Full data view for gene PRDM2

Information The variants shown are described using the NM_012231.4 transcript reference sequence.

270 entries on 3 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.9+12A>T r.(=) p.(=) g.14042121A>T Copied from the Exome Variant Server PRDM2_000001 1/13000 0/8598 1/4402 - - - - - - -
?/? c.9+21T>G r.(=) p.(=) g.14042130T>G Copied from the Exome Variant Server PRDM2_000002 1/13000 0/8596 1/4404 - - - - - - -
?/? c.9+34T>C r.(=) p.(=) g.14042143T>C Copied from the Exome Variant Server PRDM2_000003 1/13000 1/8596 0/4404 - - - - - - -
?/? c.9+7253G>A r.(=) p.(=) g.14049362G>A Copied from the Exome Variant Server PRDM2_000004 1/5728 1/3978 0/1750 - - - - - - -
?/? c.9+7269A>G r.(=) p.(=) g.14049378A>G Copied from the Exome Variant Server PRDM2_000005 1/5728 1/3978 0/1750 - - - - - - -
?/? c.10-17C>T r.(=) p.(=) g.14057478C>T Copied from the Exome Variant Server PRDM2_000006 218/13006 203/8600 15/4406 - - - - - - -
?/? c.10-9G>A r.(=) p.(=) g.14057486G>A Copied from the Exome Variant Server PRDM2_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.29C>T r.(?) p.(Ala10Val) g.14057514C>T Copied from the Exome Variant Server PRDM2_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.48T>C r.(=) p.(=) g.14057533T>C Copied from the Exome Variant Server PRDM2_000009 6/13006 1/8600 5/4406 - - - - - - -
?/? c.57C>G r.(=) p.(=) g.14057542C>G Copied from the Exome Variant Server PRDM2_000010 13/13006 8/8600 5/4406 - - - - - - -
?/? c.66G>T r.(=) p.(=) g.14057551G>T Copied from the Exome Variant Server PRDM2_000011 2/13006 0/8600 2/4406 - - - - - - -
?/? c.70C>T r.(?) p.(Arg24*) g.14057555C>T Copied from the Exome Variant Server PRDM2_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.71G>A r.(?) p.(Arg24Gln) g.14057556G>A Copied from the Exome Variant Server PRDM2_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.99C>T r.(=) p.(=) g.14057584C>T Copied from the Exome Variant Server PRDM2_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.228G>A r.(?) p.(Trp76*) g.14059374G>A Copied from the Exome Variant Server PRDM2_000015 1/13000 1/8594 0/4406 - - - - - - -
?/? c.231+18T>C r.(=) p.(=) g.14059395T>C Copied from the Exome Variant Server PRDM2_000016 2143/12994 1940/8588 203/4406 - - - - - - -
?/? c.231+47_231+49del r.(=) p.(=) g.14059424_14059426del Copied from the Exome Variant Server PRDM2_000017 1/12464 1/8210 0/4254 - - - - - - -
?/? c.232-41C>T r.(=) p.(=) g.14068459C>T Copied from the Exome Variant Server PRDM2_000018 22/13002 0/8596 22/4406 - - - - - - -
?/? c.272C>G r.(?) p.(Thr91Ser) g.14068540C>G Copied from the Exome Variant Server PRDM2_000019 3/13006 0/8600 3/4406 - - - - - - -
?/? c.286G>A r.(?) p.(Gly96Arg) g.14068554G>A Copied from the Exome Variant Server PRDM2_000020 1/13006 0/8600 1/4406 - - - - - - -
?/? c.346C>T r.(=) p.(=) g.14068614C>T Copied from the Exome Variant Server PRDM2_000021 7/13006 5/8600 2/4406 - - - - - - -
?/? c.372T>C r.(=) p.(=) g.14068640T>C Copied from the Exome Variant Server PRDM2_000022 2/13006 0/8600 2/4406 - - - - - - -
?/? c.384+34C>T r.(=) p.(=) g.14068686C>T Copied from the Exome Variant Server PRDM2_000023 113/13006 55/8600 58/4406 - - - - - - -
?/? c.384+35G>A r.(=) p.(=) g.14068687G>A Copied from the Exome Variant Server PRDM2_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.384+47T>G r.(=) p.(=) g.14068699T>G Copied from the Exome Variant Server PRDM2_000025 1/12982 1/8594 0/4388 - - - - - - -
