T-G c.120+3427T>G - IntronicSNV - 3/13 1
7-80279718-C-T c.120+3542C>T - IntronicSNV - 3/13 2
7-80279835-A-G c.120+3659A>G - IntronicSNV - 3/13 5
7-80279835-A-T c.120+3659A>T - IntronicSNV - 3/13 5
7-80280117-A-C c.120+3941A>C - IntronicSNV - 3/13 7
7-80280117-A-T c.120+3941A>T - IntronicSNV - 3/13 7
7-80281300-T-C c.121-4556T>C - IntronicSNV - 3/13 4
7-80282636-G-A c.121-3220G>A - IntronicSNV - 3/13 7
7-80282899-C-A c.121-2957C>A - IntronicSNV - 3/13 1
7-80283132-C-T c.121-2724C>T - IntronicSNV - 3/13 2
7-80283323-A-G c.121-2533A>G - IntronicSNV - 3/13 12
7-80283416-G-A c.121-2440G>A - IntronicSNV - 3/13 5
7-80283416-G-T c.121-2440G>T - IntronicSNV - 3/13 5
7-80283457-A-C c.121-2399A>C - IntronicSNV - 3/13 4
7-80283457-A-G c.121-2399A>G - IntronicSNV - 3/13 4
7-80284942-T-C c.121-914T>C - IntronicSNV - 3/13 10
7-80285850-T-C c.121-6T>C - IntronicSNV - 3/13 21
7-80285863-TC-AG c.128_129delinsAG p.Val43Glu Missense 4/14 - 1
7-80285870-A-AA c.135dup p.Glu46Argfs*7 Frameshift 4/14 - 1
7-80285871-G-A c.136G>A p.Glu46Lys Missense 4/14 - 5
7-80285871-GA-CT c.136_137delinsCT p.Glu46Leu Missense 4/14 - 1
7-80285877-ACA-CAT c.142_144delinsCAT p.Thr48His Missense 4/14 - 1
7-80285893-A-AG c.158_159insG p.Asn53Lysfs*4 Frameshift 4/14 - 1
7-80285893-A-G c.158A>G p.Asn53Ser Missense 4/14 - 1
7-80285904-ACA-GAC c.169_171delinsGAC p.Thr57Asp Missense 4/14 - 1
7-80285907-GG-AC c.172_173delinsAC p.Gly58Thr Missense 4/14 - 1
7-80285926-A-T c.191A>T p.Gln64Leu Missense 4/14 - 1
7-80285959-A-C c.224A>C p.Glu75Ala Missense 4/14 - 1
7-80285970-AAC-CAA c.235_237delinsCAA p.Asn79Gln Missense 4/14 - 1
7-80285988-GTT-ATG c.253_255delinsATG p.Val85Met Missense 4/14 - 1
7-80286003-C-T c.268C>T p.Pro90Ser Missense 4/14 - 12
7-80286004-C-T c.269C>T p.Pro90Leu Missense 4/14 - 1
7-80286006-TAT-GAG c.271_273delinsGAG p.Tyr91Glu Missense 4/14 - 1
7-80286009-AC-GA c.274_275delinsGA p.Thr92Glu Missense 4/14 - 1
7-80286009-AC-TG c.274_275delinsTG p.Thr92Trp Missense 4/14 - 1
7-80286009-A-G c.274A>G p.Thr92Ala Missense 4/14 - 1
7-80286010-C-G c.275C>G p.Thr92Arg Missense 4/14 - 1
7-80286081-A-C c.281+65A>C - IntronicSNV - 4/13 1
7-80286081-A-G c.281+65A>G - IntronicSNV - 4/13 1
7-80286344-A-G c.281+328A>G - IntronicSNV - 4/13 1
7-80286908-T-C c.281+892T>C - IntronicSNV - 4/13 2
7-80286940-C-A c.281+924C>A - IntronicSNV - 4/13 7
7-80287022-T-C c.281+1006T>C - IntronicSNV - 4/13 4
7-80287152-T-A c.281+1136T>A - IntronicSNV - 4/13 2
7-80287209-C-T c.281+1193C>T - IntronicSNV - 4/13 9
7-80287358-A-G c.281+1342A>G - IntronicSNV - 4/13 1
