Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.50710816delCA2573152310NOD2c.824del (p.Gly275AlafsTer?)
c.905del (p.Gly302AlafsTer?)
n.965del
c.401del (p.Gly134AlafsTer?)
c.239del (p.Gly80AlafsTer?)
n.914del
c.332del (p.Gly111AlafsTer?)
n.867del
n.889del
 ClinVar dbSNP gnomAD v4
16g.50710816G>ACA395867810NOD2c.824G>A (p.Gly275Asp)
c.905G>A (p.Gly302Asp)
n.965G>A
c.401G>A (p.Gly134Asp)
c.239G>A (p.Gly80Asp)
n.914G>A
c.332G>A (p.Gly111Asp)
n.867G>A
n.889G>A
 gnomAD v4
16g.50710816G>CCA395867811NOD2c.824G>C (p.Gly275Ala)
c.905G>C (p.Gly302Ala)
n.965G>C
c.401G>C (p.Gly134Ala)
c.239G>C (p.Gly80Ala)
n.914G>C
c.332G>C (p.Gly111Ala)
n.867G>C
n.889G>C
16g.50710816G>TCA395867812NOD2c.824G>T (p.Gly275Val)
c.905G>T (p.Gly302Val)
n.965G>T
c.401G>T (p.Gly134Val)
c.239G>T (p.Gly80Val)
n.914G>T
c.332G>T (p.Gly111Val)
n.867G>T
n.889G>T
16g.50710817C>ACA495778197NOD2c.825C>A (p.Gly275=)
c.906C>A (p.Gly302=)
n.966C>A
c.402C>A (p.Gly134=)
c.240C>A (p.Gly80=)
n.915C>A
c.333C>A (p.Gly111=)
n.868C>A
n.890C>A
16g.50710817C>GCA495778198NOD2c.825C>G (p.Gly275=)
c.906C>G (p.Gly302=)
n.966C>G
c.402C>G (p.Gly134=)
c.240C>G (p.Gly80=)
n.915C>G
c.333C>G (p.Gly111=)
n.868C>G
n.890C>G
16g.50710817C>TCA495778199NOD2c.825C>T (p.Gly275=)
c.906C>T (p.Gly302=)
n.966C>T
c.402C>T (p.Gly134=)
c.240C>T (p.Gly80=)
n.915C>T
c.333C>T (p.Gly111=)
n.868C>T
n.890C>T
 gnomAD v4
16g.50710818A>CCA395867813NOD2c.826A>C (p.Ser276Arg)
c.907A>C (p.Ser303Arg)
n.967A>C
c.403A>C (p.Ser135Arg)
c.241A>C (p.Ser81Arg)
n.916A>C
c.334A>C (p.Ser112Arg)
n.869A>C
n.891A>C
16g.50710818A>GCA395867815NOD2c.826A>G (p.Ser276Gly)
c.907A>G (p.Ser303Gly)
n.967A>G
c.403A>G (p.Ser135Gly)
c.241A>G (p.Ser81Gly)
n.916A>G
c.334A>G (p.Ser112Gly)
n.869A>G
n.891A>G
16g.50710818A>TCA395867814NOD2c.826A>T (p.Ser276Cys)
c.907A>T (p.Ser303Cys)
n.967A>T
c.403A>T (p.Ser135Cys)
c.241A>T (p.Ser81Cys)
n.916A>T
c.334A>T (p.Ser112Cys)
n.869A>T
n.891A>T
16g.50710819G>ACA395867816NOD2c.827G>A (p.Ser276Asn)
c.908G>A (p.Ser303Asn)
n.968G>A
c.404G>A (p.Ser135Asn)
c.242G>A (p.Ser81Asn)
n.917G>A
c.335G>A (p.Ser112Asn)
n.870G>A
n.892G>A
 gnomAD v4
16g.50710819G>CCA395867817NOD2c.827G>C (p.Ser276Thr)
c.908G>C (p.Ser303Thr)
n.968G>C
c.404G>C (p.Ser135Thr)
c.242G>C (p.Ser81Thr)
n.917G>C
c.335G>C (p.Ser112Thr)
n.870G>C
n.892G>C
