All transcript variants in gene DDX20

Information The variants shown are described using the NM_007204.4 transcript reference sequence.

129 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.-285_-284insGG r.(=) p.(=) g.112298262_112298263insGG Copied from the Exome Variant Server DDX20_000001 297/11054 171/7634 126/3420
?/? c.-276_-275insC r.(=) p.(=) g.112298271_112298272insC Copied from the Exome Variant Server DDX20_000002 19/11378 14/7808 5/3570
?/? c.-246C>A r.(=) p.(=) g.112298301C>A Copied from the Exome Variant Server DDX20_000003 1/12112 1/8254 0/3858
?/? c.-235C>T r.(=) p.(=) g.112298312C>T Copied from the Exome Variant Server DDX20_000004 22/12166 19/8270 3/3896
?/? c.-225C>A r.(=) p.(=) g.112298322C>A Copied from the Exome Variant Server DDX20_000005 2/12194 2/8292 0/3902
?/? c.-184C>T r.(=) p.(=) g.112298363C>T Copied from the Exome Variant Server DDX20_000006 1/12268 1/8318 0/3950
?/? c.-169T>C r.(=) p.(=) g.112298378T>C Copied from the Exome Variant Server DDX20_000007 1559/12238 1146/8300 413/3938
?/? c.-140G>A r.(=) p.(=) g.112298407G>A Copied from the Exome Variant Server DDX20_000008 14/4566 0/3182 14/1384
?/? c.-37C>A r.(=) p.(=) g.112298510C>A Copied from the Exome Variant Server DDX20_000009 1/12696 0/8498 1/4198
?/? c.-4T>C r.(=) p.(=) g.112298543T>C Copied from the Exome Variant Server DDX20_000010 1/12806 1/8548 0/4258
?/? c.5C>G r.(?) p.(Ala2Gly) g.112298551C>G Copied from the Exome Variant Server DDX20_000012 2/12802 2/8536 0/4266
?/? c.35C>T r.(?) p.(Ala12Val) g.112298581C>T Copied from the Exome Variant Server DDX20_000014 5/12892 5/8568 0/4324
?/? c.36A>G r.(=) p.(=) g.112298582A>G Copied from the Exome Variant Server DDX20_000016 3525/12886 1610/8568 1915/4318
?/? c.45G>C r.(=) p.(=) g.112298591G>C Copied from the Exome Variant Server DDX20_000018 133/12904 2/8564 131/4340
?/? c.50C>G r.(?) p.(Ala17Gly) g.112298596C>G Copied from the Exome Variant Server DDX20_000020 1/12904 1/8558 0/4346
?/? c.155G>T r.(?) p.(Arg52Leu) g.112298701G>T Copied from the Exome Variant Server DDX20_000022 1/11994 1/7992 0/4002
?/? c.218T>C r.(?) p.(Val73Ala) g.112298764T>C Copied from the Exome Variant Server DDX20_000024 10/10820 1/7220 9/3600
?/? c.283T>C r.(=) p.(=) g.112298829T>C Copied from the Exome Variant Server DDX20_000026 2862/7972 1538/5370 1324/2602
?/? c.302-26G>C r.(=) p.(=) g.112299242G>C Copied from the Exome Variant Server DDX20_000028 6/13004 0/8600 6/4404
?/? c.302-17G>A r.(=) p.(=) g.112299251G>A Copied from the Exome Variant Server DDX20_000031 1/13006 1/8600 0/4406
?/? c.306A>G r.(=) p.(=) g.112299272A>G Copied from the Exome Variant Server DDX20_000011 1/13006 1/8600 0/4406
?/? c.311T>G r.(?) p.(Val104Gly) g.112299277T>G Copied from the Exome Variant Server DDX20_000013 1/13006 1/8600 0/4406
?/? c.329C>T r.(?) p.(Thr110Ile) g.112299295C>T Copied from the Exome Variant Server DDX20_000015 1/13006 0/8600 1/4406
?/? c.339C>T r.(=) p.(=) g.112299305C>T Copied from the Exome Variant Server DDX20_000017 8/13006 7/8600 1/4406
