All transcript variants in gene MAN2A2

Information The variants shown are described using the NM_006122.2 transcript reference sequence.

269 entries on 3 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-18_-17del r.(=) p.(=) g.91447420_91447421del Copied from the Exome Variant Server MAN2A2_000001 89/12518 71/8254 18/4264
?/? c.31G>A r.(?) p.(Gly11Arg) g.91447468G>A Copied from the Exome Variant Server MAN2A2_000002 1/12992 0/8596 1/4396
?/? c.72C>T r.(=) p.(=) g.91447509C>T Copied from the Exome Variant Server MAN2A2_000003 549/12992 3/8596 546/4396
?/? c.104G>A r.(?) p.(Arg35Gln) g.91447541G>A Copied from the Exome Variant Server MAN2A2_000004 1/12992 1/8596 0/4396
?/? c.132+7C>A r.(=) p.(=) g.91447576C>A Copied from the Exome Variant Server MAN2A2_000005 2/12992 0/8596 2/4396
?/? c.133-27T>C r.(=) p.(=) g.91448454T>C Copied from the Exome Variant Server MAN2A2_000006 5/12992 4/8596 1/4396
?/? c.147G>C r.(=) p.(=) g.91448495G>C Copied from the Exome Variant Server MAN2A2_000007 1/12992 1/8596 0/4396
?/? c.165G>A r.(=) p.(=) g.91448513G>A Copied from the Exome Variant Server MAN2A2_000008 1/12992 1/8596 0/4396
?/? c.169C>G r.(?) p.(Leu57Val) g.91448517C>G Copied from the Exome Variant Server MAN2A2_000009 2/12992 0/8596 2/4396
?/? c.242A>G r.(?) p.(Asn81Ser) g.91448590A>G Copied from the Exome Variant Server MAN2A2_000010 1/12992 1/8596 0/4396
?/? c.243C>A r.(?) p.(Asn81Lys) g.91448591C>A Copied from the Exome Variant Server MAN2A2_000011 12/12992 11/8596 1/4396
?/? c.259G>A r.(?) p.(Ala87Thr) g.91448607G>A Copied from the Exome Variant Server MAN2A2_000013 1/12992 1/8596 0/4396
?/? c.270C>G r.(=) p.(=) g.91448618C>G Copied from the Exome Variant Server MAN2A2_000015 11/12992 0/8596 11/4396
?/? c.278C>T r.(?) p.(Thr93Met) g.91448626C>T Copied from the Exome Variant Server MAN2A2_000017 874/12992 41/8596 833/4396
?/? c.305C>T r.(?) p.(Pro102Leu) g.91448653C>T Copied from the Exome Variant Server MAN2A2_000020 1/12992 1/8596 0/4396
?/? c.332T>C r.(?) p.(Ile111Thr) g.91448680T>C Copied from the Exome Variant Server MAN2A2_000022 1/12992 1/8596 0/4396
?/? c.360del r.(?) p.(Gly122Alafs*130) g.91448708del Copied from the Exome Variant Server MAN2A2_000012 13/12502 11/8244 2/4258
?/? c.367C>T r.(?) p.(Arg123Trp) g.91448715C>T Copied from the Exome Variant Server MAN2A2_000014 2/12990 2/8594 0/4396
?/? c.390+24C>T r.(=) p.(=) g.91448762C>T Copied from the Exome Variant Server MAN2A2_000016 1/12992 1/8596 0/4396
?/? c.390+30G>C r.(=) p.(=) g.91448768G>C Copied from the Exome Variant Server MAN2A2_000018 21/12992 20/8596 1/4396
?/? c.391-34C>T r.(=) p.(=) g.91448775C>T Copied from the Exome Variant Server MAN2A2_000019 1/12992 0/8596 1/4396
?/? c.395T>C r.(?) p.(Leu132Pro) g.91448813T>C Copied from the Exome Variant Server MAN2A2_000021 1/12992 0/8596 1/4396
?/? c.404C>T r.(?) p.(Ser135Leu) g.91448822C>T Copied from the Exome Variant Server MAN2A2_000023 1/12992 0/8596 1/4396
?/? c.426C>T r.(=) p.(=) g.91448844C>T Copied from the Exome Variant Server MAN2A2_000024 5/12992 5/8596 0/4396
