APOB apolipoprotein B

Canonical transcript: NM_000384

534 unique variant annotations were identified in 707 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
2-21224422-C-A c.*180G>T - 3-UTRSNV 29/29 - 1
2-21224422-C-T c.*180G>A - 3-UTRSNV 29/29 - 1
2-21224423-G-A c.*179C>T - 3-UTRSNV 29/29 - 1
2-21224725-C-T c.13569G>A p.Leu4523Leu Synonymous 29/29 - 1
2-21224806-TCT-TGG c.13486_13487delinsCC p.Arg4496Pro Missense 29/29 - 1
2-21224815-GCTG-G c.13480_13482del p.Gln4494del InFrameDeletion 29/29 - 4
2-21224842-C-T c.13452G>A p.Thr4484Thr Synonymous 29/29 - 1
2-21224843-G-A c.13451C>T p.Thr4484Met Missense 29/29 - 3
2-21224843-G-T c.13451C>A p.Thr4484Lys Missense 29/29 - 2
2-21224850-T-A c.13444A>T p.Ile4482Phe Missense 29/29 - 1
2-21224850-T-C c.13444A>G p.Ile4482Val Missense 29/29 - 1
2-21224853-C-G c.13441G>C p.Ala4481Pro Missense 29/29 - 7
2-21224853-C-T c.13441G>A p.Ala4481Thr Missense 29/29 - 15
2-21224854-C-T c.13440G>A p.Gln4480Gln Synonymous 29/29 - 1
2-21224894-G-T c.13400C>A p.Ala4467Glu Missense 29/29 - 1
2-21224907-T-C c.13387A>G p.Lys4463Glu Missense 29/29 - 1
2-21224925-C-T c.13369G>A p.Asp4457Asn Missense 29/29 - 1
2-21225002-T-TACCAT c.13292_13293insTGGTA p.Phe4432Glyfs*47 Frameshift 29/29 - 1
2-21225030-G-A c.13264C>T p.His4422Tyr Missense 29/29 - 1
2-21225106-CC-AT c.13187_13188delinsAT p.Trp4396Tyr Missense 29/29 - 2
2-21225111-C-T c.13183G>A p.Gly4395Ser Missense 29/29 - 2
2-21225119-C-T c.13175G>A p.Ser4392Asn Missense 29/29 - 1
2-21225192-G-C c.13102C>G p.Gln4368Glu Missense 29/29 - 2
2-21225244-TTTCTTT-T c.13047_13052del p.Lys4349_Glu4350del InFrameDeletion 29/29 - 1
2-21225246-TCTT-T c.13048_13050del p.Glu4350del InFrameDeletion 29/29 - 1
2-21225249-T-TAGAGTAC c.13044_13045insGTACTCT p.Lys4349Valfs*3 Frameshift 29/29 - 1
2-21225267-TAT-T c.13028_13029del p.Tyr4343Cysfs*3 Frameshift 29/29 - 1
2-21225271-GG-G c.13025del p.Pro4342Hisfs*7 Frameshift 29/29 - 1
2-21225281-C-A c.13013G>T p.Ser4338Ile Missense 29/29 - 2
2-21225281-C-T c.13013G>A p.Ser4338Asn Missense 29/29 - 108
2-21225354-T-C c.12940A>G p.Ile4314Val Missense 29/29 - 4
2-21225435-T-C c.12859A>G p.Ile4287Val Missense 29/29 - 1
2-21225485-C-G c.12809G>C p.Arg4270Thr Missense 29/29 - 21
2-21225485-C-T c.12809G>A p.Arg4270Lys Missense 29/29 - 15
2-21225491-A-G c.12803T>C p.Met4268Thr Missense 29/29 - 2
2-21225500-A-G c.12794T>C p.Val4265Ala Missense 29/29 - 5
2-21225528-C-T c.12766G>A p.Glu4256Lys Missense 29/29 - 1
2-21225555-G-A c.12739C>T p.Gln4247* Nonsense 29/29 - 1
2-21225595-C-T c.12699G>A p.Ser4233Ser Synonymous 29/29 - 1
2-21225597-A-T c.12697T>A p.Ser4233Thr Missense 29/29 - 3
2-21225615-C-A c.12679G>T p.Val4227Leu Missense 29/29 - 1
2-21225615-C-G c.12679G>C p.Val4227Leu Missense 29/29 - 1
2-21225625-C-T c.12669G>A p.Glu4223Glu Synonymous 29/29 - 1
2-21225713-A-G c.12581T>C p.Ile4194Thr Missense 29/29 - 1
2-21225753-C-A c.12541G>T p.Glu4181* Nonsense 29/29 - 51
2-21225753-C-T c.12541G>A p.Glu4181Lys Missense 29/29 - 67
2-21225832-T-TACCAT c.12462_12463insTGGTA p.Leu4155Trpfs*4 Frameshift 29/29 - 1
2-21225834-C-T c.12460G>A p.Glu4154Lys Missense 29/29 - 6
2-21225837-G-A c.12457C>T p.Gln4153* Nonsense 29/29 - 1
2-21225912-C-A c.12382G>T p.Val4128Leu Missense 29/29 - 3
2-21225912-C-G c.12382G>C p.Val4128Leu Missense 29/29 - 3
2-21225912-C-T c.12382G>A p.Val4128Met Missense 29/29 - 5
2-21226092-GTT-G c.12201_12202del p.Thr4068Leufs*15 Frameshift 29/29 - 1
2-21226096-GCA-G c.12197_12198del p.Leu4066Serfs*17 Frameshift 29/29 - 1
2-21226099-G-GTA c.12194_12195insTA p.Leu4066Thrfs*3 Frameshift 29/29 - 1
2-21226102-A-AAGAGCAC c.12191_12192insGTGCTCT p.Gly4065Cysfs*21 Frameshift 29/29 - 1
2-21226185-T-C c.12109A>G p.Thr4037Ala Missense 29/29 - 1
2-21226252-A-G c.12088-46T>C - IntronicSNV - 28/28 2
2-21226465-A-G c.12088-259T>C - IntronicSNV - 28/28 1
2-21226560-A-G c.12088-354T>C - IntronicSNV - 28/28 15
2-21227212-C-T c.12016G>A p.Val4006Ile Missense 28/29 - 3