?/? c.396+14G>A r.(=) p.(=) g.112299376G>A Copied from the Exome Variant Server DDX20_000019 7/13006 0/8600 7/4406
?/? c.396+27G>A r.(=) p.(=) g.112299389G>A Copied from the Exome Variant Server DDX20_000021 1/13006 1/8600 0/4406
?/? c.397-42_397-41insA r.(=) p.(=) g.112301980_112301981insA Copied from the Exome Variant Server DDX20_000023 164/12508 0/8248 164/4260
?/? c.397-15A>T r.(=) p.(=) g.112302007A>T Copied from the Exome Variant Server DDX20_000025 40/13004 0/8598 40/4406
?/? c.397-12G>T r.(=) p.(=) g.112302010G>T Copied from the Exome Variant Server DDX20_000027 109/13004 2/8598 107/4406
?/? c.397-11del r.(=) p.(=) g.112302011del Copied from the Exome Variant Server DDX20_000030 304/12518 192/8252 112/4266
?/? c.397-11dup r.(=) p.(=) g.112302011dup Copied from the Exome Variant Server DDX20_000029 141/12518 92/8252 49/4266
?/? c.410C>G r.(?) p.(Ala137Gly) g.112302035C>G Copied from the Exome Variant Server DDX20_000032 20/13006 0/8600 20/4406
?/? c.487C>A r.(?) p.(His163Asn) g.112302112C>A Copied from the Exome Variant Server DDX20_000033 2/13006 0/8600 2/4406
?/? c.502G>A r.(?) p.(Gly168Arg) g.112302127G>A Copied from the Exome Variant Server DDX20_000035 1/13006 0/8600 1/4406
?/? c.545A>G r.(?) p.(His182Arg) g.112302170A>G Copied from the Exome Variant Server DDX20_000037 1/13006 0/8600 1/4406
?/? c.562C>G r.(?) p.(Pro188Ala) g.112302187C>G Copied from the Exome Variant Server DDX20_000039 1/13006 0/8600 1/4406
?/? c.565+18G>T r.(=) p.(=) g.112302208G>T Copied from the Exome Variant Server DDX20_000041 1509/13006 1198/8600 311/4406
?/? c.565+29G>A r.(=) p.(=) g.112302219G>A Copied from the Exome Variant Server DDX20_000043 2349/13006 1754/8600 595/4406
?/? c.565+31G>A r.(=) p.(=) g.112302221G>A Copied from the Exome Variant Server DDX20_000045 2/13006 2/8600 0/4406
?/? c.565+51_565+52del r.(=) p.(=) g.112302241_112302242del Copied from the Exome Variant Server DDX20_000047 10/12510 10/8252 0/4258
?/? c.566-27_566-26insT r.(=) p.(=) g.112303069_112303070insT Copied from the Exome Variant Server DDX20_000049 165/12124 4/8122 161/4002
?/? c.566-18del r.(=) p.(=) g.112303078del Copied from the Exome Variant Server DDX20_000052 219/12116 124/8124 95/3992
?/? c.566-18dup r.(=) p.(=) g.112303078dup Copied from the Exome Variant Server DDX20_000051 614/12116 460/8124 154/3992
?/? c.617G>A r.(?) p.(Arg206His) g.112303147G>A Copied from the Exome Variant Server DDX20_000054 1/13004 1/8598 0/4406
?/? c.671A>G r.(?) p.(Glu224Gly) g.112303201A>G Copied from the Exome Variant Server DDX20_000056 1/13004 1/8598 0/4406
?/? c.680+27T>A r.(=) p.(=) g.112303237T>A Copied from the Exome Variant Server DDX20_000034 397/12998 308/8598 89/4400
?/? c.680+50A>G r.(=) p.(=) g.112303260A>G Copied from the Exome Variant Server DDX20_000036 2222/12996 998/8600 1224/4396
?/? c.718C>T r.(=) p.(=) g.112303365C>T Copied from the Exome Variant Server DDX20_000038 1/13006 0/8600 1/4406
?/? c.727T>C r.(?) p.(Ser243Pro) g.112303374T>C Copied from the Exome Variant Server DDX20_000040 1/13006 1/8600 0/4406
