Full data view for gene AMY2A

Information The variants shown are described using the NM_000699.2 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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.-24G>T r.(=) p.(=) g.104160039G>T Copied from the Exome Variant Server AMY2A_000011 1/12802 0/8454 1/4348 - - - - - - -
?/? c.7T>C r.(?) p.(Phe3Leu) g.104160069T>C Copied from the Exome Variant Server AMY2A_000001 3/12896 2/8500 1/4396 - - - - - - -
?/? c.9C>A r.(?) p.(Phe3Leu) g.104160071C>A Copied from the Exome Variant Server AMY2A_000002 1/12900 1/8504 0/4396 - - - - - - -
?/? c.38G>A r.(?) p.(Cys13Tyr) g.104160100G>A Copied from the Exome Variant Server AMY2A_000003 1/12916 0/8516 1/4400 - - - - - - -
?/? c.73C>T r.(?) p.(Arg25Trp) g.104160135C>T Copied from the Exome Variant Server AMY2A_000004 5/12950 5/8548 0/4402 - - - - - - -
?/? c.84T>C r.(=) p.(=) g.104160146T>C Copied from the Exome Variant Server AMY2A_000005 1/12956 0/8554 1/4402 - - - - - - -
?/? c.116T>C r.(?) p.(Ile39Thr) g.104160178T>C Copied from the Exome Variant Server AMY2A_000006 2/12962 0/8560 2/4402 - - - - - - -
?/? c.123T>C r.(=) p.(=) g.104160185T>C Copied from the Exome Variant Server AMY2A_000007 3/12960 3/8558 0/4402 - - - - - - -
?/? c.145C>G r.(?) p.(Pro49Ala) g.104160207C>G Copied from the Exome Variant Server AMY2A_000008 5/12960 5/8558 0/4402 - - - - - - -
?/? c.146C>T r.(?) p.(Pro49Leu) g.104160208C>T Copied from the Exome Variant Server AMY2A_000009 2/12960 2/8558 0/4402 - - - - - - -
?/? c.161G>A r.(?) p.(Gly54Glu) g.104160223G>A Copied from the Exome Variant Server AMY2A_000010 1/12958 1/8556 0/4402 - - - - - - -
?/? c.168+18T>C r.(=) p.(=) g.104160248T>C Copied from the Exome Variant Server AMY2A_000012 1/12960 1/8558 0/4402 - - - - - - -
?/? c.168+24T>C r.(=) p.(=) g.104160254T>C Copied from the Exome Variant Server AMY2A_000013 1/12960 0/8558 1/4402 - - - - - - -
?/? c.168+27C>T r.(=) p.(=) g.104160257C>T Copied from the Exome Variant Server AMY2A_000014 77/12960 4/8558 73/4402 - - - - - - -
?/? c.168+28G>A r.(=) p.(=) g.104160258G>A Copied from the Exome Variant Server AMY2A_000015 5/12960 2/8558 3/4402 - - - - - - -
?/? c.169-44A>G r.(=) p.(=) g.104160532A>G Copied from the Exome Variant Server AMY2A_000016 1/12958 1/8556 0/4402 - - - - - - -
?/? c.169-43G>A r.(=) p.(=) g.104160533G>A Copied from the Exome Variant Server AMY2A_000017 1/12958 1/8556 0/4402 - - - - - - -
?/? c.169-25C>G r.(=) p.(=) g.104160551C>G Copied from the Exome Variant Server AMY2A_000018 6/12952 4/8550 2/4402 - - - - - - -
?/? c.169-4G>T r.spl? p.? g.104160572G>T Copied from the Exome Variant Server AMY2A_000019 1/12958 0/8556 1/4402 - - - - - - -
?/? c.171C>G r.(=) p.(=) g.104160578C>G Copied from the Exome Variant Server AMY2A_000020 2/12958 2/8556 0/4402 - - - - - - -
?/? c.183T>C r.(=) p.(=) g.104160590T>C Copied from the Exome Variant Server AMY2A_000021 1/12958 0/8556 1/4402 - - - - - - -
