Full data view for gene TGFB3

Information The variants shown are described using the NM_003239.2 transcript reference sequence.

63 entries on 1 page. Showing entries 1 - 63.
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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.-42C>T r.(=) p.(=) g.76447278G>A Copied from the Exome Variant Server TGFB3_000063 1/12958 0/8582 1/4376 - - - - - - -
?/? c.-31C>T r.(=) p.(=) g.76447267G>A Copied from the Exome Variant Server TGFB3_000062 1/12990 1/8594 0/4396 - - - - - - -
?/? c.1A>G r.? p.? g.76447236T>C Copied from the Exome Variant Server TGFB3_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.11A>G r.(?) p.(His4Arg) g.76447226T>C Copied from the Exome Variant Server TGFB3_000060 2/13006 2/8600 0/4406 - - - - - - -
?/? c.16C>G r.(?) p.(Gln6Glu) g.76447221G>C Copied from the Exome Variant Server TGFB3_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.34C>T r.(=) p.(=) g.76447203G>A Copied from the Exome Variant Server TGFB3_000058 20/13006 0/8600 20/4406 - - - - - - -
?/? c.39C>T r.(=) p.(=) g.76447198G>A Copied from the Exome Variant Server TGFB3_000057 54/13006 0/8600 54/4406 - - - - - - -
?/? c.164G>A r.(?) p.(Ser55Asn) g.76447073C>T Copied from the Exome Variant Server TGFB3_000056 12/13006 0/8600 12/4406 - - - - - - -
?/? c.179C>T r.(?) p.(Thr60Met) g.76447058G>A Copied from the Exome Variant Server TGFB3_000055 5/13006 0/8600 5/4406 - - - - - - -
?/? c.192C>T r.(=) p.(=) g.76447045G>A Copied from the Exome Variant Server TGFB3_000054 3/13006 3/8600 0/4406 - - - - - - -
?/? c.229C>G r.(?) p.(Arg77Gly) g.76447008G>C Copied from the Exome Variant Server TGFB3_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.235C>G r.(?) p.(Leu79Val) g.76447002G>C Copied from the Exome Variant Server TGFB3_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.288C>G r.(=) p.(=) g.76446949G>C Copied from the Exome Variant Server TGFB3_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.293C>T r.(?) p.(Ser98Leu) g.76446944G>A Copied from the Exome Variant Server TGFB3_000050 8/13006 8/8600 0/4406 - - - - - - -
?/? c.343G>A r.(?) p.(Ala115Thr) g.76446894C>T Copied from the Exome Variant Server TGFB3_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.351C>T r.(=) p.(=) g.76446886G>A Copied from the Exome Variant Server TGFB3_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.354C>T r.(=) p.(=) g.76438060G>A Copied from the Exome Variant Server TGFB3_000047 5/13006 0/8600 5/4406 - - - - - - -
?/? c.487C>T r.(?) p.(Arg163Trp) g.76437927G>A Copied from the Exome Variant Server TGFB3_000046 2/13006 0/8600 2/4406 - - - - - - -
?/? c.504C>T r.(=) p.(=) g.76437910G>A Copied from the Exome Variant Server TGFB3_000045 4/13006 3/8600 1/4406 - - - - - - -
?/? c.516+31C>T r.(=) p.(=) g.76437867G>A Copied from the Exome Variant Server TGFB3_000044 23/13006 1/8600 22/4406 - - - - - - -
?/? c.516+32G>T r.(=) p.(=) g.76437866C>A Copied from the Exome Variant Server TGFB3_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.516+34C>T r.(=) p.(=) g.76437864G>A Copied from the Exome Variant Server TGFB3_000041 3/13006 3/8600 0/4406 - - - - - - -
?/? c.516+37G>A r.(=) p.(=) g.76437861C>T Copied from the Exome Variant Server TGFB3_000042 35/13006 0/8600 35/4406 - - - - - - -
?/? c.516+45G>T r.(=) p.(=) g.76437853C>A Copied from the Exome Variant Server TGFB3_000040 8/13006 8/8600 0/4406 - - - - - - -
?/? c.517-40G>C r.(=) p.(=) g.76437638C>G Copied from the Exome Variant Server TGFB3_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.517-30C>T r.(=) p.(=) g.76437628G>A Copied from the Exome Variant Server TGFB3_000038 2/13006 1/8600 1/4406 - - - - - - -
?/? c.517-21A>G r.(=) p.(=) g.76437619T>C Copied from the Exome Variant Server TGFB3_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.517-10T>C r.(=) p.(=) g.76437608A>G Copied from the Exome Variant Server TGFB3_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.525G>C r.(=) p.(=) g.76437590C>G Copied from the Exome Variant Server TGFB3_000035 1/13006 0/8600 1/4406 - - - - - - -
?/? c.534G>A r.(=) p.(=) g.76437581C>T Copied from the Exome Variant Server TGFB3_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.558C>T r.(=) p.(=) g.76437557G>A Copied from the Exome Variant Server TGFB3_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.580C>T r.(?) p.(Arg194Trp) g.76437535G>A Copied from the Exome Variant Server TGFB3_000032 2/13006 2/8600 0/4406 - - - - - - -
