All transcript variants in gene KCTD19

Information The variants shown are described using the NM_001100915.1 transcript reference sequence.

165 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-2C>T r.(=) p.(=) g.67360612G>A Copied from the Exome Variant Server KCTD19_000165 2/11690 1/8086 1/3604
?/? c.1A>C r.? p.? g.67360610T>G Copied from the Exome Variant Server KCTD19_000164 13/11694 13/8088 0/3606
?/? c.3+11C>G r.(=) p.(=) g.67360597G>C Copied from the Exome Variant Server KCTD19_000163 1/11718 1/8102 0/3616
?/? c.3+41G>T r.(=) p.(=) g.67360567C>A Copied from the Exome Variant Server KCTD19_000162 2/11740 0/8118 2/3622
?/? c.4-28G>A r.(=) p.(=) g.67354816C>T Copied from the Exome Variant Server KCTD19_000161 2/11870 2/8184 0/3686
?/? c.42G>C r.(?) p.(Leu14Phe) g.67354750C>G Copied from the Exome Variant Server KCTD19_000160 1/11942 1/8220 0/3722
?/? c.68A>G r.(?) p.(His23Arg) g.67354724T>C Copied from the Exome Variant Server KCTD19_000159 1/11988 1/8232 0/3756
?/? c.122A>T r.(?) p.(Lys41Ile) g.67354670T>A Copied from the Exome Variant Server KCTD19_000158 9/12060 9/8248 0/3812
?/? c.168C>T r.(=) p.(=) g.67354624G>A Copied from the Exome Variant Server KCTD19_000157 31/12150 0/8282 31/3868
?/? c.195C>T r.(=) p.(=) g.67354597G>A Copied from the Exome Variant Server KCTD19_000156 1/12224 1/8310 0/3914
?/? c.230_232del r.(?) p.(Phe77del) g.67354560_67354562del Copied from the Exome Variant Server KCTD19_000155 14/11766 4/7968 10/3798
?/? c.258G>A r.(=) p.(=) g.67354534C>T Copied from the Exome Variant Server KCTD19_000154 1/12334 1/8346 0/3988
?/? c.301-50A>G r.(=) p.(=) g.67338524T>C Copied from the Exome Variant Server KCTD19_000153 3/12066 0/8252 3/3814
?/? c.301-23T>C r.(=) p.(=) g.67338497A>G Copied from the Exome Variant Server KCTD19_000152 1537/12174 281/8288 1256/3886
?/? c.301-2del r.spl? p.? g.67338476del Copied from the Exome Variant Server KCTD19_000151 1/11742 1/7960 0/3782
?/? c.340G>A r.(?) p.(Val114Ile) g.67338435C>T Copied from the Exome Variant Server KCTD19_000150 1/12368 1/8366 0/4002
?/? c.343C>T r.(?) p.(Arg115Trp) g.67338432G>A Copied from the Exome Variant Server KCTD19_000149 1/12378 1/8366 0/4012
?/? c.396A>G r.(=) p.(=) g.67338379T>C Copied from the Exome Variant Server KCTD19_000148 6/12228 6/8296 0/3932
?/? c.406A>G r.(?) p.(Ile136Val) g.67338369T>C Copied from the Exome Variant Server KCTD19_000147 1/12210 1/8302 0/3908
?/? c.418T>A r.(?) p.(Ser140Thr) g.67338357A>T Copied from the Exome Variant Server KCTD19_000146 86/12128 80/8272 6/3856
?/? c.420A>G r.(=) p.(=) g.67338355T>C Copied from the Exome Variant Server KCTD19_000145 1/12106 1/8266 0/3840
?/? c.451+3del r.spl? p.? g.67338321del Copied from the Exome Variant Server KCTD19_000144 2/11584 0/7908 2/3676
?/? c.451+24C>A r.(=) p.(=) g.67338300G>T Copied from the Exome Variant Server KCTD19_000143 1/12136 1/8276 0/3860
?/? c.452-49A>T r.(=) p.(=) g.67337289T>A Copied from the Exome Variant Server KCTD19_000142 1/12188 0/8282 1/3906
