GRIN2A glutamate ionotropic receptor NMDA type subunit 2A

Canonical transcript: NM_000833

1117 unique variant annotations were identified in 513 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
16-9848471-T-G c.*8535A>C - 3-UTRSNV 14/14 - 2
16-9849682-C-G c.*7324G>C - 3-UTRSNV 14/14 - 1
16-9849682-C-T c.*7324G>A - 3-UTRSNV 14/14 - 1
16-9850397-A-G c.*6609T>C - 3-UTRSNV 14/14 - 7
16-9850531-A-T c.*6475T>A - 3-UTRSNV 14/14 - 1
16-9850857-G-C c.*6149C>G - 3-UTRSNV 14/14 - 3
16-9850878-T-A c.*6128A>T - 3-UTRSNV 14/14 - 4
16-9850878-T-C c.*6128A>G - 3-UTRSNV 14/14 - 4
16-9851122-C-T c.*5884G>A - 3-UTRSNV 14/14 - 3
16-9851188-G-A c.*5818C>T - 3-UTRSNV 14/14 - 3
16-9851188-G-C c.*5818C>G - 3-UTRSNV 14/14 - 3
16-9853500-G-GC c.*3505_*3506insG - 3-UTRInsertion 14/14 - 1
16-9854203-T-C c.*2803A>G - 3-UTRSNV 14/14 - 1
16-9854389-C-G c.*2617G>C - 3-UTRSNV 14/14 - 1
16-9854389-C-T c.*2617G>A - 3-UTRSNV 14/14 - 1
16-9855794-G-A c.*1212C>T - 3-UTRSNV 14/14 - 13
16-9857020-C-T c.4381G>A p.Glu1461Lys Missense 14/14 - 1
16-9857026-T-C c.4375A>G p.Ser1459Gly Missense 14/14 - 1
16-9857046-C-T c.4355G>A p.Arg1452His Missense 14/14 - 1
16-9857048-T-A c.4353A>T p.Arg1451Ser Missense 14/14 - 1
16-9857094-T-C c.4307A>G p.Asn1436Ser Missense 14/14 - 3
16-9857125-C-T c.4276G>A p.Glu1426Lys Missense 14/14 - 2
16-9857137-C-T c.4264G>A p.Val1422Met Missense 14/14 - 1
16-9857140-C-T c.4261G>A p.Asp1421Asn Missense 14/14 - 2
16-9857154-CT-TT c.4247delinsA p.Ser1416Asn Missense 14/14 - 1
16-9857163-GA-CG c.4237_4238delinsCG p.Ser1413Arg Missense 14/14 - 1
16-9857163-GA-CT c.4237_4238delinsAG p.Ser1413Ser Missense 14/14 - 1
16-9857163-G-C c.4238C>G p.Ser1413Cys Missense 14/14 - 1
16-9857166-CA-AC c.4234_4235delinsGT p.Cys1412Val Missense 14/14 - 1
16-9857174-T-A c.4227A>T p.Ala1409Ala Synonymous 14/14 - 1
16-9857174-T-C c.4227A>G p.Ala1409Ala Synonymous 14/14 - 1
16-9857174-T-G c.4227A>C p.Ala1409Ala Synonymous 14/14 - 1
16-9857185-T-A c.4216A>T p.Arg1406Trp Missense 14/14 - 1
16-9857196-C-G c.4205G>C p.Arg1402Pro Missense 14/14 - 1
16-9857196-C-T c.4205G>A p.Arg1402Gln Missense 14/14 - 1
16-9857240-G-T c.4161C>A p.Tyr1387* Nonsense 14/14 - 4
16-9857240-GTA-GAG c.4159_4160delinsCT p.Tyr1387Leu Missense 14/14 - 1
16-9857266-T-C c.4135A>G p.Ile1379Val Missense 14/14 - 1
16-9857275-G-A c.4126C>T p.Arg1376Cys Missense 14/14 - 1
16-9857291-G-T c.4110C>A p.Ser1370Ser Synonymous 14/14 - 1
16-9857369-G-A c.4032C>T p.Phe1344Phe Synonymous 14/14 - 1
16-9857386-TT-T c.4021del p.Ser1341Alafs*56 Frameshift 14/14 - 1
16-9857427-T-A c.3974A>T p.Tyr1325Phe Missense 14/14 - 6
16-9857449-G-A c.3952C>T p.Arg1318Trp Missense 14/14 - 2
16-9857455-T-C c.3946A>G p.Arg1316Gly Missense 14/14 - 1
16-9857475-C-T c.3926G>A p.Arg1309Gln Missense 14/14 - 1
16-9857517-A-G c.3884T>C p.Ile1295Thr Missense 14/14 - 2
16-9857517-A-T c.3884T>A p.Ile1295Asn Missense 14/14 - 1
16-9857524-C-T c.3877G>A p.Asp1293Asn Missense 14/14 - 1
16-9857530-A-C c.3871T>G p.Ser1291Ala Missense 14/14 - 2
16-9857538-C-T c.3863G>A p.Arg1288His Missense 14/14 - 1
16-9857547-C-A c.3854G>T p.Arg1285Met Missense 14/14 - 2
16-9857547-C-T c.3854G>A p.Arg1285Lys Missense 14/14 - 2
16-9857574-G-C c.3827C>G p.Ala1276Gly Missense 14/14 - 11
16-9857588-C-T c.3813G>A p.Trp1271* Nonsense 14/14 - 2
16-9857628-C-A c.3773G>T p.Gly1258Val Missense 14/14 - 1
16-9857650-C-T c.3751G>A p.Asp1251Asn Missense 14/14 - 4
16-9857672-C-A c.3729G>T p.Gly1243Gly Synonymous 14/14 - 1
16-9857672-C-G c.3729G>C p.Gly1243Gly Synonymous 14/14 - 1
16-9857672-C-T c.3729G>A p.Gly1243Gly Synonymous 14/14 - 1
16-9857680-G-A c.3721C>T p.Arg1241Trp Missense 14/14 - 1
16-9857694-CA-AC c.3706_3707delinsGT p.Cys1236Val Missense 14/14 - 1
16-9857732-G-A c.3669C>T p.Thr1223Thr Synonymous 14/14 - 1
16-9857733-G-C c.3668C>G p.Thr1223Ser Missense 14/14 - 1
16-9857734-T-A c.3667A>T p.Thr1223Ser Missense 14/14 - 1
16-9857779-G-A c.3622C>T p.Arg1208Trp Missense 14/14 - 2
16-9857779-G-T c.3622C>A p.Arg1208Arg Synonymous 14/14 - 2
16-9857797-C-T c.3604G>A p.Glu1202Lys Missense 14/14 - 1
16-9857823-A-C c.3578T>G p.Leu1193Trp Missense 14/14 - 3
16-9857823-A-T c.3578T>A p.Leu1193* Nonsense 14/14 - 2
16-9857869-G-T c.3532C>A p.Leu1178Ile Missense 14/14 - 1
16-9857878-C-T c.3523G>A p.Glu1175Lys Missense 14/14 - 3
16-9857944-C-T c.3457G>A p.Asp1153Asn Missense 14/14 - 1
16-9857958-G-A c.3443C>T p.Pro1148Leu Missense 14/14 - 1
16-9857974-C-A c.3427G>T p.Glu1143* Nonsense 14/14 - 1
16-9857974-C-T c.3427G>A p.Glu1143Lys Missense 14/14 - 1
16-9857975-G-A c.3426C>T p.Pro1142Pro Synonymous 14/14 - 1
16-9857975-G-T c.3426C>A p.Pro1142Pro Synonymous 14/14 - 1
16-9858004-G-A c.3397C>T p.Pro1133Ser Missense 14/14 - 1
16-9858006-G-A c.3395C>T p.Pro1132Leu Missense 14/14 - 3
16-9858015-T-C c.3386A>G p.His1129Arg Missense 14/14 - 1
16-9858036-C-A c.3365G>T p.Gly1122Val Missense 14/14 - 1
16-9858036-C-T c.3365G>A p.Gly1122Asp Missense 14/14 - 1
16-9858060-C-G c.3341G>C p.Arg1114Thr Missense 14/14 - 1
16-9858153-TT-GC c.3247_3248delinsGC p.Lys1083Ala Missense 14/14 - 1
16-9858159-TT-GC c.3241_3242delinsGC p.Lys1081Ala Missense 14/14 - 1
16-9858173-G-C c.3228C>G p.Asn1076Lys Missense 14/14 - 9
16-9858173-G-T c.3228C>A p.Asn1076Lys Missense 14/14 - 10
16-9858180-G-A c.3221C>T p.Pro1074Leu Missense 14/14 - 1
16-9858184-C-T c.3217G>A p.Glu1073Lys Missense 14/14 - 2
16-9858195-G-A c.3206C>T p.Thr1069Met Missense 14/14 - 1
16-9858202-G-A c.3199C>T p.Arg1067Trp Missense 14/14 - 2
16-9858211-T-C c.3190A>G p.Thr1064Ala Missense 14/14 - 2
16-9858211-T-G c.3190A>C p.Thr1064Pro Missense 14/14 - 1
16-9858223-C-T c.3178G>A p.Asp1060Asn Missense 14/14 - 1
16-9858257-GCT-GAG c.3142_3143delinsCT p.Ser1048Leu Missense 14/14 - 1
16-9858258-CT-GC c.3142_3143delinsGC p.Ser1048Ala Missense 14/14 - 1
16-9858275-C-A c.3126G>T p.Arg1042Ser Missense 14/14 - 1
16-9858275-C-G c.3126G>C p.Arg1042Ser Missense 14/14 - 1
16-9858275-C-T c.3126G>A p.Arg1042Arg Synonymous 14/14 - 1
16-9858298-C-T c.3103G>A p.Asp1035Asn Missense 14/14 - 1
16-9858337-G-A c.3064C>T p.Arg1022Cys Missense 14/14 - 1
16-9858342-G-C c.3059C>G p.Ser1020Cys Missense 14/14 - 1
16-9858398-G-A c.3003C>T p.Ser1001Ser Synonymous 14/14 - 1
16-9858403-C-T c.2998G>A p.Val1000Met Missense 14/14 - 1
16-9858409-C-T c.2992G>A p.Val998Met Missense 14/14 - 1
16-9858447-G-A c.2954C>T p.Pro985Leu Missense 14/14 - 1
16-9858474-T-C c.2927A>G p.Asn976Ser Missense 14/14 - 5
16-9858499-C-T c.2902G>A p.Ala968Thr Missense 14/14 - 3
16-9858502-C-G c.2899G>C p.Val967Leu Missense 14/14 - 4
16-9858502-C-T c.2899G>A p.Val967Met Missense 14/14 - 3
16-9858511-G-C c.2890C>G p.Gln964Glu Missense 14/14 - 1
16-9858512-GG-G c.2890del p.Gln964Lysfs*37 Frameshift 14/14 - 1
