VWF von Willebrand factor

Canonical transcript: NM_000552

964 unique variant annotations were identified in 357 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
12-6058191-CA-GC c.8431_8432delinsGC p.Cys2811Ala Missense 52/52 - 1
12-6058212-C-T c.8411G>A p.Cys2804Tyr Missense 52/52 - 1
12-6058213-A-G c.8410T>C p.Cys2804Arg Missense 52/52 - 1
12-6058221-G-T c.8402C>A p.Ala2801Asp Missense 52/52 - 1
12-6058245-A-G c.8378T>C p.Val2793Ala Missense 52/52 - 2
12-6058253-ATT-CAA c.8368_8370delinsTTG p.Asn2790Leu Missense 52/52 - 2
12-6058276-G-A c.8347C>T p.Gln2783* Nonsense 52/52 - 1
12-6058282-G-A c.8341C>T p.Pro2781Ser Missense 52/52 - 1
12-6058296-G-A c.8327C>T p.Pro2776Leu Missense 52/52 - 1
12-6058301-G-C c.8322C>G p.Cys2774Trp Missense 52/52 - 1
12-6058306-A-G c.8317T>C p.Cys2773Arg Missense 52/52 - 4
12-6058305-C-G c.8318G>C p.Cys2773Ser Missense 52/52 - 4
12-6058311-CA-GC c.8311_8312delinsGC p.Cys2771Ala Missense 52/52 - 1
12-6058311-C-T c.8312G>A p.Cys2771Tyr Missense 52/52 - 1
12-6058312-A-T c.8311T>A p.Cys2771Ser Missense 52/52 - 2
12-6058312-A-G c.8311T>C p.Cys2771Arg Missense 52/52 - 3
12-6058311-C-G c.8312G>C p.Cys2771Ser Missense 52/52 - 2
12-6058361-A-C c.8262T>G p.Cys2754Trp Missense 52/52 - 3
12-6058374-A-C c.8254-5T>G - IntronicSNV - 51/51 1
12-6058956-GCAGTAGTGG-G c.8244_8252del p.His2748_Cys2750del InFrameDeletion 51/52 - 1
12-6058958-G-T c.8247C>A p.Tyr2749* Nonsense 51/52 - 1
12-6058989-C-T c.8216G>A p.Cys2739Tyr Missense 51/52 - 3
12-6059041-G-C c.8164C>G p.Pro2722Ala Missense 51/52 - 1
12-6060960-G-A c.8155+50C>T - IntronicSNV - 50/51 2
12-6061004-A-G c.8155+6T>C - IntronicSNV - 50/51 1
12-6061007-C-G c.8155+3G>C - IntronicSNV - 50/51 1
12-6061020-G-T c.8145C>A p.Cys2715* Nonsense 50/52 - 1
12-6061069-T-G c.8116-20A>C - IntronicSNV - 49/51 1
12-6061491-A-G c.8115+66T>C - IntronicSNV - 49/51 1
12-6061559-C-T c.8113G>A p.Gly2705Arg Missense 49/52 - 7
12-6061588-G-C c.8084C>G p.Pro2695Arg Missense 49/52 - 3
12-6061593-G-A c.8079C>T p.Cys2693Cys Synonymous 49/52 - 1
12-6061594-C-T c.8078G>A p.Cys2693Tyr Missense 49/52 - 3
12-6061604-C-A c.8068G>T p.Val2690Phe Missense 49/52 - 1
12-6061631-T-TA c.8040_8041insT p.Arg2681* Nonsense 49/52 - 1
12-6061633-CTC-C c.8043_8044del p.Gly2682Argfs*15 Frameshift 49/52 - 1
12-6061636-T-C c.8036A>G p.Asn2679Ser Missense 49/52 - 1
12-6061645-C-A c.8027G>T p.Cys2676Phe Missense 49/52 - 1
12-6061660-C-T c.8012G>A p.Cys2671Tyr Missense 49/52 - 3
12-6061675-G-A c.7997C>T p.Thr2666Met Missense 49/52 - 1
12-6061685-G-A c.7987C>T p.Arg2663Cys Missense 49/52 - 1
12-6062708-G-A c.7940C>T p.Thr2647Met Missense 48/52 - 4
12-6062742-T-A c.7906A>T p.Asn2636Tyr Missense 48/52 - 1
12-6062878-G-A c.7888-118C>T - IntronicSNV - 47/51 1
12-6062894-A-G c.7888-134T>C - IntronicSNV - 47/51 1
12-6063142-C-T c.7888-382G>A - IntronicSNV - 47/51 1
12-6063905-G-A c.7888-1145C>T - IntronicSNV - 47/51 1
12-6070845-A-G c.7887+5807T>C - IntronicSNV - 47/51 1
12-6071516-T-C c.7887+5136A>G - IntronicSNV - 47/51 1
12-6073520-T-A c.7887+3132A>T - IntronicSNV - 47/51 1
12-6073520-T-G c.7887+3132A>C - IntronicSNV - 47/51 1
12-6074016-A-G c.7887+2636T>C - IntronicSNV - 47/51 1
12-6074472-C-A c.7887+2180G>T - IntronicSNV - 47/51 3
12-6074650-C-T c.7887+2002G>A - IntronicSNV - 47/51 1
12-6076659-C-T c.7880G>A p.Cys2627Tyr Missense 47/52 - 1
12-6076683-C-T c.7856G>A p.Cys2619Tyr Missense 47/52 - 1
12-6077292-C-T c.7770+1G>A - IntronicSNV - 46/51 1
12-6077334-C-A c.7730-1G>T - IntronicSNV - 45/51 1
12-6077337-G-C c.7730-4C>G - IntronicSNV - 45/51 1
12-6077389-G-A c.7730-56C>T - IntronicSNV - 45/51 1
12-6077510-C-A c.7730-177G>T - IntronicSNV - 45/51 1
12-6078125-T-A c.7729+252A>T - IntronicSNV - 45/51 3
12-6078378-CACAGC-C c.7725_7729del p.Cys2576Alafs*59 SpliceDonorDeletion 45/52 - 1
12-6078424-A-T c.7682T>A p.Phe2561Tyr Missense 45/52 - 2
12-6078426-AGCCCGAGGGGCAGAC-A c.7666_7680del p.Val2556_Gly2560del InFrameDeletion 45/52 - 1
12-6078427-C-A c.7679G>T p.Gly2560Val Missense 45/52 - 1
12-6078428-CCCGAGGGGCAGAC-C c.7667_7679del p.Val2556Alafs*4 Frameshift 45/52 - 1
12-6078434-G-A c.7672C>T p.Pro2558Ser Missense 45/52 - 1
12-6078437-A-T c.7669T>A p.Cys2557Ser Missense 45/52 - 1
12-6078436-C-G c.7670G>C p.Cys2557Ser Missense 45/52 - 1
12-6078455-G-A c.7651C>T p.Gln2551* Nonsense 45/52 - 1
12-6078479-G-A c.7627C>T p.Gln2543* Nonsense 45/52 - 1
12-6078491-C-A c.7615G>T p.Glu2539* Nonsense 45/52 - 1
12-6078502-C-T c.7604G>A p.Arg2535Gln Missense 45/52 - 1
12-6078503-G-A c.7603C>T p.Arg2535* Nonsense 45/52 - 10
12-6078529-GTTCTCCGGGG-G c.7572_7581del p.Glu2525Alafs*9 Frameshift 45/52 - 1
12-6078529-GTTCTCCGGGGAG-G c.7567_7578del p.Ser2523_Asn2526del InFrameDeletion 45/52 - 1
12-6078548-G-A c.7558C>T p.Gln2520* Nonsense 45/52 - 1
12-6079058-C-T c.7549-501G>A - IntronicSNV - 44/51 1
12-6080290-G-A c.7548+475C>T - IntronicSNV - 44/51 1
12-6080577-G-C c.7548+188C>G - IntronicSNV - 44/51 1
12-6080786-G-C c.7527C>G p.Asp2509Glu Missense 44/52 - 2
12-6080786-G-T c.7527C>A p.Asp2509Glu Missense 44/52 - 2
12-6080787-T-C c.7526A>G p.Asp2509Gly Missense 44/52 - 1
12-6080792-CCC-C c.7524_7525del p.Asp2509Leufs*23 Frameshift 44/52 - 1
12-6080842-A-G c.7471T>C p.Cys2491Arg Missense 44/52 - 2
12-6080849-G-A c.7464C>T p.Gly2488Gly Synonymous 44/52 - 3
12-6080865-T-TT c.7448dup p.Tyr2483* Nonsense 44/52 - 1
12-6081824-G-A c.7438-949C>T - IntronicSNV - 43/51 1
12-6081938-C-T c.7438-1063G>A - IntronicSNV - 43/51 2
12-6082113-A-G c.7438-1238T>C - IntronicSNV - 43/51 2
12-6082558-A-T c.7438-1683T>A - IntronicSNV - 43/51 2
12-6082799-A-G c.7438-1924T>C - IntronicSNV - 43/51 1
12-6084191-G-T c.7437+1086C>A - IntronicSNV - 43/51 2
12-6084191-G-C c.7437+1086C>G - IntronicSNV - 43/51 2
12-6084323-A-G c.7437+954T>C - IntronicSNV - 43/51 1
12-6085277-C-T c.7437G>A p.Ser2479Ser Synonymous 43/52 - 5
12-6085284-C-T c.7430G>A p.Cys2477Tyr Missense 43/52 - 1
12-6085284-C-G c.7430G>C p.Cys2477Ser Missense 43/52 - 3
12-6085306-G-A c.7408C>T p.Gln2470* Nonsense 43/52 - 2
12-6085315-G-A c.7399C>T p.Gln2467* Nonsense 43/52 - 1
12-6085324-G-A c.7390C>T p.Arg2464Cys Missense 43/52 - 4
12-6085353-G-T c.7361C>A p.Thr2454Asn Missense 43/52 - 1
12-6085362-C-T c.7352G>A p.Cys2451Tyr Missense 43/52 - 1
12-6085370-G-A c.7344C>T p.Cys2448Cys Synonymous 43/52 - 1
12-6085371-C-T c.7343G>A p.Cys2448Tyr Missense 43/52 - 1
12-6085382-C-T c.7332G>A p.Trp2444* Nonsense 43/52 - 1
12-6085388-C-G c.7326G>C p.Gln2442His Missense 43/52 - 1
12-6085388-C-A c.7326G>T p.Gln2442His Missense 43/52 - 1
12-6085393-C-A c.7321G>T p.Gly2441Cys Missense 43/52 - 1
12-6085414-G-A c.7300C>T p.Arg2434* Nonsense 43/52 - 2
12-6085445-G-A c.7288-19C>T - IntronicSNV - 42/51 1
12-6085447-G-A c.7288-21C>T - IntronicSNV - 42/51 1
12-6086265-T-C c.7288-839A>G - IntronicSNV - 42/51 3
12-6089908-ATTCCAGACAAATAAAGATCTGTTCCAGCCCTAACAGGCTCCAAGGAGAGATGACTGCAG-A c.7287+986_7287+1044del - Unclassified - 42/51 1
12-6090303-T-C c.7287+649A>G - IntronicSNV - 42/51 1
12-6090995-G-A c.7244C>T p.Thr2415Ile Missense 42/52 - 1
12-6091019-A-G c.7220T>C p.Leu2407Pro Missense 42/52 - 1
12-6091039-GTT-CAA c.7198_7200delinsTTG p.Asn2400Leu Missense 42/52 - 2
12-6091063-A-C c.7176T>G p.Tyr2392* Nonsense 42/52 - 1