?/? c.452-13T>C r.(=) p.(=) g.67337253A>G Copied from the Exome Variant Server KCTD19_000141 30/12366 0/8346 30/4020
?/? c.495G>C r.(=) p.(=) g.67337197C>G Copied from the Exome Variant Server KCTD19_000140 1/12522 0/8424 1/4098
?/? c.618C>T r.(=) p.(=) g.67337074G>A Copied from the Exome Variant Server KCTD19_000139 1/12498 1/8364 0/4134
?/? c.619G>A r.(?) p.(Glu207Lys) g.67337073C>T Copied from the Exome Variant Server KCTD19_000138 1/12488 1/8362 0/4126
?/? c.634C>T r.(?) p.(Arg212Cys) g.67337058G>A Copied from the Exome Variant Server KCTD19_000137 1/12354 0/8324 1/4030
?/? c.635G>A r.(?) p.(Arg212His) g.67337057C>T Copied from the Exome Variant Server KCTD19_000136 1/12290 1/8300 0/3990
?/? c.643+7G>A r.(=) p.(=) g.67337042C>T Copied from the Exome Variant Server KCTD19_000135 1/12162 1/8256 0/3906
?/? c.643+15C>T r.(=) p.(=) g.67337034G>A Copied from the Exome Variant Server KCTD19_000134 1/12024 1/8216 0/3808
?/? c.643+51C>A r.(=) p.(=) g.67336998G>T Copied from the Exome Variant Server KCTD19_000133 1/11928 1/8142 0/3786
?/? c.644T>C r.(?) p.(Val215Ala) g.67335825A>G Copied from the Exome Variant Server KCTD19_000132 1/11840 0/8178 1/3662
?/? c.682A>G r.(?) p.(Asn228Asp) g.67335787T>C Copied from the Exome Variant Server KCTD19_000131 1/11856 0/8178 1/3678
?/? c.735T>C r.(=) p.(=) g.67335734A>G Copied from the Exome Variant Server KCTD19_000130 1/12038 0/8252 1/3786
?/? c.766A>G r.(?) p.(Met256Val) g.67335703T>C Copied from the Exome Variant Server KCTD19_000129 1/12100 1/8264 0/3836
?/? c.775+19T>C r.(=) p.(=) g.67335675A>G Copied from the Exome Variant Server KCTD19_000128 1/12114 1/8264 0/3850
?/? c.775+43C>T r.(=) p.(=) g.67335651G>A Copied from the Exome Variant Server KCTD19_000127 1/12086 1/8256 0/3830
?/? c.776-32_776-31insG r.(=) p.(=) g.67333507_67333508insC Copied from the Exome Variant Server KCTD19_000126 6/11480 6/7818 0/3662
?/? c.776-25A>C r.(=) p.(=) g.67333501T>G Copied from the Exome Variant Server KCTD19_000125 1/12164 1/8262 0/3902
?/? c.788C>T r.(?) p.(Pro263Leu) g.67333464G>A Copied from the Exome Variant Server KCTD19_000124 1/12030 1/8232 0/3798
?/? c.813C>T r.(=) p.(=) g.67333439G>A Copied from the Exome Variant Server KCTD19_000123 1/11952 1/8206 0/3746
?/? c.814G>A r.(?) p.(Gly272Arg) g.67333438C>T Copied from the Exome Variant Server KCTD19_000122 2/11978 2/8214 0/3764
?/? c.818A>C r.(?) p.(Lys273Thr) g.67333434T>G Copied from the Exome Variant Server KCTD19_000121 1/11998 0/8224 1/3774
?/? c.837C>T r.(=) p.(=) g.67333415G>A Copied from the Exome Variant Server KCTD19_000120 1/12158 1/8268 0/3890
?/? c.882G>A r.(=) p.(=) g.67333370C>T Copied from the Exome Variant Server KCTD19_000119 1/12484 1/8392 0/4092
?/? c.902C>T r.(?) p.(Ala301Val) g.67333350G>A Copied from the Exome Variant Server KCTD19_000118 1/12544 0/8412 1/4132
?/? c.917G>A r.(?) p.(Arg306His) g.67333335C>T Copied from the Exome Variant Server KCTD19_000117 1/12604 1/8428 0/4176
?/? c.936C>T r.(=) p.(=) g.67333316G>A Copied from the Exome Variant Server KCTD19_000116 4/12670 2/8448 2/4222
