Full data view for gene DACH2

Information The variants shown are described using the NM_053281.3 transcript reference sequence.

69 entries on 1 page. Showing entries 1 - 69.
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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.-38G>A r.(=) p.(=) g.85403587G>A Copied from the Exome Variant Server DACH2_000001 1/10158 1/6454 0/3704 - - - - - - -
?/? c.-20A>G r.(=) p.(=) g.85403605A>G Copied from the Exome Variant Server DACH2_000002 1/10331 1/6569 0/3762 - - - - - - -
?/? c.23T>C r.(?) p.(Val8Ala) g.85403647T>C Copied from the Exome Variant Server DACH2_000003 1/10500 1/6676 0/3824 - - - - - - -
?/? c.107C>T r.(?) p.(Pro36Leu) g.85403731C>T Copied from the Exome Variant Server DACH2_000004 14/10563 12/6728 2/3835 - - - - - - -
?/? c.108T>A r.(=) p.(=) g.85403732T>A Copied from the Exome Variant Server DACH2_000005 1/10563 0/6728 1/3835 - - - - - - -
?/? c.172G>A r.(?) p.(Gly58Ser) g.85403796G>A Copied from the Exome Variant Server DACH2_000006 1/10563 0/6728 1/3835 - - - - - - -
?/? c.176G>A r.(?) p.(Gly59Asp) g.85403800G>A Copied from the Exome Variant Server DACH2_000007 2/10563 2/6728 0/3835 - - - - - - -
?/? c.210G>C r.(?) p.(Met70Ile) g.85403834G>C Copied from the Exome Variant Server DACH2_000008 1/10563 0/6728 1/3835 - - - - - - -
?/? c.279A>G r.(=) p.(=) g.85403903A>G Copied from the Exome Variant Server DACH2_000009 4/10563 4/6728 0/3835 - - - - - - -
?/? c.344G>C r.(?) p.(Arg115Thr) g.85403968G>C Copied from the Exome Variant Server DACH2_000010 1/10563 1/6728 0/3835 - - - - - - -
?/? c.397G>A r.(?) p.(Gly133Arg) g.85404021G>A Copied from the Exome Variant Server DACH2_000011 2/10562 2/6728 0/3834 - - - - - - -
?/? c.471C>T r.(=) p.(=) g.85404095C>T Copied from the Exome Variant Server DACH2_000012 1/10561 1/6726 0/3835 - - - - - - -
?/? c.489-36_489-33del r.(=) p.(=) g.85631791_85631794del Copied from the Exome Variant Server DACH2_000013 324/9997 216/6357 108/3640 - - - - - - -
?/? c.528-40C>G r.(=) p.(=) g.85769242C>G Copied from the Exome Variant Server DACH2_000014 7/10548 0/6716 7/3832 - - - - - - -
?/? c.528-26A>G r.(=) p.(=) g.85769256A>G Copied from the Exome Variant Server DACH2_000015 6/10560 6/6726 0/3834 - - - - - - -
?/? c.537C>T r.(=) p.(=) g.85769291C>T Copied from the Exome Variant Server DACH2_000016 2/10563 0/6728 2/3835 - - - - - - -
?/? c.538G>A r.(?) p.(Gly180Ser) g.85769292G>A Copied from the Exome Variant Server DACH2_000017 2/10563 2/6728 0/3835 - - - - - - -
?/? c.640+44C>T r.(=) p.(=) g.85769438C>T Copied from the Exome Variant Server DACH2_000018 61/10559 58/6724 3/3835 - - - - - - -
?/? c.640+49C>A r.(=) p.(=) g.85769443C>A Copied from the Exome Variant Server DACH2_000019 10/10558 0/6723 10/3835 - - - - - - -
?/? c.641-39T>C r.(=) p.(=) g.85906000T>C Copied from the Exome Variant Server DACH2_000020 2/10092 2/6434 0/3658 - - - - - - -
?/? c.641-13A>C r.(=) p.(=) g.85906026A>C Copied from the Exome Variant Server DACH2_000021 1/10555 1/6723 0/3832 - - - - - - -
?/? c.656C>T r.(?) p.(Ala219Val) g.85906054C>T Copied from the Exome Variant Server DACH2_000022 5/10563 5/6728 0/3835 - - - - - - -
