Unique variants in gene MAGED1

Information The variants shown are described using the NM_001005332.1 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-36-11C>T r.(=) p.(=) g.51637354C>T Copied from the Exome Variant Server MAGED1_000001 1/10503 1/6685 0/3818
1 c.45+23C>T r.(=) p.(=) g.51637468C>T Copied from the Exome Variant Server MAGED1_000002 1/10542 1/6714 0/3828
1 c.45+26C>T r.(=) p.(=) g.51637471C>T Copied from the Exome Variant Server MAGED1_000003 1382/10543 876/6714 506/3829
1 c.45+321C>T r.(=) p.(=) g.51637766C>T Copied from the Exome Variant Server MAGED1_000004 1/10563 1/6728 0/3835
1 c.46-347C>T r.(=) p.(=) g.51637802C>T Copied from the Exome Variant Server MAGED1_000005 1/10563 0/6728 1/3835
1 c.46-338_46-337insC r.(=) p.(=) g.51637811_51637812insC Copied from the Exome Variant Server MAGED1_000006 1/10205 0/6484 1/3721
1 c.46-308C>T r.(=) p.(=) g.51637841C>T Copied from the Exome Variant Server MAGED1_000007 1/10563 0/6728 1/3835
1 c.46-303G>A r.(=) p.(=) g.51637846G>A Copied from the Exome Variant Server MAGED1_000008 67/10563 2/6728 65/3835
1 c.46-266C>T r.(=) p.(=) g.51637883C>T Copied from the Exome Variant Server MAGED1_000009 1/10563 1/6728 0/3835
1 c.46-44C>G r.(=) p.(=) g.51638105C>G Copied from the Exome Variant Server MAGED1_000010 3/10439 0/6658 3/3781
1 c.46-23del r.(=) p.(=) g.51638126del Copied from the Exome Variant Server MAGED1_000011 8/10181 5/6468 3/3713
1 c.46-17del r.(=) p.(=) g.51638132del Copied from the Exome Variant Server MAGED1_000012 15/10182 11/6468 4/3714
1 c.172A>G r.(?) p.(Thr58Ala) g.51638275A>G Copied from the Exome Variant Server MAGED1_000013 1/10563 0/6728 1/3835
1 c.175G>A r.(?) p.(Ala59Thr) g.51638278G>A Copied from the Exome Variant Server MAGED1_000014 1/10563 1/6728 0/3835
1 c.214G>A r.(?) p.(Ala72Thr) g.51638317G>A Copied from the Exome Variant Server MAGED1_000015 2/10563 2/6728 0/3835
1 c.275A>G r.(?) p.(Tyr92Cys) g.51638378A>G Copied from the Exome Variant Server MAGED1_000016 1/10563 1/6728 0/3835
1 c.307G>A r.(?) p.(Val103Met) g.51638410G>A Copied from the Exome Variant Server MAGED1_000017 3/10563 2/6728 1/3835
1 c.346A>C r.(?) p.(Asn116His) g.51638449A>C Copied from the Exome Variant Server MAGED1_000018 4/10563 0/6728 4/3835
1 c.444C>T r.(=) p.(=) g.51638547C>T Copied from the Exome Variant Server MAGED1_000019 1/10563 1/6728 0/3835
1 c.475G>A r.(?) p.(Ala159Thr) g.51638578G>A Copied from the Exome Variant Server MAGED1_000020 1/10563 1/6728 0/3835
1 c.662C>G r.(?) p.(Pro221Arg) g.51638765C>G Copied from the Exome Variant Server MAGED1_000021 1/10559 0/6726 1/3833
1 c.686C>T r.(?) p.(Ser229Leu) g.51638789C>T Copied from the Exome Variant Server MAGED1_000022 1/10551 0/6722 1/3829
1 c.753+11T>C r.(=) p.(=) g.51638867T>C Copied from the Exome Variant Server MAGED1_000023 2/10029 0/6356 2/3673
1 c.753+44T>G r.(=) p.(=) g.51638900T>G Copied from the Exome Variant Server MAGED1_000024 307/9110 281/5724 26/3386
1 c.814G>A r.(?) p.(Ala272Thr) g.51639565G>A Copied from the Exome Variant Server MAGED1_000025 1/10563 1/6728 0/3835
