Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
9-107544685-G-A | c.*1911C>T | - | 3-UTRSNV | 50/50 | - | 1 |
9-107544700-C-T | c.*1896G>A | - | 3-UTRSNV | 50/50 | - | 7 |
9-107545156-G-A | c.*1440C>T | - | 3-UTRSNV | 50/50 | - | 4 |
9-107545903-G-A | c.*693C>T | - | 3-UTRSNV | 50/50 | - | 5 |
9-107546630-AG-GC | c.6751_6752delinsGC | p.Leu2251Ala | Missense | 50/50 | - | 1 |
9-107546642-AG-GC | c.6739_6740delinsGC | p.Leu2247Ala | Missense | 50/50 | - | 2 |
9-107546652-C-T | c.6730G>A | p.Val2244Ile | Missense | 50/50 | - | 1 |
9-107546665-CTG-AAC | c.6715_6717delinsGTT | p.Gln2239Val | Missense | 50/50 | - | 1 |
9-107547622-C-G | c.6645+55G>C | - | IntronicSNV | - | 49/49 | 3 |
9-107547622-C-T | c.6645+55G>A | - | IntronicSNV | - | 49/49 | 3 |
9-107547692-C-A | c.6630G>T | p.Gln2210His | Missense | 49/50 | - | 1 |
9-107547692-C-G | c.6630G>C | p.Gln2210His | Missense | 49/50 | - | 1 |
9-107547724-G-A | c.6598C>T | p.Arg2200* | Nonsense | 49/50 | - | 1 |
9-107547873-G-A | c.6449C>T | p.Pro2150Leu | Missense | 49/50 | - | 2 |
9-107547892-G-A | c.6430C>T | p.Arg2144* | Nonsense | 49/50 | - | 5 |
9-107548462-T-C | c.6401+117A>G | - | IntronicSNV | - | 48/49 | 1 |
9-107548577-A-G | c.6401+2T>C | - | IntronicSNV | - | 48/49 | 1 |
9-107548637-C-T | c.6343G>A | p.Ala2115Thr | Missense | 48/50 | - | 1 |
9-107548655-C-T | c.6325G>A | p.Ala2109Thr | Missense | 48/50 | - | 2 |
9-107549191-C-T | c.6271G>A | p.Val2091Ile | Missense | 47/50 | - | 2 |
9-107549221-G-A | c.6241C>T | p.Arg2081Trp | Missense | 47/50 | - | 2 |
9-107549244-G-A | c.6218C>T | p.Thr2073Ile | Missense | 47/50 | - | 1 |
9-107550201-C-G | c.6204G>C | p.Leu2068Leu | Synonymous | 46/50 | - | 1 |
9-107550222-G-A | c.6183C>T | p.Gly2061Gly | Synonymous | 46/50 | - | 1 |
9-107550267-A-C | c.6138T>G | p.Ser2046Arg | Missense | 46/50 | - | 3 |
9-107550267-A-T | c.6138T>A | p.Ser2046Arg | Missense | 46/50 | - | 3 |
9-107550269-T-G | c.6136A>C | p.Ser2046Arg | Missense | 46/50 | - | 3 |
9-107550322-G-A | c.6083C>T | p.Ala2028Val | Missense | 46/50 | - | 1 |
9-107550639-A-G | c.6069+68T>C | - | IntronicSNV | - | 45/49 | 1 |
9-107550750-A-G | c.6026T>C | p.Phe2009Ser | Missense | 45/50 | - | 3 |
9-107550765-C-T | c.6011G>A | p.Arg2004Lys | Missense | 45/50 | - | 2 |
9-107551180-C-T | c.5928-332G>A | - | IntronicSNV | - | 44/49 | 2 |
9-107551538-C-T | c.5928-690G>A | - | IntronicSNV | - | 44/49 | 1 |
9-107552924-A-G | c.5927+279T>C | - | IntronicSNV | - | 44/49 | 1 |
9-107553185-A-G | c.5927+18T>C | - | IntronicSNV | - | 44/49 | 1 |
9-107553269-G-C | c.5861C>G | p.Ser1954* | Nonsense | 44/50 | - | 1 |
9-107553274-TT-TG | c.5855delinsC | p.Lys1952Thr | Missense | 44/50 | - | 3 |
9-107553281-G-A | c.5849C>T | p.Ala1950Val | Missense | 44/50 | - | 1 |
9-107553287-T-C | c.5843A>G | p.Asn1948Ser | Missense | 44/50 | - | 1 |
9-107554069-C-T | c.5820+148G>A | - | IntronicSNV | - | 43/49 | 1 |
9-107554263-C-T | c.5774G>A | p.Arg1925Gln | Missense | 43/50 | - | 1 |
9-107555483-G-GC | c.5604_5605insG | p.Leu1869Alafs*22 | Frameshift | 41/50 | - | 1 |
9-107555512-TT-T | c.5577del | p.Val1861Trpfs*9 | Frameshift | 41/50 | - | 1 |
9-107555536-C-T | c.5552G>A | p.Arg1851Gln | Missense | 41/50 | - | 1 |
9-107555537-G-A | c.5551C>T | p.Arg1851* | Nonsense | 41/50 | - | 1 |
9-107555711-C-A | c.5507-130G>T | - | IntronicSNV | - | 40/49 | 2 |
9-107555711-C-G | c.5507-130G>C | - | IntronicSNV | - | 40/49 | 2 |
9-107555711-C-T | c.5507-130G>A | - | IntronicSNV | - | 40/49 | 2 |
9-107556697-T-A | c.5477A>T | p.Gln1826Leu | Missense | 40/50 | - | 1 |
9-107556725-G-A | c.5449C>T | p.Arg1817* | Nonsense | 40/50 | - | 2 |
9-107556733-C-G | c.5441G>C | p.Cys1814Ser | Missense | 40/50 | - | 1 |
9-107556734-A-T | c.5440T>A | p.Cys1814Ser | Missense | 40/50 | - | 1 |
