| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.50710812G>A | CA395867802 | NOD2 | c.820G>A (p.Ala274Thr) c.901G>A (p.Ala301Thr) n.961G>A c.397G>A (p.Ala133Thr) c.235G>A (p.Ala79Thr) n.910G>A c.328G>A (p.Ala110Thr) n.863G>A n.885G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50710812G>C | CA395867803 | NOD2 | c.820G>C (p.Ala274Pro) c.901G>C (p.Ala301Pro) n.961G>C c.397G>C (p.Ala133Pro) c.235G>C (p.Ala79Pro) n.910G>C c.328G>C (p.Ala110Pro) n.863G>C n.885G>C | |
| 16 | g.50710812G= | CA2221859582 | NOD2 | c.820G= (p.Ala274=) c.901G= (p.Ala301=) n.961G= c.397G= (p.Ala133=) c.235G= (p.Ala79=) n.910G= c.328G= (p.Ala110=) n.863G= n.885G= | |
| 16 | g.50710812G>T | CA395867804 | NOD2 | c.820G>T (p.Ala274Ser) c.901G>T (p.Ala301Ser) n.961G>T c.397G>T (p.Ala133Ser) c.235G>T (p.Ala79Ser) n.910G>T c.328G>T (p.Ala110Ser) n.863G>T n.885G>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50710813C>A | CA395867805 | NOD2 | c.821C>A (p.Ala274Glu) c.902C>A (p.Ala301Glu) n.962C>A c.398C>A (p.Ala133Glu) c.236C>A (p.Ala79Glu) n.911C>A c.329C>A (p.Ala110Glu) n.864C>A n.886C>A | |
| 16 | g.50710813C= | CA2221859599 | NOD2 | c.821C= (p.Ala274=) c.902C= (p.Ala301=) n.962C= c.398C= (p.Ala133=) c.236C= (p.Ala79=) n.911C= c.329C= (p.Ala110=) n.864C= n.886C= | |
| 16 | g.50710813C>G | CA395867806 | NOD2 | c.821C>G (p.Ala274Gly) c.902C>G (p.Ala301Gly) n.962C>G c.398C>G (p.Ala133Gly) c.236C>G (p.Ala79Gly) n.911C>G c.329C>G (p.Ala110Gly) n.864C>G n.886C>G | |
| 16 | g.50710813C>T | CA150351 | NOD2 | c.821C>T (p.Ala274Val) c.902C>T (p.Ala301Val) n.962C>T c.398C>T (p.Ala133Val) c.236C>T (p.Ala79Val) n.911C>T c.329C>T (p.Ala110Val) n.864C>T n.886C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50710814G>A | CA8051421 | NOD2 | c.822G>A (p.Ala274=) c.903G>A (p.Ala301=) n.963G>A c.399G>A (p.Ala133=) c.237G>A (p.Ala79=) n.912G>A c.330G>A (p.Ala110=) n.865G>A n.887G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.50710814G>C | CA495778195 | NOD2 | c.822G>C (p.Ala274=) c.903G>C (p.Ala301=) n.963G>C c.399G>C (p.Ala133=) c.237G>C (p.Ala79=) n.912G>C c.330G>C (p.Ala110=) n.865G>C n.887G>C | |
| 16 | g.50710814G= | CA2221859608 | NOD2 | c.822G= (p.Ala274=) c.903G= (p.Ala301=) n.963G= c.399G= (p.Ala133=) c.237G= (p.Ala79=) n.912G= c.330G= (p.Ala110=) n.865G= n.887G= | |
| 16 | g.50710814G>T | CA495778196 | NOD2 | c.822G>T (p.Ala274=) c.903G>T (p.Ala301=) n.963G>T c.399G>T (p.Ala133=) c.237G>T (p.Ala79=) n.912G>T c.330G>T (p.Ala110=) n.865G>T n.887G>T | |
| 16 | g.50710816del | CA2573152310 | NOD2 | c.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 |
| 16 | g.50710815G>A | CA395867807 | NOD2 | c.823G>A (p.Gly275Ser) c.904G>A (p.Gly302Ser) n.964G>A c.400G>A (p.Gly134Ser) c.238G>A (p.Gly80Ser) n.913G>A c.331G>A (p.Gly111Ser) n.866G>A n.888G>A | |
| 16 | g.50710815G>C | CA395867808 | NOD2 | c.823G>C (p.Gly275Arg) c.904G>C (p.Gly302Arg) n.964G>C c.400G>C (p.Gly134Arg) c.238G>C (p.Gly80Arg) n.913G>C c.331G>C (p.Gly111Arg) n.866G>C n.888G>C | |
| 16 | g.50710815G>T | CA395867809 | NOD2 | c.823G>T (p.Gly275Cys) c.904G>T (p.Gly302Cys) n.964G>T c.400G>T (p.Gly134Cys) c.238G>T (p.Gly80Cys) n.913G>T c.331G>T (p.Gly111Cys) n.866G>T n.888G>T | |
| 16 | g.50710816G>A | CA395867810 | NOD2 | c.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 |
| 16 | g.50710816G>C | CA395867811 | NOD2 | c.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 | |
