Unique variants in gene ABCB5

Information The variants shown are described using the NM_178559.5 transcript reference sequence.

285 entries on 3 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-4743del r.(=) p.(=) g.20682769del Copied from the Exome Variant Server ABCB5_000001 21/10390 0/7078 21/3312
1 c.-4741G>C r.(=) p.(=) g.20682771G>C Copied from the Exome Variant Server ABCB5_000002 8/10292 0/7158 8/3134
1 c.-4727C>T r.(=) p.(=) g.20682785C>T Copied from the Exome Variant Server ABCB5_000003 1/10300 0/7164 1/3136
1 c.-4709T>G r.(=) p.(=) g.20682803T>G Copied from the Exome Variant Server ABCB5_000004 1/10300 0/7164 1/3136
1 c.-4651A>G r.(=) p.(=) g.20682861A>G Copied from the Exome Variant Server ABCB5_000005 1/10300 1/7164 0/3136
1 c.-4639G>A r.(=) p.(=) g.20682873G>A Copied from the Exome Variant Server ABCB5_000006 1/10300 0/7164 1/3136
1 c.-4636G>T r.(=) p.(=) g.20682876G>T Copied from the Exome Variant Server ABCB5_000007 1/10300 1/7164 0/3136
1 c.-4628C>T r.(=) p.(=) g.20682884C>T Copied from the Exome Variant Server ABCB5_000008 424/10300 196/7164 228/3136
1 c.-4620C>T r.(=) p.(=) g.20682892C>T Copied from the Exome Variant Server ABCB5_000009 16/10300 8/7164 8/3136
1 c.-4619G>A r.(=) p.(=) g.20682893G>A Copied from the Exome Variant Server ABCB5_000010 2/10300 2/7164 0/3136
1 c.-4612C>T r.(=) p.(=) g.20682900C>T Copied from the Exome Variant Server ABCB5_000011 2/10300 2/7164 0/3136
1 c.-4601G>A r.(=) p.(=) g.20682911G>A Copied from the Exome Variant Server ABCB5_000012 1/10300 0/7164 1/3136
1 c.-4574C>T r.(=) p.(=) g.20682938C>T Copied from the Exome Variant Server ABCB5_000013 1/10300 1/7164 0/3136
1 c.-4563G>A r.(=) p.(=) g.20682949G>A Copied from the Exome Variant Server ABCB5_000014 15/10300 1/7164 14/3136
1 c.-4523G>A r.(=) p.(=) g.20682989G>A Copied from the Exome Variant Server ABCB5_000015 1/10300 0/7164 1/3136
1 c.-4516A>G r.(=) p.(=) g.20682996A>G Copied from the Exome Variant Server ABCB5_000016 1/10300 1/7164 0/3136
1 c.-4490G>A r.(=) p.(=) g.20683022G>A Copied from the Exome Variant Server ABCB5_000017 3/10300 2/7164 1/3136
1 c.-4481del r.(=) p.(=) g.20683031del Copied from the Exome Variant Server ABCB5_000019 3/10830 1/7274 2/3556
1 c.-4466A>G r.(=) p.(=) g.20683046A>G Copied from the Exome Variant Server ABCB5_000021 1/10300 0/7164 1/3136
1 c.-4438C>T r.(=) p.(=) g.20683074C>T Copied from the Exome Variant Server ABCB5_000024 1/10300 1/7164 0/3136
1 c.-4412A>G r.(=) p.(=) g.20683100A>G Copied from the Exome Variant Server ABCB5_000026 1/10300 1/7164 0/3136
1 c.-4393A>G r.(=) p.(=) g.20683119A>G Copied from the Exome Variant Server ABCB5_000018 1/10300 1/7164 0/3136
1 c.-4356G>A r.(=) p.(=) g.20683156G>A Copied from the Exome Variant Server ABCB5_000020 11/10300 0/7164 11/3136
1 c.-4355A>G r.(=) p.(=) g.20683157A>G Copied from the Exome Variant Server ABCB5_000022 2/10300 0/7164 2/3136
