All transcript variants in gene CHODL

Information The variants shown are described using the NM_024944.2 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.80-46T>C r.(=) p.(=) g.19628780T>C Copied from the Exome Variant Server CHODL_000001 516/12514 2/8362 514/4152
?/? c.80-38C>A r.(=) p.(=) g.19628788C>A Copied from the Exome Variant Server CHODL_000002 532/12588 2/8418 530/4170
?/? c.80-18_80-15del r.(=) p.(=) g.19628808_19628811del Copied from the Exome Variant Server CHODL_000003 78/12386 1/8204 77/4182
?/? c.80-17del r.(=) p.(=) g.19628809del Copied from the Exome Variant Server CHODL_000004 38/12392 16/8204 22/4188
?/? c.80-17_80-16del r.(=) p.(=) g.19628809_19628810del Copied from the Exome Variant Server CHODL_000005 104/12392 4/8204 100/4188
?/? c.80-17_80-15del r.(=) p.(=) g.19628809_19628811del Copied from the Exome Variant Server CHODL_000014 506/12392 7/8204 499/4188
?/? c.127G>A r.(?) p.(Ala43Thr) g.19628873G>A Copied from the Exome Variant Server CHODL_000032 1/13006 0/8600 1/4406
?/? c.155T>A r.(?) p.(Val52Glu) g.19628901T>A Copied from the Exome Variant Server CHODL_000033 1/13006 0/8600 1/4406
?/? c.172C>T r.(?) p.(Arg58Cys) g.19628918C>T Copied from the Exome Variant Server CHODL_000034 3/13006 1/8600 2/4406
?/? c.237A>G r.(=) p.(=) g.19628983A>G Copied from the Exome Variant Server CHODL_000035 1/13006 0/8600 1/4406
?/? c.240A>G r.(?) p.(Ile80Met) g.19628986A>G Copied from the Exome Variant Server CHODL_000036 1/13006 0/8600 1/4406
?/? c.248T>C r.(?) p.(Met83Thr) g.19628994T>C Copied from the Exome Variant Server CHODL_000037 1/13006 0/8600 1/4406
?/? c.250T>C r.(=) p.(=) g.19628996T>C Copied from the Exome Variant Server CHODL_000038 1/13006 1/8600 0/4406
?/? c.270C>T r.(=) p.(=) g.19629016C>T Copied from the Exome Variant Server CHODL_000039 134/13006 2/8600 132/4406
?/? c.271G>A r.(?) p.(Gly91Arg) g.19629017G>A Copied from the Exome Variant Server CHODL_000040 1/13006 0/8600 1/4406
?/? c.288T>C r.(=) p.(=) g.19629034T>C Copied from the Exome Variant Server CHODL_000041 3/13006 0/8600 3/4406
?/? c.326G>A r.(?) p.(Gly109Glu) g.19629072G>A Copied from the Exome Variant Server CHODL_000042 1/13006 0/8600 1/4406
?/? c.342C>T r.(=) p.(=) g.19629088C>T Copied from the Exome Variant Server CHODL_000043 1/13006 1/8600 0/4406
?/? c.369T>C r.(=) p.(=) g.19629115T>C Copied from the Exome Variant Server CHODL_000044 1/13006 1/8600 0/4406
?/? c.389G>A r.(?) p.(Arg130Gln) g.19629135G>A Copied from the Exome Variant Server CHODL_000045 1/13006 1/8600 0/4406
?/? c.389+18G>A r.(=) p.(=) g.19629153G>A Copied from the Exome Variant Server CHODL_000046 1/13006 0/8600 1/4406
?/? c.389+22T>C r.(=) p.(=) g.19629157T>C Copied from the Exome Variant Server CHODL_000047 1/13006 0/8600 1/4406
?/? c.389+25G>A r.(=) p.(=) g.19629160G>A Copied from the Exome Variant Server CHODL_000048 677/13006 1/8600 676/4406
?/? c.390-30C>T r.(=) p.(=) g.19629257C>T Copied from the Exome Variant Server CHODL_000006 427/13006 387/8600 40/4406
