| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.22661024del | CA16621559 | C1QB | c.394del (p.Leu132CysfsTer12) c.420del (p.Cys141AlafsTer20) c.501del (p.Cys168AlafsTer20) c.472del (p.Leu158CysfsTer12) c.459del (p.Cys154AlafsTer20) c.385del (p.Leu129CysfsTer12) c.*563del (n.*563del) c.400del (p.Leu134CysfsTer12) | ClinVar dbSNP |
| 1 | g.22661024C>A | CA338947192 | C1QB | c.394C>A (p.Leu132Met) c.420C>A (p.Pro140=) c.501C>A (p.Pro167=) c.472C>A (p.Leu158Met) c.459C>A (p.Pro153=) c.385C>A (p.Leu129Met) c.*563C>A (n.*563C>A) c.400C>A (p.Leu134Met) | |
| 1 | g.22661024C>G | CA338947194 | C1QB | c.394C>G (p.Leu132Val) c.420C>G (p.Pro140=) c.501C>G (p.Pro167=) c.472C>G (p.Leu158Val) c.459C>G (p.Pro153=) c.385C>G (p.Leu129Val) c.*563C>G (n.*563C>G) c.400C>G (p.Leu134Val) | |
| 1 | g.22661024C>T | CA416684319 | C1QB | c.394C>T (p.Leu132=) c.420C>T (p.Pro140=) c.501C>T (p.Pro167=) c.472C>T (p.Leu158=) c.459C>T (p.Pro153=) c.385C>T (p.Leu129=) c.*563C>T (n.*563C>T) c.400C>T (p.Leu134=) | COSMIC |
| 1 | g.22661025T>A | CA338947206 | C1QB | c.395T>A (p.Leu132Gln) c.421T>A (p.Cys141Ser) c.502T>A (p.Cys168Ser) c.473T>A (p.Leu158Gln) c.460T>A (p.Cys154Ser) c.386T>A (p.Leu129Gln) c.*564T>A (n.*564T>A) c.401T>A (p.Leu134Gln) | |
| 1 | g.22661025T>C | CA338947205 | C1QB | c.395T>C (p.Leu132Pro) c.421T>C (p.Cys141Arg) c.502T>C (p.Cys168Arg) c.473T>C (p.Leu158Pro) c.460T>C (p.Cys154Arg) c.386T>C (p.Leu129Pro) c.*564T>C (n.*564T>C) c.401T>C (p.Leu134Pro) | |
| 1 | g.22661025T>G | CA338947204 | C1QB | c.395T>G (p.Leu132Arg) c.421T>G (p.Cys141Gly) c.502T>G (p.Cys168Gly) c.473T>G (p.Leu158Arg) c.460T>G (p.Cys154Gly) c.386T>G (p.Leu129Arg) c.*564T>G (n.*564T>G) c.401T>G (p.Leu134Arg) | |
| 1 | g.22661026G>A | CA416684326 | C1QB | c.396G>A (p.Leu132=) c.422G>A (p.Cys141Tyr) c.503G>A (p.Cys168Tyr) c.474G>A (p.Leu158=) c.461G>A (p.Cys154Tyr) c.387G>A (p.Leu129=) c.*565G>A (n.*565G>A) c.402G>A (p.Leu134=) | |
| 1 | g.22661026G>C | CA416684323 | C1QB | c.396G>C (p.Leu132=) c.422G>C (p.Cys141Ser) c.503G>C (p.Cys168Ser) c.474G>C (p.Leu158=) c.461G>C (p.Cys154Ser) c.387G>C (p.Leu129=) c.*565G>C (n.*565G>C) c.402G>C (p.Leu134=) | |
| 1 | g.22661026G>T | CA416684325 | C1QB | c.396G>T (p.Leu132=) c.422G>T (p.Cys141Phe) c.503G>T (p.Cys168Phe) c.474G>T (p.Leu158=) c.461G>T (p.Cys154Phe) c.387G>T (p.Leu129=) c.*565G>T (n.*565G>T) c.402G>T (p.Leu134=) | |