2-21227300-TG-T c.11928del p.Asn3977Ilefs*30 Frameshift 28/29 - 1
2-21227301-GA-G c.11927del p.Leu3976Profs*31 Frameshift 28/29 - 1
2-21227383-C-G c.11903+50G>C - IntronicSNV - 27/28 7
2-21227503-T-C c.11833A>G p.Thr3945Ala Missense 27/29 - 1
2-21227520-C-T c.11816G>A p.Gly3939Asp Missense 27/29 - 1
2-21227527-C-T c.11809G>A p.Glu3937Lys Missense 27/29 - 1
2-21227528-G-A c.11808C>T p.Ile3936Ile Synonymous 27/29 - 1
2-21227936-G-A c.11788+16C>T - IntronicSNV - 26/28 1
2-21227979-C-T c.11761G>A p.Val3921Ile Missense 26/29 - 1
2-21227996-G-C c.11744C>G p.Ser3915Cys Missense 26/29 - 1
2-21228012-C-T c.11728G>A p.Glu3910Lys Missense 26/29 - 1
2-21228020-T-C c.11720A>G p.Asp3907Gly Missense 26/29 - 1
2-21228096-C-T c.11644G>A p.Ala3882Thr Missense 26/29 - 1
2-21228099-G-A c.11641C>T p.Gln3881* Nonsense 26/29 - 1
2-21228263-G-A c.11477C>T p.Thr3826Met Missense 26/29 - 1
2-21228263-G-T c.11477C>A p.Thr3826Lys Missense 26/29 - 1
2-21228312-A-AA c.11433dup p.Glu3812* Nonsense 26/29 - 1
2-21228339-A-T c.11401T>A p.Ser3801Thr Missense 26/29 - 3
2-21228340-A-C c.11400T>G p.Tyr3800* Nonsense 26/29 - 1
2-21228340-A-T c.11400T>A p.Tyr3800* Nonsense 26/29 - 1
2-21228386-G-A c.11354C>T p.Thr3785Ile Missense 26/29 - 1
2-21228386-G-C c.11354C>G p.Thr3785Arg Missense 26/29 - 1
2-21228407-G-T c.11333C>A p.Ser3778* Nonsense 26/29 - 1
2-21228437-A-G c.11303T>C p.Ile3768Thr Missense 26/29 - 2
2-21228483-A-G c.11257T>C p.Phe3753Leu Missense 26/29 - 2
2-21228510-G-C c.11230C>G p.Leu3744Val Missense 26/29 - 1
2-21228620-G-A c.11120C>T p.Ala3707Val Missense 26/29 - 1
2-21228699-C-T c.11041G>A p.Asp3681Asn Missense 26/29 - 1
2-21228827-C-T c.10913G>A p.Arg3638Gln Missense 26/29 - 21
2-21228828-G-A c.10912C>T p.Arg3638Trp Missense 26/29 - 1
2-21228828-G-T c.10912C>A p.Arg3638Arg Synonymous 26/29 - 1
2-21228891-CC-C c.10850del p.Gly3617Alafs*6 Frameshift 26/29 - 1
2-21228960-A-C c.10780T>G p.Trp3594Gly Missense 26/29 - 1
2-21228960-A-G c.10780T>C p.Trp3594Arg Missense 26/29 - 3
2-21228960-A-T c.10780T>A p.Trp3594Arg Missense 26/29 - 2
2-21229006-G-GG c.10734dup p.Thr3579Hisfs*34 Frameshift 26/29 - 1
2-21229033-G-A c.10707C>T p.Asn3569Asn Synonymous 26/29 - 1
2-21229039-C-A c.10701G>T p.Thr3567Thr Synonymous 26/29 - 1
2-21229039-C-T c.10701G>A p.Thr3567Thr Synonymous 26/29 - 1
2-21229040-G-A c.10700C>T p.Thr3567Met Missense 26/29 - 1
2-21229061-T-C c.10679A>G p.Tyr3560Cys Missense 26/29 - 1
2-21229068-G-A c.10672C>T p.Arg3558Cys Missense 26/29 - 7
2-21229119-T-C c.10621A>G p.Ile3541Val Missense 26/29 - 1
2-21229119-T-G c.10621A>C p.Ile3541Leu Missense 26/29 - 1
2-21229160-C-A c.10580G>T p.Arg3527Leu Missense 26/29 - 22
2-21229160-CG-GA c.10579_10580delinsTC p.Arg3527Ser Missense 26/29 - 2
2-21229160-C-T c.10580G>A p.Arg3527Gln Missense 26/29 - 90
2-21229161-G-A c.10579C>T p.Arg3527Trp Missense 26/29 - 18
2-21229221-G-A c.10519C>T p.Arg3507Trp Missense 26/29 - 2
2-21229232-G-A c.10508C>T p.Ser3503Leu Missense 26/29 - 1
2-21229277-GA-GG c.10462delinsC p.Ser3488Pro Missense 26/29 - 1
2-21229367-CA-C c.10373del p.Met3458Argfs*64 Frameshift 26/29 - 1
2-21229417-C-CCA c.10322_10323insTG p.Lys3441Asnfs*82 Frameshift 26/29 - 1
2-21229419-T-TC c.10320_10321insG p.Lys3441Glufs*5 Frameshift 26/29 - 1
2-21229446-G-C c.10294C>G p.Gln3432Glu Missense 26/29 - 6
2-21229463-G-A c.10277C>T p.Ala3426Val Missense 26/29 - 2
2-21229503-T-G c.10237A>C p.Thr3413Pro Missense 26/29 - 1
2-21229554-C-T c.10186G>A p.Ala3396Thr Missense 26/29 - 4
2-21229558-C-A c.10182G>T p.Lys3394Asn Missense 26/29 - 1
2-21229558-C-G c.10182G>C p.Lys3394Asn Missense 26/29 - 1
2-21229577-G-T c.10163C>A p.Thr3388Lys Missense 26/29 - 1
2-21229595-T-A c.10145A>T p.Glu3382Val Missense 26/29 - 1
2-21229596-C-G c.10144G>C p.Glu3382Gln Missense 26/29 - 1
2-21229597-T-G c.10143A>C p.Leu3381Phe Missense 26/29 - 1
2-21229606-AC-A c.10134del p.Gln3378Hisfs*4 Frameshift 26/29 - 1