16-9858517-C-T c.2884G>A p.Glu962Lys Missense 14/14 - 4
16-9858518-G-A c.2883C>T p.Asn961Asn Synonymous 14/14 - 1
16-9858541-T-C c.2860A>G p.Ser954Gly Missense 14/14 - 1
16-9858549-C-A c.2852G>T p.Gly951Val Missense 14/14 - 1
16-9858572-G-C c.2829C>G p.Tyr943* Nonsense 14/14 - 3
16-9858604-C-T c.2797G>A p.Asp933Asn Missense 14/14 - 5
16-9858615-G-A c.2786C>T p.Ser929Phe Missense 14/14 - 3
16-9858616-A-C c.2785T>G p.Ser929Ala Missense 14/14 - 1
16-9858642-C-T c.2759G>A p.Arg920Lys Missense 14/14 - 3
16-9858666-G-C c.2735C>G p.Ser912Cys Missense 14/14 - 1
16-9858687-G-A c.2714C>T p.Ser905Phe Missense 14/14 - 1
16-9858691-T-A c.2710A>T p.Ile904Phe Missense 14/14 - 2
16-9858703-A-C c.2698T>G p.Ser900Ala Missense 14/14 - 1
16-9858730-G-A c.2671C>T p.Gln891* Nonsense 14/14 - 2
16-9858735-C-T c.2666G>A p.Gly889Glu Missense 14/14 - 3
16-9858738-G-A c.2663C>T p.Thr888Met Missense 14/14 - 2
16-9858744-T-C c.2657A>G p.Asn886Ser Missense 14/14 - 1
16-9858751-C-T c.2650G>A p.Asp884Asn Missense 14/14 - 2
16-9858765-T-C c.2636A>G p.Lys879Arg Missense 14/14 - 1
16-9858774-A-G c.2627T>C p.Ile876Thr Missense 14/14 - 3
16-9858774-A-T c.2627T>A p.Ile876Asn Missense 14/14 - 1
16-9858798-T-A c.2603A>T p.Tyr868Phe Missense 14/14 - 1
16-9858801-A-G c.2600T>C p.Ile867Thr Missense 14/14 - 1
16-9859416-G-A c.2596-611C>T - IntronicSNV - 13/13 5
16-9859416-G-C c.2596-611C>G - IntronicSNV - 13/13 5
16-9859416-G-T c.2596-611C>A - IntronicSNV - 13/13 5
16-9862556-G-T c.2595+152C>A - IntronicSNV - 13/13 13
16-9862710-T-TA c.2592_2593insT p.Arg865* Nonsense 13/14 - 1
16-9862710-T-TT c.2593dup p.Arg865Lysfs*13 SpliceDonorInsertion 13/14 - 1
16-9862754-G-A c.2549C>T p.Thr850Met Missense 13/14 - 1
16-9862767-G-A c.2536C>T p.Arg846Cys Missense 13/14 - 1
16-9862769-AG-GC c.2533_2534delinsGC p.Leu845Ala Missense 13/14 - 1
16-9862778-T-A c.2525A>T p.Tyr842Phe Missense 13/14 - 2
16-9862785-G-A c.2518C>T p.Leu840Phe Missense 13/14 - 1
16-9862790-TC-TG c.2512delinsC p.Glu838Gln Missense 13/14 - 1
16-9862795-GAT-TGG c.2506_2508delinsCCA p.Ile836Pro Missense 13/14 - 1
16-9862796-A-G c.2507T>C p.Ile836Thr Missense 13/14 - 1
16-9862798-GA-GG c.2504delinsC p.Phe835Ser Missense 13/14 - 1
16-9862801-GGT-TGG c.2500_2502delinsCCA p.Thr834Pro Missense 13/14 - 1
16-9862804-GAT-TGG c.2497_2499delinsCCA p.Ile833Pro Missense 13/14 - 1
16-9862809-G-A c.2494C>T p.Leu832Phe Missense 13/14 - 1
16-9862809-G-T c.2494C>A p.Leu832Ile Missense 13/14 - 1
16-9862810-GCT-TGG c.2491_2493delinsCCA p.Ser831Pro Missense 13/14 - 1
16-9862811-CT-GA c.2491_2492delinsTC p.Ser831Ser Missense 13/14 - 1
16-9862811-CT-GC c.2491_2492delinsGC p.Ser831Ala Missense 13/14 - 3
16-9862816-GGC-TGG c.2485_2487delinsCCA p.Ala829Pro Missense 13/14 - 1
16-9862820-AT-TG c.2482_2483delinsCA p.Met828Gln Missense 13/14 - 1
16-9862822-GGC-TGG c.2479_2481delinsCCA p.Ala827Pro Missense 13/14 - 1
16-9862825-G-A c.2478C>T p.Ala826Ala Synonymous 13/14 - 1
16-9862825-GGC-TGG c.2476_2478delinsCCA p.Ala826Pro Missense 13/14 - 1
16-9862828-AGC-TGG c.2473_2475delinsCCA p.Ala825Pro Missense 13/14 - 5
16-9862831-CAG-TGT c.2470_2472delinsACA p.Leu824Thr Missense 13/14 - 1
16-9862832-AG-TG c.2471delinsA p.Leu824Gln Missense 13/14 - 1
16-9862834-CAT-TGT c.2468_2469delinsCA p.Met823Thr Missense 13/14 - 1
16-9862835-A-G c.2468T>C p.Met823Thr Missense 13/14 - 1
16-9862835-AT-TG c.2467_2468delinsCA p.Met823Gln Missense 13/14 - 3
16-9862837-GT-GG c.2465delinsC p.Tyr822Ser Missense 13/14 - 1
16-9862840-GA-GG c.2462delinsC p.Phe821Ser Missense 13/14 - 1
16-9862841-A-C c.2462T>G p.Phe821Cys Missense 13/14 - 1
16-9862843-TAC-TGG c.2458_2459delinsCC p.Val820Pro Missense 13/14 - 2
16-9862843-TAC-TGT c.2458_2459delinsAC p.Val820Thr Missense 13/14 - 1
16-9862844-A-C c.2459T>G p.Val820Gly Missense 13/14 - 3
16-9862846-GCC-TGG c.2455_2457delinsCCA p.Gly819Pro Missense 13/14 - 1
16-9862847-C-G c.2456G>C p.Gly819Ala Missense 13/14 - 1
16-9862850-GC-TG c.2452_2453delinsCA p.Ala818Gln Missense 13/14 - 1
16-9862853-A-G c.2450T>C p.Met817Thr Missense 13/14 - 3
16-9862853-AT-TG c.2449_2450delinsCA p.Met817Gln Missense 13/14 - 1
16-9862854-T-C c.2449A>G p.Met817Val Missense 13/14 - 11
16-9862855-G-A c.2448C>T p.Asn816Asn Synonymous 13/14 - 1
16-9862855-GTT-TGG c.2446_2448delinsCCA p.Asn816Pro Missense 13/14 - 1
16-9862858-GTC-TGG c.2443_2445delinsCCA p.Asp815Pro Missense 13/14 - 1
16-9862861-AAT-TGG c.2440_2442delinsCCA p.Ile814Pro Missense 13/14 - 1
16-9862862-A-G c.2441T>C p.Ile814Thr Missense 13/14 - 4
16-9862867-CAG-TGT c.2434_2436delinsACA p.Leu812Thr Missense 13/14 - 1
16-9862868-AG-AC c.2434delinsG p.Leu812Val Missense 13/14 - 1
16-9862868-AG-GA c.2434_2435delinsTC p.Leu812Ser Missense 13/14 - 1
16-9862868-AG-GC c.2434_2435delinsGC p.Leu812Ala Missense 13/14 - 1
16-9862868-AG-GG c.2435delinsC p.Leu812Pro Missense 13/14 - 1
16-9862868-AG-TC c.2434_2435delinsGA p.Leu812Glu Missense 13/14 - 1
16-9862868-A-T c.2435T>A p.Leu812Gln Missense 13/14 - 1
16-9862869-G-T c.2434C>A p.Leu812Met Missense 13/14 - 25
16-9862872-G-T c.2431C>A p.Gln811Lys Missense 13/14 - 1
16-9862875-T-C c.2428A>G p.Ser810Gly Missense 13/14 - 1
16-9862896-C-A c.2407G>T p.Glu803* Nonsense 13/14 - 1
16-9862903-G-T c.2400C>A p.Cys800* Nonsense 13/14 - 1
16-9862921-C-A c.2382G>T p.Leu794Leu Synonymous 13/14 - 1
16-9862921-CAG-TGT c.2380_2382delinsACA p.Leu794Thr Missense 13/14 - 1
16-9862921-C-G c.2382G>C p.Leu794Leu Synonymous 13/14 - 1
16-9862921-C-T c.2382G>A p.Leu794Leu Synonymous 13/14 - 1
16-9862923-G-A c.2380C>T p.Leu794Leu Synonymous 13/14 - 1
16-9862930-CAG-TGT c.2371_2373delinsACA p.Leu791Thr Missense 13/14 - 1
16-9862934-TC-AT c.2368_2369delinsAT p.Glu790Met Missense 13/14 - 1
16-9862937-T-G c.2366A>C p.Glu789Ala Missense 13/14 - 1
16-9862939-C-A c.2364G>T p.Met788Ile Missense 13/14 - 1
16-9862939-C-G c.2364G>C p.Met788Ile Missense 13/14 - 1
16-9862939-C-T c.2364G>A p.Met788Ile Missense 13/14 - 1
16-9862940-AT-GC c.2362_2363delinsGC p.Met788Ala Missense 13/14 - 1
16-9862946-C-G c.2357G>C p.Gly786Ala Missense 13/14 - 2
16-9862946-C-T c.2357G>A p.Gly786Asp Missense 13/14 - 1
16-9864495-A-G c.2357-1549T>C - IntronicSNV - 12/13 2
16-9864495-A-T c.2357-1549T>A - IntronicSNV - 12/13 2
16-9864534-C-T c.2357-1588G>A - IntronicSNV - 12/13 1
16-9865007-A-C c.2357-2061T>G - IntronicSNV - 12/13 1
16-9865007-A-T c.2357-2061T>A - IntronicSNV - 12/13 1
16-9865959-C-G c.2357-3013G>C - IntronicSNV - 12/13 2
16-9865959-C-T c.2357-3013G>A - IntronicSNV - 12/13 2
16-9866590-C-T c.2357-3644G>A - IntronicSNV - 12/13 1
16-9868758-A-G c.2357-5812T>C - IntronicSNV - 12/13 1
16-9870086-A-C c.2357-7140T>G - IntronicSNV - 12/13 1
16-9870199-G-C c.2357-7253C>G - IntronicSNV - 12/13 1
16-9870244-G-A c.2357-7298C>T - IntronicSNV - 12/13 1
