KDR kinase insert domain receptor

Canonical transcript: NM_002253

647 unique variant annotations were identified in 969 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
4-55944651-A-G c.*1457T>C - 3-UTRSNV 30/30 - 1
4-55946014-C-A c.*94G>T - 3-UTRSNV 30/30 - 1
4-55946014-C-T c.*94G>A - 3-UTRSNV 30/30 - 1
4-55946048-G-C c.*60C>G - 3-UTRSNV 30/30 - 1
4-55946081-A-G c.*27T>C - 3-UTRSNV 30/30 - 5
4-55946115-G-A c.4064C>T p.Pro1355Leu Missense 30/30 - 1
4-55946119-G-A c.4060C>T p.Pro1354Ser Missense 30/30 - 2
4-55946141-G-C c.4038C>G p.Asp1346Glu Missense 30/30 - 1
4-55946141-G-T c.4038C>A p.Asp1346Glu Missense 30/30 - 1
4-55946144-A-G c.4035T>C p.Pro1345Pro Synonymous 30/30 - 1
4-55946150-G-A c.4029C>T p.Leu1343Leu Synonymous 30/30 - 1
4-55946150-G-C c.4029C>G p.Leu1343Leu Synonymous 30/30 - 1
4-55946150-G-T c.4029C>A p.Leu1343Leu Synonymous 30/30 - 1
4-55946157-T-C c.4022A>G p.Gln1341Arg Missense 30/30 - 1
4-55946158-G-A c.4021C>T p.Gln1341* Nonsense 30/30 - 1
4-55946171-G-A c.4008C>T p.Thr1336Thr Synonymous 30/30 - 5
4-55946171-G-C c.4008C>G p.Thr1336Thr Synonymous 30/30 - 5
4-55946171-G-T c.4008C>A p.Thr1336Thr Synonymous 30/30 - 1
4-55946172-G-A c.4007C>T p.Thr1336Ile Missense 30/30 - 1
4-55946175-T-C c.4004A>G p.Gln1335Arg Missense 30/30 - 1
4-55946182-C-G c.3997G>C p.Gly1333Arg Missense 30/30 - 1
4-55946182-C-T c.3997G>A p.Gly1333Arg Missense 30/30 - 1
4-55946195-C-T c.3984G>A p.Lys1328Lys Synonymous 30/30 - 1
4-55946208-G-C c.3971C>G p.Ala1324Gly Missense 30/30 - 1
4-55946227-C-G c.3952G>C p.Val1318Leu Missense 30/30 - 1
4-55946232-G-T c.3947C>A p.Thr1316Asn Missense 30/30 - 1
4-55946242-C-G c.3937G>C p.Asp1313His Missense 30/30 - 1
4-55946242-C-T c.3937G>A p.Asp1313Asn Missense 30/30 - 1
4-55946247-G-A c.3932C>T p.Ser1311Phe Missense 30/30 - 1
4-55946253-T-A c.3926A>T p.Tyr1309Phe Missense 30/30 - 1
4-55946257-C-A c.3922G>T p.Gly1308* Nonsense 30/30 - 1
4-55946269-C-A c.3910G>T p.Gly1304Cys Missense 30/30 - 3
4-55946287-C-T c.3892G>A p.Gly1298Ser Missense 30/30 - 1
4-55946295-G-A c.3884C>T p.Ala1295Val Missense 30/30 - 1
4-55946301-G-C c.3878C>G p.Ser1293Cys Missense 30/30 - 1
4-55946320-G-A c.3859C>T p.Pro1287Ser Missense 30/30 - 2
4-55946329-C-G c.3850G>C p.Gly1284Arg Missense 30/30 - 1
4-55946329-C-T c.3850G>A p.Gly1284Arg Missense 30/30 - 1
4-55946346-C-T c.3849-16G>A - IntronicSNV - 29/29 1
4-55946354-G-T c.3849-24C>A - IntronicSNV - 29/29 9
4-55946439-G-A c.3849-109C>T - IntronicSNV - 29/29 1
4-55946671-G-A c.3849-341C>T - IntronicSNV - 29/29 1
4-55946902-T-A c.3849-572A>T - IntronicSNV - 29/29 1
4-55947155-A-C c.3849-825T>G - IntronicSNV - 29/29 1
4-55947272-A-G c.3848+851T>C - IntronicSNV - 29/29 1
4-55947338-T-C c.3848+785A>G - IntronicSNV - 29/29 2
4-55948108-A-G c.3848+15T>C - IntronicSNV - 29/29 3
4-55948131-T-A c.3840A>T p.Pro1280Pro Synonymous 29/30 - 1
4-55948131-T-C c.3840A>G p.Pro1280Pro Synonymous 29/30 - 1
4-55948131-T-G c.3840A>C p.Pro1280Pro Synonymous 29/30 - 1
4-55948160-T-G c.3811A>C p.Thr1271Pro Missense 29/30 - 1
4-55948162-T-C c.3809A>G p.Lys1270Arg Missense 29/30 - 1
4-55948192-C-T c.3779G>A p.Ser1260Asn Missense 29/30 - 1
4-55948198-G-A c.3773C>T p.Thr1258Met Missense 29/30 - 1
4-55948199-T-A c.3772A>T p.Thr1258Ser Missense 29/30 - 1
4-55948593-G-A c.3762+110C>T - IntronicSNV - 28/29 1
4-55948705-C-G c.3760G>C p.Asp1254His Missense 28/30 - 1
4-55948714-C-A c.3751G>T p.Val1251Leu Missense 28/30 - 1
4-55948714-C-G c.3751G>C p.Val1251Leu Missense 28/30 - 1
4-55948737-G-A c.3728C>T p.Pro1243Leu Missense 28/30 - 1
4-55948744-C-T c.3721G>A p.Asp1241Asn Missense 28/30 - 1
4-55948778-TC-AT c.3686_3687delinsAT p.Arg1229His Missense 28/30 - 1
4-55948778-TCG-TGT c.3685_3686delinsAC p.Arg1229Thr Missense 28/30 - 1
4-55948779-C-T c.3686G>A p.Arg1229Gln Missense 28/30 - 1
4-55948798-A-C c.3667T>G p.Tyr1223Asp Missense 28/30 - 1
4-55950162-A-G c.3663-1360T>C - IntronicSNV - 27/29 1
4-55950198-A-T c.3663-1396T>A - IntronicSNV - 27/29 4
4-55951300-T-C c.3662+2474A>G - IntronicSNV - 27/29 1
4-55951432-T-G c.3662+2342A>C - IntronicSNV - 27/29 1
4-55951728-G-T c.3662+2046C>A - IntronicSNV - 27/29 1
4-55951731-G-A c.3662+2043C>T - IntronicSNV - 27/29 1
4-55951823-A-G c.3662+1951T>C - IntronicSNV - 27/29 1
4-55951868-T-C c.3662+1906A>G - IntronicSNV - 27/29 1
4-55951868-T-G c.3662+1906A>C - IntronicSNV - 27/29 1
4-55952181-T-C c.3662+1593A>G - IntronicSNV - 27/29 7
4-55952406-G-A c.3662+1368C>T - IntronicSNV - 27/29 3
4-55953330-C-T c.3662+444G>A - IntronicSNV - 27/29 2
4-55953380-A-G c.3662+394T>C - IntronicSNV - 27/29 1
4-55953380-A-T c.3662+394T>A - IntronicSNV - 27/29 1
