All transcript variants in gene DTL

Information The variants shown are described using the NM_016448.2 transcript reference sequence.

125 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.-28C>T r.(=) p.(=) g.212209205C>T Copied from the Exome Variant Server DTL_000001 1/13006 0/8600 1/4406
?/? c.-12C>T r.(=) p.(=) g.212209221C>T Copied from the Exome Variant Server DTL_000002 2/13006 0/8600 2/4406
?/? c.-3C>T r.(=) p.(=) g.212209230C>T Copied from the Exome Variant Server DTL_000003 5/13006 5/8600 0/4406
?/? c.11A>G r.(?) p.(Asn4Ser) g.212209243A>G Copied from the Exome Variant Server DTL_000004 3/13006 3/8600 0/4406
?/? c.43C>T r.(=) p.(=) g.212209275C>T Copied from the Exome Variant Server DTL_000005 2/13006 0/8600 2/4406
?/? c.51T>C r.(=) p.(=) g.212209283T>C Copied from the Exome Variant Server DTL_000006 1/13006 1/8600 0/4406
?/? c.52+17A>G r.(=) p.(=) g.212209301A>G Copied from the Exome Variant Server DTL_000007 12/13006 1/8600 11/4406
?/? c.52+26C>T r.(=) p.(=) g.212209310C>T Copied from the Exome Variant Server DTL_000008 1/13006 0/8600 1/4406
?/? c.52+48C>T r.(=) p.(=) g.212209332C>T Copied from the Exome Variant Server DTL_000009 1/13006 0/8600 1/4406
?/? c.52+49C>T r.(=) p.(=) g.212209333C>T Copied from the Exome Variant Server DTL_000010 2/13006 1/8600 1/4406
?/? c.53-30G>A r.(=) p.(=) g.212216305G>A Copied from the Exome Variant Server DTL_000011 4/13006 2/8600 2/4406
?/? c.57G>A r.(?) p.(Trp19*) g.212216339G>A Copied from the Exome Variant Server DTL_000012 1/13006 0/8600 1/4406
?/? c.87G>A r.(=) p.(=) g.212216369G>A Copied from the Exome Variant Server DTL_000013 49/13006 45/8600 4/4406
?/? c.129T>C r.(=) p.(=) g.212216411T>C Copied from the Exome Variant Server DTL_000014 1/13006 0/8600 1/4406
?/? c.178+15A>G r.(=) p.(=) g.212216475A>G Copied from the Exome Variant Server DTL_000015 1/13006 1/8600 0/4406
?/? c.178+30G>A r.(=) p.(=) g.212216490G>A Copied from the Exome Variant Server DTL_000016 1/13004 1/8600 0/4404
?/? c.179-31_179-30insTT r.(=) p.(=) g.212217971_212217972insTT Copied from the Exome Variant Server DTL_000017 7518/12458 5316/8236 2202/4222
?/? c.193C>A r.(?) p.(His65Asn) g.212218016C>A Copied from the Exome Variant Server DTL_000018 1/13006 1/8600 0/4406
?/? c.229C>A r.(=) p.(=) g.212218052C>A Copied from the Exome Variant Server DTL_000019 1/13006 1/8600 0/4406
?/? c.234G>A r.(=) p.(=) g.212218057G>A Copied from the Exome Variant Server DTL_000020 1/13006 1/8600 0/4406
?/? c.238A>G r.(?) p.(Asn80Asp) g.212218061A>G Copied from the Exome Variant Server DTL_000021 1/13006 1/8600 0/4406
?/? c.240C>T r.(=) p.(=) g.212218063C>T Copied from the Exome Variant Server DTL_000022 1/13006 0/8600 1/4406
?/? c.252A>G r.(=) p.(=) g.212218075A>G Copied from the Exome Variant Server DTL_000023 1/13006 1/8600 0/4406
?/? c.274A>G r.(?) p.(Lys92Glu) g.212218097A>G Copied from the Exome Variant Server DTL_000024 1/13006 0/8600 1/4406