12-6091089-G-A c.7150C>T p.Arg2384Trp Missense 42/52 - 3
12-6091114-G-GG c.7130dup p.His2378Alafs*13 Frameshift 42/52 - 2
12-6091154-C-A c.7085G>T p.Cys2362Phe Missense 42/52 - 6
12-6091159-T-C c.7082-2A>G - IntronicSNV - 41/51 2
12-6092310-C-A c.7081+6G>T - IntronicSNV - 41/51 1
12-6092338-C-G c.7059G>C p.Glu2353Asp Missense 41/52 - 1
12-6092341-G-A c.7056C>T p.Gly2352Gly Synonymous 41/52 - 3
12-6092390-G-A c.7007C>T p.Pro2336Leu Missense 41/52 - 1
12-6092408-A-C c.6989T>G p.Val2330Gly Missense 41/52 - 1
12-6092416-A-C c.6981T>G p.Cys2327Trp Missense 41/52 - 1
12-6092417-C-T c.6980G>A p.Cys2327Tyr Missense 41/52 - 1
12-6093128-G-A c.6977-708C>T - IntronicSNV - 40/51 1
12-6093135-T-TGGATGGATAGATAGAT c.6977-713_6977-712insTATCTATCCATCCATC - IntronicInsertion - 40/51 1
12-6093136-A-G c.6977-716T>C - IntronicSNV - 40/51 4
12-6093140-G-A c.6977-720C>T - IntronicSNV - 40/51 1
12-6093199-C-T c.6977-779G>A - IntronicSNV - 40/51 1
12-6093282-A-T c.6977-862T>A - IntronicSNV - 40/51 1
12-6093287-C-T c.6977-867G>A - IntronicSNV - 40/51 1
12-6093300-T-C c.6977-880A>G - IntronicSNV - 40/51 1
12-6093952-T-C c.6976+259A>G - IntronicSNV - 40/51 1
12-6094247-G-A c.6940C>T p.Gln2314* Nonsense 40/52 - 1
12-6094249-C-T c.6938G>A p.Arg2313His Missense 40/52 - 2
12-6094250-G-A c.6937C>T p.Arg2313Cys Missense 40/52 - 1
12-6094276-C-T c.6911G>A p.Cys2304Tyr Missense 40/52 - 2
12-6094279-CGTGGGAGC-C c.6902_6909del p.Ala2301Valfs*5 SpliceAcceptorDeletion 40/52 39/51 1
12-6094290-A-T c.6902-5T>A - IntronicSNV - 39/51 1
12-6094737-G-A c.6893C>T p.Thr2298Met Missense 39/52 - 1
12-6094738-T-C c.6892A>G p.Thr2298Ala Missense 39/52 - 1
12-6094771-G-C c.6859C>G p.Arg2287Gly Missense 39/52 - 2
12-6094771-G-A c.6859C>T p.Arg2287Trp Missense 39/52 - 9
12-6094774-CCGCT-C c.6853_6856del p.Ser2285Glyfs*24 Frameshift 39/52 - 1
12-6094783-A-G c.6847T>C p.Cys2283Arg Missense 39/52 - 2
12-6094845-G-A c.6799-14C>T - IntronicSNV - 38/51 1
12-6094845-G-C c.6799-14C>G - IntronicSNV - 38/51 1
12-6095274-T-C c.6799-443A>G - IntronicSNV - 38/51 4
12-6096676-G-A c.6799-1845C>T - IntronicSNV - 38/51 1
12-6096691-G-A c.6799-1860C>T - IntronicSNV - 38/51 1
12-6096712-A-G c.6799-1881T>C - IntronicSNV - 38/51 1
12-6096816-C-T c.6799-1985G>A - IntronicSNV - 38/51 1
12-6097657-C-A c.6799-2826G>T - IntronicSNV - 38/51 1
12-6097657-C-T c.6799-2826G>A - IntronicSNV - 38/51 1
12-6099453-T-C c.6798+1532A>G - IntronicSNV - 38/51 1
12-6099849-C-A c.6798+1136G>T - IntronicSNV - 38/51 1
12-6099849-C-G c.6798+1136G>C - IntronicSNV - 38/51 1
12-6100485-A-G c.6798+500T>C - IntronicSNV - 38/51 1
12-6100796-C-T c.6798+189G>A - IntronicSNV - 38/51 1
12-6100993-G-A c.6790C>T p.Gln2264* Nonsense 38/52 - 1
12-6101014-A-T c.6769T>A p.Cys2257Ser Missense 38/52 - 1
12-6101013-C-G c.6770G>C p.Cys2257Ser Missense 38/52 - 1
12-6101074-A-G c.6709T>C p.Cys2237Arg Missense 38/52 - 1
12-6101151-TG-GC c.6631_6632delinsGC p.His2211Ala Missense 38/52 - 1
12-6101204-T-A c.6599-20A>T - IntronicSNV - 37/51 3
12-6102902-C-T c.6598+126G>A - IntronicSNV - 37/51 1
12-6102907-G-A c.6598+121C>T - IntronicSNV - 37/51 1
12-6103047-C-G c.6579G>C p.Trp2193Cys Missense 37/52 - 1
12-6103049-A-T c.6577T>A p.Trp2193Arg Missense 37/52 - 1
12-6103049-A-G c.6577T>C p.Trp2193Arg Missense 37/52 - 1
12-6103057-C-T c.6569G>A p.Cys2190Tyr Missense 37/52 - 1
12-6103072-C-T c.6554G>A p.Arg2185Gln Missense 37/52 - 7
12-6103073-G-A c.6553C>T p.Arg2185Trp Missense 37/52 - 1
12-6103090-G-A c.6536C>T p.Ser2179Phe Missense 37/52 - 7
12-6103094-C-A c.6532G>T p.Ala2178Ser Missense 37/52 - 2
12-6103176-G-T c.6450C>A p.Cys2150* Nonsense 37/52 - 1
12-6103202-G-A c.6424C>T p.Leu2142Phe Missense 37/52 - 1
12-6103208-G-A c.6418C>T p.Gln2140* Nonsense 37/52 - 1
12-6103210-C-T c.6416G>A p.Cys2139Tyr Missense 37/52 - 1
12-6103273-C-T c.6353G>A p.Arg2118Gln Missense 37/52 - 1
12-6103583-C-T c.6254G>A p.Cys2085Tyr Missense 36/52 - 1
12-6103587-G-C c.6250C>G p.Leu2084Val Missense 36/52 - 1
12-6103650-G-A c.6187C>T p.Pro2063Ser Missense 36/52 - 15
12-6103656-AA-A c.6182del p.Phe2061Serfs*38 Frameshift 36/52 - 1
12-6103699-G-C c.6138C>G p.Ile2046Met Missense 36/52 - 1
12-6103738-G-A c.6099C>T p.Tyr2033Tyr Synonymous 36/52 - 1
12-6103844-G-A c.6064-71C>T - IntronicSNV - 35/51 1
12-6104868-G-A c.6063+300C>T - IntronicSNV - 35/51 1
12-6105356-C-T c.5875G>A p.Val1959Met Missense 35/52 - 1
12-6105380-T-C c.5851A>G p.Thr1951Ala Missense 35/52 - 2
12-6105387-G-A c.5844C>T p.Cys1948Cys Synonymous 35/52 - 6
12-6105396-G-C c.5843-8C>G - IntronicSNV - 34/51 1
12-6105499-T-A c.5843-111A>T - IntronicSNV - 34/51 2
12-6105499-T-C c.5843-111A>G - IntronicSNV - 34/51 2
12-6106018-T-C c.5843-630A>G - IntronicSNV - 34/51 2
12-6106255-C-T c.5843-867G>A - IntronicSNV - 34/51 1
12-6106255-C-A c.5843-867G>T - IntronicSNV - 34/51 1
12-6111476-A-T c.5843-6088T>A - IntronicSNV - 34/51 2
12-6111476-A-G c.5843-6088T>C - IntronicSNV - 34/51 2
12-6116457-A-G c.5842+4326T>C - IntronicSNV - 34/51 1
12-6118344-AACCGTACATTTGATAAAGGGTTAATATCCAAAATATATTAGGAACTCATACAACTCAAT-A c.5842+2381_5842+2439del - Unclassified - 34/51 1
12-6119469-TTGCAAAAAAAATAAATAAAAACTGTAACAACACACTCAGCAAGGCCGTGGAGATGCATG-T c.5842+1256_5842+1314del - Unclassified - 34/51 1
12-6119786-ACATCCATAGAAGAACAGTTGGGTAACCTATGGTACACAGTGAAGTATTAGGAAGCTCTC-A c.5842+939_5842+997del - Unclassified - 34/51 1
12-6120778-C-T c.5842+5G>A - IntronicSNV - 34/51 1
12-6120782-C-G c.5842+1G>C - IntronicSNV - 34/51 3
12-6120783-CAGGGGCAGGTCCAGCGGCAGCCACAGGTCTCTTCCACTTTAACAGGGGACTGGCTGTTA-C c.5784_5842del p.Asn1929Argfs*14 Unclassified 34/52 - 2
12-6120788-C-A c.5837G>T p.Cys1946Phe Missense 34/52 - 1
12-6120824-A-C c.5801T>G p.Val1934Gly Missense 34/52 - 1
12-6120827-G-A c.5798C>T p.Pro1933Leu Missense 34/52 - 1
12-6120832-C-G c.5793G>C p.Gln1931His Missense 34/52 - 1
12-6120834-G-A c.5791C>T p.Gln1931* Nonsense 34/52 - 1
12-6120846-A-G c.5779T>C p.Cys1927Arg Missense 34/52 - 1
12-6120878-C-T c.5747G>A p.Arg1916Gln Missense 34/52 - 1
12-6121078-C-T c.5665-118G>A - IntronicSNV - 33/51 1
12-6121251-A-G c.5664+2T>C - IntronicSNV - 33/51 1
12-6121256-C-A c.5661G>T p.Lys1887Asn Missense 33/52 - 1
12-6121281-C-A c.5636G>T p.Cys1879Phe Missense 33/52 - 1
12-6122648-CAGAGCACAGTTTGTGGAGGAAGGAATTGCCCAAGGTGACCATGGTAGGGAGGTCTTCGA-C c.5561_5619del p.Ile1854Argfs*4 Unclassified 32/52 - 1
12-6122710-G-A c.5557C>T p.Arg1853* Nonsense 32/52 - 3
12-6122758-G-A c.5509C>T p.Arg1837Trp Missense 32/52 - 1
12-6122775-T-C c.5492A>G p.Tyr1831Cys Missense 32/52 - 1
12-6122796-G-T c.5471C>A p.Pro1824His Missense 32/52 - 4
12-6122802-A-C c.5465T>G p.Val1822Gly Missense 32/52 - 4
12-6125253-A-G c.5455+2T>C - IntronicSNV - 31/51 1
12-6125254-C-T c.5455+1G>A - IntronicSNV - 31/51 1
12-6125257-T-C c.5453A>G p.Asn1818Ser Missense 31/52 - 1
12-6125326-G-A c.5384C>T p.Ala1795Val Missense 31/52 - 2
12-6125353-TG-GC c.5356_5357delinsGC p.His1786Ala Missense 31/52 - 2
12-6125354-G-C c.5356C>G p.His1786Asp Missense 31/52 - 11
12-6125363-A-C c.5347T>G p.Ser1783Ala Missense 31/52 - 11
12-6125374-C-A c.5336G>T p.Arg1779Leu Missense 31/52 - 1
12-6125375-G-A c.5335C>T p.Arg1779* Nonsense 31/52 - 1
12-6125708-T-C c.5285A>G p.Gln1762Arg Missense 30/52 - 1