7-80287611-G-A c.281+1595G>A - IntronicSNV - 4/13 1
7-80288385-G-A c.282-1994G>A - IntronicSNV - 4/13 12
7-80288560-T-A c.282-1819T>A - IntronicSNV - 4/13 2
7-80288854-A-G c.282-1525A>G - IntronicSNV - 4/13 4
7-80289043-A-T c.282-1336A>T - IntronicSNV - 4/13 12
7-80289402-C-T c.282-977C>T - IntronicSNV - 4/13 5
7-80289439-G-A c.282-940G>A - IntronicSNV - 4/13 3
7-80289921-A-T c.282-458A>T - IntronicSNV - 4/13 6
7-80289948-T-G c.282-431T>G - IntronicSNV - 4/13 1
7-80290348-T-C c.282-31T>C - IntronicSNV - 4/13 1
7-80290369-A-G c.282-10A>G - IntronicSNV - 4/13 8
7-80290384-G-C c.287G>C p.Arg96Pro Missense 5/14 - 1
7-80290399-A-C c.302A>C p.Glu101Ala Missense 5/14 - 1
7-80290401-AAT-CAA c.304_306delinsCAA p.Asn102Gln Missense 5/14 - 1
7-80290404-GTA-TGT c.307_309delinsTGT p.Val103Cys Missense 5/14 - 1
7-80290410-CA-GC c.313_314delinsGC p.Gln105Ala Missense 5/14 - 1
7-80290414-A-C c.317A>C p.Asp106Ala Missense 5/14 - 1
7-80290420-A-C c.323A>C p.Glu108Ala Missense 5/14 - 1
7-80290423-A-C c.326A>C p.Asp109Ala Missense 5/14 - 1
7-80290443-CA-GC c.346_347delinsGC p.Gln116Ala Missense 5/14 - 1
7-80290464-G-A c.367G>A p.Glu123Lys Missense 5/14 - 1
7-80290477-C-G c.380C>G p.Ser127* Nonsense 5/14 - 1
7-80290477-C-T c.380C>T p.Ser127Leu Missense 5/14 - 4
7-80290486-C-T c.389C>T p.Thr130Ile Missense 5/14 - 1
7-80290497-AAC-CAA c.400_402delinsCAA p.Asn134Gln Missense 5/14 - 1
7-80290499-C-G c.402C>G p.Asn134Lys Missense 5/14 - 1
7-80290507-T-C c.410T>C p.Val137Ala Missense 5/14 - 2
7-80290519-C-G c.422C>G p.Ala141Gly Missense 5/14 - 1
7-80290527-G-A c.429+1G>A - IntronicSNV - 5/13 1
7-80290528-T-A c.429+2T>A - IntronicSNV - 5/13 1
7-80290528-T-C c.429+2T>C - IntronicSNV - 5/13 1
7-80290528-T-G c.429+2T>G - IntronicSNV - 5/13 1
7-80291299-C-A c.429+773C>A - IntronicSNV - 5/13 1
7-80291299-C-T c.429+773C>T - IntronicSNV - 5/13 1
7-80291398-G-A c.429+872G>A - IntronicSNV - 5/13 6
7-80291851-C-A c.430-455C>A - IntronicSNV - 5/13 2
7-80291851-C-T c.430-455C>T - IntronicSNV - 5/13 2
7-80292304-A-G c.430-2A>G - IntronicSNV - 5/13 1
7-80292304-A-T c.430-2A>T - IntronicSNV - 5/13 1
7-80292305-G-A c.430-1G>A - IntronicSNV - 5/13 1
7-80292305-G-C c.430-1G>C - IntronicSNV - 5/13 1
7-80292320-C-G c.444C>G p.Ile148Met Missense 6/14 - 3
7-80292327-AA-GT c.451_452delinsGT p.Asn151Val Missense 6/14 - 1
7-80292327-A-T c.451A>T p.Asn151Tyr Missense 6/14 - 1
7-80292330-CA-GC c.454_455delinsGC p.Gln152Ala Missense 6/14 - 1
7-80292336-G-A c.460G>A p.Val154Ile Missense 6/14 - 1
7-80292336-G-T c.460G>T p.Val154Phe Missense 6/14 - 1