| 16 | g.50710816G>T | CA395867812 | NOD2 | c.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 | |
| 16 | g.50710817C>A | CA495778197 | NOD2 | c.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 | |
| 16 | g.50710817C>G | CA495778198 | NOD2 | c.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 | |
| 16 | g.50710817C>T | CA495778199 | NOD2 | c.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 |
| 16 | g.50710818A>C | CA395867813 | NOD2 | c.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 | |
| 16 | g.50710818A>G | CA395867815 | NOD2 | c.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 | |
| 16 | g.50710818A>T | CA395867814 | NOD2 | c.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 | |
| 16 | g.50710819G>A | CA395867816 | NOD2 | c.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 |
| 16 | g.50710819G>C | CA395867817 | NOD2 | c.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 | |
| 16 | g.50710819G>T | CA395867818 | NOD2 | c.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 | |
| 16 | g.50710820T>A | CA395867819 | NOD2 | c.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 | |
| 16 | g.50710820T>C | CA495778203 | NOD2 | c.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 | |
| 16 | g.50710820T>G | CA395867820 | NOD2 | c.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 | |
| 16 | g.50710821G>A | CA395867821 | NOD2 | c.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 | |
| 16 | g.50710821G>C | CA395867822 | NOD2 | c.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 | |
| 16 | g.50710821G>T | CA395867823 | NOD2 | c.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 | |
| 16 | g.50710822G>A | CA395867824 | NOD2 | c.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 | |
| 16 | g.50710822G>C | CA395867825 | NOD2 | c.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 | |
| 16 | g.50710822G>T | CA395867826 | NOD2 | c.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 | |
| 16 | g.50710823C>A | CA495778207 | NOD2 | c.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 |
| 16 | g.50710823C>G | CA495778208 | NOD2 | c.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 | |
| 16 | g.50710823C>T | CA495778211 | NOD2 | c.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 | |
| 16 | g.50710824A>C | CA395867829 | NOD2 | c.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 | |
| 16 | g.50710824A>G | CA395867828 | NOD2 | c.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 | |
| 16 | g.50710824A>T | CA395867827 | NOD2 | c.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 | |
| 16 | g.50710825A>C | CA395867830 | NOD2 | c.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 | |
| 16 | g.50710825A>G | CA395867832 | NOD2 | c.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 | |
| 16 | g.50710825A>T | CA395867831 | NOD2 | c.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 | |
| 16 | g.50710826G>A | CA8051422 | NOD2 | c.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 |
| 16 | g.50710826G>C | CA395867833 | NOD2 | c.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 | |
| 16 | g.50710826G= | CA2221859619 | NOD2 | c.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= | |
| 16 | g.50710826G>T | CA395867834 | NOD2 | c.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 |