16g.50710819G>TCA395867818NOD2c.827G>T (p.Ser276Ile)
c.908G>T (p.Ser303Ile)
n.968G>T
c.404G>T (p.Ser135Ile)
c.242G>T (p.Ser81Ile)
n.917G>T
c.335G>T (p.Ser112Ile)
n.870G>T
n.892G>T
16g.50710820T>ACA395867819NOD2c.828T>A (p.Ser276Arg)
c.909T>A (p.Ser303Arg)
n.969T>A
c.405T>A (p.Ser135Arg)
c.243T>A (p.Ser81Arg)
n.918T>A
c.336T>A (p.Ser112Arg)
n.871T>A
n.893T>A
16g.50710820T>CCA495778203NOD2c.828T>C (p.Ser276=)
c.909T>C (p.Ser303=)
n.969T>C
c.405T>C (p.Ser135=)
c.243T>C (p.Ser81=)
n.918T>C
c.336T>C (p.Ser112=)
n.871T>C
n.893T>C
16g.50710820T>GCA395867820NOD2c.828T>G (p.Ser276Arg)
c.909T>G (p.Ser303Arg)
n.969T>G
c.405T>G (p.Ser135Arg)
c.243T>G (p.Ser81Arg)
n.918T>G
c.336T>G (p.Ser112Arg)
n.871T>G
n.893T>G
16g.50710821G>ACA395867821NOD2c.829G>A (p.Gly277Ser)
c.910G>A (p.Gly304Ser)
n.970G>A
c.406G>A (p.Gly136Ser)
c.244G>A (p.Gly82Ser)
n.919G>A
c.337G>A (p.Gly113Ser)
n.872G>A
n.894G>A
16g.50710821G>CCA395867822NOD2c.829G>C (p.Gly277Arg)
c.910G>C (p.Gly304Arg)
n.970G>C
c.406G>C (p.Gly136Arg)
c.244G>C (p.Gly82Arg)
n.919G>C
c.337G>C (p.Gly113Arg)
n.872G>C
n.894G>C
16g.50710821G>TCA395867823NOD2c.829G>T (p.Gly277Cys)
c.910G>T (p.Gly304Cys)
n.970G>T
c.406G>T (p.Gly136Cys)
c.244G>T (p.Gly82Cys)
n.919G>T
c.337G>T (p.Gly113Cys)
n.872G>T
n.894G>T
16g.50710822G>ACA395867824NOD2c.830G>A (p.Gly277Asp)
c.911G>A (p.Gly304Asp)
n.971G>A
c.407G>A (p.Gly136Asp)
c.245G>A (p.Gly82Asp)
n.920G>A
c.338G>A (p.Gly113Asp)
n.873G>A
n.895G>A
16g.50710822G>CCA395867825NOD2c.830G>C (p.Gly277Ala)
c.911G>C (p.Gly304Ala)
n.971G>C
c.407G>C (p.Gly136Ala)
c.245G>C (p.Gly82Ala)
n.920G>C
c.338G>C (p.Gly113Ala)
n.873G>C
n.895G>C
16g.50710822G>TCA395867826NOD2c.830G>T (p.Gly277Val)
c.911G>T (p.Gly304Val)
n.971G>T
c.407G>T (p.Gly136Val)
c.245G>T (p.Gly82Val)
n.920G>T
c.338G>T (p.Gly113Val)
n.873G>T
n.895G>T
16g.50710823C>ACA495778207NOD2c.831C>A (p.Gly277=)
c.912C>A (p.Gly304=)
n.972C>A
c.408C>A (p.Gly136=)
c.246C>A (p.Gly82=)
n.921C>A
c.339C>A (p.Gly113=)
n.874C>A
n.896C>A
 COSMIC
16g.50710823C>GCA495778208NOD2c.831C>G (p.Gly277=)
c.912C>G (p.Gly304=)
n.972C>G
c.408C>G (p.Gly136=)
c.246C>G (p.Gly82=)
n.921C>G
c.339C>G (p.Gly113=)
n.874C>G
n.896C>G
16g.50710823C>TCA495778211NOD2c.831C>T (p.Gly277=)
c.912C>T (p.Gly304=)
n.972C>T
c.408C>T (p.Gly136=)
c.246C>T (p.Gly82=)
n.921C>T
c.339C>T (p.Gly113=)
n.874C>T
n.896C>T