4-55953483-G-A c.3662+291C>T - IntronicSNV - 27/29 8
4-55953795-AT-A c.3641del p.Tyr1214Leufs*21 Frameshift 27/30 - 1
4-55953795-T-A c.3641A>T p.Tyr1214Phe Missense 27/30 - 11
4-55953807-G-A c.3629C>T p.Pro1210Leu Missense 27/30 - 2
4-55953813-C-T c.3623G>A p.Cys1208Tyr Missense 27/30 - 2
4-55953820-C-A c.3616G>T p.Glu1206* Nonsense 27/30 - 1
4-55953833-TACAGGAAA-T c.3596_3603del p.Val1199Aspfs*8 Frameshift 27/30 - 1
4-55953837-G-A c.3599C>T p.Ser1200Phe Missense 27/30 - 1
4-55953837-G-T c.3599C>A p.Ser1200Tyr Missense 27/30 - 1
4-55953864-C-T c.3572G>A p.Gly1191Glu Missense 27/30 - 1
4-55953899-C-A c.3537G>T p.Pro1179Pro Synonymous 27/30 - 1
4-55953899-C-G c.3537G>C p.Pro1179Pro Synonymous 27/30 - 1
4-55953899-C-T c.3537G>A p.Pro1179Pro Synonymous 27/30 - 1
4-55953911-G-A c.3525C>T p.Tyr1175Tyr Synonymous 27/30 - 1
4-55953912-T-A c.3524A>T p.Tyr1175Phe Missense 27/30 - 19
4-55953912-TA-AC c.3523_3524delinsGT p.Tyr1175Val Missense 27/30 - 1
4-55953912-TA-CC c.3523_3524delinsGG p.Tyr1175Gly Missense 27/30 - 2
4-55953914-G-C c.3522C>G p.Asp1174Glu Missense 27/30 - 1
4-55953914-G-T c.3522C>A p.Asp1174Glu Missense 27/30 - 1
4-55955022-G-A c.3510+13C>T - IntronicSNV - 26/29 1
4-55955023-G-A c.3510+12C>T - IntronicSNV - 26/29 2
4-55955043-C-A c.3502G>T p.Ala1168Ser Missense 26/30 - 1
4-55955048-GC-TG c.3496_3497delinsCA p.Ala1166His Missense 26/30 - 7
4-55955049-C-T c.3496G>A p.Ala1166Thr Missense 26/30 - 1
4-55955063-C-T c.3482G>A p.Gly1161Glu Missense 26/30 - 1
4-55955069-T-C c.3476A>G p.His1159Arg Missense 26/30 - 1
4-55955078-A-G c.3467T>C p.Leu1156Ser Missense 26/30 - 1
4-55955090-G-A c.3455C>T p.Thr1152Met Missense 26/30 - 1
4-55955091-T-C c.3454A>G p.Thr1152Ala Missense 26/30 - 1
4-55955106-G-A c.3439C>T p.Pro1147Ser Missense 26/30 - 6
4-55955111-CC-AA c.3433_3434delinsTT p.Gly1145Leu Missense 26/30 - 1
4-55955111-C-T c.3434G>A p.Gly1145Glu Missense 26/30 - 3
4-55955112-C-G c.3433G>C p.Gly1145Arg Missense 26/30 - 1
4-55955112-C-T c.3433G>A p.Gly1145Arg Missense 26/30 - 1
4-55955116-C-T c.3429G>A p.Trp1143* Nonsense 26/30 - 2
4-55955117-C-T c.3428G>A p.Trp1143* Nonsense 26/30 - 2
4-55955122-G-T c.3423C>A p.Asp1141Glu Missense 26/30 - 1
4-55955127-G-T c.3418C>A p.Leu1140Met Missense 26/30 - 2
4-55955140-C-T c.3405G>A p.Met1135Ile Missense 26/30 - 1
4-55955141-C-T c.3405-1G>A - IntronicSNV - 25/29 1
4-55955205-T-C c.3405-65A>G - IntronicSNV - 25/29 1
4-55955211-G-A c.3405-71C>T - IntronicSNV - 25/29 2
4-55955211-G-T c.3405-71C>A - IntronicSNV - 25/29 2
4-55955232-T-A c.3405-92A>T - IntronicSNV - 25/29 25
4-55955232-T-C c.3405-92A>G - IntronicSNV - 25/29 25
4-55955232-T-G c.3405-92A>C - IntronicSNV - 25/29 1
4-55955556-T-A c.3389A>T p.Tyr1130Phe Missense 25/30 - 2
4-55955565-G-T c.3380C>A p.Ala1127Asp Missense 25/30 - 1
4-55955586-T-C c.3359A>G p.Lys1120Arg Missense 25/30 - 1
4-55955592-C-T c.3353G>A p.Arg1118Gln Missense 25/30 - 1
4-55955593-G-A c.3352C>T p.Arg1118* Nonsense 25/30 - 1
4-55955595-C-G c.3350G>C p.Arg1117Thr Missense 25/30 - 1
4-55955616-T-C c.3329A>G p.Lys1110Arg Missense 25/30 - 1
4-55955620-C-A c.3325G>T p.Val1109Leu Missense 25/30 - 1
4-55955863-G-A c.3299C>T p.Ser1100Phe Missense 24/30 - 2
4-55955873-C-A c.3289G>T p.Glu1097* Nonsense 24/30 - 1
4-55955875-C-T c.3287G>A p.Trp1096* Nonsense 24/30 - 2
4-55955880-C-A c.3282G>T p.Leu1094Phe Missense 24/30 - 1
4-55955880-C-G c.3282G>C p.Leu1094Phe Missense 24/30 - 1
4-55955898-GAC-ATG c.3262_3264delinsCAT p.Val1088His Missense 24/30 - 1
4-55955923-CT-GC c.3238_3239delinsGC p.Arg1080Ala Missense 24/30 - 1
4-55955924-T-C c.3238A>G p.Arg1080Gly Missense 24/30 - 1
4-55955926-TC-CG c.3235_3236delinsCG p.Asp1079Arg Missense 24/30 - 1
4-55955942-G-T c.3220C>A p.Pro1074Thr Missense 24/30 - 1
4-55955958-A-C c.3204T>G p.Pro1068Pro Synonymous 24/30 - 1
4-55955958-A-G c.3204T>C p.Pro1068Pro Synonymous 24/30 - 1
4-55955958-A-T c.3204T>A p.Pro1068Pro Synonymous 24/30 - 1
4-55955965-C-T c.3197G>A p.Arg1066His Missense 24/30 - 1
4-55955969-C-T c.3193G>A p.Ala1065Thr Missense 24/30 - 9
4-55956125-C-T c.3190G>A p.Asp1064Asn Missense 23/30 - 1
4-55956139-T-A c.3176A>T p.Tyr1059Phe Missense 23/30 - 7
4-55956152-T-C c.3163A>G p.Lys1055Glu Missense 23/30 - 1
4-55956154-T-A c.3161A>T p.Tyr1054Phe Missense 23/30 - 7
4-55956158-T-A c.3157A>T p.Ile1053Phe Missense 23/30 - 1
4-55956180-A-G c.3135T>C p.Cys1045Cys Synonymous 23/30 - 1
4-55956181-CA-GC c.3133_3134delinsGC p.Cys1045Ala Missense 23/30 - 1
4-55956194-C-T c.3121G>A p.Val1041Met Missense 23/30 - 2
4-55956204-C-T c.3111G>A p.Ser1037Ser Synonymous 23/30 - 1
