All variants in the ACAP3 gene

Information The variants shown are described using the NM_030649.2 transcript reference sequence.

373 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

GVS function     

Splice distance     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

Owner     
./. - c.-4360G>A -4360 r.(=) p.(=) - utr-5 - g.1247555C>T - ACAP3_000058 - - LOVD
./. - c.-4299A>G -4299 r.(=) p.(=) - utr-5 - g.1247494T>C - CPSF3L_000001 - - LOVD
./. - c.-4299A>G -4299 r.(=) p.(=) - utr-5 - g.1247494T>C - CPSF3L_000001 - - LOVD
./. - c.-4299A>G -4299 r.(=) p.(=) - utr-5 - g.1247494T>C - CPSF3L_000001 - - LOVD
./. - c.-4299A>G -4299 r.(=) p.(=) - utr-5 - g.1247494T>C - CPSF3L_000001 - - LOVD
./. - c.-4299A>G -4299 r.(=) p.(=) - utr-5 - g.1247494T>C - CPSF3L_000001 - - LOVD
./. - c.-4299A>G -4299 r.(=) p.(=) - utr-5 - g.1247494T>C - CPSF3L_000001 - - LOVD
./. - c.-4299A>G -4299 r.(=) p.(=) - utr-5 - g.1247494T>C - CPSF3L_000001 - - LOVD
./. - c.-4299A>G -4299 r.(=) p.(=) - utr-5 - g.1247494T>C - CPSF3L_000001 - - LOVD
./. - c.-4299A>G -4299 r.(=) p.(=) - utr-5 - g.1247494T>C - CPSF3L_000001 - - LOVD
./. - c.-4299A>G -4299 r.(=) p.(=) - utr-5 - g.1247494T>C - CPSF3L_000001 - - LOVD
./. - c.-4299A>G -4299 r.(=) p.(=) - utr-5 - g.1247494T>C - CPSF3L_000001 - - LOVD
./. - c.-4299A>G -4299 r.(=) p.(=) - utr-5 - g.1247494T>C - CPSF3L_000001 - - LOVD
./. - c.-4299A>G -4299 r.(=) p.(=) - utr-5 - g.1247494T>C - CPSF3L_000001 - - LOVD
./. - c.-4299A>G -4299 r.(=) p.(=) - utr-5 - g.1247494T>C - CPSF3L_000001 - - LOVD
./. - c.-4299A>G -4299 r.(=) p.(=) - utr-5 - g.1247494T>C - CPSF3L_000001 - - LOVD
./. - c.-4299A>G -4299 r.(=) p.(=) - utr-5 - g.1247494T>C - CPSF3L_000001 - - LOVD
./. - c.-4299A>G -4299 r.(=) p.(=) - utr-5 - g.1247494T>C - CPSF3L_000001 - - LOVD
./. - c.-4299A>G -4299 r.(=) p.(=) - utr-5 - g.1247494T>C - CPSF3L_000001 - - LOVD
./. - c.-3991del -3991 r.(=) p.(=) - utr-5 - g.1247186del - ACAP3_000057 - - LOVD
./. - c.-3991del -3991 r.(=) p.(=) - utr-5 - g.1247186del - ACAP3_000057 - - LOVD
./. - c.-3991del -3991 r.(=) p.(=) - utr-5 - g.1247186del - ACAP3_000057 - - LOVD
./. - c.-3636C>T -3636 r.(=) p.(=) - utr-5 - g.1246831G>A - ACAP3_000056 - - LOVD
./. - c.-3289A>G -3289 r.(=) p.(=) - utr-5 - g.1246484T>C - ACAP3_000055 - - LOVD
./. - c.-3243C>T -3243 r.(=) p.(=) - utr-5 - g.1246438G>A - ACAP3_000054 - - LOVD
./. - c.-3108C>T -3108 r.(=) p.(=) - utr-5 - g.1246303G>A - ACAP3_000053 - - LOVD
./. - c.-3108C>T -3108 r.(=) p.(=) - utr-5 - g.1246303G>A - ACAP3_000053 - - LOVD
./. - c.-3078_-3062del -3078 r.(=) p.(=) - utr-5 - g.1246257_1246273del - ACAP3_000052 - - LOVD
./. - c.-3078_-3062del -3078 r.(=) p.(=) - utr-5 - g.1246257_1246273del - ACAP3_000052 - - LOVD
./. - c.-2977_-2975del -2977 r.(=) p.(=) - utr-5 - g.1246170_1246172del - ACAP3_000051 - - LOVD
./. - c.-2977_-2975del -2977 r.(=) p.(=) - utr-5 - g.1246170_1246172del - ACAP3_000051 - - LOVD
./. - c.-2977_-2975del -2977 r.(=) p.(=) - utr-5 - g.1246170_1246172del - ACAP3_000051 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-2809T>C -2809 r.(=) p.(=) - utr-5 - g.1246004A>G - PUSL1_000002 - - LOVD
