Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.110688610T>ACA518026767CHRDL1c.972A>T (p.Pro324=)
c.951A>T (p.Pro317=)
c.969A>T (p.Pro323=)
c.732A>T (p.Pro244=)
n.1235A>T
Xg.110688610T>CCA334363714CHRDL1c.972A>G (p.Pro324=)
c.951A>G (p.Pro317=)
c.969A>G (p.Pro323=)
c.732A>G (p.Pro244=)
n.1235A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.110688610T>GCA518026768CHRDL1c.972A>C (p.Pro324=)
c.951A>C (p.Pro317=)
c.969A>C (p.Pro323=)
c.732A>C (p.Pro244=)
n.1235A>C
Xg.110688610T=CA2451455693CHRDL1c.972A= (p.Pro324=)
c.951A= (p.Pro317=)
c.969A= (p.Pro323=)
c.732A= (p.Pro244=)
n.1235A=
Xg.110688611G>ACA414229101CHRDL1c.971C>T (p.Pro324Leu)
c.950C>T (p.Pro317Leu)
c.968C>T (p.Pro323Leu)
c.731C>T (p.Pro244Leu)
n.1234C>T
Xg.110688611G>CCA414229102CHRDL1c.971C>G (p.Pro324Arg)
c.950C>G (p.Pro317Arg)
c.968C>G (p.Pro323Arg)
c.731C>G (p.Pro244Arg)
n.1234C>G
Xg.110688611G>TCA414229103CHRDL1c.971C>A (p.Pro324Gln)
c.950C>A (p.Pro317Gln)
c.968C>A (p.Pro323Gln)
c.731C>A (p.Pro244Gln)
n.1234C>A
Xg.110688612delCA2694462954CHRDL1c.971del (p.Pro324GlnfsTer?)
c.950del (p.Pro317GlnfsTer?)
c.968del (p.Pro323GlnfsTer?)
c.731del (p.Pro244GlnfsTer?)
n.1234del
 gnomAD v4
Xg.110688612G>ACA10492357CHRDL1c.970C>T (p.Pro324Ser)
c.949C>T (p.Pro317Ser)
c.967C>T (p.Pro323Ser)
c.730C>T (p.Pro244Ser)
n.1233C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.110688612G>CCA414229106CHRDL1c.970C>G (p.Pro324Ala)
c.949C>G (p.Pro317Ala)
c.967C>G (p.Pro323Ala)
c.730C>G (p.Pro244Ala)
n.1233C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.110688612G=CA2451455694CHRDL1c.970C= (p.Pro324=)
c.949C= (p.Pro317=)
c.967C= (p.Pro323=)
c.730C= (p.Pro244=)
n.1233C=
Xg.110688612G>TCA414229108CHRDL1c.970C>A (p.Pro324Thr)
c.949C>A (p.Pro317Thr)
c.967C>A (p.Pro323Thr)
c.730C>A (p.Pro244Thr)
n.1233C>A
Xg.110688613A=CA2451455695CHRDL1c.969T= (p.Cys323=)
c.948T= (p.Cys316=)
c.966T= (p.Cys322=)
c.729T= (p.Cys243=)
n.1232T=
Xg.110688613A>CCA414229113CHRDL1c.969T>G (p.Cys323Trp)
c.948T>G (p.Cys316Trp)
c.966T>G (p.Cys322Trp)
c.729T>G (p.Cys243Trp)
n.1232T>G
Xg.110688613A>GCA518026769CHRDL1c.969T>C (p.Cys323=)
c.948T>C (p.Cys316=)
c.966T>C (p.Cys322=)
c.729T>C (p.Cys243=)
n.1232T>C
Xg.110688613A>TCA414229111CHRDL1c.969T>A (p.Cys323Ter)
c.948T>A (p.Cys316Ter)
c.966T>A (p.Cys322Ter)
c.729T>A (p.Cys243Ter)
n.1232T>A
 dbSNP
Xg.110688614C>ACA414229115CHRDL1c.968G>T (p.Cys323Phe)
c.947G>T (p.Cys316Phe)