4-55956220-C-T c.3095G>A p.Arg1032Gln Missense 23/30 - 8
4-55956221-G-A c.3094C>T p.Arg1032* Nonsense 23/30 - 1
4-55956227-C-T c.3088G>A p.Ala1030Thr Missense 23/30 - 2
4-55956235-CT-GC c.3079_3080delinsGC p.Arg1027Ala Missense 23/30 - 1
4-55956836-G-A c.3070-591C>T - IntronicSNV - 22/29 6
4-55957723-A-G c.3069+1061T>C - IntronicSNV - 22/29 8
4-55958208-T-C c.3069+576A>G - IntronicSNV - 22/29 1
4-55958785-T-C c.3068A>G p.Lys1023Arg Missense 22/30 - 1
4-55958789-G-A c.3064C>T p.Arg1022* Nonsense 22/30 - 2
4-55958792-A-C c.3061T>G p.Ser1021Ala Missense 22/30 - 1
4-55958812-T-C c.3041A>G p.Lys1014Arg Missense 22/30 - 1
4-55958866-T-A c.2987A>T p.Tyr996Phe Missense 22/30 - 4
4-55959141-C-T c.2972-260G>A - IntronicSNV - 21/29 3
4-55959152-A-G c.2972-271T>C - IntronicSNV - 21/29 3
4-55959862-C-G c.2972-981G>C - IntronicSNV - 21/29 1
4-55959862-C-T c.2972-981G>A - IntronicSNV - 21/29 1
4-55960968-C-T c.2971+1G>A - IntronicSNV - 21/29 1
4-55960971-T-A c.2969A>T p.Glu990Val Missense 21/30 - 1
4-55960971-T-C c.2969A>G p.Glu990Gly Missense 21/30 - 1
4-55960977-T-A c.2963A>T p.Glu988Val Missense 21/30 - 1
4-55960978-C-T c.2962G>A p.Glu988Lys Missense 21/30 - 1
4-55960980-T-C c.2960A>G p.Glu987Gly Missense 21/30 - 1
4-55960980-TC-AC c.2960delinsT p.Glu987Val Missense 21/30 - 1
4-55960981-C-A c.2959G>T p.Glu987* Nonsense 21/30 - 2
4-55960981-C-G c.2959G>C p.Glu987Gln Missense 21/30 - 1
4-55960987-C-T c.2953G>A p.Asp985Asn Missense 21/30 - 1
4-55960989-C-G c.2951G>C p.Ser984Thr Missense 21/30 - 1
4-55960992-A-G c.2948T>C p.Leu983Pro Missense 21/30 - 1
4-55960994-G-A c.2946C>T p.Ser982Ser Synonymous 21/30 - 1
4-55961008-C-T c.2932G>A p.Val978Met Missense 21/30 - 1
4-55961019-CT-GC c.2920_2921delinsGC p.Ser974Ala Missense 21/30 - 1
4-55961021-G-A c.2919C>T p.Ala973Ala Synonymous 21/30 - 1
4-55961022-G-A c.2918C>T p.Ala973Val Missense 21/30 - 1
4-55961023-C-A c.2917G>T p.Ala973Ser Missense 21/30 - 2
4-55961037-C-A c.2903G>T p.Ser968Ile Missense 21/30 - 2
4-55961045-G-C c.2895C>G p.Ser965Arg Missense 21/30 - 1
4-55961045-G-T c.2895C>A p.Ser965Arg Missense 21/30 - 1
4-55961047-T-G c.2893A>C p.Ser965Arg Missense 21/30 - 1
4-55961053-A-C c.2887T>G p.Leu963Val Missense 21/30 - 1
4-55961055-C-T c.2885G>A p.Arg962His Missense 21/30 - 1
4-55961058-C-T c.2882G>A p.Arg961Gln Missense 21/30 - 1
4-55961059-G-A c.2881C>T p.Arg961Trp Missense 21/30 - 4
4-55961059-G-T c.2881C>A p.Arg961Arg Synonymous 21/30 - 1
4-55961083-C-T c.2857G>A p.Gly953Arg Missense 21/30 - 1
4-55961086-C-T c.2854G>A p.Val952Ile Missense 21/30 - 5
4-55961088-T-A c.2852A>T p.Tyr951Phe Missense 21/30 - 11
4-55961104-G-A c.2836C>T p.Arg946Cys Missense 21/30 - 2
4-55961110-G-A c.2830C>T p.Arg944* Nonsense 21/30 - 1
4-55961159-T-C c.2818-37A>G - IntronicSNV - 20/29 9
4-55961815-C-T c.2746G>A p.Val916Met Missense 20/30 - 2
4-55961818-T-C c.2743A>G p.Ile915Val Missense 20/30 - 1
4-55961825-G-A c.2736C>T p.Leu912Leu Synonymous 20/30 - 1
4-55962332-C-A c.2728+64G>T - IntronicSNV - 19/29 1
4-55962332-C-T c.2728+64G>A - IntronicSNV - 19/29 1
4-55962358-T-C c.2728+38A>G - IntronicSNV - 19/29 1
4-55962397-TC-AC c.2727delinsT p.Gly909Gly Missense 19/30 - 1
4-55962401-G-C c.2723C>G p.Pro908Arg Missense 19/30 - 1
4-55962425-T-C c.2699A>G p.Asn900Ser Missense 19/30 - 1
4-55962445-A-C c.2679T>G p.Gly893Gly Synonymous 19/30 - 1
4-55962446-C-G c.2678G>C p.Gly893Ala Missense 19/30 - 1
4-55962447-C-A c.2677G>T p.Gly893Cys Missense 19/30 - 1
4-55962451-A-G c.2673T>C p.His891His Synonymous 19/30 - 1
4-55962452-TG-GC c.2671_2672delinsGC p.His891Ala Missense 19/30 - 1
4-55962470-T-C c.2654A>G p.Glu885Gly Missense 19/30 - 1
4-55962486-G-A c.2638C>T p.Arg880* Nonsense 19/30 - 1
4-55962494-C-T c.2630G>A p.Ser877Asn Missense 19/30 - 1
4-55962501-T-C c.2623A>G p.Thr875Ala Missense 19/30 - 2
4-55962507-C-T c.2617G>A p.Gly873Arg Missense 19/30 - 2
4-55962545-T-G c.2615-36A>C - IntronicSNV - 18/29 2
4-55962547-G-GG c.2615-37dup - IntronicInsertion - 18/29 6
4-55963839-TT-TG c.2603delinsC p.Lys868Thr Missense 18/30 - 5
4-55963840-T-C c.2603A>G p.Lys868Arg Missense 18/30 - 1
4-55963840-TT-GC c.2602_2603delinsGC p.Lys868Ala Missense 18/30 - 1
4-55963852-G-C c.2591C>G p.Thr864Arg Missense 18/30 - 1
4-55963861-G-C c.2582C>G p.Thr861Ser Missense 18/30 - 1
4-55963862-T-A c.2581A>T p.Thr861Ser Missense 18/30 - 1
4-55963895-C-T c.2548G>A p.Glu850Lys Missense 18/30 - 1
4-55963900-A-T c.2543T>A p.Val848Glu Missense 18/30 - 1
4-55963919-G-A c.2524C>T p.Arg842Cys Missense 18/30 - 1
4-55963919-G-T c.2524C>A p.Arg842Ser Missense 18/30 - 1
4-55963927-G-A c.2516C>T p.Pro839Leu Missense 18/30 - 1
