All transcript variants in gene ABCC3

Information The variants shown are described using the NM_001144070.1 transcript reference sequence.

176 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-35C>A r.(=) p.(=) g.48712263C>A Copied from the Exome Variant Server ABCC3_000001 49/9214 43/6260 6/2954
?/? c.39G>C r.(?) p.(Lys13Asn) g.48712336G>C Copied from the Exome Variant Server ABCC3_000002 46/11016 42/7426 4/3590
?/? c.46-38G>A r.(=) p.(=) g.48733155G>A Copied from the Exome Variant Server ABCC3_000003 1/13006 1/8600 0/4406
?/? c.46-35C>T r.(=) p.(=) g.48733158C>T Copied from the Exome Variant Server ABCC3_000004 1/13006 1/8600 0/4406
?/? c.46-6C>T r.(=) p.(=) g.48733187C>T Copied from the Exome Variant Server ABCC3_000005 54/13006 45/8600 9/4406
?/? c.53A>G r.(?) p.(Asn18Ser) g.48733200A>G Copied from the Exome Variant Server ABCC3_000006 1/13006 1/8600 0/4406
?/? c.62T>C r.(?) p.(Val21Ala) g.48733209T>C Copied from the Exome Variant Server ABCC3_000007 2/13006 0/8600 2/4406
?/? c.75C>T r.(=) p.(=) g.48733222C>T Copied from the Exome Variant Server ABCC3_000008 1/13006 0/8600 1/4406
?/? c.78G>A r.(=) p.(=) g.48733225G>A Copied from the Exome Variant Server ABCC3_000009 2/13006 2/8600 0/4406
?/? c.141C>T r.(=) p.(=) g.48733288C>T Copied from the Exome Variant Server ABCC3_000010 17/13006 13/8600 4/4406
?/? c.144C>T r.(=) p.(=) g.48733291C>T Copied from the Exome Variant Server ABCC3_000011 1/13006 1/8600 0/4406
?/? c.160C>A r.(?) p.(Leu54Ile) g.48733307C>A Copied from the Exome Variant Server ABCC3_000012 1/13006 1/8600 0/4406
?/? c.169C>T r.(?) p.(Arg57Trp) g.48733316C>T Copied from the Exome Variant Server ABCC3_000013 1/13006 1/8600 0/4406
?/? c.202C>T r.(?) p.(His68Tyr) g.48733349C>T Copied from the Exome Variant Server ABCC3_000014 92/13006 80/8600 12/4406
?/? c.205C>G r.(?) p.(Leu69Val) g.48733352C>G Copied from the Exome Variant Server ABCC3_000015 3/13006 0/8600 3/4406
?/? c.222+25C>T r.(=) p.(=) g.48733394C>T Copied from the Exome Variant Server ABCC3_000016 1/13006 1/8600 0/4406
?/? c.222+37G>A r.(=) p.(=) g.48733406G>A Copied from the Exome Variant Server ABCC3_000017 2/13006 2/8600 0/4406
?/? c.223-48T>C r.(=) p.(=) g.48734015T>C Copied from the Exome Variant Server ABCC3_000018 1/13006 1/8600 0/4406
?/? c.223-26G>A r.(=) p.(=) g.48734037G>A Copied from the Exome Variant Server ABCC3_000019 1/13006 1/8600 0/4406
?/? c.223-12C>T r.(=) p.(=) g.48734051C>T Copied from the Exome Variant Server ABCC3_000020 2/13006 2/8600 0/4406
?/? c.230G>A r.(?) p.(Gly77Asp) g.48734070G>A Copied from the Exome Variant Server ABCC3_000021 1/13006 1/8600 0/4406
?/? c.256G>T r.(?) p.(Ala86Ser) g.48734096G>T Copied from the Exome Variant Server ABCC3_000022 1/13006 0/8600 1/4406
?/? c.257C>T r.(?) p.(Ala86Val) g.48734097C>T Copied from the Exome Variant Server ABCC3_000023 3/13006 0/8600 3/4406
?/? c.295C>G r.(?) p.(Arg99Gly) g.48734135C>G Copied from the Exome Variant Server ABCC3_000024 1/13006 1/8600 0/4406