| 1 | g.22661027C>A | CA338947209 | C1QB | c.397C>A (p.Arg133Ser) c.423C>A (p.Cys141Ter) c.504C>A (p.Cys168Ter) c.475C>A (p.Arg159Ser) c.462C>A (p.Cys154Ter) c.388C>A (p.Arg130Ser) c.*566C>A (n.*566C>A) c.403C>A (p.Arg135Ser) | gnomAD v4 |
| 1 | g.22661027C= | CA1158487000 | C1QB | c.397C= (p.Arg133=) c.423C= (p.Cys141=) c.504C= (p.Cys168=) c.475C= (p.Arg159=) c.462C= (p.Cys154=) c.388C= (p.Arg130=) c.*566C= (n.*566C=) c.403C= (p.Arg135=) | |
| 1 | g.22661027C>G | CA338947210 | C1QB | c.397C>G (p.Arg133Gly) c.423C>G (p.Cys141Trp) c.504C>G (p.Cys168Trp) c.475C>G (p.Arg159Gly) c.462C>G (p.Cys154Trp) c.388C>G (p.Arg130Gly) c.*566C>G (n.*566C>G) c.403C>G (p.Arg135Gly) | |
| 1 | g.22661027C>T | CA338947212 | C1QB | c.397C>T (p.Arg133Cys) c.423C>T (p.Cys141=) c.504C>T (p.Cys168=) c.475C>T (p.Arg159Cys) c.462C>T (p.Cys154=) c.388C>T (p.Arg130Cys) c.*566C>T (n.*566C>T) c.403C>T (p.Arg135Cys) | dbSNP gnomAD v4 |
| 1 | g.22661028G>A | CA678155 | C1QB | c.398G>A (p.Arg133His) c.424G>A (p.Ala142Thr) c.505G>A (p.Ala169Thr) c.476G>A (p.Arg159His) c.463G>A (p.Ala155Thr) c.389G>A (p.Arg130His) c.*567G>A (n.*567G>A) c.404G>A (p.Arg135His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22661028G>C | CA338947218 | C1QB | c.398G>C (p.Arg133Pro) c.424G>C (p.Ala142Pro) c.505G>C (p.Ala169Pro) c.476G>C (p.Arg159Pro) c.463G>C (p.Ala155Pro) c.389G>C (p.Arg130Pro) c.*567G>C (n.*567G>C) c.404G>C (p.Arg135Pro) | |
| 1 | g.22661028G= | CA1158487001 | C1QB | c.398G= (p.Arg133=) c.424G= (p.Ala142=) c.505G= (p.Ala169=) c.476G= (p.Arg159=) c.463G= (p.Ala155=) c.389G= (p.Arg130=) c.*567G= (n.*567G=) c.404G= (p.Arg135=) | |
| 1 | g.22661028G>T | CA338947221 | C1QB | c.398G>T (p.Arg133Leu) c.424G>T (p.Ala142Ser) c.505G>T (p.Ala169Ser) c.476G>T (p.Arg159Leu) c.463G>T (p.Ala155Ser) c.389G>T (p.Arg130Leu) c.*567G>T (n.*567G>T) c.404G>T (p.Arg135Leu) | gnomAD v4 |
| 1 | g.22661029C>A | CA416684327 | C1QB | c.399C>A (p.Arg133=) c.425C>A (p.Ala142Asp) c.506C>A (p.Ala169Asp) c.477C>A (p.Arg159=) c.464C>A (p.Ala155Asp) c.390C>A (p.Arg130=) c.*568C>A (n.*568C>A) c.405C>A (p.Arg135=) | gnomAD v4 |
| 1 | g.22661029C>G | CA416684328 | C1QB | c.399C>G (p.Arg133=) c.425C>G (p.Ala142Gly) c.506C>G (p.Ala169Gly) c.477C>G (p.Arg159=) c.464C>G (p.Ala155Gly) c.390C>G (p.Arg130=) c.*568C>G (n.*568C>G) c.405C>G (p.Arg135=) | |