9-107556776-T-G | c.5398A>C | p.Asn1800His | Missense | 40/50 | - | 17 |
9-107558340-G-A | c.5376C>T | p.Thr1792Thr | Synonymous | 39/50 | - | 1 |
9-107558417-A-C | c.5299T>G | p.Tyr1767Asp | Missense | 39/50 | - | 1 |
9-107558439-C-CC | c.5277dup | p.Phe1760Valfs*21 | Frameshift | 39/50 | - | 1 |
9-107558635-G-C | c.5192C>G | p.Ser1731Cys | Missense | 38/50 | - | 2 |
9-107559059-G-A | c.5122-354C>T | - | IntronicSNV | - | 37/49 | 1 |
9-107559479-T-A | c.5122-774A>T | - | IntronicSNV | - | 37/49 | 1 |
9-107559479-T-C | c.5122-774A>G | - | IntronicSNV | - | 37/49 | 1 |
9-107560726-C-A | c.5097G>T | p.Trp1699Cys | Missense | 37/50 | - | 3 |
9-107560729-G-T | c.5094C>A | p.Tyr1698* | Nonsense | 37/50 | - | 1 |
9-107560784-C-T | c.5039G>A | p.Arg1680Gln | Missense | 37/50 | - | 1 |
9-107560785-G-A | c.5038C>T | p.Arg1680Trp | Missense | 37/50 | - | 1 |
9-107560821-C-T | c.5002G>A | p.Val1668Ile | Missense | 37/50 | - | 2 |
9-107560863-TCCACT-T | c.4957_4961del | p.Val1653Cysfs*48 | Frameshift | 37/50 | - | 1 |
9-107562100-A-G | c.4943T>C | p.Leu1648Pro | Missense | 36/50 | - | 1 |
9-107562199-C-G | c.4844G>C | p.Arg1615Pro | Missense | 36/50 | - | 1 |
9-107562244-T-C | c.4799A>G | p.His1600Arg | Missense | 36/50 | - | 1 |
9-107562803-T-C | c.4761A>G | p.Lys1587Lys | Synonymous | 35/50 | - | 1 |
9-107562804-T-C | c.4760A>G | p.Lys1587Arg | Missense | 35/50 | - | 32 |
9-107562841-T-A | c.4723A>T | p.Asn1575Tyr | Missense | 35/50 | - | 1 |
9-107563437-G-A | c.4699-572C>T | - | IntronicSNV | - | 34/49 | 1 |
9-107563437-G-T | c.4699-572C>A | - | IntronicSNV | - | 34/49 | 1 |
9-107564077-G-A | c.4698+258C>T | - | IntronicSNV | - | 34/49 | 1 |
9-107564077-G-T | c.4698+258C>A | - | IntronicSNV | - | 34/49 | 1 |
9-107564337-TTGGCCAGCTTTAGGTGTTTCTTCATTTGTTTGATGGCATCATTAACTTCTTGACTCGGA-T | c.4638_4696del | p.Pro1547Glyfs*23 | InFrameDeletion | 34/50 | - | 1 |
9-107564369-A-G | c.4664T>C | p.Ile1555Thr | Missense | 34/50 | - | 1 |
9-107564438-T-C | c.4595A>G | p.Tyr1532Cys | Missense | 34/50 | - | 2 |
9-107564466-C-G | c.4593-26G>C | - | IntronicSNV | - | 33/49 | 3 |
9-107566916-A-C | c.4550T>G | p.Ile1517Arg | Missense | 32/50 | - | 1 |
9-107566931-G-A | c.4535C>T | p.Thr1512Met | Missense | 32/50 | - | 3 |
9-107566948-C-T | c.4518G>A | p.Ser1506Ser | Synonymous | 32/50 | - | 1 |
9-107566949-G-A | c.4517C>T | p.Ser1506Leu | Missense | 32/50 | - | 3 |
9-107566974-G-A | c.4492C>T | p.Gln1498* | Nonsense | 32/50 | - | 1 |
9-107567002-C-G | c.4465-1G>C | - | IntronicSNV | - | 31/49 | 1 |
9-107567035-T-C | c.4465-34A>G | - | IntronicSNV | - | 31/49 | 1 |
9-107568523-TTGTGGAGGAGGCAGCCCCCCTGCCCCTGGGGGACACACAGGCAGCATCTTCTTGATTTT-T | c.4406_4464del | p.Ile1470Lysfs*40 | SpliceDonorDeletion | 31/50 | - | 1 |
9-107568536-AG-A | c.4450del | p.Leu1484Cysfs*17 | Frameshift | 31/50 | - | 1 |
9-107568556-C-A | c.4430G>T | p.Cys1477Phe | Missense | 31/50 | - | 1 |
9-107568556-C-G | c.4430G>C | p.Cys1477Ser | Missense | 31/50 | - | 1 |
9-107568557-A-G | c.4429T>C | p.Cys1477Arg | Missense | 31/50 | - | 16 |
9-107568557-A-T | c.4429T>A | p.Cys1477Ser | Missense | 31/50 | - | 1 |
9-107568592-C-G | c.4394G>C | p.Cys1465Ser | Missense | 31/50 | - | 1 |
9-107568593-A-T | c.4393T>A | p.Cys1465Ser | Missense | 31/50 | - | 1 |
9-107568598-C-G | c.4388G>C | p.Cys1463Ser | Missense | 31/50 | - | 1 |
9-107568599-A-T | c.4387T>A | p.Cys1463Ser | Missense | 31/50 | - | 1 |
9-107568619-CA-C | c.4367del | p.Met1456Serfs*45 | Frameshift | 31/50 | - | 1 |
9-107568700-C-G | c.4286G>C | p.Cys1429Ser | Missense | 31/50 | - | 1 |
9-107568701-A-T | c.4285T>A | p.Cys1429Ser | Missense | 31/50 | - | 1 |
9-107568705-C-T | c.4281G>A | p.Thr1427Thr | Synonymous | 31/50 | - | 4 |
9-107569337-T-C | c.4275-626A>G | - | IntronicSNV | - | 30/49 | 1 |