16g.50710824A>CCA395867829NOD2c.832A>C (p.Lys278Gln)
c.913A>C (p.Lys305Gln)
n.973A>C
c.409A>C (p.Lys137Gln)
c.247A>C (p.Lys83Gln)
n.922A>C
c.340A>C (p.Lys114Gln)
n.875A>C
n.897A>C
16g.50710824A>GCA395867828NOD2c.832A>G (p.Lys278Glu)
c.913A>G (p.Lys305Glu)
n.973A>G
c.409A>G (p.Lys137Glu)
c.247A>G (p.Lys83Glu)
n.922A>G
c.340A>G (p.Lys114Glu)
n.875A>G
n.897A>G
16g.50710824A>TCA395867827NOD2c.832A>T (p.Lys278Ter)
c.913A>T (p.Lys305Ter)
n.973A>T
c.409A>T (p.Lys137Ter)
c.247A>T (p.Lys83Ter)
n.922A>T
c.340A>T (p.Lys114Ter)
n.875A>T
n.897A>T
16g.50710825A>CCA395867830NOD2c.833A>C (p.Lys278Thr)
c.914A>C (p.Lys305Thr)
n.974A>C
c.410A>C (p.Lys137Thr)
c.248A>C (p.Lys83Thr)
n.923A>C
c.341A>C (p.Lys114Thr)
n.876A>C
n.898A>C
16g.50710825A>GCA395867832NOD2c.833A>G (p.Lys278Arg)
c.914A>G (p.Lys305Arg)
n.974A>G
c.410A>G (p.Lys137Arg)
c.248A>G (p.Lys83Arg)
n.923A>G
c.341A>G (p.Lys114Arg)
n.876A>G
n.898A>G
16g.50710825A>TCA395867831NOD2c.833A>T (p.Lys278Met)
c.914A>T (p.Lys305Met)
n.974A>T
c.410A>T (p.Lys137Met)
c.248A>T (p.Lys83Met)
n.923A>T
c.341A>T (p.Lys114Met)
n.876A>T
n.898A>T
16g.50710826G>ACA8051422NOD2c.834G>A (p.Lys278=)
c.915G>A (p.Lys305=)
n.975G>A
c.411G>A (p.Lys137=)
c.249G>A (p.Lys83=)
n.924G>A
c.342G>A (p.Lys114=)
n.877G>A
n.899G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.50710826G>CCA395867833NOD2c.834G>C (p.Lys278Asn)
c.915G>C (p.Lys305Asn)
n.975G>C
c.411G>C (p.Lys137Asn)
c.249G>C (p.Lys83Asn)
n.924G>C
c.342G>C (p.Lys114Asn)
n.877G>C
n.899G>C
16g.50710826G=CA2221859619NOD2c.834G= (p.Lys278=)
c.915G= (p.Lys305=)
n.975G=
c.411G= (p.Lys137=)
c.249G= (p.Lys83=)
n.924G=
c.342G= (p.Lys114=)
n.877G=
n.899G=
16g.50710826G>TCA395867834NOD2c.834G>T (p.Lys278Asn)
c.915G>T (p.Lys305Asn)
n.975G>T
c.411G>T (p.Lys137Asn)
c.249G>T (p.Lys83Asn)
n.924G>T
c.342G>T (p.Lys114Asn)
n.877G>T
n.899G>T
16g.50710827A=CA2221859626NOD2c.835A= (p.Ser279=)
c.916A= (p.Ser306=)
n.976A=
c.412A= (p.Ser138=)
c.250A= (p.Ser84=)
n.925A=
c.343A= (p.Ser115=)
n.878A=
n.900A=
16g.50710827A>CCA395867835NOD2c.835A>C (p.Ser279Arg)
c.916A>C (p.Ser306Arg)
n.976A>C
c.412A>C (p.Ser138Arg)
c.250A>C (p.Ser84Arg)
n.925A>C
c.343A>C (p.Ser115Arg)
n.878A>C
n.900A>C
 dbSNP
16g.50710827A>GCA395867836NOD2c.835A>G (p.Ser279Gly)
c.916A>G (p.Ser306Gly)
n.976A>G
c.412A>G (p.Ser138Gly)
c.250A>G (p.Ser84Gly)
n.925A>G
