All transcript variants in gene SMC1A

Information The variants shown are described using the NM_006306.2 transcript reference sequence.

94 entries on 1 page. Showing entries 1 - 94.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-19C>T r.(=) p.(=) g.53449568G>A Copied from the Exome Variant Server SMC1A_000094 4289/10563 3928/6728 361/3835
?/? c.-10C>T r.(=) p.(=) g.53449559G>A Copied from the Exome Variant Server SMC1A_000093 1/10563 1/6728 0/3835
?/? c.109+472G>T r.(=) p.(=) g.53448969C>A Copied from the Exome Variant Server SMC1A_000092 1/4525 1/3107 0/1418
?/? c.109+499C>T r.(=) p.(=) g.53448942G>A Copied from the Exome Variant Server SMC1A_000091 1/4525 1/3107 0/1418
?/? c.109+506C>T r.(=) p.(=) g.53448935G>A Copied from the Exome Variant Server SMC1A_000090 2/4525 0/3107 2/1418
?/? c.109+535C>T r.(=) p.(=) g.53448906G>A Copied from the Exome Variant Server SMC1A_000089 23/4525 0/3107 23/1418
?/? c.109+557C>T r.(=) p.(=) g.53448884G>A Copied from the Exome Variant Server SMC1A_000088 1/4524 0/3106 1/1418
?/? c.183G>A r.(=) p.(=) g.53442045C>T Copied from the Exome Variant Server SMC1A_000087 1/10563 1/6728 0/3835
?/? c.298+16C>T r.(=) p.(=) g.53441914G>A Copied from the Exome Variant Server SMC1A_000086 1/10563 1/6728 0/3835
?/? c.298+19A>G r.(=) p.(=) g.53441911T>C Copied from the Exome Variant Server SMC1A_000085 57/10563 1/6728 56/3835
?/? c.372G>C r.(?) p.(Leu124Phe) g.53441746C>G Copied from the Exome Variant Server SMC1A_000084 1/10563 1/6728 0/3835
?/? c.411+21T>C r.(=) p.(=) g.53441686A>G Copied from the Exome Variant Server SMC1A_000083 1/10563 0/6728 1/3835
?/? c.412-40G>T r.(=) p.(=) g.53440425C>A Copied from the Exome Variant Server SMC1A_000082 3/10561 2/6726 1/3835
?/? c.412-12G>T r.(=) p.(=) g.53440397C>A Copied from the Exome Variant Server SMC1A_000081 1/10563 0/6728 1/3835
?/? c.412-10C>T r.(=) p.(=) g.53440395G>A Copied from the Exome Variant Server SMC1A_000080 162/10563 2/6728 160/3835
?/? c.615+33G>A r.(=) p.(=) g.53440149C>T Copied from the Exome Variant Server SMC1A_000079 1/10563 0/6728 1/3835
?/? c.615+42G>A r.(=) p.(=) g.53440140C>T Copied from the Exome Variant Server SMC1A_000078 2/10563 1/6728 1/3835
?/? c.615+47_616-46insC r.spl? p.? g.53440134_53440135insG Copied from the Exome Variant Server SMC1A_000076 5/10205 5/6484 0/3721
?/? c.616-36C>T r.(=) p.(=) g.53440124G>A Copied from the Exome Variant Server SMC1A_000074 1/10563 0/6728 1/3835
?/? c.699G>A r.(=) p.(=) g.53440005C>T Copied from the Exome Variant Server SMC1A_000077 75/10563 0/6728 75/3835
?/? c.720G>A r.(=) p.(=) g.53439984C>T Copied from the Exome Variant Server SMC1A_000075 1/10563 0/6728 1/3835
?/? c.756C>T r.(=) p.(=) g.53439948G>A Copied from the Exome Variant Server SMC1A_000073 1/10563 1/6728 0/3835