?/? c.277+9A>G r.(=) p.(=) g.212218109A>G Copied from the Exome Variant Server DTL_000025 6/13002 0/8596 6/4406
?/? c.278-13T>C r.(=) p.(=) g.212220480T>C Copied from the Exome Variant Server DTL_000026 4/13006 0/8600 4/4406
?/? c.278-7T>C r.(=) p.(=) g.212220486T>C Copied from the Exome Variant Server DTL_000027 150/13006 1/8600 149/4406
?/? c.339+20T>C r.(=) p.(=) g.212220574T>C Copied from the Exome Variant Server DTL_000028 22/13006 20/8600 2/4406
?/? c.339+30G>A r.(=) p.(=) g.212220584G>A Copied from the Exome Variant Server DTL_000029 1/13006 1/8600 0/4406
?/? c.389G>C r.(?) p.(Gly130Ala) g.212220688G>C Copied from the Exome Variant Server DTL_000030 1/13006 1/8600 0/4406
?/? c.396G>C r.(=) p.(=) g.212220695G>C Copied from the Exome Variant Server DTL_000031 29/13006 0/8600 29/4406
?/? c.420A>G r.(=) p.(=) g.212220719A>G Copied from the Exome Variant Server DTL_000032 22/13006 20/8600 2/4406
?/? c.461-20_461-18del r.(=) p.(=) g.212236206_212236208del Copied from the Exome Variant Server DTL_000033 2/12520 0/8254 2/4266
?/? c.461-17T>C r.(=) p.(=) g.212236209T>C Copied from the Exome Variant Server DTL_000034 1/13006 1/8600 0/4406
?/? c.486T>C r.(=) p.(=) g.212236251T>C Copied from the Exome Variant Server DTL_000035 8/13006 0/8600 8/4406
?/? c.526+15_526+16del r.(=) p.(=) g.212236306_212236307del Copied from the Exome Variant Server DTL_000036 2/12520 0/8254 2/4266
?/? c.526+38T>C r.(=) p.(=) g.212236329T>C Copied from the Exome Variant Server DTL_000037 1/13006 1/8600 0/4406
?/? c.526+46T>G r.(=) p.(=) g.212236337T>G Copied from the Exome Variant Server DTL_000038 1/13006 0/8600 1/4406
?/? c.526+48C>A r.(=) p.(=) g.212236339C>A Copied from the Exome Variant Server DTL_000039 1/13006 0/8600 1/4406
?/? c.527-46G>A r.(=) p.(=) g.212238213G>A Copied from the Exome Variant Server DTL_000040 145/13006 137/8600 8/4406
?/? c.527-40A>G r.(=) p.(=) g.212238219A>G Copied from the Exome Variant Server DTL_000041 3/13006 0/8600 3/4406
?/? c.527-13G>T r.(=) p.(=) g.212238246G>T Copied from the Exome Variant Server DTL_000042 1/13006 1/8600 0/4406
?/? c.614A>T r.(?) p.(Asn205Ile) g.212238346A>T Copied from the Exome Variant Server DTL_000043 1/13006 1/8600 0/4406
?/? c.639+42G>C r.(=) p.(=) g.212238413G>C Copied from the Exome Variant Server DTL_000045 1/13006 0/8600 1/4406
?/? c.639+43T>A r.(=) p.(=) g.212238414T>A Copied from the Exome Variant Server DTL_000047 1/13006 0/8600 1/4406
?/? c.679G>A r.(?) p.(Glu227Lys) g.212240193G>A Copied from the Exome Variant Server DTL_000049 3/13006 1/8600 2/4406
?/? c.713+8_713+9del r.(=) p.(=) g.212240235_212240236del Copied from the Exome Variant Server DTL_000051 1/12520 0/8254 1/4266
?/? c.713+15del r.(=) p.(=) g.212240242del Copied from the Exome Variant Server DTL_000053 1/12520 1/8254 0/4266
?/? c.713+30G>A r.(=) p.(=) g.212240257G>A Copied from the Exome Variant Server DTL_000055 411/13006 188/8600 223/4406
?/? c.713+65C>T r.(=) p.(=) g.212240292C>T Copied from the Exome Variant Server DTL_000044 19/4566 18/3182 1/1384