16-9871196-C-G c.2357-8250G>C - IntronicSNV - 12/13 1
16-9871468-G-A c.2357-8522C>T - IntronicSNV - 12/13 1
16-9871496-A-G c.2357-8550T>C - IntronicSNV - 12/13 2
16-9873319-G-A c.2357-10373C>T - IntronicSNV - 12/13 4
16-9873465-G-A c.2357-10519C>T - IntronicSNV - 12/13 2
16-9876382-G-A c.2357-13436C>T - IntronicSNV - 12/13 1
16-9876382-G-T c.2357-13436C>A - IntronicSNV - 12/13 1
16-9880781-A-G c.2356+11353T>C - IntronicSNV - 12/13 2
16-9883537-C-T c.2356+8597G>A - IntronicSNV - 12/13 1
16-9885027-T-C c.2356+7107A>G - IntronicSNV - 12/13 8
16-9885832-T-C c.2356+6302A>G - IntronicSNV - 12/13 3
16-9887244-A-G c.2356+4890T>C - IntronicSNV - 12/13 2
16-9887244-A-T c.2356+4890T>A - IntronicSNV - 12/13 2
16-9891130-C-G c.2356+1004G>C - IntronicSNV - 12/13 1
16-9892139-C-G c.2351G>C p.Gly784Ala Missense 12/14 - 2
16-9892141-CA-AC c.2348_2349delinsGT p.Val783Gly Missense 12/14 - 1
16-9892141-CAC-CAT c.2347delinsA p.Val783Met Missense 12/14 - 1
16-9892141-CAC-TTT c.2347_2349delinsAAA p.Val783Lys Missense 12/14 - 3
16-9892142-AC-TC c.2348delinsA p.Val783Glu Missense 12/14 - 1
16-9892142-AC-TG c.2347_2348delinsCA p.Val783Gln Missense 12/14 - 2
16-9892142-A-G c.2348T>C p.Val783Ala Missense 12/14 - 2
16-9892143-C-A c.2347G>T p.Val783Leu Missense 12/14 - 2
16-9892143-C-G c.2347G>C p.Val783Leu Missense 12/14 - 2
16-9892148-TG-GC c.2341_2342delinsGC p.Gln781Ala Missense 12/14 - 1
16-9892151-AG-GC c.2338_2339delinsGC p.Leu780Ala Missense 12/14 - 2
16-9892154-AA-GC c.2335_2336delinsGC p.Leu779Ala Missense 12/14 - 1
16-9892154-CAAGGC-C c.2334_2338del p.Leu779Serfs*5 Frameshift 12/14 - 3
16-9892160-AG-GC c.2329_2330delinsGC p.Leu777Ala Missense 12/14 - 1
16-9892164-C-A c.2326G>T p.Asp776Tyr Missense 12/14 - 1
16-9892164-C-T c.2326G>A p.Asp776Asn Missense 12/14 - 2
16-9892165-G-C c.2325C>G p.Ile775Met Missense 12/14 - 1
16-9892176-T-C c.2314A>G p.Lys772Glu Missense 12/14 - 4
16-9892205-C-T c.2285G>A p.Gly762Glu Missense 12/14 - 1
16-9892213-G-A c.2277C>T p.Thr759Thr Synonymous 12/14 - 2
16-9892213-G-C c.2277C>G p.Thr759Thr Synonymous 12/14 - 2
16-9892217-G-C c.2273C>G p.Thr758Ser Missense 12/14 - 1
16-9892218-T-A c.2272A>T p.Thr758Ser Missense 12/14 - 1
16-9892223-A-T c.2267T>A p.Phe756Tyr Missense 12/14 - 1
16-9892227-T-C c.2263A>G p.Ile755Val Missense 12/14 - 3
16-9892228-GTA-AAG c.2260_2262delinsCTT p.Tyr754Leu Missense 12/14 - 3
16-9892239-C-A c.2251G>T p.Gly751Trp Missense 12/14 - 1
16-9892242-T-C c.2248A>G p.Ile750Val Missense 12/14 - 1
16-9892259-C-A c.2231G>T p.Gly744Val Missense 12/14 - 1
16-9892263-C-T c.2227G>A p.Glu743Lys Missense 12/14 - 1
16-9892264-A-C c.2226T>G p.Asp742Glu Missense 12/14 - 1
16-9892264-A-T c.2226T>A p.Asp742Glu Missense 12/14 - 1
16-9892266-C-T c.2224G>A p.Asp742Asn Missense 12/14 - 1
16-9892268-C-T c.2222G>A p.Arg741Lys Missense 12/14 - 1
16-9892272-C-A c.2218G>T p.Gly740Trp Missense 12/14 - 1
16-9892272-C-G c.2218G>C p.Gly740Arg Missense 12/14 - 1
16-9892272-C-T c.2218G>A p.Gly740Arg Missense 12/14 - 1
16-9892277-T-A c.2213A>T p.Lys738Met Missense 12/14 - 3
16-9892280-TA-GC c.2209_2210delinsGC p.Tyr737Ala Missense 12/14 - 1
16-9892289-A-G c.2201T>C p.Val734Ala Missense 12/14 - 1
16-9892290-C-G c.2200G>C p.Val734Leu Missense 12/14 - 5
16-9892293-C-T c.2197G>A p.Ala733Thr Missense 12/14 - 1
16-9892297-A-C c.2193T>G p.Asp731Glu Missense 12/14 - 2
16-9892297-A-T c.2193T>A p.Asp731Glu Missense 12/14 - 2
16-9892298-T-G c.2192A>C p.Asp731Ala Missense 12/14 - 1
16-9892299-C-T c.2191G>A p.Asp731Asn Missense 12/14 - 12
16-9892300-G-A c.2190C>T p.Tyr730Tyr Synonymous 12/14 - 3
16-9892300-GTA-ATG c.2188_2190delinsCAT p.Tyr730His Missense 12/14 - 1
16-9892301-T-A c.2189A>T p.Tyr730Phe Missense 12/14 - 1
16-9892301-TA-CT c.2188_2189delinsAG p.Tyr730Ser Missense 12/14 - 1
16-9892311-C-T c.2179G>A p.Ala727Thr Missense 12/14 - 5
16-9894522-C-A c.2169-2201G>T - IntronicSNV - 11/13 3
16-9900057-T-C c.2169-7736A>G - IntronicSNV - 11/13 3
16-9907064-A-G c.2168+9057T>C - IntronicSNV - 11/13 1
16-9908091-G-A c.2168+8030C>T - IntronicSNV - 11/13 2
16-9910348-A-C c.2168+5773T>G - IntronicSNV - 11/13 1
16-9910348-A-G c.2168+5773T>C - IntronicSNV - 11/13 1
16-9911386-C-A c.2168+4735G>T - IntronicSNV - 11/13 1
16-9912643-C-T c.2168+3478G>A - IntronicSNV - 11/13 1
16-9914095-C-T c.2168+2026G>A - IntronicSNV - 11/13 1
16-9915013-A-G c.2168+1108T>C - IntronicSNV - 11/13 2
16-9915712-C-A c.2168+409G>T - IntronicSNV - 11/13 1
16-9916124-G-A c.2165C>T p.Thr722Met Missense 11/14 - 3
16-9916125-T-C c.2164A>G p.Thr722Ala Missense 11/14 - 1
16-9916142-GC-CA c.2146_2147delinsTG p.Ala716Cys Missense 11/14 - 1
16-9916143-C-T c.2146G>A p.Ala716Thr Missense 11/14 - 6
16-9916144-G-A c.2145C>T p.Asp715Asp Synonymous 11/14 - 1
16-9916147-C-A c.2142G>T p.Glu714Asp Missense 11/14 - 1
16-9916147-C-G c.2142G>C p.Glu714Asp Missense 11/14 - 1
16-9916149-C-T c.2140G>A p.Glu714Lys Missense 11/14 - 6
16-9916150-TAC-TGT c.2137_2138delinsAC p.Val713Thr Missense 11/14 - 2
16-9916151-A-G c.2138T>C p.Val713Ala Missense 11/14 - 1
16-9916153-TCC-TGT c.2134_2135delinsAC p.Gly712Thr Missense 11/14 - 1
16-9916154-C-T c.2135G>A p.Gly712Glu Missense 11/14 - 1
16-9916176-T-C c.2113A>G p.Met705Val Missense 11/14 - 5
16-9916188-T-C c.2101A>G p.Met701Val Missense 11/14 - 1
16-9916189-GTA-GAG c.2098_2099delinsCT p.Tyr700Leu Missense 11/14 - 1
16-9916194-G-A c.2095C>T p.Pro699Ser Missense 11/14 - 4
16-9916194-G-C c.2095C>G p.Pro699Ala Missense 11/14 - 1
16-9916195-A-C c.2094T>G p.Tyr698* Nonsense 11/14 - 1
16-9916199-TT-GC c.2089_2090delinsGC p.Asn697Ala Missense 11/14 - 1
16-9916204-C-G c.2085G>C p.Arg695Arg Synonymous 11/14 - 5
16-9916204-C-T c.2085G>A p.Arg695Arg Synonymous 11/14 - 4
16-9916205-C-T c.2084G>A p.Arg695Gln Missense 11/14 - 1
16-9916204-C-A c.2085G>T p.Arg695Arg Synonymous 11/14 - 1
16-9916206-G-T c.2083C>A p.Arg695Arg Synonymous 11/14 - 1
16-9916208-A-G c.2081T>C p.Ile694Thr Missense 11/14 - 5
16-9916211-TT-GC c.2077_2078delinsGC p.Asn693Ala Missense 11/14 - 1
16-9916213-TCT-GAC c.2074_2076delinsGTC p.Arg692Val Missense 11/14 - 1
16-9916215-T-A c.2074A>T p.Arg692* Nonsense 11/14 - 1
16-9916219-CG-TC c.2069_2070delinsGA p.Thr690Arg Missense 11/14 - 7
16-9916219-C-T c.2070G>A p.Thr690Thr Synonymous 11/14 - 1
16-9916220-G-A c.2069C>T p.Thr690Met Missense 11/14 - 1
16-9916221-T-C c.2068A>G p.Thr690Ala Missense 11/14 - 1
16-9916226-C-G c.2063G>C p.Gly688Ala Missense 11/14 - 1
16-9916228-ATT-CAA c.2059_2061delinsTTG p.Asn687Leu Missense 11/14 - 1
16-9916229-TT-CT c.2060delinsG p.Asn687Ser Missense 11/14 - 1
16-9916229-TT-TG c.2059delinsC p.Asn687His Missense 11/14 - 4
16-9916235-A-C c.2054T>G p.Val685Gly Missense 11/14 - 6
16-9916235-A-G c.2054T>C p.Val685Ala Missense 11/14 - 1