2-21229609-C-T c.10131G>A p.Leu3377Leu Synonymous 26/29 - 2
2-21229647-G-C c.10093C>G p.His3365Asp Missense 26/29 - 1
2-21229703-C-A c.10037G>T p.Ser3346Ile Missense 26/29 - 1
2-21229798-C-CCA c.9941_9942insTG p.Lys3314Asnfs*14 Frameshift 26/29 - 1
2-21229803-G-T c.9937C>A p.Leu3313Ile Missense 26/29 - 1
2-21229833-C-T c.9907G>A p.Glu3303Lys Missense 26/29 - 1
2-21229860-A-G c.9880T>C p.Ser3294Pro Missense 26/29 - 5
2-21229869-G-A c.9871C>T p.Arg3291Cys Missense 26/29 - 1
2-21229873-G-T c.9867C>A p.Asp3289Glu Missense 26/29 - 1
2-21229905-T-C c.9835A>G p.Ser3279Gly Missense 26/29 - 9
2-21229986-T-TT c.9754dup p.Thr3252Asnfs*8 Frameshift 26/29 - 1
2-21230022-C-T c.9718G>A p.Asp3240Asn Missense 26/29 - 1
2-21230132-G-T c.9608C>A p.Ser3203Tyr Missense 26/29 - 1
2-21230334-G-A c.9406C>T p.Arg3136Cys Missense 26/29 - 1
2-21230480-C-T c.9260G>A p.Trp3087* Nonsense 26/29 - 1
2-21230498-C-T c.9242G>A p.Ser3081Asn Missense 26/29 - 1
2-21230514-G-T c.9226C>A p.Leu3076Met Missense 26/29 - 2
2-21230564-C-T c.9176G>A p.Arg3059His Missense 26/29 - 1
2-21230565-G-A c.9175C>T p.Arg3059Cys Missense 26/29 - 3
2-21230565-G-T c.9175C>A p.Arg3059Ser Missense 26/29 - 1
2-21230600-G-A c.9140C>T p.Thr3047Met Missense 26/29 - 1
2-21230600-G-GAGAG c.9140_9141insTCTC p.Ala3048Leufs*7 Frameshift 26/29 - 1
2-21230601-T-TACCATTC c.9138_9139insGAATGGT p.Thr3047Glufs*9 Frameshift 26/29 - 1
2-21230705-T-G c.9035A>C p.Glu3012Ala Missense 26/29 - 1
2-21230736-G-A c.9004C>T p.Leu3002Leu Synonymous 26/29 - 1
2-21230743-G-C c.8997C>G p.His2999Gln Missense 26/29 - 1
2-21230743-G-T c.8997C>A p.His2999Gln Missense 26/29 - 1
2-21230828-T-G c.8912A>C p.Asn2971Thr Missense 26/29 - 1
2-21230858-T-C c.8882A>G p.Asn2961Ser Missense 26/29 - 1
2-21230891-A-G c.8849T>C p.Ile2950Thr Missense 26/29 - 1
2-21231191-AT-TA c.8548_8549delinsTA p.Ile2850Tyr Missense 26/29 - 1
2-21231278-G-A c.8462C>T p.Pro2821Leu Missense 26/29 - 3
2-21231336-C-T c.8404G>A p.Glu2802Lys Missense 26/29 - 1
2-21231387-T-G c.8353A>C p.Asn2785His Missense 26/29 - 6
2-21231524-G-A c.8216C>T p.Pro2739Leu Missense 26/29 - 80
2-21231524-G-C c.8216C>G p.Pro2739Arg Missense 26/29 - 1
2-21231524-G-T c.8216C>A p.Pro2739Gln Missense 26/29 - 63
2-21231592-G-A c.8148C>T p.Ile2716Ile Synonymous 26/29 - 3
2-21231592-G-T c.8148C>A p.Ile2716Ile Synonymous 26/29 - 1
2-21231628-C-T c.8112G>A p.Ala2704Ala Synonymous 26/29 - 1
2-21231629-G-GA c.8110_8111insT p.Ala2704Valfs*26 Frameshift 26/29 - 1
2-21231647-A-G c.8093T>C p.Val2698Ala Missense 26/29 - 1
2-21231660-T-A c.8080A>T p.Arg2694Trp Missense 26/29 - 1
2-21231867-T-TA c.7872_7873insT p.Arg2625* Nonsense 26/29 - 1
2-21231963-T-C c.7777A>G p.Ile2593Val Missense 26/29 - 1
2-21231999-C-T c.7741G>A p.Val2581Ile Missense 26/29 - 1
2-21232019-G-A c.7721C>T p.Ala2574Val Missense 26/29 - 1
2-21232044-C-T c.7696G>A p.Glu2566Lys Missense 26/29 - 8
2-21232121-C-A c.7619G>T p.Gly2540Val Missense 26/29 - 1
2-21232125-C-T c.7615G>A p.Val2539Ile Missense 26/29 - 2
2-21232128-G-A c.7612C>T p.Leu2538Leu Synonymous 26/29 - 2
2-21232163-A-G c.7577T>C p.Met2526Thr Missense 26/29 - 1
2-21232195-G-A c.7545C>T p.Thr2515Thr Synonymous 26/29 - 153
2-21232195-G-C c.7545C>G p.Thr2515Thr Synonymous 26/29 - 8
2-21232195-G-T c.7545C>A p.Thr2515Thr Synonymous 26/29 - 8
2-21232281-T-C c.7459A>G p.Thr2487Ala Missense 26/29 - 1
2-21232341-T-A c.7399A>T p.Lys2467* Nonsense 26/29 - 1
2-21232368-C-G c.7372G>C p.Glu2458Gln Missense 26/29 - 1
2-21232373-G-T c.7367C>A p.Ala2456Asp Missense 26/29 - 3
2-21232374-C-T c.7366G>A p.Ala2456Thr Missense 26/29 - 1
2-21232404-C-T c.7336G>A p.Val2446Met Missense 26/29 - 1
2-21232409-C-T c.7331G>A p.Arg2444His Missense 26/29 - 1
2-21232455-A-C c.7285T>G p.Ser2429Ala Missense 26/29 - 2
2-21232455-A-T c.7285T>A p.Ser2429Thr Missense 26/29 - 4
2-21232498-T-A c.7242A>T p.Glu2414Asp Missense 26/29 - 2
2-21232498-T-G c.7242A>C p.Glu2414Asp Missense 26/29 - 2