4-55964101-T-C c.2510-168A>G - IntronicSNV - 17/29 14
4-55964316-G-A c.2497C>T p.Arg833Trp Missense 17/30 - 1
4-55964319-C-A c.2494G>T p.Asp832Tyr Missense 17/30 - 1
4-55964324-G-A c.2489C>T p.Pro830Leu Missense 17/30 - 1
4-55964325-G-A c.2488C>T p.Pro830Ser Missense 17/30 - 1
4-55964349-A-C c.2464T>G p.Tyr822Asp Missense 17/30 - 1
4-55964366-T-A c.2447A>T p.His816Leu Missense 17/30 - 1
4-55964370-C-G c.2443G>C p.Glu815Gln Missense 17/30 - 1
4-55964372-T-A c.2441A>T p.Asp814Val Missense 17/30 - 3
4-55964373-C-A c.2440G>T p.Asp814Tyr Missense 17/30 - 6
4-55964399-A-G c.2414T>C p.Val805Ala Missense 17/30 - 2
4-55964400-C-T c.2413G>A p.Val805Ile Missense 17/30 - 1
4-55964411-T-A c.2402A>T p.Tyr801Phe Missense 17/30 - 4
4-55964414-C-T c.2399G>A p.Gly800Asp Missense 17/30 - 1
4-55964435-T-C c.2378A>G p.Asn793Ser Missense 17/30 - 2
4-55964565-A-G c.2374-126T>C - IntronicSNV - 16/29 2
4-55964605-C-A c.2374-166G>T - IntronicSNV - 16/29 1
4-55964605-C-T c.2374-166G>A - IntronicSNV - 16/29 1
4-55964835-C-T c.2373+29G>A - IntronicSNV - 16/29 1
4-55964866-G-A c.2371C>T p.Arg791Trp Missense 16/30 - 1
4-55964877-C-T c.2360G>A p.Arg787Gln Missense 16/30 - 1
4-55964878-G-A c.2359C>T p.Arg787Trp Missense 16/30 - 1
4-55964878-G-C c.2359C>G p.Arg787Gly Missense 16/30 - 1
4-55964905-A-T c.2332T>A p.Phe778Ile Missense 16/30 - 1
4-55964906-GAA-GAG c.2329delinsC p.Phe777Leu Missense 16/30 - 1
4-55964913-G-A c.2324C>T p.Ala775Val Missense 16/30 - 2
4-55964922-G-A c.2315C>T p.Ala772Val Missense 16/30 - 1
4-55964925-G-A c.2312C>T p.Thr771Met Missense 16/30 - 2
4-55964925-G-C c.2312C>G p.Thr771Arg Missense 16/30 - 12
4-55964925-G-T c.2312C>A p.Thr771Lys Missense 16/30 - 3
4-55964928-C-A c.2309G>T p.Gly770Val Missense 16/30 - 1
4-55964928-CC-AT c.2308_2309delinsAT p.Gly770Ile Missense 16/30 - 1
4-55964936-AAT-GAG c.2299_2301delinsCTC p.Ile767Leu Missense 16/30 - 1
4-55964946-TC-AT c.2290_2291delinsAT p.Glu764Ile Missense 16/30 - 1
4-55964952-T-A c.2285A>T p.Asn762Ile Missense 16/30 - 1
4-55964955-G-A c.2282C>T p.Thr761Met Missense 16/30 - 1
4-55964967-G-C c.2270C>G p.Ala757Gly Missense 16/30 - 1
4-55964968-C-G c.2269G>C p.Ala757Pro Missense 16/30 - 1
4-55964968-C-T c.2269G>A p.Ala757Thr Missense 16/30 - 1
4-55964970-C-T c.2267G>A p.Gly756Asp Missense 16/30 - 1
4-55965434-G-A c.2267-464C>T - IntronicSNV - 15/29 1
4-55965719-A-G c.2267-749T>C - IntronicSNV - 15/29 1
4-55966453-C-T c.2267-1483G>A - IntronicSNV - 15/29 4
4-55966801-C-T c.2266+1263G>A - IntronicSNV - 15/29 15
4-55966898-T-C c.2266+1166A>G - IntronicSNV - 15/29 12
4-55967178-T-A c.2266+886A>T - IntronicSNV - 15/29 1
4-55967483-A-C c.2266+581T>G - IntronicSNV - 15/29 5
4-55968053-A-C c.2266+11T>G - IntronicSNV - 15/29 5
4-55968053-A-G c.2266+11T>C - IntronicSNV - 15/29 5
4-55968053-A-T c.2266+11T>A - IntronicSNV - 15/29 5
4-55968073-T-C c.2257A>G p.Ile753Val Missense 15/30 - 1
4-55968082-C-G c.2248G>C p.Ala750Pro Missense 15/30 - 1
4-55968083-C-A c.2247G>T p.Glu749Asp Missense 15/30 - 1
4-55968083-C-G c.2247G>C p.Glu749Asp Missense 15/30 - 1
4-55968085-C-T c.2245G>A p.Glu749Lys Missense 15/30 - 1
4-55968091-T-G c.2239A>C p.Lys747Gln Missense 15/30 - 1
4-55968092-T-A c.2238A>T p.Ala746Ala Synonymous 15/30 - 1
4-55968092-T-C c.2238A>G p.Ala746Ala Synonymous 15/30 - 1
4-55968092-T-G c.2238A>C p.Ala746Ala Synonymous 15/30 - 1
4-55968137-G-C c.2193C>G p.Asp731Glu Missense 15/30 - 1
4-55968137-G-T c.2193C>A p.Asp731Glu Missense 15/30 - 1
4-55968138-TC-CG c.2191_2192delinsCG p.Asp731Arg Missense 15/30 - 1
4-55968138-T-G c.2192A>C p.Asp731Ala Missense 15/30 - 2
4-55968153-CT-GC c.2176_2177delinsGC p.Arg726Ala Missense 15/30 - 1
4-55968156-CG-GC c.2173_2174delinsGC p.Arg725Ala Missense 15/30 - 1
4-55968167-GTT-CAA c.2161_2163delinsTTG p.Asn721Leu Missense 15/30 - 1
4-55968171-C-G c.2159G>C p.Arg720Pro Missense 15/30 - 1
4-55968171-C-T c.2159G>A p.Arg720Gln Missense 15/30 - 1
4-55968172-G-A c.2158C>T p.Arg720Trp Missense 15/30 - 2
4-55968180-T-A c.2150A>T p.Asp717Val Missense 15/30 - 4
4-55968195-C-G c.2135G>C p.Gly712Ala Missense 15/30 - 1
4-55968543-A-C c.2120T>G p.Leu707Arg Missense 14/30 - 1
4-55968551-ATT-CAA c.2110_2112delinsTTG p.Asn704Leu Missense 14/30 - 1
4-55968553-TTAT-T c.2110_2112del p.Asn704del InFrameDeletion 14/30 - 2
4-55968572-C-A c.2091G>T p.Gln697His Missense 14/30 - 1
4-55968572-C-G c.2091G>C p.Gln697His Missense 14/30 - 1
4-55968597-G-A c.2066C>T p.Thr689Met Missense 14/30 - 3
4-55968621-C-G c.2042G>C p.Gly681Ala Missense 14/30 - 1
4-55968622-C-G c.2041G>C p.Gly681Arg Missense 14/30 - 2
4-55968622-C-T c.2041G>A p.Gly681Arg Missense 14/30 - 2
