Unique variants in gene KLHDC7B

Information The variants shown are described using the NM_138433.3 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.50G>A r.(?) p.(Ser17Asn) g.50986645G>A Copied from the Exome Variant Server KLHDC7B_000001 1/4566 1/3182 0/1384
1 c.52G>A r.(?) p.(Val18Ile) g.50986647G>A Copied from the Exome Variant Server KLHDC7B_000002 93/4566 72/3182 21/1384
1 c.146T>C r.(?) p.(Ile49Thr) g.50986741T>C Copied from the Exome Variant Server KLHDC7B_000003 1/4566 0/3182 1/1384
1 c.276A>G r.(=) p.(=) g.50986871A>G Copied from the Exome Variant Server KLHDC7B_000004 5/11628 5/7830 0/3798
1 c.279C>G r.(?) p.(Asp93Glu) g.50986874C>G Copied from the Exome Variant Server KLHDC7B_000005 2/11628 0/7834 2/3794
1 c.309C>T r.(=) p.(=) g.50986904C>T Copied from the Exome Variant Server KLHDC7B_000006 1/11516 0/7788 1/3728
1 c.335C>T r.(?) p.(Pro112Leu) g.50986930C>T Copied from the Exome Variant Server KLHDC7B_000007 2/11066 0/7458 2/3608
1 c.518C>T r.(?) p.(Thr173Met) g.50987113C>T Copied from the Exome Variant Server KLHDC7B_000008 2/10236 2/7006 0/3230
1 c.539del r.(?) p.(Lys181Serfs*65) g.50987134del Copied from the Exome Variant Server KLHDC7B_000009 7/9850 4/6740 3/3110
1 c.580G>T r.(?) p.(Val194Leu) g.50987175G>T Copied from the Exome Variant Server KLHDC7B_000010 261/8964 127/6286 134/2678
1 c.676G>T r.(?) p.(Val226Leu) g.50987271G>T Copied from the Exome Variant Server KLHDC7B_000011 1/10900 0/7218 1/3682
1 c.692A>G r.(?) p.(Gln231Arg) g.50987287A>G Copied from the Exome Variant Server KLHDC7B_000012 2724/11148 1120/7374 1604/3774
1 c.758T>C r.(?) p.(Val253Ala) g.50987353T>C Copied from the Exome Variant Server KLHDC7B_000013 1/11416 0/7522 1/3894
1 c.777C>G r.(=) p.(=) g.50987372C>G Copied from the Exome Variant Server KLHDC7B_000014 1/11168 0/7400 1/3768
1 c.812_814del r.(?) p.(Leu272del) g.50987407_50987409del Copied from the Exome Variant Server KLHDC7B_000015 25/9944 19/6554 6/3390
1 c.819C>T r.(=) p.(=) g.50987414C>T Copied from the Exome Variant Server KLHDC7B_000016 1/10586 1/6992 0/3594
1 c.828C>T r.(=) p.(=) g.50987423C>T Copied from the Exome Variant Server KLHDC7B_000017 1/10352 0/6808 1/3544
1 c.870C>T r.(=) p.(=) g.50987465C>T Copied from the Exome Variant Server KLHDC7B_000018 5/9978 0/6764 5/3214
1 c.902del r.(?) p.(Gly302Alafs*34) g.50987497del Copied from the Exome Variant Server KLHDC7B_000019 9/9160 9/6284 0/2876
1 c.918G>C r.(?) p.(Glu306Asp) g.50987513G>C Copied from the Exome Variant Server KLHDC7B_000020 1/10302 1/7010 0/3292
1 c.920A>G r.(?) p.(Glu307Gly) g.50987515A>G Copied from the Exome Variant Server KLHDC7B_000021 1/10326 1/7030 0/3296
1 c.929C>T r.(?) p.(Ala310Val) g.50987524C>T Copied from the Exome Variant Server KLHDC7B_000022 1/10238 0/6962 1/3276
1 c.932_933insG r.(?) p.(Ala312Glyfs*276) g.50987527_50987528insG Copied from the Exome Variant Server KLHDC7B_000023 73/9396 46/6408 27/2988
1 c.959C>T r.(?) p.(Ala320Val) g.50987554C>T Copied from the Exome Variant Server KLHDC7B_000024 1/11924 1/7970 0/3954
1 c.997C>T r.(?) p.(Arg333Trp) g.50987592C>T Copied from the Exome Variant Server KLHDC7B_000025 1/12308 0/8204 1/4104
1 c.1091G>T r.(?) p.(Gly364Val) g.50987686G>T Copied from the Exome Variant Server KLHDC7B_000026 1/12740 0/8428 1/4312
1 c.1095C>T r.(=) p.(=) g.50987690C>T Copied from the Exome Variant Server KLHDC7B_000027 36/12750 34/8430 2/4320
1 c.1108G>A r.(?) p.(Val370Ile) g.50987703G>A Copied from the Exome Variant Server KLHDC7B_000028 1/12908 1/8544 0/4364
1 c.1138C>G r.(?) p.(Pro380Ala) g.50987733C>G Copied from the Exome Variant Server KLHDC7B_000029 1/12978 1/8582 0/4396
