Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.49131140A>C | CA352748537 | LAMB2 | c.725T>G (p.Ile242Ser) c.278T>G (p.Ile93Ser) | |
3 | g.49131140A>G | CA352748539 | LAMB2 | c.725T>C (p.Ile242Thr) c.278T>C (p.Ile93Thr) | |
3 | g.49131140A>T | CA352748545 | LAMB2 | c.725T>A (p.Ile242Asn) c.278T>A (p.Ile93Asn) | |
3 | g.49131141T>A | CA352748549 | LAMB2 | c.724A>T (p.Ile242Phe) c.277A>T (p.Ile93Phe) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.49131141T>C | CA352748547 | LAMB2 | c.724A>G (p.Ile242Val) c.277A>G (p.Ile93Val) | |
3 | g.49131141T>G | CA352748546 | LAMB2 | c.724A>C (p.Ile242Leu) c.277A>C (p.Ile93Leu) | |
3 | g.49131141T= | CA1363342850 | LAMB2 | c.724A= (p.Ile242=) c.277A= (p.Ile93=) | |
3 | g.49131142C>A | CA352748557 | LAMB2 | c.723G>T (p.Lys241Asn) c.276G>T (p.Lys92Asn) | dbSNP |
3 | g.49131142C= | CA1363342851 | LAMB2 | c.723G= (p.Lys241=) c.276G= (p.Lys92=) | |
3 | g.49131142C>G | CA352748560 | LAMB2 | c.723G>C (p.Lys241Asn) c.276G>C (p.Lys92Asn) | |
3 | g.49131142C>T | CA433834922 | LAMB2 | c.723G>A (p.Lys241=) c.276G>A (p.Lys92=) | dbSNP |
3 | g.49131143T>A | CA352748567 | LAMB2 | c.722A>T (p.Lys241Met) c.275A>T (p.Lys92Met) | |
3 | g.49131143T>C | CA352748568 | LAMB2 | c.722A>G (p.Lys241Arg) c.275A>G (p.Lys92Arg) | |
3 | g.49131143T>G | CA352748573 | LAMB2 | c.722A>C (p.Lys241Thr) c.275A>C (p.Lys92Thr) | |
3 | g.49131144T>A | CA352748580 | LAMB2 | c.721A>T (p.Lys241Ter) c.274A>T (p.Lys92Ter) | |
3 | g.49131144T>C | CA352748595 | LAMB2 | c.721A>G (p.Lys241Glu) c.274A>G (p.Lys92Glu) | |
3 | g.49131144T>G | CA352748601 | LAMB2 | c.721A>C (p.Lys241Gln) c.274A>C (p.Lys92Gln) | |
3 | g.49131145C>A | CA352748607 | LAMB2 | c.720G>T (p.Leu240Phe) c.273G>T (p.Leu91Phe) | |
3 | g.49131145C>G | CA352748609 | LAMB2 | c.720G>C (p.Leu240Phe) c.273G>C (p.Leu91Phe) | |
3 | g.49131145C>T | CA433834924 | LAMB2 | c.720G>A (p.Leu240=) c.273G>A (p.Leu91=) | |
3 | g.49131146A= | CA1363342852 | LAMB2 | c.719T= (p.Leu240=) c.272T= (p.Leu91=) | |
3 | g.49131146A>C | CA352748614 | LAMB2 | c.719T>G (p.Leu240Trp) c.272T>G (p.Leu91Trp) | |
3 | g.49131146A>G | CA352748617 | LAMB2 | c.719T>C (p.Leu240Ser) c.272T>C (p.Leu91Ser) | dbSNP |
3 | g.49131146A>T | CA352748623 | LAMB2 | c.719T>A (p.Leu240Ter) c.272T>A (p.Leu91Ter) | |
3 | g.49131147A>C | CA352748634 | LAMB2 | c.718T>G (p.Leu240Val) c.271T>G (p.Leu91Val) | |