9-107571241-C-T | c.4274+506G>A | - | IntronicSNV | - | 30/49 | 1 |
9-107571768-C-T | c.4253G>A | p.Cys1418Tyr | Missense | 30/50 | - | 1 |
9-107571768-C-G | c.4253G>C | p.Cys1418Ser | Missense | 30/50 | - | 1 |
9-107571769-A-T | c.4252T>A | p.Cys1418Ser | Missense | 30/50 | - | 1 |
9-107571786-G-C | c.4235C>G | p.Pro1412Arg | Missense | 30/50 | - | 1 |
9-107571802-C-T | c.4219G>A | p.Ala1407Thr | Missense | 30/50 | - | 1 |
9-107571856-A-C | c.4176-11T>G | - | IntronicSNV | - | 29/49 | 2 |
9-107573080-C-A | c.4175+1G>T | - | IntronicSNV | - | 29/49 | 1 |
9-107574868-C-T | c.4037G>A | p.Gly1346Glu | Missense | 28/50 | - | 1 |
9-107574943-C-G | c.3962G>C | p.Gly1321Ala | Missense | 28/50 | - | 1 |
9-107576412-AGA-GAG | c.3886_3888delinsCTC | p.Ser1296Leu | Missense | 27/50 | - | 1 |
9-107576414-A-C | c.3886T>G | p.Ser1296Ala | Missense | 27/50 | - | 1 |
9-107576435-C-T | c.3865G>A | p.Asp1289Asn | Missense | 27/50 | - | 2 |
9-107578048-C-G | c.3738+376G>C | - | IntronicSNV | - | 25/49 | 1 |
9-107578048-C-T | c.3738+376G>A | - | IntronicSNV | - | 25/49 | 1 |
9-107578478-C-T | c.3684G>A | p.Arg1228Arg | Synonymous | 25/50 | - | 1 |
9-107578515-C-A | c.3647G>T | p.Gly1216Val | Missense | 25/50 | - | 5 |
9-107578565-G-GG | c.3597dup | p.Ile1200Hisfs*4 | Frameshift | 25/50 | - | 1 |
9-107578620-G-A | c.3542C>T | p.Ser1181Phe | Missense | 25/50 | - | 2 |
9-107579612-C-G | c.3535+1G>C | - | IntronicSNV | - | 24/49 | 1 |
9-107579632-C-G | c.3516G>C | p.Glu1172Asp | Missense | 24/50 | - | 8 |
9-107579632-C-T | c.3516G>A | p.Glu1172Glu | Synonymous | 24/50 | - | 1 |
9-107579634-C-T | c.3514G>A | p.Glu1172Lys | Missense | 24/50 | - | 1 |
9-107580842-T-C | c.3462+102A>G | - | IntronicSNV | - | 23/49 | 1 |
9-107581042-G-A | c.3364C>T | p.Leu1122Leu | Synonymous | 23/50 | - | 1 |
9-107581111-C-A | c.3295G>T | p.Asp1099Tyr | Missense | 23/50 | - | 4 |
9-107581134-A-G | c.3272T>C | p.Met1091Thr | Missense | 23/50 | - | 5 |
9-107581135-T-A | c.3271A>T | p.Met1091Leu | Missense | 23/50 | - | 1 |
9-107581135-T-C | c.3271A>G | p.Met1091Val | Missense | 23/50 | - | 1 |
9-107581135-T-G | c.3271A>C | p.Met1091Leu | Missense | 23/50 | - | 1 |
9-107581307-C-T | c.3242-143G>A | - | IntronicSNV | - | 22/49 | 1 |
9-107581749-A-C | c.3241+118T>G | - | IntronicSNV | - | 22/49 | 2 |
9-107581749-A-T | c.3241+118T>A | - | IntronicSNV | - | 22/49 | 2 |
9-107581905-C-T | c.3203G>A | p.Arg1068His | Missense | 22/50 | - | 2 |
9-107581906-G-A | c.3202C>T | p.Arg1068Cys | Missense | 22/50 | - | 1 |
9-107581915-G-A | c.3193C>T | p.Pro1065Ser | Missense | 22/50 | - | 5 |
9-107581941-A-G | c.3167T>C | p.Leu1056Pro | Missense | 22/50 | - | 1 |
9-107581971-G-T | c.3137C>A | p.Ala1046Asp | Missense | 22/50 | - | 5 |
9-107581987-G-C | c.3121C>G | p.Leu1041Val | Missense | 22/50 | - | 2 |
9-107581996-G-A | c.3112C>T | p.Gln1038* | Nonsense | 22/50 | - | 2 |
9-107582213-A-G | c.3098T>C | p.Leu1033Pro | Missense | 21/50 | - | 1 |
9-107582234-A-G | c.3077T>C | p.Leu1026Pro | Missense | 21/50 | - | 1 |
9-107582258-T-C | c.3053A>G | p.Asp1018Gly | Missense | 21/50 | - | 1 |
9-107582298-C-A | c.3013G>T | p.Glu1005* | Nonsense | 21/50 | - | 3 |
9-107583681-GG-G | c.2938del | p.Gln980Serfs*9 | Frameshift | 20/50 | - | 1 |
9-107584351-T-C | c.2828+426A>G | - | IntronicSNV | - | 19/49 | 3 |
9-107584786-G-A | c.2819C>T | p.Thr940Met | Missense | 19/50 | - | 1 |
9-107584789-T-A | c.2816A>T | p.Lys939Met | Missense | 19/50 | - | 9 |
9-107584795-G-A | c.2810C>T | p.Ala937Val | Missense | 19/50 | - | 5 |
9-107584801-T-C | c.2804A>G | p.Asn935Ser | Missense | 19/50 | - | 10 |
9-107584801-T-G | c.2804A>C | p.Asn935Thr | Missense | 19/50 | - | 1 |
9-107584816-G-A | c.2789C>T | p.Ser930Phe | Missense | 19/50 | - | 1 |
9-107584819-G-A | c.2786C>T | p.Thr929Ile | Missense | 19/50 | - | 2 |