c.965G>T (p.Cys322Phe)
c.728G>T (p.Cys243Phe)
n.1231G>T
 ClinVar dbSNP
Xg.110688614C>GCA414229117CHRDL1c.968G>C (p.Cys323Ser)
c.947G>C (p.Cys316Ser)
c.965G>C (p.Cys322Ser)
c.728G>C (p.Cys243Ser)
n.1231G>C
Xg.110688614C>TCA414229118CHRDL1c.968G>A (p.Cys323Tyr)
c.947G>A (p.Cys316Tyr)
c.965G>A (p.Cys322Tyr)
c.728G>A (p.Cys243Tyr)
n.1231G>A
 gnomAD v4
Xg.110688615A>CCA414229119CHRDL1c.967T>G (p.Cys323Gly)
c.946T>G (p.Cys316Gly)
c.964T>G (p.Cys322Gly)
c.727T>G (p.Cys243Gly)
n.1230T>G
Xg.110688615A>GCA414229120CHRDL1c.967T>C (p.Cys323Arg)
c.946T>C (p.Cys316Arg)
c.964T>C (p.Cys322Arg)
c.727T>C (p.Cys243Arg)
n.1230T>C
Xg.110688615A>TCA414229122CHRDL1c.967T>A (p.Cys323Ser)
c.946T>A (p.Cys316Ser)
c.964T>A (p.Cys322Ser)
c.727T>A (p.Cys243Ser)
n.1230T>A
Xg.110688616C>ACA518026770CHRDL1c.966G>T (p.Val322=)
c.945G>T (p.Val315=)
c.963G>T (p.Val321=)
c.726G>T (p.Val242=)
n.1229G>T
Xg.110688616C>GCA518026771CHRDL1c.966G>C (p.Val322=)
c.945G>C (p.Val315=)
c.963G>C (p.Val321=)
c.726G>C (p.Val242=)
n.1229G>C
Xg.110688616C>TCA518026772CHRDL1c.966G>A (p.Val322=)
c.945G>A (p.Val315=)
c.963G>A (p.Val321=)
c.726G>A (p.Val242=)
n.1229G>A
Xg.110688617A>CCA414229123CHRDL1c.965T>G (p.Val322Gly)
c.944T>G (p.Val315Gly)
c.962T>G (p.Val321Gly)
c.725T>G (p.Val242Gly)
n.1228T>G
Xg.110688617A>GCA414229128CHRDL1c.965T>C (p.Val322Ala)
c.944T>C (p.Val315Ala)
c.962T>C (p.Val321Ala)
c.725T>C (p.Val242Ala)
n.1228T>C
Xg.110688617A>TCA414229126CHRDL1c.965T>A (p.Val322Glu)
c.944T>A (p.Val315Glu)
c.962T>A (p.Val321Glu)
c.725T>A (p.Val242Glu)
n.1228T>A
Xg.110688617_110688618delinsACCA2451455696CHRDL1c.964_965delinsGT (p.Val322=)
c.943_944delinsGT (p.Val315=)
c.961_962delinsGT (p.Val321=)
c.724_725delinsGT (p.Val242=)
n.1227_1228delinsGT
Xg.110688618C>ACA414229130CHRDL1c.964G>T (p.Val322Leu)
c.943G>T (p.Val315Leu)
c.961G>T (p.Val321Leu)
c.724G>T (p.Val242Leu)
n.1227G>T
Xg.110688618C=CA2451455697CHRDL1c.964G= (p.Val322=)
c.943G= (p.Val315=)
c.961G= (p.Val321=)
c.724G= (p.Val242=)
n.1227G=
Xg.110688618C>GCA414229131CHRDL1c.964G>C (p.Val322Leu)
c.943G>C (p.Val315Leu)
c.961G>C (p.Val321Leu)
c.724G>C (p.Val242Leu)
n.1227G>C
Xg.110688618C>TCA414229133CHRDL1c.964G>A (p.Val322Met)
c.943G>A (p.Val315Met)
c.961G>A (p.Val321Met)
c.724G>A (p.Val242Met)
n.1227G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.110688619delCA643814663CHRDL1c.964del (p.Val322CysfsTer?)
c.943del (p.Val315CysfsTer?)