| 1 | g.22661029C>T | CA416684331 | C1QB | c.399C>T (p.Arg133=) c.425C>T (p.Ala142Val) c.506C>T (p.Ala169Val) c.477C>T (p.Arg159=) c.464C>T (p.Ala155Val) c.390C>T (p.Arg130=) c.*568C>T (n.*568C>T) c.405C>T (p.Arg135=) | |
| 1 | g.22661030C>A | CA416684334 | C1QB | c.400C>A (p.Arg134=) c.426C>A (p.Ala142=) c.507C>A (p.Ala169=) c.478C>A (p.Arg160=) c.465C>A (p.Ala155=) c.391C>A (p.Arg131=) c.*569C>A (n.*569C>A) c.406C>A (p.Arg136=) | |
| 1 | g.22661030C= | CA1142279538 | C1QB | c.400C= (p.Arg134=) c.426C= (p.Ala142=) c.507C= (p.Ala169=) c.478C= (p.Arg160=) c.465C= (p.Ala155=) c.391C= (p.Arg131=) c.*569C= (n.*569C=) c.406C= (p.Arg136=) | |
| 1 | g.22661030C>G | CA338947237 | C1QB | c.400C>G (p.Arg134Gly) c.426C>G (p.Ala142=) c.507C>G (p.Ala169=) c.478C>G (p.Arg160Gly) c.465C>G (p.Ala155=) c.391C>G (p.Arg131Gly) c.*569C>G (n.*569C>G) c.406C>G (p.Arg136Gly) | |
| 1 | g.22661030C>T | CA678156 | C1QB | c.400C>T (p.Arg134Trp) c.426C>T (p.Ala142=) c.507C>T (p.Ala169=) c.478C>T (p.Arg160Trp) c.465C>T (p.Ala155=) c.391C>T (p.Arg131Trp) c.*569C>T (n.*569C>T) c.406C>T (p.Arg136Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22661031G>A | CA678157 | C1QB | c.401G>A (p.Arg134Gln) c.427G>A (p.Gly143Arg) c.508G>A (p.Gly170Arg) c.479G>A (p.Arg160Gln) c.466G>A (p.Gly156Arg) c.392G>A (p.Arg131Gln) c.*570G>A (n.*570G>A) c.407G>A (p.Arg136Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.22661031G>C | CA19188081 | C1QB | c.401G>C (p.Arg134Pro) c.427G>C (p.Gly143Arg) c.508G>C (p.Gly170Arg) c.479G>C (p.Arg160Pro) c.466G>C (p.Gly156Arg) c.392G>C (p.Arg131Pro) c.*570G>C (n.*570G>C) c.407G>C (p.Arg136Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22661031G= | CA1143368335 | C1QB | c.401G= (p.Arg134=) c.427G= (p.Gly143=) c.508G= (p.Gly170=) c.479G= (p.Arg160=) c.466G= (p.Gly156=) c.392G= (p.Arg131=) c.*570G= (n.*570G=) c.407G= (p.Arg136=) | |
| 1 | g.22661031G>T | CA338947244 | C1QB | c.401G>T (p.Arg134Leu) c.427G>T (p.Gly143Trp) c.508G>T (p.Gly170Trp) c.479G>T (p.Arg160Leu) c.466G>T (p.Gly156Trp) c.392G>T (p.Arg131Leu) c.*570G>T (n.*570G>T) c.407G>T (p.Arg136Leu) | |