12-6125711-A-T c.5282T>A p.Met1761Lys Missense 30/52 - 1
12-6125715-C-T c.5278G>A p.Val1760Ile Missense 30/52 - 3
12-6125723-AG-GC c.5269_5270delinsGC p.Leu1757Ala Missense 30/52 - 1
12-6125758-C-A c.5235G>T p.Trp1745Cys Missense 30/52 - 11
12-6125758-C-G c.5235G>C p.Trp1745Cys Missense 30/52 - 11
12-6125768-T-G c.5225A>C p.Asp1742Ala Missense 30/52 - 1
12-6125771-A-G c.5222T>C p.Ile1741Thr Missense 30/52 - 1
12-6125791-C-A c.5202G>T p.Gln1734His Missense 30/52 - 1
12-6125791-C-G c.5202G>C p.Gln1734His Missense 30/52 - 1
12-6125793-G-A c.5200C>T p.Gln1734* Nonsense 30/52 - 2
12-6125795-A-G c.5198T>C p.Leu1733Pro Missense 30/52 - 2
12-6125802-A-T c.5191T>A p.Ser1731Thr Missense 30/52 - 12
12-6125820-G-A c.5173C>T p.Pro1725Ser Missense 30/52 - 3
12-6125968-C-T c.5122G>A p.Asp1708Asn Missense 29/52 - 1
12-6126002-CCAG-C c.5086_5088del p.Leu1696del InFrameDeletion 29/52 - 1
12-6126003-A-C c.5087T>G p.Leu1696Arg Missense 29/52 - 3
12-6127530-C-A c.5053+1G>T - IntronicSNV - 28/51 1
12-6127549-T-C c.5035A>G p.Thr1679Ala Missense 28/52 - 1
12-6127565-C-G c.5019G>C p.Glu1673Asp Missense 28/52 - 1
12-6127570-C-T c.5014G>A p.Gly1672Arg Missense 28/52 - 4
12-6127576-A-T c.5008T>A p.Cys1670Ser Missense 28/52 - 1
12-6127576-A-C c.5008T>G p.Cys1670Gly Missense 28/52 - 1
12-6127575-C-G c.5009G>C p.Cys1670Ser Missense 28/52 - 1
12-6127578-CA-GC c.5005_5006delinsGC p.Cys1669Ala Missense 28/52 - 2
12-6127579-A-C c.5005T>G p.Cys1669Gly Missense 28/52 - 3
12-6127580-CCT-GAC c.5002_5004delinsGTC p.Arg1668Val Missense 28/52 - 1
12-6127581-CT-GC c.5002_5003delinsGC p.Arg1668Ala Missense 28/52 - 2
12-6127583-C-G c.5001G>C p.Gln1667His Missense 28/52 - 1
12-6127587-A-T c.4997T>A p.Leu1666Gln Missense 28/52 - 1
12-6127590-A-T c.4994T>A p.Val1665Glu Missense 28/52 - 1
12-6127593-AG-AC c.4990delinsG p.Leu1664Val Missense 28/52 - 1
12-6127596-T-G c.4988A>C p.Asp1663Ala Missense 28/52 - 2
12-6127602-G-C c.4982C>G p.Ala1661Gly Missense 28/52 - 1
12-6127605-T-G c.4979A>C p.Glu1660Ala Missense 28/52 - 2
12-6127608-CG-GC c.4975_4976delinsGC p.Arg1659Ala Missense 28/52 - 2
12-6127609-G-A c.4975C>T p.Arg1659* Nonsense 28/52 - 6
12-6127614-A-T c.4970T>A p.Leu1657His Missense 28/52 - 1
12-6127615-G-T c.4969C>A p.Leu1657Ile Missense 28/52 - 2
12-6127620-T-G c.4964A>C p.Glu1655Ala Missense 28/52 - 2
12-6127626-T-A c.4958A>T p.Asp1653Val Missense 28/52 - 1
12-6127626-T-G c.4958A>C p.Asp1653Ala Missense 28/52 - 2
12-6127632-A-C c.4952T>G p.Ile1651Ser Missense 28/52 - 1
12-6127632-AT-GC c.4951_4952delinsGC p.Ile1651Ala Missense 28/52 - 1
12-6127634-GA-AA c.4950delinsT p.Leu1650Leu Missense 28/52 - 2
12-6127638-A-C c.4946T>G p.Ile1649Ser Missense 28/52 - 1
12-6127640-TA-T c.4944del p.Ile1649Serfs*44 Frameshift 28/52 - 1
12-6127642-G-A c.4942C>T p.Pro1648Ser Missense 28/52 - 1
12-6127645-C-A c.4939G>T p.Ala1647Ser Missense 28/52 - 2
12-6127647-T-C c.4937A>G p.Asn1646Ser Missense 28/52 - 2
12-6127658-AAT-CAA c.4924_4926delinsTTG p.Ile1642Leu Missense 28/52 - 2
12-6127659-A-C c.4925T>G p.Ile1642Ser Missense 28/52 - 1
12-6127668-A-G c.4916T>C p.Leu1639Pro Missense 28/52 - 1
12-6127672-C-T c.4912G>A p.Glu1638Lys Missense 28/52 - 6
12-6127692-C-T c.4892G>A p.Gly1631Asp Missense 28/52 - 4
12-6127698-C-T c.4886G>A p.Gly1629Glu Missense 28/52 - 4
12-6127699-C-G c.4885G>C p.Gly1629Arg Missense 28/52 - 2
12-6127699-C-T c.4885G>A p.Gly1629Arg Missense 28/52 - 2
12-6127700-AA-AG c.4883delinsC p.Ile1628Thr Missense 28/52 - 1
12-6127701-A-G c.4883T>C p.Ile1628Thr Missense 28/52 - 7
12-6127718-G-A c.4866C>T p.Asp1622Asp Synonymous 28/52 - 1
12-6127719-TC-AC c.4865delinsT p.Asp1622Val Missense 28/52 - 1
12-6127734-T-C c.4850A>G p.Lys1617Arg Missense 28/52 - 2
12-6127735-T-C c.4849A>G p.Lys1617Glu Missense 28/52 - 1
12-6127743-T-C c.4841A>G p.Asp1614Gly Missense 28/52 - 3
12-6127743-T-G c.4841A>C p.Asp1614Ala Missense 28/52 - 2
12-6127744-C-T c.4840G>A p.Asp1614Asn Missense 28/52 - 1
12-6127747-A-C c.4837T>G p.Ser1613Ala Missense 28/52 - 1
12-6127755-TT-TG c.4828delinsC p.Asn1610His Missense 28/52 - 2
12-6127759-C-T c.4825G>A p.Gly1609Arg Missense 28/52 - 7
12-6127763-G-A c.4821C>T p.Val1607Val Synonymous 28/52 - 1
12-6127763-G-C c.4821C>G p.Val1607Val Synonymous 28/52 - 1
12-6127763-G-T c.4821C>A p.Val1607Val Synonymous 28/52 - 1
12-6127764-A-T c.4820T>A p.Val1607Asp Missense 28/52 - 5
12-6127767-AT-GC c.4816_4817delinsGC p.Met1606Ala Missense 28/52 - 4
12-6127768-T-A c.4816A>T p.Met1606Leu Missense 28/52 - 2
12-6127768-T-G c.4816A>C p.Met1606Leu Missense 28/52 - 2
12-6127769-GTA-AAG c.4813_4815delinsCTT p.Tyr1605Leu Missense 28/52 - 1
12-6127769-GT-GG c.4814delinsC p.Tyr1605Ser Missense 28/52 - 1
12-6127770-T-A c.4814A>T p.Tyr1605Phe Missense 28/52 - 1
12-6127770-TA-GC c.4813_4814delinsGC p.Tyr1605Ala Missense 28/52 - 4
12-6127770-T-G c.4814A>C p.Tyr1605Ser Missense 28/52 - 2
12-6127773-A-G c.4811T>C p.Val1604Ala Missense 28/52 - 1
12-6127773-AC-AG c.4810delinsC p.Val1604Leu Missense 28/52 - 2
12-6127774-C-A c.4810G>T p.Val1604Phe Missense 28/52 - 3
12-6127775-CAG-AAC c.4807_4809delinsGTT p.Leu1603Val Missense 28/52 - 2
12-6127776-AG-AA c.4807delinsT p.Leu1603Leu Missense 28/52 - 1
12-6127776-AG-GC c.4807_4808delinsGC p.Leu1603Ala Missense 28/52 - 2
12-6127776-AG-TC c.4807_4808delinsGA p.Leu1603Glu Missense 28/52 - 1
12-6127777-G-T c.4807C>A p.Leu1603Met Missense 28/52 - 2
12-6127779-TT-GC c.4804_4805delinsGC p.Asn1602Ala Missense 28/52 - 6
12-6127783-G-C c.4801C>G p.Pro1601Ala Missense 28/52 - 1
12-6127794-C-T c.4790G>A p.Arg1597Gln Missense 28/52 - 4
12-6127795-G-A c.4789C>T p.Arg1597Trp Missense 28/52 - 27
12-6127797-T-G c.4787A>C p.Asp1596Ala Missense 28/52 - 3
12-6127823-GTC-AAG c.4759_4761delinsCTT p.Asp1587Leu Missense 28/52 - 1
12-6127833-T-C c.4751A>G p.Tyr1584Cys Missense 28/52 - 23
12-6127837-G-A c.4747C>T p.Arg1583Trp Missense 28/52 - 2
12-6127845-A-G c.4739T>C p.Leu1580Pro Missense 28/52 - 1
12-6127849-C-G c.4735G>C p.Gly1579Arg Missense 28/52 - 2
12-6127849-C-T c.4735G>A p.Gly1579Arg Missense 28/52 - 2
12-6127860-CT-GT c.4724delinsC p.Arg1575Thr Missense 28/52 - 1
12-6127862-GTT-CAA c.4720_4722delinsTTG p.Asn1574Leu Missense 28/52 - 2
12-6127881-A-T c.4703T>A p.Ile1568Asn Missense 28/52 - 2
12-6127884-T-G c.4700A>C p.Glu1567Ala Missense 28/52 - 1
12-6127888-G-A c.4696C>T p.Arg1566* Nonsense 28/52 - 2
12-6127890-A-G c.4694T>C p.Val1565Ala Missense 28/52 - 1
12-6127891-C-A c.4693G>T p.Val1565Leu Missense 28/52 - 2
12-6127899-A-G c.4685T>C p.Leu1562Pro Missense 28/52 - 3
12-6127917-T-C c.4667A>G p.Gln1556Arg Missense 28/52 - 1
12-6127941-AC-TC c.4643delinsA p.Val1548Glu Missense 28/52 - 1
12-6127943-A-T c.4641T>A p.Thr1547Thr Synonymous 28/52 - 1
12-6127943-A-G c.4641T>C p.Thr1547Thr Synonymous 28/52 - 2
12-6127953-TA-CG c.4630_4631delinsCG p.Tyr1544Arg Missense 28/52 - 1
12-6127953-TA-GC c.4630_4631delinsGC p.Tyr1544Ala Missense 28/52 - 1
12-6127954-A-C c.4630T>G p.Tyr1544Asp Missense 28/52 - 1
12-6127956-G-A c.4628C>T p.Ser1543Phe Missense 28/52 - 1
12-6127958-AGTACTG-A c.4621_4626del p.Gln1541_Tyr1542del InFrameDeletion 28/52 - 1
12-6127960-TAC-T c.4623_4624del p.Tyr1542Leufs*45 Frameshift 28/52 - 1
