Unique variants in gene ABCB4

Information The variants shown are described using the NM_000443.3 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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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.-6-4T>C r.spl? p.? g.87104791A>G - ABCB4_000072 rs8187785 0.003876 2 516 7416 - - Admin
./. 1 - c.-1G>A r.(=) p.(=) g.87104782C>T - ABCB4_000071 rs45449704 0.001938 1 516 7862 - - Admin
./. 1 - c.80+114G>C r.(=) p.(=) g.87104588C>G - ABCB4_000070 rs45619531 0.00969 5 516 5558 - - Admin
./. 1 - c.80+137A>T r.(=) p.(=) g.87104565T>A - ABCB4_000069 rs45615437 0.003876 2 516 3769 - - Admin
./. 1 - c.81-16A>G r.(=) p.(=) g.87102007T>C - ABCB4_000068 rs45552835 0.001938 1 516 3508 - - Admin
./. 1 - c.135+171A>G r.(=) p.(=) g.87101766T>C - ABCB4_000067 rs45590732 0.034 17 500 1460 - - Admin
./. 1 - c.136-81del r.(=) p.(=) g.87092305del - ABCB4_000066 rs149935119 0.006148 3 488 1034 - - Admin
./. 1 - c.136-74C>T r.(=) p.(=) g.87092298G>A - ABCB4_000065 rs115043985 0.006148 3 488 1034 - - Admin
./. 1 - c.140G>A r.(?) p.(Arg47Gln) g.87092220C>T - ABCB4_000064 rs372685632 0.001938 1 516 4175 - - Admin
./. 1 - c.147C>T r.(=) p.(=) g.87092213G>A - ABCB4_000063 rs8187789 0.007752 4 516 4724 - - Admin
./. 1 - c.175C>T r.(=) p.(=) g.87092185G>A - ABCB4_000062 rs2302387 0.171 88 516 5901 - - Admin
./. 1 - c.217C>G r.(?) p.(Leu73Val) g.87092143G>C - ABCB4_000061 rs8187788 0.001938 1 516 6656 - - Admin
./. 1 - c.287-61C>T r.(=) p.(=) g.87083969G>A - ABCB4_000060 rs45626341 0.016 8 512 1654 - - Admin
./. 1 - c.344+113A>G r.(=) p.(=) g.87083738T>C - ABCB4_000059 rs4148818 0.161 75 466 892 - - Admin
./. 1 - c.345-50_345-46del r.(=) p.(=) g.87082497_87082501del - ABCB4_000058 rs199500302 0.003876 2 516 3560 - - Admin
./. 1 - c.456G>A r.(=) p.(=) g.87082340C>T - ABCB4_000057 rs147333055 0.003876 2 516 3560 - - Admin
./. 1 - c.459T>C r.(=) p.(=) g.87082337A>G - ABCB4_000056 rs2230027 0.007752 4 516 3526 - - Admin
./. 1 - c.504C>T r.(=) p.(=) g.87082292G>A - ABCB4_000055 rs1202283 0.428 221 516 3241 - - Admin
./. 1 - c.523A>G r.(?) p.(Thr175Ala) g.87082273T>C - ABCB4_000054 rs58238559 0.003876 2 516 2908 - - Admin
./. 1 - c.536+11T>C r.(=) p.(=) g.87082249A>G - ABCB4_000053 rs8187790 0.001946 1 514 2202 - - Admin
./. 1 - c.537-44C>A r.(=) p.(=) g.87081154G>T - ABCB4_000052 rs375758922 0.001938 1 516 3572 - - Admin
./. 1 - c.708G>A r.(=) p.(=) g.87080939C>T - ABCB4_000051 rs773702342 0.003876 2 516 2858 2 - Admin
./. 1 - c.709-146G>A r.(=) p.(=) g.87079554C>T - ABCB4_000050 - 0.001938 1 516 3714 1 - Admin