| 1 | g.22661032G>A | CA416684343 | C1QB | c.402G>A (p.Arg134=) c.428G>A (p.Gly143Glu) c.509G>A (p.Gly170Glu) c.480G>A (p.Arg160=) c.467G>A (p.Gly156Glu) c.393G>A (p.Arg131=) c.*571G>A (n.*571G>A) c.408G>A (p.Arg136=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.22661032G>C | CA416684344 | C1QB | c.402G>C (p.Arg134=) c.428G>C (p.Gly143Ala) c.509G>C (p.Gly170Ala) c.480G>C (p.Arg160=) c.467G>C (p.Gly156Ala) c.393G>C (p.Arg131=) c.*571G>C (n.*571G>C) c.408G>C (p.Arg136=) | |
| 1 | g.22661032G= | CA1158487002 | C1QB | c.402G= (p.Arg134=) c.428G= (p.Gly143=) c.509G= (p.Gly170=) c.480G= (p.Arg160=) c.467G= (p.Gly156=) c.393G= (p.Arg131=) c.*571G= (n.*571G=) c.408G= (p.Arg136=) | |
| 1 | g.22661032G>T | CA416684345 | C1QB | c.402G>T (p.Arg134=) c.428G>T (p.Gly143Val) c.509G>T (p.Gly170Val) c.480G>T (p.Arg160=) c.467G>T (p.Gly156Val) c.393G>T (p.Arg131=) c.*571G>T (n.*571G>T) c.408G>T (p.Arg136=) | |
| 1 | g.22661033G>A | CA338947248 | C1QB | c.403G>A (p.Asp135Asn) c.429G>A (p.Gly143=) c.510G>A (p.Gly170=) c.481G>A (p.Asp161Asn) c.468G>A (p.Gly156=) c.394G>A (p.Asp132Asn) c.*572G>A (n.*572G>A) c.409G>A (p.Asp137Asn) | |
| 1 | g.22661033G>C | CA338947251 | C1QB | c.403G>C (p.Asp135His) c.429G>C (p.Gly143=) c.510G>C (p.Gly170=) c.481G>C (p.Asp161His) c.468G>C (p.Gly156=) c.394G>C (p.Asp132His) c.*572G>C (n.*572G>C) c.409G>C (p.Asp137His) | |
| 1 | g.22661033G>T | CA338947253 | C1QB | c.403G>T (p.Asp135Tyr) c.429G>T (p.Gly143=) c.510G>T (p.Gly170=) c.481G>T (p.Asp161Tyr) c.468G>T (p.Gly156=) c.394G>T (p.Asp132Tyr) c.*572G>T (n.*572G>T) c.409G>T (p.Asp137Tyr) | |
| 1 | g.22661034A= | CA1158487003 | C1QB | c.404A= (p.Asp135=) c.430A= (p.Thr144=) c.511A= (p.Thr171=) c.482A= (p.Asp161=) c.469A= (p.Thr157=) c.395A= (p.Asp132=) c.*573A= (n.*573A=) c.410A= (p.Asp137=) | |
| 1 | g.22661034A>C | CA338947266 | C1QB | c.404A>C (p.Asp135Ala) c.430A>C (p.Thr144Pro) c.511A>C (p.Thr171Pro) c.482A>C (p.Asp161Ala) c.469A>C (p.Thr157Pro) c.395A>C (p.Asp132Ala) c.*573A>C (n.*573A>C) c.410A>C (p.Asp137Ala) | dbSNP |
| 1 | g.22661034A>G | CA338947255 | C1QB | c.404A>G (p.Asp135Gly) c.430A>G (p.Thr144Ala) c.511A>G (p.Thr171Ala) c.482A>G (p.Asp161Gly) c.469A>G (p.Thr157Ala) c.395A>G (p.Asp132Gly) c.*573A>G (n.*573A>G) c.410A>G (p.Asp137Gly) | |
| 1 | g.22661034A>T | CA338947259 | C1QB | c.404A>T (p.Asp135Val) c.430A>T (p.Thr144Ser) c.511A>T (p.Thr171Ser) c.482A>T (p.Asp161Val) c.469A>T (p.Thr157Ser) c.395A>T (p.Asp132Val) c.*573A>T (n.*573A>T) c.410A>T (p.Asp137Val) | |
