Unique variants in gene ABCG4

Information The variants shown are described using the NM_022169.4 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.-12-44G>A r.(=) p.(=) g.119020620G>A - ABCG4_000001 rs547189545 0.001984 1 504 1693 - - Admin
./. 1 - c.44C>T r.(?) p.(Pro15Leu) g.119020719C>T - ABCG4_000002 rs113286118 0.005814 3 516 6767 - - Admin
./. 1 - c.239-651G>A r.(=) p.(=) g.119024085G>A - ABCG4_000003 - 0.001946 1 514 2701 1 - Admin
./. 1 - c.239-308A>C r.(=) p.(=) g.119024428A>C - ABCG4_000004 rs185202824 0.001938 1 516 7048 - - Admin
./. 1 - c.239-240C>T r.(=) p.(=) g.119024496C>T - ABCG4_000005 rs573713358 0.001938 1 516 9029 - - Admin
./. 1 - c.239-143A>G r.(=) p.(=) g.119024593A>G - ABCG4_000007 rs115026493 0.003876 2 516 8980 - - Admin
./. 1 - c.304G>A r.(?) p.(Gly102Ser) g.119024801G>A - ABCG4_000009 - 0.001938 1 516 8896 1 - Admin
./. 1 - c.334A>G r.(?) p.(Met112Val) g.119024831A>G - ABCG4_000011 rs909250242 0.001938 1 516 9287 1 - Admin
./. 1 - c.357-39A>G r.(=) p.(=) g.119024931A>G - ABCG4_000013 rs4148167 0.093 48 516 9836 - - Admin
./. 1 - c.534G>A r.(=) p.(=) g.119025279G>A - ABCG4_000015 rs12277959 0.021 11 516 6441 - - Admin
./. 1 - c.541-37C>G r.(=) p.(=) g.119025443C>G - ABCG4_000017 rs11822683 0.012 6 516 5493 - - Admin
./. 1 - c.687-70C>T r.(=) p.(=) g.119026969C>T - ABCG4_000019 rs546308832 0.003876 2 516 3317 - - Admin
./. 1 - c.687-66C>G r.(=) p.(=) g.119026973C>G - ABCG4_000021 rs1297460604 0.001938 1 516 3523 1 - Admin
./. 1 - c.699C>T r.(=) p.(=) g.119027051C>T - ABCG4_000023 rs960559557 0.001938 1 516 8425 1 - Admin
./. 1 - c.925+94C>T r.(=) p.(=) g.119027482C>T - ABCG4_000025 rs4148169 0.001938 1 516 6483 - - Admin
./. 1 - c.926-94G>A r.(=) p.(=) g.119027488G>A - ABCG4_000027 rs986929808 0.001938 1 516 6691 1 - Admin
./. 1 - c.926-37G>A r.(=) p.(=) g.119027545G>A - ABCG4_000029 rs4148170 0.101 52 516 9045 - - Admin
./. 1 - c.975C>T r.(=) p.(=) g.119027631C>T - ABCG4_000031 rs35763165 0.001938 1 516 8832 - - Admin
./. 1 - c.1035C>G r.(?) p.(Asn345Lys) g.119027691C>G - ABCG4_000033 rs12271907 0.041 21 516 6158 - - Admin
./. 1 - c.1035C>T r.(=) p.(=) g.119027691C>T - ABCG4_000006 rs12271907 0.001938 1 516 6158 - - Admin
./. 1 - c.1055C>T r.(?) p.(Pro352Leu) g.119027711C>T - ABCG4_000008 rs35060365 0.014 7 516 4678 - - Admin
./. 1 - c.1069-131C>G r.(=) p.(=) g.119028813C>G - ABCG4_000010 rs626776 0.609 297 488 1589 - - Admin
./. 1 - c.1069-22C>T r.(=) p.(=) g.119028922C>T - ABCG4_000012 rs145297167 0.003876 2 516 7492 - - Admin
./. 1 - c.1069-14_1069-13insTTC r.spl? p.? g.119028930_119028931insTTC - ABCG4_000014 rs112039440 - - - - - - Admin
./. 1 - c.1167+16G>A r.(=) p.(=) g.119029058G>A - ABCG4_000016 rs192734017 0.001938 1 516 8492 - - Admin
./. 1 - c.1167+101C>T r.(=) p.(=) g.119029143C>T - ABCG4_000018 rs137946614 0.001938 1 516 8568 - - Admin
./. 1 - c.1168-78G>A r.(=) p.(=) g.119029189G>A - ABCG4_000020 rs115411701 0.001938 1 516 9124 - - Admin
./. 1 - c.1179C>T r.(=) p.(=) g.119029278C>T - ABCG4_000022 rs768567393 0.001938 1 516 9678 - - Admin
./. 1 - c.1438-16C>T r.(=) p.(=) g.119030921C>T - ABCG4_000024 rs200475405 0.001938 1 516 9196 - - Admin
./. 1 - c.1596+34G>T r.(=) p.(=) g.119031129G>T - ABCG4_000026 rs202096510 0.001938 1 516 9365 - - Admin
./. 1 - c.1715+80G>A r.(=) p.(=) g.119031446G>A - ABCG4_000028 rs76446609 0.027 14 516 7598 - - Admin
./. 1 - c.1794G>A r.(=) p.(=) g.119031669G>A - ABCG4_000030 rs117432650 0.005814 3 516 9327 - - Admin
./. 1 - c.*25_*26insC r.(=) p.(=) g.119031841_119031842insC - ABCG4_000032 rs11383101 - - - - - - Admin
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