16-9916239-T-C c.2050A>G p.Thr684Ala Missense 11/14 - 1
16-9916247-C-T c.2042G>A p.Arg681Gln Missense 11/14 - 1
16-9916248-G-A c.2041C>T p.Arg681* Nonsense 11/14 - 5
16-9916249-A-C c.2040T>G p.Phe680Leu Missense 11/14 - 1
16-9916249-A-T c.2040T>A p.Phe680Leu Missense 11/14 - 1
16-9916251-A-G c.2038T>C p.Phe680Leu Missense 11/14 - 1
16-9916261-ATA-CAA c.2027_2028delinsTG p.Tyr676Leu Missense 11/14 - 1
16-9916262-T-A c.2027A>T p.Tyr676Phe Missense 11/14 - 1
16-9916265-T-G c.2024A>C p.Asp675Ala Missense 11/14 - 2
16-9916267-A-C c.2022T>G p.His674Gln Missense 11/14 - 1
16-9916267-A-T c.2022T>A p.His674Gln Missense 11/14 - 1
16-9916269-G-T c.2020C>A p.His674Asn Missense 11/14 - 1
16-9916272-G-T c.2017C>A p.Pro673Thr Missense 11/14 - 1
16-9916276-CTG-TGT c.2011_2013delinsACA p.Gln671Thr Missense 11/14 - 1
16-9921502-T-C c.2007+1778A>G - IntronicSNV - 10/13 4
16-9922615-T-C c.2007+665A>G - IntronicSNV - 10/13 1
16-9923279-C-T c.2007+1G>A - IntronicSNV - 10/13 2
16-9923280-C-A c.2007G>T p.Lys669Asn Missense 10/14 - 5
16-9923314-A-C c.1973T>G p.Phe658Cys Missense 10/14 - 1
16-9923328-C-T c.1959G>A p.Met653Ile Missense 10/14 - 4
16-9923330-T-C c.1957A>G p.Met653Val Missense 10/14 - 2
16-9923333-A-C c.1954T>G p.Phe652Val Missense 10/14 - 8
16-9923335-G-A c.1952C>T p.Ala651Val Missense 10/14 - 1
16-9923335-GC-TA c.1951_1952delinsTA p.Ala651Tyr Missense 10/14 - 1
16-9923336-C-T c.1951G>A p.Ala651Thr Missense 10/14 - 2
16-9923338-GC-CG c.1948_1949delinsCG p.Ala650Arg Missense 10/14 - 1
16-9923338-GC-TA c.1948_1949delinsTA p.Ala650Tyr Missense 10/14 - 1
16-9923338-GC-TG c.1948_1949delinsCA p.Ala650His Missense 10/14 - 1
16-9923341-A-G c.1946T>C p.Leu649Pro Missense 10/14 - 1
16-9923342-G-C c.1945C>G p.Leu649Val Missense 10/14 - 7
16-9923344-T-C c.1943A>G p.Asn648Ser Missense 10/14 - 2
16-9923351-T-C c.1936A>G p.Thr646Ala Missense 10/14 - 1
16-9923357-T-C c.1930A>G p.Ser644Gly Missense 10/14 - 1
16-9923359-G-T c.1928C>A p.Ala643Asp Missense 10/14 - 1
16-9923363-G-T c.1924C>A p.Leu642Met Missense 10/14 - 1
16-9923376-GA-GG c.1910delinsC p.Phe637Ser Missense 10/14 - 3
16-9923377-AA-AC c.1909delinsG p.Phe637Val Missense 10/14 - 1
16-9923377-AA-GC c.1909_1910delinsGC p.Phe637Ala Missense 10/14 - 1
16-9923377-A-C c.1910T>G p.Phe637Cys Missense 10/14 - 1
16-9923379-GA-GG c.1907delinsC p.Phe636Ser Missense 10/14 - 3
16-9923380-AA-GC c.1906_1907delinsGC p.Phe636Ala Missense 10/14 - 1
16-9923380-A-C c.1907T>G p.Phe636Cys Missense 10/14 - 3
16-9923380-A-T c.1907T>A p.Phe636Tyr Missense 10/14 - 1
16-9923379-G-C c.1908C>G p.Phe636Leu Missense 10/14 - 1
16-9923379-G-T c.1908C>A p.Phe636Leu Missense 10/14 - 1
16-9923381-A-G c.1906T>C p.Phe636Leu Missense 10/14 - 1
16-9923381-A-T c.1906T>A p.Phe636Ile Missense 10/14 - 2
16-9923383-GC-TG c.1903_1904delinsCA p.Ala635His Missense 10/14 - 2
16-9923391-AGA-AAG c.1894_1895delinsCT p.Ser632Leu Missense 10/14 - 1
16-9923391-AG-GG c.1896delinsC p.Ser632Ser Missense 10/14 - 1
16-9923392-G-A c.1895C>T p.Ser632Phe Missense 10/14 - 1
16-9923392-GA-AA c.1895delinsT p.Ser632Phe Missense 10/14 - 1
16-9923392-GA-AT c.1894_1895delinsAT p.Ser632Ile Missense 10/14 - 1
16-9923392-GA-CT c.1894_1895delinsAG p.Ser632Ser Missense 10/14 - 4
16-9923393-A-C c.1894T>G p.Ser632Ala Missense 10/14 - 1
16-9923410-G-A c.1877C>T p.Thr626Ile Missense 10/14 - 1
16-9923419-T-C c.1868A>G p.Lys623Arg Missense 10/14 - 1
16-9923429-G-C c.1858C>G p.Gln620Glu Missense 10/14 - 1
16-9923442-G-T c.1845C>A p.Asn615Lys Missense 10/14 - 13
16-9923442-GT-GG c.1844delinsC p.Asn615Thr Missense 10/14 - 1
16-9923443-TT-GG c.1843_1844delinsCC p.Asn615Pro Missense 10/14 - 3
16-9923446-T-C c.1841A>G p.Asn614Ser Missense 10/14 - 3
16-9923446-TT-GG c.1840_1841delinsCC p.Asn614Pro Missense 10/14 - 1
16-9923459-C-G c.1828G>C p.Gly610Arg Missense 10/14 - 1
16-9923469-C-T c.1818G>A p.Trp606* Nonsense 10/14 - 2
16-9923503-T-C c.1784A>G p.His595Arg Missense 10/14 - 2
16-9923503-TG-GG c.1784delinsC p.His595Pro Missense 10/14 - 1
16-9923509-G-T c.1778C>A p.Ala593Glu Missense 10/14 - 1
16-9926966-T-G c.1777+996A>C - IntronicSNV - 9/13 3
16-9927956-C-A c.1777+6G>T - IntronicSNV - 9/13 1
16-9927956-C-G c.1777+6G>C - IntronicSNV - 9/13 1
16-9927964-T-C c.1775A>G p.Lys592Arg Missense 9/14 - 1
16-9927965-T-TA c.1773_1774insT p.Lys592* Nonsense 9/14 - 1
16-9927969-T-A c.1770A>T p.Lys590Asn Missense 9/14 - 1
16-9927969-T-G c.1770A>C p.Lys590Asn Missense 9/14 - 1
16-9927969-TTT-GAC c.1768_1770delinsGTC p.Lys590Val Missense 9/14 - 1
16-9927979-TT-TG c.1759delinsC p.Asn587His Missense 9/14 - 1
16-9927982-C-T c.1757G>A p.Arg586Lys Missense 9/14 - 3
16-9927982-CT-CA c.1756delinsT p.Arg586* Missense 9/14 - 1
16-9927994-A-G c.1745T>C p.Val582Ala Missense 9/14 - 1
16-9928006-T-A c.1733A>T p.Tyr578Phe Missense 9/14 - 1
16-9928018-AA-GC c.1720_1721delinsGC p.Phe574Ala Missense 9/14 - 2
16-9928064-C-T c.1675G>A p.Val559Met Missense 9/14 - 1
16-9928066-C-G c.1673G>C p.Trp558Ser Missense 9/14 - 1
16-9928076-C-G c.1663G>C p.Ala555Pro Missense 9/14 - 2
16-9928081-AA-GC c.1657_1658delinsGC p.Phe553Ala Missense 9/14 - 2
16-9928081-A-T c.1658T>A p.Phe553Tyr Missense 9/14 - 2
16-9928080-G-C c.1659C>G p.Phe553Leu Missense 9/14 - 1
16-9928080-G-T c.1659C>A p.Phe553Leu Missense 9/14 - 1
16-9928082-A-G c.1657T>C p.Phe553Leu Missense 9/14 - 1
16-9928084-G-A c.1655C>T p.Pro552Leu Missense 9/14 - 1
16-9928084-G-C c.1655C>G p.Pro552Arg Missense 9/14 - 14
16-9928084-GG-AA c.1654_1655delinsTT p.Pro552Leu Missense 9/14 - 1
16-9928084-GG-AT c.1654_1655delinsAT p.Pro552Ile Missense 9/14 - 1
16-9928084-G-T c.1655C>A p.Pro552Gln Missense 9/14 - 1
16-9928085-G-C c.1654C>G p.Pro552Ala Missense 9/14 - 2
16-9928087-T-G c.1652A>C p.Glu551Ala Missense 9/14 - 1
16-9930580-T-C c.1652-2493A>G - IntronicSNV - 8/13 3
16-9934506-AG-GC c.1648_1649delinsGC p.Leu550Ala Missense 8/14 - 1
16-9934513-C-T c.1642G>A p.Ala548Thr Missense 8/14 - 8
16-9934516-GAAG-G c.1639_1641del p.Ser547del InFrameDeletion 8/14 - 3
16-9934542-G-C c.1613C>G p.Ser538* Nonsense 8/14 - 1
16-9934563-G-A c.1592C>T p.Thr531Met Missense 8/14 - 8
16-9934565-TTC-TGT c.1588_1589delinsAC p.Glu530Thr Missense 8/14 - 1
16-9934568-CAC-ATC c.1586_1587delinsAT p.Val529Asp Missense 8/14 - 1
16-9934569-CA-C c.1586del p.Val529Glyfs*22 Frameshift 8/14 - 1
16-9934570-AC-A c.1585del p.Val529Trpfs*22 Frameshift 8/14 - 1
16-9934576-G-C c.1579C>G p.Pro527Ala Missense 8/14 - 1
16-9934594-C-T c.1561G>A p.Val521Met Missense 8/14 - 1
16-9934596-T-A c.1559A>T p.Glu520Val Missense 8/14 - 1
16-9934601-ACG-AAG c.1553delinsT p.Arg518Leu Missense 8/14 - 9
16-9934602-C-T c.1553G>A p.Arg518His Missense 8/14 - 8
16-9934603-G-A c.1552C>T p.Arg518Cys Missense 8/14 - 1