12-6127965-A-G c.4619T>C p.Leu1540Pro Missense 28/52 - 3
12-6128002-T-C c.4582A>G p.Met1528Val Missense 28/52 - 5
12-6128004-C-T c.4580G>A p.Arg1527Gln Missense 28/52 - 1
12-6128006-C-A c.4578G>T p.Gln1526His Missense 28/52 - 1
12-6128025-AA-GC c.4558_4559delinsGC p.Phe1520Ala Missense 28/52 - 1
12-6128029-TCCT-T c.4555_4557del p.Glu1519del InFrameDeletion 28/52 - 1
12-6128034-CT-GC c.4549_4550delinsGC p.Ser1517Ala Missense 28/52 - 1
12-6128039-GTT-CAA c.4543_4545delinsTTG p.Asn1515Leu Missense 28/52 - 1
12-6128041-T-C c.4543A>G p.Asn1515Asp Missense 28/52 - 1
12-6128043-A-C c.4541T>G p.Phe1514Cys Missense 28/52 - 1
12-6128059-T-C c.4525A>G p.Ile1509Val Missense 28/52 - 1
12-6128067-G-A c.4517C>T p.Ser1506Leu Missense 28/52 - 13
12-6128070-C-T c.4514G>A p.Gly1505Glu Missense 28/52 - 3
12-6128071-C-T c.4513G>A p.Gly1505Arg Missense 28/52 - 4
12-6128071-C-G c.4513G>C p.Gly1505Arg Missense 28/52 - 4
12-6128076-A-T c.4508T>A p.Leu1503Gln Missense 28/52 - 1
12-6128076-A-G c.4508T>C p.Leu1503Pro Missense 28/52 - 1
12-6128076-A-C c.4508T>G p.Leu1503Arg Missense 28/52 - 2
12-6128082-A-G c.4502T>C p.Phe1501Ser Missense 28/52 - 1
12-6128085-G-A c.4499C>T p.Ala1500Val Missense 28/52 - 1
12-6128088-A-T c.4496T>A p.Val1499Glu Missense 28/52 - 1
12-6128090-ATC-ATG c.4492delinsC p.Asp1498His Missense 28/52 - 1
12-6128091-T-G c.4493A>C p.Asp1498Ala Missense 28/52 - 3
12-6128106-TT-TG c.4477delinsC p.Asn1493His Missense 28/52 - 4
12-6128125-T-C c.4459A>G p.Thr1487Ala Missense 28/52 - 1
12-6128126-CGA-AAC c.4456_4458delinsGTT p.Ser1486Val Missense 28/52 - 1
12-6128127-G-A c.4457C>T p.Ser1486Leu Missense 28/52 - 5
12-6128128-A-C c.4456T>G p.Ser1486Ala Missense 28/52 - 1
12-6128131-C-G c.4453G>C p.Val1485Leu Missense 28/52 - 1
12-6128141-C-A c.4443G>T p.Gly1481Gly Synonymous 28/52 - 1
12-6128155-T-C c.4429A>G p.Thr1477Ala Missense 28/52 - 1
12-6128162-T-C c.4422A>G p.Ala1474Ala Synonymous 28/52 - 1
12-6128170-TC-T c.4414del p.Asp1472Thrfs*53 Frameshift 28/52 - 1
12-6128170-C-G c.4414G>C p.Asp1472His Missense 28/52 - 26
12-6128176-G-GG c.4413dup p.Asp1472Argfs*40 Frameshift 28/52 - 1
12-6128181-G-A c.4403C>T p.Thr1468Ile Missense 28/52 - 1
12-6128182-T-C c.4402A>G p.Thr1468Ala Missense 28/52 - 1
12-6128185-G-A c.4399C>T p.Pro1467Ser Missense 28/52 - 5
12-6128190-G-A c.4394C>T p.Pro1465Leu Missense 28/52 - 1
12-6128202-G-T c.4382C>A p.Ala1461Asp Missense 28/52 - 2
12-6128206-G-A c.4378C>T p.Leu1460Phe Missense 28/52 - 1
12-6128206-G-C c.4378C>G p.Leu1460Val Missense 28/52 - 1
12-6128211-C-T c.4373G>A p.Cys1458Tyr Missense 28/52 - 3
12-6128212-A-G c.4372T>C p.Cys1458Arg Missense 28/52 - 1
12-6128212-A-C c.4372T>G p.Cys1458Gly Missense 28/52 - 1
12-6128216-G-C c.4368C>G p.Tyr1456* Nonsense 28/52 - 1
12-6128226-A-T c.4358T>A p.Ile1453Asn Missense 28/52 - 1
12-6128232-T-C c.4352A>G p.Asp1451Gly Missense 28/52 - 1
12-6128235-CT-GA c.4348_4349delinsTC p.Arg1450Ser Missense 28/52 - 9
12-6128247-A-G c.4337T>C p.Leu1446Pro Missense 28/52 - 2
12-6128269-C-T c.4315G>A p.Val1439Met Missense 28/52 - 3
12-6128275-C-T c.4309G>A p.Ala1437Thr Missense 28/52 - 3
12-6128280-T-C c.4304A>G p.Asn1435Ser Missense 28/52 - 2
12-6128295-TT-GC c.4288_4289delinsGC p.Lys1430Ala Missense 28/52 - 1
12-6128299-C-T c.4285G>A p.Glu1429Lys Missense 28/52 - 1
12-6128308-G-A c.4276C>T p.Arg1426Cys Missense 28/52 - 2
12-6128311-T-A c.4273A>T p.Ile1425Phe Missense 28/52 - 7
12-6128316-TT-GC c.4267_4268delinsGC p.Lys1423Ala Missense 28/52 - 1
12-6128321-G-C c.4263C>G p.Asn1421Lys Missense 28/52 - 1
12-6128321-G-T c.4263C>A p.Asn1421Lys Missense 28/52 - 1
12-6128328-TG-GC c.4255_4256delinsGC p.His1419Ala Missense 28/52 - 1
12-6128337-A-T c.4247T>A p.Ile1416Asn Missense 28/52 - 1
12-6128337-A-G c.4247T>C p.Ile1416Thr Missense 28/52 - 1
12-6128340-C-T c.4244G>A p.Gly1415Asp Missense 28/52 - 2
12-6128343-A-C c.4241T>G p.Val1414Gly Missense 28/52 - 1
12-6128346-G-A c.4238C>T p.Pro1413Leu Missense 28/52 - 2
12-6128359-C-A c.4225G>T p.Val1409Phe Missense 28/52 - 2
12-6128361-TT-GC c.4222_4223delinsGC p.Lys1408Ala Missense 28/52 - 1
12-6128367-T-C c.4217A>G p.Lys1406Arg Missense 28/52 - 1
12-6128378-CCTGGACGTAGCGGACAAAGTTCCGGGACATCCG-C c.4174_4206del p.Arg1392_Gln1402del InFrameDeletion 28/52 - 1
12-6128379-T-G c.4205A>C p.Gln1402Pro Missense 28/52 - 5
12-6128387-GCG-GAG c.4196delinsT p.Arg1399Leu Missense 28/52 - 1
12-6128388-C-T c.4196G>A p.Arg1399His Missense 28/52 - 14
12-6128388-CG-GC c.4195_4196delinsGC p.Arg1399Ala Missense 28/52 - 3
12-6128392-C-T c.4192G>A p.Val1398Ile Missense 28/52 - 1
12-6128400-CG-GC c.4183_4184delinsGC p.Arg1395Ala Missense 28/52 - 3
12-6128401-G-A c.4183C>T p.Arg1395Trp Missense 28/52 - 2
12-6128403-G-A c.4181C>T p.Ser1394Phe Missense 28/52 - 1
12-6128409-CG-GA c.4174_4175delinsTC p.Arg1392Ser Missense 28/52 - 1
12-6128409-CG-GC c.4174_4175delinsGC p.Arg1392Ala Missense 28/52 - 3
12-6128419-C-T c.4165G>A p.Glu1389Lys Missense 28/52 - 1
12-6128419-C-G c.4165G>C p.Glu1389Gln Missense 28/52 - 1
12-6128424-C-A c.4160G>T p.Ser1387Ile Missense 28/52 - 4
12-6128438-C-A c.4146G>T p.Leu1382Leu Synonymous 28/52 - 1
12-6128439-A-G c.4145T>C p.Leu1382Pro Missense 28/52 - 2
12-6128443-T-A c.4141A>T p.Thr1381Ser Missense 28/52 - 1
12-6128443-T-C c.4141A>G p.Thr1381Ala Missense 28/52 - 3
12-6128446-T-C c.4138A>G p.Ile1380Val Missense 28/52 - 5
12-6128449-G-A c.4135C>T p.Arg1379Cys Missense 28/52 - 7
12-6128451-G-A c.4133C>T p.Ser1378Phe Missense 28/52 - 1
12-6128452-A-G c.4132T>C p.Ser1378Pro Missense 28/52 - 1
12-6128454-G-A c.4130C>T p.Ala1377Val Missense 28/52 - 3
12-6128463-C-T c.4121G>A p.Arg1374His Missense 28/52 - 10
12-6128463-C-A c.4121G>T p.Arg1374Leu Missense 28/52 - 2
12-6128463-CG-GC c.4120_4121delinsGC p.Arg1374Ala Missense 28/52 - 1
12-6128464-G-A c.4120C>T p.Arg1374Cys Missense 28/52 - 18
12-6128469-A-C c.4115T>G p.Ile1372Ser Missense 28/52 - 3
12-6128471-CTT-GAC c.4111_4113delinsGTC p.Lys1371Val Missense 28/52 - 1
12-6128479-A-T c.4105T>A p.Phe1369Ile Missense 28/52 - 7
12-6128490-A-G c.4094T>C p.Leu1365Pro Missense 28/52 - 1
12-6128499-TT-GC c.4084_4085delinsGC p.Lys1362Ala Missense 28/52 - 1
12-6128499-T-G c.4085A>C p.Lys1362Thr Missense 28/52 - 1
12-6128504-G-A c.4080C>T p.Val1360Val Synonymous 28/52 - 1
12-6128505-A-G c.4079T>C p.Val1360Ala Missense 28/52 - 3
12-6128506-C-T c.4078G>A p.Val1360Ile Missense 28/52 - 1
12-6128509-C-T c.4075G>A p.Glu1359Lys Missense 28/52 - 3
12-6128511-C-T c.4073G>A p.Ser1358Asn Missense 28/52 - 2
12-6128538-T-C c.4046A>G p.Tyr1349Cys Missense 28/52 - 3
12-6128541-TT-GC c.4042_4043delinsGC p.Lys1348Ala Missense 28/52 - 1
12-6128557-T-C c.4027A>G p.Ile1343Val Missense 28/52 - 3
12-6128560-G-A c.4024C>T p.Arg1342Cys Missense 28/52 - 2
12-6128561-CCG-GAC c.4021_4023delinsGTC p.Arg1341Val Missense 28/52 - 1
12-6128562-C-T c.4022G>A p.Arg1341Gln Missense 28/52 - 11
12-6128563-G-A c.4021C>T p.Arg1341Trp Missense 28/52 - 3
12-6128571-G-C c.4013C>G p.Ser1338* Nonsense 28/52 - 1
12-6128571-G-T c.4013C>A p.Ser1338* Nonsense 28/52 - 1
12-6128574-G-A c.4010C>T p.Pro1337Leu Missense 28/52 - 6
12-6128576-TCG-GAC c.4006_4008delinsGTC p.Arg1336Val Missense 28/52 - 1
12-6128578-G-A c.4006C>T p.Arg1336* Nonsense 28/52 - 1