?/? c.738C>A r.(=) p.(=) g.85906136C>A Copied from the Exome Variant Server DACH2_000023 1/10562 0/6727 1/3835 - - - - - - -
?/? c.741A>G r.(=) p.(=) g.85906139A>G Copied from the Exome Variant Server DACH2_000024 1/10562 1/6727 0/3835 - - - - - - -
?/? c.772+35T>C r.(=) p.(=) g.85906205T>C Copied from the Exome Variant Server DACH2_000025 1/10563 0/6728 1/3835 - - - - - - -
?/? c.772+40G>A r.(=) p.(=) g.85906210G>A Copied from the Exome Variant Server DACH2_000026 2/10563 2/6728 0/3835 - - - - - - -
?/? c.772+43C>T r.(=) p.(=) g.85906213C>T Copied from the Exome Variant Server DACH2_000027 3387/10563 1723/6728 1664/3835 - - - - - - -
?/? c.793G>A r.(?) p.(Asp265Asn) g.85950044G>A Copied from the Exome Variant Server DACH2_000028 4/10563 0/6728 4/3835 - - - - - - -
?/? c.801T>C r.(=) p.(=) g.85950052T>C Copied from the Exome Variant Server DACH2_000029 1/10563 0/6728 1/3835 - - - - - - -
?/? c.827C>A r.(?) p.(Pro276His) g.85950078C>A Copied from the Exome Variant Server DACH2_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.834C>G r.(=) p.(=) g.85950085C>G Copied from the Exome Variant Server DACH2_000031 5/10563 5/6728 0/3835 - - - - - - -
?/? c.844A>C r.(?) p.(Ile282Leu) g.85950095A>C Copied from the Exome Variant Server DACH2_000032 1/10563 1/6728 0/3835 - - - - - - -
?/? c.866G>A r.(?) p.(Gly289Asp) g.85950117G>A Copied from the Exome Variant Server DACH2_000033 1/10563 0/6728 1/3835 - - - - - - -
?/? c.932-11G>C r.(=) p.(=) g.85969540G>C Copied from the Exome Variant Server DACH2_000034 4/10563 2/6728 2/3835 - - - - - - -
?/? c.963T>C r.(=) p.(=) g.85969582T>C Copied from the Exome Variant Server DACH2_000035 11/10563 0/6728 11/3835 - - - - - - -
?/? c.1010T>C r.(?) p.(Met337Thr) g.85969629T>C Copied from the Exome Variant Server DACH2_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1091C>T r.(?) p.(Thr364Ile) g.85969710C>T Copied from the Exome Variant Server DACH2_000037 6/10563 3/6728 3/3835 - - - - - - -
?/? c.1104+36A>C r.(=) p.(=) g.85969759A>C Copied from the Exome Variant Server DACH2_000038 562/10562 5/6728 557/3834 - - - - - - -
?/? c.1105-30C>G r.(=) p.(=) g.85994720C>G Copied from the Exome Variant Server DACH2_000039 1/10188 1/6438 0/3750 - - - - - - -
?/? c.1116A>G r.(=) p.(=) g.85994761A>G Copied from the Exome Variant Server DACH2_000040 1/10538 1/6712 0/3826 - - - - - - -
?/? c.1235G>A r.(?) p.(Arg412Lys) g.85994880G>A Copied from the Exome Variant Server DACH2_000041 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1241-44G>A r.(=) p.(=) g.86067815G>A Copied from the Exome Variant Server DACH2_000042 12/10562 12/6728 0/3834 - - - - - - -
?/? c.1245G>C r.(?) p.(Glu415Asp) g.86067863G>C Copied from the Exome Variant Server DACH2_000043 10/10563 10/6728 0/3835 - - - - - - -
?/? c.1289T>A r.(?) p.(Ile430Lys) g.86067907T>A Copied from the Exome Variant Server DACH2_000044 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1363G>A r.(?) p.(Val455Met) g.86067981G>A Copied from the Exome Variant Server DACH2_000045 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1390-15C>T r.(=) p.(=) g.86068118C>T Copied from the Exome Variant Server DACH2_000046 1/10558 1/6724 0/3834 - - - - - - -