?/? c.191T>C r.(?) p.(Val64Ala) g.104160598T>C Copied from the Exome Variant Server AMY2A_000022 2/12958 0/8556 2/4402 - - - - - - -
?/? c.202A>C r.(?) p.(Asn68His) g.104160609A>C Copied from the Exome Variant Server AMY2A_000023 1/12958 0/8556 1/4402 - - - - - - -
?/? c.227G>C r.(?) p.(Arg76Thr) g.104160634G>C Copied from the Exome Variant Server AMY2A_000024 1/12960 0/8558 1/4402 - - - - - - -
?/? c.277G>T r.(?) p.(Glu93*) g.104160684G>T Copied from the Exome Variant Server AMY2A_000025 1/12950 0/8548 1/4402 - - - - - - -
?/? c.296C>A r.(?) p.(Thr99Asn) g.104160703C>A Copied from the Exome Variant Server AMY2A_000026 150/12954 0/8552 150/4402 - - - - - - -
?/? c.313G>C r.(?) p.(Gly105Arg) g.104160720G>C Copied from the Exome Variant Server AMY2A_000027 1/12956 0/8554 1/4402 - - - - - - -
?/? c.315+13T>C r.(=) p.(=) g.104160735T>C Copied from the Exome Variant Server AMY2A_000028 1/12960 0/8558 1/4402 - - - - - - -
?/? c.315+30A>G r.(=) p.(=) g.104160752A>G Copied from the Exome Variant Server AMY2A_000029 1/12960 1/8558 0/4402 - - - - - - -
?/? c.514-16_514-15insT r.(=) p.(=) g.104162160_104162161insT Copied from the Exome Variant Server AMY2A_000030 14/6336 13/4040 1/2296 - - - - - - -
?/? c.532A>T r.(?) p.(Thr178Ser) g.104162194A>T Copied from the Exome Variant Server AMY2A_000031 338/9520 10/6322 328/3198 - - - - - - -
?/? c.538C>A r.(?) p.(Leu180Ile) g.104162200C>A Copied from the Exome Variant Server AMY2A_000032 1/9722 0/6432 1/3290 - - - - - - -
?/? c.610A>G r.(?) p.(Ile204Val) g.104162272A>G Copied from the Exome Variant Server AMY2A_000033 4/11640 0/7708 4/3932 - - - - - - -
?/? c.613G>A r.(?) p.(Gly205Ser) g.104162275G>A Copied from the Exome Variant Server AMY2A_000034 106/11630 2/7690 104/3940 - - - - - - -
?/? c.689A>G r.(?) p.(His230Arg) g.104162351A>G Copied from the Exome Variant Server AMY2A_000035 21/12120 17/8016 4/4104 - - - - - - -
?/? c.745-35A>C r.(=) p.(=) g.104163138A>C Copied from the Exome Variant Server AMY2A_000036 1/12956 0/8552 1/4404 - - - - - - -
?/? c.745-20del r.(=) p.(=) g.104163153del Copied from the Exome Variant Server AMY2A_000037 1/9862 1/6540 0/3322 - - - - - - -
?/? c.745-4C>T r.spl? p.? g.104163169C>T Copied from the Exome Variant Server AMY2A_000038 16/12948 10/8544 6/4404 - - - - - - -
?/? c.757G>A r.(?) p.(Gly253Ser) g.104163185G>A Copied from the Exome Variant Server AMY2A_000039 3/12880 3/8496 0/4384 - - - - - - -
?/? c.786C>T r.(=) p.(=) g.104163214C>T Copied from the Exome Variant Server AMY2A_000040 2/12852 1/8480 1/4372 - - - - - - -
?/? c.834C>G r.(=) p.(=) g.104163262C>G Copied from the Exome Variant Server AMY2A_000041 211/12638 189/8386 22/4252 - - - - - - -
?/? c.837A>G r.(=) p.(=) g.104163265A>G Copied from the Exome Variant Server AMY2A_000042 4/12610 0/8370 4/4240 - - - - - - -
?/? c.860A>C r.(?) p.(Glu287Ala) g.104163288A>C Copied from the Exome Variant Server AMY2A_000043 62/12330 0/8262 62/4068 - - - - - - -
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