?/? c.944G>A r.(?) p.(Arg315Gln) g.67333308C>T Copied from the Exome Variant Server KCTD19_000115 1/12698 1/8462 0/4236
?/? c.986+49C>T r.(=) p.(=) g.67333217G>A Copied from the Exome Variant Server KCTD19_000113 1/12488 1/8390 0/4098
?/? c.987-4G>C r.spl? p.? g.67331570C>G Copied from the Exome Variant Server KCTD19_000111 1/12142 1/8254 0/3888
?/? c.1052C>T r.(?) p.(Ala351Val) g.67331501G>A Copied from the Exome Variant Server KCTD19_000109 1/12108 1/8262 0/3846
?/? c.1077C>G r.(=) p.(=) g.67331476G>C Copied from the Exome Variant Server KCTD19_000114 1/12084 1/8262 0/3822
?/? c.1081G>A r.(?) p.(Glu361Lys) g.67331472C>T Copied from the Exome Variant Server KCTD19_000112 1/12066 0/8256 1/3810
?/? c.1090A>G r.(?) p.(Lys364Glu) g.67331463T>C Copied from the Exome Variant Server KCTD19_000110 1/12044 1/8256 0/3788
?/? c.1093G>A r.(?) p.(Val365Ile) g.67331460C>T Copied from the Exome Variant Server KCTD19_000108 1/12052 0/8260 1/3792
?/? c.1148-46C>T r.(=) p.(=) g.67330208G>A Copied from the Exome Variant Server KCTD19_000107 42/12246 0/8310 42/3936
?/? c.1148-45C>T r.(=) p.(=) g.67330207G>A Copied from the Exome Variant Server KCTD19_000106 4/12240 2/8308 2/3932
?/? c.1148-33T>C r.(=) p.(=) g.67330195A>G Copied from the Exome Variant Server KCTD19_000105 1/12286 1/8322 0/3964
?/? c.1148-23T>C r.(=) p.(=) g.67330185A>G Copied from the Exome Variant Server KCTD19_000104 1/12328 1/8338 0/3990
?/? c.1148-10A>T r.(=) p.(=) g.67330172T>A Copied from the Exome Variant Server KCTD19_000103 1/12378 1/8366 0/4012
?/? c.1152G>A r.(=) p.(=) g.67330158C>T Copied from the Exome Variant Server KCTD19_000102 1/12456 1/8396 0/4060
?/? c.1171G>C r.(?) p.(Val391Leu) g.67330139C>G Copied from the Exome Variant Server KCTD19_000101 1/12548 0/8418 1/4130
?/? c.1203T>C r.(=) p.(=) g.67330107A>G Copied from the Exome Variant Server KCTD19_000100 1/12648 1/8440 0/4208
?/? c.1221C>T r.(=) p.(=) g.67330089G>A Copied from the Exome Variant Server KCTD19_000099 6/12704 5/8454 1/4250
?/? c.1248+8C>T r.(=) p.(=) g.67330054G>A Copied from the Exome Variant Server KCTD19_000098 2/12692 2/8444 0/4248
?/? c.1248+14C>T r.(=) p.(=) g.67330048G>A Copied from the Exome Variant Server KCTD19_000097 1/12692 1/8448 0/4244
?/? c.1248+15G>A r.(=) p.(=) g.67330047C>T Copied from the Exome Variant Server KCTD19_000096 1/12684 1/8446 0/4238
?/? c.1248+31A>G r.(=) p.(=) g.67330031T>C Copied from the Exome Variant Server KCTD19_000095 2/12624 2/8430 0/4194
?/? c.1248+32T>G r.(=) p.(=) g.67330030A>C Copied from the Exome Variant Server KCTD19_000094 1/12618 1/8426 0/4192
?/? c.1249-19G>A r.(=) p.(=) g.67329327C>T Copied from the Exome Variant Server KCTD19_000093 1085/12180 13/8278 1072/3902
?/? c.1281G>A r.(=) p.(=) g.67329276C>T Copied from the Exome Variant Server KCTD19_000092 1/12212 0/8288 1/3924
?/? c.1300C>A r.(?) p.(Gln434Lys) g.67329257G>T Copied from the Exome Variant Server KCTD19_000091 1/12212 1/8294 0/3918