12-6128582-CCG-GAC c.4000_4002delinsGTC p.Arg1334Val Missense 28/52 - 1
12-6128583-C-T c.4001G>A p.Arg1334Gln Missense 28/52 - 1
12-6128589-T-C c.3995A>G p.Lys1332Arg Missense 28/52 - 1
12-6128589-TT-GC c.3994_3995delinsGC p.Lys1332Ala Missense 28/52 - 2
12-6128613-C-G c.3971G>C p.Gly1324Ala Missense 28/52 - 3
12-6128614-C-T c.3970G>A p.Gly1324Ser Missense 28/52 - 10
12-6128623-A-C c.3961T>G p.Tyr1321Asp Missense 28/52 - 1
12-6128633-G-A c.3951C>T p.Ala1317Ala Synonymous 28/52 - 1
12-6128638-C-T c.3946G>A p.Val1316Met Missense 28/52 - 30
12-6128640-CG-GC c.3943_3944delinsGC p.Arg1315Ala Missense 28/52 - 1
12-6128641-G-A c.3943C>T p.Arg1315Cys Missense 28/52 - 13
12-6128643-A-G c.3941T>C p.Val1314Ala Missense 28/52 - 1
12-6128643-A-T c.3941T>A p.Val1314Asp Missense 28/52 - 2
12-6128644-C-A c.3940G>T p.Val1314Phe Missense 28/52 - 1
12-6128645-C-T c.3939G>A p.Trp1313* Nonsense 28/52 - 3
12-6128645-C-G c.3939G>C p.Trp1313Cys Missense 28/52 - 2
12-6128645-C-A c.3939G>T p.Trp1313Cys Missense 28/52 - 2
12-6128646-CA-CC c.3937delinsG p.Trp1313Gly Missense 28/52 - 1
12-6128648-CTT-GAC c.3934_3936delinsGTC p.Lys1312Val Missense 28/52 - 1
12-6128648-C-T c.3936G>A p.Lys1312Lys Synonymous 28/52 - 1
12-6128653-G-A c.3931C>T p.Gln1311* Nonsense 28/52 - 5
12-6128655-G-A c.3929C>T p.Ser1310Phe Missense 28/52 - 4
12-6128658-A-G c.3926T>C p.Ile1309Thr Missense 28/52 - 1
12-6128659-T-C c.3925A>G p.Ile1309Val Missense 28/52 - 13
12-6128659-T-A c.3925A>T p.Ile1309Phe Missense 28/52 - 1
12-6128661-C-G c.3923G>C p.Arg1308Pro Missense 28/52 - 4
12-6128661-C-T c.3923G>A p.Arg1308His Missense 28/52 - 1
12-6128661-CG-GC c.3922_3923delinsGC p.Arg1308Ala Missense 28/52 - 1
12-6128661-C-A c.3923G>T p.Arg1308Leu Missense 28/52 - 4
12-6128661-CG-GA c.3922_3923delinsTC p.Arg1308Ser Missense 28/52 - 1
12-6128662-G-A c.3922C>T p.Arg1308Cys Missense 28/52 - 15
12-6128664-A-G c.3920T>C p.Leu1307Pro Missense 28/52 - 1
12-6128667-C-A c.3917G>T p.Arg1306Leu Missense 28/52 - 1
12-6128667-C-T c.3917G>A p.Arg1306Gln Missense 28/52 - 13
12-6128668-G-A c.3916C>T p.Arg1306Trp Missense 28/52 - 18
12-6128673-A-C c.3911T>G p.Met1304Arg Missense 28/52 - 4
12-6128674-T-C c.3910A>G p.Met1304Val Missense 28/52 - 1
12-6128694-TT-GC c.3889_3890delinsGC p.Lys1297Ala Missense 28/52 - 1
12-6128715-T-G c.3869A>C p.Glu1290Ala Missense 28/52 - 1
12-6128716-C-T c.3868G>A p.Glu1290Lys Missense 28/52 - 1
12-6128722-G-C c.3862C>G p.Leu1288Val Missense 28/52 - 1
12-6128725-T-C c.3859A>G p.Arg1287Gly Missense 28/52 - 2
12-6128730-G-A c.3854C>T p.Ser1285Phe Missense 28/52 - 2
12-6128736-T-G c.3848A>C p.Asp1283Ala Missense 28/52 - 1
12-6128737-C-A c.3847G>T p.Asp1283Tyr Missense 28/52 - 1
12-6128748-A-G c.3836T>C p.Val1279Ala Missense 28/52 - 1
12-6128749-C-T c.3835G>A p.Val1279Ile Missense 28/52 - 4
12-6128753-G-T c.3831C>A p.Asp1277Glu Missense 28/52 - 1
12-6128753-G-C c.3831C>G p.Asp1277Glu Missense 28/52 - 1
12-6128754-T-G c.3830A>C p.Asp1277Ala Missense 28/52 - 1
12-6128757-A-C c.3827T>G p.Leu1276Arg Missense 28/52 - 1
12-6128764-T-C c.3820A>G p.Arg1274Gly Missense 28/52 - 1
12-6128768-G-C c.3816C>G p.Cys1272Trp Missense 28/52 - 2
12-6128769-C-T c.3815G>A p.Cys1272Tyr Missense 28/52 - 2
12-6128769-C-A c.3815G>T p.Cys1272Phe Missense 28/52 - 2
12-6128770-A-T c.3814T>A p.Cys1272Ser Missense 28/52 - 4
12-6128770-A-C c.3814T>G p.Cys1272Gly Missense 28/52 - 4
12-6128770-A-G c.3814T>C p.Cys1272Arg Missense 28/52 - 7
12-6128769-C-G c.3815G>C p.Cys1272Ser Missense 28/52 - 4
12-6128772-T-G c.3812A>C p.Tyr1271Ser Missense 28/52 - 1
12-6128772-T-C c.3812A>G p.Tyr1271Cys Missense 28/52 - 2
12-6128775-A-G c.3809T>C p.Phe1270Ser Missense 28/52 - 1
12-6128782-G-T c.3802C>A p.His1268Asn Missense 28/52 - 1
12-6128782-G-C c.3802C>G p.His1268Asp Missense 28/52 - 3
12-6128784-A-G c.3800T>C p.Leu1267Ser Missense 28/52 - 1
12-6128787-GG-GA c.3796delinsT p.Pro1266Ser Missense 28/52 - 1
12-6128787-G-A c.3797C>T p.Pro1266Leu Missense 28/52 - 13
12-6128787-G-T c.3797C>A p.Pro1266Gln Missense 28/52 - 6
12-6128795-C-T c.3789G>A p.Ser1263Ser Synonymous 28/52 - 1
12-6128801-G-T c.3783C>A p.Asp1261Glu Missense 28/52 - 1
12-6128801-GTC-CAA c.3781_3783delinsTTG p.Asp1261Leu Missense 28/52 - 1
12-6128801-GTC-AAG c.3781_3783delinsCTT p.Asp1261Leu Missense 28/52 - 1
12-6128801-G-C c.3783C>G p.Asp1261Glu Missense 28/52 - 1
12-6128803-C-T c.3781G>A p.Asp1261Asn Missense 28/52 - 1
12-6128818-T-C c.3766A>G p.Thr1256Ala Missense 28/52 - 2
12-6128821-T-C c.3763A>G p.Thr1255Ala Missense 28/52 - 2
12-6128826-CT-GC c.3757_3758delinsGC p.Ser1253Ala Missense 28/52 - 1
12-6128842-T-C c.3742A>G p.Thr1248Ala Missense 28/52 - 2
12-6128882-A-C c.3702T>G p.Cys1234Trp Missense 28/52 - 3
12-6128885-G-GCTCTTG c.3699_3700insAAGAGC p.Thr1233_Cys1234insLysSer InFrameInsertion 28/52 - 1
12-6128885-G-GACT c.3698_3699insAGT p.Thr1233_Cys1234insVal InFrameInsertion 28/52 - 1
12-6128892-T-C c.3692A>G p.Asn1231Ser Missense 28/52 - 2
12-6128892-T-G c.3692A>C p.Asn1231Thr Missense 28/52 - 5
12-6128898-A-C c.3686T>G p.Val1229Gly Missense 28/52 - 5
12-6128905-A-G c.3679T>C p.Cys1227Arg Missense 28/52 - 1
12-6128923-C-T c.3675-14G>A - IntronicSNV - 27/51 2
12-6128984-T-C c.3675-75A>G - IntronicSNV - 27/51 4
12-6131067-A-C c.3673T>G p.Cys1225Gly Missense 27/52 - 4
12-6131078-TG-GC c.3661_3662delinsGC p.His1221Ala Missense 27/52 - 1
12-6131126-C-A c.3614G>T p.Arg1205Leu Missense 27/52 - 1
12-6131126-C-T c.3614G>A p.Arg1205His Missense 27/52 - 35
12-6131127-G-A c.3613C>T p.Arg1205Cys Missense 27/52 - 1
12-6131171-C-G c.3569G>C p.Cys1190Ser Missense 27/52 - 1
12-6131172-A-T c.3568T>A p.Cys1190Ser Missense 27/52 - 1
12-6131234-C-T c.3539-33G>A - IntronicSNV - 26/51 1
12-6131250-G-A c.3539-49C>T - IntronicSNV - 26/51 1
12-6131905-C-T c.3538+1G>A - IntronicSNV - 26/51 1
12-6131906-C-T c.3538G>A p.Gly1180Arg Missense 26/52 - 2
12-6131923-TG-GC c.3520_3521delinsGC p.His1174Ala Missense 26/52 - 1
12-6131950-C-A c.3494G>T p.Cys1165Phe Missense 26/52 - 1
12-6131959-G-A c.3485C>T p.Pro1162Leu Missense 26/52 - 3
12-6131964-CAGG-C c.3478_3480del p.Pro1160del InFrameDeletion 26/52 - 1
12-6131967-GG-G c.3479del p.Pro1160Leufs*55 Frameshift 26/52 - 1
12-6131968-TG-GC c.3475_3476delinsGC p.His1159Ala Missense 26/52 - 1
12-6131974-C-A c.3470G>T p.Cys1157Phe Missense 26/52 - 4
12-6131977-G-A c.3467C>T p.Thr1156Met Missense 26/52 - 2
12-6131986-C-T c.3458G>A p.Cys1153Tyr Missense 26/52 - 1
12-6131999-A-G c.3445T>C p.Cys1149Arg Missense 26/52 - 11
12-6132006-A-C c.3438T>G p.Tyr1146* Nonsense 26/52 - 1
12-6132007-T-C c.3437A>G p.Tyr1146Cys Missense 26/52 - 4
12-6132014-A-C c.3430T>G p.Trp1144Gly Missense 26/52 - 7
12-6132018-A-G c.3426T>C p.Cys1142Cys Synonymous 26/52 - 1
12-6132019-CA-GC c.3424_3425delinsGC p.Cys1142Ala Missense 26/52 - 3
12-6132054-G-A c.3390C>T p.Cys1130Cys Synonymous 26/52 - 2
12-6132055-C-T c.3389G>A p.Cys1130Tyr Missense 26/52 - 2
12-6132055-C-A c.3389G>T p.Cys1130Phe Missense 26/52 - 15
12-6132056-A-G c.3388T>C p.Cys1130Arg Missense 26/52 - 2
12-6132056-A-C c.3388T>G p.Cys1130Gly Missense 26/52 - 4
12-6132060-TCT-T c.3385_3386del p.Ser1129Leufs*12 Frameshift 26/52 - 1
12-6132790-T-G c.3379+7A>C - IntronicSNV - 25/51 1
