All transcript variants in gene PRAME

Information The variants shown are described using the NM_206953.1 transcript reference sequence.

95 entries on 1 page. Showing entries 1 - 95.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-72C>A r.(=) p.(=) g.22899324G>T Copied from the Exome Variant Server PRAME_000095 3/4566 2/3182 1/1384
?/? c.-71G>A r.(=) p.(=) g.22899323C>T Copied from the Exome Variant Server PRAME_000094 6/4566 6/3182 0/1384
?/? c.-42C>G r.(=) p.(=) g.22899294G>C Copied from the Exome Variant Server PRAME_000093 2/13006 2/8600 0/4406
?/? c.19T>C r.(?) p.(Trp7Arg) g.22899234A>G Copied from the Exome Variant Server PRAME_000092 8174/13006 4922/8600 3252/4406
?/? c.21+19C>T r.(=) p.(=) g.22899213G>A Copied from the Exome Variant Server PRAME_000091 1/13006 1/8600 0/4406
?/? c.21+45G>A r.(=) p.(=) g.22899187C>T Copied from the Exome Variant Server PRAME_000090 1/13006 1/8600 0/4406
?/? c.21+70G>A r.(=) p.(=) g.22899162C>T Copied from the Exome Variant Server PRAME_000089 1/4566 1/3182 0/1384
?/? c.21+77G>A r.(=) p.(=) g.22899155C>T Copied from the Exome Variant Server PRAME_000088 1/4566 0/3182 1/1384
?/? c.22-41T>C r.(=) p.(=) g.22893552A>G Copied from the Exome Variant Server PRAME_000087 1/13006 1/8600 0/4406
?/? c.22-12A>G r.(=) p.(=) g.22893523T>C Copied from the Exome Variant Server PRAME_000086 33/13006 2/8600 31/4406
?/? c.62C>T r.(?) p.(Thr21Ile) g.22893471G>A Copied from the Exome Variant Server PRAME_000085 2/13006 2/8600 0/4406
?/? c.70C>T r.(?) p.(Arg24Trp) g.22893463G>A Copied from the Exome Variant Server PRAME_000084 30/13006 3/8600 27/4406
?/? c.129C>T r.(=) p.(=) g.22893404G>A Copied from the Exome Variant Server PRAME_000083 1/13006 0/8600 1/4406
?/? c.130G>A r.(?) p.(Ala44Thr) g.22893403C>T Copied from the Exome Variant Server PRAME_000082 2/13006 2/8600 0/4406
?/? c.136G>A r.(?) p.(Glu46Lys) g.22893397C>T Copied from the Exome Variant Server PRAME_000081 1/13006 1/8600 0/4406
?/? c.139T>A r.(?) p.(Leu47Met) g.22893394A>T Copied from the Exome Variant Server PRAME_000080 325/13006 296/8600 29/4406
?/? c.141G>C r.(?) p.(Leu47Phe) g.22893392C>G Copied from the Exome Variant Server PRAME_000079 164/13006 5/8600 159/4406
?/? c.186C>T r.(=) p.(=) g.22893347G>A Copied from the Exome Variant Server PRAME_000078 2/13006 2/8600 0/4406
?/? c.267A>T r.(=) p.(=) g.22893266T>A Copied from the Exome Variant Server PRAME_000077 4/13006 0/8600 4/4406
?/? c.298G>A r.(?) p.(Val100Met) g.22893235C>T Copied from the Exome Variant Server PRAME_000076 1/13006 0/8600 1/4406
?/? c.335T>A r.(?) p.(Val112Asp) g.22893198A>T Copied from the Exome Variant Server PRAME_000075 2/13006 2/8600 0/4406
?/? c.337C>T r.(?) p.(Arg113Cys) g.22893196G>A Copied from the Exome Variant Server PRAME_000074 1/13006 0/8600 1/4406
?/? c.344+23G>A r.(=) p.(=) g.22893166C>T Copied from the Exome Variant Server PRAME_000073 1/13006 1/8600 0/4406