?/? c.462_464del r.(?) p.(Ser155del) g.91448880_91448882del Copied from the Exome Variant Server MAN2A2_000025 5/12518 3/8254 2/4264
?/? c.465C>T r.(=) p.(=) g.91448883C>T Copied from the Exome Variant Server MAN2A2_000026 7/12992 7/8596 0/4396
?/? c.478G>A r.(?) p.(Asp160Asn) g.91448896G>A Copied from the Exome Variant Server MAN2A2_000027 1/12992 1/8596 0/4396
?/? c.498G>C r.(=) p.(=) g.91448916G>C Copied from the Exome Variant Server MAN2A2_000028 1/12992 1/8596 0/4396
?/? c.535+39G>A r.(=) p.(=) g.91448992G>A Copied from the Exome Variant Server MAN2A2_000029 2/12990 0/8596 2/4394
?/? c.536-46G>A r.(=) p.(=) g.91449029G>A Copied from the Exome Variant Server MAN2A2_000030 15/12980 0/8592 15/4388
?/? c.566C>T r.(?) p.(Thr189Ile) g.91449105C>T Copied from the Exome Variant Server MAN2A2_000031 1/12898 1/8542 0/4356
?/? c.589A>G r.(?) p.(Asn197Asp) g.91449128A>G Copied from the Exome Variant Server MAN2A2_000032 1/12948 0/8570 1/4378
?/? c.623G>A r.(?) p.(Arg208Gln) g.91449162G>A Copied from the Exome Variant Server MAN2A2_000033 1/12990 1/8596 0/4394
?/? c.629G>A r.(?) p.(Arg210His) g.91449168G>A Copied from the Exome Variant Server MAN2A2_000034 3/12992 3/8596 0/4396
?/? c.651C>T r.(=) p.(=) g.91449190C>T Copied from the Exome Variant Server MAN2A2_000035 1/12992 1/8596 0/4396
?/? c.695C>G r.(?) p.(Ala232Gly) g.91449234C>G Copied from the Exome Variant Server MAN2A2_000036 2/12992 2/8596 0/4396
?/? c.696G>A r.(=) p.(=) g.91449235G>A Copied from the Exome Variant Server MAN2A2_000037 1/12992 1/8596 0/4396
?/? c.698C>T r.(?) p.(Ala233Val) g.91449237C>T Copied from the Exome Variant Server MAN2A2_000038 12/12992 0/8596 12/4396
?/? c.703C>T r.(?) p.(Arg235*) g.91449242C>T Copied from the Exome Variant Server MAN2A2_000039 1/12992 1/8596 0/4396
?/? c.707+21C>T r.(=) p.(=) g.91449267C>T Copied from the Exome Variant Server MAN2A2_000040 1/12992 1/8596 0/4396
?/? c.707+22A>C r.(=) p.(=) g.91449268A>C Copied from the Exome Variant Server MAN2A2_000041 2/12992 2/8596 0/4396
?/? c.707+44C>T r.(=) p.(=) g.91449290C>T Copied from the Exome Variant Server MAN2A2_000042 1/12990 1/8596 0/4394
?/? c.708-41G>A r.(=) p.(=) g.91449559G>A Copied from the Exome Variant Server MAN2A2_000043 1/12992 1/8596 0/4396
?/? c.708-35C>T r.(=) p.(=) g.91449565C>T Copied from the Exome Variant Server MAN2A2_000044 1/12992 0/8596 1/4396
?/? c.708-28C>T r.(=) p.(=) g.91449572C>T Copied from the Exome Variant Server MAN2A2_000045 25/12992 0/8596 25/4396
?/? c.708-3T>C r.spl? p.? g.91449597T>C Copied from the Exome Variant Server MAN2A2_000046 1/12992 1/8596 0/4396
?/? c.720C>G r.(?) p.(Asn240Lys) g.91449612C>G Copied from the Exome Variant Server MAN2A2_000047 2/12992 2/8596 0/4396
?/? c.721G>T r.(?) p.(Gly241Trp) g.91449613G>T Copied from the Exome Variant Server MAN2A2_000048 1/12992 1/8596 0/4396
?/? c.737C>T r.(?) p.(Ala246Val) g.91449629C>T Copied from the Exome Variant Server MAN2A2_000049 1/12992 0/8596 1/4396