3 | g.49131147A>G | CA433834925 | LAMB2 | c.718T>C (p.Leu240=) c.271T>C (p.Leu91=) | |
3 | g.49131147A>T | CA352748629 | LAMB2 | c.718T>A (p.Leu240Met) c.271T>A (p.Leu91Met) | |
3 | g.49131148C>A | CA433834926 | LAMB2 | c.717G>T (p.Leu239=) c.270G>T (p.Leu90=) | gnomAD v4 |
3 | g.49131148C= | CA1363342853 | LAMB2 | c.717G= (p.Leu239=) c.270G= (p.Leu90=) | |
3 | g.49131148C>G | CA2394809 | LAMB2 | c.717G>C (p.Leu239=) c.270G>C (p.Leu90=) | dbSNP ExAC gnomAD v2 |
3 | g.49131148C>T | CA433834928 | LAMB2 | c.717G>A (p.Leu239=) c.270G>A (p.Leu90=) | gnomAD v4 |
3 | g.49131149A= | CA1363342854 | LAMB2 | c.716T= (p.Leu239=) c.269T= (p.Leu90=) | |
3 | g.49131149A>C | CA352748648 | LAMB2 | c.716T>G (p.Leu239Arg) c.269T>G (p.Leu90Arg) | |
3 | g.49131149A>G | CA352748649 | LAMB2 | c.716T>C (p.Leu239Pro) c.269T>C (p.Leu90Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49131149A>T | CA352748650 | LAMB2 | c.716T>A (p.Leu239Gln) c.269T>A (p.Leu90Gln) | |
3 | g.49131150G>A | CA433834929 | LAMB2 | c.715C>T (p.Leu239=) c.268C>T (p.Leu90=) | dbSNP gnomAD v4 |
3 | g.49131150G>C | CA352748653 | LAMB2 | c.715C>G (p.Leu239Val) c.268C>G (p.Leu90Val) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.49131150G= | CA1363342855 | LAMB2 | c.715C= (p.Leu239=) c.268C= (p.Leu90=) | |
3 | g.49131150G>T | CA352748657 | LAMB2 | c.715C>A (p.Leu239Met) c.268C>A (p.Leu90Met) | |
3 | g.49131151G>A | CA2394810 | LAMB2 | c.714C>T (p.Asn238=) c.267C>T (p.Asn89=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49131151G>C | CA352748671 | LAMB2 | c.714C>G (p.Asn238Lys) c.267C>G (p.Asn89Lys) | |
3 | g.49131151G= | CA1363342856 | LAMB2 | c.714C= (p.Asn238=) c.267C= (p.Asn89=) | |
3 | g.49131151G>T | CA352748661 | LAMB2 | c.714C>A (p.Asn238Lys) c.267C>A (p.Asn89Lys) | |
3 | g.49131152T>A | CA352748680 | LAMB2 | c.713A>T (p.Asn238Ile) c.266A>T (p.Asn89Ile) | |
3 | g.49131152T>C | CA352748683 | LAMB2 | c.713A>G (p.Asn238Ser) c.266A>G (p.Asn89Ser) | |
3 | g.49131152T>G | CA74488695 | LAMB2 | c.713A>C (p.Asn238Thr) c.266A>C (p.Asn89Thr) | dbSNP gnomAD v4 |
3 | g.49131152T= | CA1363342857 | LAMB2 | c.713A= (p.Asn238=) c.266A= (p.Asn89=) | |
3 | g.49131153C>A | CA352748685 | LAMB2 | c.713-1G>T (n.713-1G>T) c.266-1G>T (n.266-1G>T) | |
3 | g.49131153C>G | CA352748686 | LAMB2 | c.713-1G>C (n.713-1G>C) c.266-1G>C (n.266-1G>C) | |
3 | g.49131153C>T | CA352748689 | LAMB2 | c.713-1G>A (n.713-1G>A) c.266-1G>A (n.266-1G>A) |