?/? c.345-44A>C r.(=) p.(=) g.22892800T>G Copied from the Exome Variant Server PRAME_000072 2/12992 0/8592 2/4400
?/? c.345-19T>C r.(=) p.(=) g.22892775A>G Copied from the Exome Variant Server PRAME_000071 24/13000 0/8596 24/4404
?/? c.381C>T r.(=) p.(=) g.22892720G>A Copied from the Exome Variant Server PRAME_000070 23/13006 22/8600 1/4406
?/? c.405A>G r.(=) p.(=) g.22892696T>C Copied from the Exome Variant Server PRAME_000069 1/13006 1/8600 0/4406
?/? c.423C>T r.(=) p.(=) g.22892678G>A Copied from the Exome Variant Server PRAME_000068 1/13006 0/8600 1/4406
?/? c.456T>C r.(=) p.(=) g.22892645A>G Copied from the Exome Variant Server PRAME_000067 4/13006 4/8600 0/4406
?/? c.469A>C r.(?) p.(Lys157Gln) g.22892632T>G Copied from the Exome Variant Server PRAME_000066 1/13006 1/8600 0/4406
?/? c.483A>T r.(=) p.(=) g.22892618T>A Copied from the Exome Variant Server PRAME_000065 1/13006 1/8600 0/4406
?/? c.510G>A r.(=) p.(=) g.22892591C>T Copied from the Exome Variant Server PRAME_000064 1/13006 1/8600 0/4406
?/? c.527A>T r.(?) p.(Glu176Val) g.22892574T>A Copied from the Exome Variant Server PRAME_000063 1/13006 1/8600 0/4406
?/? c.535G>A r.(?) p.(Val179Ile) g.22892566C>T Copied from the Exome Variant Server PRAME_000062 1/13006 1/8600 0/4406
?/? c.537A>G r.(=) p.(=) g.22892564T>C Copied from the Exome Variant Server PRAME_000061 1/13006 1/8600 0/4406
?/? c.587T>C r.(?) p.(Ile196Thr) g.22892514A>G Copied from the Exome Variant Server PRAME_000060 3/13006 3/8600 0/4406
?/? c.602G>A r.(?) p.(Arg201Gln) g.22892499C>T Copied from the Exome Variant Server PRAME_000059 2/13006 0/8600 2/4406
?/? c.611A>G r.(?) p.(Asn204Ser) g.22892490T>C Copied from the Exome Variant Server PRAME_000058 268/13006 1/8600 267/4406
?/? c.617T>C r.(?) p.(Leu206Pro) g.22892484A>G Copied from the Exome Variant Server PRAME_000057 2/13006 0/8600 2/4406
?/? c.619C>T r.(?) p.(Arg207Cys) g.22892482G>A Copied from the Exome Variant Server PRAME_000056 1/13006 1/8600 0/4406
?/? c.649G>T r.(?) p.(Ala217Ser) g.22892452C>A Copied from the Exome Variant Server PRAME_000055 1/13006 0/8600 1/4406
?/? c.652A>G r.(?) p.(Met218Val) g.22892449T>C Copied from the Exome Variant Server PRAME_000054 456/13006 410/8600 46/4406
?/? c.671A>G r.(?) p.(Lys224Arg) g.22892430T>C Copied from the Exome Variant Server PRAME_000053 1/13006 1/8600 0/4406
?/? c.702T>A r.(=) p.(=) g.22892399A>T Copied from the Exome Variant Server PRAME_000052 1/13006 1/8600 0/4406
?/? c.728C>T r.(?) p.(Thr243Ile) g.22892373G>A Copied from the Exome Variant Server PRAME_000051 1/13006 1/8600 0/4406
?/? c.744C>T r.(=) p.(=) g.22892357G>A Copied from the Exome Variant Server PRAME_000050 2/13006 2/8600 0/4406
?/? c.749C>T r.(?) p.(Ala250Val) g.22892352G>A Copied from the Exome Variant Server PRAME_000049 5/13006 5/8600 0/4406