16-9934607-CTC-TAT c.1546_1548delinsATA p.Glu516Ile Missense 8/14 - 1
16-9934607-CTC-TGT c.1546_1548delinsACA p.Glu516Thr Missense 8/14 - 2
16-9934638-A-G c.1517T>C p.Val506Ala Missense 8/14 - 3
16-9934639-C-G c.1516G>C p.Val506Leu Missense 8/14 - 1
16-9934644-C-T c.1511G>A p.Arg504Gln Missense 8/14 - 1
16-9934645-G-A c.1510C>T p.Arg504Trp Missense 8/14 - 5
16-9934649-ATA-GAG c.1504_1506delinsCTC p.Tyr502Leu Missense 8/14 - 1
16-9934650-T-A c.1505A>T p.Tyr502Phe Missense 8/14 - 1
16-9934689-A-G c.1498-32T>C - IntronicSNV - 7/13 1
16-9934691-G-A c.1498-34C>T - IntronicSNV - 7/13 1
16-9934691-G-T c.1498-34C>A - IntronicSNV - 7/13 1
16-9934797-C-G c.1493G>C p.Gly498Ala Missense 7/14 - 1
16-9934800-A-G c.1490T>C p.Ile497Thr Missense 7/14 - 1
16-9934829-CTT-TGT c.1460_1461delinsCA p.Lys487Thr Missense 7/14 - 4
16-9934830-TT-GC c.1459_1460delinsGC p.Lys487Ala Missense 7/14 - 1
16-9934836-TG-GC c.1453_1454delinsGC p.His485Ala Missense 7/14 - 1
16-9934843-C-T c.1447G>A p.Gly483Arg Missense 7/14 - 6
16-9934845-T-C c.1445A>G p.Asn482Ser Missense 7/14 - 1
16-9934848-G-A c.1442C>T p.Thr481Ile Missense 7/14 - 1
16-9934879-C-T c.1411G>A p.Val471Met Missense 7/14 - 1
16-9934881-G-T c.1409C>A p.Thr470Asn Missense 7/14 - 1
16-9934902-A-C c.1388T>G p.Ile463Ser Missense 7/14 - 1
16-9934904-A-C c.1386T>G p.Asp462Glu Missense 7/14 - 1
16-9934904-A-T c.1386T>A p.Asp462Glu Missense 7/14 - 1
16-9934914-A-G c.1376T>C p.Phe459Ser Missense 7/14 - 1
16-9934913-G-C c.1377C>G p.Phe459Leu Missense 7/14 - 1
16-9934913-G-T c.1377C>A p.Phe459Leu Missense 7/14 - 1
16-9934915-A-G c.1375T>C p.Phe459Leu Missense 7/14 - 1
16-9934936-C-T c.1354G>A p.Val452Met Missense 7/14 - 4
16-9934938-T-C c.1352A>G p.Asn451Ser Missense 7/14 - 1
16-9934944-C-T c.1346G>A p.Gly449Glu Missense 7/14 - 1
16-9934946-C-A c.1344G>T p.Glu448Asp Missense 7/14 - 1
16-9934946-C-G c.1344G>C p.Glu448Asp Missense 7/14 - 1
16-9934949-A-T c.1341T>A p.Asn447Lys Missense 7/14 - 3
16-9934949-ATT-GAG c.1339_1341delinsCTC p.Asn447Leu Missense 7/14 - 1
16-9934950-TT-GC c.1339_1340delinsGC p.Asn447Ala Missense 7/14 - 1
16-9934959-T-C c.1331A>G p.Asn444Ser Missense 7/14 - 1
16-9935066-T-G c.1329-105A>C - IntronicSNV - 6/13 3
16-9937980-T-C c.1329-3019A>G - IntronicSNV - 6/13 1
16-9938796-C-T c.1329-3835G>A - IntronicSNV - 6/13 3
16-9940293-C-T c.1328+3320G>A - IntronicSNV - 6/13 3
16-9943618-T-A c.1323A>T p.Lys441Asn Missense 6/14 - 1
16-9943618-T-G c.1323A>C p.Lys441Asn Missense 6/14 - 1
16-9943619-T-G c.1322A>C p.Lys441Thr Missense 6/14 - 1
16-9943622-A-G c.1319T>C p.Val440Ala Missense 6/14 - 1
16-9943623-C-G c.1318G>C p.Val440Leu Missense 6/14 - 1
16-9943623-C-T c.1318G>A p.Val440Ile Missense 6/14 - 2
16-9943626-A-T c.1315T>A p.Phe439Ile Missense 6/14 - 1
16-9943627-C-A c.1314G>T p.Lys438Asn Missense 6/14 - 1
16-9943627-C-G c.1314G>C p.Lys438Asn Missense 6/14 - 1
16-9943631-C-T c.1310G>A p.Arg437Gln Missense 6/14 - 1
16-9943635-A-G c.1306T>C p.Cys436Arg Missense 6/14 - 5
16-9943661-T-C c.1280A>G p.Glu427Gly Missense 6/14 - 1
16-9943662-C-G c.1279G>C p.Glu427Gln Missense 6/14 - 1
16-9943666-C-T c.1275G>A p.Leu425Leu Synonymous 6/14 - 5
16-9943668-G-C c.1273C>G p.Leu425Val Missense 6/14 - 1
16-9943670-G-A c.1271C>T p.Pro424Leu Missense 6/14 - 1
16-9943670-G-T c.1271C>A p.Pro424His Missense 6/14 - 1
16-9943672-G-C c.1269C>G p.Asp423Glu Missense 6/14 - 1
16-9943672-G-T c.1269C>A p.Asp423Glu Missense 6/14 - 1
16-9943690-G-A c.1251C>T p.Val417Val Synonymous 6/14 - 1
16-9943690-G-T c.1251C>A p.Val417Val Synonymous 6/14 - 1
16-9943692-C-T c.1249G>A p.Val417Ile Missense 6/14 - 1
16-9943694-AA-GC c.1246_1247delinsGC p.Phe416Ala Missense 6/14 - 1
16-9943700-GC-CG c.1240_1241delinsCG p.Ala414Arg Missense 6/14 - 1
16-9943725-G-T c.1216C>A p.Leu406Ile Missense 6/14 - 1
16-9943730-TT-TG c.1210delinsC p.Asn404His Missense 6/14 - 1
16-9943745-CA-GC c.1195_1196delinsGC p.Cys399Ala Missense 6/14 - 3
16-9943745-C-G c.1196G>C p.Cys399Ser Missense 6/14 - 1
16-9943746-A-T c.1195T>A p.Cys399Ser Missense 6/14 - 1
16-9943777-G-A c.1164C>T p.Ala388Ala Synonymous 6/14 - 1
16-9943777-G-C c.1164C>G p.Ala388Ala Synonymous 6/14 - 1
16-9943802-T-G c.1139A>C p.Asn380Thr Missense 6/14 - 1
16-9943817-A-G c.1124T>C p.Val375Ala Missense 6/14 - 1
16-9943820-T-C c.1123-2A>G - IntronicSNV - 5/13 1
16-9943995-A-G c.1123-177T>C - IntronicSNV - 5/13 1
16-9946319-G-A c.1123-2501C>T - IntronicSNV - 5/13 24
16-9946319-G-C c.1123-2501C>G - IntronicSNV - 5/13 24
16-9947581-A-C c.1123-3763T>G - IntronicSNV - 5/13 2
16-9948320-G-A c.1123-4502C>T - IntronicSNV - 5/13 1
16-9948320-G-C c.1123-4502C>G - IntronicSNV - 5/13 1
16-9948634-G-A c.1123-4816C>T - IntronicSNV - 5/13 3
16-9949936-A-G c.1123-6118T>C - IntronicSNV - 5/13 2
16-9953399-C-T c.1123-9581G>A - IntronicSNV - 5/13 1
16-9953672-T-A c.1123-9854A>T - IntronicSNV - 5/13 1
16-9955564-C-T c.1123-11746G>A - IntronicSNV - 5/13 3
16-9958655-T-C c.1123-14837A>G - IntronicSNV - 5/13 3
16-9961397-T-C c.1123-17579A>G - IntronicSNV - 5/13 1
16-9966139-C-T c.1122+18704G>A - IntronicSNV - 5/13 2
16-9966207-T-C c.1122+18636A>G - IntronicSNV - 5/13 1
16-9968503-A-G c.1122+16340T>C - IntronicSNV - 5/13 2
16-9970875-A-T c.1122+13968T>A - IntronicSNV - 5/13 1
16-9971066-C-A c.1122+13777G>T - IntronicSNV - 5/13 1
16-9971066-C-T c.1122+13777G>A - IntronicSNV - 5/13 1
16-9974366-T-C c.1122+10477A>G - IntronicSNV - 5/13 2
16-9978552-A-C c.1122+6291T>G - IntronicSNV - 5/13 1
16-9978552-A-G c.1122+6291T>C - IntronicSNV - 5/13 1
16-9978552-A-T c.1122+6291T>A - IntronicSNV - 5/13 1
16-9984523-C-T c.1122+320G>A - IntronicSNV - 5/13 2
16-9984848-C-T c.1117G>A p.Glu373Lys Missense 5/14 - 2
16-9984849-C-T c.1116G>A p.Trp372* Nonsense 5/14 - 3
16-9984850-C-T c.1115G>A p.Trp372* Nonsense 5/14 - 3
16-9984854-C-A c.1111G>T p.Glu371* Nonsense 5/14 - 1
16-9984854-C-T c.1111G>A p.Glu371Lys Missense 5/14 - 4
16-9984857-G-A c.1108C>T p.Arg370Trp Missense 5/14 - 6
16-9984860-C-T c.1105G>A p.Asp369Asn Missense 5/14 - 1
16-9984919-G-A c.1046C>T p.Ser349Phe Missense 5/14 - 1
16-9984936-C-T c.1029G>A p.Trp343* Nonsense 5/14 - 1
16-9984937-C-T c.1028G>A p.Trp343* Nonsense 5/14 - 1
16-9985421-A-G c.1008-464T>C - IntronicSNV - 4/13 1
16-9986849-G-A c.1008-1892C>T - IntronicSNV - 4/13 1
16-9986993-T-C c.1008-2036A>G - IntronicSNV - 4/13 1
16-9988564-A-G c.1008-3607T>C - IntronicSNV - 4/13 2
16-9989352-T-C c.1008-4395A>G - IntronicSNV - 4/13 1
16-9989840-C-T c.1008-4883G>A - IntronicSNV - 4/13 1
16-9991762-G-T c.1008-6805C>A - IntronicSNV - 4/13 2
16-9996060-T-C c.1008-11103A>G - IntronicSNV - 4/13 1
16-10002419-C-A c.1008-17462G>T - IntronicSNV - 4/13 1
16-10002419-C-G c.1008-17462G>C - IntronicSNV - 4/13 1
16-10002419-C-T c.1008-17462G>A - IntronicSNV - 4/13 1