4-55968638-ATT-CAA c.2023_2025delinsTTG p.Asn675Leu Missense 14/30 - 2
4-55968641-C-G c.2022G>C p.Glu674Asp Missense 14/30 - 1
4-55968654-G-A c.2009C>T p.Thr670Ile Missense 14/30 - 12
4-55968660-G-T c.2003C>A p.Thr668Lys Missense 14/30 - 1
4-55968673-G-A c.1990C>T p.Arg664Cys Missense 14/30 - 1
4-55968745-C-G c.1988-70G>C - IntronicSNV - 13/29 2
4-55969711-C-G c.1988-1036G>C - IntronicSNV - 13/29 1
4-55970101-A-C c.1987+709T>G - IntronicSNV - 13/29 4
4-55970101-A-T c.1987+709T>A - IntronicSNV - 13/29 4
4-55970205-G-C c.1987+605C>G - IntronicSNV - 13/29 1
4-55970680-G-A c.1987+130C>T - IntronicSNV - 13/29 7
4-55970680-G-T c.1987+130C>A - IntronicSNV - 13/29 7
4-55970782-G-A c.1987+28C>T - IntronicSNV - 13/29 2
4-55970825-G-A c.1972C>T p.Gln658* Nonsense 13/30 - 2
4-55970846-T-C c.1951A>G p.Lys651Glu Missense 13/30 - 1
4-55970849-T-C c.1948A>G p.Lys650Glu Missense 13/30 - 2
4-55970884-C-G c.1913G>C p.Gly638Ala Missense 13/30 - 1
4-55970894-G-A c.1903C>T p.Gln635* Nonsense 13/30 - 1
4-55970930-C-A c.1867G>T p.Asp623Tyr Missense 13/30 - 2
4-55970949-C-T c.1848G>A p.Met616Ile Missense 13/30 - 1
4-55970963-A-G c.1834T>C p.Leu612Leu Synonymous 13/30 - 1
4-55970967-C-T c.1830G>A p.Trp610* Nonsense 13/30 - 1
4-55970968-C-T c.1829G>A p.Trp610* Nonsense 13/30 - 1
4-55970972-G-A c.1825C>T p.Leu609Phe Missense 13/30 - 1
4-55971029-G-A c.1768C>T p.Pro590Ser Missense 13/30 - 2
4-55971059-T-C c.1738A>G p.Asn580Asp Missense 13/30 - 1
4-55971098-C-T c.1699G>A p.Val567Met Missense 13/30 - 2
4-55971122-T-A c.1675A>T p.Met559Leu Missense 13/30 - 1
4-55971153-T-A c.1646-2A>T - IntronicSNV - 12/29 1
4-55971241-C-A c.1646-90G>T - IntronicSNV - 12/29 1
4-55971513-A-G c.1646-362T>C - IntronicSNV - 12/29 1
4-55971846-G-T c.1645+153C>A - IntronicSNV - 12/29 4
4-55972019-A-C c.1625T>G p.Val542Gly Missense 12/30 - 1
4-55972023-T-C c.1621A>G p.Arg541Gly Missense 12/30 - 1
4-55972023-T-G c.1621A>C p.Arg541Arg Synonymous 12/30 - 2
4-55972026-C-A c.1618G>T p.Glu540* Nonsense 12/30 - 1
4-55972029-C-T c.1615G>A p.Gly539Arg Missense 12/30 - 4
4-55972031-CT-GC c.1612_1613delinsGC p.Arg538Ala Missense 12/30 - 1
4-55972039-TT-TG c.1604delinsC p.Lys535Thr Missense 12/30 - 1
4-55972049-G-A c.1595C>T p.Ala532Val Missense 12/30 - 2
4-55972059-T-A c.1585A>T p.Lys529* Nonsense 12/30 - 1
4-55972864-C-T c.1526G>A p.Gly509Glu Missense 11/30 - 1
4-55972877-C-T c.1513G>A p.Ala505Thr Missense 11/30 - 1
4-55972890-A-C c.1500T>G p.Asn500Lys Missense 11/30 - 1
4-55972890-A-T c.1500T>A p.Asn500Lys Missense 11/30 - 1
4-55972897-T-G c.1493A>C p.Glu498Ala Missense 11/30 - 1
4-55972917-G-T c.1473C>A p.Phe491Leu Missense 11/30 - 1
4-55972919-A-C c.1471T>G p.Phe491Val Missense 11/30 - 1
4-55972928-C-T c.1462G>A p.Val488Met Missense 11/30 - 1
4-55972935-C-T c.1455G>A p.Trp485* Nonsense 11/30 - 1
4-55972936-C-T c.1454G>A p.Trp485* Nonsense 11/30 - 1
4-55972945-C-G c.1445G>C p.Cys482Ser Missense 11/30 - 1
4-55972946-A-G c.1444T>C p.Cys482Arg Missense 11/30 - 28
4-55972946-A-T c.1444T>A p.Cys482Ser Missense 11/30 - 1
4-55972951-T-C c.1439A>G p.Tyr480Cys Missense 11/30 - 1
4-55972955-G-A c.1435C>T p.Pro479Ser Missense 11/30 - 1
4-55972973-CT-TA c.1416_1417delinsTA p.Gln472_Ala473delinsHisThr MultiAAMissense 11/30 - 2
4-55972974-T-A c.1416A>T p.Gln472His Missense 11/30 - 197
4-55972974-T-C c.1416A>G p.Gln472Gln Synonymous 11/30 - 1
4-55972975-T-C c.1415A>G p.Gln472Arg Missense 11/30 - 1
4-55972999-G-A c.1413-22C>T - IntronicSNV - 10/29 1
4-55973937-C-A c.1379G>T p.Trp460Leu Missense 10/30 - 1
4-55973979-GT-GA c.1336delinsT p.Thr446Ser Missense 10/30 - 2
4-55973991-G-A c.1325C>T p.Thr442Met Missense 10/30 - 1
4-55974018-T-C c.1298A>G p.Asp433Gly Missense 10/30 - 1
4-55974036-G-T c.1280C>A p.Ser427Tyr Missense 10/30 - 1
4-55974048-A-T c.1268T>A p.Ile423Asn Missense 10/30 - 1
4-55974054-G-A c.1262C>T p.Pro421Leu Missense 10/30 - 1
4-55974095-T-C c.1256-35A>G - IntronicSNV - 9/29 1
4-55974275-C-T c.1256-215G>A - IntronicSNV - 9/29 1
4-55974290-C-A c.1256-230G>T - IntronicSNV - 9/29 1
4-55974290-C-G c.1256-230G>C - IntronicSNV - 9/29 1
4-55974290-C-T c.1256-230G>A - IntronicSNV - 9/29 1
4-55974391-A-G c.1256-331T>C - IntronicSNV - 9/29 1
4-55974536-A-G c.1256-476T>C - IntronicSNV - 9/29 1
4-55975705-G-A c.1255+865C>T - IntronicSNV - 9/29 1
4-55975719-A-G c.1255+851T>C - IntronicSNV - 9/29 2
4-55976168-C-T c.1255+402G>A - IntronicSNV - 9/29 6
4-55976451-G-A c.1255+119C>T - IntronicSNV - 9/29 5
4-55976570-C-G c.1255G>C p.Val419Leu Missense 9/30 - 1
4-55976606-TCCT-T c.1219_1221del p.Glu407del InFrameDeletion 9/30 - 1
4-55976619-A-C c.1206T>G p.Asn402Lys Missense 9/30 - 1