?/? c.296G>A r.(?) p.(Arg99Gln) g.48734136G>A Copied from the Exome Variant Server ABCC3_000025 159/13006 2/8600 157/4406
?/? c.304G>A r.(?) p.(Ala102Thr) g.48734144G>A Copied from the Exome Variant Server ABCC3_000026 2/13006 0/8600 2/4406
?/? c.305C>T r.(?) p.(Ala102Val) g.48734145C>T Copied from the Exome Variant Server ABCC3_000027 1/13006 1/8600 0/4406
?/? c.348+26G>T r.(=) p.(=) g.48734214G>T Copied from the Exome Variant Server ABCC3_000028 1/13006 0/8600 1/4406
?/? c.348+39T>A r.(=) p.(=) g.48734227T>A Copied from the Exome Variant Server ABCC3_000029 2/13004 2/8598 0/4406
?/? c.349-36G>A r.(=) p.(=) g.48734371G>A Copied from the Exome Variant Server ABCC3_000030 1/13006 1/8600 0/4406
?/? c.349-26C>T r.(=) p.(=) g.48734381C>T Copied from the Exome Variant Server ABCC3_000031 5/13006 1/8600 4/4406
?/? c.349-24G>T r.(=) p.(=) g.48734383G>T Copied from the Exome Variant Server ABCC3_000032 62/13006 0/8600 62/4406
?/? c.394C>T r.(?) p.(Gln132*) g.48734452C>T Copied from the Exome Variant Server ABCC3_000033 1/13006 0/8600 1/4406
?/? c.434T>C r.(?) p.(Val145Ala) g.48734492T>C Copied from the Exome Variant Server ABCC3_000034 11/13006 0/8600 11/4406
?/? c.458G>A r.(?) p.(Arg153His) g.48734516G>A Copied from the Exome Variant Server ABCC3_000035 4/13006 0/8600 4/4406
?/? c.486+50G>T r.(=) p.(=) g.48734594G>T Copied from the Exome Variant Server ABCC3_000036 1/13006 1/8600 0/4406
?/? c.514A>C r.(?) p.(Thr172Pro) g.48735470A>C Copied from the Exome Variant Server ABCC3_000037 1/13006 0/8600 1/4406
?/? c.595G>T r.(?) p.(Ala199Ser) g.48735551G>T Copied from the Exome Variant Server ABCC3_000038 2/13006 0/8600 2/4406
?/? c.606C>T r.(=) p.(=) g.48735562C>T Copied from the Exome Variant Server ABCC3_000039 1/13006 0/8600 1/4406
?/? c.607G>A r.(?) p.(Asp203Asn) g.48735563G>A Copied from the Exome Variant Server ABCC3_000040 1/13006 1/8600 0/4406
?/? c.612+10C>T r.(=) p.(=) g.48735578C>T Copied from the Exome Variant Server ABCC3_000041 1/13006 1/8600 0/4406
?/? c.612+18G>A r.(=) p.(=) g.48735586G>A Copied from the Exome Variant Server ABCC3_000042 144/13006 0/8600 144/4406
?/? c.612+22C>T r.(=) p.(=) g.48735590C>T Copied from the Exome Variant Server ABCC3_000043 2/13006 1/8600 1/4406
?/? c.612+52A>G r.(=) p.(=) g.48735620A>G Copied from the Exome Variant Server ABCC3_000044 1/7272 0/4618 1/2654
?/? c.613-40G>A r.(=) p.(=) g.48735756G>A Copied from the Exome Variant Server ABCC3_000045 1/13006 1/8600 0/4406
?/? c.613-23C>T r.(=) p.(=) g.48735773C>T Copied from the Exome Variant Server ABCC3_000046 1/13006 1/8600 0/4406
?/? c.613-22G>A r.(=) p.(=) g.48735774G>A Copied from the Exome Variant Server ABCC3_000047 3442/13006 2328/8600 1114/4406
?/? c.613-17A>G r.(=) p.(=) g.48735779A>G Copied from the Exome Variant Server ABCC3_000048 5/13006 5/8600 0/4406
?/? c.613-9G>A r.(=) p.(=) g.48735787G>A Copied from the Exome Variant Server ABCC3_000049 1/13006 0/8600 1/4406