?/? c.825G>A r.(=) p.(=) g.53439879C>T Copied from the Exome Variant Server SMC1A_000072 1/10563 0/6728 1/3835
?/? c.854+7G>A r.(=) p.(=) g.53439843C>T Copied from the Exome Variant Server SMC1A_000071 1/10563 1/6728 0/3835
?/? c.854+41G>A r.(=) p.(=) g.53439809C>T Copied from the Exome Variant Server SMC1A_000070 12/10563 0/6728 12/3835
?/? c.854+43G>A r.(=) p.(=) g.53439807C>T Copied from the Exome Variant Server SMC1A_000069 3/10563 0/6728 3/3835
?/? c.854+45C>T r.(=) p.(=) g.53439805G>A Copied from the Exome Variant Server SMC1A_000068 6/10563 0/6728 6/3835
?/? c.854+47G>A r.(=) p.(=) g.53439803C>T Copied from the Exome Variant Server SMC1A_000067 1/10563 1/6728 0/3835
?/? c.855-15C>T r.(=) p.(=) g.53439218G>A Copied from the Exome Variant Server SMC1A_000066 45/10563 0/6728 45/3835
?/? c.1030G>C r.(?) p.(Glu344Gln) g.53439028C>G Copied from the Exome Variant Server SMC1A_000065 1/10563 1/6728 0/3835
?/? c.1098G>A r.(=) p.(=) g.53438960C>T Copied from the Exome Variant Server SMC1A_000064 2/10563 1/6728 1/3835
?/? c.1173G>A r.(=) p.(=) g.53438792C>T Copied from the Exome Variant Server SMC1A_000063 2/10563 1/6728 1/3835
?/? c.1254+11G>C r.(=) p.(=) g.53438700C>G Copied from the Exome Variant Server SMC1A_000062 33/10563 1/6728 32/3835
?/? c.1254+16_1254+20del r.(=) p.(=) g.53438691_53438695del Copied from the Exome Variant Server SMC1A_000061 7/10205 3/6484 4/3721
?/? c.1255-36C>T r.(=) p.(=) g.53436470G>A Copied from the Exome Variant Server SMC1A_000060 1/10563 1/6728 0/3835
?/? c.1323C>T r.(=) p.(=) g.53436366G>A Copied from the Exome Variant Server SMC1A_000059 26/10563 0/6728 26/3835
?/? c.1337+9C>T r.(=) p.(=) g.53436343G>A Copied from the Exome Variant Server SMC1A_000058 1/10563 0/6728 1/3835
?/? c.1338-32C>A r.(=) p.(=) g.53436232G>T Copied from the Exome Variant Server SMC1A_000057 10144/10560 6336/6728 3808/3832
?/? c.1338-24C>T r.(=) p.(=) g.53436224G>A Copied from the Exome Variant Server SMC1A_000056 1/10561 0/6728 1/3833
?/? c.1338-12del r.(=) p.(=) g.53436212del Copied from the Exome Variant Server SMC1A_000055 1/10201 0/6482 1/3719
?/? c.1347A>C r.(=) p.(=) g.53436191T>G Copied from the Exome Variant Server SMC1A_000054 2/10563 2/6728 0/3835
?/? c.1389G>A r.(=) p.(=) g.53436149C>T Copied from the Exome Variant Server SMC1A_000053 1/10563 1/6728 0/3835
?/? c.1545+4A>C r.spl? p.? g.53435989T>G Copied from the Exome Variant Server SMC1A_000052 17/10563 0/6728 17/3835
?/? c.1545+7G>T r.(=) p.(=) g.53435986C>A Copied from the Exome Variant Server SMC1A_000051 1/10563 0/6728 1/3835
?/? c.1698G>A r.(=) p.(=) g.53432736C>T Copied from the Exome Variant Server SMC1A_000050 68/10563 0/6728 68/3835
?/? c.1788T>C r.(=) p.(=) g.53432548A>G Copied from the Exome Variant Server SMC1A_000049 1/10563 0/6728 1/3835