1 c.867C>T r.(=) p.(=) g.51639618C>T Copied from the Exome Variant Server MAGED1_000026 2/10563 1/6728 1/3835
1 c.893C>T r.(?) p.(Thr298Met) g.51639644C>T Copied from the Exome Variant Server MAGED1_000027 1/10563 0/6728 1/3835
1 c.913C>T r.(?) p.(Pro305Ser) g.51639664C>T Copied from the Exome Variant Server MAGED1_000028 3/10563 2/6728 1/3835
1 c.949C>G r.(?) p.(Pro317Ala) g.51639700C>G Copied from the Exome Variant Server MAGED1_000029 1/10563 1/6728 0/3835
1 c.959G>A r.(?) p.(Arg320His) g.51639710G>A Copied from the Exome Variant Server MAGED1_000030 1/10563 0/6728 1/3835
1 c.1062G>A r.(=) p.(=) g.51639813G>A Copied from the Exome Variant Server MAGED1_000031 5/10563 4/6728 1/3835
1 c.1170G>A r.(=) p.(=) g.51639921G>A Copied from the Exome Variant Server MAGED1_000032 5/10550 0/6722 5/3828
1 c.1245T>C r.(=) p.(=) g.51639996T>C Copied from the Exome Variant Server MAGED1_000033 1/10555 0/6725 1/3830
1 c.1251A>C r.(=) p.(=) g.51640002A>C Copied from the Exome Variant Server MAGED1_000034 1/10559 0/6724 1/3835
1 c.1290C>T r.(=) p.(=) g.51640041C>T Copied from the Exome Variant Server MAGED1_000035 1/10562 0/6727 1/3835
1 c.1327C>T r.(?) p.(Arg443Cys) g.51640078C>T Copied from the Exome Variant Server MAGED1_000036 1/10563 0/6728 1/3835
1 c.1382G>A r.(?) p.(Gly461Asp) g.51640133G>A Copied from the Exome Variant Server MAGED1_000037 2/10563 2/6728 0/3835
1 c.1393C>T r.(?) p.(Pro465Ser) g.51640144C>T Copied from the Exome Variant Server MAGED1_000038 5/10563 0/6728 5/3835
1 c.1422+43C>G r.(=) p.(=) g.51640216C>G Copied from the Exome Variant Server MAGED1_000039 46/10562 0/6727 46/3835
1 c.1423-15C>T r.(=) p.(=) g.51640289C>T Copied from the Exome Variant Server MAGED1_000040 1/10563 1/6728 0/3835
1 c.1486+51G>A r.(=) p.(=) g.51640418G>A Copied from the Exome Variant Server MAGED1_000041 6/10563 5/6728 1/3835
1 c.1487-41G>A r.(=) p.(=) g.51640602G>A Copied from the Exome Variant Server MAGED1_000042 1/10563 0/6728 1/3835
1 c.1487-7C>T r.(=) p.(=) g.51640636C>T Copied from the Exome Variant Server MAGED1_000043 1/10563 1/6728 0/3835
1 c.1542A>G r.(=) p.(=) g.51640698A>G Copied from the Exome Variant Server MAGED1_000044 1/10563 0/6728 1/3835
1 c.1567-10G>T r.(=) p.(=) g.51640881G>T Copied from the Exome Variant Server MAGED1_000045 1/10563 1/6728 0/3835
1 c.1567-4G>T r.spl? p.? g.51640887G>T Copied from the Exome Variant Server MAGED1_000046 2/10560 0/6727 2/3833
1 c.1605A>G r.(=) p.(=) g.51640929A>G Copied from the Exome Variant Server MAGED1_000047 1/10563 0/6728 1/3835
1 c.1632C>T r.(=) p.(=) g.51640956C>T Copied from the Exome Variant Server MAGED1_000048 8/10563 0/6728 8/3835
1 c.1658+24C>T r.(=) p.(=) g.51641006C>T Copied from the Exome Variant Server MAGED1_000049 1/10557 1/6726 0/3831
1 c.1658+33T>C r.(=) p.(=) g.51641015T>C Copied from the Exome Variant Server MAGED1_000050 1/10550 1/6721 0/3829
1 c.1658+55del r.(=) p.(=) g.51641037del Copied from the Exome Variant Server MAGED1_000051 3/10137 2/6453 1/3684
1 c.1659-35G>A r.(=) p.(=) g.51641175G>A Copied from the Exome Variant Server MAGED1_000052 3/10563 0/6728 3/3835