9-107584856-C-A | c.2749G>T | p.Asp917Tyr | Missense | 19/50 | - | 1 |
9-107584880-G-A | c.2725C>T | p.Arg909* | Nonsense | 19/50 | - | 2 |
9-107585016-G-C | c.2657-68C>G | - | IntronicSNV | - | 18/49 | 1 |
9-107586752-A-C | c.2650T>G | p.Ser884Ala | Missense | 18/50 | - | 1 |
9-107586753-T-C | c.2649A>G | p.Ile883Met | Missense | 18/50 | - | 24 |
9-107586778-T-C | c.2624A>G | p.His875Arg | Missense | 18/50 | - | 1 |
9-107586835-CC-C | c.2568del | p.Trp856Cysfs*40 | Frameshift | 18/50 | - | 1 |
9-107586851-C-T | c.2551G>A | p.Gly851Arg | Missense | 18/50 | - | 2 |
9-107587966-G-A | c.2540C>T | p.Pro847Leu | Missense | 17/50 | - | 1 |
9-107588005-A-C | c.2501T>G | p.Leu834Arg | Missense | 17/50 | - | 1 |
9-107588015-C-T | c.2491G>A | p.Asp831Asn | Missense | 17/50 | - | 1 |
9-107588033-C-G | c.2473G>C | p.Val825Leu | Missense | 17/50 | - | 1 |
9-107588033-C-T | c.2473G>A | p.Val825Ile | Missense | 17/50 | - | 23 |
9-107588035-G-A | c.2471C>T | p.Ser824Leu | Missense | 17/50 | - | 1 |
9-107588087-C-T | c.2419G>A | p.Asp807Asn | Missense | 17/50 | - | 1 |
9-107588134-C-G | c.2372G>C | p.Cys791Ser | Missense | 17/50 | - | 1 |
9-107588135-A-T | c.2371T>A | p.Cys791Ser | Missense | 17/50 | - | 1 |
9-107588172-GTG-G | c.2338-3_2338-2del | - | IntronicDeletion | - | 16/49 | 1 |
9-107588328-G-A | c.2338-160C>T | - | IntronicSNV | - | 16/49 | 2 |
9-107588777-C-T | c.2337+452G>A | - | IntronicSNV | - | 16/49 | 1 |
9-107589134-A-T | c.2337+95T>A | - | IntronicSNV | - | 16/49 | 6 |
9-107589238-C-G | c.2328G>C | p.Lys776Asn | Missense | 16/50 | - | 7 |
9-107589246-T-G | c.2320A>C | p.Thr774Pro | Missense | 16/50 | - | 2 |
9-107589255-C-G | c.2311G>C | p.Val771Leu | Missense | 16/50 | - | 7 |
9-107589255-C-T | c.2311G>A | p.Val771Met | Missense | 16/50 | - | 21 |
9-107591116-T-C | c.2115+81A>G | - | IntronicSNV | - | 15/49 | 6 |
9-107591238-G-A | c.2074C>T | p.Pro692Ser | Missense | 15/50 | - | 2 |
9-107591269-G-T | c.2043C>A | p.Leu681Leu | Synonymous | 15/50 | - | 1 |
9-107591272-G-T | c.2040C>A | p.Ile680Ile | Synonymous | 15/50 | - | 2 |
9-107591283-C-CA | c.2028_2029insT | p.Asp677* | Nonsense | 15/50 | - | 1 |
9-107591337-T-C | c.1975A>G | p.Ile659Val | Missense | 15/50 | - | 1 |
9-107591337-T-G | c.1975A>C | p.Ile659Leu | Missense | 15/50 | - | 1 |
9-107591386-G-C | c.1926C>G | p.Leu642Leu | Synonymous | 15/50 | - | 1 |
9-107591394-T-A | c.1918A>T | p.Met640Leu | Missense | 15/50 | - | 1 |
9-107591394-T-G | c.1918A>C | p.Met640Leu | Missense | 15/50 | - | 1 |
9-107591399-C-T | c.1913G>A | p.Arg638Gln | Missense | 15/50 | - | 1 |
9-107593182-A-C | c.1892+24T>G | - | IntronicSNV | - | 14/49 | 3 |
9-107593182-A-T | c.1892+24T>A | - | IntronicSNV | - | 14/49 | 3 |
9-107593221-C-G | c.1877G>C | p.Cys626Ser | Missense | 14/50 | - | 1 |
9-107593222-A-T | c.1876T>A | p.Cys626Ser | Missense | 14/50 | - | 1 |
9-107593236-T-C | c.1862A>G | p.Gln621Arg | Missense | 14/50 | - | 1 |
9-107593251-C-A | c.1847G>T | p.Gly616Val | Missense | 14/50 | - | 1 |
9-107593299-A-T | c.1799T>A | p.Val600Glu | Missense | 14/50 | - | 2 |
9-107593308-T-A | c.1790A>T | p.Gln597Leu | Missense | 14/50 | - | 1 |
9-107593308-T-C | c.1790A>G | p.Gln597Arg | Missense | 14/50 | - | 12 |
9-107593318-C-T | c.1780G>A | p.Ala594Thr | Missense | 14/50 | - | 1 |
9-107593319-G-C | c.1779C>G | p.Phe593Leu | Missense | 14/50 | - | 1 |
9-107593319-G-T | c.1779C>A | p.Phe593Leu | Missense | 14/50 | - | 1 |
9-107593321-A-G | c.1777T>C | p.Phe593Leu | Missense | 14/50 | - | 1 |
9-107593324-C-A | c.1774G>T | p.Gly592Cys | Missense | 14/50 | - | 1 |
9-107593328-C-G | c.1770G>C | p.Trp590Cys | Missense | 14/50 | - | 2 |
9-107593329-C-A | c.1769G>T | p.Trp590Leu | Missense | 14/50 | - | 4 |
9-107593329-C-G | c.1769G>C | p.Trp590Ser | Missense | 14/50 | - | 20 |
