Full data view for gene MAGED2

Information The variants shown are described using the NM_014599.4 transcript reference sequence.

85 entries on 1 page. Showing entries 1 - 85.
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.-30+225del r.(=) p.(=) g.54835091del Copied from the Exome Variant Server MAGED2_000001 19/5817 14/3713 5/2104 - - - - - - -
?/? c.-29-3C>A r.(=) p.(=) g.54835733C>A Copied from the Exome Variant Server MAGED2_000002 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-10A>T r.(=) p.(=) g.54835755A>T Copied from the Exome Variant Server MAGED2_000003 1/10563 0/6728 1/3835 - - - - - - -
?/? c.45+60C>T r.(=) p.(=) g.54835869C>T Copied from the Exome Variant Server MAGED2_000004 17/3600 16/2391 1/1209 - - - - - - -
?/? c.46-124G>A r.(=) p.(=) g.54836031G>A Copied from the Exome Variant Server MAGED2_000005 1/3600 1/2391 0/1209 - - - - - - -
?/? c.46-32A>G r.(=) p.(=) g.54836123A>G Copied from the Exome Variant Server MAGED2_000006 1/10563 0/6728 1/3835 - - - - - - -
?/? c.92T>G r.(?) p.(Leu31Trp) g.54836201T>G Copied from the Exome Variant Server MAGED2_000007 1/10563 0/6728 1/3835 - - - - - - -
?/? c.128C>T r.(?) p.(Pro43Leu) g.54836237C>T Copied from the Exome Variant Server MAGED2_000008 3/10562 0/6727 3/3835 - - - - - - -
?/? c.129G>A r.(=) p.(=) g.54836238G>A Copied from the Exome Variant Server MAGED2_000009 1/10562 1/6727 0/3835 - - - - - - -
?/? c.130A>G r.(?) p.(Lys44Glu) g.54836239A>G Copied from the Exome Variant Server MAGED2_000010 40/10562 34/6727 6/3835 - - - - - - -
?/? c.225T>C r.(=) p.(=) g.54836334T>C Copied from the Exome Variant Server MAGED2_000011 36/10552 1/6720 35/3832 - - - - - - -
?/? c.227G>A r.(?) p.(Arg76Gln) g.54836336G>A Copied from the Exome Variant Server MAGED2_000012 1/10555 1/6721 0/3834 - - - - - - -
?/? c.252A>G r.(=) p.(=) g.54836361A>G Copied from the Exome Variant Server MAGED2_000013 3357/10559 2267/6724 1090/3835 - - - - - - -
?/? c.306A>G r.(=) p.(=) g.54836415A>G Copied from the Exome Variant Server MAGED2_000014 1/10562 0/6727 1/3835 - - - - - - -
?/? c.344C>A r.(?) p.(Ala115Asp) g.54836453C>A Copied from the Exome Variant Server MAGED2_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.396A>G r.(=) p.(=) g.54836505A>G Copied from the Exome Variant Server MAGED2_000016 4785/10563 2284/6728 2501/3835 - - - - - - -
?/? c.480C>T r.(=) p.(=) g.54836589C>T Copied from the Exome Variant Server MAGED2_000017 12/10536 0/6712 12/3824 - - - - - - -
?/? c.484T>G r.(?) p.(Ser162Ala) g.54836593T>G Copied from the Exome Variant Server MAGED2_000018 1/10535 1/6713 0/3822 - - - - - - -
?/? c.498G>C r.(?) p.(Gln166His) g.54836607G>C Copied from the Exome Variant Server MAGED2_000019 1/10519 1/6698 0/3821 - - - - - - -
?/? c.561G>C r.(?) p.(Glu187Asp) g.54837277G>C Copied from the Exome Variant Server MAGED2_000020 279/10563 4/6728 275/3835 - - - - - - -
?/? c.615C>T r.(=) p.(=) g.54837331C>T Copied from the Exome Variant Server MAGED2_000021 1/10563 1/6728 0/3835 - - - - - - -
?/? c.624C>T r.(=) p.(=) g.54837340C>T Copied from the Exome Variant Server MAGED2_000022 4034/10563 2277/6728 1757/3835 - - - - - - -
?/? c.680G>A r.(?) p.(Arg227His) g.54837396G>A Copied from the Exome Variant Server MAGED2_000023 2/10556 1/6723 1/3833 - - - - - - -
?/? c.770G>A r.(?) p.(Arg257His) g.54837486G>A Copied from the Exome Variant Server MAGED2_000024 1/10563 0/6728 1/3835 - - - - - - -
?/? c.816A>G r.(=) p.(=) g.54837532A>G Copied from the Exome Variant Server MAGED2_000025 39/10563 0/6728 39/3835 - - - - - - -
?/? c.846+26G>C r.(=) p.(=) g.54837588G>C Copied from the Exome Variant Server MAGED2_000026 2/10563 2/6728 0/3835 - - - - - - -
?/? c.846+45C>T r.(=) p.(=) g.54837607C>T Copied from the Exome Variant Server MAGED2_000027 8/10563 7/6728 1/3835 - - - - - - -
?/? c.847-56G>A r.(=) p.(=) g.54837627G>A Copied from the Exome Variant Server MAGED2_000028 176/3600 2/2391 174/1209 - - - - - - -
