Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68347958_68347968delinsTGGACTTCCAGCA1980629765LRP5c.203_213delinsTGGACTTCCAG (p.Val68=)
c.-1563_-1553delinsTGGACTTCCAG (n.-1563_-1553delinsTGGACTTCCAG)
c.230_240delinsTGGACTTCCAG (p.Val77=)
n.245_255delinsTGGACTTCCAG
11g.68347959_68347968delCA600238881LRP5c.204_213del (p.Asp69PhefsTer11)
c.-1562_-1553del (n.-1562_-1553del)
c.231_240del (p.Asp78PhefsTer11)
n.246_255del
 ClinVar dbSNP gnomAD v2
11g.68347963T>ACA381610284LRP5c.208T>A (p.Phe70Ile)
c.-1558T>A (n.-1558T>A)
c.235T>A (p.Phe79Ile)
n.250T>A
11g.68347963T>CCA381610285LRP5c.208T>C (p.Phe70Leu)
c.-1558T>C (n.-1558T>C)
c.235T>C (p.Phe79Leu)
n.250T>C
11g.68347963T>GCA381610286LRP5c.208T>G (p.Phe70Val)
c.-1558T>G (n.-1558T>G)
c.235T>G (p.Phe79Val)
n.250T>G
11g.68347964T>ACA381610287LRP5c.209T>A (p.Phe70Tyr)
c.-1557T>A (n.-1557T>A)
c.236T>A (p.Phe79Tyr)
n.251T>A
 ClinVar dbSNP gnomAD v4
11g.68347964T>CCA381610288LRP5c.209T>C (p.Phe70Ser)
c.-1557T>C (n.-1557T>C)
c.236T>C (p.Phe79Ser)
n.251T>C
11g.68347964T>GCA381610289LRP5c.209T>G (p.Phe70Cys)
c.-1557T>G (n.-1557T>G)
c.236T>G (p.Phe79Cys)
n.251T>G
11g.68347964_68347965delinsAACA916083252LRP5c.209_210delinsAA (p.Phe70Ter)
c.-1557_-1556delinsAA (n.-1557_-1556delinsAA)
c.236_237delinsAA (p.Phe79Ter)
n.251_252delinsAA
 ClinVar dbSNP
11g.68347964_68347965delinsTCCA1980629784LRP5c.209_210delinsTC (p.Phe70=)
c.-1557_-1556delinsTC (n.-1557_-1556delinsTC)
c.236_237delinsTC (p.Phe79=)
n.251_252delinsTC
11g.68347965C>ACA381610290LRP5c.210C>A (p.Phe70Leu)
c.-1556C>A (n.-1556C>A)
c.237C>A (p.Phe79Leu)
n.252C>A
 ClinVar dbSNP gnomAD v4
11g.68347965C=CA1980629790LRP5c.210C= (p.Phe70=)
c.-1556C= (n.-1556C=)
c.237C= (p.Phe79=)
n.252C=
11g.68347965C>GCA381610291LRP5c.210C>G (p.Phe70Leu)
c.-1556C>G (n.-1556C>G)
c.237C>G (p.Phe79Leu)
n.252C>G
11g.68347965C>TCA6148935LRP5c.210C>T (p.Phe70=)
c.-1556C>T (n.-1556C>T)
c.237C>T (p.Phe79=)
n.252C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68347966C>ACA381610292LRP5c.211C>A (p.Gln71Lys)
c.-1555C>A (n.-1555C>A)
c.238C>A (p.Gln80Lys)
n.253C>A
11g.68347966C>GCA381610294LRP5c.211C>G (p.Gln71Glu)
c.-1555C>G (n.-1555C>G)
c.238C>G (p.Gln80Glu)
n.253C>G
11g.68347966C>TCA381610293LRP5c.211C>T (p.Gln71Ter)
c.-1555C>T (n.-1555C>T)
c.238C>T (p.Gln80Ter)
n.253C>T
 gnomAD v4
11g.68347967A=CA1980629795LRP5c.212A= (p.Gln71=)
c.-1554A= (n.-1554A=)
c.239A= (p.Gln80=)
n.254A=
11g.68347967A>CCA381610295LRP5c.212A>C (p.Gln71Pro)
c.-1554A>C (n.-1554A>C)
c.239A>C (p.Gln80Pro)
n.254A>C
 gnomAD v4
11g.68347967A>GCA6148936LRP5c.212A>G (p.Gln71Arg)
c.-1554A>G (n.-1554A>G)
c.239A>G (p.Gln80Arg)
n.254A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68347967A>TCA381610296LRP5c.212A>T (p.Gln71Leu)
c.-1554A>T (n.-1554A>T)
c.239A>T (p.Gln80Leu)
n.254A>T
11g.68347968G>ACA475516770LRP5c.213G>A (p.Gln71=)
c.-1553G>A (n.-1553G>A)
c.240G>A (p.Gln80=)
n.255G>A
11g.68347968G>CCA381610297LRP5c.213G>C (p.Gln71His)
c.-1553G>C (n.-1553G>C)
c.240G>C (p.Gln80His)
n.255G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.68347968G=CA1980629800LRP5c.213G= (p.Gln71=)