2-21232517-G-A c.7223C>T p.Ser2408Phe Missense 26/29 - 1
2-21232530-G-T c.7210C>A p.Leu2404Ile Missense 26/29 - 1
2-21232567-C-A c.7173G>T p.Glu2391Asp Missense 26/29 - 1
2-21232567-C-G c.7173G>C p.Glu2391Asp Missense 26/29 - 1
2-21232606-G-T c.7134C>A p.Ser2378Arg Missense 26/29 - 1
2-21232622-G-T c.7118C>A p.Thr2373Asn Missense 26/29 - 1
2-21232624-C-CAGAG c.7115_7116insCTCT p.Glu2372Aspfs*15 Frameshift 26/29 - 1
2-21232625-T-TA c.7114_7115insT p.Glu2372Valfs*14 Frameshift 26/29 - 1
2-21232627-C-CA c.7112_7113insT p.Lys2371Asnfs*15 Frameshift 26/29 - 1
2-21232697-T-C c.7043A>G p.Tyr2348Cys Missense 26/29 - 1
2-21232728-T-A c.7012A>T p.Arg2338* Nonsense 26/29 - 1
2-21232803-T-A c.6937A>T p.Ile2313Phe Missense 26/29 - 5
2-21232803-T-C c.6937A>G p.Ile2313Val Missense 26/29 - 5
2-21232804-G-A c.6936C>T p.Asp2312Asp Synonymous 26/29 - 11
2-21232845-C-G c.6895G>C p.Asp2299His Missense 26/29 - 2
2-21233021-T-G c.6719A>C p.Lys2240Thr Missense 26/29 - 1
2-21233022-T-A c.6718A>T p.Lys2240* Nonsense 26/29 - 4
2-21233091-G-A c.6649C>T p.His2217Tyr Missense 26/29 - 1
2-21233102-ATCA-A c.6639_6641del p.Asp2213del InFrameDeletion 26/29 - 2
2-21233133-C-T c.6607G>A p.Asp2203Asn Missense 26/29 - 1
2-21233175-A-C c.6565T>G p.Tyr2189Asp Missense 26/29 - 1
2-21233189-T-C c.6551A>G p.Tyr2184Cys Missense 26/29 - 2
2-21233223-G-A c.6517C>T p.Gln2173* Nonsense 26/29 - 1
2-21233412-T-TA c.6327_6328insT p.Lys2110* Nonsense 26/29 - 1
2-21233456-A-T c.6284T>A p.Val2095Glu Missense 26/29 - 2
2-21233500-A-T c.6240T>A p.Tyr2080* Nonsense 26/29 - 2
2-21233653-T-A c.6087A>T p.Leu2029Phe Missense 26/29 - 1
2-21233653-T-G c.6087A>C p.Leu2029Phe Missense 26/29 - 1
2-21233684-A-AC c.6055_6056insG p.Leu2019Argfs*7 Frameshift 26/29 - 1
2-21233697-C-T c.6043G>A p.Ala2015Thr Missense 26/29 - 1
2-21233706-G-A c.6034C>T p.Arg2012* Nonsense 26/29 - 1
2-21233807-G-A c.5933C>T p.Thr1978Ile Missense 26/29 - 1
2-21233835-T-G c.5905A>C p.Ser1969Arg Missense 26/29 - 1
2-21233877-C-A c.5863G>T p.Val1955Leu Missense 26/29 - 1
2-21233877-C-T c.5863G>A p.Val1955Met Missense 26/29 - 1
2-21233884-A-AG c.5855_5856insC p.His1953Serfs*5 Frameshift 26/29 - 1
2-21233885-T-TACCATTC c.5854_5855insGAATGGT p.His1952Argfs*8 Frameshift 26/29 - 1
2-21233972-T-C c.5768A>G p.His1923Arg Missense 26/29 - 25
2-21233999-T-C c.5741A>G p.Asn1914Ser Missense 26/29 - 11
2-21234039-C-T c.5701G>A p.Ala1901Thr Missense 26/29 - 1
2-21234050-C-T c.5690G>A p.Arg1897His Missense 26/29 - 1
2-21234086-T-C c.5654A>G p.Tyr1885Cys Missense 26/29 - 1
2-21234129-C-T c.5611G>A p.Asp1871Asn Missense 26/29 - 1
2-21234141-G-A c.5599C>T p.Arg1867Trp Missense 26/29 - 1
2-21234396-G-A c.5344C>T p.Gln1782* Nonsense 26/29 - 1
2-21234400-A-C c.5340T>G p.Tyr1780* Nonsense 26/29 - 1
2-21234401-T-G c.5339A>C p.Tyr1780Ser Missense 26/29 - 1
2-21234579-C-G c.5161G>C p.Val1721Leu Missense 26/29 - 1
2-21234630-C-T c.5110G>A p.Ala1704Thr Missense 26/29 - 1
2-21234674-C-T c.5066G>A p.Arg1689His Missense 26/29 - 4
2-21234752-C-G c.4988G>C p.Ser1663Thr Missense 26/29 - 1
2-21234761-A-G c.4979T>C p.Leu1660Ser Missense 26/29 - 1
2-21234774-C-T c.4966G>A p.Ala1656Thr Missense 26/29 - 1
2-21234902-C-G c.4838G>C p.Ser1613Thr Missense 26/29 - 1
2-21234915-A-G c.4825T>C p.Leu1609Leu Synonymous 26/29 - 1
2-21234944-C-T c.4796G>A p.Arg1599His Missense 26/29 - 1
2-21234946-C-CCATTCGAG c.4793_4794insCTCGAATG p.Arg1599Serfs*14 Frameshift 26/29 - 1
2-21234985-G-C c.4755C>G p.Asn1585Lys Missense 26/29 - 1
2-21234985-G-T c.4755C>A p.Asn1585Lys Missense 26/29 - 1
2-21234996-C-T c.4744G>A p.Ala1582Thr Missense 26/29 - 1
2-21235038-G-T c.4702C>A p.Leu1568Met Missense 26/29 - 1
2-21235067-G-C c.4673C>G p.Thr1558Ser Missense 26/29 - 1
2-21235068-T-A c.4672A>T p.Thr1558Ser Missense 26/29 - 1
2-21235077-T-C c.4663A>G p.Ile1555Val Missense 26/29 - 1
2-21235089-G-A c.4651C>T p.Gln1551* Nonsense 26/29 - 1
2-21235155-C-CAGAGTACCA c.4584_4585insTGGTACTCT p.Gln1528_Gly1529insTrpTyrSer InFrameInsertion 26/29 - 1