12-6132796-C-T c.3379+1G>A - IntronicSNV - 25/51 3
12-6132797-G-A c.3379C>T p.Pro1127Ser Missense 25/52 - 1
12-6132811-G-A c.3365C>T p.Thr1122Met Missense 25/52 - 1
12-6132873-G-T c.3303C>A p.Cys1101* Nonsense 25/52 - 1
12-6132875-A-G c.3301T>C p.Cys1101Arg Missense 25/52 - 1
12-6132880-CA-GC c.3295_3296delinsGC p.Cys1099Ala Missense 25/52 - 5
12-6132880-CA-CC c.3295delinsG p.Cys1099Gly Missense 25/52 - 1
12-6132880-C-T c.3296G>A p.Cys1099Tyr Missense 25/52 - 4
12-6132885-G-A c.3291C>T p.Cys1097Cys Synonymous 25/52 - 1
12-6132894-AAT-TGG c.3280_3282delinsCCA p.Ile1094Pro Missense 25/52 - 1
12-6132895-A-G c.3281T>C p.Ile1094Thr Missense 25/52 - 1
12-6132936-A-G c.3240T>C p.Tyr1080Tyr Synonymous 25/52 - 1
12-6132938-A-AAGGCTCAGGGTCTACTTGAAG c.3237_3238insCTTCAAGTAGACCCTGAGCCT p.Pro1079_Tyr1080insLeuGlnValAspProGluPro InFrameInsertion 25/52 - 1
12-6132944-C-T c.3232G>A p.Glu1078Lys Missense 25/52 - 1
12-6132945-G-C c.3231C>G p.Pro1077Pro Synonymous 25/52 - 1
12-6133079-T-C c.3223-126A>G - IntronicSNV - 24/51 1
12-6134231-C-A c.3222+515G>T - IntronicSNV - 24/51 2
12-6134231-C-G c.3222+515G>C - IntronicSNV - 24/51 2
12-6134231-C-T c.3222+515G>A - IntronicSNV - 24/51 2
12-6134715-G-A c.3222+31C>T - IntronicSNV - 24/51 1
12-6134786-CT-CA c.3181delinsT p.Arg1061* Missense 24/52 - 1
12-6134789-C-T c.3179G>A p.Cys1060Tyr Missense 24/52 - 3
12-6134790-A-G c.3178T>C p.Cys1060Arg Missense 24/52 - 5
12-6134809-C-A c.3159G>T p.Gln1053His Missense 24/52 - 4
12-6134809-C-G c.3159G>C p.Gln1053His Missense 24/52 - 4
12-6134829-G-A c.3139C>T p.His1047Tyr Missense 24/52 - 1
12-6135067-C-T c.3108+5G>A - IntronicSNV - 23/51 1
12-6135072-CTTTTCTGGTGTCAGCACACTGCGAGCTCACTTTCCAGGAGTTCCCAAAGTCCACAGGGT-C c.3050_3108del p.Asp1017Glyfs*12 InFrameDeletion 23/52 - 1
12-6135079-GGTG-G c.3101_3103del p.Thr1034del InFrameDeletion 23/52 - 1
12-6135091-T-C c.3089A>G p.Gln1030Arg Missense 23/52 - 2
12-6136153-T-C c.2968-941A>G - IntronicSNV - 22/51 1
12-6136634-G-A c.2968-1422C>T - IntronicSNV - 22/51 1
12-6136914-A-G c.2967+1594T>C - IntronicSNV - 22/51 1
12-6136968-G-C c.2967+1540C>G - IntronicSNV - 22/51 1
12-6137456-A-C c.2967+1052T>G - IntronicSNV - 22/51 1
12-6138539-C-T c.2936G>A p.Ser979Asn Missense 22/52 - 1
12-6138540-CTCAGGT-C c.2930_2935del p.His977_Ser979delinsArg MultiAAMissense 22/52 - 1
12-6138549-G-A c.2926C>T p.Arg976Cys Missense 22/52 - 2
12-6138566-GAGG-G c.2908_2910del p.Leu970del InFrameDeletion 22/52 - 1
12-6138569-GG-G c.2908del p.Leu970Serfs*9 Frameshift 22/52 - 1
12-6138575-C-T c.2900G>A p.Gly967Asp Missense 22/52 - 3
12-6138595-C-T c.2880G>A p.Arg960Arg Synonymous 22/52 - 7
12-6138596-CG-TA c.2878_2879delinsTA p.Arg960* Nonsense 22/52 - 1
12-6138596-C-G c.2879G>C p.Arg960Pro Missense 22/52 - 2
12-6138597-G-T c.2878C>A p.Arg960Arg Synonymous 22/52 - 2
12-6138597-G-A c.2878C>T p.Arg960Trp Missense 22/52 - 2
12-6138595-C-G c.2880G>C p.Arg960Arg Synonymous 22/52 - 2
12-6138595-C-A c.2880G>T p.Arg960Arg Synonymous 22/52 - 2
12-6138777-T-G c.2821-123A>C - IntronicSNV - 21/51 1
12-6139261-A-C c.2821-607T>G - IntronicSNV - 21/51 3
12-6139692-C-A c.2820+918G>T - IntronicSNV - 21/51 1
12-6139692-C-T c.2820+918G>A - IntronicSNV - 21/51 1
12-6140615-C-G c.2815G>C p.Gly939Arg Missense 21/52 - 1
12-6140615-C-T c.2815G>A p.Gly939Arg Missense 21/52 - 1
12-6140659-C-T c.2771G>A p.Arg924Gln Missense 21/52 - 18
12-6140660-G-A c.2770C>T p.Arg924Trp Missense 21/52 - 1
12-6140667-G-T c.2763C>A p.Cys921* Nonsense 21/52 - 1
12-6140677-G-C c.2753C>G p.Ser918* Nonsense 21/52 - 1
12-6140697-A-AA c.2733dup p.Lys912* Nonsense 21/52 - 1
12-6140727-G-T c.2703C>A p.Asn901Lys Missense 21/52 - 1
12-6143854-C-G c.2685G>C p.Gln895His Missense 20/52 - 1
12-6143854-C-A c.2685G>T p.Gln895His Missense 20/52 - 1
12-6143856-TGCACCAGAACGTACTGGCACTCCCCGGGGAACAGGTATTTGAGCCCGTCGAAGGTGAGG-T c.2625_2683del p.Tyr875* InFrameDeletion 20/52 - 1
12-6143874-A-G c.2665T>C p.Cys889Arg Missense 20/52 - 1
12-6143897-A-C c.2642T>G p.Leu881Arg Missense 20/52 - 1
12-6143898-AG-A c.2641del p.Leu881Serfs*28 Frameshift 20/52 - 1
12-6143904-C-T c.2635G>A p.Asp879Asn Missense 20/52 - 1
12-6143913-G-A c.2626C>T p.Leu876Phe Missense 20/52 - 1
12-6143918-TG-GC c.2620_2621delinsGC p.His874Ala Missense 20/52 - 1
12-6143957-ATGGTCTGTGCA-A c.2574_2584del p.Thr859Valfs*2 Frameshift 20/52 - 1
12-6143965-G-C c.2574C>G p.Cys858Trp Missense 20/52 - 2
12-6143966-C-A c.2573G>T p.Cys858Phe Missense 20/52 - 3
12-6143967-A-T c.2572T>A p.Cys858Ser Missense 20/52 - 2
12-6143966-C-G c.2573G>C p.Cys858Ser Missense 20/52 - 2
12-6143968-GTT-CAA c.2569_2571delinsTTG p.Asn857Leu Missense 20/52 - 2
12-6143977-CC-AT c.2561_2562delinsAT p.Arg854His Missense 20/52 - 1
12-6143978-CG-AA c.2560_2561delinsTT p.Arg854Leu Missense 20/52 - 1
12-6143978-C-T c.2561G>A p.Arg854Gln Missense 20/52 - 35
12-6143979-G-C c.2560C>G p.Arg854Gly Missense 20/52 - 1
12-6143979-G-A c.2560C>T p.Arg854Trp Missense 20/52 - 4
12-6143984-T-C c.2555A>G p.Arg852Arg Missense 20/52 - 8
12-6145551-C-G c.2546+3G>C - IntronicSNV - 19/51 1
12-6145585-CC-C c.2516del p.Gly839Glufs*4 Frameshift 19/52 - 2
12-6145590-G-A c.2510C>T p.Ala837Val Missense 19/52 - 1
12-6145590-G-T c.2510C>A p.Ala837Asp Missense 19/52 - 2
12-6145608-TG-GC c.2491_2492delinsGC p.His831Ala Missense 19/52 - 1
12-6145649-A-T c.2451T>A p.His817Gln Missense 19/52 - 7
12-6145653-C-T c.2447G>A p.Arg816Gln Missense 19/52 - 1
12-6145654-G-A c.2446C>T p.Arg816Trp Missense 19/52 - 13
12-6145658-C-G c.2443-1G>C - IntronicSNV - 18/51 2
12-6146630-G-A c.2443-973C>T - IntronicSNV - 18/51 1
12-6146630-G-C c.2443-973C>G - IntronicSNV - 18/51 1
12-6148005-T-G c.2443-2348A>C - IntronicSNV - 18/51 3
12-6148005-T-C c.2443-2348A>G - IntronicSNV - 18/51 3
12-6148326-A-G c.2443-2669T>C - IntronicSNV - 18/51 1
12-6148555-A-G c.2443-2898T>C - IntronicSNV - 18/51 3
12-6148674-G-A c.2443-3017C>T - IntronicSNV - 18/51 1
12-6149738-T-G c.2442+3719A>C - IntronicSNV - 18/51 1
12-6149776-GAGGCAGGATTCAAACCTGGAAGTGTGAGGTTCCGATACCATGCCGTTTCCAGGCGGTTT-G c.2442+3623_2442+3681del - Unclassified - 18/51 1
12-6149799-G-A c.2442+3658C>T - IntronicSNV - 18/51 1
12-6153463-C-CC c.2438dup p.Met814Hisfs*5 Frameshift 18/52 - 2
12-6153464-G-A c.2435C>T p.Pro812Leu Missense 18/52 - 2
12-6153469-G-T c.2430C>A p.Cys810* Nonsense 18/52 - 1
12-6153469-GG-G c.2435del p.Pro812Argfs*31 Frameshift 18/52 - 11
12-6153488-C-A c.2411G>T p.Cys804Phe Missense 18/52 - 3
12-6153501-T-C c.2398A>G p.Met800Val Missense 18/52 - 1
12-6153506-T-G c.2393A>C p.Glu798Ala Missense 18/52 - 1
12-6153512-T-G c.2387A>C p.Asp796Ala Missense 18/52 - 1
12-6153513-C-T c.2386G>A p.Asp796Asn Missense 18/52 - 1
12-6153514-A-G c.2385T>C p.Tyr795Tyr Synonymous 18/52 - 17
12-6153515-T-C c.2384A>G p.Tyr795Cys Missense 18/52 - 3
12-6153522-G-A c.2377C>T p.Gln793* Nonsense 18/52 - 1
12-6153527-G-A c.2372C>T p.Thr791Met Missense 18/52 - 9
12-6153530-TT-GC c.2368_2369delinsGC p.Lys790Ala Missense 18/52 - 1
12-6153534-T-C c.2365A>G p.Thr789Ala Missense 18/52 - 37
12-6153534-T-G c.2365A>C p.Thr789Pro Missense 18/52 - 25
12-6153536-C-T c.2363G>A p.Cys788Tyr Missense 18/52 - 2
12-6153537-A-G c.2362T>C p.Cys788Arg Missense 18/52 - 6
12-6153539-T-G c.2360A>C p.Glu787Ala Missense 18/52 - 1