7-80292363-AAC-CAA c.487_489delinsCAA p.Asn163Gln Missense 6/14 - 1
7-80292366-AA-GC c.490_491delinsGC p.Lys164Ala Missense 6/14 - 1
7-80292366-A-G c.490A>G p.Lys164Glu Missense 6/14 - 2
7-80292367-A-C c.491A>C p.Lys164Thr Missense 6/14 - 3
7-80292367-A-G c.491A>G p.Lys164Arg Missense 6/14 - 1
7-80292381-AT-GC c.505_506delinsGC p.Met169Ala Missense 6/14 - 1
7-80292414-T-C c.538T>C p.Trp180Arg Missense 6/14 - 2
7-80292415-G-A c.539G>A p.Trp180* Nonsense 6/14 - 1
7-80292426-G-A c.550G>A p.Asp184Asn Missense 6/14 - 1
7-80292429-CC-GT c.553_554delinsGT p.Pro185Val Missense 6/14 - 1
7-80292448-C-T c.572C>T p.Pro191Leu Missense 6/14 - 2
7-80292449-G-A c.573G>A p.Pro191Pro Synonymous 6/14 - 5
7-80292460-CT-TG c.584_585delinsTG p.Thr195Met Missense 6/14 - 3
7-80292462-AC-TG c.586_587delinsTG p.Thr196Cys Missense 6/14 - 1
7-80292467-A-C c.591A>C p.Thr197Thr Synonymous 6/14 - 2
7-80292467-A-G c.591A>G p.Thr197Thr Synonymous 6/14 - 2
7-80292467-A-T c.591A>T p.Thr197Thr Synonymous 6/14 - 2
7-80292559-T-A c.609+74T>A - IntronicSNV - 6/13 1
7-80293041-G-C c.609+556G>C - IntronicSNV - 6/13 4
7-80293189-A-C c.610-533A>C - IntronicSNV - 6/13 3
7-80293725-AAC-CAA c.613_615delinsCAA p.Asn205Gln Missense 7/14 - 1
7-80293732-C-T c.620C>T p.Thr207Ile Missense 7/14 - 1
7-80293750-A-G c.638A>G p.Lys213Arg Missense 7/14 - 1
7-80293761-GG-AA c.649_650delinsAA p.Gly217Lys Missense 7/14 - 1
7-80293762-GA-AC c.650_651delinsAC p.Gly217Asp Missense 7/14 - 1
7-80293767-G-T c.655G>T p.Asp219Tyr Missense 7/14 - 1
7-80293768-A-C c.656A>C p.Asp219Ala Missense 7/14 - 1
7-80293770-AAC-CAA c.658_660delinsCAA p.Asn220Gln Missense 7/14 - 1
7-80293772-C-A c.660C>A p.Asn220Lys Missense 7/14 - 1
7-80293772-C-G c.660C>G p.Asn220Lys Missense 7/14 - 1
7-80293793-C-A c.681C>A p.Ile227Ile Synonymous 7/14 - 1
7-80293793-C-T c.681C>T p.Ile227Ile Synonymous 7/14 - 1
7-80293916-C-T c.701+103C>T - IntronicSNV - 7/13 12
7-80294115-T-C c.701+302T>C - IntronicSNV - 7/13 4
7-80294604-A-G c.701+791A>G - IntronicSNV - 7/13 5
7-80294681-A-C c.701+868A>C - IntronicSNV - 7/13 1
7-80294729-80294730---TCAAACTGAGTCTATCTAATGATTGCTTT c.701+918_701+946dup - intron_variant - 7/13 1
7-80295234-G-A c.702-525G>A - IntronicSNV - 7/13 1
7-80295301-T-C c.702-458T>C - IntronicSNV - 7/13 2
7-80295701-T-C c.702-58T>C - IntronicSNV - 7/13 1
7-80295760-AAT-CAA c.703_705delinsCAA p.Asn235Gln Missense 8/14 - 1
7-80295763-C-G c.706C>G p.Leu236Val Missense 8/14 - 1
7-80295763-C-T c.706C>T p.Leu236Leu Synonymous 8/14 - 1
7-80295765-TGT-T c.708_709del p.Ser237Leufs*10 Frameshift 8/14 - 1