?/? c.1911+12C>G r.(=) p.(=) g.53432413G>C Copied from the Exome Variant Server SMC1A_000048 1/10563 1/6728 0/3835
?/? c.1911+42T>C r.(=) p.(=) g.53432383A>G Copied from the Exome Variant Server SMC1A_000047 2/10563 2/6728 0/3835
?/? c.1911+50A>G r.(=) p.(=) g.53432375T>C Copied from the Exome Variant Server SMC1A_000046 22/10563 20/6728 2/3835
?/? c.1912-15C>T r.(=) p.(=) g.53432338G>A Copied from the Exome Variant Server SMC1A_000045 1/10563 1/6728 0/3835
?/? c.1912-14C>T r.(=) p.(=) g.53432337G>A Copied from the Exome Variant Server SMC1A_000044 7/10563 0/6728 7/3835
?/? c.1938C>T r.(=) p.(=) g.53432297G>A Copied from the Exome Variant Server SMC1A_000043 1/10563 0/6728 1/3835
?/? c.1947A>G r.(=) p.(=) g.53432288T>C Copied from the Exome Variant Server SMC1A_000042 1/10563 1/6728 0/3835
?/? c.2197-5T>C r.spl? p.? g.53430830A>G Copied from the Exome Variant Server SMC1A_000041 33/10563 13/6728 20/3835
?/? c.2314-27G>A r.(=) p.(=) g.53430631C>T Copied from the Exome Variant Server SMC1A_000040 1/10562 0/6727 1/3835
?/? c.2563-23C>T r.(=) p.(=) g.53423560G>A Copied from the Exome Variant Server SMC1A_000039 1/10563 1/6728 0/3835
?/? c.2563-3C>T r.spl? p.? g.53423540G>A Copied from the Exome Variant Server SMC1A_000038 1/10563 1/6728 0/3835
?/? c.2635G>A r.(?) p.(Ala879Thr) g.53423465C>T Copied from the Exome Variant Server SMC1A_000037 1/10563 1/6728 0/3835
?/? c.2645C>T r.(?) p.(Ser882Leu) g.53423455G>A Copied from the Exome Variant Server SMC1A_000036 1/10563 0/6728 1/3835
?/? c.2705A>G r.(?) p.(Asn902Ser) g.53423395T>C Copied from the Exome Variant Server SMC1A_000035 1/10563 0/6728 1/3835
?/? c.2709-18C>T r.(=) p.(=) g.53423318G>A Copied from the Exome Variant Server SMC1A_000034 1/10563 1/6728 0/3835
?/? c.2748G>A r.(=) p.(=) g.53423261C>T Copied from the Exome Variant Server SMC1A_000033 1/10563 1/6728 0/3835
?/? c.2794G>T r.(?) p.(Ala932Ser) g.53423215C>A Copied from the Exome Variant Server SMC1A_000032 1/10563 0/6728 1/3835
?/? c.2824C>T r.(=) p.(=) g.53423185G>A Copied from the Exome Variant Server SMC1A_000031 3/10563 2/6728 1/3835
?/? c.2862+14C>T r.(=) p.(=) g.53423133G>A Copied from the Exome Variant Server SMC1A_000030 5/10563 0/6728 5/3835
?/? c.2862+20G>A r.(=) p.(=) g.53423127C>T Copied from the Exome Variant Server SMC1A_000029 5/10563 0/6728 5/3835
?/? c.2880G>A r.(=) p.(=) g.53421791C>T Copied from the Exome Variant Server SMC1A_000028 1/10563 0/6728 1/3835
?/? c.2973+16_2973+17del r.(=) p.(=) g.53421681_53421682del Copied from the Exome Variant Server SMC1A_000026 1/10205 0/6484 1/3721
?/? c.2973+39T>C r.(=) p.(=) g.53421659A>G Copied from the Exome Variant Server SMC1A_000024 1/10540 0/6707 1/3833
?/? c.2973+45G>A r.(=) p.(=) g.53421653C>T Copied from the Exome Variant Server SMC1A_000027 178/10226 167/6473 11/3753