12-6153540-C-G c.2359G>C p.Glu787Gln Missense 18/52 - 1
12-6153540-C-T c.2359G>A p.Glu787Lys Missense 18/52 - 4
12-6153542-AG-GC c.2356_2357delinsGC p.Leu786Ala Missense 18/52 - 1
12-6153545-C-T c.2354G>A p.Gly785Glu Missense 18/52 - 1
12-6153548-T-G c.2351A>C p.Glu784Ala Missense 18/52 - 1
12-6153554-CG-GC c.2344_2345delinsGC p.Arg782Ala Missense 18/52 - 1
12-6153554-C-T c.2345G>A p.Arg782Gln Missense 18/52 - 1
12-6153555-G-A c.2344C>T p.Arg782Trp Missense 18/52 - 5
12-6153559-G-C c.2340C>G p.Asn780Lys Missense 18/52 - 1
12-6153581-TT-GC c.2317_2318delinsGC p.Lys773Ala Missense 18/52 - 1
12-6153586-C-A c.2313G>T p.Met771Ile Missense 18/52 - 3
12-6153587-A-G c.2312T>C p.Met771Thr Missense 18/52 - 1
12-6153591-G-A c.2308C>T p.Pro770Ser Missense 18/52 - 1
12-6153596-C-T c.2303G>A p.Arg768Gln Missense 18/52 - 1
12-6153608-CT-GC c.2290_2291delinsGC p.Ser764Ala Missense 18/52 - 1
12-6153610-C-A c.2289G>T p.Arg763Ser Missense 18/52 - 2
12-6153610-C-G c.2289G>C p.Arg763Ser Missense 18/52 - 2
12-6153610-CCT-TGT c.2288_2289delinsCA p.Arg763Thr Missense 18/52 - 1
12-6153611-C-A c.2288G>T p.Arg763Met Missense 18/52 - 1
12-6153611-C-CC c.2289dup p.Ser764Glufs*16 Frameshift 18/52 - 1
12-6153612-T-C c.2287A>G p.Arg763Gly Missense 18/52 - 5
12-6153619-T-C c.2282-2A>G - IntronicSNV - 17/51 1
12-6153659-G-C c.2282-42C>G - IntronicSNV - 17/51 1
12-6153659-G-T c.2282-42C>A - IntronicSNV - 17/51 2
12-6153967-T-A c.2282-350A>T - IntronicSNV - 17/51 1
12-6154206-T-C c.2282-589A>G - IntronicSNV - 17/51 1
12-6155885-T-C c.2281+4A>G - IntronicSNV - 17/51 1
12-6155891-C-T c.2279G>A p.Arg760His Missense 17/52 - 2
12-6155891-C-A c.2279G>T p.Arg760Leu Missense 17/52 - 1
12-6155892-G-A c.2278C>T p.Arg760Cys Missense 17/52 - 4
12-6155900-CAG-C c.2269_2270del p.Leu757Valfs*22 Frameshift 17/52 - 1
12-6155950-C-T c.2220G>A p.Met740Ile Missense 17/52 - 14
12-6155960-TG-GC c.2209_2210delinsGC p.His737Ala Missense 17/52 - 1
12-6155960-T-C c.2210A>G p.His737Arg Missense 17/52 - 1
12-6155962-C-A c.2208G>T p.Met736Ile Missense 17/52 - 1
12-6156477-C-A c.2187-494G>T - IntronicSNV - 16/51 2
12-6156477-C-T c.2187-494G>A - IntronicSNV - 16/51 2
12-6156635-A-T c.2187-652T>A - IntronicSNV - 16/51 2
12-6156635-A-G c.2187-652T>C - IntronicSNV - 16/51 2
12-6157394-T-C c.2187-1411A>G - IntronicSNV - 16/51 1
12-6159045-C-T c.2186+2664G>A - IntronicSNV - 16/51 1
12-6160146-T-A c.2186+1563A>T - IntronicSNV - 16/51 1
12-6160146-T-C c.2186+1563A>G - IntronicSNV - 16/51 1
12-6160614-C-T c.2186+1095G>A - IntronicSNV - 16/51 1
12-6161721-TG-GC c.2173_2174delinsGC p.His725Ala Missense 16/52 - 1
12-6161739-TT-T c.2157del p.Asp720Thrfs*21 Frameshift 16/52 - 1
12-6161742-G-A c.2153C>T p.Pro718Leu Missense 16/52 - 1
12-6161779-G-A c.2116C>T p.Gln706* Nonsense 16/52 - 1
12-6161803-T-A c.2092A>T p.Arg698Trp Missense 16/52 - 1
12-6161856-T-C c.2039A>G p.Asn680Ser Missense 16/52 - 1
12-6161874-GTAAGAG-G c.2017_2022del p.Ser673_Tyr674del InFrameDeletion 16/52 - 1
12-6161875-TAA-T c.2019_2020del p.Tyr674Profs*3 Frameshift 16/52 - 1
12-6161887-G-A c.2008C>T p.Arg670Cys Missense 16/52 - 1
12-6161937-G-A c.1958C>T p.Pro653Leu Missense 16/52 - 1
12-6161950-C-T c.1946-1G>A - IntronicSNV - 15/51 1
12-6161966-AAG-AAGAAG c.1946-17_1946-15dup - IntronicInsertion - 15/51 1
12-6162661-G-C c.1946-712C>G - IntronicSNV - 15/51 1
12-6162661-G-A c.1946-712C>T - IntronicSNV - 15/51 1
12-6162754-A-G c.1946-805T>C - IntronicSNV - 15/51 1
12-6162852-T-G c.1946-903A>C - IntronicSNV - 15/51 1
12-6162852-T-C c.1946-903A>G - IntronicSNV - 15/51 1
12-6164455-C-T c.1945+1568G>A - IntronicSNV - 15/51 1
12-6164455-C-G c.1945+1568G>C - IntronicSNV - 15/51 1
12-6166042-C-T c.1926G>A p.Trp642* Nonsense 15/52 - 1
12-6166046-G-A c.1922C>T p.Ala641Val Missense 15/52 - 1
12-6166071-A-G c.1897T>C p.Cys633Arg Missense 15/52 - 2
12-6166076-G-A c.1892C>T p.Ala631Val Missense 15/52 - 3
12-6166083-TA-T c.1885del p.Tyr629Metfs*22 Frameshift 15/52 - 1
12-6166105-G-T c.1863C>A p.Cys621* Nonsense 15/52 - 1
12-6166130-C-G c.1838G>C p.Cys613Ser Missense 15/52 - 1
12-6166131-A-T c.1837T>A p.Cys613Ser Missense 15/52 - 1
12-6166138-G-T c.1830C>A p.Tyr610* Nonsense 15/52 - 1
12-6166151-C-T c.1817G>A p.Arg606Gln Missense 15/52 - 1
12-6166156-G-T c.1812C>A p.Tyr604* Nonsense 15/52 - 1
12-6166177-ACG-TGG c.1790_1791delinsCA p.Arg597Pro Missense 15/52 - 1
12-6166181-TG-GC c.1786_1787delinsGC p.His596Ala Missense 15/52 - 1
12-6166181-T-C c.1787A>G p.His596Arg Missense 15/52 - 1
12-6166187-G-C c.1781C>G p.Ala594Gly Missense 15/52 - 1
12-6166193-A-T c.1775T>A p.Phe592Tyr Missense 15/52 - 1
12-6166214-G-T c.1754C>A p.Ala585Glu Missense 15/52 - 1
12-6166217-C-A c.1751G>T p.Cys584Phe Missense 15/52 - 3
12-6166238-GGCTG-G c.1730_1733del p.Thr577Serfs*10 SpliceAcceptorDeletion 15/52 14/51 1
12-6166239-C-G c.1730-1G>C - IntronicSNV - 14/51 1
12-6167012-T-G c.1729+3A>C - IntronicSNV - 14/51 1
12-6167016-C-G c.1728G>C p.Met576Ile Missense 14/52 - 1
12-6167016-C-A c.1728G>T p.Met576Ile Missense 14/52 - 1
12-6167016-C-T c.1728G>A p.Met576Ile Missense 14/52 - 1
12-6167036-A-T c.1708T>A p.Cys570Ser Missense 14/52 - 1
12-6167035-C-G c.1709G>C p.Cys570Ser Missense 14/52 - 1
12-6167043-G-C c.1701C>G p.Ser567Arg Missense 14/52 - 1
12-6167051-G-A c.1693C>T p.Gln565* Nonsense 14/52 - 1
12-6167058-GC-G c.1686del p.Gln563Argfs*14 Frameshift 14/52 - 1
12-6167087-A-AA c.1657dup p.Trp553Leufs*97 Frameshift 14/52 - 1
12-6167097-G-C c.1647C>G p.Phe549Leu Missense 14/52 - 1
12-6167097-G-T c.1647C>A p.Phe549Leu Missense 14/52 - 1
12-6167099-A-G c.1645T>C p.Phe549Leu Missense 14/52 - 1
12-6167107-A-C c.1637T>G p.Val546Gly Missense 14/52 - 1
12-6167110-C-G c.1634G>C p.Arg545Pro Missense 14/52 - 1
12-6167119-G-C c.1625C>G p.Ala542Gly Missense 14/52 - 1
12-6167156-T-G c.1588A>C p.Asn530His Missense 14/52 - 1
12-6167161-T-C c.1583A>G p.Asn528Ser Missense 14/52 - 5
12-6167164-T-A c.1580A>T p.Tyr527Phe Missense 14/52 - 1
12-6167173-C-T c.1571G>A p.Cys524Tyr Missense 14/52 - 2
12-6167196-A-T c.1548T>A p.Tyr516* Nonsense 14/52 - 2
12-6167196-A-G c.1548T>C p.Tyr516Tyr Synonymous 14/52 - 1
12-6167213-G-T c.1534-3C>A - IntronicSNV - 13/51 1
12-6169027-T-C c.1534-1817A>G - IntronicSNV - 13/51 2
12-6169198-T-C c.1534-1988A>G - IntronicSNV - 13/51 2
12-6169323-T-G c.1534-2113A>C - IntronicSNV - 13/51 1
12-6169733-T-C c.1533+2387A>G - IntronicSNV - 13/51 3
12-6170486-G-A c.1533+1634C>T - IntronicSNV - 13/51 1
12-6170486-G-T c.1533+1634C>A - IntronicSNV - 13/51 1
12-6172119-C-T c.1533+1G>A - IntronicSNV - 13/51 1
12-6172119-C-A c.1533+1G>T - IntronicSNV - 13/51 1
12-6172158-G-A c.1495C>T p.Gln499* Nonsense 13/52 - 1
12-6172182-G-A c.1471C>T p.Arg491Cys Missense 13/52 - 1
12-6172190-G-C c.1463C>G p.Ala488Gly Missense 13/52 - 2
12-6172202-T-C c.1451A>G p.His484Arg Missense 13/52 - 5
12-6172202-T-A c.1451A>T p.His484Leu Missense 13/52 - 3
12-6172207-G-C c.1446C>G p.Ile482Met Missense 13/52 - 1
12-6172212-G-A c.1441C>T p.Arg481Cys Missense 13/52 - 1
12-6173433-C-T c.1411G>A p.Val471Ile Missense 12/52 - 2
12-6173464-ATG-AAG c.1379delinsT p.His460Leu Missense 12/52 - 1
12-6173465-T-C c.1379A>G p.His460Arg Missense 12/52 - 1
12-6173465-TG-GC c.1378_1379delinsGC p.His460Ala Missense 12/52 - 1