1 c.-4342T>C r.(=) p.(=) g.20683170T>C Copied from the Exome Variant Server ABCB5_000023 107/10300 101/7164 6/3136
1 c.-4315C>T r.(=) p.(=) g.20683197C>T Copied from the Exome Variant Server ABCB5_000025 7/10300 0/7164 7/3136
1 c.-4308G>T r.(=) p.(=) g.20683204G>T Copied from the Exome Variant Server ABCB5_000027 1046/10300 957/7164 89/3136
1 c.-4306C>G r.(=) p.(=) g.20683206C>G Copied from the Exome Variant Server ABCB5_000028 3/10300 3/7164 0/3136
1 c.-4297C>T r.(=) p.(=) g.20683215C>T Copied from the Exome Variant Server ABCB5_000029 1/10300 0/7164 1/3136
1 c.-4290T>A r.(=) p.(=) g.20683222T>A Copied from the Exome Variant Server ABCB5_000030 4/10300 0/7164 4/3136
1 c.-4285T>C r.(=) p.(=) g.20683227T>C Copied from the Exome Variant Server ABCB5_000031 5/10300 0/7164 5/3136
1 c.-4268G>T r.(=) p.(=) g.20683244G>T Copied from the Exome Variant Server ABCB5_000032 1/10300 1/7164 0/3136
1 c.-4266A>G r.(=) p.(=) g.20683246A>G Copied from the Exome Variant Server ABCB5_000033 1/10300 1/7164 0/3136
1 c.-4257G>A r.(=) p.(=) g.20683255G>A Copied from the Exome Variant Server ABCB5_000034 10/10300 0/7164 10/3136
1 c.-2170_-2169del r.(=) p.(=) g.20685342_20685343del Copied from the Exome Variant Server ABCB5_000035 47/10206 44/6992 3/3214
1 c.-2143T>G r.(=) p.(=) g.20685369T>G Copied from the Exome Variant Server ABCB5_000036 165/10300 0/7164 165/3136
1 c.-2062G>A r.(=) p.(=) g.20685450G>A Copied from the Exome Variant Server ABCB5_000037 99/10300 1/7164 98/3136
1 c.-2033G>A r.(=) p.(=) g.20685479G>A Copied from the Exome Variant Server ABCB5_000038 22/10300 0/7164 22/3136
1 c.-2028C>A r.(=) p.(=) g.20685484C>A Copied from the Exome Variant Server ABCB5_000039 66/10300 46/7164 20/3136
1 c.-2022A>G r.(=) p.(=) g.20685490A>G Copied from the Exome Variant Server ABCB5_000040 1/10300 0/7164 1/3136
1 c.-2004T>G r.(=) p.(=) g.20685508T>G Copied from the Exome Variant Server ABCB5_000041 3621/10300 2146/7164 1475/3136
1 c.-2000T>C r.(=) p.(=) g.20685512T>C Copied from the Exome Variant Server ABCB5_000042 1/10300 0/7164 1/3136
1 c.-1956C>T r.(=) p.(=) g.20685556C>T Copied from the Exome Variant Server ABCB5_000043 1/10300 1/7164 0/3136
1 c.-1867G>T r.(=) p.(=) g.20685645G>T Copied from the Exome Variant Server ABCB5_000044 1/10300 0/7164 1/3136
1 c.-1842T>C r.(=) p.(=) g.20685670T>C Copied from the Exome Variant Server ABCB5_000045 1/10300 1/7164 0/3136
1 c.-1810T>A r.(=) p.(=) g.20685702T>A Copied from the Exome Variant Server ABCB5_000046 26/10300 0/7164 26/3136
1 c.-1809A>G r.(=) p.(=) g.20685703A>G Copied from the Exome Variant Server ABCB5_000047 1/10300 1/7164 0/3136
1 c.-1764G>A r.(=) p.(=) g.20685748G>A Copied from the Exome Variant Server ABCB5_000048 1/10300 1/7164 0/3136
1 c.-1726G>A r.(=) p.(=) g.20685786G>A Copied from the Exome Variant Server ABCB5_000049 2700/10300 1490/7164 1210/3136
1 c.-1713A>G r.(=) p.(=) g.20685799A>G Copied from the Exome Variant Server ABCB5_000050 1/10300 0/7164 1/3136