7-80295771-T-A c.714T>A p.Tyr238* Nonsense 8/14 - 1
7-80295771-T-G c.714T>G p.Tyr238* Nonsense 8/14 - 1
7-80295786-C-A c.729C>A p.Cys243* Nonsense 8/14 - 1
7-80295796-AAT-CAA c.739_741delinsCAA p.Asn247Gln Missense 8/14 - 1
7-80295805-G-A c.748G>A p.Asp250Asn Missense 8/14 - 1
7-80296054-C-T c.748+249C>T - IntronicSNV - 8/13 1
7-80296068-T-G c.748+263T>G - IntronicSNV - 8/13 1
7-80296930-A-G c.748+1125A>G - IntronicSNV - 8/13 3
7-80297720-C-A c.749-1549C>A - IntronicSNV - 8/13 9
7-80297720-C-G c.749-1549C>G - IntronicSNV - 8/13 9
7-80297720-C-T c.749-1549C>T - IntronicSNV - 8/13 9
7-80298173-C-T c.749-1096C>T - IntronicSNV - 8/13 13
7-80298887-T-C c.749-382T>C - IntronicSNV - 8/13 3
7-80299113-G-A c.749-156G>A - IntronicSNV - 8/13 1
7-80299113-G-T c.749-156G>T - IntronicSNV - 8/13 1
7-80299255-C-T c.749-14C>T - IntronicSNV - 8/13 1
7-80299275-C-T c.755C>T p.Ala252Val Missense 9/14 - 1
7-80299280-T-C c.760T>C p.Phe254Leu Missense 9/14 - 2
7-80299282-T-A c.762T>A p.Phe254Leu Missense 9/14 - 2
7-80299282-T-G c.762T>G p.Phe254Leu Missense 9/14 - 2
7-80299307-GGTATTGCAGTTCTTTTCTTCTG-G c.787_808del p.Val263Ilefs*16 Frameshift 9/14 - 2
7-80299327-T-TT c.807dup p.Asp270* Nonsense 9/14 - 1
7-80299850-T-A c.819-443T>A - IntronicSNV - 9/13 7
7-80300310-T-A c.836T>A p.Phe279Tyr Missense 10/14 - 1
7-80300342-G-A c.868G>A p.Val290Met Missense 10/14 - 6
7-80300405-T-A c.931T>A p.Cys311Ser Missense 10/14 - 1
7-80300405-TG-GC c.931_932delinsGC p.Cys311Ala Missense 10/14 - 1
7-80300406-G-C c.932G>C p.Cys311Ser Missense 10/14 - 1
7-80300435-AAT-CAA c.961_963delinsCAA p.Asn321Gln Missense 10/14 - 1
7-80300438-TG-GC c.964_965delinsGC p.Cys322Ala Missense 10/14 - 1
7-80300445-C-G c.971C>G p.Ser324* Nonsense 10/14 - 1
7-80300449-T-G c.975T>G p.Tyr325* Nonsense 10/14 - 70
7-80300471-TG-GC c.997_998delinsGC p.Cys333Ala Missense 10/14 - 1
7-80300473-C-T c.999C>T p.Cys333Cys Synonymous 10/14 - 1
7-80300482-T-C c.1006+2T>C - IntronicSNV - 10/13 1
7-80300482-T-G c.1006+2T>G - IntronicSNV - 10/13 1
7-80301004-T-C c.1007-234T>C - IntronicSNV - 10/13 2
7-80301218-C-G c.1007-20C>G - IntronicSNV - 10/13 1
7-80301218-C-T c.1007-20C>T - IntronicSNV - 10/13 1
7-80301251-C-T c.1020C>T p.Tyr340Tyr Synonymous 11/14 - 1
7-80301274-A-G c.1043A>G p.Tyr348Cys Missense 11/14 - 1
7-80301274-A-T c.1043A>T p.Tyr348Phe Missense 11/14 - 2
7-80301310-T-C c.1079T>C p.Leu360Ser Missense 11/14 - 4
7-80301310-T-G c.1079T>G p.Leu360* Nonsense 11/14 - 8
7-80301333-AGG-CAT c.1102_1104delinsCAT p.Arg368His Missense 11/14 - 1
7-80301369-C-A c.1125+13C>A - IntronicSNV - 11/13 1
