All transcript variants in gene ANKRD31

Information The variants shown are described using the NM_001164443.1 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.93G>T r.(=) p.(=) g.74532419C>A Copied from the Exome Variant Server ANKRD31_000076 19/4566 0/3182 19/1384
?/? c.105-30del r.(=) p.(=) g.74526490del Copied from the Exome Variant Server ANKRD31_000074 3275/6292 1566/4198 1709/2094
?/? c.123C>T r.(=) p.(=) g.74526442G>A Copied from the Exome Variant Server ANKRD31_000072 3/4566 2/3182 1/1384
?/? c.178+3G>A r.spl? p.? g.74526384C>T Copied from the Exome Variant Server ANKRD31_000086 9/4566 9/3182 0/1384
?/? c.181A>G r.(?) p.(Met61Val) g.74518181T>C Copied from the Exome Variant Server ANKRD31_000085 142/4566 0/3182 142/1384
?/? c.270C>T r.(=) p.(=) g.74518092G>A Copied from the Exome Variant Server ANKRD31_000084 1/4566 0/3182 1/1384
?/? c.289-60del r.(=) p.(=) g.74506750del Copied from the Exome Variant Server ANKRD31_000083 4/5342 1/3626 3/1716
?/? c.289-9del r.(=) p.(=) g.74506699del Copied from the Exome Variant Server ANKRD31_000082 75/5474 49/3736 26/1738
?/? c.326+33G>T r.(=) p.(=) g.74506620C>A Copied from the Exome Variant Server ANKRD31_000081 3/4562 3/3178 0/1384
?/? c.404-5_404-4insT r.spl? p.? g.74495503_74495504insA Copied from the Exome Variant Server ANKRD31_000080 7/5668 2/3818 5/1850
?/? c.517A>G r.(?) p.(Thr173Ala) g.74491956T>C Copied from the Exome Variant Server ANKRD31_000079 254/4566 37/3182 217/1384
?/? c.575A>T r.(?) p.(Asn192Ile) g.74491898T>A Copied from the Exome Variant Server ANKRD31_000078 67/4566 1/3182 66/1384
?/? c.612C>A r.(=) p.(=) g.74491861G>T Copied from the Exome Variant Server ANKRD31_000077 1/4566 1/3182 0/1384
?/? c.633G>T r.(?) p.(Lys211Asn) g.74491840C>A Copied from the Exome Variant Server ANKRD31_000075 3/4566 2/3182 1/1384
?/? c.686C>T r.(?) p.(Thr229Ile) g.74491787G>A Copied from the Exome Variant Server ANKRD31_000073 4/4566 0/3182 4/1384
?/? c.755_757del r.(?) p.(Met252del) g.74491716_74491718del Copied from the Exome Variant Server ANKRD31_000071 3258/6456 1573/4362 1685/2094
?/? c.918C>T r.(=) p.(=) g.74491555G>A Copied from the Exome Variant Server ANKRD31_000070 4/4566 0/3182 4/1384
?/? c.935G>A r.(?) p.(Ser312Asn) g.74491538C>T Copied from the Exome Variant Server ANKRD31_000069 1/4566 1/3182 0/1384
?/? c.981G>A r.(=) p.(=) g.74491492C>T Copied from the Exome Variant Server ANKRD31_000068 113/4566 107/3182 6/1384
?/? c.1005A>G r.(=) p.(=) g.74491468T>C Copied from the Exome Variant Server ANKRD31_000067 8/4566 0/3182 8/1384
?/? c.1017+33A>G r.(=) p.(=) g.74491423T>C Copied from the Exome Variant Server ANKRD31_000066 2/4566 0/3182 2/1384
?/? c.1226C>T r.(?) p.(Pro409Leu) g.74489208G>A Copied from the Exome Variant Server ANKRD31_000065 1/4566 1/3182 0/1384
?/? c.1256G>A r.(?) p.(Cys419Tyr) g.74489178C>T Copied from the Exome Variant Server ANKRD31_000064 1/4566 1/3182 0/1384
?/? c.1261G>A r.(?) p.(Asp421Asn) g.74489173C>T Copied from the Exome Variant Server ANKRD31_000063 1/4566 0/3182 1/1384
?/? c.1310C>T r.(?) p.(Pro437Leu) g.74488590G>A Copied from the Exome Variant Server ANKRD31_000062 239/4566 58/3182 181/1384
?/? c.1377C>T r.(=) p.(=) g.74488523G>A Copied from the Exome Variant Server ANKRD31_000061 1/4566 1/3182 0/1384
?/? c.1450C>T r.(?) p.(Arg484Trp) g.74484432G>A Copied from the Exome Variant Server ANKRD31_000060 6/4566 0/3182 6/1384
?/? c.1521T>C r.(=) p.(=) g.74484361A>G Copied from the Exome Variant Server ANKRD31_000059 1/4566 0/3182 1/1384