1 c.1146C>G r.(=) p.(=) g.50987741C>G Copied from the Exome Variant Server KLHDC7B_000030 1/12980 0/8582 1/4398
1 c.1152C>G r.(?) p.(Ile384Met) g.50987747C>G Copied from the Exome Variant Server KLHDC7B_000031 12/12984 11/8588 1/4396
1 c.1157G>A r.(?) p.(Ser386Asn) g.50987752G>A Copied from the Exome Variant Server KLHDC7B_000032 1/12988 1/8590 0/4398
1 c.1207C>T r.(=) p.(=) g.50987802C>T Copied from the Exome Variant Server KLHDC7B_000033 8/13002 0/8596 8/4406
1 c.1221C>T r.(=) p.(=) g.50987816C>T Copied from the Exome Variant Server KLHDC7B_000034 1/13004 0/8598 1/4406
1 c.1230C>T r.(=) p.(=) g.50987825C>T Copied from the Exome Variant Server KLHDC7B_000035 32/13004 1/8598 31/4406
1 c.1248C>T r.(=) p.(=) g.50987843C>T Copied from the Exome Variant Server KLHDC7B_000036 1486/13004 751/8598 735/4406
1 c.1293C>T r.(=) p.(=) g.50987888C>T Copied from the Exome Variant Server KLHDC7B_000037 1/12998 0/8596 1/4402
1 c.1294G>A r.(?) p.(Ala432Thr) g.50987889G>A Copied from the Exome Variant Server KLHDC7B_000038 1/12998 0/8596 1/4402
1 c.1306G>A r.(?) p.(Ala436Thr) g.50987901G>A Copied from the Exome Variant Server KLHDC7B_000039 3/12996 0/8594 3/4402
1 c.1346G>A r.(?) p.(Arg449His) g.50987941G>A Copied from the Exome Variant Server KLHDC7B_000040 1/13004 1/8598 0/4406
1 c.1359C>T r.(=) p.(=) g.50987954C>T Copied from the Exome Variant Server KLHDC7B_000041 2/13004 0/8598 2/4406
1 c.1366G>A r.(?) p.(Gly456Arg) g.50987961G>A Copied from the Exome Variant Server KLHDC7B_000042 1/13006 1/8600 0/4406
1 c.1395G>A r.(=) p.(=) g.50987990G>A Copied from the Exome Variant Server KLHDC7B_000043 261/13004 1/8598 260/4406
1 c.1432T>C r.(?) p.(Tyr478His) g.50988027T>C Copied from the Exome Variant Server KLHDC7B_000044 1/13004 1/8598 0/4406
1 c.1443C>T r.(=) p.(=) g.50988038C>T Copied from the Exome Variant Server KLHDC7B_000045 18/13002 0/8596 18/4406
1 c.1447C>T r.(?) p.(Arg483Trp) g.50988042C>T Copied from the Exome Variant Server KLHDC7B_000046 1/13004 0/8598 1/4406
1 c.1467G>T r.(=) p.(=) g.50988062G>T Copied from the Exome Variant Server KLHDC7B_000047 5154/13002 4137/8596 1017/4406
1 c.1476G>A r.(=) p.(=) g.50988071G>A Copied from the Exome Variant Server KLHDC7B_000048 1/12996 0/8592 1/4404
1 c.1510G>A r.(?) p.(Val504Met) g.50988105G>A Copied from the Exome Variant Server KLHDC7B_000049 372/12980 340/8580 32/4400
1 c.1519G>A r.(?) p.(Ala507Thr) g.50988114G>A Copied from the Exome Variant Server KLHDC7B_000050 1/12962 0/8570 1/4392
1 c.1530C>T r.(=) p.(=) g.50988125C>T Copied from the Exome Variant Server KLHDC7B_000051 1/12956 1/8564 0/4392
1 c.1537A>C r.(?) p.(Thr513Pro) g.50988132A>C Copied from the Exome Variant Server KLHDC7B_000052 1/12942 1/8556 0/4386
1 c.1546G>A r.(?) p.(Gly516Ser) g.50988141G>A Copied from the Exome Variant Server KLHDC7B_000053 145/12904 2/8534 143/4370
1 c.1579C>T r.(?) p.(Pro527Ser) g.50988174C>T Copied from the Exome Variant Server KLHDC7B_000054 2/12742 2/8442 0/4300
1 c.1598A>G r.(?) p.(His533Arg) g.50988193A>G Copied from the Exome Variant Server KLHDC7B_000055 8058/12914 5522/8544 2536/4370
1 c.1653C>A r.(=) p.(=) g.50988248C>A Copied from the Exome Variant Server KLHDC7B_000056 1/12980 1/8586 0/4394
1 c.1703C>A r.(?) p.(Pro568His) g.50988298C>A Copied from the Exome Variant Server KLHDC7B_000057 1/12968 1/8584 0/4384
1 c.1722C>T r.(=) p.(=) g.50988317C>T Copied from the Exome Variant Server KLHDC7B_000058 49/12972 43/8584 6/4388
1 c.1781T>C r.(?) p.(Leu594Pro) g.50988376T>C Copied from the Exome Variant Server KLHDC7B_000059 21/12928 20/8540 1/4388
1 c.1783T>C r.(?) p.(*595Argext*54) g.50988378T>C Copied from the Exome Variant Server KLHDC7B_000060 1/12924 0/8536 1/4388
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