4-55976619-A-T c.1206T>A p.Asn402Lys Missense 9/30 - 1
4-55976640-ATT-CAA c.1183_1185delinsTTG p.Asn395Leu Missense 9/30 - 1
4-55976650-T-G c.1175A>C p.Asp392Ala Missense 9/30 - 1
4-55976651-C-T c.1174G>A p.Asp392Asn Missense 9/30 - 3
4-55976653-CT-GC c.1171_1172delinsGC p.Arg391Ala Missense 9/30 - 1
4-55976673-C-T c.1152G>A p.Thr384Thr Synonymous 9/30 - 1
4-55976678-G-T c.1147C>A p.Leu383Met Missense 9/30 - 1
4-55976687-C-G c.1138G>C p.Gly380Arg Missense 9/30 - 3
4-55976687-C-T c.1138G>A p.Gly380Arg Missense 9/30 - 3
4-55976701-T-C c.1124A>G p.His375Arg Missense 9/30 - 1
4-55976703-ATT-CAA c.1120_1122delinsTTG p.Asn374Leu Missense 9/30 - 1
4-55976707-G-A c.1118C>T p.Ser373Phe Missense 9/30 - 1
4-55976709-C-G c.1116G>C p.Glu372Asp Missense 9/30 - 1
4-55976709-C-T c.1116G>A p.Glu372Glu Synonymous 9/30 - 1
4-55976710-T-C c.1115A>G p.Glu372Gly Missense 9/30 - 1
4-55976714-G-T c.1111C>A p.Leu371Ile Missense 9/30 - 1
4-55976725-T-G c.1100A>C p.Asn367Thr Missense 9/30 - 1
4-55976727-T-A c.1098A>T p.Lys366Asn Missense 9/30 - 2
4-55976727-T-G c.1098A>C p.Lys366Asn Missense 9/30 - 2
4-55976729-T-C c.1096A>G p.Lys366Glu Missense 9/30 - 1
4-55976739-A-G c.1092-6T>C - IntronicSNV - 8/29 1
4-55976843-A-T c.1069T>A p.Tyr357Asn Missense 8/30 - 1
4-55976854-T-C c.1058A>G p.Lys353Arg Missense 8/30 - 1
4-55976857-G-A c.1055C>T p.Ala352Val Missense 8/30 - 2
4-55976857-G-C c.1055C>G p.Ala352Gly Missense 8/30 - 1
4-55976870-C-G c.1042G>C p.Val348Leu Missense 8/30 - 1
4-55976872-C-A c.1040G>T p.Arg347Leu Missense 8/30 - 1
4-55976872-C-G c.1040G>C p.Arg347Pro Missense 8/30 - 1
4-55976872-C-T c.1040G>A p.Arg347His Missense 8/30 - 3
4-55976873-G-A c.1039C>T p.Arg347Cys Missense 8/30 - 2
4-55976878-C-A c.1034G>T p.Gly345Val Missense 8/30 - 1
4-55976881-A-C c.1031T>G p.Val344Gly Missense 8/30 - 1
4-55976919-A-T c.993T>A p.Ala331Ala Synonymous 8/30 - 1
4-55976929-G-T c.983C>A p.Pro328His Missense 8/30 - 1
4-55977376-C-T c.977-441G>A - IntronicSNV - 7/29 5
4-55977800-A-G c.977-865T>C - IntronicSNV - 7/29 14
4-55977961-C-T c.977-1026G>A - IntronicSNV - 7/29 1
4-55978160-T-C c.977-1225A>G - IntronicSNV - 7/29 2
4-55978210-C-T c.976+1261G>A - IntronicSNV - 7/29 14
4-55979070-C-T c.976+401G>A - IntronicSNV - 7/29 8
4-55979493-GTT-CAA c.952_954delinsTTG p.Asn318Leu Missense 7/30 - 1
4-55979503-G-A c.944C>T p.Thr315Ile Missense 7/30 - 93
4-55979503-GT-CT c.944delinsG p.Thr315Ser Missense 7/30 - 2
4-55979504-T-C c.943A>G p.Thr315Ala Missense 7/30 - 2
4-55979507-T-A c.940A>T p.Met314Leu Missense 7/30 - 1
4-55979507-T-G c.940A>C p.Met314Leu Missense 7/30 - 1
4-55979509-A-T c.938T>A p.Leu313Gln Missense 7/30 - 1
4-55979524-G-A c.923C>T p.Ala308Val Missense 7/30 - 1
4-55979552-G-A c.895C>T p.Arg299Trp Missense 7/30 - 1
4-55979558-C-A c.889G>T p.Val297Leu Missense 7/30 - 93
4-55979558-C-T c.889G>A p.Val297Ile Missense 7/30 - 119
4-55979566-A-G c.881T>C p.Ile294Thr Missense 7/30 - 1
4-55979579-T-C c.868A>G p.Ser290Gly Missense 7/30 - 1
4-55979591-T-A c.856A>T p.Lys286* Nonsense 7/30 - 1
4-55979602-C-T c.845G>A p.Gly282Glu Missense 7/30 - 1
4-55979608-T-C c.839A>G p.Gln280Arg Missense 7/30 - 1
4-55979619-G-C c.828C>G p.Asp276Glu Missense 7/30 - 1
4-55979619-G-T c.828C>A p.Asp276Glu Missense 7/30 - 1
4-55979620-T-C c.827A>G p.Asp276Gly Missense 7/30 - 2
4-55979623-C-A c.824G>T p.Arg275Leu Missense 7/30 - 2
4-55979623-C-T c.824G>A p.Arg275Gln Missense 7/30 - 1
4-55979624-G-A c.823C>T p.Arg275* Nonsense 7/30 - 1
4-55979630-C-T c.817G>A p.Val273Ile Missense 7/30 - 1
4-55979637-C-A c.810G>T p.Lys270Asn Missense 7/30 - 1
4-55979637-C-G c.810G>C p.Lys270Asn Missense 7/30 - 1
4-55979643-CTG-TGT c.802_804delinsACA p.Gln268Thr Missense 7/30 - 1
4-55979648-G-A c.799C>T p.His267Tyr Missense 7/30 - 1
4-55980239-C-T c.798+54G>A - IntronicSNV - 6/29 27
4-55980296-C-T c.795G>A p.Ser265Ser Synonymous 6/30 - 1
4-55980297-G-A c.794C>T p.Ser265Leu Missense 6/30 - 3
4-55980304-G-T c.787C>A p.Pro263Thr Missense 6/30 - 1
4-55980310-C-A c.781G>T p.Glu261* Nonsense 6/30 - 1
4-55980321-T-G c.770A>C p.Asp257Ala Missense 6/30 - 1
4-55980324-A-G c.767T>C p.Ile256Thr Missense 6/30 - 1
4-55980341-AGT-CAA c.748_750delinsTTG p.Thr250Leu Missense 6/30 - 1
4-55980345-C-A c.746G>T p.Arg249Ile Missense 6/30 - 1
4-55980345-C-T c.746G>A p.Arg249Lys Missense 6/30 - 1
4-55980346-T-C c.745A>G p.Arg249Gly Missense 6/30 - 1
4-55980348-G-C c.743C>G p.Ala248Gly Missense 6/30 - 2
4-55980354-C-G c.737G>C p.Cys246Ser Missense 6/30 - 1
4-55980355-A-T c.736T>A p.Cys246Ser Missense 6/30 - 1
4-55980356-ATT-CAA c.733_735delinsTTG p.Asn245Leu Missense 6/30 - 1