?/? c.714-28C>A r.(=) p.(=) g.212241538C>A Copied from the Exome Variant Server DTL_000046 2/13004 0/8598 2/4406
?/? c.754T>C r.(?) p.(Tyr252His) g.212241606T>C Copied from the Exome Variant Server DTL_000048 2/13006 2/8600 0/4406
?/? c.807T>G r.(=) p.(=) g.212241659T>G Copied from the Exome Variant Server DTL_000050 1/13006 1/8600 0/4406
?/? c.817+14A>G r.(=) p.(=) g.212241683A>G Copied from the Exome Variant Server DTL_000052 1/13006 0/8600 1/4406
?/? c.818-45A>G r.(=) p.(=) g.212241896A>G Copied from the Exome Variant Server DTL_000054 1/13006 1/8600 0/4406
?/? c.818-42C>T r.(=) p.(=) g.212241899C>T Copied from the Exome Variant Server DTL_000056 3/13006 3/8600 0/4406
?/? c.818-29A>T r.(=) p.(=) g.212241912A>T Copied from the Exome Variant Server DTL_000057 1/13006 1/8600 0/4406
?/? c.818-28C>T r.(=) p.(=) g.212241913C>T Copied from the Exome Variant Server DTL_000058 1/13006 0/8600 1/4406
?/? c.818-19T>C r.(=) p.(=) g.212241922T>C Copied from the Exome Variant Server DTL_000059 1/13006 1/8600 0/4406
?/? c.818-12T>A r.(=) p.(=) g.212241929T>A Copied from the Exome Variant Server DTL_000060 1/13006 1/8600 0/4406
?/? c.825A>G r.(=) p.(=) g.212241948A>G Copied from the Exome Variant Server DTL_000061 24/13006 22/8600 2/4406
?/? c.876C>T r.(=) p.(=) g.212241999C>T Copied from the Exome Variant Server DTL_000062 50/13006 0/8600 50/4406
?/? c.919C>T r.(?) p.(Pro307Ser) g.212242042C>T Copied from the Exome Variant Server DTL_000064 2/13006 2/8600 0/4406
?/? c.922+17T>C r.(=) p.(=) g.212242062T>C Copied from the Exome Variant Server DTL_000066 1/13000 1/8598 0/4402
?/? c.922+28_922+29insA r.(=) p.(=) g.212242073_212242074insA Copied from the Exome Variant Server DTL_000068 1/12512 0/8252 1/4260
?/? c.922+36A>G r.(=) p.(=) g.212242081A>G Copied from the Exome Variant Server DTL_000070 2/12998 1/8600 1/4398
?/? c.922+47G>T r.(=) p.(=) g.212242092G>T Copied from the Exome Variant Server DTL_000072 1/12980 0/8594 1/4386
?/? c.923-43G>C r.(=) p.(=) g.212245400G>C Copied from the Exome Variant Server DTL_000074 2/13004 2/8598 0/4406
?/? c.923-18G>T r.(=) p.(=) g.212245425G>T Copied from the Exome Variant Server DTL_000076 6/13006 6/8600 0/4406
?/? c.933C>G r.(?) p.(Phe311Leu) g.212245453C>G Copied from the Exome Variant Server DTL_000078 4/13006 3/8600 1/4406
?/? c.935A>G r.(?) p.(Asn312Ser) g.212245455A>G Copied from the Exome Variant Server DTL_000080 3/13006 3/8600 0/4406
?/? c.957T>C r.(=) p.(=) g.212245477T>C Copied from the Exome Variant Server DTL_000082 1/13006 1/8600 0/4406
?/? c.1027A>G r.(?) p.(Ile343Val) g.212245547A>G Copied from the Exome Variant Server DTL_000084 1/13006 1/8600 0/4406
?/? c.1035+14C>T r.(=) p.(=) g.212245569C>T Copied from the Exome Variant Server DTL_000085 2/13006 2/8600 0/4406
?/? c.1035+39G>A r.(=) p.(=) g.212245594G>A Copied from the Exome Variant Server DTL_000063 1/13006 1/8600 0/4406