2-21235208-G-A c.4532C>T p.Thr1511Ile Missense 26/29 - 1
2-21235237-A-AAGAG c.4502_4503insCTCT p.Gly1502Serfs*10 Frameshift 26/29 - 1
2-21235237-A-C c.4503T>G p.Tyr1501* Nonsense 26/29 - 1
2-21235237-A-T c.4503T>A p.Tyr1501* Nonsense 26/29 - 1
2-21235293-C-G c.4447G>C p.Glu1483Gln Missense 26/29 - 1
2-21235358-C-T c.4382G>A p.Trp1461* Nonsense 26/29 - 1
2-21235365-T-C c.4375A>G p.Ser1459Gly Missense 26/29 - 2
2-21235371-C-T c.4369G>A p.Ala1457Thr Missense 26/29 - 1
2-21235475-T-A c.4265A>T p.Cys1422Phe Missense 26/29 - 5
2-21235475-T-C c.4265A>G p.Cys1422Cys Missense 26/29 - 5
2-21235475-T-G c.4265A>C p.Cys1422Ser Missense 26/29 - 5
2-21235565-C-T c.4217-42G>A - IntronicSNV - 25/28 1
2-21236030-A-G c.4216+2T>C - IntronicSNV - 25/28 1
2-21236067-T-C c.4181A>G p.Asp1394Gly Missense 25/29 - 1
2-21236085-C-T c.4163G>A p.Arg1388His Missense 25/29 - 4
2-21236119-T-G c.4129A>C p.Asn1377His Missense 25/29 - 1
2-21236132-G-GAGAGCAC c.4115_4116insGTGCTCT p.Tyr1373Cysfs*24 Frameshift 25/29 - 1
2-21236221-G-A c.4027C>T p.Pro1343Ser Missense 25/29 - 1
2-21236235-G-C c.4013C>G p.Pro1338Arg Missense 25/29 - 1
2-21236251-G-A c.3997C>T p.Arg1333* Nonsense 25/29 - 1
2-21236251-G-C c.3997C>G p.Arg1333Gly Missense 25/29 - 1
2-21236317-T-G c.3931A>C p.Lys1311Gln Missense 25/29 - 1
2-21236337-C-A c.3911G>T p.Gly1304Val Missense 25/29 - 1
2-21236347-G-A c.3901C>T p.Pro1301Ser Missense 25/29 - 1
2-21236398-G-A c.3850C>T p.Arg1284Trp Missense 25/29 - 1
2-21236405-G-A c.3843C>T p.Ser1281Ser Synonymous 25/29 - 1
2-21237238-A-T c.3842+82T>A - IntronicSNV - 24/28 3
2-21237384-C-A c.3778G>T p.Glu1260* Nonsense 24/29 - 1
2-21237421-A-T c.3741T>A p.Tyr1247* Nonsense 24/29 - 1
2-21237441-C-T c.3721G>A p.Ala1241Thr Missense 24/29 - 1
2-21237544-G-A c.3697-79C>T - IntronicSNV - 23/28 69
2-21237544-G-T c.3697-79C>A - IntronicSNV - 23/28 69
2-21237786-T-A c.3696+159A>T - IntronicSNV - 23/28 7
2-21237786-T-G c.3696+159A>C - IntronicSNV - 23/28 7
2-21237944-C-A c.3696+1G>T - IntronicSNV - 23/28 2
2-21237944-C-G c.3696+1G>C - IntronicSNV - 23/28 3
2-21237971-G-A c.3670C>T p.Arg1224Trp Missense 23/29 - 1
2-21238007-G-T c.3634C>A p.Leu1212Met Missense 23/29 - 4
2-21238057-A-G c.3584T>C p.Val1195Ala Missense 23/29 - 1
2-21238095-GG-TG c.3546delinsA p.Thr1182Thr Missense 23/29 - 1
2-21238252-TGC-TGT c.3496delinsA p.Ala1166Thr Missense 22/29 - 8
2-21238259-C-G c.3491G>C p.Arg1164Thr Missense 22/29 - 3
2-21238301-A-T c.3449T>A p.Met1150Lys Missense 22/29 - 1
2-21238323-G-A c.3427C>T p.Pro1143Ser Missense 22/29 - 3
2-21238346-C-T c.3404G>A p.Ser1135Asn Missense 22/29 - 1
2-21238367-C-T c.3383G>A p.Arg1128His Missense 22/29 - 9
2-21238413-C-G c.3337G>C p.Asp1113His Missense 22/29 - 7
2-21238984-A-G c.3332+327T>C - IntronicSNV - 21/28 1
2-21239342-T-C c.3301A>G p.Ile1101Val Missense 21/29 - 1
2-21239364-G-C c.3279C>G p.Thr1093Thr Synonymous 21/29 - 1
2-21239387-C-T c.3256G>A p.Gly1086Ser Missense 21/29 - 1
2-21239404-T-C c.3239A>G p.Asn1080Ser Missense 21/29 - 1
2-21239595-A-G c.3122-74T>C - IntronicSNV - 20/28 1
2-21239595-A-T c.3122-74T>A - IntronicSNV - 20/28 1
2-21239667-T-C c.3122-146A>G - IntronicSNV - 20/28 1
2-21239861-A-AAAG c.3122-341_3122-340insCTT - IntronicInsertion - 20/28 1
2-21239866-T-A c.3122-345A>T - IntronicSNV - 20/28 1
2-21240031-A-C c.3122-510T>G - IntronicSNV - 20/28 1
2-21240031-A-T c.3122-510T>A - IntronicSNV - 20/28 1
2-21240364-A-G c.3122-843T>C - IntronicSNV - 20/28 10
2-21241505-A-G c.3121+359T>C - IntronicSNV - 20/28 10
2-21241744-C-T c.3121+120G>A - IntronicSNV - 20/28 4
2-21242595-CT-GC c.2998_2999delinsGC p.Arg1000Ala Missense 19/29 - 1
2-21242603-CCCCGGTC-C c.2988_2994del p.Gly997Profs*3 Frameshift 19/29 - 1
2-21242613-G-A c.2981C>T p.Pro994Leu Missense 19/29 - 7
2-21242656-C-T c.2938G>A p.Ala980Thr Missense 19/29 - 1
2-21242657-G-A c.2937C>T p.Gly979Gly Synonymous 19/29 - 1
2-21242679-C-G c.2915G>C p.Gly972Ala Missense 19/29 - 1