16-10002809-A-G c.1008-17852T>C - IntronicSNV - 4/13 4
16-10002862-T-G c.1008-17905A>C - IntronicSNV - 4/13 2
16-10006967-T-C c.1008-22010A>G - IntronicSNV - 4/13 3
16-10010123-A-G c.1007+21693T>C - IntronicSNV - 4/13 1
16-10019825-A-G c.1007+11991T>C - IntronicSNV - 4/13 1
16-10019899-C-T c.1007+11917G>A - IntronicSNV - 4/13 1
16-10022719-C-T c.1007+9097G>A - IntronicSNV - 4/13 1
16-10025315-G-A c.1007+6501C>T - IntronicSNV - 4/13 1
16-10027116-T-G c.1007+4700A>C - IntronicSNV - 4/13 2
16-10031815-C-A c.1007+1G>T - IntronicSNV - 4/13 3
16-10031815-C-T c.1007+1G>A - IntronicSNV - 4/13 4
16-10031822-A-T c.1001T>A p.Leu334* Nonsense 4/14 - 2
16-10031881-G-A c.942C>T p.Pro314Pro Synonymous 4/14 - 1
16-10031881-G-C c.942C>G p.Pro314Pro Synonymous 4/14 - 1
16-10031884-G-A c.939C>T p.Ile313Ile Synonymous 4/14 - 1
16-10031899-C-A c.924G>T p.Glu308Asp Missense 4/14 - 1
16-10031899-C-G c.924G>C p.Glu308Asp Missense 4/14 - 1
16-10031903-A-T c.920T>A p.Leu307Gln Missense 4/14 - 1
16-10031919-C-A c.904G>T p.Ala302Ser Missense 4/14 - 1
16-10031919-C-T c.904G>A p.Ala302Thr Missense 4/14 - 2
16-10031920-G-A c.903C>T p.Thr301Thr Synonymous 4/14 - 1
16-10031920-G-T c.903C>A p.Thr301Thr Synonymous 4/14 - 1
16-10031923-G-A c.900C>T p.Thr300Thr Synonymous 4/14 - 1
16-10031923-G-C c.900C>G p.Thr300Thr Synonymous 4/14 - 1
16-10031940-C-T c.883G>A p.Gly295Ser Missense 4/14 - 3
16-10031954-G-A c.869C>T p.Ala290Val Missense 4/14 - 2
16-10031965-G-T c.858C>A p.Tyr286* Nonsense 4/14 - 1
16-10031968-GTC-AAG c.853_855delinsCTT p.Asp285Leu Missense 4/14 - 1
16-10031975-T-G c.848A>C p.Asp283Ala Missense 4/14 - 1
16-10031979-C-G c.844G>C p.Asp282His Missense 4/14 - 1
16-10031981-T-C c.842A>G p.Tyr281Cys Missense 4/14 - 1
16-10031990-G-A c.833C>T p.Ser278Phe Missense 4/14 - 3
16-10032026-T-G c.797A>C p.Glu266Ala Missense 4/14 - 1
16-10032031-GTT-TGG c.790_792delinsCCA p.Asn264Pro Missense 4/14 - 1
16-10032032-TT-GC c.790_791delinsGC p.Asn264Ala Missense 4/14 - 1
16-10032069-C-T c.754G>A p.Asp252Asn Missense 4/14 - 1
16-10032073-CCC-AGC c.749_750delinsCT p.Gly250Ala Missense 4/14 - 1
16-10032075-C-T c.748G>A p.Gly250Arg Missense 4/14 - 1
16-10032082-G-A c.741C>T p.Gly247Gly Synonymous 4/14 - 1
16-10032095-G-A c.728C>T p.Ala243Val Missense 4/14 - 5
16-10032110-AG-TA c.712_713delinsTA p.Leu238Tyr Missense 4/14 - 1
16-10032125-T-C c.698A>G p.Lys233Arg Missense 4/14 - 1
16-10032125-TT-GC c.697_698delinsGC p.Lys233Ala Missense 4/14 - 1
16-10032129-A-T c.694T>A p.Ser232Thr Missense 4/14 - 1
16-10032131-C-T c.692G>A p.Cys231Tyr Missense 4/14 - 6
16-10032131-C-G c.692G>C p.Cys231Ser Missense 4/14 - 3
16-10032132-A-T c.691T>A p.Cys231Ser Missense 4/14 - 3
16-10032153-A-T c.670T>A p.Ser224Thr Missense 4/14 - 1
16-10032154-G-A c.669C>T p.His223His Synonymous 4/14 - 1
16-10032157-G-A c.666C>T p.Ile222Ile Synonymous 4/14 - 1
16-10032161-T-C c.662A>G p.Lys221Arg Missense 4/14 - 1
16-10032171-G-A c.652C>T p.Gln218* Nonsense 4/14 - 2
16-10032190-CTC-TGT c.631_633delinsACA p.Glu211Thr Missense 4/14 - 1
16-10032197-G-C c.626C>G p.Ser209Cys Missense 4/14 - 1
16-10032200-G-C c.623C>G p.Thr208Ser Missense 4/14 - 1
16-10032201-T-A c.622A>T p.Thr208Ser Missense 4/14 - 1
16-10032210-T-C c.613A>G p.Thr205Ala Missense 4/14 - 1
16-10032229-C-T c.594G>A p.Trp198* Nonsense 4/14 - 2
16-10032235-CAC-TGT c.586_588delinsACA p.Val196Thr Missense 4/14 - 1
16-10032257-GT-TG c.565_566delinsCA p.Thr189His Missense 4/14 - 1
16-10032264-C-T c.559G>A p.Val187Ile Missense 4/14 - 1
16-10032265-G-A c.558C>T p.Phe186Phe Synonymous 4/14 - 1
16-10032272-A-C c.551T>G p.Ile184Ser Missense 4/14 - 5
16-10032272-A-G c.551T>C p.Ile184Thr Missense 4/14 - 2
16-10032276-A-T c.547T>A p.Phe183Ile Missense 4/14 - 4
16-10032280-CCT-TGT c.542_543delinsCA p.Arg181Thr Missense 4/14 - 1
16-10032281-CC-C c.544del p.Glu182Asnfs*22 Frameshift 4/14 - 1
16-10032281-CT-GA c.541_542delinsTC p.Arg181Ser Missense 4/14 - 1
16-10032284-T-C c.539A>G p.Tyr180Cys Missense 4/14 - 1
16-10032292-G-A c.531C>T p.Phe177Phe Synonymous 4/14 - 1
16-10032296-AT-TA c.526_527delinsTA p.Ile176Tyr Missense 4/14 - 1
16-10032306-C-A c.517G>T p.Val173Leu Missense 4/14 - 1
16-10032306-C-G c.517G>C p.Val173Leu Missense 4/14 - 1
16-10032327-C-T c.496G>A p.Asp166Asn Missense 4/14 - 1
16-10032336-G-A c.487C>T p.Gln163* Nonsense 4/14 - 1
16-10032355-CG-TC c.467_468delinsGA p.Thr156Arg Missense 4/14 - 1
16-10032377-G-A c.446C>T p.Ala149Val Missense 4/14 - 1
16-10032381-C-CC c.443dup p.Ala149Serfs*18 Frameshift 4/14 - 1
16-10032395-G-A c.428C>T p.Thr143Ile Missense 4/14 - 1
16-10032401-G-A c.422C>T p.Thr141Met Missense 4/14 - 2
16-10032401-G-T c.422C>A p.Thr141Lys Missense 4/14 - 1
16-10032405-G-C c.418C>G p.Pro140Ala Missense 4/14 - 1
16-10032717-C-T c.415-309G>A - IntronicSNV - 3/13 1
16-10033918-A-G c.415-1510T>C - IntronicSNV - 3/13 1
16-10033918-A-T c.415-1510T>A - IntronicSNV - 3/13 1
16-10034276-T-A c.415-1868A>T - IntronicSNV - 3/13 6
16-10034276-T-G c.415-1868A>C - IntronicSNV - 3/13 6
16-10035240-A-G c.415-2832T>C - IntronicSNV - 3/13 1
16-10038232-T-A c.415-5824A>T - IntronicSNV - 3/13 2
16-10038322-C-A c.415-5914G>T - IntronicSNV - 3/13 1
16-10041823-C-A c.415-9415G>T - IntronicSNV - 3/13 1
16-10041823-C-T c.415-9415G>A - IntronicSNV - 3/13 1
16-10042401-G-A c.415-9993C>T - IntronicSNV - 3/13 3
16-10044700-T-C c.415-12292A>G - IntronicSNV - 3/13 1
16-10046693-G-C c.415-14285C>G - IntronicSNV - 3/13 1
16-10046693-G-T c.415-14285C>A - IntronicSNV - 3/13 1
16-10047932-A-C c.415-15524T>G - IntronicSNV - 3/13 2
16-10047932-A-T c.415-15524T>A - IntronicSNV - 3/13 2
16-10048583-T-C c.415-16175A>G - IntronicSNV - 3/13 1
16-10048583-T-G c.415-16175A>C - IntronicSNV - 3/13 1
16-10049902-T-G c.415-17494A>C - IntronicSNV - 3/13 1
16-10052349-G-A c.415-19941C>T - IntronicSNV - 3/13 1
16-10052440-T-C c.415-20032A>G - IntronicSNV - 3/13 2
16-10052960-C-T c.415-20552G>A - IntronicSNV - 3/13 1
16-10054912-A-G c.415-22504T>C - IntronicSNV - 3/13 1
16-10055461-T-G c.415-23053A>C - IntronicSNV - 3/13 1
16-10057591-T-C c.415-25183A>G - IntronicSNV - 3/13 1
16-10057710-C-T c.415-25302G>A - IntronicSNV - 3/13 1
16-10058574-C-T c.415-26166G>A - IntronicSNV - 3/13 1
16-10059007-A-C c.415-26599T>G - IntronicSNV - 3/13 2
16-10059007-A-G c.415-26599T>C - IntronicSNV - 3/13 2
16-10059007-A-T c.415-26599T>A - IntronicSNV - 3/13 2
16-10059322-T-C c.415-26914A>G - IntronicSNV - 3/13 1
16-10059826-T-C c.415-27418A>G - IntronicSNV - 3/13 1
16-10060108-C-A c.415-27700G>T - IntronicSNV - 3/13 1
16-10060108-C-G c.415-27700G>C - IntronicSNV - 3/13 1
16-10060921-G-C c.415-28513C>G - IntronicSNV - 3/13 1
16-10062615-C-T c.415-30207G>A - IntronicSNV - 3/13 1