?/? c.591C>T r.(=) p.(=) g.76437524G>A Copied from the Exome Variant Server TGFB3_000031 2/13006 2/8600 0/4406 - - - - - - -
?/? c.646+26T>C r.(=) p.(=) g.76437443A>G Copied from the Exome Variant Server TGFB3_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.647-35G>A r.(=) p.(=) g.76432073C>T Copied from the Exome Variant Server TGFB3_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.647-31C>A r.(=) p.(=) g.76432069G>T Copied from the Exome Variant Server TGFB3_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.647-24C>T r.(=) p.(=) g.76432062G>A Copied from the Exome Variant Server TGFB3_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.647-12C>G r.(=) p.(=) g.76432050G>C Copied from the Exome Variant Server TGFB3_000026 3/13006 3/8600 0/4406 - - - - - - -
?/? c.648G>A r.(=) p.(=) g.76432037C>T Copied from the Exome Variant Server TGFB3_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.744C>A r.(=) p.(=) g.76431941G>T Copied from the Exome Variant Server TGFB3_000024 21/13006 21/8600 0/4406 - - - - - - -
?/? c.754+43_754+44insG r.(=) p.(=) g.76431887_76431888insC Copied from the Exome Variant Server TGFB3_000023 20/12518 9/8254 11/4264 - - - - - - -
?/? c.755-47T>C r.(=) p.(=) g.76429877A>G Copied from the Exome Variant Server TGFB3_000022 2/13006 2/8600 0/4406 - - - - - - -
?/? c.755-38T>C r.(=) p.(=) g.76429868A>G Copied from the Exome Variant Server TGFB3_000021 1903/13006 659/8600 1244/4406 - - - - - - -
?/? c.756C>T r.(=) p.(=) g.76429829G>A Copied from the Exome Variant Server TGFB3_000020 2/13006 0/8600 2/4406 - - - - - - -
?/? c.792G>A r.(=) p.(=) g.76429793C>T Copied from the Exome Variant Server TGFB3_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.797G>A r.(?) p.(Arg266His) g.76429788C>T Copied from the Exome Variant Server TGFB3_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.813G>C r.(?) p.(Lys271Asn) g.76429772C>G Copied from the Exome Variant Server TGFB3_000017 3/13006 3/8600 0/4406 - - - - - - -
?/? c.872C>T r.(?) p.(Pro291Leu) g.76429713G>A Copied from the Exome Variant Server TGFB3_000016 2/13006 0/8600 2/4406 - - - - - - -
?/? c.873G>A r.(=) p.(=) g.76429712C>T Copied from the Exome Variant Server TGFB3_000015 4/13006 4/8600 0/4406 - - - - - - -
?/? c.914A>G r.(?) p.(Asn305Ser) g.76429671T>C Copied from the Exome Variant Server TGFB3_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.926+17A>G r.(=) p.(=) g.76429642T>C Copied from the Exome Variant Server TGFB3_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.927-4G>A r.spl? p.? g.76427423C>T Copied from the Exome Variant Server TGFB3_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1081-45del r.(=) p.(=) g.76425733del Copied from the Exome Variant Server TGFB3_000011 2/12518 2/8254 0/4264 - - - - - - -
?/? c.1081-37T>G r.(=) p.(=) g.76425725A>C Copied from the Exome Variant Server TGFB3_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1081-26C>G r.(=) p.(=) g.76425714G>C Copied from the Exome Variant Server TGFB3_000009 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1122C>G r.(=) p.(=) g.76425647G>C Copied from the Exome Variant Server TGFB3_000008 161/13006 2/8600 159/4406 - - - - - - -
?/? c.1155C>G r.(=) p.(=) g.76425614G>C Copied from the Exome Variant Server TGFB3_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1167G>A r.(=) p.(=) g.76425602C>T Copied from the Exome Variant Server TGFB3_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1209C>T r.(=) p.(=) g.76425560G>A Copied from the Exome Variant Server TGFB3_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1230A>G r.(=) p.(=) g.76425539T>C Copied from the Exome Variant Server TGFB3_000004 3/13006 3/8600 0/4406 - - - - - - -
?/? c.*9G>A r.(=) p.(=) g.76425521C>T Copied from the Exome Variant Server TGFB3_000003 67/13006 0/8600 67/4406 - - - - - - -
?/? c.*13G>A r.(=) p.(=) g.76425517C>T Copied from the Exome Variant Server TGFB3_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*41C>T r.(=) p.(=) g.76425489G>A Copied from the Exome Variant Server TGFB3_000001 1/13006 0/8600 1/4406 - - - - - - -
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