2-21242680-C-G c.2914G>C p.Gly972Arg Missense 19/29 - 3
2-21242680-C-T c.2914G>A p.Gly972Ser Missense 19/29 - 1
2-21242731-G-A c.2863C>T p.Pro955Ser Missense 19/29 - 4
2-21242731-G-C c.2863C>G p.Pro955Ala Missense 19/29 - 3
2-21242731-G-T c.2863C>A p.Pro955Thr Missense 19/29 - 3
2-21242753-G-A c.2841C>T p.Thr947Thr Synonymous 19/29 - 1
2-21243306-C-T c.2817-529G>A - IntronicSNV - 18/28 1
2-21244000-G-T c.2817-1223C>A - IntronicSNV - 18/28 19
2-21244358-T-G c.2816+1345A>C - IntronicSNV - 18/28 8
2-21244617-G-A c.2816+1086C>T - IntronicSNV - 18/28 1
2-21244797-A-G c.2816+906T>C - IntronicSNV - 18/28 1
2-21245329-G-T c.2816+374C>A - IntronicSNV - 18/28 7
2-21245367-A-G c.2816+336T>C - IntronicSNV - 18/28 8
2-21245703-C-T c.2816G>A p.Gly939Asp Missense 18/29 - 1
2-21245761-C-CGAGAGCACG c.2757_2758insCGTGCTCTC p.Ala919_Gly920insArgAlaLeu InFrameInsertion 18/29 - 1
2-21245802-A-G c.2717T>C p.Phe906Ser Missense 18/29 - 1
2-21245813-G-A c.2706C>T p.Asn902Asn Synonymous 18/29 - 6
2-21245813-G-T c.2706C>A p.Asn902Lys Missense 18/29 - 5
2-21245819-C-A c.2700G>T p.Gln900His Missense 18/29 - 1
2-21245819-C-G c.2700G>C p.Gln900His Missense 18/29 - 1
2-21245863-T-G c.2656A>C p.Asn886His Missense 18/29 - 1
2-21245889-G-A c.2630C>T p.Pro877Leu Missense 18/29 - 3
2-21245890-G-C c.2629C>G p.Pro877Ala Missense 18/29 - 1
2-21246207-A-G c.2604+190T>C - IntronicSNV - 17/28 1
2-21246306-G-C c.2604+91C>G - IntronicSNV - 17/28 1
2-21246410-A-G c.2591T>C p.Leu864Pro Missense 17/29 - 1
2-21246416-A-G c.2585T>C p.Val862Ala Missense 17/29 - 1
2-21246418-TCC-TGT c.2581_2582delinsAC p.Gly861Thr Missense 17/29 - 1
2-21246458-A-C c.2543T>G p.Ile848Arg Missense 17/29 - 1
2-21247065-T-A c.2437-501A>T - IntronicSNV - 16/28 1
2-21247211-C-T c.2436+594G>A - IntronicSNV - 16/28 2
2-21247830-C-T c.2411G>A p.Arg804His Missense 16/29 - 1
2-21247843-G-T c.2398C>A p.Leu800Met Missense 16/29 - 2
2-21247848-CA-C c.2393del p.Leu798Argfs*3 Frameshift 16/29 - 1
2-21247978-T-A c.2263A>T p.Met755Leu Missense 16/29 - 1
2-21247978-T-G c.2263A>C p.Met755Leu Missense 16/29 - 1
2-21247983-C-G c.2258G>C p.Gly753Ala Missense 16/29 - 1
2-21247983-C-T c.2258G>A p.Gly753Glu Missense 16/29 - 1
2-21249659-C-T c.2244+1G>A - IntronicSNV - 15/28 1
2-21249682-G-T c.2222C>A p.Thr741Asn Missense 15/29 - 2
2-21249715-A-G c.2189T>C p.Val730Ala Missense 15/29 - 1
2-21249716-C-T c.2188G>A p.Val730Ile Missense 15/29 - 7
2-21249731-G-A c.2173C>T p.Gln725* Nonsense 15/29 - 1
2-21249735-CA-C c.2169del p.Asn723Lysfs*12 Frameshift 15/29 - 1
2-21249759-GAC-TAA c.2143_2145delinsTTA p.Val715Leu Nonsense 15/29 - 1
2-21249767-C-T c.2137G>A p.Asp713Asn Missense 15/29 - 1
2-21249781-T-C c.2123A>G p.Gln708Arg Missense 15/29 - 1
2-21249808-G-A c.2096C>T p.Pro699Leu Missense 15/29 - 1
2-21249840-A-T c.2068-4T>A - IntronicSNV - 14/28 3
2-21250223-G-A c.2068-387C>T - IntronicSNV - 14/28 1
2-21250223-G-C c.2068-387C>G - IntronicSNV - 14/28 1
2-21250223-G-T c.2068-387C>A - IntronicSNV - 14/28 1
2-21250699-C-T c.2067+1G>A - IntronicSNV - 14/28 1
2-21250713-G-A c.2054C>T p.Ala685Val Missense 14/29 - 1
2-21250725-C-G c.2042G>C p.Gly681Ala Missense 14/29 - 1
2-21250758-T-C c.2009A>G p.Glu670Gly Missense 14/29 - 16
2-21250804-T-C c.1963A>G p.Ile655Val Missense 14/29 - 1
2-21250806-T-C c.1961A>G p.Lys654Arg Missense 14/29 - 1
2-21250819-G-A c.1948C>T p.Pro650Ser Missense 14/29 - 1
2-21250831-G-T c.1936C>A p.Pro646Thr Missense 14/29 - 1
2-21250914-G-A c.1853C>T p.Ala618Val Missense 14/29 - 39
2-21251040-T-G c.1830-103A>C - IntronicSNV - 13/28 8
2-21251255-G-A c.1773C>T p.Asn591Asn Synonymous 13/29 - 2
2-21251274-T-G c.1754A>C p.Gln585Pro Missense 13/29 - 1
2-21251336-ACATAAGA-A c.1687_1693del p.Leu563* Frameshift 13/29 - 1
2-21251342-GA-G c.1686del p.Met564Cysfs*2 Frameshift 13/29 - 1
2-21251367-G-A c.1661C>T p.Pro554Leu Missense 13/29 - 2
2-21251367-G-C c.1661C>G p.Pro554Arg Missense 13/29 - 1
