Unique variants in gene ABCA13

Information The variants shown are described using the NM_152701.3 transcript reference sequence.

784 entries on 8 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8     Next › Last »

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.9T>C r.(=) p.(=) g.48211089T>C Copied from the Exome Variant Server ABCA13_000001 1/4566 0/3182 1/1384
1 c.10G>A r.(?) p.(Ala4Thr) g.48211090G>A Copied from the Exome Variant Server ABCA13_000002 2/4566 1/3182 1/1384
1 c.68C>T r.(?) p.(Pro23Leu) g.48211148C>T Copied from the Exome Variant Server ABCA13_000003 1/4566 1/3182 0/1384
1 c.70-25_70-24del r.(=) p.(=) g.48232531_48232532del Copied from the Exome Variant Server ABCA13_000004 40/5248 26/3598 14/1650
1 c.70-24del r.(=) p.(=) g.48232532del Copied from the Exome Variant Server ABCA13_000006 1313/5248 863/3598 450/1650
1 c.70-24dup r.(=) p.(=) g.48232532dup Copied from the Exome Variant Server ABCA13_000005 1013/5248 739/3598 274/1650
1 c.94T>C r.(?) p.(Trp32Arg) g.48232580T>C Copied from the Exome Variant Server ABCA13_000007 4/4566 4/3182 0/1384
1 c.164-32C>T r.(=) p.(=) g.48237802C>T Copied from the Exome Variant Server ABCA13_000008 4647/11796 3999/8144 648/3652
1 c.164-10C>T r.(=) p.(=) g.48237824C>T Copied from the Exome Variant Server ABCA13_000009 1996/11816 1115/8152 881/3664
1 c.170T>C r.(?) p.(Leu57Ser) g.48237840T>C Copied from the Exome Variant Server ABCA13_000010 1/11828 1/8156 0/3672
1 c.178C>T r.(?) p.(Arg60*) g.48237848C>T Copied from the Exome Variant Server ABCA13_000011 1/11822 1/8162 0/3660
1 c.197G>A r.(?) p.(Gly66Asp) g.48237867G>A Copied from the Exome Variant Server ABCA13_000012 1/11880 1/8182 0/3698
1 c.236G>C r.(?) p.(Gly79Ala) g.48237906G>C Copied from the Exome Variant Server ABCA13_000013 5/11932 0/8220 5/3712
1 c.249G>A r.(=) p.(=) g.48237919G>A Copied from the Exome Variant Server ABCA13_000014 6/11912 6/8206 0/3706
1 c.261T>G r.(?) p.(Tyr87*) g.48237931T>G Copied from the Exome Variant Server ABCA13_000015 1/11906 1/8202 0/3704
1 c.288-44T>C r.(=) p.(=) g.48258907T>C Copied from the Exome Variant Server ABCA13_000016 3/11786 0/8164 3/3622
1 c.288-36del r.(=) p.(=) g.48258915del Copied from the Exome Variant Server ABCA13_000017 10/11332 8/7828 2/3504
1 c.288-1G>C r.spl? p.? g.48258950G>C Copied from the Exome Variant Server ABCA13_000018 3/11780 0/8154 3/3626
1 c.330C>T r.(=) p.(=) g.48258993C>T Copied from the Exome Variant Server ABCA13_000019 1/11812 0/8172 1/3640
1 c.394G>A r.(?) p.(Ala132Thr) g.48259057G>A Copied from the Exome Variant Server ABCA13_000020 3/11936 3/8210 0/3726
1 c.424C>T r.(?) p.(Arg142*) g.48259087C>T Copied from the Exome Variant Server ABCA13_000021 2/12086 1/8266 1/3820
1 c.439+11C>G r.(=) p.(=) g.48259113C>G Copied from the Exome Variant Server ABCA13_000024 27/12236 0/8308 27/3928
1 c.440-9T>G r.(=) p.(=) g.48260869T>G Copied from the Exome Variant Server ABCA13_000026 2405/11456 1809/7958 596/3498
1 c.456C>T r.(=) p.(=) g.48260894C>T Copied from the Exome Variant Server ABCA13_000028 12/11488 0/7986 12/3502