?/? c.1525A>G r.(?) p.(Ile509Val) g.74484357T>C Copied from the Exome Variant Server ANKRD31_000058 1/4566 1/3182 0/1384
?/? c.1542T>G r.(?) p.(Asn514Lys) g.74484340A>C Copied from the Exome Variant Server ANKRD31_000057 2/4566 0/3182 2/1384
?/? c.1553C>T r.(?) p.(Pro518Leu) g.74484329G>A Copied from the Exome Variant Server ANKRD31_000056 4/4566 0/3182 4/1384
?/? c.1564+14A>G r.(=) p.(=) g.74484304T>C Copied from the Exome Variant Server ANKRD31_000055 5/4566 5/3182 0/1384
?/? c.1564+43G>A r.(=) p.(=) g.74484275C>T Copied from the Exome Variant Server ANKRD31_000054 2325/4566 1199/3182 1126/1384
?/? c.1647T>C r.(=) p.(=) g.74464864A>G Copied from the Exome Variant Server ANKRD31_000053 196/4566 41/3182 155/1384
?/? c.1664A>G r.(?) p.(Gln555Arg) g.74464847T>C Copied from the Exome Variant Server ANKRD31_000052 1/4566 1/3182 0/1384
?/? c.1669A>G r.(?) p.(Thr557Ala) g.74464842T>C Copied from the Exome Variant Server ANKRD31_000051 8/4566 8/3182 0/1384
?/? c.1694A>G r.(?) p.(Asn565Ser) g.74464817T>C Copied from the Exome Variant Server ANKRD31_000050 7/4566 6/3182 1/1384
?/? c.1707+1G>A r.spl? p.? g.74464803C>T Copied from the Exome Variant Server ANKRD31_000049 1/4566 0/3182 1/1384
?/? c.1707+9A>G r.(=) p.(=) g.74464795T>C Copied from the Exome Variant Server ANKRD31_000048 1/4566 1/3182 0/1384
?/? c.1805G>A r.(?) p.(Arg602His) g.74450073C>T Copied from the Exome Variant Server ANKRD31_000046 6/4566 1/3182 5/1384
?/? c.1852+9A>T r.(=) p.(=) g.74450017T>A Copied from the Exome Variant Server ANKRD31_000045 5/4566 0/3182 5/1384
?/? c.1858A>C r.(=) p.(=) g.74444448T>G Copied from the Exome Variant Server ANKRD31_000043 1/4566 1/3182 0/1384
?/? c.1905+39G>A r.(=) p.(=) g.74444362C>T Copied from the Exome Variant Server ANKRD31_000041 391/4564 38/3180 353/1384
?/? c.1906-7_1906-6insT r.(=) p.(=) g.74443336_74443337insA Copied from the Exome Variant Server ANKRD31_000039 18/5378 15/3662 3/1716
?/? c.1927del r.(?) p.(Ser643Valfs*19) g.74443309del Copied from the Exome Variant Server ANKRD31_000036 4/5570 2/3788 2/1782
?/? c.2104G>A r.(?) p.(Asp702Asn) g.74443132C>T Copied from the Exome Variant Server ANKRD31_000034 2338/4566 1198/3182 1140/1384
?/? c.2115C>T r.(=) p.(=) g.74443121G>A Copied from the Exome Variant Server ANKRD31_000032 14/4566 0/3182 14/1384
?/? c.2148C>T r.(=) p.(=) g.74443088G>A Copied from the Exome Variant Server ANKRD31_000030 2/4566 2/3182 0/1384
?/? c.2272A>G r.(?) p.(Arg758Gly) g.74442964T>C Copied from the Exome Variant Server ANKRD31_000028 708/4566 382/3182 326/1384
?/? c.2316T>C r.(=) p.(=) g.74442920A>G Copied from the Exome Variant Server ANKRD31_000026 2339/4566 1199/3182 1140/1384
?/? c.2461G>A r.(?) p.(Val821Ile) g.74442775C>T Copied from the Exome Variant Server ANKRD31_000024 4/4566 0/3182 4/1384
?/? c.2466A>G r.(=) p.(=) g.74442770T>C Copied from the Exome Variant Server ANKRD31_000022 2/4566 2/3182 0/1384
?/? c.2698_2700del r.(?) p.(Asn900del) g.74442536_74442538del Copied from the Exome Variant Server ANKRD31_000020 14/5924 6/3960 8/1964
?/? c.2769del r.(?) p.(Gly924Alafs*11) g.74442467del Copied from the Exome Variant Server ANKRD31_000047 2/5714 0/3856 2/1858
?/? c.3035G>A r.(?) p.(Cys1012Tyr) g.74442201C>T Copied from the Exome Variant Server ANKRD31_000044 1/4566 1/3182 0/1384
?/? c.3086A>G r.(?) p.(Glu1029Gly) g.74442150T>C Copied from the Exome Variant Server ANKRD31_000042 19/4566 0/3182 19/1384
?/? c.3563-18_3563-17insTT r.(=) p.(=) g.74433840_74433841insAA Copied from the Exome Variant Server ANKRD31_000040 246/5358 89/3654 157/1704
