Transcript #00005463

Transcript name collagen, type IV, alpha 3 (Goodpasture antigen)
Gene name COL4A3 (collagen, type IV, alpha 3 (Goodpasture antigen))
Chromosome 2
Transcript - NCBI ID NM_000091.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000082.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

783 entries on 8 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. 1 c.-26G>T VUS r.(?) p.(=)
-?/. 1 c.-10C>T - r.(?) p.(=)
+/. _1_1i c.(?_-1)_(87+1_88-1)del - r.0? p.0?
+/. _1_1i c.(?_-1)_(87+1_88-1)del VUS r.0? p.0?
+/. 14 c.? - r.805_828del p.Glu269_Ser276del
+/+? 1 c.1A>T - r.(?) p.0?
./. 1 c.2T>A VUS r.(?) p.0?
./. 1 c.2T>C - r.(?) p.0?
./. 1 c.2T>C VUS r.(?) p.0?
./. 1 c.2T>G VUS r.(?) p.0?
./. 1 c.3G>A - r.(?) p.0?
./. 1 c.19C>A - r.(?) p.(Pro7Thr)
./. 1 c.21C>A - r.(?) p.(Pro7=)
?/. 1 c.26C>T VUS r.(?) p.(Pro9Leu)
./. 1 c.40_63del VUS r.(?) p.(Leu14_Leu21del)
./. 1 c.40_63del - r.(?) p.(Leu14_Leu21del)
+/+? 1 c.40_63del - r.(?) p.(Leu14_Leu21del)
+/+? 1 c.40_63del - r.(?) p.(Leu14_Leu21del)
./. 1 c.40_63del VUS r.(?) p.(Leu14_Leu21del)
+/. 1 c.40_63del pathogenic r.(?) p.(Leu14_Leu21del)
+/. 1 c.40_63del pathogenic r.(?) p.(Leu14_Leu21del)
+/. 1 c.40_63del pathogenic r.(?) p.(Leu14_Leu21del)
+/. 1 c.40_63del pathogenic r.(?) p.(Leu14_Leu21del)
./. 1 c.40_66del - r.(?) p.(Leu14_Ala22del)
?/. 1 c.43_54del VUS r.(?) p.(Pro15_Leu18del)
+?/. 1 c.71C>G - r.(?) p.(Ala24Gly)
+?/. 1 c.73C>T - r.(?) p.(Pro25Ser)
-/. - c.88-4C>T benign r.spl? p.?
./. 1i_50i c.88-?_4755+?dup VUS r.? p.?
./. 2 c.96dup - r.(?) p.(Cys33Leufs*2)
./. 2 c.127G>A - r.(?) p.(Gly43Arg)
./. 2 c.127G>A - r.(?) p.(Gly43Arg)
./. 2 c.127G>A - r.(?) p.(Gly43Arg)
-/. - c.127G>C benign r.(?) p.(Gly43Arg)
./. 2 c.127G>C - r.(?) p.(Gly43Arg)
-/-? 2 c.127G>C - r.(?) p.(Gly43Arg)
-/-? 2 c.127G>C - r.(?) p.(Gly43Arg)
-/-? 2 c.127G>C - r.(?) p.(Gly43Arg)
-/. 2 c.127G>C benign r.(?) p.(Gly43Arg)
./. 2i c.144+12C>A - r.(?) p.(=)
./. 2i c.144+12C>A - r.(?) p.(=)
./. 2i c.144+12C>A - r.(?) p.(=)
-/. - c.144+12C>A benign r.(=) p.(=)
-/. - c.144+12C>A benign r.(=) p.(=)
-/. 2i c.144+12C>A benign r.(?) p.(=)
./. 3 c.145G>C VUS r.(?) p.(Gly49Arg)
./. 2i c.162-2A>G VUS exon 3 (90 bp) skip p.?