2-21251380-C-G c.1648G>C p.Asp550His Missense 13/29 - 1
2-21251402-C-A c.1626G>T p.Glu542Asp Missense 13/29 - 1
2-21251402-C-T c.1626G>A p.Glu542Glu Synonymous 13/29 - 1
2-21251408-G-GAAGAGCGCG c.1620_1621insGCGCTCTTC p.Asp540_Gln541insAlaLeuPhe InFrameInsertion 13/29 - 1
2-21251800-T-C c.1618-390A>G - IntronicSNV - 12/28 1
2-21252534-G-A c.1594C>T p.Arg532Trp Missense 12/29 - 17
2-21252585-G-A c.1543C>T p.Gln515* Nonsense 12/29 - 1
2-21252596-A-C c.1532T>G p.Leu511Arg Missense 12/29 - 1
2-21252596-AG-TC c.1531_1532delinsGA p.Leu511Glu Missense 12/29 - 2
2-21252635-G-T c.1493C>A p.Thr498Asn Missense 12/29 - 1
2-21252772-G-A c.1468C>T p.Arg490Trp Missense 11/29 - 2
2-21252807-C-T c.1433G>A p.Cys478Tyr Missense 11/29 - 2
2-21252820-T-C c.1420A>G p.Ile474Val Missense 11/29 - 7
2-21252851-CAG-ATC c.1387_1389delinsGAT p.Leu463Asp Missense 11/29 - 1
2-21252852-A-G c.1388T>C p.Leu463Pro Missense 11/29 - 1
2-21255166-G-T c.1352+60C>A - IntronicSNV - 10/28 1
2-21255232-A-G c.1346T>C p.Val449Ala Missense 10/29 - 1
2-21255236-C-T c.1342G>A p.Ala448Thr Missense 10/29 - 1
2-21255251-A-G c.1327T>C p.Tyr443His Missense 10/29 - 1
2-21255263-G-A c.1315C>T p.Arg439* Nonsense 10/29 - 3
2-21255268-C-T c.1310G>A p.Arg437His Missense 10/29 - 2
2-21255280-G-A c.1298C>T p.Ala433Val Missense 10/29 - 2
2-21255280-G-C c.1298C>G p.Ala433Gly Missense 10/29 - 1
2-21255280-G-T c.1298C>A p.Ala433Glu Missense 10/29 - 1
2-21255281-C-T c.1297G>A p.Ala433Thr Missense 10/29 - 1
2-21255290-A-C c.1288T>G p.Phe430Val Missense 10/29 - 1
2-21255355-A-G c.1223T>C p.Ile408Thr Missense 10/29 - 2
2-21255361-A-T c.1217T>A p.Leu406His Missense 10/29 - 1
2-21255379-C-T c.1199G>A p.Arg400His Missense 10/29 - 2
2-21255420-TC-AC c.1158delinsT p.Gly386Gly Missense 10/29 - 1
2-21255427-T-C c.1151A>G p.Gln384Arg Missense 10/29 - 1
2-21255428-G-A c.1150C>T p.Gln384* Nonsense 10/29 - 1
2-21255438-T-A c.1140A>T p.Gln380His Missense 10/29 - 1
2-21255438-T-G c.1140A>C p.Gln380His Missense 10/29 - 1
2-21255447-G-A c.1131C>T p.Ile377Ile Synonymous 10/29 - 1
2-21255447-G-T c.1131C>A p.Ile377Ile Synonymous 10/29 - 1
2-21255764-C-T c.1125-311G>A - IntronicSNV - 9/28 1
2-21256190-G-C c.1105C>G p.Gln369Glu Missense 9/29 - 1
2-21256244-G-T c.1051C>A p.Leu351Met Missense 9/29 - 1
2-21256282-AG-A c.1013del p.Ser338Leufs*18 Frameshift 9/29 - 1
2-21256318-AA-CC c.976_977delinsGG p.Leu326Gly Missense 9/29 - 1
2-21256335-C-CAGAG c.959_960insCTCT p.Lys320Asnfs*21 Frameshift 9/29 - 1
2-21256336-T-TACCA c.958_959insTGGT p.Lys320Metfs*21 Frameshift 9/29 - 1
2-21256339-G-C c.956C>G p.Pro319Arg Missense 9/29 - 1
2-21256365-AAA-AAG c.928delinsC p.Phe310Leu Missense 9/29 - 3
2-21256405-G-C c.905-15C>G - IntronicSNV - 8/28 1
2-21257684-T-C c.904+4A>G - IntronicSNV - 8/28 2
2-21257688-C-T c.904G>A p.Gly302Ser Missense 8/29 - 1
2-21257697-A-C c.895T>G p.Phe299Val Missense 8/29 - 2
2-21257701-G-C c.891C>G p.Arg297Arg Synonymous 8/29 - 1
2-21257717-G-C c.875C>G p.Pro292Arg Missense 8/29 - 1
2-21257725-T-A c.867A>T p.Glu289Asp Missense 8/29 - 1
2-21257725-T-G c.867A>C p.Glu289Asp Missense 8/29 - 1
2-21257927-T-C c.819-154A>G - IntronicSNV - 7/28 2
2-21258469-G-C c.805C>G p.Pro269Ala Missense 7/29 - 1
2-21258523-C-T c.751G>A p.Ala251Thr Missense 7/29 - 2
2-21258549-C-A c.725G>T p.Ser242Ile Missense 7/29 - 1
2-21258550-T-TA c.723_724insT p.Ser242* Nonsense 7/29 - 1
2-21258562-G-A c.712C>T p.Leu238Leu Synonymous 7/29 - 1
2-21258573-G-A c.701C>T p.Pro234Leu Missense 7/29 - 1
2-21258600-C-T c.694-20G>A - IntronicSNV - 6/28 1
2-21259562-T-C c.693+410A>G - IntronicSNV - 6/28 14
2-21259612-A-G c.693+360T>C - IntronicSNV - 6/28 22
2-21259976-C-A c.689G>T p.Gly230Val Missense 6/29 - 1
2-21260015-G-T c.650C>A p.Pro217His Missense 6/29 - 1
2-21260024-C-A c.641G>T p.Arg214Leu Missense 6/29 - 1
2-21260024-C-T c.641G>A p.Arg214His Missense 6/29 - 2
2-21260045-CT-GC c.619_620delinsGC p.Arg207Ala Missense 6/29 - 1