12-6173473-GTTTCACAAGGCTGTTGTGCAGGCCAGG-G c.1346_1372del p.Pro449_Lys457del InFrameDeletion 12/52 - 1
12-6173538-G-A c.1306C>T p.Arg436Cys Missense 12/52 - 1
12-6174328-GAAG-G c.1268_1270del p.Phe423del InFrameDeletion 11/52 - 1
12-6174341-G-A c.1255C>T p.Gln419* Nonsense 11/52 - 1
12-6174349-C-T c.1247G>A p.Arg416Gln Missense 11/52 - 1
12-6174350-G-A c.1246C>T p.Arg416Trp Missense 11/52 - 1
12-6174368-A-T c.1228T>A p.Cys410Ser Missense 11/52 - 1
12-6174367-C-G c.1229G>C p.Cys410Ser Missense 11/52 - 1
12-6174374-C-T c.1222G>A p.Gly408Arg Missense 11/52 - 1
12-6174374-C-G c.1222G>C p.Gly408Arg Missense 11/52 - 1
12-6174412-T-C c.1184A>G p.His395Arg Missense 11/52 - 1
12-6174412-TG-GC c.1183_1184delinsGC p.His395Ala Missense 11/52 - 1
12-6174414-T-G c.1182A>C p.Ser394Ser Synonymous 11/52 - 1
12-6174423-T-A c.1173A>T p.Thr391Thr Synonymous 11/52 - 2
12-6174432-G-C c.1164C>G p.Cys388Trp Missense 11/52 - 1
12-6174729-G-A c.1157-290C>T - IntronicSNV - 10/51 1
12-6174729-G-C c.1157-290C>G - IntronicSNV - 10/51 1
12-6175579-T-C c.1157-1140A>G - IntronicSNV - 10/51 1
12-6175579-T-G c.1157-1140A>C - IntronicSNV - 10/51 1
12-6180472-C-A c.1147G>T p.Glu383* Nonsense 10/52 - 1
12-6180484-A-C c.1135T>G p.Cys379Gly Missense 10/52 - 2
12-6180489-C-T c.1130G>A p.Trp377* Nonsense 10/52 - 1
12-6180502-G-A c.1117C>T p.Arg373* Nonsense 10/52 - 2
12-6180507-A-G c.1112T>C p.Ile371Thr Missense 10/52 - 1
12-6181495-A-G c.1109+2T>C - IntronicSNV - 9/51 1
12-6181497-C-T c.1109G>A p.Cys370Tyr Missense 9/52 - 1
12-6181513-G-A c.1093C>T p.Arg365* Nonsense 9/52 - 1
12-6181519-G-A c.1087C>T p.Leu363Phe Missense 9/52 - 1
12-6181528-C-T c.1078G>A p.Gly360Ser Missense 9/52 - 1
12-6181546-C-T c.1060G>A p.Gly354Arg Missense 9/52 - 1
12-6181561-G-A c.1045C>T p.Pro349Ser Missense 9/52 - 1
12-6181561-GG-G c.1047del p.Cys350Alafs*107 Frameshift 9/52 - 1
12-6181569-G-A c.1037C>T p.Thr346Ile Missense 9/52 - 3
12-6182808-C-A c.974G>T p.Cys325Phe Missense 8/52 - 2
12-6182811-C-T c.971G>A p.Arg324Gln Missense 8/52 - 1
12-6182812-G-A c.970C>T p.Arg324* Nonsense 8/52 - 4
12-6182828-A-T c.954T>A p.Asn318Lys Missense 8/52 - 2
12-6182850-G-A c.932C>T p.Thr311Ile Missense 8/52 - 1
12-6182865-G-C c.917C>G p.Ser306Cys Missense 8/52 - 1
12-6182878-T-TGTTGCT c.905_906insCAACAG p.Tyr301_Arg302insSerAsn InFrameInsertion 8/52 - 1
12-6182879-A-T c.903T>A p.Tyr301* Nonsense 8/52 - 1
12-6182906-GG-G c.878del p.Pro293Glnfs*164 Frameshift 8/52 - 2
12-6183181-T-C c.875-274A>G - IntronicSNV - 7/51 1
12-6184496-C-T c.874+5G>A - IntronicSNV - 7/51 1
12-6184551-C-G c.824G>C p.Cys275Ser Missense 7/52 - 1
12-6184552-A-G c.823T>C p.Cys275Arg Missense 7/52 - 1
12-6184552-A-T c.823T>A p.Cys275Ser Missense 7/52 - 1
12-6184557-C-G c.818G>C p.Arg273Pro Missense 7/52 - 1
12-6184558-G-A c.817C>T p.Arg273Trp Missense 7/52 - 7
12-6184562-G-T c.813C>A p.Tyr271* Nonsense 7/52 - 1
12-6184639-AAAGGCTC-A c.730_736del p.Glu244Leufs*211 Frameshift 7/52 - 1
12-6184653-A-C c.722T>G p.Val241Gly Missense 7/52 - 1
12-6184668-C-T c.707G>A p.Arg236His Missense 7/52 - 1
12-6186667-A-G c.658-1950T>C - IntronicSNV - 6/51 5
12-6187665-G-T c.658-2948C>A - IntronicSNV - 6/51 3
12-6194655-T-C c.658-9938A>G - IntronicSNV - 6/51 1
12-6196183-C-A c.657+8443G>T - IntronicSNV - 6/51 2
12-6196183-C-T c.657+8443G>A - IntronicSNV - 6/51 2
12-6200443-C-T c.657+4183G>A - IntronicSNV - 6/51 1
12-6200443-C-G c.657+4183G>C - IntronicSNV - 6/51 1
12-6202049-G-A c.657+2577C>T - IntronicSNV - 6/51 1
12-6202049-G-T c.657+2577C>A - IntronicSNV - 6/51 1
12-6202818-A-G c.657+1808T>C - IntronicSNV - 6/51 1
12-6204678-C-T c.605G>A p.Arg202Gln Missense 6/52 - 1
12-6204678-C-G c.605G>C p.Arg202Pro Missense 6/52 - 1
12-6204699-CT-GC c.583_584delinsGC p.Ser195Ala Missense 6/52 - 1
12-6204703-T-C c.580A>G p.Ser194Gly Missense 6/52 - 1
12-6204737-C-T c.546G>A p.Ser182Ser Synonymous 6/52 - 2
12-6208618-T-C c.533-3868A>G - IntronicSNV - 5/51 1
12-6208695-C-T c.533-3945G>A - IntronicSNV - 5/51 1
12-6208695-C-A c.533-3945G>T - IntronicSNV - 5/51 1
12-6212487-CCGTCTCAAAAAATATATATATATATGTGTGTATATATACATATATATGTGTGTGTGTGT-C c.532+6995_532+7053del - Unclassified - 5/51 3
12-6215634-A-G c.532+3906T>C - IntronicSNV - 5/51 2
12-6215634-A-T c.532+3906T>A - IntronicSNV - 5/51 2
12-6219557-T-C c.515A>G p.Asp172Gly Missense 5/52 - 1
12-6219574-TGTT-T c.497_499del p.Asn166del InFrameDeletion 5/52 - 1
12-6219575-T-A c.497A>T p.Asn166Ile Missense 5/52 - 2
12-6219576-TT-T c.497del p.Asn166Thrfs*9 Frameshift 5/52 - 1
12-6219594-C-T c.478G>A p.Gly160Arg Missense 5/52 - 2
12-6219594-C-A c.478G>T p.Gly160Trp Missense 5/52 - 3
12-6219603-T-C c.469A>G p.Lys157Glu Missense 5/52 - 1
12-6219623-A-G c.449T>C p.Leu150Pro Missense 5/52 - 1
12-6219647-C-T c.425G>A p.Gly142Asp Missense 5/52 - 1
12-6219651-C-A c.421G>T p.Asp141Tyr Missense 5/52 - 3
12-6219651-C-T c.421G>A p.Asp141Asn Missense 5/52 - 1
12-6219663-C-A c.409G>T p.Val137Leu Missense 5/52 - 1
12-6219681-C-T c.391G>A p.Gly131Ser Missense 5/52 - 2
12-6219682-G-A c.390C>T p.Ser130Ser Synonymous 5/52 - 1
12-6219686-A-G c.386T>C p.Leu129Pro Missense 5/52 - 1
12-6219687-G-T c.385C>A p.Leu129Met Missense 5/52 - 4
12-6220043-CCT-C c.311_312del p.Gln104Argfs*19 Frameshift 4/52 - 2
12-6220048-T-C c.307A>G p.Thr103Ala Missense 4/52 - 1
12-6220051-C-T c.304G>A p.Val102Met Missense 4/52 - 1
12-6220058-ATT-CAA c.295_297delinsTTG p.Asn99Leu Missense 4/52 - 2
12-6220071-TG-GC c.283_284delinsGC p.His95Ala Missense 4/52 - 1
12-6220095-T-G c.260A>C p.Tyr87Ser Missense 4/52 - 7
12-6220126-G-A c.229C>T p.Gln77* Nonsense 4/52 - 1
12-6225931-G-A c.220+4409C>T - IntronicSNV - 3/51 1
12-6228777-CTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAA-C c.220+1505_220+1563del - Unclassified - 3/51 1
12-6230320-C-A c.220+20G>T - IntronicSNV - 3/51 1
12-6230341-CAATAATCGAGAAGGAGCGTTTCTGGCAGCCCCCTGCCAGGAGGTAACTGCAGTATCCCG-C c.161_219del p.Ala54Glyfs*20 Unclassified 3/52 - 1
12-6230355-A-C c.205T>G p.Ser69Ala Missense 3/52 - 1
12-6230357-CG-GC c.202_203delinsGC p.Arg68Ala Missense 3/52 - 1
12-6230366-CA-GC c.193_194delinsGC p.Cys65Ala Missense 3/52 - 2
12-6230374-TG-AC c.185_186delinsGT p.Ala62Gly Missense 3/52 - 1
12-6230389-G-T c.171C>A p.Cys57* Nonsense 3/52 - 1
12-6230390-CA-CT c.169delinsA p.Cys57Ser Missense 3/52 - 2
12-6230404-GCT-TGA c.154_156delinsTCA p.Ser52Ser Nonsense 3/52 - 1
12-6230413-G-T c.147C>A p.Ser49Arg Missense 3/52 - 1
12-6230418-C-A c.142G>T p.Gly48Trp Missense 3/52 - 1
12-6230445-C-G c.115G>C p.Gly39Arg Missense 3/52 - 1
12-6230445-C-T c.115G>A p.Gly39Arg Missense 3/52 - 1
12-6230460-G-A c.100C>T p.Arg34* Nonsense 3/52 - 1
12-6230460-G-C c.100C>G p.Arg34Gly Missense 3/52 - 1
12-6230502-T-C c.58A>G p.Thr20Ala Missense 3/52 - 1
12-6232307-C-CT c.55_55+1insA p.Gly19Glufs*23 SpliceDonorInsertion - - 1
12-6232308-C-G c.55G>C p.Gly19Arg Missense 2/52 - 1
12-6232308-C-T c.55G>A p.Gly19Arg Missense 2/52 - 1
12-6232325-AG-GC c.37_38delinsGC p.Leu13Ala Missense 2/52 - 1
12-6232336-CAC-ATC c.26_27delinsAT p.Val9Asp Missense 2/52 - 1
12-6232350-T-TT c.13dup p.Arg5Lysfs*37 Frameshift 2/52 - 1
12-6232362-T-C c.1A>G p.Met1? Missense 2/52 - 1
12-6232426-G-A c.1-64C>T - IntronicSNV - 1/51 1