?/? c.3563-17del r.(=) p.(=) g.74433840del Copied from the Exome Variant Server ANKRD31_000038 101/5358 92/3654 9/1704
?/? c.3563-17dup r.(=) p.(=) g.74433840dup Copied from the Exome Variant Server ANKRD31_000037 2384/5358 1288/3654 1096/1704
?/? c.3900T>C r.(=) p.(=) g.74412475A>G Copied from the Exome Variant Server ANKRD31_000035 7/4564 0/3180 7/1384
?/? c.3964T>C r.(?) p.(Ser1322Pro) g.74412411A>G Copied from the Exome Variant Server ANKRD31_000033 1/4566 1/3182 0/1384
?/? c.4072+7A>G r.(=) p.(=) g.74408331T>C Copied from the Exome Variant Server ANKRD31_000031 1/4564 1/3180 0/1384
?/? c.4169+23del r.(=) p.(=) g.74403323del Copied from the Exome Variant Server ANKRD31_000029 373/5562 107/3758 266/1804
?/? c.4263_4264insA r.(?) p.(Gln1422Thrfs*12) g.74400949_74400950insT Copied from the Exome Variant Server ANKRD31_000027 4/5666 2/3844 2/1822
?/? c.4577G>A r.(?) p.(Cys1526Tyr) g.74400636C>T Copied from the Exome Variant Server ANKRD31_000025 3/4566 0/3182 3/1384
?/? c.4600T>C r.(?) p.(Ser1534Pro) g.74400613A>G Copied from the Exome Variant Server ANKRD31_000023 22/4566 0/3182 22/1384
?/? c.4697C>G r.(?) p.(Thr1566Arg) g.74400516G>C Copied from the Exome Variant Server ANKRD31_000021 671/4566 546/3182 125/1384
?/? c.4708G>A r.(?) p.(Asp1570Asn) g.74400505C>T Copied from the Exome Variant Server ANKRD31_000019 188/4566 0/3182 188/1384
?/? c.4747G>A r.(?) p.(Gly1583Ser) g.74400466C>T Copied from the Exome Variant Server ANKRD31_000017 19/4566 0/3182 19/1384
?/? c.4813A>G r.(?) p.(Ile1605Val) g.74400400T>C Copied from the Exome Variant Server ANKRD31_000015 3/4566 2/3182 1/1384
?/? c.4827C>G r.(?) p.(Asp1609Glu) g.74400386G>C Copied from the Exome Variant Server ANKRD31_000013 614/4566 508/3182 106/1384
?/? c.4835A>G r.(?) p.(Asn1612Ser) g.74400378T>C Copied from the Exome Variant Server ANKRD31_000011 8/4566 0/3182 8/1384
?/? c.4923T>C r.(=) p.(=) g.74400290A>G Copied from the Exome Variant Server ANKRD31_000008 1/4566 1/3182 0/1384
?/? c.4925T>C r.(?) p.(Val1642Ala) g.74400288A>G Copied from the Exome Variant Server ANKRD31_000006 1/4566 1/3182 0/1384
?/? c.4948C>T r.(?) p.(Gln1650*) g.74400265G>A Copied from the Exome Variant Server ANKRD31_000004 1/4566 0/3182 1/1384
?/? c.5016T>C r.(=) p.(=) g.74400197A>G Copied from the Exome Variant Server ANKRD31_000003 5/4566 4/3182 1/1384
?/? c.5301+5G>A r.spl? p.? g.74387081C>T Copied from the Exome Variant Server ANKRD31_000002 45/4566 3/3182 42/1384
?/? c.5307G>A r.(=) p.(=) g.74380194C>T Copied from the Exome Variant Server ANKRD31_000001 1/4566 0/3182 1/1384
?/? c.5331G>A r.(=) p.(=) g.74380170C>T Copied from the Exome Variant Server ANKRD31_000018 2/4566 0/3182 2/1384
?/? c.5404+3A>G r.spl? p.? g.74380094T>C Copied from the Exome Variant Server ANKRD31_000016 4/4566 4/3182 0/1384
?/? c.5405-19C>T r.(=) p.(=) g.74376483G>A Copied from the Exome Variant Server ANKRD31_000014 1/4566 0/3182 1/1384
?/? c.5405-18G>A r.(=) p.(=) g.74376482C>T Copied from the Exome Variant Server ANKRD31_000012 8/4564 8/3180 0/1384
?/? c.5476+12del r.(=) p.(=) g.74376381del Copied from the Exome Variant Server ANKRD31_000010 210/5334 142/3618 68/1716
?/? c.5476+12dup r.(=) p.(=) g.74376381dup Copied from the Exome Variant Server ANKRD31_000009 17/5334 13/3618 4/1716
?/? c.5476+36_5476+38del r.(=) p.(=) g.74376355_74376357del Copied from the Exome Variant Server ANKRD31_000007 21/5374 7/3640 14/1734
?/? c.5562A>G r.(=) p.(=) g.74364404T>C Copied from the Exome Variant Server ANKRD31_000005 3/4566 0/3182 3/1384
Legend