?/? c.1311C>A r.(=) p.(=) g.67329246G>T Copied from the Exome Variant Server KCTD19_000090 1/12210 1/8290 0/3920
?/? c.1317C>T r.(=) p.(=) g.67329240G>A Copied from the Exome Variant Server KCTD19_000089 1/12206 1/8296 0/3910
?/? c.1321del r.(?) p.(Asp441Metfs*12) g.67329236del Copied from the Exome Variant Server KCTD19_000088 661/11714 549/7940 112/3774
?/? c.1332G>A r.(?) p.(Met444Ile) g.67329225C>T Copied from the Exome Variant Server KCTD19_000087 2/12228 2/8304 0/3924
?/? c.1337G>A r.(?) p.(Arg446Gln) g.67329220C>T Copied from the Exome Variant Server KCTD19_000086 2/12204 0/8296 2/3908
?/? c.1391+29A>C r.(=) p.(=) g.67329137T>G Copied from the Exome Variant Server KCTD19_000085 89/12102 81/8270 8/3832
?/? c.1392-57C>T r.(=) p.(=) g.67329016G>A Copied from the Exome Variant Server KCTD19_000084 1/4566 1/3182 0/1384
?/? c.1392-50C>T r.(=) p.(=) g.67329009G>A Copied from the Exome Variant Server KCTD19_000083 1/12246 1/8288 0/3958
?/? c.1460A>C r.(?) p.(Gln487Pro) g.67328891T>G Copied from the Exome Variant Server KCTD19_000082 6/12082 5/8236 1/3846
?/? c.1475+2_1475+5del r.spl? p.? g.67328871_67328874del Copied from the Exome Variant Server KCTD19_000081 84/11502 59/7862 25/3640
?/? c.1475+19G>A r.(=) p.(=) g.67328857C>T Copied from the Exome Variant Server KCTD19_000080 1/11980 0/8214 1/3766
?/? c.1475+25_1475+26del r.(=) p.(=) g.67328850_67328851del Copied from the Exome Variant Server KCTD19_000079 29/11490 26/7870 3/3620
?/? c.1476-34C>G r.(=) p.(=) g.67328631G>C Copied from the Exome Variant Server KCTD19_000078 1/12090 1/8256 0/3834
?/? c.1476-31C>T r.(=) p.(=) g.67328628G>A Copied from the Exome Variant Server KCTD19_000077 36/12096 33/8262 3/3834
?/? c.1511A>C r.(?) p.(Glu504Ala) g.67328562T>G Copied from the Exome Variant Server KCTD19_000076 1/12312 1/8334 0/3978
?/? c.1511_1513del r.(?) p.(Glu504del) g.67328560_67328562del Copied from the Exome Variant Server KCTD19_000075 31/11798 28/7982 3/3816
?/? c.1513G>A r.(?) p.(Ala505Thr) g.67328560C>T Copied from the Exome Variant Server KCTD19_000074 1/12314 0/8334 1/3980
?/? c.1590+21G>A r.(=) p.(=) g.67328462C>T Copied from the Exome Variant Server KCTD19_000073 1/12278 1/8324 0/3954
?/? c.1590+30A>G r.(=) p.(=) g.67328453T>C Copied from the Exome Variant Server KCTD19_000072 2795/12270 620/8320 2175/3950
?/? c.1590+31T>C r.(=) p.(=) g.67328452A>G Copied from the Exome Variant Server KCTD19_000071 1/12272 1/8322 0/3950
?/? c.1590+52G>A r.(=) p.(=) g.67328431C>T Copied from the Exome Variant Server KCTD19_000070 1/5734 0/3982 1/1752
?/? c.1591-52G>A r.(=) p.(=) g.67328126C>T Copied from the Exome Variant Server KCTD19_000069 7/6704 7/4376 0/2328
?/? c.1591-18G>A r.(=) p.(=) g.67328092C>T Copied from the Exome Variant Server KCTD19_000068 1/12476 1/8382 0/4094
?/? c.1611G>T r.(=) p.(=) g.67328054C>A Copied from the Exome Variant Server KCTD19_000067 8/12418 8/8388 0/4030
?/? c.1618G>A r.(?) p.(Glu540Lys) g.67328047C>T Copied from the Exome Variant Server KCTD19_000066 1/12410 0/8388 1/4022
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