c.-1553G= (n.-1553G=)
c.240G= (p.Gln80=)
n.255G=
11g.68347968G>TCA381610298LRP5c.213G>T (p.Gln71His)
c.-1553G>T (n.-1553G>T)
c.240G>T (p.Gln80His)
n.255G>T
11g.68347969T>ACA381610299LRP5c.214T>A (p.Phe72Ile)
c.-1552T>A (n.-1552T>A)
c.241T>A (p.Phe81Ile)
n.256T>A
11g.68347969T>CCA381610300LRP5c.214T>C (p.Phe72Leu)
c.-1552T>C (n.-1552T>C)
c.241T>C (p.Phe81Leu)
n.256T>C
 gnomAD v4
11g.68347969T>GCA381610301LRP5c.214T>G (p.Phe72Val)
c.-1552T>G (n.-1552T>G)
c.241T>G (p.Phe81Val)
n.256T>G
11g.68347970T>ACA381610302LRP5c.215T>A (p.Phe72Tyr)
c.-1551T>A (n.-1551T>A)
c.242T>A (p.Phe81Tyr)
n.257T>A
11g.68347970T>CCA381610303LRP5c.215T>C (p.Phe72Ser)
c.-1551T>C (n.-1551T>C)
c.242T>C (p.Phe81Ser)
n.257T>C
 gnomAD v4
11g.68347970T>GCA381610304LRP5c.215T>G (p.Phe72Cys)
c.-1551T>G (n.-1551T>G)
c.242T>G (p.Phe81Cys)
n.257T>G
11g.68347971T>ACA381610305LRP5c.216T>A (p.Phe72Leu)
c.-1550T>A (n.-1550T>A)
c.243T>A (p.Phe81Leu)
n.258T>A
11g.68347971T>CCA475516772LRP5c.216T>C (p.Phe72=)
c.-1550T>C (n.-1550T>C)
c.243T>C (p.Phe81=)
n.258T>C
11g.68347971T>GCA381610306LRP5c.216T>G (p.Phe72Leu)
c.-1550T>G (n.-1550T>G)
c.243T>G (p.Phe81Leu)
n.258T>G
11g.68347972T>ACA381610307LRP5c.217T>A (p.Ser73Thr)
c.-1549T>A (n.-1549T>A)
c.244T>A (p.Ser82Thr)
n.259T>A
11g.68347972T>CCA381610308LRP5c.217T>C (p.Ser73Pro)
c.-1549T>C (n.-1549T>C)
c.244T>C (p.Ser82Pro)
n.259T>C
11g.68347972T>GCA381610309LRP5c.217T>G (p.Ser73Ala)
c.-1549T>G (n.-1549T>G)
c.244T>G (p.Ser82Ala)
n.259T>G
 gnomAD v4
11g.68347973C>ACA381610310LRP5c.218C>A (p.Ser73Tyr)
c.-1548C>A (n.-1548C>A)
c.245C>A (p.Ser82Tyr)
n.260C>A
11g.68347973C=CA1980629810LRP5c.218C= (p.Ser73=)
c.-1548C= (n.-1548C=)
c.245C= (p.Ser82=)
n.260C=
11g.68347973C>GCA381610312LRP5c.218C>G (p.Ser73Cys)
c.-1548C>G (n.-1548C>G)
c.245C>G (p.Ser82Cys)
n.260C>G
11g.68347973C>TCA381610311LRP5c.218C>T (p.Ser73Phe)
c.-1548C>T (n.-1548C>T)
c.245C>T (p.Ser82Phe)
n.260C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68347974C>ACA475516778LRP5c.219C>A (p.Ser73=)
c.-1547C>A (n.-1547C>A)
c.246C>A (p.Ser82=)
n.261C>A
11g.68347974C=CA1980629817LRP5c.219C= (p.Ser73=)
c.-1547C= (n.-1547C=)
c.246C= (p.Ser82=)
n.261C=
11g.68347974C>GCA475516779LRP5c.219C>G (p.Ser73=)
c.-1547C>G (n.-1547C>G)
c.246C>G (p.Ser82=)
n.261C>G
11g.68347974C>TCA6148937LRP5c.219C>T (p.Ser73=)
c.-1547C>T (n.-1547C>T)
c.246C>T (p.Ser82=)
n.261C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68347975A=CA1980629824LRP5c.220A= (p.Lys74=)
c.-1546A= (n.-1546A=)
c.247A= (p.Lys83=)
n.262A=
11g.68347975A>CCA381610313LRP5c.220A>C (p.Lys74Gln)
c.-1546A>C (n.-1546A>C)
c.247A>C (p.Lys83Gln)
n.262A>C
11g.68347975A>GCA6148938LRP5c.220A>G (p.Lys74Glu)
c.-1546A>G (n.-1546A>G)
c.247A>G (p.Lys83Glu)
n.262A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68347975A>TCA381610314LRP5c.220A>T (p.Lys74Ter)
c.-1546A>T (n.-1546A>T)
c.247A>T (p.Lys83Ter)
n.262A>T
11g.68347976A=CA1980629830LRP5c.221A= (p.Lys74=)
c.-1545A= (n.-1545A=)
c.248A= (p.Lys83=)
n.263A=

Number of alleles fetched