2-21260058-T-C c.607A>G p.Ile203Val Missense 6/29 - 1
2-21260059-T-A c.606A>T p.Glu202Asp Missense 6/29 - 1
2-21260065-TGC-TGT c.598delinsA p.Ala200Thr Missense 6/29 - 1
2-21260074-TGCC-T c.589_591del p.Gly197del InFrameDeletion 6/29 - 1
2-21260084-G-A c.581C>T p.Thr194Met Missense 6/29 - 5
2-21260103-T-TACCATTC c.561_562insGAATGGT p.Thr188Glufs*21 Frameshift 6/29 - 1
2-21260104-G-GAGAGCAC c.560_561insGTGCTCT p.Thr188Cysfs*21 Frameshift 6/29 - 1
2-21260111-T-C c.554A>G p.Asn185Ser Missense 6/29 - 1
2-21260136-G-A c.538-9C>T - IntronicSNV - 5/28 1
2-21260204-G-A c.538-77C>T - IntronicSNV - 5/28 1
2-21260601-G-A c.537+229C>T - IntronicSNV - 5/28 6
2-21260829-C-A c.537+1G>T - IntronicSNV - 5/28 1
2-21260858-G-A c.509C>T p.Thr170Ile Missense 5/29 - 1
2-21260868-G-A c.499C>T p.Pro167Ser Missense 5/29 - 1
2-21260893-CCT-TGT c.473_474delinsCA p.Arg158Thr Missense 5/29 - 1
2-21260927-T-C c.440A>G p.Lys147Arg Missense 5/29 - 1
2-21260934-G-A c.433C>T p.Pro145Ser Missense 5/29 - 8
2-21260934-G-C c.433C>G p.Pro145Ala Missense 5/29 - 5
2-21260937-A-G c.430T>C p.Tyr144His Missense 5/29 - 1
2-21260968-C-A c.399G>T p.Leu133Leu Synonymous 5/29 - 1
2-21260968-C-G c.399G>C p.Leu133Leu Synonymous 5/29 - 1
2-21260968-C-T c.399G>A p.Leu133Leu Synonymous 5/29 - 1
2-21260970-G-A c.397C>T p.Leu133Leu Synonymous 5/29 - 1
2-21261507-T-A c.384-524A>T - IntronicSNV - 4/28 2
2-21261507-T-C c.384-524A>G - IntronicSNV - 4/28 2
2-21261998-A-C c.384-1015T>G - IntronicSNV - 4/28 1
2-21262190-C-T c.384-1207G>A - IntronicSNV - 4/28 1
2-21262427-G-A c.383+1383C>T - IntronicSNV - 4/28 2
2-21262427-G-T c.383+1383C>A - IntronicSNV - 4/28 2
2-21262756-G-A c.383+1054C>T - IntronicSNV - 4/28 1
2-21262871-A-T c.383+939T>A - IntronicSNV - 4/28 1
2-21263639-T-G c.383+171A>C - IntronicSNV - 4/28 14
2-21263813-GA-CG c.379_380delinsCG p.Ser127Arg Missense 4/29 - 1
2-21263814-A-C c.379T>G p.Ser127Ala Missense 4/29 - 1
2-21263869-C-A c.324G>T p.Glu108Asp Missense 4/29 - 1
2-21263869-C-G c.324G>C p.Glu108Asp Missense 4/29 - 1
2-21263886-A-G c.307T>C p.Tyr103His Missense 4/29 - 2
2-21263892-C-T c.301G>A p.Glu101Lys Missense 4/29 - 1
2-21263900-G-A c.293C>T p.Thr98Ile Missense 4/29 - 169
2-21263905-C-A c.288G>T p.Gln96His Missense 4/29 - 1
2-21264734-T-C c.237+499A>G - IntronicSNV - 3/28 2
2-21264937-T-A c.237+296A>T - IntronicSNV - 3/28 2
2-21264937-T-C c.237+296A>G - IntronicSNV - 3/28 2
2-21264937-T-G c.237+296A>C - IntronicSNV - 3/28 2
2-21265141-C-A c.237+92G>T - IntronicSNV - 3/28 1
2-21265141-C-T c.237+92G>A - IntronicSNV - 3/28 1
2-21265252-G-T c.218C>A p.Ala73Asp Missense 3/29 - 1
2-21265255-C-T c.215G>A p.Ser72Asn Missense 3/29 - 1
2-21265298-C-G c.172G>C p.Ala58Pro Missense 3/29 - 1
2-21265304-A-G c.166T>C p.Tyr56His Missense 3/29 - 1
2-21265312-G-A c.158C>T p.Thr53Ile Missense 3/29 - 1
2-21265320-CCG-TGT c.148_150delinsACA p.Arg50Thr Missense 3/29 - 2
2-21265321-C-T c.149G>A p.Arg50Gln Missense 3/29 - 1
2-21265322-G-A c.148C>T p.Arg50Trp Missense 3/29 - 6
2-21265336-C-T c.134G>A p.Arg45Gln Missense 3/29 - 1
2-21265341-C-G c.129G>C p.Ala43Ala Synonymous 3/29 - 1
2-21265341-C-T c.129G>A p.Ala43Ala Synonymous 3/29 - 1
2-21265518-A-T c.122-170T>A - IntronicSNV - 2/28 9
2-21265695-T-C c.122-347A>G - IntronicSNV - 2/28 1
2-21265898-C-T c.121+487G>A - IntronicSNV - 2/28 1
2-21266223-T-C c.121+162A>G - IntronicSNV - 2/28 1
2-21266390-CA-GA c.116delinsC p.Cys39Ser Missense 2/29 - 1
2-21266394-C-A c.112G>T p.Val38Phe Missense 2/29 - 1
2-21266399-C-G c.107G>C p.Ser36Thr Missense 2/29 - 1
2-21266659-C-G c.82+77G>C - IntronicSNV - 1/28 2
2-21266747-C-A c.71G>T p.Gly24Val Missense 1/29 - 1
2-21266751-C-T c.67G>A p.Ala23Thr Missense 1/29 - 1
2-21266761-CAG-TTT c.55_57delinsAAA p.Leu19Lys Missense 1/29 - 1
2-21266771-G-A c.47C>T p.Ala16Val Missense 1/29 - 1
2-21266783-A-G c.35T>C p.Leu12Pro Missense 1/29 - 2
2-21266804-C-T c.14G>A p.Arg5Lys Missense 1/29 - 1
2-21266820-C-T c.-3G>A - 5-UTRSNV 1/29 - 1