Full data view for gene TGFA

Information The variants shown are described using the NM_001099691.2 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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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.11C>T r.(?) p.(Ser4Leu) g.70780889G>A Copied from the Exome Variant Server TGFA_000058 5/12492 0/8284 5/4208 - - - - - - -
?/? c.12G>T r.(=) p.(=) g.70780888C>A Copied from the Exome Variant Server TGFA_000057 1/12476 1/8270 0/4206 - - - - - - -
?/? c.30G>A r.(=) p.(=) g.70780870C>T Copied from the Exome Variant Server TGFA_000056 1/12454 1/8250 0/4204 - - - - - - -
?/? c.40+53_40+54insC r.(=) p.(=) g.70780806_70780807insG Copied from the Exome Variant Server TGFA_000055 22/9990 20/6734 2/3256 - - - - - - -
?/? c.41-62G>A r.(=) p.(=) g.70742106C>T Copied from the Exome Variant Server TGFA_000054 1/4566 1/3182 0/1384 - - - - - - -
?/? c.41-52A>T r.(=) p.(=) g.70742096T>A Copied from the Exome Variant Server TGFA_000053 1/7272 0/4618 1/2654 - - - - - - -
?/? c.41-50C>T r.(=) p.(=) g.70742094G>A Copied from the Exome Variant Server TGFA_000052 206/13006 15/8600 191/4406 - - - - - - -
?/? c.41-41A>G r.(=) p.(=) g.70742085T>C Copied from the Exome Variant Server TGFA_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.41-18T>C r.(=) p.(=) g.70742062A>G Copied from the Exome Variant Server TGFA_000050 4/13006 0/8600 4/4406 - - - - - - -
?/? c.41-7C>T r.(=) p.(=) g.70742051G>A Copied from the Exome Variant Server TGFA_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.41-6C>T r.(=) p.(=) g.70742050G>A Copied from the Exome Variant Server TGFA_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.41-4A>G r.spl? p.? g.70742048T>C Copied from the Exome Variant Server TGFA_000047 55/13006 0/8600 55/4406 - - - - - - -
?/? c.57G>C r.(=) p.(=) g.70742028C>G Copied from the Exome Variant Server TGFA_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.63G>A r.(=) p.(=) g.70742022C>T Copied from the Exome Variant Server TGFA_000045 128/13006 1/8600 127/4406 - - - - - - -
?/? c.75C>G r.(?) p.(Asn25Lys) g.70742010G>C Copied from the Exome Variant Server TGFA_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.80C>T r.(?) p.(Thr27Met) g.70742005G>A Copied from the Exome Variant Server TGFA_000043 2/13006 0/8600 2/4406 - - - - - - -
?/? c.86C>T r.(?) p.(Pro29Leu) g.70741999G>A Copied from the Exome Variant Server TGFA_000042 2/13006 2/8600 0/4406 - - - - - - -
?/? c.94+6T>C r.(=) p.(=) g.70741985A>G Copied from the Exome Variant Server TGFA_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.94+7G>A r.(=) p.(=) g.70741984C>T Copied from the Exome Variant Server TGFA_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.94+15C>T r.(=) p.(=) g.70741976G>A Copied from the Exome Variant Server TGFA_000039 11/13006 11/8600 0/4406 - - - - - - -
?/? c.95-51C>T r.(=) p.(=) g.70692916G>A Copied from the Exome Variant Server TGFA_000038 2/13006 0/8600 2/4406 - - - - - - -
?/? c.95-38C>G r.(=) p.(=) g.70692903G>C Copied from the Exome Variant Server TGFA_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.95-18C>A r.(=) p.(=) g.70692883G>T Copied from the Exome Variant Server TGFA_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.95-16T>C r.(=) p.(=) g.70692881A>G Copied from the Exome Variant Server TGFA_000035 1/13006 0/8600 1/4406 - - - - - - -
?/? c.99G>A r.(=) p.(=) g.70692861C>T Copied from the Exome Variant Server TGFA_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.103G>A r.(?) p.(Val35Met) g.70692857C>T Copied from the Exome Variant Server TGFA_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.113C>T r.(?) p.(Ala38Val) g.70692847G>A Copied from the Exome Variant Server TGFA_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.135C>T r.(=) p.(=) g.70692825G>A Copied from the Exome Variant Server TGFA_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.144T>C r.(=) p.(=) g.70692816A>G Copied from the Exome Variant Server TGFA_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.212+5G>A r.spl? p.? g.70692743C>T Copied from the Exome Variant Server TGFA_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.212+14G>C r.(=) p.(=) g.70692734C>G Copied from the Exome Variant Server TGFA_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.213-44G>C r.(=) p.(=) g.70683664C>G Copied from the Exome Variant Server TGFA_000022 1/12992 1/8594 0/4398 - - - - - - -