1 c.468+26A>T r.(=) p.(=) g.48260932A>T Copied from the Exome Variant Server ABCA13_000022 6/11440 0/7960 6/3480
1 c.469-44A>G r.(=) p.(=) g.48266815A>G Copied from the Exome Variant Server ABCA13_000023 4/11714 4/8134 0/3580
1 c.469-30A>C r.(=) p.(=) g.48266829A>C Copied from the Exome Variant Server ABCA13_000025 3/11714 0/8132 3/3582
1 c.469-23T>A r.(=) p.(=) g.48266836T>A Copied from the Exome Variant Server ABCA13_000027 6/11718 0/8134 6/3584
1 c.469-16del r.(=) p.(=) g.48266843del Copied from the Exome Variant Server ABCA13_000030 26/11284 15/7808 11/3476
1 c.469-16dup r.(=) p.(=) g.48266843dup Copied from the Exome Variant Server ABCA13_000029 1033/11284 826/7808 207/3476
1 c.479A>G r.(?) p.(Asn160Ser) g.48266869A>G Copied from the Exome Variant Server ABCA13_000031 10/11816 0/8178 10/3638
1 c.486C>A r.(=) p.(=) g.48266876C>A Copied from the Exome Variant Server ABCA13_000032 171/11832 64/8178 107/3654
1 c.487G>A r.(?) p.(Glu163Lys) g.48266877G>A Copied from the Exome Variant Server ABCA13_000033 8/11844 1/8182 7/3662
1 c.556C>G r.(?) p.(Pro186Ala) g.48266946C>G Copied from the Exome Variant Server ABCA13_000034 1/12012 0/8240 1/3772
1 c.558G>A r.(=) p.(=) g.48266948G>A Copied from the Exome Variant Server ABCA13_000035 1/12026 1/8244 0/3782
1 c.578A>G r.(?) p.(Asp193Gly) g.48266968A>G Copied from the Exome Variant Server ABCA13_000036 1/12042 0/8264 1/3778
1 c.632+20A>G r.(=) p.(=) g.48267042A>G Copied from the Exome Variant Server ABCA13_000037 4/11830 3/8164 1/3666
1 c.632+24_632+25insT r.(=) p.(=) g.48267046_48267047insT Copied from the Exome Variant Server ABCA13_000038 1/11384 1/7838 0/3546
1 c.632+34A>G r.(=) p.(=) g.48267056A>G Copied from the Exome Variant Server ABCA13_000039 1/11794 0/8154 1/3640
1 c.649G>A r.(?) p.(Glu217Lys) g.48269438G>A Copied from the Exome Variant Server ABCA13_000040 2/11908 2/8192 0/3716
1 c.674A>G r.(?) p.(Asn225Ser) g.48269463A>G Copied from the Exome Variant Server ABCA13_000041 4/11924 4/8200 0/3724
1 c.693T>A r.(=) p.(=) g.48269482T>A Copied from the Exome Variant Server ABCA13_000042 3/11944 3/8218 0/3726
1 c.698A>G r.(?) p.(Glu233Gly) g.48269487A>G Copied from the Exome Variant Server ABCA13_000043 1/11948 0/8218 1/3730
1 c.719T>C r.(?) p.(Ile240Thr) g.48269508T>C Copied from the Exome Variant Server ABCA13_000044 1/12010 1/8252 0/3758
1 c.763+28A>G r.(=) p.(=) g.48269580A>G Copied from the Exome Variant Server ABCA13_000045 4/11892 1/8198 3/3694
1 c.763+38G>A r.(=) p.(=) g.48269590G>A Copied from the Exome Variant Server ABCA13_000046 1/11882 1/8188 0/3694
1 c.763+43A>G r.(=) p.(=) g.48269595A>G Copied from the Exome Variant Server ABCA13_000047 4/11870 1/8186 3/3684
1 c.771T>G r.(=) p.(=) g.48273622T>G Copied from the Exome Variant Server ABCA13_000048 6/11950 6/8228 0/3722
1 c.772T>G r.(?) p.(Tyr258Asp) g.48273623T>G Copied from the Exome Variant Server ABCA13_000049 1/11952 1/8228 0/3724
1 c.798G>A r.(=) p.(=) g.48273649G>A Copied from the Exome Variant Server ABCA13_000050 1/12060 1/8258 0/3802