1 c.-379A>G r.(=) p.(=) g.20687133A>G Copied from the Exome Variant Server ABCB5_000051 5/10254 0/7128 5/3126
1 c.-376A>G r.(=) p.(=) g.20687136A>G Copied from the Exome Variant Server ABCB5_000052 1/10262 0/7134 1/3128
1 c.-371_-368del r.(=) p.(=) g.20687141_20687144del Copied from the Exome Variant Server ABCB5_000053 26/10206 14/6992 12/3214
1 c.-331C>T r.(=) p.(=) g.20687181C>T Copied from the Exome Variant Server ABCB5_000054 2667/10294 1478/7160 1189/3134
1 c.-320T>C r.(=) p.(=) g.20687192T>C Copied from the Exome Variant Server ABCB5_000055 1/10296 1/7162 0/3134
1 c.-309G>A r.(=) p.(=) g.20687203G>A Copied from the Exome Variant Server ABCB5_000056 1/10296 0/7162 1/3134
1 c.-288G>A r.(=) p.(=) g.20687224G>A Copied from the Exome Variant Server ABCB5_000057 9/10296 0/7162 9/3134
1 c.-280C>T r.(=) p.(=) g.20687232C>T Copied from the Exome Variant Server ABCB5_000058 1/10288 1/7160 0/3128
1 c.-279C>T r.(=) p.(=) g.20687233C>T Copied from the Exome Variant Server ABCB5_000059 22/10288 1/7160 21/3128
1 c.-253G>C r.(=) p.(=) g.20687259G>C Copied from the Exome Variant Server ABCB5_000060 1/10288 0/7160 1/3128
1 c.-241+30C>G r.(=) p.(=) g.20687301C>G Copied from the Exome Variant Server ABCB5_000061 1/10216 1/7110 0/3106
1 c.-240-41A>G r.(=) p.(=) g.20687550A>G Copied from the Exome Variant Server ABCB5_000062 1/10280 0/7148 1/3132
1 c.-231A>G r.(=) p.(=) g.20687600A>G Copied from the Exome Variant Server ABCB5_000063 130/10294 2/7158 128/3136
1 c.-227A>G r.(=) p.(=) g.20687604A>G Copied from the Exome Variant Server ABCB5_000064 1051/10294 962/7158 89/3136
1 c.-130+19C>T r.(=) p.(=) g.20687720C>T Copied from the Exome Variant Server ABCB5_000065 5/10294 5/7160 0/3134
1 c.-130+20G>A r.(=) p.(=) g.20687721G>A Copied from the Exome Variant Server ABCB5_000066 1/10294 1/7160 0/3134
1 c.-129-25_-129-24insT r.(=) p.(=) g.20689620_20689621insT Copied from the Exome Variant Server ABCB5_000067 1/10270 0/7034 1/3236
1 c.-129-12A>G r.(=) p.(=) g.20689633A>G Copied from the Exome Variant Server ABCB5_000068 1/10300 0/7164 1/3136
1 c.-129-4A>G r.(=) p.(=) g.20689641A>G Copied from the Exome Variant Server ABCB5_000069 1/10300 1/7164 0/3136
1 c.-125T>G r.(=) p.(=) g.20689649T>G Copied from the Exome Variant Server ABCB5_000070 11/10300 0/7164 11/3136
1 c.-84G>A r.(=) p.(=) g.20689690G>A Copied from the Exome Variant Server ABCB5_000071 2/10300 1/7164 1/3136
1 c.-78G>A r.(=) p.(=) g.20689696G>A Copied from the Exome Variant Server ABCB5_000072 1/10300 0/7164 1/3136
1 c.-62G>A r.(=) p.(=) g.20689712G>A Copied from the Exome Variant Server ABCB5_000073 1/10300 1/7164 0/3136
1 c.-50C>T r.(=) p.(=) g.20689724C>T Copied from the Exome Variant Server ABCB5_000074 15/10300 0/7164 15/3136
1 c.-40G>A r.(=) p.(=) g.20689734G>A Copied from the Exome Variant Server ABCB5_000075 13/10300 13/7164 0/3136