?/? c.213-18C>T r.(=) p.(=) g.70683638G>A Copied from the Exome Variant Server TGFA_000020 1/13002 1/8598 0/4404 - - - - - - -
?/? c.213-17G>A r.(=) p.(=) g.70683637C>T Copied from the Exome Variant Server TGFA_000031 2/13006 0/8600 2/4406 - - - - - - -
?/? c.228C>T r.(=) p.(=) g.70683605G>A Copied from the Exome Variant Server TGFA_000029 1/13004 0/8600 1/4404 - - - - - - -
?/? c.229G>A r.(?) p.(Val77Ile) g.70683604C>T Copied from the Exome Variant Server TGFA_000027 3/13004 0/8600 3/4404 - - - - - - -
?/? c.252G>A r.(=) p.(=) g.70683581C>T Copied from the Exome Variant Server TGFA_000025 1/13004 0/8600 1/4404 - - - - - - -
?/? c.273T>C r.(=) p.(=) g.70683560A>G Copied from the Exome Variant Server TGFA_000023 14/13000 0/8596 14/4404 - - - - - - -
?/? c.299C>G r.(?) p.(Thr100Ser) g.70683534G>C Copied from the Exome Variant Server TGFA_000021 1/13000 0/8594 1/4406 - - - - - - -
?/? c.300C>T r.(=) p.(=) g.70683533G>A Copied from the Exome Variant Server TGFA_000019 1/13002 1/8596 0/4406 - - - - - - -
?/? c.303C>G r.(=) p.(=) g.70683530G>C Copied from the Exome Variant Server TGFA_000018 6/13002 2/8596 4/4406 - - - - - - -
?/? c.315C>A r.(=) p.(=) g.70683518G>T Copied from the Exome Variant Server TGFA_000017 1/12998 1/8592 0/4406 - - - - - - -
?/? c.322G>A r.(?) p.(Val108Met) g.70683511C>T Copied from the Exome Variant Server TGFA_000016 146/12996 1/8590 145/4406 - - - - - - -
?/? c.363-10G>A r.(=) p.(=) g.70680469C>T Copied from the Exome Variant Server TGFA_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.377G>A r.(?) p.(Arg126Gln) g.70680445C>T Copied from the Exome Variant Server TGFA_000014 8/13006 0/8600 8/4406 - - - - - - -
?/? c.387_388del r.(?) p.(Cys129*) g.70680434_70680435del Copied from the Exome Variant Server TGFA_000013 1/12520 1/8254 0/4266 - - - - - - -
?/? c.398G>A r.(?) p.(Arg133Gln) g.70680424C>T Copied from the Exome Variant Server TGFA_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.412C>T r.(?) p.(Arg138Trp) g.70680410G>A Copied from the Exome Variant Server TGFA_000011 8/13006 0/8600 8/4406 - - - - - - -
?/? c.417C>T r.(=) p.(=) g.70680405G>A Copied from the Exome Variant Server TGFA_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.441G>A r.(=) p.(=) g.70680381C>T Copied from the Exome Variant Server TGFA_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.472+6G>A r.(=) p.(=) g.70680344C>T Copied from the Exome Variant Server TGFA_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.472+48G>A r.(=) p.(=) g.70680302C>T Copied from the Exome Variant Server TGFA_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.473-69_473-60del r.(=) p.(=) g.70678058_70678067del Copied from the Exome Variant Server TGFA_000006 4/12520 0/8254 4/4266 - - - - - - -
?/? c.473-50G>A r.(=) p.(=) g.70678048C>T Copied from the Exome Variant Server TGFA_000005 1/13006 0/8600 1/4406 - - - - - - -
?/? c.475G>A r.(?) p.(Val159Ile) g.70677996C>T Copied from the Exome Variant Server TGFA_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.477C>T r.(=) p.(=) g.70677994G>A Copied from the Exome Variant Server TGFA_000003 3059/13006 2330/8600 729/4406 - - - - - - -
?/? c.*5C>A r.(=) p.(=) g.70677986G>T Copied from the Exome Variant Server TGFA_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*27G>A r.(=) p.(=) g.70677964C>T Copied from the Exome Variant Server TGFA_000001 1/13006 1/8600 0/4406 - - - - - - -
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