9-107593339-G-A | c.1759C>T | p.Arg587Trp | Missense | 14/50 | - | 8 |
9-107593340-C-CC | c.1758dup | p.Arg587Alafs*43 | Frameshift | 14/50 | - | 1 |
9-107593343-G-T | c.1755C>A | p.Asp585Glu | Missense | 14/50 | - | 1 |
9-107593362-C-T | c.1736G>A | p.Arg579Gln | Missense | 14/50 | - | 1 |
9-107593379-G-C | c.1719C>G | p.Tyr573* | Nonsense | 14/50 | - | 1 |
9-107593379-G-T | c.1719C>A | p.Tyr573* | Nonsense | 14/50 | - | 1 |
9-107593919-T-A | c.1699A>T | p.Asn567Tyr | Missense | 13/50 | - | 1 |
9-107594025-C-A | c.1593G>T | p.Lys531Asn | Missense | 13/50 | - | 2 |
9-107594025-C-G | c.1593G>C | p.Lys531Asn | Missense | 13/50 | - | 2 |
9-107594089-A-C | c.1529T>G | p.Leu510Arg | Missense | 13/50 | - | 1 |
9-107594107-C-G | c.1511G>C | p.Cys504Ser | Missense | 13/50 | - | 1 |
9-107594108-A-T | c.1510T>A | p.Cys504Ser | Missense | 13/50 | - | 1 |
9-107594109-C-A | c.1510-1G>T | - | IntronicSNV | - | 12/49 | 1 |
9-107594364-A-G | c.1510-256T>C | - | IntronicSNV | - | 12/49 | 3 |
9-107594515-A-G | c.1509+340T>C | - | IntronicSNV | - | 12/49 | 1 |
9-107594909-TCT-CAT | c.1454_1455delinsTG | p.Arg485Met | Missense | 12/50 | - | 1 |
9-107594910-C-T | c.1454G>A | p.Arg485Lys | Missense | 12/50 | - | 1 |
9-107594917-T-G | c.1447A>C | p.Thr483Pro | Missense | 12/50 | - | 1 |
9-107594933-ACT-TGA | c.1429_1431delinsTCA | p.Ser477Ser | Nonsense | 12/50 | - | 1 |
9-107598740-C-T | c.1311+521G>A | - | IntronicSNV | - | 11/49 | 7 |
9-107598884-T-G | c.1311+377A>C | - | IntronicSNV | - | 11/49 | 1 |
9-107599270-GTC-TGG | c.1300_1302delinsCCA | p.Asp434Pro | Missense | 11/50 | - | 1 |
9-107599271-TC-AG | c.1300_1301delinsCT | p.Asp434Leu | Missense | 11/50 | - | 1 |
9-107599271-T-G | c.1301A>C | p.Asp434Ala | Missense | 11/50 | - | 2 |
9-107599304-A-G | c.1268T>C | p.Ile423Thr | Missense | 11/50 | - | 1 |
9-107599350-C-T | c.1222G>A | p.Val408Met | Missense | 11/50 | - | 2 |
9-107599376-A-G | c.1196T>C | p.Val399Ala | Missense | 11/50 | - | 3 |
9-107599404-C-T | c.1195-27G>A | - | IntronicSNV | - | 10/49 | 1 |
9-107599438-G-GC | c.1195-62_1195-61insG | - | IntronicInsertion | - | 10/49 | 1 |
9-107599735-G-C | c.1168C>G | p.Pro390Ala | Missense | 10/50 | - | 1 |
9-107599812-G-C | c.1091C>G | p.Ser364Cys | Missense | 10/50 | - | 1 |
9-107599839-C-G | c.1064G>C | p.Cys355Ser | Missense | 10/50 | - | 1 |
9-107599840-A-T | c.1063T>A | p.Cys355Ser | Missense | 10/50 | - | 1 |
9-107600168-A-G | c.1055-320T>C | - | IntronicSNV | - | 9/49 | 5 |
9-107600193-A-G | c.1055-345T>C | - | IntronicSNV | - | 9/49 | 1 |
9-107600251-T-C | c.1055-403A>G | - | IntronicSNV | - | 9/49 | 1 |
9-107601541-G-A | c.1054+1019C>T | - | IntronicSNV | - | 9/49 | 6 |
9-107601801-C-A | c.1054+759G>T | - | IntronicSNV | - | 9/49 | 1 |
9-107601801-C-T | c.1054+759G>A | - | IntronicSNV | - | 9/49 | 1 |
9-107602613-AA-GC | c.1000_1001delinsGC | p.Phe334Ala | Missense | 9/50 | - | 2 |
9-107602666-C-T | c.948G>A | p.Gly316Gly | Synonymous | 9/50 | - | 1 |
9-107602678-G-A | c.936C>T | p.Pro312Pro | Synonymous | 9/50 | - | 7 |
9-107602678-G-T | c.936C>A | p.Pro312Pro | Synonymous | 9/50 | - | 6 |
9-107602688-C-G | c.926G>C | p.Cys309Ser | Missense | 9/50 | - | 1 |
9-107602689-A-T | c.925T>A | p.Cys309Ser | Missense | 9/50 | - | 1 |
9-107602698-G-A | c.916C>T | p.Arg306Cys | Missense | 9/50 | - | 1 |
9-107602700-G-C | c.914C>G | p.Ser305Cys | Missense | 9/50 | - | 1 |
9-107602704-C-A | c.910G>T | p.Val304Leu | Missense | 9/50 | - | 1 |
9-107602799-CAGCTGGCGTCAGGGATGGGGACAGAAAGGAGGGTAGGGGAAGGGAGAAAAGGGCAGTGC-C | c.814-56_816del | - | Multi:SpliceDonorDeletion,SpliceAcceptorDeletion | 9/50 | 8/49 | 1 |
9-107604104-A-G | c.814-1304T>C | - | IntronicSNV | - | 8/49 | 4 |
9-107604197-G-T | c.814-1397C>A | - | IntronicSNV | - | 8/49 | 3 |