16-10063086-C-A c.415-30678G>T - IntronicSNV - 3/13 1
16-10063086-C-T c.415-30678G>A - IntronicSNV - 3/13 1
16-10063339-A-G c.415-30931T>C - IntronicSNV - 3/13 1
16-10063593-A-G c.415-31185T>C - IntronicSNV - 3/13 2
16-10064806-G-A c.415-32398C>T - IntronicSNV - 3/13 1
16-10065136-T-G c.415-32728A>C - IntronicSNV - 3/13 2
16-10065680-A-T c.415-33272T>A - IntronicSNV - 3/13 1
16-10066411-G-A c.415-34003C>T - IntronicSNV - 3/13 1
16-10066411-G-C c.415-34003C>G - IntronicSNV - 3/13 1
16-10067543-C-A c.415-35135G>T - IntronicSNV - 3/13 1
16-10069081-G-A c.415-36673C>T - IntronicSNV - 3/13 1
16-10070545-C-T c.415-38137G>A - IntronicSNV - 3/13 19
16-10070578-C-T c.415-38170G>A - IntronicSNV - 3/13 1
16-10070739-G-A c.415-38331C>T - IntronicSNV - 3/13 1
16-10070739-G-T c.415-38331C>A - IntronicSNV - 3/13 1
16-10070895-A-G c.415-38487T>C - IntronicSNV - 3/13 2
16-10071070-G-A c.415-38662C>T - IntronicSNV - 3/13 1
16-10071193-A-G c.415-38785T>C - IntronicSNV - 3/13 1
16-10071193-A-T c.415-38785T>A - IntronicSNV - 3/13 1
16-10071498-C-T c.415-39090G>A - IntronicSNV - 3/13 1
16-10071604-A-G c.415-39196T>C - IntronicSNV - 3/13 1
16-10071789-G-A c.415-39381C>T - IntronicSNV - 3/13 1
16-10072137-T-C c.415-39729A>G - IntronicSNV - 3/13 1
16-10072629-C-G c.415-40221G>C - IntronicSNV - 3/13 1
16-10072629-C-T c.415-40221G>A - IntronicSNV - 3/13 1
16-10074142-T-A c.415-41734A>T - IntronicSNV - 3/13 1
16-10074142-T-G c.415-41734A>C - IntronicSNV - 3/13 1
16-10075994-T-C c.415-43586A>G - IntronicSNV - 3/13 1
16-10078695-G-T c.415-46287C>A - IntronicSNV - 3/13 1
16-10079124-G-A c.415-46716C>T - IntronicSNV - 3/13 5
16-10080032-A-T c.415-47624T>A - IntronicSNV - 3/13 1
16-10080185-A-G c.415-47777T>C - IntronicSNV - 3/13 2
16-10081285-A-G c.415-48877T>C - IntronicSNV - 3/13 1
16-10081285-A-T c.415-48877T>A - IntronicSNV - 3/13 1
16-10081287-G-A c.415-48879C>T - IntronicSNV - 3/13 1
16-10082751-G-C c.415-50343C>G - IntronicSNV - 3/13 5
16-10082751-G-T c.415-50343C>A - IntronicSNV - 3/13 5
16-10088063-C-T c.415-55655G>A - IntronicSNV - 3/13 1
16-10088149-G-A c.415-55741C>T - IntronicSNV - 3/13 2
16-10088563-A-G c.415-56155T>C - IntronicSNV - 3/13 1
16-10092549-T-C c.415-60141A>G - IntronicSNV - 3/13 1
16-10094138-G-A c.415-61730C>T - IntronicSNV - 3/13 1
16-10094138-G-C c.415-61730C>G - IntronicSNV - 3/13 1
16-10094546-C-T c.415-62138G>A - IntronicSNV - 3/13 2
16-10095199-T-C c.415-62791A>G - IntronicSNV - 3/13 2
16-10095387-A-G c.415-62979T>C - IntronicSNV - 3/13 2
16-10095448-C-T c.415-63040G>A - IntronicSNV - 3/13 1
16-10095503-C-T c.415-63095G>A - IntronicSNV - 3/13 1
16-10099086-T-C c.415-66678A>G - IntronicSNV - 3/13 1
16-10099095-A-T c.415-66687T>A - IntronicSNV - 3/13 1
16-10099543-A-C c.415-67135T>G - IntronicSNV - 3/13 1
16-10102906-T-C c.415-70498A>G - IntronicSNV - 3/13 1
16-10103058-A-G c.415-70650T>C - IntronicSNV - 3/13 2
16-10105460-T-C c.415-73052A>G - IntronicSNV - 3/13 3
16-10106274-A-G c.415-73866T>C - IntronicSNV - 3/13 1
16-10108658-C-G c.415-76250G>C - IntronicSNV - 3/13 1
16-10108788-A-G c.415-76380T>C - IntronicSNV - 3/13 3
16-10108788-A-T c.415-76380T>A - IntronicSNV - 3/13 3
16-10109393-T-C c.415-76985A>G - IntronicSNV - 3/13 1
16-10110040-A-G c.415-77632T>C - IntronicSNV - 3/13 1
16-10110691-G-T c.415-78283C>A - IntronicSNV - 3/13 1
16-10112025-G-A c.415-79617C>T - IntronicSNV - 3/13 1
16-10112025-G-C c.415-79617C>G - IntronicSNV - 3/13 1
16-10112199-T-C c.415-79791A>G - IntronicSNV - 3/13 1
16-10112199-T-G c.415-79791A>C - IntronicSNV - 3/13 1
16-10112259-A-C c.415-79851T>G - IntronicSNV - 3/13 1
16-10112308-C-A c.415-79900G>T - IntronicSNV - 3/13 1
16-10112308-C-T c.415-79900G>A - IntronicSNV - 3/13 1
16-10112640-G-C c.415-80232C>G - IntronicSNV - 3/13 1
16-10112640-G-T c.415-80232C>A - IntronicSNV - 3/13 1
16-10113425-T-C c.415-81017A>G - IntronicSNV - 3/13 1
16-10114339-C-G c.415-81931G>C - IntronicSNV - 3/13 1
16-10114339-C-T c.415-81931G>A - IntronicSNV - 3/13 1
16-10114558-T-C c.415-82150A>G - IntronicSNV - 3/13 6
16-10115364-C-A c.415-82956G>T - IntronicSNV - 3/13 1
16-10115488-C-G c.415-83080G>C - IntronicSNV - 3/13 6
16-10116699-C-A c.415-84291G>T - IntronicSNV - 3/13 1
16-10116699-C-G c.415-84291G>C - IntronicSNV - 3/13 1
16-10116699-C-T c.415-84291G>A - IntronicSNV - 3/13 1
16-10117137-G-A c.415-84729C>T - IntronicSNV - 3/13 14
16-10117537-G-C c.415-85129C>G - IntronicSNV - 3/13 1
16-10117555-G-A c.415-85147C>T - IntronicSNV - 3/13 1
16-10119067-T-A c.415-86659A>T - IntronicSNV - 3/13 1
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16-10170369-C-T c.414+103486G>A - IntronicSNV - 3/13 1
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16-10170467-C-T c.414+103388G>A - IntronicSNV - 3/13 1
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16-10173075-T-C c.414+100780A>G - IntronicSNV - 3/13 1
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16-10175318-T-G c.414+98537A>C - IntronicSNV - 3/13 1
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16-10176042-C-T c.414+97813G>A - IntronicSNV - 3/13 2
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16-10177508-G-C c.414+96347C>G - IntronicSNV - 3/13 1
16-10177508-G-T c.414+96347C>A - IntronicSNV - 3/13 1
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16-10177510-T-C c.414+96345A>G - IntronicSNV - 3/13 1
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16-10179147-G-C c.414+94708C>G - IntronicSNV - 3/13 1
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16-10179958-T-G c.414+93897A>C - IntronicSNV - 3/13 1
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16-10180223-G-T c.414+93632C>A - IntronicSNV - 3/13 5
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16-10187716-C-T c.414+86139G>A - IntronicSNV - 3/13 1
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16-10188060-G-T c.414+85795C>A - IntronicSNV - 3/13 3
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16-10188899-G-T c.414+84956C>A - IntronicSNV - 3/13 1
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16-10195584-C-T c.414+78271G>A - IntronicSNV - 3/13 1
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16-10206665-T-G c.414+67190A>C - IntronicSNV - 3/13 1
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16-10210459-A-T c.414+63396T>A - IntronicSNV - 3/13 1
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16-10215813-G-C c.414+58042C>G - IntronicSNV - 3/13 2
16-10215813-G-T c.414+58042C>A - IntronicSNV - 3/13 2
16-10216024-G-A c.414+57831C>T - IntronicSNV - 3/13 1
16-10216024-G-C c.414+57831C>G - IntronicSNV - 3/13 1
16-10216457-C-A c.414+57398G>T - IntronicSNV - 3/13 1
16-10216457-C-T c.414+57398G>A - IntronicSNV - 3/13 1