?/? c.750G>A r.(=) p.(=) g.22892351C>T Copied from the Exome Variant Server PRAME_000048 1/13006 1/8600 0/4406
?/? c.759T>C r.(=) p.(=) g.22892342A>G Copied from the Exome Variant Server PRAME_000047 144/13006 136/8600 8/4406
?/? c.760_762del r.(?) p.(Pro254del) g.22892339_22892341del Copied from the Exome Variant Server PRAME_000046 1/12518 1/8254 0/4264
?/? c.766C>T r.(=) p.(=) g.22892335G>A Copied from the Exome Variant Server PRAME_000045 229/13006 3/8600 226/4406
?/? c.775A>G r.(?) p.(Met259Val) g.22892326T>C Copied from the Exome Variant Server PRAME_000044 2/13006 1/8600 1/4406
?/? c.787C>T r.(?) p.(Arg263Cys) g.22892314G>A Copied from the Exome Variant Server PRAME_000043 35/13006 34/8600 1/4406
?/? c.788G>A r.(?) p.(Arg263His) g.22892313C>T Copied from the Exome Variant Server PRAME_000042 1/13006 0/8600 1/4406
?/? c.793C>G r.(?) p.(Leu265Val) g.22892308G>C Copied from the Exome Variant Server PRAME_000041 4/13006 0/8600 4/4406
?/? c.795C>T r.(=) p.(=) g.22892306G>A Copied from the Exome Variant Server PRAME_000040 10/13006 10/8600 0/4406
?/? c.798C>T r.(=) p.(=) g.22892303G>A Copied from the Exome Variant Server PRAME_000039 14/13006 13/8600 1/4406
?/? c.803C>T r.(?) p.(Ser268Phe) g.22892298G>A Copied from the Exome Variant Server PRAME_000038 1/13006 1/8600 0/4406
?/? c.846G>A r.(=) p.(=) g.22892255C>T Copied from the Exome Variant Server PRAME_000037 63/13006 57/8600 6/4406
?/? c.906T>C r.(=) p.(=) g.22892195A>G Copied from the Exome Variant Server PRAME_000036 35/13006 0/8600 35/4406
?/? c.953+45del r.(=) p.(=) g.22892103del Copied from the Exome Variant Server PRAME_000035 7/12516 4/8252 3/4264
?/? c.954-16C>A r.(=) p.(=) g.22891081G>T Copied from the Exome Variant Server PRAME_000034 6067/12978 4423/8580 1644/4398
?/? c.957C>T r.(=) p.(=) g.22891062G>A Copied from the Exome Variant Server PRAME_000033 4/13004 0/8598 4/4406
?/? c.998G>A r.(?) p.(Arg333Gln) g.22891021C>T Copied from the Exome Variant Server PRAME_000032 1/13006 0/8600 1/4406
?/? c.1005G>A r.(=) p.(=) g.22891014C>T Copied from the Exome Variant Server PRAME_000031 1/13006 0/8600 1/4406
?/? c.1037C>A r.(?) p.(Pro346His) g.22890982G>T Copied from the Exome Variant Server PRAME_000030 1/13006 1/8600 0/4406
?/? c.1041C>T r.(=) p.(=) g.22890978G>A Copied from the Exome Variant Server PRAME_000029 1/13006 0/8600 1/4406
?/? c.1078A>C r.(?) p.(Met360Leu) g.22890941T>G Copied from the Exome Variant Server PRAME_000028 3/13006 0/8600 3/4406
?/? c.1086C>T r.(=) p.(=) g.22890933G>A Copied from the Exome Variant Server PRAME_000027 30/13006 0/8600 30/4406
?/? c.1090G>A r.(?) p.(Val364Ile) g.22890929C>T Copied from the Exome Variant Server PRAME_000026 1/13006 1/8600 0/4406
?/? c.1091_1092insT r.(?) p.(Ser365Lysfs*22) g.22890927_22890928insA Copied from the Exome Variant Server PRAME_000025 1/12516 1/8254 0/4262
?/? c.1116G>C r.(=) p.(=) g.22890903C>G Copied from the Exome Variant Server PRAME_000024 16/13006 0/8600 16/4406