9-107604507-C-T | c.814-1707G>A | - | IntronicSNV | - | 8/49 | 1 |
9-107604722-A-C | c.814-1922T>G | - | IntronicSNV | - | 8/49 | 1 |
9-107605638-G-T | c.813+2120C>A | - | IntronicSNV | - | 8/49 | 1 |
9-107606009-G-C | c.813+1749C>G | - | IntronicSNV | - | 8/49 | 1 |
9-107606383-C-T | c.813+1375G>A | - | IntronicSNV | - | 8/49 | 1 |
9-107606447-G-A | c.813+1311C>T | - | IntronicSNV | - | 8/49 | 1 |
9-107606447-G-C | c.813+1311C>G | - | IntronicSNV | - | 8/49 | 1 |
9-107606514-G-A | c.813+1244C>T | - | IntronicSNV | - | 8/49 | 1 |
9-107606514-G-C | c.813+1244C>G | - | IntronicSNV | - | 8/49 | 1 |
9-107606514-G-T | c.813+1244C>A | - | IntronicSNV | - | 8/49 | 1 |
9-107607760-C-A | c.811G>T | p.Glu271* | Nonsense | 8/50 | - | 1 |
9-107607769-G-A | c.802C>T | p.Leu268Leu | Synonymous | 8/50 | - | 1 |
9-107607789-AA-GC | c.781_782delinsGC | p.Leu261Ala | Missense | 8/50 | - | 2 |
9-107607805-C-T | c.766G>A | p.Glu256Lys | Missense | 8/50 | - | 1 |
9-107611337-G-T | c.721-3487C>A | - | IntronicSNV | - | 7/49 | 1 |
9-107611827-T-C | c.721-3977A>G | - | IntronicSNV | - | 7/49 | 1 |
9-107613849-T-A | c.721-5999A>T | - | IntronicSNV | - | 7/49 | 1 |
9-107617337-C-T | c.720+3466G>A | - | IntronicSNV | - | 7/49 | 1 |
9-107617433-C-T | c.720+3370G>A | - | IntronicSNV | - | 7/49 | 1 |
9-107618681-T-A | c.720+2122A>T | - | IntronicSNV | - | 7/49 | 2 |
9-107618681-T-C | c.720+2122A>G | - | IntronicSNV | - | 7/49 | 2 |
9-107619063-G-A | c.720+1740C>T | - | IntronicSNV | - | 7/49 | 2 |
9-107620332-G-A | c.720+471C>T | - | IntronicSNV | - | 7/49 | 1 |
9-107620797-A-G | c.720+6T>C | - | IntronicSNV | - | 7/49 | 1 |
9-107620803-CAG-TGT | c.718_720delinsACA | p.Leu240Thr | Missense | 7/50 | - | 1 |
9-107620831-G-C | c.692C>G | p.Ser231Cys | Missense | 7/50 | - | 2 |
9-107620833-A-C | c.690T>G | p.Arg230Arg | Synonymous | 7/50 | - | 2 |
9-107620833-A-G | c.690T>C | p.Arg230Arg | Synonymous | 7/50 | - | 2 |
9-107620833-A-T | c.690T>A | p.Arg230Arg | Synonymous | 7/50 | - | 2 |
9-107620835-G-A | c.688C>T | p.Arg230Cys | Missense | 7/50 | - | 44 |
9-107620852-G-A | c.671C>T | p.Ala224Val | Missense | 7/50 | - | 1 |
9-107620858-AG-AA | c.664delinsT | p.Leu222Leu | Missense | 7/50 | - | 1 |
9-107620867-C-T | c.656G>A | p.Arg219Lys | Missense | 7/50 | - | 82 |
9-107620879-C-G | c.644G>C | p.Cys215Ser | Missense | 7/50 | - | 1 |
9-107620880-A-T | c.643T>A | p.Cys215Ser | Missense | 7/50 | - | 1 |
9-107620893-T-A | c.630A>T | p.Glu210Asp | Missense | 7/50 | - | 1 |
9-107620893-T-G | c.630A>C | p.Glu210Asp | Missense | 7/50 | - | 1 |
9-107620931-A-C | c.592T>G | p.Ser198Ala | Missense | 7/50 | - | 1 |
9-107620939-C-G | c.584G>C | p.Cys195Ser | Missense | 7/50 | - | 1 |
9-107620940-A-T | c.583T>A | p.Cys195Ser | Missense | 7/50 | - | 1 |
9-107623626-C-T | c.543+334G>A | - | IntronicSNV | - | 6/49 | 1 |
9-107623970-A-G | c.533T>C | p.Ile178Thr | Missense | 6/50 | - | 1 |
9-107623980-C-G | c.523G>C | p.Ala175Pro | Missense | 6/50 | - | 1 |
9-107623992-T-A | c.511A>T | p.Lys171* | Nonsense | 6/50 | - | 1 |
9-107624004-A-C | c.499T>G | p.Ser167Ala | Missense | 6/50 | - | 1 |
9-107624009-G-C | c.494C>G | p.Pro165Arg | Missense | 6/50 | - | 2 |
9-107624010-G-C | c.493C>G | p.Pro165Ala | Missense | 6/50 | - | 1 |
9-107624029-C-A | c.474G>T | p.Leu158Leu | Synonymous | 6/50 | - | 2 |
9-107624029-C-G | c.474G>C | p.Leu158Leu | Synonymous | 6/50 | - | 9 |
9-107624029-C-T | c.474G>A | p.Leu158Leu | Synonymous | 6/50 | - | 9 |
9-107624031-G-A | c.472C>T | p.Leu158Leu | Synonymous | 6/50 | - | 2 |
9-107624072-A-C | c.431T>G | p.Leu144Arg | Missense | 6/50 | - | 2 |
9-107624075-TT-GC | c.427_428delinsGC | p.Lys143Ala | Missense | 6/50 | - | 1 |
9-107624242-A-G | c.422-161T>C | - | IntronicSNV | - | 5/49 | 5 |
9-107626189-G-A | c.422-2108C>T | - | IntronicSNV | - | 5/49 | 1 |