| 1 | g.22661035C>A | CA338947270 | C1QB | c.405C>A (p.Asp135Glu) c.431C>A (p.Thr144Asn) c.512C>A (p.Thr171Asn) c.483C>A (p.Asp161Glu) c.470C>A (p.Thr157Asn) c.396C>A (p.Asp132Glu) c.*574C>A (n.*574C>A) c.411C>A (p.Asp137Glu) | |
| 1 | g.22661035C= | CA1158487004 | C1QB | c.405C= (p.Asp135=) c.431C= (p.Thr144=) c.512C= (p.Thr171=) c.483C= (p.Asp161=) c.470C= (p.Thr157=) c.396C= (p.Asp132=) c.*574C= (n.*574C=) c.411C= (p.Asp137=) | |
| 1 | g.22661035C>G | CA338947273 | C1QB | c.405C>G (p.Asp135Glu) c.431C>G (p.Thr144Ser) c.512C>G (p.Thr171Ser) c.483C>G (p.Asp161Glu) c.470C>G (p.Thr157Ser) c.396C>G (p.Asp132Glu) c.*574C>G (n.*574C>G) c.411C>G (p.Asp137Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.22661035C>T | CA416684353 | C1QB | c.405C>T (p.Asp135=) c.431C>T (p.Thr144Ile) c.512C>T (p.Thr171Ile) c.483C>T (p.Asp161=) c.470C>T (p.Thr157Ile) c.396C>T (p.Asp132=) c.*574C>T (n.*574C>T) c.411C>T (p.Asp137=) | |
| 1 | g.22661036C>A | CA338947277 | C1QB | c.406C>A (p.Gln136Lys) c.432C>A (p.Thr144=) c.513C>A (p.Thr171=) c.484C>A (p.Gln162Lys) c.471C>A (p.Thr157=) c.397C>A (p.Gln133Lys) c.*575C>A (n.*575C>A) c.412C>A (p.Gln138Lys) | |
| 1 | g.22661036C>G | CA338947281 | C1QB | c.406C>G (p.Gln136Glu) c.432C>G (p.Thr144=) c.513C>G (p.Thr171=) c.484C>G (p.Gln162Glu) c.471C>G (p.Thr157=) c.397C>G (p.Gln133Glu) c.*575C>G (n.*575C>G) c.412C>G (p.Gln138Glu) | |
| 1 | g.22661036C>T | CA338947284 | C1QB | c.406C>T (p.Gln136Ter) c.432C>T (p.Thr144=) c.513C>T (p.Thr171=) c.484C>T (p.Gln162Ter) c.471C>T (p.Thr157=) c.397C>T (p.Gln133Ter) c.*575C>T (n.*575C>T) c.412C>T (p.Gln138Ter) | |
| 1 | g.22661037A>C | CA338947285 | C1QB | c.407A>C (p.Gln136Pro) c.433A>C (p.Arg145=) c.514A>C (p.Arg172=) c.485A>C (p.Gln162Pro) c.472A>C (p.Arg158=) c.398A>C (p.Gln133Pro) c.*576A>C (n.*576A>C) c.413A>C (p.Gln138Pro) | |
| 1 | g.22661037A>G | CA338947289 | C1QB | c.407A>G (p.Gln136Arg) c.433A>G (p.Arg145Gly) c.514A>G (p.Arg172Gly) c.485A>G (p.Gln162Arg) c.472A>G (p.Arg158Gly) c.398A>G (p.Gln133Arg) c.*576A>G (n.*576A>G) c.413A>G (p.Gln138Arg) | |
| 1 | g.22661037A>T | CA338947290 | C1QB | c.407A>T (p.Gln136Leu) c.433A>T (p.Arg145Ter) c.514A>T (p.Arg172Ter) c.485A>T (p.Gln162Leu) c.472A>T (p.Arg158Ter) c.398A>T (p.Gln133Leu) c.*576A>T (n.*576A>T) c.413A>T (p.Gln138Leu) |