1 c.801_803del r.(?) p.(Trp267_Asp268delinsCys) g.48273652_48273654del Copied from the Exome Variant Server ABCA13_000051 3/11590 0/7910 3/3680
1 c.813A>C r.(?) p.(Lys271Asn) g.48273664A>C Copied from the Exome Variant Server ABCA13_000052 1/12138 0/8278 1/3860
1 c.834C>A r.(=) p.(=) g.48273685C>A Copied from the Exome Variant Server ABCA13_000053 1/12240 1/8320 0/3920
1 c.897G>T r.(?) p.(Glu299Asp) g.48273748G>T Copied from the Exome Variant Server ABCA13_000054 1/12588 0/8436 1/4152
1 c.897+8T>A r.(=) p.(=) g.48273756T>A Copied from the Exome Variant Server ABCA13_000055 1/12600 1/8444 0/4156
1 c.897+24A>G r.(=) p.(=) g.48273772A>G Copied from the Exome Variant Server ABCA13_000056 293/12602 3/8458 290/4144
1 c.897+28C>T r.(=) p.(=) g.48273776C>T Copied from the Exome Variant Server ABCA13_000057 1/12588 1/8450 0/4138
1 c.897+29G>A r.(=) p.(=) g.48273777G>A Copied from the Exome Variant Server ABCA13_000058 1/12586 0/8448 1/4138
1 c.897+33G>A r.(=) p.(=) g.48273781G>A Copied from the Exome Variant Server ABCA13_000059 1/12596 1/8450 0/4146
1 c.898-16T>C r.(=) p.(=) g.48278822T>C Copied from the Exome Variant Server ABCA13_000060 6/11948 0/8208 6/3740
1 c.907G>A r.(?) p.(Asp303Asn) g.48278847G>A Copied from the Exome Variant Server ABCA13_000061 1/12128 0/8272 1/3856
1 c.914del r.(?) p.(Leu306Trpfs*98) g.48278854del Copied from the Exome Variant Server ABCA13_000062 20/11648 16/7928 4/3720
1 c.927G>T r.(?) p.(Met309Ile) g.48278867G>T Copied from the Exome Variant Server ABCA13_000063 8/12236 8/8302 0/3934
1 c.928G>C r.(?) p.(Val310Leu) g.48278868G>C Copied from the Exome Variant Server ABCA13_000064 1/12236 1/8302 0/3934
1 c.950C>T r.(?) p.(Thr317Ile) g.48278890C>T Copied from the Exome Variant Server ABCA13_000065 1/12348 1/8350 0/3998
1 c.976G>A r.(?) p.(Gly326Ser) g.48278916G>A Copied from the Exome Variant Server ABCA13_000066 5/12364 5/8352 0/4012
1 c.980A>G r.(?) p.(His327Arg) g.48278920A>G Copied from the Exome Variant Server ABCA13_000067 1/12382 0/8356 1/4026
1 c.1057_1058insGGTA r.(?) p.(Gln353Argfs*2) g.48278997_48278998insGGTA Copied from the Exome Variant Server ABCA13_000068 2/12040 2/8058 0/3982
1 c.1062+29C>G r.(=) p.(=) g.48279031C>G Copied from the Exome Variant Server ABCA13_000069 1/12490 0/8378 1/4112
1 c.1063-32T>G r.(=) p.(=) g.48280432T>G Copied from the Exome Variant Server ABCA13_000071 1/11864 1/8192 0/3672
1 c.1063-27C>T r.(=) p.(=) g.48280437C>T Copied from the Exome Variant Server ABCA13_000073 1/11886 1/8202 0/3684
1 c.1063-26T>C r.(=) p.(=) g.48280438T>C Copied from the Exome Variant Server ABCA13_000075 382/11886 2/8202 380/3684
1 c.1063-10G>A r.(=) p.(=) g.48280454G>A Copied from the Exome Variant Server ABCA13_000077 1033/11960 863/8218 170/3742
1 c.1107C>T r.(=) p.(=) g.48280508C>T Copied from the Exome Variant Server ABCA13_000079 30/12242 0/8302 30/3940
1 c.1114A>G r.(?) p.(Met372Val) g.48280515A>G Copied from the Exome Variant Server ABCA13_000070 1/12260 0/8312 1/3948