?/? c.385-15C>T r.(=) p.(=) g.14075841C>T Copied from the Exome Variant Server PRDM2_000026 1/12840 1/8496 0/4344 - - - - - - -
?/? c.409C>T r.(=) p.(=) g.14075880C>T Copied from the Exome Variant Server PRDM2_000027 184/12964 170/8580 14/4384 - - - - - - -
?/? c.475G>C r.(?) p.(Ala159Pro) g.14075946G>C Copied from the Exome Variant Server PRDM2_000028 3/12962 1/8572 2/4390 - - - - - - -
?/? c.476C>T r.(?) p.(Ala159Val) g.14075947C>T Copied from the Exome Variant Server PRDM2_000029 23/12962 21/8572 2/4390 - - - - - - -
?/? c.512-2752T>C r.(=) p.(=) g.14096821T>C Copied from the Exome Variant Server PRDM2_000030 1010/5732 895/3980 115/1752 - - - - - - -
?/? c.512-43del r.(=) p.(=) g.14099530del Copied from the Exome Variant Server PRDM2_000032 454/11556 325/7630 129/3926 - - - - - - -
?/? c.512-43dup r.(=) p.(=) g.14099530dup Copied from the Exome Variant Server PRDM2_000031 107/11556 67/7630 40/3926 - - - - - - -
?/? c.512-31A>C r.(=) p.(=) g.14099542A>C Copied from the Exome Variant Server PRDM2_000033 1/12664 1/8380 0/4284 - - - - - - -
?/? c.512-19del r.(=) p.(=) g.14099554del Copied from the Exome Variant Server PRDM2_000035 431/12378 274/8166 157/4212 - - - - - - -
?/? c.512-19dup r.(=) p.(=) g.14099554dup Copied from the Exome Variant Server PRDM2_000034 17/12378 15/8166 2/4212 - - - - - - -
?/? c.513G>A r.(=) p.(=) g.14099574G>A Copied from the Exome Variant Server PRDM2_000036 211/12992 182/8594 29/4398 - - - - - - -
?/? c.541_545del r.(?) p.(Gly182Glnfs*11) g.14099602_14099606del Copied from the Exome Variant Server PRDM2_000037 20/12520 15/8254 5/4266 - - - - - - -
?/? c.567A>G r.(=) p.(=) g.14099628A>G Copied from the Exome Variant Server PRDM2_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.575C>T r.(?) p.(Thr192Ile) g.14099636C>T Copied from the Exome Variant Server PRDM2_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.591C>T r.(=) p.(=) g.14099652C>T Copied from the Exome Variant Server PRDM2_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.616G>A r.(?) p.(Ala206Thr) g.14099677G>A Copied from the Exome Variant Server PRDM2_000041 4/13006 0/8600 4/4406 - - - - - - -
?/? c.622+12A>T r.(=) p.(=) g.14099695A>T Copied from the Exome Variant Server PRDM2_000042 1/13004 1/8600 0/4404 - - - - - - -
?/? c.622+51G>T r.(=) p.(=) g.14099734G>T Copied from the Exome Variant Server PRDM2_000043 92/12972 0/8580 92/4392 - - - - - - -
?/? c.622+80C>T r.(=) p.(=) g.14099763C>T Copied from the Exome Variant Server PRDM2_000044 1381/4566 1071/3182 310/1384 - - - - - - -
?/? c.623-32C>T r.(=) p.(=) g.14104881C>T Copied from the Exome Variant Server PRDM2_000045 2/13006 0/8600 2/4406 - - - - - - -
?/? c.623-31T>G r.(=) p.(=) g.14104882T>G Copied from the Exome Variant Server PRDM2_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.690G>T r.(=) p.(=) g.14104980G>T Copied from the Exome Variant Server PRDM2_000047 17/13006 0/8600 17/4406 - - - - - - -
?/? c.707C>G r.(?) p.(Pro236Arg) g.14104997C>G Copied from the Exome Variant Server PRDM2_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.759C>A r.(?) p.(Asp253Glu) g.14105049C>A Copied from the Exome Variant Server PRDM2_000049 185/13006 173/8600 12/4406 - - - - - - -
?/? c.772G>A r.(?) p.(Ala258Thr) g.14105062G>A Copied from the Exome Variant Server PRDM2_000050 4/13006 0/8600 4/4406 - - - - - - -
?/? c.774G>A r.(=) p.(=) g.14105064G>A Copied from the Exome Variant Server PRDM2_000051 4/13006 1/8600 3/4406 - - - - - - -
