Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.169201627C>ACA349165059LRP2c.8452+1G>T (n.8452+1G>T)
c.6163+1G>T (n.6163+1G>T)
2g.169201627C=CA1306330046LRP2c.8452+1G= (n.8452+1G=)
c.6163+1G= (n.6163+1G=)
2g.169201627C>GCA349165057LRP2c.8452+1G>C (n.8452+1G>C)
c.6163+1G>C (n.6163+1G>C)
2g.169201627C>TCA340913LRP2c.8452+1G>A (n.8452+1G>A)
c.6163+1G>A (n.6163+1G>A)
 ClinVar dbSNP gnomAD v4
2g.169201627_169201628delCA2580064430LRP2c.8452_8452+1del
c.6163_6163+1del
 ClinVar
2g.169201628G>ACA1953865LRP2c.8452C>T (p.Pro2818Ser)
c.6163C>T (p.Pro2055Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.169201628G>CCA1953866LRP2c.8452C>G (p.Pro2818Ala)
c.6163C>G (p.Pro2055Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.169201628G=CA1306330048LRP2c.8452C= (p.Pro2818=)
c.6163C= (p.Pro2055=)
2g.169201628G>TCA349165063LRP2c.8452C>A (p.Pro2818Thr)
c.6163C>A (p.Pro2055Thr)
2g.169201629G>ACA429986190LRP2c.8451C>T (p.Cys2817=)
c.6162C>T (p.Cys2054=)
 dbSNP gnomAD v2 gnomAD v4
2g.169201629G>CCA349165065LRP2c.8451C>G (p.Cys2817Trp)
c.6162C>G (p.Cys2054Trp)
2g.169201629G=CA1306330050LRP2c.8451C= (p.Cys2817=)
c.6162C= (p.Cys2054=)
2g.169201629G>TCA349165067LRP2c.8451C>A (p.Cys2817Ter)
c.6162C>A (p.Cys2054Ter)
2g.169201630C>ACA349165068LRP2c.8450G>T (p.Cys2817Phe)
c.6161G>T (p.Cys2054Phe)
2g.169201630C>GCA349165070LRP2c.8450G>C (p.Cys2817Ser)
c.6161G>C (p.Cys2054Ser)
2g.169201630C>TCA349165071LRP2c.8450G>A (p.Cys2817Tyr)
c.6161G>A (p.Cys2054Tyr)
2g.169201631A>CCA349165072LRP2c.8449T>G (p.Cys2817Gly)
c.6160T>G (p.Cys2054Gly)
2g.169201631A>GCA349165074LRP2c.8449T>C (p.Cys2817Arg)
c.6160T>C (p.Cys2054Arg)
2g.169201631A>TCA349165075LRP2c.8449T>A (p.Cys2817Ser)
c.6160T>A (p.Cys2054Ser)
2g.169201632A=CA1306330052LRP2c.8448T= (p.Asn2816=)
c.6159T= (p.Asn2053=)
2g.169201632A>CCA349165077LRP2c.8448T>G (p.Asn2816Lys)
c.6159T>G (p.Asn2053Lys)
2g.169201632A>GCA429986191LRP2c.8448T>C (p.Asn2816=)
c.6159T>C (p.Asn2053=)
 dbSNP gnomAD v3 gnomAD v4
2g.169201632A>TCA349165079LRP2c.8448T>A (p.Asn2816Lys)
c.6159T>A (p.Asn2053Lys)
 COSMIC
2g.169201633T>ACA349165084LRP2c.8447A>T (p.Asn2816Ile)
c.6158A>T (p.Asn2053Ile)
2g.169201633T>CCA349165083LRP2c.8447A>G (p.Asn2816Ser)
c.6158A>G (p.Asn2053Ser)
2g.169201633T>GCA349165081LRP2c.8447A>C (p.Asn2816Thr)
c.6158A>C (p.Asn2053Thr)
2g.169201634T>ACA349165087LRP2c.8446A>T (p.Asn2816Tyr)
c.6157A>T (p.Asn2053Tyr)
2g.169201634T>CCA349165086LRP2c.8446A>G (p.Asn2816Asp)
c.6157A>G (p.Asn2053Asp)
2g.169201634T>GCA349165089LRP2c.8446A>C (p.Asn2816His)
c.6157A>C (p.Asn2053His)
2g.169201635T>ACA349165090LRP2c.8445A>T (p.Lys2815Asn)
c.6156A>T (p.Lys2052Asn)
2g.169201635T>CCA429986195LRP2c.8445A>G (p.Lys2815=)
c.6156A>G (p.Lys2052=)
2g.169201635T>GCA349165092LRP2c.8445A>C (p.Lys2815Asn)
c.6156A>C (p.Lys2052Asn)
2g.169201636T>ACA349165093LRP2c.8444A>T (p.Lys2815Ile)
c.6155A>T (p.Lys2052Ile)
2g.169201636T>CCA349165094LRP2c.8444A>G (p.Lys2815Arg)
c.6155A>G (p.Lys2052Arg)
2g.169201636T>GCA349165096LRP2c.8444A>C (p.Lys2815Thr)
c.6155A>C (p.Lys2052Thr)
2g.169201637T>ACA349165098LRP2c.8443A>T (p.Lys2815Ter)
c.6154A>T (p.Lys2052Ter)
2g.169201637T>CCA349165099LRP2c.8443A>G (p.Lys2815Glu)
c.6154A>G (p.Lys2052Glu)
2g.169201637T>GCA349165101LRP2c.8443A>C (p.Lys2815Gln)
c.6154A>C (p.Lys2052Gln)
2g.169201638C>ACA349165103LRP2c.8442G>T (p.Glu2814Asp)
c.6153G>T (p.Glu2051Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.169201638C=CA1306330054LRP2c.8442G= (p.Glu2814=)
c.6153G= (p.Glu2051=)
2g.169201638C>GCA349165105LRP2c.8442G>C (p.Glu2814Asp)
c.6153G>C (p.Glu2051Asp)
2g.169201638C>TCA429986199LRP2c.8442G>A (p.Glu2814=)
c.6153G>A (p.Glu2051=)
2g.169201639T>ACA349165106LRP2c.8441A>T (p.Glu2814Val)
c.6152A>T (p.Glu2051Val)
2g.169201639T>CCA349165108LRP2c.8441A>G (p.Glu2814Gly)
c.6152A>G (p.Glu2051Gly)
2g.169201639T>GCA349165110LRP2c.8441A>C (p.Glu2814Ala)
c.6152A>C (p.Glu2051Ala)
2g.169201640C>ACA349165114LRP2c.8440G>T (p.Glu2814Ter)
c.6151G>T (p.Glu2051Ter)
2g.169201640C>GCA349165113LRP2c.8440G>C (p.Glu2814Gln)
c.6151G>C (p.Glu2051Gln)
2g.169201640C>TCA349165112LRP2c.8440G>A (p.Glu2814Lys)
c.6151G>A (p.Glu2051Lys)
 COSMIC
2g.169201641A>CCA349165116LRP2c.8439T>G (p.Asp2813Glu)
c.6150T>G (p.Asp2050Glu)
 gnomAD v4
2g.169201641A>GCA429986205LRP2c.8439T>C (p.Asp2813=)
c.6150T>C (p.Asp2050=)

Number of alleles fetched