?/? c.1537+27G>C r.(=) p.(=) g.86068307G>C Copied from the Exome Variant Server DACH2_000047 1/10548 1/6716 0/3832 - - - - - - -
?/? c.1537+42G>C r.(=) p.(=) g.86068322G>C Copied from the Exome Variant Server DACH2_000048 359/10528 4/6707 355/3821 - - - - - - -
?/? c.1538-47C>T r.(=) p.(=) g.86069644C>T Copied from the Exome Variant Server DACH2_000049 1/10557 1/6726 0/3831 - - - - - - -
?/? c.1552C>T r.(?) p.(Arg518Cys) g.86069705C>T Copied from the Exome Variant Server DACH2_000050 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1553G>A r.(?) p.(Arg518His) g.86069706G>A Copied from the Exome Variant Server DACH2_000051 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1615C>T r.(?) p.(Arg539Cys) g.86069768C>T Copied from the Exome Variant Server DACH2_000052 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1616G>A r.(?) p.(Arg539His) g.86069769G>A Copied from the Exome Variant Server DACH2_000053 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1654A>G r.(?) p.(Thr552Ala) g.86069807A>G Copied from the Exome Variant Server DACH2_000054 2/10563 1/6728 1/3835 - - - - - - -
?/? c.1677G>A r.(?) p.(Met559Ile) g.86069830G>A Copied from the Exome Variant Server DACH2_000055 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1680A>C r.(?) p.(Leu560Phe) g.86069833A>C Copied from the Exome Variant Server DACH2_000056 4/10563 4/6728 0/3835 - - - - - - -
?/? c.1685-29A>G r.(=) p.(=) g.86071008A>G Copied from the Exome Variant Server DACH2_000057 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1686T>C r.(=) p.(=) g.86071038T>C Copied from the Exome Variant Server DACH2_000058 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1693A>G r.(?) p.(Ile565Val) g.86071045A>G Copied from the Exome Variant Server DACH2_000059 1/10561 1/6726 0/3835 - - - - - - -
?/? c.1722G>A r.(=) p.(=) g.86071074G>A Copied from the Exome Variant Server DACH2_000060 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1732G>T r.(?) p.(Asp578Tyr) g.86071084G>T Copied from the Exome Variant Server DACH2_000061 3/10563 3/6728 0/3835 - - - - - - -
?/? c.1746G>A r.(?) p.(Met582Ile) g.86071098G>A Copied from the Exome Variant Server DACH2_000062 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1750+49C>G r.(=) p.(=) g.86071151C>G Copied from the Exome Variant Server DACH2_000063 3718/10563 2869/6728 849/3835 - - - - - - -
?/? c.1751-4325C>T r.(=) p.(=) g.86082784C>T Copied from the Exome Variant Server DACH2_000064 42/3600 0/2391 42/1209 - - - - - - -
?/? c.1751-13_1751-12insT r.(=) p.(=) g.86087096_86087097insT Copied from the Exome Variant Server DACH2_000065 28/10199 20/6480 8/3719 - - - - - - -
?/? c.1751-4_1751-3insAAG r.spl? p.? g.86087105_86087106insAAG Copied from the Exome Variant Server DACH2_000067 1/10202 1/6483 0/3719 - - - - - - -
?/? c.1797C>T r.(=) p.(=) g.86087155C>T Copied from the Exome Variant Server DACH2_000066 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*14G>A r.(=) p.(=) g.86087172G>A Copied from the Exome Variant Server DACH2_000068 15/10562 2/6727 13/3835 - - - - - - -
?/? c.*38T>C r.(=) p.(=) g.86087196T>C Copied from the Exome Variant Server DACH2_000069 1/10560 1/6727 0/3833 - - - - - - -
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