?/? c.794A>G r.(?) p.(Asp265Gly) g.14105084A>G Copied from the Exome Variant Server PRDM2_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.820_831del r.(?) p.(Asp277_Glu280del) g.14105110_14105121del Copied from the Exome Variant Server PRDM2_000053 32/12520 18/8254 14/4266 - - - - - - -
?/? c.828_830del r.(?) p.(Glu276del) g.14105118_14105120del Copied from the Exome Variant Server PRDM2_000054 5/12520 0/8254 5/4266 - - - - - - -
?/? c.846A>T r.(?) p.(Glu282Asp) g.14105136A>T Copied from the Exome Variant Server PRDM2_000055 1/13006 0/8600 1/4406 - - - - - - -
?/? c.849T>A r.(?) p.(Asp283Glu) g.14105139T>A Copied from the Exome Variant Server PRDM2_000056 4170/13006 3066/8600 1104/4406 - - - - - - -
?/? c.850G>A r.(?) p.(Asp284Asn) g.14105140G>A Copied from the Exome Variant Server PRDM2_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.852T>A r.(?) p.(Asp284Glu) g.14105142T>A Copied from the Exome Variant Server PRDM2_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.932G>A r.(?) p.(Arg311Gln) g.14105222G>A Copied from the Exome Variant Server PRDM2_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1001G>A r.(?) p.(Cys334Tyr) g.14105291G>A Copied from the Exome Variant Server PRDM2_000060 256/13006 231/8600 25/4406 - - - - - - -
?/? c.1008G>A r.(=) p.(=) g.14105298G>A Copied from the Exome Variant Server PRDM2_000061 4037/13006 2964/8600 1073/4406 - - - - - - -
?/? c.1010T>C r.(?) p.(Val337Ala) g.14105300T>C Copied from the Exome Variant Server PRDM2_000062 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1059T>C r.(=) p.(=) g.14105349T>C Copied from the Exome Variant Server PRDM2_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1083G>C r.(=) p.(=) g.14105373G>C Copied from the Exome Variant Server PRDM2_000064 79/13006 0/8600 79/4406 - - - - - - -
?/? c.1088A>T r.(?) p.(Gln363Leu) g.14105378A>T Copied from the Exome Variant Server PRDM2_000065 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1092T>C r.(=) p.(=) g.14105382T>C Copied from the Exome Variant Server PRDM2_000066 187/13006 175/8600 12/4406 - - - - - - -
?/? c.1135A>G r.(?) p.(Met379Val) g.14105425A>G Copied from the Exome Variant Server PRDM2_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1155C>T r.(=) p.(=) g.14105445C>T Copied from the Exome Variant Server PRDM2_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1156G>A r.(?) p.(Val386Ile) g.14105446G>A Copied from the Exome Variant Server PRDM2_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1160A>G r.(?) p.(Asn387Ser) g.14105450A>G Copied from the Exome Variant Server PRDM2_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1163A>G r.(?) p.(His388Arg) g.14105453A>G Copied from the Exome Variant Server PRDM2_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1203A>G r.(=) p.(=) g.14105493A>G Copied from the Exome Variant Server PRDM2_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1214G>A r.(?) p.(Arg405Gln) g.14105504G>A Copied from the Exome Variant Server PRDM2_000073 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1230G>A r.(=) p.(=) g.14105520G>A Copied from the Exome Variant Server PRDM2_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1262G>A r.(?) p.(Ser421Asn) g.14105552G>A Copied from the Exome Variant Server PRDM2_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1266A>G r.(=) p.(=) g.14105556A>G Copied from the Exome Variant Server PRDM2_000076 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1277C>T r.