c.961del (p.Val321CysfsTer?)
c.724del (p.Val242CysfsTer?)
n.1227del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.110688619C>ACA414229137CHRDL1c.963G>T (p.Lys321Asn)
c.942G>T (p.Lys314Asn)
c.960G>T (p.Lys320Asn)
c.723G>T (p.Lys241Asn)
n.1226G>T
Xg.110688619C=CA2451455698CHRDL1c.963G= (p.Lys321=)
c.942G= (p.Lys314=)
c.960G= (p.Lys320=)
c.723G= (p.Lys241=)
n.1226G=
Xg.110688619C>GCA414229138CHRDL1c.963G>C (p.Lys321Asn)
c.942G>C (p.Lys314Asn)
c.960G>C (p.Lys320Asn)
c.723G>C (p.Lys241Asn)
n.1226G>C
Xg.110688619C>TCA518026773CHRDL1c.963G>A (p.Lys321=)
c.942G>A (p.Lys314=)
c.960G>A (p.Lys320=)
c.723G>A (p.Lys241=)
n.1226G>A
 dbSNP
Xg.110688620T>ACA414229142CHRDL1c.962A>T (p.Lys321Met)
c.941A>T (p.Lys314Met)
c.959A>T (p.Lys320Met)
c.722A>T (p.Lys241Met)
n.1225A>T
Xg.110688620T>CCA414229144CHRDL1c.962A>G (p.Lys321Arg)
c.941A>G (p.Lys314Arg)
c.959A>G (p.Lys320Arg)
c.722A>G (p.Lys241Arg)
n.1225A>G
Xg.110688620T>GCA414229145CHRDL1c.962A>C (p.Lys321Thr)
c.941A>C (p.Lys314Thr)
c.959A>C (p.Lys320Thr)
c.722A>C (p.Lys241Thr)
n.1225A>C
Xg.110688621T>ACA414229146CHRDL1c.961A>T (p.Lys321Ter)
c.940A>T (p.Lys314Ter)
c.958A>T (p.Lys320Ter)
c.721A>T (p.Lys241Ter)
n.1224A>T
Xg.110688621T>CCA414229148CHRDL1c.961A>G (p.Lys321Glu)
c.940A>G (p.Lys314Glu)
c.958A>G (p.Lys320Glu)
c.721A>G (p.Lys241Glu)
n.1224A>G
Xg.110688621T>GCA414229150CHRDL1c.961A>C (p.Lys321Gln)
c.940A>C (p.Lys314Gln)
c.958A>C (p.Lys320Gln)
c.721A>C (p.Lys241Gln)
n.1224A>C
Xg.110688622G>ACA518026774CHRDL1c.960C>T (p.Cys320=)
c.939C>T (p.Cys313=)
c.957C>T (p.Cys319=)
c.720C>T (p.Cys240=)
n.1223C>T
Xg.110688622G>CCA414229151CHRDL1c.960C>G (p.Cys320Trp)
c.939C>G (p.Cys313Trp)
c.957C>G (p.Cys319Trp)
c.720C>G (p.Cys240Trp)
n.1223C>G
Xg.110688622G>TCA414229153CHRDL1c.960C>A (p.Cys320Ter)
c.939C>A (p.Cys313Ter)
c.957C>A (p.Cys319Ter)
c.720C>A (p.Cys240Ter)
n.1223C>A
 COSMIC
Xg.110688623C>ACA414229154CHRDL1c.959G>T (p.Cys320Phe)
c.938G>T (p.Cys313Phe)
c.956G>T (p.Cys319Phe)
c.719G>T (p.Cys240Phe)
n.1222G>T
Xg.110688623C>GCA414229155CHRDL1c.959G>C (p.Cys320Ser)
c.938G>C (p.Cys313Ser)
c.956G>C (p.Cys319Ser)
c.719G>C (p.Cys240Ser)
n.1222G>C
Xg.110688623C>TCA414229157CHRDL1c.959G>A (p.Cys320Tyr)
c.938G>A (p.Cys313Tyr)
c.956G>A (p.Cys319Tyr)
c.719G>A (p.Cys240Tyr)
n.1222G>A

Number of alleles fetched