./. 1 - c.711A>T r.(=) p.(=) g.87079406T>A - ABCB4_000049 rs2109505 0.18 93 516 7520 - - Admin
./. 1 - c.805T>C r.(?) p.(Phe269Leu) g.87079312A>G - ABCB4_000048 rs756070393 0.001938 1 516 8220 - - Admin
./. 1 - c.833+6G>A r.(=) p.(=) g.87079278C>T - ABCB4_000047 rs202146217 0.001938 1 516 8034 - - Admin
./. 1 - c.834-66G>T r.(=) p.(=) g.87076587C>A - ABCB4_000046 rs1014283 0.184 92 500 1691 - - Admin
./. 1 - c.1005+98A>G r.(=) p.(=) g.87076252T>C - ABCB4_000045 rs45505300 0.004132 2 484 1075 - - Admin
./. 1 - c.1006-128A>G r.(=) p.(=) g.87074419T>C - ABCB4_000044 rs4148826 0.169 74 438 803 - - Admin
./. 1 - c.1006-117del r.(=) p.(=) g.87074408del - ABCB4_000043 rs892127483 0.007752 4 516 2728 - - Admin
./. 1 - c.1006-117dup r.(=) p.(=) g.87074408dup - ABCB4_000042 rs892127483 0.007752 4 516 2728 - - Admin
./. 1 - c.1231-81del r.(=) p.(=) g.87072841del - ABCB4_000041 rs3834727 0.007752 4 516 2728 - - Admin
./. 1 - c.1231-70A>G r.(=) p.(=) g.87072830T>C - ABCB4_000040 rs45622746 0.007752 4 516 2728 - - Admin
./. 1 - c.1314G>A r.(=) p.(=) g.87072677C>T - ABCB4_000039 rs45624933 0.003876 2 516 6403 - - Admin
./. 1 - c.1356+26A>G r.(=) p.(=) g.87072609T>C - ABCB4_000038 rs45505699 0.003876 2 516 5532 - - Admin
./. 1 - c.1357-40A>G r.(=) p.(=) g.87069758T>C - ABCB4_000037 rs31675 0.929 474 510 1576 - - Admin
./. 1 - c.1584G>C r.(?) p.(Glu528Asp) g.87069130C>G - ABCB4_000036 rs8187797 0.003876 2 516 8912 - - Admin
./. 1 - c.1769G>A r.(?) p.(Arg590Gln) g.87060844C>T - ABCB4_000035 rs45575636 0.00969 5 516 6564 - - Admin
./. 1 - c.1894-33_1894-32insACACACACAC r.(=) p.(=) g.87056268_87056269insGTGTGTGTGT - ABCB4_000034 rs1334620243 - - - - - - Admin
./. 1 - c.1894-32_1894-31dup r.(=) p.(=) g.87056267_87056268dup - ABCB4_000033 rs1334620243 0.001938 1 516 2538 1 - Admin
./. 1 - c.1894-32_1894-29dup r.(=) p.(=) g.87056265_87056268dup - ABCB4_000032 rs1334620243 0.001938 1 516 2538 1 - Admin
./. 1 - c.1894-32_1894-27dup r.(=) p.(=) g.87056263_87056268dup - ABCB4_000031 rs1334620243 0.001938 1 516 2538 1 - Admin
./. 1 - c.1894-32_1894-25del r.(=) p.(=) g.87056261_87056268del - ABCB4_000029 rs1334620243 - - - - - - Admin
./. 1 - c.1894-32_1894-25dup r.(=) p.(=) g.87056261_87056268dup - ABCB4_000030 rs1334620243 - - - - - - Admin
./. 1 - c.1894-23T>C r.(=) p.(=) g.87056259A>G - ABCB4_000028 rs764900130 0.004184 2 478 1817 - - Admin
./. 1 - c.1952C>A r.(?) p.(Thr651Asn) g.87056178G>T - ABCB4_000027 rs45476795 0.001938 1 516 4614 - - Admin
./. 1 - c.1954A>G r.(?) p.(Arg652Gly) g.87056176T>C - ABCB4_000026 rs2230028 0.105 54 516 4714 - - Admin