./. - c.-1981G>A -1981 r.(=) p.(=) - utr-5 - g.1245176C>T - ACAP3_000050 - - LOVD
./. - c.-1905G>A -1905 r.(=) p.(=) - utr-5 - g.1245100C>T - ACAP3_000049 - - LOVD
./. - c.-1518G>A -1518 r.(=) p.(=) - utr-5 - g.1244713C>T - ACAP3_000048 - - LOVD
./. - c.-1260G>A -1260 r.(=) p.(=) - utr-5 - g.1244455C>T - ACAP3_000047 - - LOVD
./. - c.-1260G>A -1260 r.(=) p.(=) - utr-5 - g.1244455C>T - ACAP3_000047 - - LOVD
./. - c.184C>T 184 r.(?) p.(Arg62Cys) - missense - g.1238583G>A - ACAP3_000046 - - LOVD
./. - c.225+50C>T 225 r.(=) p.(=) - intron 50 g.1238492G>A - ACAP3_000002 - - LOVD
./. - c.225+50C>T 225 r.(=) p.(=) - intron 50 g.1238492G>A - ACAP3_000002 - - LOVD
./. - c.225+50C>T 225 r.(=) p.(=) - intron 50 g.1238492G>A - ACAP3_000002 - - LOVD
./. - c.225+50C>T 225 r.(=) p.(=) - intron 50 g.1238492G>A - ACAP3_000002 - - LOVD
./. - c.225+50C>T 225 r.(=) p.(=) - intron 50 g.1238492G>A - ACAP3_000002 - - LOVD
./. - c.225+50C>T 225 r.(=) p.(=) - intron 50 g.1238492G>A - ACAP3_000002 - - LOVD
./. - c.225+50C>T 225 r.(=) p.(=) - intron 50 g.1238492G>A - ACAP3_000002 - - LOVD
./. - c.225+50C>T 225 r.(=) p.(=) - intron 50 g.1238492G>A - ACAP3_000002 - - LOVD
./. - c.225+50C>T 225 r.(=) p.(=) - intron 50 g.1238492G>A - ACAP3_000002 - - LOVD
./. - c.225+50C>T 225 r.(=) p.(=) - intron 50 g.1238492G>A - ACAP3_000002 - - LOVD
./. - c.664-19C>T 664 r.(=) p.(=) - intron 19 g.1235304G>A - ACAP3_000045 - - LOVD
./. - c.739-27delC 739 r.(=) p.(=) - intron 27 g.1234763del - ACAP3_000044 - - LOVD
./. - c.739-27delC 739 r.(=) p.(=) - intron 27 g.1234763del - ACAP3_000044 - - LOVD
./. - c.739-27delC 739 r.(=) p.(=) - intron 27 g.1234763del - ACAP3_000044 - - LOVD
./. - c.739-27delC 739 r.(=) p.(=) - intron 27 g.1234763del - ACAP3_000044 - - LOVD
./. - c.739-27delC 739 r.(=) p.(=) - intron 27 g.1234763del - ACAP3_000044 - - LOVD
./. - c.739-27delC 739 r.(=) p.(=) - intron 27 g.1234763del - ACAP3_000044 - - LOVD
./. - c.739-27delC 739 r.(=) p.(=) - intron 27 g.1234763del - ACAP3_000044 - - LOVD
./. - c.863+6A>G 863 r.(=) p.(=) - splice 6 g.1233941T>C - ACAP3_000043 - - LOVD
./. - c.863+6A>G 863 r.(=) p.(=) - splice 6 g.1233941T>C - ACAP3_000043 - - LOVD
./. - c.863+6A>G 863 r.(=) p.(=) - splice 6 g.1233941T>C - ACAP3_000043 - - LOVD
./. - c.863+6A>G 863 r.(=) p.(=) - splice 6 g.1233941T>C - ACAP3_000043 - - LOVD
./. - c.863+6A>G 863 r.(=) p.(=) - splice 6 g.1233941T>C - ACAP3_000043 - - LOVD
./. - c.863+6A>G 863 r.(=) p.(=) - splice 6 g.1233941T>C - ACAP3_000043 - - LOVD
./. - c.863+6A>G 863 r.(=) p.(=) - splice 6 g.1233941T>C - ACAP3_000043 - - LOVD
./. - c.863+6A>G 863 r.(=) p.(=) - splice 6 g.1233941T>C - ACAP3_000043 - - LOVD
./. - c.863+6A>G 863 r.(=) p.(=) - splice 6 g.1233941T>C - ACAP3_000043 - - LOVD
./. - c.863+6A>G 863 r.(=) p.(=) - splice 6 g.1233941T>C - ACAP3_000043 - - LOVD
./. - c.863+6A>G 863 r.(=) p.(=) - splice 6 g.1233941T>C - ACAP3_000043 - - LOVD
./. - c.863+6A>G 863 r.(=) p.(=) - splice 6 g.1233941T>C - ACAP3_000043 - - LOVD
./. - c.863+6A>G 863 r.(=) p.(=) - splice 6 g.1233941T>C - ACAP3_000043 - - LOVD
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