4-55980369-TT-GC c.721_722delinsGC p.Lys241Ala Missense 6/30 - 1
4-55980375-C-T c.716G>A p.Gly239Glu Missense 6/30 - 1
4-55980376-C-T c.715G>A p.Gly239Arg Missense 6/30 - 1
4-55980379-C-T c.712G>A p.Val238Ile Missense 6/30 - 1
4-55980381-G-A c.710C>T p.Ser237Phe Missense 6/30 - 2
4-55980388-C-G c.703G>C p.Glu235Gln Missense 6/30 - 1
4-55980404-ACT-TGA c.685_687delinsTCA p.Ser229Ser Nonsense 6/30 - 1
4-55980405-CT-GC c.685_686delinsGC p.Ser229Ala Missense 6/30 - 1
4-55980415-C-T c.676G>A p.Val226Met Missense 6/30 - 1
4-55980418-C-T c.673G>A p.Asp225Asn Missense 6/30 - 1
4-55980433-C-A c.659-1G>T - IntronicSNV - 5/29 1
4-55980456-C-A c.659-24G>T - IntronicSNV - 5/29 13
4-55980456-C-T c.659-24G>A - IntronicSNV - 5/29 13
4-55981037-T-G c.658+4A>C - IntronicSNV - 5/29 1
4-55981040-C-T c.658+1G>A - IntronicSNV - 5/29 1
4-55981049-A-C c.650T>G p.Val217Gly Missense 5/30 - 1
4-55981064-A-G c.635T>C p.Ile212Thr Missense 5/30 - 1
4-55981085-T-C c.614A>G p.Asn205Ser Missense 5/30 - 1
4-55981088-A-T c.611T>A p.Ile204Asn Missense 5/30 - 1
4-55981091-T-C c.608A>G p.Lys203Arg Missense 5/30 - 1
4-55981097-T-G c.602A>C p.Glu201Ala Missense 5/30 - 1
4-55981098-C-T c.601G>A p.Glu201Lys Missense 5/30 - 1
4-55981154-TT-GC c.544_545delinsGC p.Lys182Ala Missense 5/30 - 1
4-55981158-T-A c.541A>T p.Ser181Cys Missense 5/30 - 1
4-55981160-T-G c.539A>C p.Asp180Ala Missense 5/30 - 1
4-55981181-T-G c.518A>C p.Asp173Ala Missense 5/30 - 1
4-55981185-G-A c.514C>T p.Pro172Ser Missense 5/30 - 1
4-55981185-G-C c.514C>G p.Pro172Ala Missense 5/30 - 1
4-55981187-A-G c.512T>C p.Val171Ala Missense 5/30 - 1
4-55981192-TCT-TGT c.506delinsC p.Arg169Thr Missense 5/30 - 1
4-55981207-T-C c.492A>G p.Arg164Arg Synonymous 5/30 - 1
4-55981209-T-G c.490A>C p.Arg164Arg Synonymous 5/30 - 1
4-55981208-CT-GA c.490_491delinsTC p.Arg164Ser Missense 5/30 - 1
4-55981208-CT-GC c.490_491delinsGC p.Arg164Ala Missense 5/30 - 1
4-55981210-C-T c.490-1G>A - IntronicSNV - 4/29 2
4-55981453-A-G c.484T>C p.Cys162Arg Missense 4/30 - 1
4-55981463-G-C c.474C>G p.Asn158Lys Missense 4/30 - 1
4-55981463-G-T c.474C>A p.Asn158Lys Missense 4/30 - 1
4-55981471-T-C c.466A>G p.Asn156Asp Missense 4/30 - 1
4-55981488-C-G c.449G>C p.Cys150Ser Missense 4/30 - 1
4-55981489-A-T c.448T>A p.Cys150Ser Missense 4/30 - 1
4-55981502-AGT-GAG c.433_435delinsCTC p.Thr145Leu Missense 4/30 - 1
4-55981504-T-C c.433A>G p.Thr145Ala Missense 4/30 - 1
4-55981531-C-T c.406G>A p.Val136Met Missense 4/30 - 3
4-55981539-TG-AG c.398delinsT p.His133Leu Missense 4/30 - 1
4-55981546-C-T c.391G>A p.Asp131Asn Missense 4/30 - 1
4-55981567-G-A c.370C>T p.Pro124Ser Missense 4/30 - 1
4-55981578-T-C c.359A>G p.Asp120Gly Missense 4/30 - 1
4-55981976-C-T c.359-398G>A - IntronicSNV - 3/29 1
4-55982752-C-T c.359-1174G>A - IntronicSNV - 3/29 15
4-55984771-C-A c.358G>T p.Asp120Tyr Missense 3/30 - 1
4-55984774-G-T c.355C>A p.Gln119Lys Missense 3/30 - 1
4-55984776-A-G c.353T>C p.Val118Ala Missense 3/30 - 1
4-55984795-A-C c.334T>G p.Ser112Ala Missense 3/30 - 1
4-55984796-G-A c.333C>T p.Ala111Ala Synonymous 3/30 - 1
4-55984796-G-C c.333C>G p.Ala111Ala Synonymous 3/30 - 1
4-55984796-G-T c.333C>A p.Ala111Ala Synonymous 3/30 - 1
4-55984803-T-G c.326A>C p.Asp109Ala Missense 3/30 - 1
4-55984804-C-T c.325G>A p.Asp109Asn Missense 3/30 - 2
4-55984813-G-A c.316C>T p.Arg106Trp Missense 3/30 - 1
4-55984826-G-T c.303C>A p.Tyr101* Nonsense 3/30 - 1
4-55984836-GT-GG c.292delinsC p.Thr98Pro Missense 3/30 - 51
4-55984838-G-A c.291C>T p.Asp97Asp Synonymous 3/30 - 1
4-55984847-G-A c.282C>T p.Ile94Ile Synonymous 3/30 - 1
4-55984847-G-C c.282C>G p.Ile94Met Missense 3/30 - 1
4-55984862-TGT-GAC c.265_267delinsGTC p.Thr89Val Missense 3/30 - 1
4-55984862-TTGT-T c.266_268del p.Thr89del InFrameDeletion 3/30 - 1
4-55984864-T-C c.265A>G p.Thr89Ala Missense 3/30 - 1
4-55984865-G-A c.264C>T p.Leu88Leu Synonymous 3/30 - 1
4-55984865-G-C c.264C>G p.Leu88Leu Synonymous 3/30 - 1
4-55984865-G-T c.264C>A p.Leu88Leu Synonymous 3/30 - 1
4-55984869-GT-GG c.259delinsC p.Thr87Pro Missense 3/30 - 1
4-55984878-A-T c.251T>A p.Phe84Tyr Missense 3/30 - 1
4-55984884-C-T c.245G>A p.Gly82Asp Missense 3/30 - 2
4-55984885-C-T c.244G>A p.Gly82Ser Missense 3/30 - 1
4-55984887-TC-AC c.242delinsT p.Asp81Val Missense 3/30 - 1
4-55984889-G-C c.240C>G p.Ser80Arg Missense 3/30 - 1
4-55984889-G-T c.240C>A p.Ser80Arg Missense 3/30 - 1
4-55984891-T-G c.238A>C p.Ser80Arg Missense 3/30 - 1
4-55984892-GCA-GAG c.235_236delinsCT p.Cys79Leu Missense 3/30 - 1
4-55984893-CA-GC c.235_236delinsGC p.Cys79Ala Missense 3/30 - 1
4-55984905-T-G c.224A>C p.Glu75Ala Missense 3/30 - 1
