Full data view for gene AMMECR1

Information The variants shown are described using the NM_001025580.1 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
Legend  

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.87C>T r.(=) p.(=) g.109561213G>A Copied from the Exome Variant Server AMMECR1_000035 1/10141 1/6470 0/3671 - - - - - - -
?/? c.91_93del r.(?) p.(Ser31del) g.109561207_109561209del Copied from the Exome Variant Server AMMECR1_000034 214/9534 159/6061 55/3473 - - - - - - -
?/? c.91_93dup r.(?) p.(Ser31dup) g.109561207_109561209dup Copied from the Exome Variant Server AMMECR1_000033 3/9534 1/6061 2/3473 - - - - - - -
?/? c.162C>T r.(=) p.(=) g.109561138G>A Copied from the Exome Variant Server AMMECR1_000032 1/10358 1/6621 0/3737 - - - - - - -
?/? c.219C>A r.(=) p.(=) g.109561081G>T Copied from the Exome Variant Server AMMECR1_000031 2/9488 2/6069 0/3419 - - - - - - -
?/? c.220_221insC r.(?) p.(Gln74Profs*88) g.109561079_109561080insG Copied from the Exome Variant Server AMMECR1_000030 48/8383 28/5371 20/3012 - - - - - - -
?/? c.240_242del r.(?) p.(Gly82del) g.109561058_109561060del Copied from the Exome Variant Server AMMECR1_000029 179/7788 122/4970 57/2818 - - - - - - -
?/? c.269G>A r.(?) p.(Ser90Asn) g.109561031C>T Copied from the Exome Variant Server AMMECR1_000028 1/10087 1/6425 0/3662 - - - - - - -
?/? c.283A>T r.(?) p.(Thr95Ser) g.109561017T>A Copied from the Exome Variant Server AMMECR1_000027 3/10238 0/6520 3/3718 - - - - - - -
?/? c.344C>T r.(?) p.(Ser115Leu) g.109560956G>A Copied from the Exome Variant Server AMMECR1_000026 1/10557 0/6725 1/3832 - - - - - - -
?/? c.369G>T r.(?) p.(Lys123Asn) g.109560931C>A Copied from the Exome Variant Server AMMECR1_000025 1/10562 0/6728 1/3834 - - - - - - -
?/? c.473+29C>T r.(=) p.(=) g.109560798G>A Copied from the Exome Variant Server AMMECR1_000024 3/10549 3/6719 0/3830 - - - - - - -
?/? c.473+45G>C r.(=) p.(=) g.109560782C>G Copied from the Exome Variant Server AMMECR1_000023 59/10526 52/6703 7/3823 - - - - - - -
?/? c.474-48005A>G r.(=) p.(=) g.109507865T>C Copied from the Exome Variant Server AMMECR1_000022 1/10562 0/6727 1/3835 - - - - - - -
?/? c.474-47938G>A r.(=) p.(=) g.109507798C>T Copied from the Exome Variant Server AMMECR1_000021 1/10563 0/6728 1/3835 - - - - - - -
?/? c.474-47810del r.(=) p.(=) g.109507670del Copied from the Exome Variant Server AMMECR1_000020 284/10200 171/6479 113/3721 - - - - - - -
?/? c.474-47810dup r.(=) p.(=) g.109507670dup Copied from the Exome Variant Server AMMECR1_000019 140/10200 103/6479 37/3721 - - - - - - -
?/? c.474-8451_474-8447del r.(=) p.(=) g.109468307_109468311del Copied from the Exome Variant Server AMMECR1_000018 3/5171 3/3414 0/1757 - - - - - - -
?/? c.474-8433T>C r.(=) p.(=) g.109468293A>G Copied from the Exome Variant Server AMMECR1_000017 1/4525 0/3107 1/1418 - - - - - - -
?/? c.474-8413C>T N/A N/A g.109468273G>A Copied from the Exome Variant Server AMMECR1_000016 1/4525 1/3107 0/1418 - - - - - - -
?/? c.474-43T>C r.(=) p.(=) g.109459903A>G Copied from the Exome Variant Server AMMECR1_000015 1/10560 0/6725 1/3835 - - - - - - -
?/? c.502A>G r.(?) p.(Met168Val) g.109459832T>C Copied from the Exome Variant Server AMMECR1_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.508A>G r.(?) p.(Arg170Gly) g.109459826T>C Copied from the Exome Variant Server AMMECR1_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.523C>T r.(?) p.(Arg175Trp) g.109459811G>A Copied from the Exome Variant Server AMMECR1_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.639A>G r.(=) p.(=) g.109445714T>C Copied from the Exome Variant Server AMMECR1_000011 24/10563 0/6728 24/3835 - - - - - - -
?/? c.680-26T>C r.(=) p.(=) g.109444304A>G Copied from the Exome Variant Server AMMECR1_000010 1/10563 0/6728 1/3835 - - - - - - -
?/? c.711A>G r.(=) p.(=) g.109444247T>C Copied from the Exome Variant Server AMMECR1_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.776+43T>A r.(=) p.(=) g.109444139A>T Copied from the Exome Variant Server AMMECR1_000008 19/10563 0/6728 19/3835 - - - - - - -
?/? c.776+44G>T r.(=) p.(=) g.109444138C>A Copied from the Exome Variant Server AMMECR1_000007 13/10563 0/6728 13/3835 - - - - - - -
?/? c.777-15C>T r.(=) p.(=) g.109441877G>A Copied from the Exome Variant Server AMMECR1_000006 2/10563 2/6728 0/3835 - - - - - - -
?/? c.820G>A r.(?) p.(Ala274Thr) g.109441819C>T Copied from the Exome Variant Server AMMECR1_000005 4/10563 3/6728 1/3835 - - - - - - -
?/? c.849T>C r.(=) p.(=) g.109441790A>G Copied from the Exome Variant Server AMMECR1_000004 38/10563 35/6728 3/3835 - - - - - - -
?/? c.854T>C r.(?) p.(Ile285Thr) g.109441785A>G Copied from the Exome Variant Server AMMECR1_000003 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*3C>A r.(=) p.(=) g.109441745G>T Copied from the Exome Variant Server AMMECR1_000002 2/10563 2/6728 0/3835 - - - - - - -
?/? c.*23C>T r.(=) p.(=) g.109441725G>A Copied from the Exome Variant Server AMMECR1_000001 1/10563 0/6728 1/3835 - - - - - - -
Legend