?/? c.1036-32T>C r.(=) p.(=) g.212251483T>C Copied from the Exome Variant Server DTL_000065 3/13006 3/8600 0/4406
?/? c.1036-13T>C r.(=) p.(=) g.212251502T>C Copied from the Exome Variant Server DTL_000067 162/13006 1/8600 161/4406
?/? c.1065G>A r.(=) p.(=) g.212251544G>A Copied from the Exome Variant Server DTL_000069 1/13004 1/8598 0/4406
?/? c.1126-39del r.(=) p.(=) g.212253918del Copied from the Exome Variant Server DTL_000071 778/12518 587/8252 191/4266
?/? c.1126-15del r.(=) p.(=) g.212253942del Copied from the Exome Variant Server DTL_000073 1/12518 1/8252 0/4266
?/? c.1126-13T>C r.(=) p.(=) g.212253944T>C Copied from the Exome Variant Server DTL_000075 1/13004 1/8598 0/4406
?/? c.1126-10T>G r.(=) p.(=) g.212253947T>G Copied from the Exome Variant Server DTL_000077 1/13004 0/8598 1/4406
?/? c.1161C>T r.(=) p.(=) g.212253992C>T Copied from the Exome Variant Server DTL_000079 1/13006 1/8600 0/4406
?/? c.1170G>A r.(=) p.(=) g.212254001G>A Copied from the Exome Variant Server DTL_000081 1/13006 1/8600 0/4406
?/? c.1202A>G r.(?) p.(Asp401Gly) g.212254033A>G Copied from the Exome Variant Server DTL_000083 1/13006 1/8600 0/4406
?/? c.1215G>A r.(=) p.(=) g.212254046G>A Copied from the Exome Variant Server DTL_000086 3/13006 2/8600 1/4406
?/? c.1261+13T>C r.(=) p.(=) g.212254105T>C Copied from the Exome Variant Server DTL_000087 164/13006 1/8600 163/4406
?/? c.1261+17C>T r.(=) p.(=) g.212254109C>T Copied from the Exome Variant Server DTL_000088 1/13004 1/8600 0/4404
?/? c.1261+20T>G r.(=) p.(=) g.212254112T>G Copied from the Exome Variant Server DTL_000089 1/13004 0/8600 1/4404
?/? c.1261+43A>G r.(=) p.(=) g.212254135A>G Copied from the Exome Variant Server DTL_000090 80/13004 0/8600 80/4404
?/? c.1262-29G>A r.(=) p.(=) g.212273565G>A Copied from the Exome Variant Server DTL_000091 3/13006 0/8600 3/4406
?/? c.1262-28A>T r.(=) p.(=) g.212273566A>T Copied from the Exome Variant Server DTL_000092 4/13006 0/8600 4/4406
?/? c.1262-26C>T r.(=) p.(=) g.212273568C>T Copied from the Exome Variant Server DTL_000093 1/13006 1/8600 0/4406
?/? c.1271C>T r.(?) p.(Thr424Met) g.212273603C>T Copied from the Exome Variant Server DTL_000094 69/13006 0/8600 69/4406
?/? c.1274G>A r.(?) p.(Ser425Asn) g.212273606G>A Copied from the Exome Variant Server DTL_000095 371/13006 335/8600 36/4406
?/? c.1279C>T r.(?) p.(Gln427*) g.212273611C>T Copied from the Exome Variant Server DTL_000096 1/13006 1/8600 0/4406
?/? c.1307C>T r.(?) p.(Ala436Val) g.212273639C>T Copied from the Exome Variant Server DTL_000097 12347/13006 8297/8600 4050/4406
?/? c.1335G>A r.(=) p.(=) g.212273667G>A Copied from the Exome Variant Server DTL_000098 2/13006 1/8600 1/4406
?/? c.1407T>G r.(?) p.(Ile469Met) g.212273739T>G Copied from the Exome Variant Server DTL_000099 1/13006 0/8600 1/4406
?/? c.1465G>A r.(?) p.(Val489Ile) g.212273797G>A Copied from the Exome Variant Server DTL_000100 49/13006 2/8600 47/4406
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