?/? c.884A>G r.(?) p.(Gln295Arg) g.54837720A>G Copied from the Exome Variant Server MAGED2_000029 1/10563 1/6728 0/3835 - - - - - - -
?/? c.887C>T r.(?) p.(Thr296Met) g.54837723C>T Copied from the Exome Variant Server MAGED2_000030 4/10563 3/6728 1/3835 - - - - - - -
?/? c.910+15A>G r.(=) p.(=) g.54837761A>G Copied from the Exome Variant Server MAGED2_000031 2/10563 0/6728 2/3835 - - - - - - -
?/? c.910+18C>G r.(=) p.(=) g.54837764C>G Copied from the Exome Variant Server MAGED2_000032 88/10563 0/6728 88/3835 - - - - - - -
?/? c.911-45C>G r.(=) p.(=) g.54837962C>G Copied from the Exome Variant Server MAGED2_000033 16/10563 15/6728 1/3835 - - - - - - -
?/? c.911-21C>T r.(=) p.(=) g.54837986C>T Copied from the Exome Variant Server MAGED2_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.911-9C>A r.(=) p.(=) g.54837998C>A Copied from the Exome Variant Server MAGED2_000035 89/10563 0/6728 89/3835 - - - - - - -
?/? c.954C>T r.(=) p.(=) g.54838050C>T Copied from the Exome Variant Server MAGED2_000036 3/10563 1/6728 2/3835 - - - - - - -
?/? c.981C>T r.(=) p.(=) g.54838077C>T Copied from the Exome Variant Server MAGED2_000037 3654/10563 2273/6728 1381/3835 - - - - - - -
?/? c.990+72del r.(=) p.(=) g.54838158del Copied from the Exome Variant Server MAGED2_000038 2/10191 2/6476 0/3715 - - - - - - -
?/? c.990+75del r.(=) p.(=) g.54838161del Copied from the Exome Variant Server MAGED2_000039 2/10169 1/6464 1/3705 - - - - - - -
?/? c.1063A>G r.(?) p.(Thr355Ala) g.54838662A>G Copied from the Exome Variant Server MAGED2_000040 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1078C>T r.(=) p.(=) g.54838677C>T Copied from the Exome Variant Server MAGED2_000041 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1085+46A>G r.(=) p.(=) g.54838730A>G Copied from the Exome Variant Server MAGED2_000042 2/10562 0/6727 2/3835 - - - - - - -
?/? c.1086-20C>T r.(=) p.(=) g.54839358C>T Copied from the Exome Variant Server MAGED2_000043 1/10559 0/6725 1/3834 - - - - - - -
?/? c.1137C>T r.(=) p.(=) g.54839429C>T Copied from the Exome Variant Server MAGED2_000044 14/10563 0/6728 14/3835 - - - - - - -
?/? c.1153C>A r.(=) p.(=) g.54839445C>A Copied from the Exome Variant Server MAGED2_000045 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1165+29G>A r.(=) p.(=) g.54839486G>A Copied from the Exome Variant Server MAGED2_000046 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1166-46C>A r.(=) p.(=) g.54839505C>A Copied from the Exome Variant Server MAGED2_000047 189/10563 0/6728 189/3835 - - - - - - -
?/? c.1166-34T>A r.(=) p.(=) g.54839517T>A Copied from the Exome Variant Server MAGED2_000048 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1166-5C>T r.spl? p.? g.54839546C>T Copied from the Exome Variant Server MAGED2_000049 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1166-4G>A r.spl? p.? g.54839547G>A Copied from the Exome Variant Server MAGED2_000050 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1191G>A r.(=) p.(=) g.54839576G>A Copied from the Exome Variant Server MAGED2_000051 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1208+21C>T r.(=) p.(=) g.54839614C>T Copied from the Exome Variant Server MAGED2_000052 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1208+22G>A r.(=) p.(=) g.54839615G>A Copied from the Exome Variant Server MAGED2_000053 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1208+33G>A r.(=) p.(=) g.54839626G>A Copied from the Exome Variant Server MAGED2_000054 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1212A>G r.(?) p.(Ile404Met) g.54839924A>G Copied from the Exome Variant Server MAGED2_000055 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1233C>T r.(=) p.(=) g.54839945C>T Copied from the Exome Variant Server MAGED2_000056 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1271+30C>T r.(=) p.(=) g.54840013C>T Copied from the Exome Variant Server MAGED2_000057 4101/10563 2275/6728 1826/3835 - - - - - - -