?/? c.738G>A r.(=) p.(=) g.91449630G>A Copied from the Exome Variant Server MAN2A2_000050 1/12992 0/8596 1/4396
?/? c.759A>G r.(=) p.(=) g.91449651A>G Copied from the Exome Variant Server MAN2A2_000051 1/12992 0/8596 1/4396
?/? c.762T>C r.(=) p.(=) g.91449654T>C Copied from the Exome Variant Server MAN2A2_000052 273/12992 134/8596 139/4396
?/? c.765G>A r.(=) p.(=) g.91449657G>A Copied from the Exome Variant Server MAN2A2_000053 1/12992 1/8596 0/4396
?/? c.810A>T r.(=) p.(=) g.91449702A>T Copied from the Exome Variant Server MAN2A2_000054 267/12992 134/8596 133/4396
?/? c.835+33C>G r.(=) p.(=) g.91449760C>G Copied from the Exome Variant Server MAN2A2_000055 255/12992 124/8596 131/4396
?/? c.835+34C>T r.(=) p.(=) g.91449761C>T Copied from the Exome Variant Server MAN2A2_000056 3/12992 2/8596 1/4396
?/? c.836-36T>C r.(=) p.(=) g.91449934T>C Copied from the Exome Variant Server MAN2A2_000057 1/12988 0/8592 1/4396
?/? c.836-11G>C r.(=) p.(=) g.91449959G>C Copied from the Exome Variant Server MAN2A2_000058 1/12992 1/8596 0/4396
?/? c.836-8C>T r.(=) p.(=) g.91449962C>T Copied from the Exome Variant Server MAN2A2_000059 313/12992 282/8596 31/4396
?/? c.848G>A r.(?) p.(Arg283His) g.91449982G>A Copied from the Exome Variant Server MAN2A2_000060 9/12992 1/8596 8/4396
?/? c.855C>A r.(=) p.(=) g.91449989C>A Copied from the Exome Variant Server MAN2A2_000061 3/12992 0/8596 3/4396
?/? c.905G>A r.(?) p.(Arg302His) g.91450039G>A Copied from the Exome Variant Server MAN2A2_000063 1/12992 0/8596 1/4396
?/? c.942G>T r.(=) p.(=) g.91450076G>T Copied from the Exome Variant Server MAN2A2_000066 1/12992 1/8596 0/4396
?/? c.1009+8C>T r.(=) p.(=) g.91450151C>T Copied from the Exome Variant Server MAN2A2_000068 2/12992 1/8596 1/4396
?/? c.1009+26T>C r.(=) p.(=) g.91450169T>C Copied from the Exome Variant Server MAN2A2_000070 1/12992 0/8596 1/4396
?/? c.1009+46C>T r.(=) p.(=) g.91450189C>T Copied from the Exome Variant Server MAN2A2_000072 1/12992 1/8596 0/4396
?/? c.1009+51G>T r.(=) p.(=) g.91450194G>T Copied from the Exome Variant Server MAN2A2_000062 1/12992 0/8596 1/4396
?/? c.1010-15G>A r.(=) p.(=) g.91450524G>A Copied from the Exome Variant Server MAN2A2_000064 265/12992 133/8596 132/4396
?/? c.1013C>T r.(?) p.(Ser338Leu) g.91450542C>T Copied from the Exome Variant Server MAN2A2_000065 1/12992 1/8596 0/4396
?/? c.1022G>C r.(?) p.(Ser341Thr) g.91450551G>C Copied from the Exome Variant Server MAN2A2_000067 2/12992 0/8596 2/4396
?/? c.1120C>T r.(?) p.(Arg374Cys) g.91450649C>T Copied from the Exome Variant Server MAN2A2_000069 1/12992 1/8596 0/4396
?/? c.1126C>T r.(?) p.(Pro376Ser) g.91450655C>T Copied from the Exome Variant Server MAN2A2_000071 1/12992 1/8596 0/4396
?/? c.1160C>T r.(?) p.(Pro387Leu) g.91450689C>T Copied from the Exome Variant Server MAN2A2_000073 1/12992 0/8596 1/4396
?/? c.1164C>A r.(=) p.(=) g.91450693C>A Copied from the Exome Variant Server MAN2A2_000074 333/12992 3/8596 330/4396
?/? c.1185C>T r.(=) p.(=) g.91450714C>T Copied from the Exome Variant Server MAN2A2_000075 1/12992 0/8596 1/4396