4-55984907-CAC-TTT c.220_222delinsAAA p.Val74Lys Missense 3/30 - 1
4-55984911-CT-GC c.217_218delinsGC p.Arg73Ala Missense 3/30 - 3
4-55984929-T-A c.200A>T p.Gln67Leu Missense 3/30 - 5
4-55984937-GGG-AAG c.191_192delinsTT p.Pro64Leu Missense 3/30 - 2
4-55984938-G-T c.191C>A p.Pro64His Missense 3/30 - 1
4-55984946-C-T c.183G>A p.Trp61* Nonsense 3/30 - 2
4-55984949-G-C c.180C>G p.Asp60Glu Missense 3/30 - 1
4-55984949-G-T c.180C>A p.Asp60Glu Missense 3/30 - 1
4-55984951-C-T c.178G>A p.Asp60Asn Missense 3/30 - 1
4-55984955-G-C c.174C>G p.Asp58Glu Missense 3/30 - 1
4-55984955-G-T c.174C>A p.Asp58Glu Missense 3/30 - 1
4-55984958-CCT-CAT c.170delinsT p.Arg57Met Missense 3/30 - 1
4-55984959-C-G c.170G>C p.Arg57Thr Missense 3/30 - 2
4-55984959-C-T c.170G>A p.Arg57Lys Missense 3/30 - 2
4-55984961-CTG-GAC c.166_168delinsGTC p.Gln56Val Missense 3/30 - 1
4-55984965-C-T c.164G>A p.Gly55Glu Missense 3/30 - 1
4-55984970-G-A c.162-3C>T - IntronicSNV - 2/29 1
4-55985815-C-T c.162-848G>A - IntronicSNV - 2/29 8
4-55986238-T-C c.161+1026A>G - IntronicSNV - 2/29 12
4-55986562-G-A c.161+702C>T - IntronicSNV - 2/29 13
4-55987002-G-T c.161+262C>A - IntronicSNV - 2/29 1
4-55987019-G-GGT c.161+244_161+245insAC - IntronicInsertion - 2/29 1
4-55987185-G-A c.161+79C>T - IntronicSNV - 2/29 1
4-55987223-T-G c.161+41A>C - IntronicSNV - 2/29 1
4-55987263-C-A c.161+1G>T - IntronicSNV - 2/29 1
4-55987266-GCA-GAG c.157_158delinsCT p.Cys53Leu Missense 2/30 - 1
4-55987267-CA-GC c.157_158delinsGC p.Cys53Ala Missense 2/30 - 1
4-55987270-G-C c.155C>G p.Thr52Ser Missense 2/30 - 1
4-55987271-T-A c.154A>T p.Thr52Ser Missense 2/30 - 1
4-55987282-GT-CA c.142_143delinsTG p.Thr48Cys Missense 2/30 - 1
4-55987283-T-C c.142A>G p.Thr48Ala Missense 2/30 - 1
4-55987284-TGT-GAC c.139_141delinsGTC p.Thr47Val Missense 2/30 - 110
4-55987294-TT-GC c.130_131delinsGC p.Lys44Ala Missense 2/30 - 9
4-55987297-AT-GC c.127_128delinsGC p.Ile43Ala Missense 2/30 - 4
4-55987298-T-C c.127A>G p.Ile43Val Missense 2/30 - 1
4-55987312-TT-GC c.112_113delinsGC p.Lys38Ala Missense 2/30 - 1
4-55987321-C-T c.104G>A p.Ser35Asn Missense 2/30 - 2
4-55987324-AG-AA c.100delinsT p.Leu34Phe Missense 2/30 - 1
4-55987333-A-G c.92T>C p.Leu31Pro Missense 2/30 - 1
4-55987334-G-C c.91C>G p.Leu31Val Missense 2/30 - 1
4-55987336-TC-TT c.88delinsA p.Asp30Asn Missense 2/30 - 1
4-55987348-C-T c.77G>A p.Ser26Asn Missense 2/30 - 1
4-55987351-G-A c.74C>T p.Pro25Leu Missense 2/30 - 1
4-55987351-G-C c.74C>G p.Pro25Arg Missense 2/30 - 2
4-55987351-GG-TT c.73_74delinsAA p.Pro25Asn Missense 2/30 - 1
4-55987357-C-G c.68G>C p.Gly23Ala Missense 2/30 - 1
4-55987393-C-G c.68-36G>C - IntronicSNV - 1/29 1
4-55987777-G-A c.68-420C>T - IntronicSNV - 1/29 1
4-55987777-G-C c.68-420C>G - IntronicSNV - 1/29 1
4-55987777-G-T c.68-420C>A - IntronicSNV - 1/29 1
4-55987778-G-A c.68-421C>T - IntronicSNV - 1/29 1
4-55989675-T-A c.67+1719A>T - IntronicSNV - 1/29 1
4-55990353-G-A c.67+1041C>T - IntronicSNV - 1/29 1
4-55991042-G-C c.67+352C>G - IntronicSNV - 1/29 12
4-55991042-G-T c.67+352C>A - IntronicSNV - 1/29 12
4-55991395-C-T c.66G>A p.Val22Val Synonymous 1/30 - 1
4-55991399-GA-AA c.62delinsT p.Ser21Phe Missense 1/30 - 1
4-55991401-G-A c.60C>T p.Ala20Ala Synonymous 1/30 - 1
4-55991401-G-C c.60C>G p.Ala20Ala Synonymous 1/30 - 1
4-55991401-G-T c.60C>A p.Ala20Ala Synonymous 1/30 - 1
4-55991402-GC-TT c.58_59delinsAA p.Ala20Asn Missense 1/30 - 1
4-55991403-C-T c.58G>A p.Ala20Thr Missense 1/30 - 2
4-55991405-G-T c.56C>A p.Ala19Asp Missense 1/30 - 1
4-55991407-CCG-AGC c.52_54delinsGCT p.Arg18Ala Missense 1/30 - 1
4-55991411-G-T c.50C>A p.Thr17Asn Missense 1/30 - 4
4-55991413-CTC-TGT c.46_48delinsACA p.Glu16Thr Missense 1/30 - 1
4-55991414-T-G c.47A>C p.Glu16Ala Missense 1/30 - 1
4-55991419-G-A c.42C>T p.Cys14Cys Synonymous 1/30 - 1
4-55991423-AG-GC c.37_38delinsGC p.Leu13Ala Missense 1/30 - 7
4-55991426-C-A c.35G>T p.Trp12Leu Missense 1/30 - 1
4-55991426-C-G c.35G>C p.Trp12Ser Missense 1/30 - 1
4-55991426-C-T c.35G>A p.Trp12* Nonsense 1/30 - 2
4-55991431-G-A c.30C>T p.Ala10Ala Synonymous 1/30 - 1
4-55991431-G-C c.30C>G p.Ala10Ala Synonymous 1/30 - 1
4-55991431-GG-AG c.30delinsT p.Ala10Ala Missense 1/30 - 1
4-55991431-G-T c.30C>A p.Ala10Ala Synonymous 1/30 - 1
4-55991432-GC-CG c.28_29delinsCG p.Ala10Arg Missense 1/30 - 1
4-55991449-C-T c.12G>A p.Lys4Lys Synonymous 1/30 - 1
4-55991452-G-A c.9C>T p.Ser3Ser Synonymous 1/30 - 1
4-55991452-TG-T c.9del p.Ser3Argfs*74 Frameshift 1/30 - 1
4-55991455-C-T c.6G>A p.Gln2Gln Synonymous 1/30 - 1
4-55991461-C-A c.-1G>T - 5-UTRSNV 1/30 - 2
4-55991731-T-C c.-271A>G - 5-UTRSNV 1/30 - 27