(?) p.(Pro426Leu) g.14105567C>T Copied from the Exome Variant Server PRDM2_000077 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1298G>A r.(?) p.(Gly433Asp) g.14105588G>A Copied from the Exome Variant Server PRDM2_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1310G>A r.(?) p.(Gly437Glu) g.14105600G>A Copied from the Exome Variant Server PRDM2_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1315A>G r.(?) p.(Asn439Asp) g.14105605A>G Copied from the Exome Variant Server PRDM2_000080 10/13006 9/8600 1/4406 - - - - - - -
?/? c.1337C>T r.(?) p.(Ser446Leu) g.14105627C>T Copied from the Exome Variant Server PRDM2_000081 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1349G>A r.(?) p.(Ser450Asn) g.14105639G>A Copied from the Exome Variant Server PRDM2_000082 194/13006 175/8600 19/4406 - - - - - - -
?/? c.1351C>G r.(?) p.(Leu451Val) g.14105641C>G Copied from the Exome Variant Server PRDM2_000083 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1387G>A r.(?) p.(Ala463Thr) g.14105677G>A Copied from the Exome Variant Server PRDM2_000084 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1417G>A r.(?) p.(Val473Ile) g.14105707G>A Copied from the Exome Variant Server PRDM2_000085 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1436T>G r.(?) p.(Val479Gly) g.14105726T>G Copied from the Exome Variant Server PRDM2_000086 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1451C>T r.(?) p.(Pro484Leu) g.14105741C>T Copied from the Exome Variant Server PRDM2_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1508G>A r.(?) p.(Arg503His) g.14105798G>A Copied from the Exome Variant Server PRDM2_000088 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1518C>T r.(=) p.(=) g.14105808C>T Copied from the Exome Variant Server PRDM2_000089 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1561C>G r.(?) p.(Leu521Val) g.14105851C>G Copied from the Exome Variant Server PRDM2_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1566A>G r.(=) p.(=) g.14105856A>G Copied from the Exome Variant Server PRDM2_000091 179/13006 167/8600 12/4406 - - - - - - -
?/? c.1601C>G r.(?) p.(Thr534Ser) g.14105891C>G Copied from the Exome Variant Server PRDM2_000092 15/13006 0/8600 15/4406 - - - - - - -
?/? c.1631C>T r.(?) p.(Pro544Leu) g.14105921C>T Copied from the Exome Variant Server PRDM2_000093 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1632G>A r.(=) p.(=) g.14105922G>A Copied from the Exome Variant Server PRDM2_000094 247/13006 233/8600 14/4406 - - - - - - -
?/? c.1656T>C r.(=) p.(=) g.14105946T>C Copied from the Exome Variant Server PRDM2_000095 187/13006 175/8600 12/4406 - - - - - - -
?/? c.1672A>G r.(?) p.(Ile558Val) g.14105962A>G Copied from the Exome Variant Server PRDM2_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1732_1734del r.(?) p.(Asn579del) g.14106022_14106024del Copied from the Exome Variant Server PRDM2_000097 8/12510 4/8248 4/4262 - - - - - - -
?/? c.1752T>C r.(=) p.(=) g.14106042T>C Copied from the Exome Variant Server PRDM2_000098 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1775C>T r.(?) p.(Ser592Leu) g.14106065C>T Copied from the Exome Variant Server PRDM2_000099 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1776G>A r.(=) p.(=) g.14106066G>A Copied from the Exome Variant Server PRDM2_000100 189/13006 0/8600 189/4406 - - - - - - -
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