?/? c.633C>T r.(=) p.(=) g.48735816C>T Copied from the Exome Variant Server ABCC3_000050 1/13006 0/8600 1/4406
?/? c.634G>A r.(?) p.(Ala212Thr) g.48735817G>A Copied from the Exome Variant Server ABCC3_000051 1/13006 1/8600 0/4406
?/? c.654G>A r.(=) p.(=) g.48735837G>A Copied from the Exome Variant Server ABCC3_000052 69/13006 0/8600 69/4406
?/? c.674+1G>A r.spl? p.? g.48735858G>A Copied from the Exome Variant Server ABCC3_000053 1/13006 1/8600 0/4406
?/? c.674+6T>C r.(=) p.(=) g.48735863T>C Copied from the Exome Variant Server ABCC3_000054 1/13006 0/8600 1/4406
?/? c.674+21G>A r.(=) p.(=) g.48735878G>A Copied from the Exome Variant Server ABCC3_000055 4/13006 4/8600 0/4406
?/? c.674+22C>T r.(=) p.(=) g.48735879C>T Copied from the Exome Variant Server ABCC3_000056 5/13006 0/8600 5/4406
?/? c.674+50del r.(=) p.(=) g.48735907del Copied from the Exome Variant Server ABCC3_000057 3/12514 3/8252 0/4262
?/? c.675-52G>C r.(=) p.(=) g.48736546G>C Copied from the Exome Variant Server ABCC3_000058 1/5734 0/3982 1/1752
?/? c.675-37T>G r.(=) p.(=) g.48736561T>G Copied from the Exome Variant Server ABCC3_000059 27/13006 0/8600 27/4406
?/? c.675-32G>A r.(=) p.(=) g.48736566G>A Copied from the Exome Variant Server ABCC3_000060 2/13006 2/8600 0/4406
?/? c.675-20C>T r.(=) p.(=) g.48736578C>T Copied from the Exome Variant Server ABCC3_000061 1/13006 1/8600 0/4406
?/? c.675-4C>G r.spl? p.? g.48736594C>G Copied from the Exome Variant Server ABCC3_000062 1/13006 1/8600 0/4406
?/? c.675G>A r.(=) p.(=) g.48736598G>A Copied from the Exome Variant Server ABCC3_000063 1/13006 0/8600 1/4406
?/? c.694C>T r.(?) p.(Arg232Trp) g.48736617C>T Copied from the Exome Variant Server ABCC3_000064 3/13006 3/8600 0/4406
?/? c.695G>A r.(?) p.(Arg232Gln) g.48736618G>A Copied from the Exome Variant Server ABCC3_000065 1/13006 0/8600 1/4406
?/? c.772G>A r.(?) p.(Glu258Lys) g.48736695G>A Copied from the Exome Variant Server ABCC3_000066 5/13006 5/8600 0/4406
?/? c.789G>A r.(=) p.(=) g.48736712G>A Copied from the Exome Variant Server ABCC3_000067 1/13006 0/8600 1/4406
?/? c.806+19C>G r.(=) p.(=) g.48736748C>G Copied from the Exome Variant Server ABCC3_000068 118/13006 101/8600 17/4406
?/? c.806+27C>T r.(=) p.(=) g.48736756C>T Copied from the Exome Variant Server ABCC3_000069 2/13006 0/8600 2/4406
?/? c.806+38G>A r.(=) p.(=) g.48736767G>A Copied from the Exome Variant Server ABCC3_000070 1/13006 0/8600 1/4406
?/? c.807-48A>C r.(=) p.(=) g.48738236A>C Copied from the Exome Variant Server ABCC3_000071 1/13004 0/8598 1/4406
?/? c.807-40_807-39insC r.(=) p.(=) g.48738244_48738245insC Copied from the Exome Variant Server ABCC3_000072 1/12514 0/8250 1/4264
?/? c.807-27C>T r.(=) p.(=) g.48738257C>T Copied from the Exome Variant Server ABCC3_000073 24/13006 0/8600 24/4406
?/? c.807-18C>T r.(=) p.(=) g.48738266C>T Copied from the Exome Variant Server ABCC3_000074 1118/13006 802/8600 316/4406
?/? c.807-10C>G r.(=) p.(=) g.48738274C>G Copied from the Exome Variant Server ABCC3_000075 1/13006 1/8600 0/4406