+/. 3 c.162dup - r.(?) p.(Gly55Trpfs*15)
./. 3 c.162dup - r.(?) p.(Gly55Trpfs*15)
./. 3 c.162dup - r.(?) p.(Gly55Trpfs*15)
./. 3 c.162dup - r.(?) p.(Gly55Trpfs*15)
+/. 3 c.172G>A - r.(?) p.(Gly58Ser)
./. 3 c.172G>C VUS r.(?) p.(Gly58Arg)
./. 3 c.222G>A - r.(?) p.(Pro74=)
-?/. - c.222G>T likely benign r.(=) p.(=)
./. 3 c.222G>T - r.(?) p.(=)
./. 3 c.222G>T - r.(?) p.(Pro74Pro)
+?/. 3 c.233A>G - r.(?) p.(Lys78Arg)
./. 4 c.261G>A - r.(?) p.(=)
./. 4 c.272G>T VUS r.(?) p.(Gly91Val)
+?/. 4i_8i c.(279+1_280-1)_(468+1_469-1)dup VUS r.? p.?
-?/. 5i c.324+73C>T - r.(?) p.(=)
-/. - c.325-27C>T benign r.(=) p.(=)
?/. 6 c.329C>T VUS r.(?) p.(Thr110Ile)
./. 6 c.345del VUS r.(?) p.Pro116Leufs*37
./. 6 c.345del VUS r.(?) p.(Pro116Leufs*37)
./. 6 c.346C>A - r.(?) p.(Pro116Thr)
./. 6 c.346C>A - r.(?) p.(Pro116Thr)
./. 6 c.346C>A - r.(?) p.(Pro116Thr)
./. 6 c.346C>A VUS r.(?) p.(Pro116Thr)
+/+ 6 c.351C>A - r.(?) p.(Tyr117*)
+/+? 6 c.351C>A - r.(?) p.(Tyr117*)
+/+? 7 c.390dup - r.(?) p.(Glu131*)
+/. 7 c.391G>T - r.(?) p.(Glu131*)
+/. 7 c.391G>T - r.(?) p.(Glu131*)
./. 7 c.393del VUS r.(?) p.(Glu131Aspfs*22)
./. 7 c.394C>T - r.(?) p.(Gln132*)
./. 7 c.399G>A - r.(?) p.(=)
./. 7 c.399G>A - r.(?) p.(Gly133=)
./. 7 c.400del - r.(?) p.(Pro135Glnfs*18)
+/. 7 c.415G>C - r.(?) p.(Gly139Arg)
./. 7 c.422C>T - r.(?) p.(Pro141Leu)
./. 7 c.422T>C - r.(?) p.(Leu141Pro)
-/. - c.422T>C benign r.(?) p.(Leu141Pro)
-/. - c.422T>C benign r.(?) p.(Leu141Pro)
-/-? 7 c.422T>C - r.(?) p.(Leu141Pro)
./. 7 c.422T>C VUS r.(?) p.(Leu141Pro)
./. 7 c.432_440delinsGATTA VUS r.(?) p.(Gly145Ilefs*7)
+?/. 7 c.434G>A - r.(?) p.(Gly145Glu)
./. 7 c.441G>A - r.(?) p.(=)
+/. 7i c.441+2T>C pathogenic r.spl p.?
./. 8 c.443G>T VUS r.(?) p.Gly148Val
./. 8 c.443G>T - r.(?) p.(Gly148Val)
./. 8 c.443G>T - r.(?) p.(Gly148Val)
+?/. 8 c.461G>C - r.(?) p.(Gly154Ala)
+/. 8_8i c.462_468+1del pathogenic r.spl p.?
-/. - c.469-53G>T benign r.(=) p.(=)
./. 9 c.473C>A - r.(?) p.(Ala158Asp)
./. 9 c.473C>A - r.(?) p.(Ala158Asp)
-?/. 9 c.485A>G likely benign r.(?) p.(Glu162Gly)
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8     Next › Last »