1 c.-24T>C r.(=) p.(=) g.20689750T>C Copied from the Exome Variant Server ABCB5_000076 1/10300 0/7164 1/3136
1 c.-4+5G>C r.(=) p.(=) g.20689775G>C Copied from the Exome Variant Server ABCB5_000077 1/10300 1/7164 0/3136
1 c.-4+16A>G r.(=) p.(=) g.20689786A>G Copied from the Exome Variant Server ABCB5_000078 1/10300 1/7164 0/3136
1 c.-4+37A>G r.(=) p.(=) g.20689807A>G Copied from the Exome Variant Server ABCB5_000079 1029/10300 18/7164 1011/3136
1 c.-4+40G>A r.(=) p.(=) g.20689810G>A Copied from the Exome Variant Server ABCB5_000080 1/10300 1/7164 0/3136
1 c.-4+43_-4+44insT r.(=) p.(=) g.20689813_20689814insT Copied from the Exome Variant Server ABCB5_000081 1/10454 0/7130 1/3324
1 c.-3-30C>T r.(=) p.(=) g.20691013C>T Copied from the Exome Variant Server ABCB5_000082 3457/13006 1407/8600 2050/4406
1 c.-3-9G>A r.(=) p.(=) g.20691034G>A Copied from the Exome Variant Server ABCB5_000083 1/13006 0/8600 1/4406
1 c.-3-2A>G r.(=) p.(=) g.20691041A>G Copied from the Exome Variant Server ABCB5_000084 7/13006 6/8600 1/4406
1 c.2T>C r.? p.? g.20691047T>C Copied from the Exome Variant Server ABCB5_000085 2014/13006 1749/8600 265/4406
1 c.37C>T r.(?) p.(Arg13Trp) g.20691082C>T Copied from the Exome Variant Server ABCB5_000086 6/13006 0/8600 6/4406
1 c.38G>A r.(?) p.(Arg13Gln) g.20691083G>A Copied from the Exome Variant Server ABCB5_000087 9/13006 1/8600 8/4406
1 c.47G>A r.(?) p.(Arg16Gln) g.20691092G>A Copied from the Exome Variant Server ABCB5_000088 1/13006 0/8600 1/4406
1 c.76C>G r.(?) p.(Pro26Ala) g.20691121C>G Copied from the Exome Variant Server ABCB5_000089 1/13006 1/8600 0/4406
1 c.122G>A r.(?) p.(Arg41Gln) g.20691167G>A Copied from the Exome Variant Server ABCB5_000090 33/13006 29/8600 4/4406
1 c.135T>A r.(=) p.(=) g.20691180T>A Copied from the Exome Variant Server ABCB5_000091 1/13006 0/8600 1/4406
1 c.174G>A r.(=) p.(=) g.20691219G>A Copied from the Exome Variant Server ABCB5_000093 1328/13006 1137/8600 191/4406
1 c.201T>C r.(=) p.(=) g.20691246T>C Copied from the Exome Variant Server ABCB5_000095 16/13006 0/8600 16/4406
1 c.201+8C>A r.(=) p.(=) g.20691254C>A Copied from the Exome Variant Server ABCB5_000097 1/13006 0/8600 1/4406
1 c.201+24T>C r.(=) p.(=) g.20691270T>C Copied from the Exome Variant Server ABCB5_000099 178/13006 2/8600 176/4406
1 c.201+43G>A r.(=) p.(=) g.20691289G>A Copied from the Exome Variant Server ABCB5_000101 1/13006 0/8600 1/4406
1 c.201+44C>T r.(=) p.(=) g.20691290C>T Copied from the Exome Variant Server ABCB5_000092 9/13006 8/8600 1/4406
1 c.201+49C>T r.(=) p.(=) g.20691295C>T Copied from the Exome Variant Server ABCB5_000094 2/13006 1/8600 1/4406
1 c.202-52C>G r.(=) p.(=) g.20698077C>G Copied from the Exome Variant Server ABCB5_000096 1121/5734 817/3982 304/1752
1 c.202-42C>T r.(=) p.(=) g.20698087C>T Copied from the Exome Variant Server ABCB5_000098 1/13006 1/8600 0/4406
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