./. 1 - c.2064+55A>G r.(=) p.(=) g.87056011T>C - ABCB4_000025 rs1017054 0.1 51 512 2179 - - Admin
./. 1 - c.2144C>T r.(?) p.(Thr715Ile) g.87053289G>A - ABCB4_000024 rs138773456 0.001938 1 516 6666 - - Admin
./. 1 - c.2211G>A r.(=) p.(=) g.87053222C>T - ABCB4_000023 rs763404399 0.001938 1 516 6360 - - Admin
./. 1 - c.2211+16C>T r.(=) p.(=) g.87053206G>A - ABCB4_000022 rs31668 0.934 482 516 6386 - - Admin
./. 1 - c.2211+72T>C r.(=) p.(=) g.87053150A>G - ABCB4_000021 rs31667 0.812 419 516 4717 - - Admin
./. 1 - c.2317-116T>C r.(=) p.(=) g.87049507A>G - ABCB4_000020 rs570801595 0.006 3 500 1295 - - Admin
./. 1 - c.2325G>C r.(=) p.(=) g.87049383C>G - ABCB4_000019 rs8187802 0.005814 3 516 6796 - - Admin
./. 1 - c.2363G>A r.(?) p.(Arg788Gln) g.87049345C>T - ABCB4_000018 rs8187801 0.019 10 516 7860 - - Admin
./. 1 - c.2394+96T>C r.(=) p.(=) g.87049218A>G - ABCB4_000017 rs560316959 0.001938 1 516 3701 - - Admin
./. 1 - c.2394+139A>C r.(=) p.(=) g.87049175T>G - ABCB4_000016 rs142818792 0.001938 1 516 2180 - - Admin
./. 1 - c.2395-19C>T r.(=) p.(=) g.87047955G>A - ABCB4_000015 rs45593648 0.001938 1 516 2653 - - Admin
./. 1 - c.2478+40A>G r.(=) p.(=) g.87047813T>C - ABCB4_000014 rs7788404 0.081 42 516 5013 - - Admin
./. 1 - c.2479-66del r.(=) p.(=) g.87046897del - ABCB4_000013 rs397889088 0.001938 1 516 2538 1 - Admin
./. 1 - c.2682+1G>A r.spl? p.? g.87046627C>T - ABCB4_000012 rs1012575668 0.001938 1 516 2538 1 - Admin
./. 1 - c.2682+20A>T r.(=) p.(=) g.87046608T>A - ABCB4_000011 rs377042498 0.001946 1 514 1862 - - Admin
./. 1 - c.2682+81A>C r.(=) p.(=) g.87046547T>G - ABCB4_000010 rs17149562 0.002232 1 448 631 - - Admin
./. 1 - c.2683-29T>G r.(=) p.(=) g.87043062A>C - ABCB4_000009 - 0.001938 1 516 3973 1 - Admin
./. 1 - c.2784-12T>C r.(=) p.(=) g.87041361A>G - ABCB4_000008 rs201498350 0.001938 1 516 8314 - - Admin
./. 1 - c.2924+65T>A r.(=) p.(=) g.87041144A>T - ABCB4_000007 rs17149542 0.008333 4 480 768 - - Admin
./. 1 - c.2952A>G r.(=) p.(=) g.87038681T>C - ABCB4_000006 rs45574932 0.003876 2 516 5113 - - Admin
./. 1 - c.3082-119C>T r.(=) p.(=) g.87037669G>A - ABCB4_000005 rs45484901 0.014 7 484 1313 - - Admin
./. 1 - c.3280-91_3280-90insATG r.(=) p.(=) g.87035900_87035901insCAT - ABCB4_000004 rs45516496 - - - - - - Admin
./. 1 - c.3486+30A>G r.(=) p.(=) g.87035574T>C - ABCB4_000003 rs772677910 0.001938 1 516 8483 - - Admin
./. 1 - c.3487-16T>C r.(=) p.(=) g.87032613A>G - ABCB4_000002 rs31653 0.924 477 516 3382 - - Admin
./. 1 - c.3634-72T>C r.(=) p.(=) g.87031690A>G - ABCB4_000001 rs45549641 0.101 52 516 3417 - - Admin
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