?/? c.1271+181G>C r.(=) p.(=) g.54840164G>C Copied from the Exome Variant Server MAGED2_000058 60/3600 0/2391 60/1209 - - - - - - -
?/? c.1271+256C>T r.(=) p.(=) g.54840239C>T Copied from the Exome Variant Server MAGED2_000059 1/3600 1/2391 0/1209 - - - - - - -
?/? c.1271+261G>T r.(=) p.(=) g.54840244G>T Copied from the Exome Variant Server MAGED2_000060 2/3600 0/2391 2/1209 - - - - - - -
?/? c.1272-238C>T N/A N/A g.54840856C>T Copied from the Exome Variant Server MAGED2_000061 1/4525 1/3107 0/1418 - - - - - - -
?/? c.1272-234A>G N/A N/A g.54840860A>G Copied from the Exome Variant Server MAGED2_000062 5/4525 5/3107 0/1418 - - - - - - -
?/? c.1272-204G>A N/A N/A g.54840890G>A Copied from the Exome Variant Server MAGED2_000063 1/4525 0/3107 1/1418 - - - - - - -
?/? c.1272-195G>T N/A N/A g.54840899G>T Copied from the Exome Variant Server MAGED2_000064 1/4525 0/3107 1/1418 - - - - - - -
?/? c.1272-175C>T N/A N/A g.54840919C>T Copied from the Exome Variant Server MAGED2_000065 63/4525 1/3107 62/1418 - - - - - - -
?/? c.1272-158A>G r.(=) p.(=) g.54840936A>G Copied from the Exome Variant Server MAGED2_000066 1/4525 0/3107 1/1418 - - - - - - -
?/? c.1272-131A>G r.(=) p.(=) g.54840963A>G Copied from the Exome Variant Server MAGED2_000067 1/4525 1/3107 0/1418 - - - - - - -
?/? c.1272-45C>T r.(=) p.(=) g.54841049C>T Copied from the Exome Variant Server MAGED2_000068 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1298A>G r.(?) p.(Asn433Ser) g.54841120A>G Copied from the Exome Variant Server MAGED2_000069 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1306C>T r.(?) p.(Pro436Ser) g.54841128C>T Copied from the Exome Variant Server MAGED2_000070 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1368C>T r.(=) p.(=) g.54841190C>T Copied from the Exome Variant Server MAGED2_000071 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1386+44G>T r.(=) p.(=) g.54841252G>T Copied from the Exome Variant Server MAGED2_000072 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1387-50A>G r.(=) p.(=) g.54841631A>G Copied from the Exome Variant Server MAGED2_000073 1/10185 1/6460 0/3725 - - - - - - -
?/? c.1387-36_1387-35insT r.(=) p.(=) g.54841645_54841646insT Copied from the Exome Variant Server MAGED2_000074 2/10054 1/6371 1/3683 - - - - - - -
?/? c.1387-33del r.(=) p.(=) g.54841648del Copied from the Exome Variant Server MAGED2_000075 1/10057 0/6377 1/3680 - - - - - - -
?/? c.1443G>A r.(=) p.(=) g.54841737G>A Copied from the Exome Variant Server MAGED2_000076 1053/10559 970/6724 83/3835 - - - - - - -
?/? c.1521C>T r.(=) p.(=) g.54841815C>T Copied from the Exome Variant Server MAGED2_000077 1/10561 1/6726 0/3835 - - - - - - -
?/? c.1545C>T r.(=) p.(=) g.54841839C>T Copied from the Exome Variant Server MAGED2_000078 1/10561 0/6726 1/3835 - - - - - - -
?/? c.1581C>T r.(=) p.(=) g.54841875C>T Copied from the Exome Variant Server MAGED2_000079 1/10560 1/6728 0/3832 - - - - - - -
?/? c.1599G>A r.(=) p.(=) g.54841893G>A Copied from the Exome Variant Server MAGED2_000080 2/10560 0/6728 2/3832 - - - - - - -
?/? c.1649_1654del r.(?) p.(Ala551_Ser552del) g.54841943_54841948del Copied from the Exome Variant Server MAGED2_000081 38/10179 21/6466 17/3713 - - - - - - -
?/? c.1658C>G r.(?) p.(Thr553Ser) g.54841952C>G Copied from the Exome Variant Server MAGED2_000082 2/10537 0/6717 2/3820 - - - - - - -
?/? c.1671_1676del r.(?) p.(Ala563_Ser564del) g.54841965_54841970del Copied from the Exome Variant Server MAGED2_000083 71/10129 30/6440 41/3689 - - - - - - -
?/? c.1728C>T r.(=) p.(=) g.54842022C>T Copied from the Exome Variant Server MAGED2_000084 1/10303 1/6540 0/3763 - - - - - - -
?/? c.1729G>A r.(?) p.(Ala577Thr) g.54842023G>A Copied from the Exome Variant Server MAGED2_000085 3/10261 2/6509 1/3752 - - - - - - -
Legend