?/? c.814G>T r.(?) p.(Ala272Ser) g.48738291G>T Copied from the Exome Variant Server ABCC3_000076 1/13006 1/8600 0/4406
?/? c.843C>T r.(=) p.(=) g.48738320C>T Copied from the Exome Variant Server ABCC3_000077 1/13006 1/8600 0/4406
?/? c.852C>T r.(=) p.(=) g.48738329C>T Copied from the Exome Variant Server ABCC3_000078 1/13006 0/8600 1/4406
?/? c.853G>A r.(?) p.(Glu285Lys) g.48738330G>A Copied from the Exome Variant Server ABCC3_000079 7/13006 0/8600 7/4406
?/? c.871C>T r.(?) p.(Arg291Trp) g.48738348C>T Copied from the Exome Variant Server ABCC3_000080 3/13006 0/8600 3/4406
?/? c.876C>T r.(=) p.(=) g.48738353C>T Copied from the Exome Variant Server ABCC3_000081 1/13006 0/8600 1/4406
?/? c.921C>T r.(=) p.(=) g.48738398C>T Copied from the Exome Variant Server ABCC3_000082 1/13006 1/8600 0/4406
?/? c.922G>A r.(?) p.(Gly308Ser) g.48738399G>A Copied from the Exome Variant Server ABCC3_000083 2/13006 2/8600 0/4406
?/? c.941G>T r.(?) p.(Ser314Ile) g.48738418G>T Copied from the Exome Variant Server ABCC3_000084 9/13006 0/8600 9/4406
?/? c.980T>C r.(?) p.(Ile327Thr) g.48738457T>C Copied from the Exome Variant Server ABCC3_000085 2/13006 0/8600 2/4406
?/? c.998+16G>A r.(=) p.(=) g.48738491G>A Copied from the Exome Variant Server ABCC3_000086 650/13006 554/8600 96/4406
?/? c.998+41A>T r.(=) p.(=) g.48738516A>T Copied from the Exome Variant Server ABCC3_000087 2/13006 2/8600 0/4406
?/? c.999-17C>T r.(=) p.(=) g.48741025C>T Copied from the Exome Variant Server ABCC3_000088 2/13006 0/8600 2/4406
?/? c.1017C>T r.(=) p.(=) g.48741060C>T Copied from the Exome Variant Server ABCC3_000089 1/13006 0/8600 1/4406
?/? c.1034C>T r.(?) p.(Pro345Leu) g.48741077C>T Copied from the Exome Variant Server ABCC3_000090 1/13006 1/8600 0/4406
?/? c.1037C>T r.(?) p.(Ser346Phe) g.48741080C>T Copied from the Exome Variant Server ABCC3_000091 60/13006 60/8600 0/4406
?/? c.1046G>A r.(?) p.(Gly349Asp) g.48741089G>A Copied from the Exome Variant Server ABCC3_000092 1/13006 1/8600 0/4406
?/? c.1062G>A r.(=) p.(=) g.48741105G>A Copied from the Exome Variant Server ABCC3_000093 1/13006 0/8600 1/4406
?/? c.1068G>A r.(?) p.(Met356Ile) g.48741111G>A Copied from the Exome Variant Server ABCC3_000094 2/13006 0/8600 2/4406
?/? c.1128G>C r.(=) p.(=) g.48741171G>C Copied from the Exome Variant Server ABCC3_000095 2/13006 2/8600 0/4406
?/? c.1135G>T r.(?) p.(Val379Leu) g.48741178G>T Copied from the Exome Variant Server ABCC3_000096 2/13006 2/8600 0/4406
?/? c.1145G>C r.(?) p.(Arg382Pro) g.48741188G>C Copied from the Exome Variant Server ABCC3_000097 1/13006 0/8600 1/4406
?/? c.1157T>G r.(?) p.(Met386Arg) g.48741200T>G Copied from the Exome Variant Server ABCC3_000098 1/13006 0/8600 1/4406
?/? c.1176+44C>T r.(=) p.(=) g.48741263C>T Copied from the Exome Variant Server ABCC3_000100 1/13006 1/8600 0/4406
?/? c.1177-35C>T r.(=) p.(=) g.48741276C>T Copied from the Exome Variant Server ABCC3_000099 168/13006 7/8600 161/4406
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