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16-10216906-C-T c.414+56949G>A - IntronicSNV - 3/13 1
16-10217096-C-A c.414+56759G>T - IntronicSNV - 3/13 2
16-10217416-T-A c.414+56439A>T - IntronicSNV - 3/13 1
16-10217416-T-C c.414+56439A>G - IntronicSNV - 3/13 1
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16-10218725-C-G c.414+55130G>C - IntronicSNV - 3/13 1
16-10218725-C-T c.414+55130G>A - IntronicSNV - 3/13 1
16-10220611-T-A c.414+53244A>T - IntronicSNV - 3/13 1
16-10220611-T-C c.414+53244A>G - IntronicSNV - 3/13 1
16-10220866-C-T c.414+52989G>A - IntronicSNV - 3/13 1
16-10220961-C-A c.414+52894G>T - IntronicSNV - 3/13 1
16-10220961-C-T c.414+52894G>A - IntronicSNV - 3/13 1
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16-10221970-A-G c.414+51885T>C - IntronicSNV - 3/13 1
16-10221970-A-T c.414+51885T>A - IntronicSNV - 3/13 1
16-10222808-C-T c.414+51047G>A - IntronicSNV - 3/13 1
16-10223455-A-C c.414+50400T>G - IntronicSNV - 3/13 2
16-10225050-C-A c.414+48805G>T - IntronicSNV - 3/13 2
16-10225050-C-T c.414+48805G>A - IntronicSNV - 3/13 2
16-10229372-G-A c.414+44483C>T - IntronicSNV - 3/13 1
16-10230253-G-T c.414+43602C>A - IntronicSNV - 3/13 1
16-10232086-A-C c.414+41769T>G - IntronicSNV - 3/13 1
16-10232086-A-T c.414+41769T>A - IntronicSNV - 3/13 1
16-10233128-A-C c.414+40727T>G - IntronicSNV - 3/13 1
16-10234921-T-C c.414+38934A>G - IntronicSNV - 3/13 1
16-10235992-A-G c.414+37863T>C - IntronicSNV - 3/13 9
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16-10239794-T-G c.414+34061A>C - IntronicSNV - 3/13 1
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16-10241583-A-G c.414+32272T>C - IntronicSNV - 3/13 1
16-10241583-A-T c.414+32272T>A - IntronicSNV - 3/13 1
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16-10243426-G-C c.414+30429C>G - IntronicSNV - 3/13 1
16-10243426-G-T c.414+30429C>A - IntronicSNV - 3/13 1
16-10244494-C-T c.414+29361G>A - IntronicSNV - 3/13 1
16-10245670-A-C c.414+28185T>G - IntronicSNV - 3/13 8
16-10245670-A-G c.414+28185T>C - IntronicSNV - 3/13 8
16-10246369-T-C c.414+27486A>G - IntronicSNV - 3/13 1
16-10246388-C-G c.414+27467G>C - IntronicSNV - 3/13 2
16-10246388-C-T c.414+27467G>A - IntronicSNV - 3/13 2
16-10246637-G-A c.414+27218C>T - IntronicSNV - 3/13 1
16-10247304-A-G c.414+26551T>C - IntronicSNV - 3/13 2
16-10248064-G-A c.414+25791C>T - IntronicSNV - 3/13 4
16-10248064-G-C c.414+25791C>G - IntronicSNV - 3/13 4
16-10248064-G-T c.414+25791C>A - IntronicSNV - 3/13 4
16-10248694-G-A c.414+25161C>T - IntronicSNV - 3/13 2
16-10248860-G-T c.414+24995C>A - IntronicSNV - 3/13 1
16-10249416-T-C c.414+24439A>G - IntronicSNV - 3/13 1
16-10249868-C-T c.414+23987G>A - IntronicSNV - 3/13 1
16-10249882-C-T c.414+23973G>A - IntronicSNV - 3/13 1
16-10250659-T-A c.414+23196A>T - IntronicSNV - 3/13 2
16-10250659-T-C c.414+23196A>G - IntronicSNV - 3/13 2
16-10251791-A-G c.414+22064T>C - IntronicSNV - 3/13 2
16-10251791-A-T c.414+22064T>A - IntronicSNV - 3/13 2
16-10252233-C-A c.414+21622G>T - IntronicSNV - 3/13 1
16-10256135-G-C c.414+17720C>G - IntronicSNV - 3/13 8
16-10256135-G-T c.414+17720C>A - IntronicSNV - 3/13 8
16-10261812-T-C c.414+12043A>G - IntronicSNV - 3/13 10
16-10263950-A-T c.414+9905T>A - IntronicSNV - 3/13 9
16-10265157-G-A c.414+8698C>T - IntronicSNV - 3/13 2
16-10265157-G-T c.414+8698C>A - IntronicSNV - 3/13 2
16-10265174-T-C c.414+8681A>G - IntronicSNV - 3/13 2
16-10265596-A-G c.414+8259T>C - IntronicSNV - 3/13 1
16-10268330-T-C c.414+5525A>G - IntronicSNV - 3/13 13
16-10268731-T-A c.414+5124A>T - IntronicSNV - 3/13 1
16-10268731-T-C c.414+5124A>G - IntronicSNV - 3/13 1
16-10269198-C-T c.414+4657G>A - IntronicSNV - 3/13 3
16-10270314-T-C c.414+3541A>G - IntronicSNV - 3/13 3
16-10271394-C-A c.414+2461G>T - IntronicSNV - 3/13 1
16-10271895-C-G c.414+1960G>C - IntronicSNV - 3/13 1
16-10273848-G-A c.414+7C>T - IntronicSNV - 3/13 1
16-10273872-T-C c.397A>G p.Met133Val Missense 3/14 - 1
16-10273875-A-C c.394T>G p.Ser132Ala Missense 3/14 - 1
16-10273886-TG-AG c.383delinsT p.His128Leu Missense 3/14 - 7
16-10273886-TG-GC c.382_383delinsGC p.His128Ala Missense 3/14 - 1
16-10273903-G-C c.366C>G p.Val122Val Synonymous 3/14 - 1
16-10273905-C-T c.364G>A p.Val122Ile Missense 3/14 - 1
16-10273906-G-A c.363C>T p.Phe121Phe Synonymous 3/14 - 1
16-10273925-A-C c.344T>G p.Phe115Cys Missense 3/14 - 1
16-10273933-C-A c.336G>T p.Met112Ile Missense 3/14 - 2
16-10273933-CAT-TGT c.335_336delinsCA p.Met112Thr Missense 3/14 - 1
16-10273933-C-G c.336G>C p.Met112Ile Missense 3/14 - 2
16-10273933-C-T c.336G>A p.Met112Ile Missense 3/14 - 2
16-10273936-CTG-TGT c.331_333delinsACA p.Gln111Thr Missense 3/14 - 1
16-10273946-GC-TG c.322_323delinsCA p.Ala108His Missense 3/14 - 2
16-10273955-T-G c.314A>C p.Asp105Ala Missense 3/14 - 1
16-10273983-G-A c.286C>T p.His96Tyr Missense 3/14 - 1
16-10273994-C-G c.275G>C p.Gly92Ala Missense 3/14 - 1
16-10274005-G-A c.264C>T p.Asp88Asp Synonymous 3/14 - 1
16-10274029-CTT-TGT c.239_240delinsCA p.Lys80Thr Missense 3/14 - 1
16-10274033-G-C c.236C>G p.Pro79Arg Missense 3/14 - 8
16-10274070-C-A c.199G>T p.Val67Leu Missense 3/14 - 1
16-10274070-C-G c.199G>C p.Val67Leu Missense 3/14 - 1
16-10274088-C-CAGGTGCTGC c.182_183insAGCACCTGC p.Ala61_Gly62insAlaProAla InFrameInsertion 3/14 - 1
16-10274097-C-T c.172G>A p.Glu58Lys Missense 3/14 - 1
16-10274099-G-A c.170C>T p.Pro57Leu Missense 3/14 - 1
16-10274103-C-G c.166G>C p.Gly56Arg Missense 3/14 - 1
16-10274115-G-A c.154C>T p.Arg52* Nonsense 3/14 - 1
16-10274119-TTC-TGT c.148_149delinsAC p.Glu50Thr Missense 3/14 - 1
16-10274128-TGT-GAC c.139_141delinsGTC p.Thr47Val Missense 3/14 - 3
16-10274136-C-T c.133G>A p.Asp45Asn Missense 3/14 - 1
16-10274138-TG-GC c.130_131delinsGC p.His44Ala Missense 3/14 - 3
16-10274141-C-G c.128G>C p.Ser43Thr Missense 3/14 - 1
16-10274178-G-T c.91C>A p.Pro31Thr Missense 3/14 - 1
16-10274179-A-AA c.90dup p.Pro31Serfs*107 Frameshift 3/14 - 2
16-10274179-GA-G c.90del p.Ala33Argfs*2 Frameshift 3/14 - 1
16-10274188-CGC-TGT c.79_81delinsACA p.Ala27Thr Missense 3/14 - 1
16-10274193-C-A c.76G>T p.Ala26Ser Missense 3/14 - 1
16-10274193-C-T c.76G>A p.Ala26Thr Missense 3/14 - 1
16-10274213-C-T c.56G>A p.Arg19His Missense 3/14 - 1
16-10274240-AG-GC c.28_29delinsGC p.Leu10Ala Missense 3/14 - 1
16-10274241-G-T c.28C>A p.Leu10Met Missense 3/14 - 1
16-10274245-G-A c.24C>T p.Thr8Thr Synonymous 3/14 - 1
16-10274245-G-C c.24C>G p.Thr8Thr Synonymous 3/14 - 1
16-10274245-G-T c.24C>A p.Thr8Thr Synonymous 3/14 - 1
16-10275698-C-A c.-19+36G>T - intron_variant - 2/13 1
16-10275698-C-G c.-19+36G>C - intron_variant - 2/13 1
16-10275698-C-T c.-19+36G>A - intron_variant - 2/13 1
16-10275727-G-T c.-19+7C>A - splice_region_variant,intron_variant - 2/13 1