1 c.1659-13T>G r.(=) p.(=) g.51641197T>G Copied from the Exome Variant Server MAGED1_000053 1/10563 0/6728 1/3835
1 c.1659-7del r.(=) p.(=) g.51641203del Copied from the Exome Variant Server MAGED1_000054 2/10205 2/6484 0/3721
1 c.1689C>T r.(=) p.(=) g.51641240C>T Copied from the Exome Variant Server MAGED1_000055 3/10563 2/6728 1/3835
1 c.1726C>T r.(?) p.(Arg576Cys) g.51641277C>T Copied from the Exome Variant Server MAGED1_000056 1/10563 0/6728 1/3835
1 c.1738+9C>A r.(=) p.(=) g.51641298C>A Copied from the Exome Variant Server MAGED1_000057 8/10563 0/6728 8/3835
1 c.1738+21C>T r.(=) p.(=) g.51641310C>T Copied from the Exome Variant Server MAGED1_000058 6/10563 0/6728 6/3835
1 c.1739-31G>A r.(=) p.(=) g.51641350G>A Copied from the Exome Variant Server MAGED1_000059 11/10563 0/6728 11/3835
1 c.1781+7T>G r.(=) p.(=) g.51641430T>G Copied from the Exome Variant Server MAGED1_000060 1/10563 1/6728 0/3835
1 c.1781+28C>G r.(=) p.(=) g.51641451C>G Copied from the Exome Variant Server MAGED1_000061 2/10563 2/6728 0/3835
1 c.1781+30G>A r.(=) p.(=) g.51641453G>A Copied from the Exome Variant Server MAGED1_000062 1/10563 1/6728 0/3835
1 c.1782-15T>G r.(=) p.(=) g.51641662T>G Copied from the Exome Variant Server MAGED1_000063 1/10563 1/6728 0/3835
1 c.1795C>G r.(?) p.(Leu599Val) g.51641690C>G Copied from the Exome Variant Server MAGED1_000064 1/10563 1/6728 0/3835
1 c.1844+29_1844+31del r.(=) p.(=) g.51641768_51641770del Copied from the Exome Variant Server MAGED1_000065 1/10198 1/6480 0/3718
1 c.1844+43G>T r.(=) p.(=) g.51641782G>T Copied from the Exome Variant Server MAGED1_000066 3/10562 0/6727 3/3835
1 c.1959+51T>C r.(=) p.(=) g.51643443T>C Copied from the Exome Variant Server MAGED1_000067 8/10563 0/6728 8/3835
1 c.1960-33G>A r.(=) p.(=) g.51644616G>A Copied from the Exome Variant Server MAGED1_000068 5/10465 0/6672 5/3793
1 c.1998C>T r.(=) p.(=) g.51644687C>T Copied from the Exome Variant Server MAGED1_000070 1/10563 1/6728 0/3835
1 c.2025T>C r.(=) p.(=) g.51644714T>C Copied from the Exome Variant Server MAGED1_000072 108/10563 2/6728 106/3835
1 c.2052C>T r.(=) p.(=) g.51644741C>T Copied from the Exome Variant Server MAGED1_000074 4/10563 4/6728 0/3835
1 c.2059C>A r.(=) p.(=) g.51644748C>A Copied from the Exome Variant Server MAGED1_000075 1532/10563 1305/6728 227/3835
1 c.2226C>T r.(=) p.(=) g.51644915C>T Copied from the Exome Variant Server MAGED1_000076 1/10563 0/6728 1/3835
1 c.2243A>C r.(?) p.(Gln748Pro) g.51644932A>C Copied from the Exome Variant Server MAGED1_000077 1/10563 0/6728 1/3835
1 c.2263A>G r.(?) p.(Ile755Val) g.51644952A>G Copied from the Exome Variant Server MAGED1_000078 1/10563 1/6728 0/3835
1 c.2295C>T r.(=) p.(=) g.51644984C>T Copied from the Exome Variant Server MAGED1_000069 1/10563 0/6728 1/3835
1 c.2307T>C r.(=) p.(=) g.51644996T>C Copied from the Exome Variant Server MAGED1_000071 38/10562 0/6727 38/3835
1 c.*8+31G>C r.(=) p.(=) g.51645065G>C Copied from the Exome Variant Server MAGED1_000073 1408/10562 898/6727 510/3835
Legend