c.343A>G (p.Ser115Gly)
n.878A>G
n.900A>G
16g.50710827A>TCA395867837NOD2c.835A>T (p.Ser279Cys)
c.916A>T (p.Ser306Cys)
n.976A>T
c.412A>T (p.Ser138Cys)
c.250A>T (p.Ser84Cys)
n.925A>T
c.343A>T (p.Ser115Cys)
n.878A>T
n.900A>T
16g.50710828G>ACA395867839NOD2c.836G>A (p.Ser279Asn)
c.917G>A (p.Ser306Asn)
n.977G>A
c.413G>A (p.Ser138Asn)
c.251G>A (p.Ser84Asn)
n.926G>A
c.344G>A (p.Ser115Asn)
n.879G>A
n.901G>A
 dbSNP gnomAD v2 gnomAD v4
16g.50710828G>CCA395867840NOD2c.836G>C (p.Ser279Thr)
c.917G>C (p.Ser306Thr)
n.977G>C
c.413G>C (p.Ser138Thr)
c.251G>C (p.Ser84Thr)
n.926G>C
c.344G>C (p.Ser115Thr)
n.879G>C
n.901G>C
16g.50710828G=CA2221859631NOD2c.836G= (p.Ser279=)
c.917G= (p.Ser306=)
n.977G=
c.413G= (p.Ser138=)
c.251G= (p.Ser84=)
n.926G=
c.344G= (p.Ser115=)
n.879G=
n.901G=
16g.50710828G>TCA395867841NOD2c.836G>T (p.Ser279Ile)
c.917G>T (p.Ser306Ile)
n.977G>T
c.413G>T (p.Ser138Ile)
c.251G>T (p.Ser84Ile)
n.926G>T
c.344G>T (p.Ser115Ile)
n.879G>T
n.901G>T
 gnomAD v4
16g.50710829C>ACA395867842NOD2c.837C>A (p.Ser279Arg)
c.918C>A (p.Ser306Arg)
n.978C>A
c.414C>A (p.Ser138Arg)
c.252C>A (p.Ser84Arg)
n.927C>A
c.345C>A (p.Ser115Arg)
n.880C>A
n.902C>A
16g.50710829C>GCA395867843NOD2c.837C>G (p.Ser279Arg)
c.918C>G (p.Ser306Arg)
n.978C>G
c.414C>G (p.Ser138Arg)
c.252C>G (p.Ser84Arg)
n.927C>G
c.345C>G (p.Ser115Arg)
n.880C>G
n.902C>G
16g.50710829C>TCA495778218NOD2c.837C>T (p.Ser279=)
c.918C>T (p.Ser306=)
n.978C>T
c.414C>T (p.Ser138=)
c.252C>T (p.Ser84=)
n.927C>T
c.345C>T (p.Ser115=)
n.880C>T
n.902C>T
 gnomAD v4
16g.50710830A=CA2221859635NOD2c.838A= (p.Thr280=)
c.919A= (p.Thr307=)
n.979A=
c.415A= (p.Thr139=)
c.253A= (p.Thr85=)
n.928A=
c.346A= (p.Thr116=)
n.881A=
n.903A=
16g.50710830A>CCA395867846NOD2c.838A>C (p.Thr280Pro)
c.919A>C (p.Thr307Pro)
n.979A>C
c.415A>C (p.Thr139Pro)
c.253A>C (p.Thr85Pro)
n.928A>C
c.346A>C (p.Thr116Pro)
n.881A>C
n.903A>C
 gnomAD v4
16g.50710830A>GCA395867845NOD2c.838A>G (p.Thr280Ala)
c.919A>G (p.Thr307Ala)
n.979A>G
c.415A>G (p.Thr139Ala)
c.253A>G (p.Thr85Ala)
n.928A>G
c.346A>G (p.Thr116Ala)
n.881A>G
n.903A>G
16g.50710830A>TCA395867844NOD2c.838A>T (p.Thr280Ser)
c.919A>T (p.Thr307Ser)
n.979A>T
c.415A>T (p.Thr139Ser)
c.253A>T (p.Thr85Ser)
n.928A>T
c.346A>T (p.Thr116Ser)
n.881A>T
n.903A>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC

Number of alleles fetched