1 c.1132G>C r.(?) p.(Ala378Pro) g.48280533G>C Copied from the Exome Variant Server ABCA13_000072 7/12360 0/8354 7/4006
1 c.1146G>T r.(?) p.(Gln382His) g.48280547G>T Copied from the Exome Variant Server ABCA13_000074 1/12418 0/8372 1/4046
1 c.1150G>A r.(?) p.(Glu384Lys) g.48280551G>A Copied from the Exome Variant Server ABCA13_000076 1/12428 0/8382 1/4046
1 c.1157A>C r.(?) p.(Glu386Ala) g.48280558A>C Copied from the Exome Variant Server ABCA13_000078 7/12478 0/8398 7/4080
1 c.1162del r.(?) p.(Lys388Serfs*16) g.48280563del Copied from the Exome Variant Server ABCA13_000080 65/11958 44/8030 21/3928
1 c.1192A>C r.(?) p.(Thr398Pro) g.48280593A>C Copied from the Exome Variant Server ABCA13_000081 1/12530 0/8414 1/4116
1 c.1206G>A r.(=) p.(=) g.48280607G>A Copied from the Exome Variant Server ABCA13_000082 1/12506 0/8410 1/4096
1 c.1239A>T r.(?) p.(Lys413Asn) g.48280640A>T Copied from the Exome Variant Server ABCA13_000083 1/12424 1/8380 0/4044
1 c.1250C>T r.(?) p.(Thr417Ile) g.48280651C>T Copied from the Exome Variant Server ABCA13_000084 1/12398 1/8358 0/4040
1 c.1262+7C>T r.(=) p.(=) g.48280670C>T Copied from the Exome Variant Server ABCA13_000085 16/12330 16/8346 0/3984
1 c.1263-22_1263-19del r.(=) p.(=) g.48284151_48284154del Copied from the Exome Variant Server ABCA13_000086 4/11272 2/7786 2/3486
1 c.1263-5C>G r.spl? p.? g.48284168C>G Copied from the Exome Variant Server ABCA13_000087 73/11748 62/8136 11/3612
1 c.1269G>A r.(=) p.(=) g.48284179G>A Copied from the Exome Variant Server ABCA13_000088 8/11778 0/8140 8/3638
1 c.1274T>A r.(?) p.(Leu425Gln) g.48284184T>A Copied from the Exome Variant Server ABCA13_000089 265/11782 3/8146 262/3636
1 c.1312T>A r.(?) p.(Trp438Arg) g.48284222T>A Copied from the Exome Variant Server ABCA13_000090 2/11846 0/8170 2/3676
1 c.1344T>C r.(=) p.(=) g.48284254T>C Copied from the Exome Variant Server ABCA13_000091 51/11914 0/8198 51/3716
1 c.1370A>G r.(?) p.(Gln457Arg) g.48284280A>G Copied from the Exome Variant Server ABCA13_000092 1/11958 1/8210 0/3748
1 c.1390+38A>G r.(=) p.(=) g.48284338A>G Copied from the Exome Variant Server ABCA13_000093 1/11950 0/8210 1/3740
1 c.1390+44A>G r.(=) p.(=) g.48284344A>G Copied from the Exome Variant Server ABCA13_000094 416/11948 2/8210 414/3738
1 c.1391-33A>G r.(=) p.(=) g.48285076A>G Copied from the Exome Variant Server ABCA13_000095 2/11848 0/8182 2/3666
1 c.1391-30T>C r.(=) p.(=) g.48285079T>C Copied from the Exome Variant Server ABCA13_000096 4/11854 1/8186 3/3668
1 c.1435T>C r.(?) p.(Phe479Leu) g.48285153T>C Copied from the Exome Variant Server ABCA13_000097 1/11820 1/8168 0/3652
1 c.1449A>G r.(=) p.(=) g.48285167A>G Copied from the Exome Variant Server ABCA13_000098 168/11806 64/8158 104/3648
1 c.1474del r.(?) p.(Trp493Glyfs*3) g.48285192del Copied from the Exome Variant Server ABCA13_000099 2/11338 1/7824 1/3514
1 c.1491+45A>T r.(=) p.(=) g.48285254A>T Copied from the Exome Variant Server ABCA13_000100 1/11702 1/8122 0/3580
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8     Next › Last »