?/? c.409C>G r.(?) p.(Pro137Ala) g.19629306C>G Copied from the Exome Variant Server CHODL_000007 1/13006 0/8600 1/4406
?/? c.417C>T r.(=) p.(=) g.19629314C>T Copied from the Exome Variant Server CHODL_000008 2/13006 2/8600 0/4406
?/? c.450A>G r.(=) p.(=) g.19629347A>G Copied from the Exome Variant Server CHODL_000009 1/13006 1/8600 0/4406
?/? c.458C>T r.(?) p.(Ala153Val) g.19629355C>T Copied from the Exome Variant Server CHODL_000010 1/13006 0/8600 1/4406
?/? c.474G>A r.(=) p.(=) g.19629371G>A Copied from the Exome Variant Server CHODL_000011 2/13006 2/8600 0/4406
?/? c.498T>A r.(?) p.(Asn166Lys) g.19629395T>A Copied from the Exome Variant Server CHODL_000012 1/13006 1/8600 0/4406
?/? c.529A>G r.(?) p.(Ile177Val) g.19629426A>G Copied from the Exome Variant Server CHODL_000013 1/13006 0/8600 1/4406
?/? c.534C>A r.(?) p.(Cys178*) g.19629431C>A Copied from the Exome Variant Server CHODL_000015 1/13006 0/8600 1/4406
?/? c.548-29T>C r.(=) p.(=) g.19632488T>C Copied from the Exome Variant Server CHODL_000016 1/12998 1/8598 0/4400
?/? c.560C>G r.(?) p.(Thr187Arg) g.19632529C>G Copied from the Exome Variant Server CHODL_000017 1/13006 1/8600 0/4406
?/? c.598G>A r.(?) p.(Gly200Arg) g.19632567G>A Copied from the Exome Variant Server CHODL_000018 1/13006 1/8600 0/4406
?/? c.601G>A r.(?) p.(Asp201Asn) g.19632570G>A Copied from the Exome Variant Server CHODL_000019 1/13006 1/8600 0/4406
?/? c.630A>G r.(=) p.(=) g.19632599A>G Copied from the Exome Variant Server CHODL_000020 1/13006 1/8600 0/4406
?/? c.634+15T>C r.(=) p.(=) g.19632618T>C Copied from the Exome Variant Server CHODL_000021 1/13006 0/8600 1/4406
?/? c.634+54C>T r.(=) p.(=) g.19632657C>T Copied from the Exome Variant Server CHODL_000022 11/4566 1/3182 10/1384
?/? c.635-43T>A r.(=) p.(=) g.19635065T>A Copied from the Exome Variant Server CHODL_000023 3/12996 0/8592 3/4404
?/? c.635-24C>T r.(=) p.(=) g.19635084C>T Copied from the Exome Variant Server CHODL_000024 1/13000 1/8594 0/4406
?/? c.643C>G r.(?) p.(Pro215Ala) g.19635116C>G Copied from the Exome Variant Server CHODL_000025 184/13000 0/8594 184/4406
?/? c.691A>T r.(?) p.(Ile231Leu) g.19635164A>T Copied from the Exome Variant Server CHODL_000026 7/13000 0/8594 7/4406
?/? c.738-48T>G r.(=) p.(=) g.19638223T>G Copied from the Exome Variant Server CHODL_000027 50/12998 47/8594 3/4404
?/? c.738-19T>A r.(=) p.(=) g.19638252T>A Copied from the Exome Variant Server CHODL_000028 2/13002 2/8596 0/4406
?/? c.773C>T r.(?) p.(Thr258Ile) g.19638306C>T Copied from the Exome Variant Server CHODL_000029 1/13006 1/8600 0/4406
?/? c.794C>G r.(?) p.(Thr265Ser) g.19638327C>G Copied from the Exome Variant Server CHODL_000030 1/13006 0/8600 1/4406
?/? c.*4del r.(=) p.(=) g.19638359del Copied from the Exome Variant Server CHODL_000031 1/12518 0/8254 1/4264
?/? c.*18T>C r.(=) p.(=) g.19638373T>C Copied from the Exome Variant Server CHODL_000049 6/13006 6/8600 0/4406
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