?/? c.768G>C r.(?) p.(Lys256Asn) g.112303415G>C Copied from the Exome Variant Server DDX20_000042 21/13006 3/8600 18/4406
?/? c.823+18G>A r.(=) p.(=) g.112303488G>A Copied from the Exome Variant Server DDX20_000044 1/13006 0/8600 1/4406
?/? c.823+25T>C r.(=) p.(=) g.112303495T>C Copied from the Exome Variant Server DDX20_000046 1/13006 1/8600 0/4406
?/? c.824-49G>T r.(=) p.(=) g.112303560G>T Copied from the Exome Variant Server DDX20_000048 4/13006 0/8600 4/4406
?/? c.873G>A r.(=) p.(=) g.112303658G>A Copied from the Exome Variant Server DDX20_000050 1/13006 0/8600 1/4406
?/? c.882G>A r.(=) p.(=) g.112303667G>A Copied from the Exome Variant Server DDX20_000053 1/13006 1/8600 0/4406
?/? c.901C>G r.(?) p.(Gln301Glu) g.112303686C>G Copied from the Exome Variant Server DDX20_000055 1/13004 1/8598 0/4406
?/? c.935C>G r.(?) p.(Ala312Gly) g.112303720C>G Copied from the Exome Variant Server DDX20_000057 1/13006 1/8600 0/4406
?/? c.941del r.(?) p.(Val314Alafs*30) g.112303726del Copied from the Exome Variant Server DDX20_000058 1/12520 1/8254 0/4266
?/? c.962+23C>T r.(=) p.(=) g.112303770C>T Copied from the Exome Variant Server DDX20_000059 1/13006 1/8600 0/4406
?/? c.962+44A>T r.(=) p.(=) g.112303791A>T Copied from the Exome Variant Server DDX20_000060 404/13006 311/8600 93/4406
?/? c.963-46G>A r.(=) p.(=) g.112303802G>A Copied from the Exome Variant Server DDX20_000061 11/13006 0/8600 11/4406
?/? c.963-36T>G r.(=) p.(=) g.112303812T>G Copied from the Exome Variant Server DDX20_000062 1/13006 0/8600 1/4406
?/? c.976G>A r.(?) p.(Ala326Thr) g.112303861G>A Copied from the Exome Variant Server DDX20_000063 41/13002 0/8598 41/4404
?/? c.1004C>T r.(?) p.(Pro335Leu) g.112303889C>T Copied from the Exome Variant Server DDX20_000064 1/13002 1/8598 0/4404
?/? c.1021+24_1021+25insTT r.(=) p.(=) g.112303930_112303931insTT Copied from the Exome Variant Server DDX20_000065 50/12514 0/8250 50/4264
?/? c.1021+30T>G r.(=) p.(=) g.112303936T>G Copied from the Exome Variant Server DDX20_000066 1/13002 1/8598 0/4404
?/? c.1021+45G>T r.(=) p.(=) g.112303951G>T Copied from the Exome Variant Server DDX20_000067 87/13002 2/8598 85/4404
?/? c.1021+52del r.(=) p.(=) g.112303958del Copied from the Exome Variant Server DDX20_000068 1/12514 0/8250 1/4264
?/? c.1022-36T>C r.(=) p.(=) g.112304841T>C Copied from the Exome Variant Server DDX20_000069 2/13006 2/8600 0/4406
?/? c.1022-31T>A r.(=) p.(=) g.112304846T>A Copied from the Exome Variant Server DDX20_000070 1/13006 1/8600 0/4406
?/? c.1022-7C>T r.(=) p.(=) g.112304870C>T Copied from the Exome Variant Server DDX20_000071 2/13006 2/8600 0/4406
?/? c.1054A>G r.(?) p.(Met352Val) g.112304909A>G Copied from the Exome Variant Server DDX20_000072 15/13006 0/8600 15/4406
?/? c.1105-45G>A r.(=) p.(=) g.112305254G>A Copied from the Exome Variant Server DDX20_000073 1/13006 1/8600 0/4406
?/? c.1105-27A>G r.(=) p.(=) g.112305272A>G Copied from the Exome Variant Server DDX20_000074 1/13006 1/8600 0/4406
?/? c.1105-6T>C r.(=) p.(=) g.112305293T>C Copied from the Exome Variant Server DDX20_000075 2/13006 0/8600 2/4406