9-107626189-G-T | c.422-2108C>A | - | IntronicSNV | - | 5/49 | 1 |
9-107626389-C-T | c.422-2308G>A | - | IntronicSNV | - | 5/49 | 1 |
9-107629104-T-C | c.422-5023A>G | - | IntronicSNV | - | 5/49 | 2 |
9-107633725-A-C | c.422-9644T>G | - | IntronicSNV | - | 5/49 | 5 |
9-107635869-C-G | c.421+9451G>C | - | IntronicSNV | - | 5/49 | 6 |
9-107635869-C-T | c.421+9451G>A | - | IntronicSNV | - | 5/49 | 6 |
9-107639414-G-A | c.421+5906C>T | - | IntronicSNV | - | 5/49 | 5 |
9-107642287-C-G | c.421+3033G>C | - | IntronicSNV | - | 5/49 | 5 |
9-107642287-C-T | c.421+3033G>A | - | IntronicSNV | - | 5/49 | 5 |
9-107643810-T-A | c.421+1510A>T | - | IntronicSNV | - | 5/49 | 1 |
9-107643810-T-C | c.421+1510A>G | - | IntronicSNV | - | 5/49 | 1 |
9-107644287-G-A | c.421+1033C>T | - | IntronicSNV | - | 5/49 | 1 |
9-107644830-C-T | c.421+490G>A | - | IntronicSNV | - | 5/49 | 2 |
9-107645080-C-T | c.421+240G>A | - | IntronicSNV | - | 5/49 | 5 |
9-107645345-T-TT | c.396dup | p.Gln133Thrfs*20 | Frameshift | 5/50 | - | 1 |
9-107645351-TCT-TGT | c.389delinsC | p.Arg130Thr | Missense | 5/50 | - | 1 |
9-107645352-C-T | c.389G>A | p.Arg130Lys | Missense | 5/50 | - | 1 |
9-107645381-G-A | c.360C>T | p.Thr120Thr | Synonymous | 5/50 | - | 1 |
9-107645388-TT-GC | c.352_353delinsGC | p.Lys118Ala | Missense | 5/50 | - | 1 |
9-107645477-G-C | c.303-39C>G | - | IntronicSNV | - | 4/49 | 3 |
9-107645477-G-T | c.303-39C>A | - | IntronicSNV | - | 4/49 | 3 |
9-107646260-T-C | c.302+448A>G | - | IntronicSNV | - | 4/49 | 1 |
9-107646289-C-G | c.302+419G>C | - | IntronicSNV | - | 4/49 | 1 |
9-107646289-C-T | c.302+419G>A | - | IntronicSNV | - | 4/49 | 1 |
9-107646710-TGGATTTGTTAAAGTTTCCAACAACTCCGGGAGCCTCCCCAGGAGTCGGGTAACGGAAAC-T | c.242_300del | p.Cys81Tyrfs*52 | SpliceDonorDeletion | 4/50 | - | 1 |
9-107646711-G-C | c.299C>G | p.Ser100Cys | Missense | 4/50 | - | 1 |
9-107646712-A-C | c.298T>G | p.Ser100Ala | Missense | 4/50 | - | 1 |
9-107646732-AC-TG | c.277_278delinsCA | p.Val93His | Missense | 4/50 | - | 1 |
9-107646756-G-A | c.254C>T | p.Pro85Leu | Missense | 4/50 | - | 2 |
9-107646768-C-G | c.242G>C | p.Cys81Ser | Missense | 4/50 | - | 1 |
9-107646769-A-T | c.241T>A | p.Cys81Ser | Missense | 4/50 | - | 1 |
9-107646786-CA-GC | c.223_224delinsGC | p.Cys75Ala | Missense | 4/50 | - | 1 |
9-107646786-C-G | c.224G>C | p.Cys75Ser | Missense | 4/50 | - | 1 |
9-107646787-A-C | c.223T>G | p.Cys75Gly | Missense | 4/50 | - | 1 |
9-107646787-A-T | c.223T>A | p.Cys75Ser | Missense | 4/50 | - | 1 |
9-107646803-C-T | c.207G>A | p.Trp69* | Nonsense | 4/50 | - | 1 |
9-107646816-C-G | c.194G>C | p.Gly65Ala | Missense | 4/50 | - | 1 |
9-107646833-TTT-TGT | c.176delinsC | p.Lys59Thr | Missense | 4/50 | - | 1 |
9-107646849-C-T | c.161G>A | p.Cys54Tyr | Missense | 4/50 | - | 3 |
9-107647019-C-T | c.161-170G>A | - | IntronicSNV | - | 3/49 | 5 |
9-107647077-G-A | c.161-228C>T | - | IntronicSNV | - | 3/49 | 2 |
9-107647077-G-C | c.161-228C>G | - | IntronicSNV | - | 3/49 | 2 |
9-107647220-C-T | c.161-371G>A | - | IntronicSNV | - | 3/49 | 23 |
9-107647655-G-A | c.161-806C>T | - | IntronicSNV | - | 3/49 | 38 |
9-107647655-G-T | c.161-806C>A | - | IntronicSNV | - | 3/49 | 38 |
9-107648519-T-C | c.161-1670A>G | - | IntronicSNV | - | 3/49 | 1 |
9-107648652-C-T | c.161-1803G>A | - | IntronicSNV | - | 3/49 | 4 |
9-107650820-C-T | c.160+563G>A | - | IntronicSNV | - | 3/49 | 1 |
9-107651174-T-C | c.160+209A>G | - | IntronicSNV | - | 3/49 | 1 |
9-107651212-T-C | c.160+171A>G | - | IntronicSNV | - | 3/49 | 1 |
9-107646849-C-G | c.161G>C | p.Cys54Ser | Missense | 4/50 | - | 1 |
9-107651383-A-T | c.160T>A | p.Cys54Ser | Missense | 3/50 | - | 1 |
9-107651433-AG-GC | c.109_110delinsGC | p.Leu37Ala | Missense | 3/50 | - | 1 |
9-107651437-A-C | c.106T>G | p.Phe36Val | Missense | 3/50 | - | 1 |