7-80301500-G-A c.1125+144G>A - IntronicSNV - 11/13 42
7-80301513-G-T c.1125+157G>T - IntronicSNV - 11/13 1
7-80301936-C-A c.1126-150C>A - IntronicSNV - 11/13 4
7-80302092-G-A c.1132G>A p.Gly378Arg Missense 12/14 - 1
7-80302092-G-C c.1132G>C p.Gly378Arg Missense 12/14 - 1
7-80302093-G-T c.1133G>T p.Gly378Val Missense 12/14 - 3
7-80302104-C-T c.1144C>T p.Gln382* Nonsense 12/14 - 2
7-80302110-G-C c.1150G>C p.Ala384Pro Missense 12/14 - 5
7-80302116-C-G c.1156C>G p.Arg386Gly Missense 12/14 - 3
7-80302116-C-T c.1156C>T p.Arg386Trp Missense 12/14 - 5
7-80302117-G-A c.1157G>A p.Arg386Gln Missense 12/14 - 1
7-80302123-A-T c.1163A>T p.Gln388Leu Missense 12/14 - 1
7-80302136-G-T c.1176G>T p.Leu392Phe Missense 12/14 - 1
7-80302196-G-A c.1199+37G>A - IntronicSNV - 12/13 1
7-80302390-C-T c.1199+231C>T - IntronicSNV - 12/13 1
7-80302678-A-T c.1207A>T p.Lys403* Nonsense 13/14 - 1
7-80302708-A-C c.1237A>C p.Ile413Leu Missense 13/14 - 2
7-80302726-G-A c.1254+1G>A - IntronicSNV - 13/13 1
7-80302726-G-C c.1254+1G>C - IntronicSNV - 13/13 1
7-80302798-G-C c.1254+73G>C - IntronicSNV - 13/13 1
7-80302798-G-T c.1254+73G>T - IntronicSNV - 13/13 1
7-80303350-G-T c.1306G>T p.Gly436* Nonsense 14/14 - 1
7-80303356-AT-CA c.1312_1313delinsCA p.Ile438Gln Missense 14/14 - 1
7-80303370-C-A c.1326C>A p.Gly442Gly Synonymous 14/14 - 1
7-80303370-C-G c.1326C>G p.Gly442Gly Synonymous 14/14 - 1
7-80303370-C-T c.1326C>T p.Gly442Gly Synonymous 14/14 - 1
7-80303384-TCTT-TCTTTCTT c.1340_1343dup p.Leu448Phefs*62 Frameshift 14/14 - 1
7-80303386-TT-GC c.1342_1343delinsGC p.Leu448Ala Missense 14/14 - 1
7-80303404-GTG-ATC c.1360_1362delinsATC p.Val454Ile Missense 14/14 - 1
7-80303432-A-T c.1388A>T p.Tyr463Phe Missense 14/14 - 5
7-80303433-T-G c.1389T>G p.Tyr463* Nonsense 14/14 - 1
7-80303434-T-A c.1390T>A p.Cys464Ser Missense 14/14 - 4
7-80303434-TG-GC c.1390_1391delinsGC p.Cys464Ala Missense 14/14 - 1
7-80303435-G-C c.1391G>C p.Cys464Ser Missense 14/14 - 4
7-80303439-A-C c.1395A>C p.Ala465Ala Synonymous 14/14 - 1
7-80303439-A-G c.1395A>G p.Ala465Ala Synonymous 14/14 - 1
7-80303439-A-T c.1395A>T p.Ala465Ala Synonymous 14/14 - 1
7-80303443-A-G c.1399A>G p.Arg467Gly Missense 14/14 - 1
7-80303446-T-G c.1402T>G p.Ser468Ala Missense 14/14 - 1
7-80303448-G-A c.1404G>A p.Ser468Ser Synonymous 14/14 - 1
7-80303449-AA-GC c.1405_1406delinsGC p.Lys469Ala Missense 14/14 - 2
7-80303449-A-G c.1405A>G p.Lys469Glu Missense 14/14 - 2
7-80303452-A-G c.1408A>G p.Thr470Ala Missense 14/14 - 1
7-80303453-C-T c.1409C>T p.Thr470Ile Missense 14/14 - 1