?/? c.3130+31A>C r.(=) p.(=) g.53409987T>G Copied from the Exome Variant Server SMC1A_000025 1/10562 1/6727 0/3835
?/? c.3130+51G>A r.(=) p.(=) g.53409967C>T Copied from the Exome Variant Server SMC1A_000023 1/10562 1/6727 0/3835
?/? c.3131-43_3131-41del r.(=) p.(=) g.53409622_53409624del Copied from the Exome Variant Server SMC1A_000022 1/10205 0/6484 1/3721
?/? c.3177C>T r.(=) p.(=) g.53409535G>A Copied from the Exome Variant Server SMC1A_000021 1/10563 1/6728 0/3835
?/? c.3186C>G r.(?) p.(Ile1062Met) g.53409526G>C Copied from the Exome Variant Server SMC1A_000020 1/10563 1/6728 0/3835
?/? c.3267C>G r.(=) p.(=) g.53409445G>C Copied from the Exome Variant Server SMC1A_000019 1/10563 1/6728 0/3835
?/? c.3285+23A>G r.(=) p.(=) g.53409404T>C Copied from the Exome Variant Server SMC1A_000018 1/10562 1/6727 0/3835
?/? c.3286-28A>G r.(=) p.(=) g.53409332T>C Copied from the Exome Variant Server SMC1A_000017 1/10561 0/6727 1/3834
?/? c.3286-23C>G r.(=) p.(=) g.53409327G>C Copied from the Exome Variant Server SMC1A_000016 1/10562 1/6727 0/3835
?/? c.3390C>T r.(=) p.(=) g.53409200G>A Copied from the Exome Variant Server SMC1A_000015 1/10563 0/6728 1/3835
?/? c.3437+38G>A r.(=) p.(=) g.53409115C>T Copied from the Exome Variant Server SMC1A_000014 1/10561 1/6726 0/3835
?/? c.3438-43C>A r.(=) p.(=) g.53408051G>T Copied from the Exome Variant Server SMC1A_000013 1/10562 0/6727 1/3835
?/? c.3438-36G>A r.(=) p.(=) g.53408044C>T Copied from the Exome Variant Server SMC1A_000012 2/10563 2/6728 0/3835
?/? c.3450C>T r.(=) p.(=) g.53407996G>A Copied from the Exome Variant Server SMC1A_000011 10/10563 10/6728 0/3835
?/? c.3507+40A>G r.(=) p.(=) g.53407899T>C Copied from the Exome Variant Server SMC1A_000010 5/10563 5/6728 0/3835
?/? c.3507+44C>T r.(=) p.(=) g.53407895G>A Copied from the Exome Variant Server SMC1A_000009 1/10563 1/6728 0/3835
?/? c.3508-25A>G r.(=) p.(=) g.53407676T>C Copied from the Exome Variant Server SMC1A_000008 1/10563 0/6728 1/3835
?/? c.3570G>A r.(=) p.(=) g.53407589C>T Copied from the Exome Variant Server SMC1A_000007 1/10563 0/6728 1/3835
?/? c.3591C>T r.(=) p.(=) g.53407568G>A Copied from the Exome Variant Server SMC1A_000006 3/10563 3/6728 0/3835
?/? c.3619-35C>T r.(=) p.(=) g.53407142G>A Copied from the Exome Variant Server SMC1A_000005 1/10561 1/6726 0/3835
?/? c.3642A>C r.(?) p.(Lys1214Asn) g.53407084T>G Copied from the Exome Variant Server SMC1A_000004 1/10563 1/6728 0/3835
?/? c.*14C>T r.(=) p.(=) g.53407010G>A Copied from the Exome Variant Server SMC1A_000003 65/10563 57/6728 8/3835
?/? c.*28G>C r.(=) p.(=) g.53406996C>G Copied from the Exome Variant Server SMC1A_000002 1/10563 1/6728 0/3835
?/? c.*33C>G r.(=) p.(=) g.53406991G>C Copied from the Exome Variant Server SMC1A_000001 1/10563 1/6728 0/3835
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