?/? c.1123A>G r.(?) p.(Arg375Gly) g.22890896T>C Copied from the Exome Variant Server PRAME_000023 1/13006 0/8600 1/4406
?/? c.1150G>A r.(?) p.(Val384Ile) g.22890869C>T Copied from the Exome Variant Server PRAME_000022 1/13006 1/8600 0/4406
?/? c.1194C>G r.(=) p.(=) g.22890825G>C Copied from the Exome Variant Server PRAME_000021 1/13006 1/8600 0/4406
?/? c.1204C>T r.(=) p.(=) g.22890815G>A Copied from the Exome Variant Server PRAME_000020 2/13006 2/8600 0/4406
?/? c.1227A>G r.(=) p.(=) g.22890792T>C Copied from the Exome Variant Server PRAME_000019 1545/13006 1304/8600 241/4406
?/? c.1242C>T r.(=) p.(=) g.22890777G>A Copied from the Exome Variant Server PRAME_000018 1/13006 1/8600 0/4406
?/? c.1263T>C r.(=) p.(=) g.22890756A>G Copied from the Exome Variant Server PRAME_000017 253/13006 3/8600 250/4406
?/? c.1267T>C r.(=) p.(=) g.22890752A>G Copied from the Exome Variant Server PRAME_000016 1545/13006 1305/8600 240/4406
?/? c.1297C>T r.(=) p.(=) g.22890722G>A Copied from the Exome Variant Server PRAME_000015 58/13006 0/8600 58/4406
?/? c.1304A>G r.(?) p.(Asn435Ser) g.22890715T>C Copied from the Exome Variant Server PRAME_000014 7/13006 7/8600 0/4406
?/? c.1315G>C r.(?) p.(Val439Leu) g.22890704C>G Copied from the Exome Variant Server PRAME_000013 2/13006 2/8600 0/4406
?/? c.1377G>T r.(?) p.(Arg459Ser) g.22890642C>A Copied from the Exome Variant Server PRAME_000012 3/13006 2/8600 1/4406
?/? c.1391_1393del r.(?) p.(His464_Ala465delinsPro) g.22890626_22890628del Copied from the Exome Variant Server PRAME_000011 1/12512 1/8248 0/4264
?/? c.1426C>A r.(=) p.(=) g.22890593G>T Copied from the Exome Variant Server PRAME_000010 1/13006 1/8600 0/4406
?/? c.1429C>A r.(?) p.(Pro477Thr) g.22890590G>T Copied from the Exome Variant Server PRAME_000009 1/13006 0/8600 1/4406
?/? c.1467C>T r.(=) p.(=) g.22890552G>A Copied from the Exome Variant Server PRAME_000008 56/13006 50/8600 6/4406
?/? c.1484_1486del r.(?) p.(Phe495del) g.22890533_22890535del Copied from the Exome Variant Server PRAME_000007 10/12518 9/8254 1/4264
?/? c.1491C>G r.(?) p.(Asp497Glu) g.22890528G>C Copied from the Exome Variant Server PRAME_000006 1/13006 0/8600 1/4406
?/? c.1512_1513del r.(?) p.(Cys505Phefs*4) g.22890506_22890507del Copied from the Exome Variant Server PRAME_000005 3/12518 1/8254 2/4264
?/? c.1513T>C r.(?) p.(Cys505Arg) g.22890506A>G Copied from the Exome Variant Server PRAME_000004 1/13006 1/8600 0/4406
?/? c.1527C>T r.(=) p.(=) g.22890492G>A Copied from the Exome Variant Server PRAME_000003 1504/13006 1301/8600 203/4406
?/? c.*3G>A r.(=) p.(=) g.22890486C>T Copied from the Exome Variant Server PRAME_000002 35/13006 0/8600 35/4406
?/? c.*42A>G r.(=) p.(=) g.22890447T>C Copied from the Exome Variant Server PRAME_000001 9/13006 8/8600 1/4406
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