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 |