All transcript variants in gene SYAP1

Information The variants shown are described using the NM_032796.3 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.77C>T r.(?) p.(Pro26Leu) g.16737924C>T Copied from the Exome Variant Server SYAP1_000001 2/10500 2/6688 0/3812
?/? c.93C>G r.(=) p.(=) g.16737940C>G Copied from the Exome Variant Server SYAP1_000002 8/10524 0/6704 8/3820
?/? c.99G>A r.(=) p.(=) g.16737946G>A Copied from the Exome Variant Server SYAP1_000003 61/10524 0/6705 61/3819
?/? c.121G>A r.(?) p.(Glu41Lys) g.16737968G>A Copied from the Exome Variant Server SYAP1_000004 5/10524 0/6700 5/3824
?/? c.175+31del r.(=) p.(=) g.16738053del Copied from the Exome Variant Server SYAP1_000006 127/9288 83/6003 44/3285
?/? c.175+31dup r.(=) p.(=) g.16738053dup Copied from the Exome Variant Server SYAP1_000005 284/9288 57/6003 227/3285
?/? c.175+32G>C r.(=) p.(=) g.16738054G>C Copied from the Exome Variant Server SYAP1_000007 21/10023 0/6434 21/3589
?/? c.176-31A>C r.(=) p.(=) g.16753319A>C Copied from the Exome Variant Server SYAP1_000008 1/10532 1/6714 0/3818
?/? c.258C>T r.(=) p.(=) g.16753432C>T Copied from the Exome Variant Server SYAP1_000009 5/10563 0/6728 5/3835
?/? c.294+8C>A r.(=) p.(=) g.16753476C>A Copied from the Exome Variant Server SYAP1_000010 2/10561 0/6726 2/3835
?/? c.294+14T>A r.(=) p.(=) g.16753482T>A Copied from the Exome Variant Server SYAP1_000012 1/10559 1/6724 0/3835
?/? c.294+25T>C r.(=) p.(=) g.16753493T>C Copied from the Exome Variant Server SYAP1_000011 9/10558 9/6723 0/3835
?/? c.294+50C>T r.(=) p.(=) g.16753518C>T Copied from the Exome Variant Server SYAP1_000013 94/10559 0/6724 94/3835
?/? c.295-34G>A r.(=) p.(=) g.16754255G>A Copied from the Exome Variant Server SYAP1_000014 1/10552 1/6723 0/3829
?/? c.301A>G r.(?) p.(Ile101Val) g.16754295A>G Copied from the Exome Variant Server SYAP1_000015 2/10560 0/6727 2/3833
?/? c.308A>C r.(?) p.(Asp103Ala) g.16754302A>C Copied from the Exome Variant Server SYAP1_000016 1/10560 0/6727 1/3833
?/? c.361+30del r.(=) p.(=) g.16754385del Copied from the Exome Variant Server SYAP1_000017 2/10205 0/6484 2/3721
?/? c.362-49C>G r.(=) p.(=) g.16759790C>G Copied from the Exome Variant Server SYAP1_000018 1/10563 1/6728 0/3835
?/? c.362-26C>T r.(=) p.(=) g.16759813C>T Copied from the Exome Variant Server SYAP1_000019 1/10563 1/6728 0/3835
?/? c.389C>T r.(?) p.(Thr130Ile) g.16759866C>T Copied from the Exome Variant Server SYAP1_000020 1/10563 1/6728 0/3835
?/? c.435+31A>G r.(=) p.(=) g.16759943A>G Copied from the Exome Variant Server SYAP1_000021 1/10563 1/6728 0/3835
?/? c.435+50T>C r.(=) p.(=) g.16759962T>C Copied from the Exome Variant Server SYAP1_000022 2/10563 0/6728 2/3835
?/? c.487G>A r.(?) p.(Asp163Asn) g.16761875G>A Copied from the Exome Variant Server SYAP1_000023 1/10563 0/6728 1/3835
?/? c.520A>G r.(?) p.(Met174Val) g.16761908A>G Copied from the Exome Variant Server SYAP1_000024 2/10563 2/6728 0/3835
?/? c.562C>G r.(?) p.(Leu188Val) g.16761950C>G Copied from the Exome Variant Server SYAP1_000025 4/10563 4/6728 0/3835
?/? c.575+39A>G r.(=) p.(=) g.16762002A>G Copied from the Exome Variant Server SYAP1_000026 9017/10563 5667/6728 3350/3835
?/? c.576-45C>T r.(=) p.(=) g.16773023C>T Copied from the Exome Variant Server SYAP1_000027 223/10563 2/6728 221/3835
?/? c.576-14C>A r.(=) p.(=) g.16773054C>A Copied from the Exome Variant Server SYAP1_000028 3/10563 2/6728 1/3835
?/? c.576-10T>C r.(=) p.(=) g.16773058T>C Copied from the Exome Variant Server SYAP1_000029 1/10563 1/6728 0/3835
?/? c.685G>A r.(?) p.(Glu229Lys) g.16773177G>A Copied from the Exome Variant Server SYAP1_000030 1/10563 0/6728 1/3835
?/? c.705G>A r.(=) p.(=) g.16773197G>A Copied from the Exome Variant Server SYAP1_000031 1/10563 1/6728 0/3835
?/? c.717G>A r.(=) p.(=) g.16773209G>A Copied from the Exome Variant Server SYAP1_000032 7/10563 6/6728 1/3835
?/? c.724+9T>G r.(=) p.(=) g.16773225T>G Copied from the Exome Variant Server SYAP1_000033 2/10562 2/6728 0/3834
?/? c.724+37A>G r.(=) p.(=) g.16773253A>G Copied from the Exome Variant Server SYAP1_000034 1/10560 1/6726 0/3834
?/? c.725-12C>G r.(=) p.(=) g.16774774C>G Copied from the Exome Variant Server SYAP1_000035 1/10563 0/6728 1/3835
?/? c.783+38T>A r.(=) p.(=) g.16774882T>A Copied from the Exome Variant Server SYAP1_000036 1/10561 1/6726 0/3835
?/? c.784-20G>A r.(=) p.(=) g.16775265G>A Copied from the Exome Variant Server SYAP1_000037 65/10563 0/6728 65/3835
?/? c.841G>A r.(?) p.(Asp281Asn) g.16775342G>A Copied from the Exome Variant Server SYAP1_000038 1/10563 1/6728 0/3835
?/? c.878A>C r.(?) p.(Glu293Ala) g.16775379A>C Copied from the Exome Variant Server SYAP1_000039 7/10563 0/6728 7/3835
?/? c.931+37C>T r.(=) p.(=) g.16775469C>T Copied from the Exome Variant Server SYAP1_000040 1/10563 0/6728 1/3835
?/? c.932-48C>T r.(=) p.(=) g.16778307C>T Copied from the Exome Variant Server SYAP1_000041 20/10563 20/6728 0/3835
?/? c.932-36A>G r.(=) p.(=) g.16778319A>G Copied from the Exome Variant Server SYAP1_000042 1/10563 1/6728 0/3835
?/? c.932-27C>T r.(=) p.(=) g.16778328C>T Copied from the Exome Variant Server SYAP1_000043 2/10563 0/6728 2/3835
?/? c.*16A>G r.(=) p.(=) g.16778498A>G Copied from the Exome Variant Server SYAP1_000044 2/10561 0/6726 2/3835
?/? c.*45A>C r.(=) p.(=) g.16778527A>C Copied from the Exome Variant Server SYAP1_000045 149/10550 73/6723 76/3827
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