?/? c.1131G>C r.(?) p.(Lys377Asn) g.112305325G>C Copied from the Exome Variant Server DDX20_000076 3/13006 3/8600 0/4406
?/? c.1155T>C r.(=) p.(=) g.112305349T>C Copied from the Exome Variant Server DDX20_000077 1/13006 1/8600 0/4406
?/? c.1210+33_1210+34insTTAAGGGGAGG r.(=) p.(=) g.112305437_112305438insTTAAGGGGAGG Copied from the Exome Variant Server DDX20_000078 382/12516 291/8254 91/4262
?/? c.1242C>T r.(=) p.(=) g.112305559C>T Copied from the Exome Variant Server DDX20_000079 1/13006 0/8600 1/4406
?/? c.1243C>T r.(?) p.(Arg415Trp) g.112305560C>T Copied from the Exome Variant Server DDX20_000080 1/13006 0/8600 1/4406
?/? c.1248A>G r.(=) p.(=) g.112305565A>G Copied from the Exome Variant Server DDX20_000081 2/13006 0/8600 2/4406
?/? c.1254A>G r.(=) p.(=) g.112305571A>G Copied from the Exome Variant Server DDX20_000082 2/13006 2/8600 0/4406
?/? c.1261_1263del r.(?) p.(Met423del) g.112305578_112305580del Copied from the Exome Variant Server DDX20_000083 35/12518 32/8252 3/4266
?/? c.1302C>T r.(=) p.(=) g.112305619C>T Copied from the Exome Variant Server DDX20_000084 1/13006 1/8600 0/4406
?/? c.1310C>T r.(?) p.(Pro437Leu) g.112305627C>T Copied from the Exome Variant Server DDX20_000085 4/13006 4/8600 0/4406
?/? c.1312+28A>G r.(=) p.(=) g.112305657A>G Copied from the Exome Variant Server DDX20_000086 1/13006 0/8600 1/4406
?/? c.1312+42G>T r.(=) p.(=) g.112305671G>T Copied from the Exome Variant Server DDX20_000087 1/13006 1/8600 0/4406
?/? c.1409A>C r.(?) p.(Gln470Pro) g.112308455A>C Copied from the Exome Variant Server DDX20_000088 2/13006 0/8600 2/4406
?/? c.1427T>G r.(?) p.(Ile476Ser) g.112308473T>G Copied from the Exome Variant Server DDX20_000089 1/13006 0/8600 1/4406
?/? c.1523C>A r.(?) p.(Ser508*) g.112308569C>A Copied from the Exome Variant Server DDX20_000090 2/13004 1/8598 1/4406
?/? c.1572T>C r.(=) p.(=) g.112308618T>C Copied from the Exome Variant Server DDX20_000091 5/13006 5/8600 0/4406
?/? c.1585A>G r.(?) p.(Lys529Glu) g.112308631A>G Copied from the Exome Variant Server DDX20_000092 16/13006 15/8600 1/4406
?/? c.1592C>T r.(?) p.(Thr531Met) g.112308638C>T Copied from the Exome Variant Server DDX20_000093 1/13006 1/8600 0/4406
?/? c.1593G>A r.(=) p.(=) g.112308639G>A Copied from the Exome Variant Server DDX20_000094 50/13006 43/8600 7/4406
?/? c.1597C>T r.(?) p.(Pro533Ser) g.112308643C>T Copied from the Exome Variant Server DDX20_000095 2/13006 0/8600 2/4406
?/? c.1673C>T r.(?) p.(Thr558Ile) g.112308719C>T Copied from the Exome Variant Server DDX20_000096 1/13006 1/8600 0/4406
?/? c.1676A>G r.(?) p.(Asn559Ser) g.112308722A>G Copied from the Exome Variant Server DDX20_000098 27/13006 23/8600 4/4406
?/? c.1694A>G r.(?) p.(Lys565Arg) g.112308740A>G Copied from the Exome Variant Server DDX20_000100 1/13004 0/8598 1/4406
?/? c.1700C>G r.(?) p.(Ala567Gly) g.112308746C>G Copied from the Exome Variant Server DDX20_000102 1/13004 0/8598 1/4406
?/? c.1713A>T r.(=) p.(=) g.112308759A>T Copied from the Exome Variant Server DDX20_000103 1/13004 1/8600 0/4404
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