ABCA1 ATP binding cassette subfamily A member 1

Canonical transcript: NM_005502

424 unique variant annotations were identified in 449 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
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