9-107651445-A-G | c.98T>C | p.Leu33Pro | Missense | 3/50 | - | 2 |
9-107651471-C-A | c.72G>T | p.Gln24His | Missense | 3/50 | - | 1 |
9-107651471-C-G | c.72G>C | p.Gln24His | Missense | 3/50 | - | 1 |
9-107651945-T-C | c.67-469A>G | - | IntronicSNV | - | 2/49 | 3 |
9-107653426-G-A | c.67-1950C>T | - | IntronicSNV | - | 2/49 | 7 |
9-107655848-T-C | c.67-4372A>G | - | IntronicSNV | - | 2/49 | 1 |
9-107657070-G-A | c.67-5594C>T | - | IntronicSNV | - | 2/49 | 16 |
9-107657253-G-C | c.67-5777C>G | - | IntronicSNV | - | 2/49 | 1 |
9-107658385-G-A | c.67-6909C>T | - | IntronicSNV | - | 2/49 | 2 |
9-107658723-C-T | c.66+7172G>A | - | IntronicSNV | - | 2/49 | 1 |
9-107661561-C-A | c.66+4334G>T | - | IntronicSNV | - | 2/49 | 1 |
9-107661561-C-G | c.66+4334G>C | - | IntronicSNV | - | 2/49 | 1 |
9-107661742-A-C | c.66+4153T>G | - | IntronicSNV | - | 2/49 | 8 |
9-107662494-G-A | c.66+3401C>T | - | IntronicSNV | - | 2/49 | 7 |
9-107664301-C-T | c.66+1594G>A | - | IntronicSNV | - | 2/49 | 84 |
9-107664815-T-C | c.66+1080A>G | - | IntronicSNV | - | 2/49 | 1 |
9-107664961-A-G | c.66+934T>C | - | IntronicSNV | - | 2/49 | 2 |
9-107665739-G-A | c.66+156C>T | - | IntronicSNV | - | 2/49 | 7 |
9-107665751-C-T | c.66+144G>A | - | IntronicSNV | - | 2/49 | 1 |
9-107665906-T-A | c.55A>T | p.Arg19* | Nonsense | 2/50 | - | 1 |
9-107665929-A-G | c.32T>C | p.Leu11Pro | Missense | 2/50 | - | 1 |
9-107665978-C-A | c.-18G>T | - | 5-UTRSNV | 2/50 | - | 2 |
9-107665978-C-G | c.-18G>C | - | 5-UTRSNV | 2/50 | - | 2 |
9-107665978-C-T | c.-18G>A | - | 5-UTRSNV | 2/50 | - | 2 |
9-107666007-G-T | c.-47C>A | - | 5-UTRSNV | 2/50 | - | 1 |
9-107666037-C-CC | c.-76dup | - | 5-UTRInsertion | 2/50 | - | 1 |
9-107666239-G-A | c.-279C>T | - | IntronicSNV | 1/50 | - | 1 |
9-107666239-G-C | c.-279C>G | - | IntronicSNV | 1/50 | - | 1 |
9-107666513-T-G | c.-92-461A>C | - | IntronicSNV | - | 1/49 | 2 |
9-107668064-G-C | c.-92-2012C>G | - | IntronicSNV | - | 1/49 | 1 |
9-107668825-G-C | c.-92-2773C>G | - | IntronicSNV | - | 1/49 | 1 |
9-107669073-T-C | c.-92-3021A>G | - | IntronicSNV | - | 1/49 | 1 |
9-107669241-T-C | c.-92-3189A>G | - | IntronicSNV | - | 1/49 | 1 |
9-107671659-T-C | c.-92-5607A>G | - | IntronicSNV | - | 1/49 | 2 |
9-107672365-G-A | c.-92-6313C>T | - | IntronicSNV | - | 1/49 | 1 |
9-107675590-A-G | c.-92-9538T>C | - | IntronicSNV | - | 1/49 | 1 |
9-107677211-G-C | c.-92-11159C>G | - | IntronicSNV | - | 1/49 | 2 |
9-107677289-A-G | c.-92-11237T>C | - | IntronicSNV | - | 1/49 | 2 |
9-107678278-C-T | c.-93+11938G>A | - | intron_variant | - | 1/49 | 1 |
9-107678446-G-A | c.-93+11770C>T | - | intron_variant | - | 1/49 | 2 |
9-107678797-C-T | c.-93+11419G>A | - | intron_variant | - | 1/49 | 1 |
9-107678916-T-C | c.-93+11300A>G | - | intron_variant | - | 1/49 | 3 |
9-107679500-C-A | c.-93+10716G>T | - | intron_variant | - | 1/49 | 2 |
9-107680915-A-G | c.-93+9301T>C | - | intron_variant | - | 1/49 | 2 |
9-107682517-T-A | c.-93+7699A>T | - | intron_variant | - | 1/49 | 4 |
9-107682517-T-C | c.-93+7699A>G | - | intron_variant | - | 1/49 | 4 |
9-107683636-T-C | c.-93+6580A>G | - | intron_variant | - | 1/49 | 1 |
9-107684230-T-G | c.-93+5986A>C | - | intron_variant | - | 1/49 | 2 |
9-107684318-A-C | c.-93+5898T>G | - | intron_variant | - | 1/49 | 5 |
9-107686405-C-T | c.-93+3811G>A | - | intron_variant | - | 1/49 | 1 |
9-107687104-C-A | c.-93+3112G>T | - | intron_variant | - | 1/49 | 1 |
9-107687104-C-T | c.-93+3112G>A | - | intron_variant | - | 1/49 | 1 |
9-107687193-A-C | c.-93+3023T>G | - | intron_variant | - | 1/49 | 1 |
9-107689289-T-G | c.-93+927A>C | - | intron_variant | - | 1/49 | 1 |
9-107690057-C-A | c.-93+159G>T | - | intron_variant | - | 1/49 | 1 |
9-107690124-A-G | c.-93+92T>C | - | intron_variant | - | 1/49 | 1 |