?/? c.1197-33C>T r.(=) p.(=) g.91452524C>T Copied from the Exome Variant Server MAN2A2_000076 135/12992 0/8596 135/4396
?/? c.1197-32G>A r.(=) p.(=) g.91452525G>A Copied from the Exome Variant Server MAN2A2_000077 1/12992 1/8596 0/4396
?/? c.1197-21A>G r.(=) p.(=) g.91452536A>G Copied from the Exome Variant Server MAN2A2_000078 3/12992 0/8596 3/4396
?/? c.1197-18del r.(=) p.(=) g.91452539del Copied from the Exome Variant Server MAN2A2_000079 7/12518 3/8254 4/4264
?/? c.1197-4C>G r.spl? p.? g.91452553C>G Copied from the Exome Variant Server MAN2A2_000080 57/12992 51/8596 6/4396
?/? c.1204C>T r.(=) p.(=) g.91452564C>T Copied from the Exome Variant Server MAN2A2_000081 1/12992 0/8596 1/4396
?/? c.1206G>A r.(=) p.(=) g.91452566G>A Copied from the Exome Variant Server MAN2A2_000082 4/12992 4/8596 0/4396
?/? c.1222C>T r.(?) p.(Arg408Trp) g.91452582C>T Copied from the Exome Variant Server MAN2A2_000083 1/12992 1/8596 0/4396
?/? c.1234C>T r.(?) p.(Gln412*) g.91452594C>T Copied from the Exome Variant Server MAN2A2_000084 20/12992 18/8596 2/4396
?/? c.1235A>G r.(?) p.(Gln412Arg) g.91452595A>G Copied from the Exome Variant Server MAN2A2_000085 3993/12992 2592/8596 1401/4396
?/? c.1244G>A r.(?) p.(Arg415Gln) g.91452604G>A Copied from the Exome Variant Server MAN2A2_000086 6/12992 4/8596 2/4396
?/? c.1252G>A r.(?) p.(Val418Ile) g.91452612G>A Copied from the Exome Variant Server MAN2A2_000087 1/12992 1/8596 0/4396
?/? c.1286A>G r.(?) p.(Tyr429Cys) g.91452646A>G Copied from the Exome Variant Server MAN2A2_000088 1/12992 1/8596 0/4396
?/? c.1374+11C>T r.(=) p.(=) g.91452745C>T Copied from the Exome Variant Server MAN2A2_000089 1/12992 1/8596 0/4396
?/? c.1375-21G>T r.(=) p.(=) g.91453299G>T Copied from the Exome Variant Server MAN2A2_000090 12/12992 7/8596 5/4396
?/? c.1381T>C r.(?) p.(Phe461Leu) g.91453326T>C Copied from the Exome Variant Server MAN2A2_000091 1/12992 0/8596 1/4396
?/? c.1404T>C r.(=) p.(=) g.91453349T>C Copied from the Exome Variant Server MAN2A2_000092 1/12992 1/8596 0/4396
?/? c.1410C>T r.(=) p.(=) g.91453355C>T Copied from the Exome Variant Server MAN2A2_000093 18/12992 0/8596 18/4396
?/? c.1422G>A r.(=) p.(=) g.91453367G>A Copied from the Exome Variant Server MAN2A2_000094 5/12992 5/8596 0/4396
?/? c.1431G>A r.(=) p.(=) g.91453376G>A Copied from the Exome Variant Server MAN2A2_000095 1/12992 0/8596 1/4396
?/? c.1490C>T r.(?) p.(Ala497Val) g.91453435C>T Copied from the Exome Variant Server MAN2A2_000096 1/12992 0/8596 1/4396
?/? c.1524C>T r.(=) p.(=) g.91453469C>T Copied from the Exome Variant Server MAN2A2_000097 1/12992 0/8596 1/4396
?/? c.1577+3G>A r.spl? p.? g.91453525G>A Copied from the Exome Variant Server MAN2A2_000098 1/12992 0/8596 1/4396
?/? c.1577+13del r.(=) p.(=) g.91453535del Copied from the Exome Variant Server MAN2A2_000099 7/12516 0/8254 7/4262
?/? c.1577+16C>T r.(=) p.(=) g.91453538C>T Copied from the Exome Variant Server MAN2A2_000100 1/12992 1/8596 0/4396
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