OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.22660900_22660953del | CA678131 | C1QB | c.270_323del (p.Gly91_Lys108del) c.296_349del (p.Arg99_Pro116del) c.377_430del (p.Arg126_Pro143del) c.348_401del (p.Gly117_Lys134del) c.335_388del (p.Arg112_Pro129del) c.261_314del (p.Gly88_Lys105del) c.*439_*492del (n.*439_*492del) c.276_329del (p.Gly93_Lys110del) | ExAC gnomAD v4 |
| 1 | g.22660902_22660947del | CA2644011871 | C1QB | c.272_317del (p.Gly91AlafsTer?) c.298_343del (p.Ala100ProfsTer4) c.379_424del (p.Ala127ProfsTer4) c.350_395del (p.Gly117AlafsTer?) c.337_382del (p.Ala113ProfsTer4) c.263_308del (p.Gly88AlafsTer?) c.*441_*486del (n.*441_*486del) c.278_323del (p.Gly93AlafsTer?) | gnomAD v4 |
| 1 | g.22660927_22660934del | CA678135 | C1QB | c.297_304del (p.Gly100TrpfsTer8) c.323_330del (p.Gln108ProfsTer?) c.404_411del (p.Gln135ProfsTer?) c.375_382del (p.Gly126TrpfsTer8) c.362_369del (p.Gln121ProfsTer?) c.288_295del (p.Gly97TrpfsTer8) c.*466_*473del (n.*466_*473del) c.303_310del (p.Gly102TrpfsTer8) | dbSNP ExAC gnomAD v2 |
| 1 | g.22660931G>A | CA338946380 | C1QB | c.301G>A (p.Ala101Thr) c.327G>A (p.Gly109=) c.408G>A (p.Gly136=) c.379G>A (p.Ala127Thr) c.366G>A (p.Gly122=) c.292G>A (p.Ala98Thr) c.*470G>A (n.*470G>A) c.307G>A (p.Ala103Thr) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.22660931G>C | CA338946387 | C1QB | c.301G>C (p.Ala101Pro) c.327G>C (p.Gly109=) c.408G>C (p.Gly136=) c.379G>C (p.Ala127Pro) c.366G>C (p.Gly122=) c.292G>C (p.Ala98Pro) c.*470G>C (n.*470G>C) c.307G>C (p.Ala103Pro) | gnomAD v4 |
| 1 | g.22660931G= | CA1158486968 | C1QB | c.301G= (p.Ala101=) c.327G= (p.Gly109=) c.408G= (p.Gly136=) c.379G= (p.Ala127=) c.366G= (p.Gly122=) c.292G= (p.Ala98=) c.*470G= (n.*470G=) c.307G= (p.Ala103=) | |
| 1 | g.22660931G>T | CA338946389 | C1QB | c.301G>T (p.Ala101Ser) c.327G>T (p.Gly109=) c.408G>T (p.Gly136=) c.379G>T (p.Ala127Ser) c.366G>T (p.Gly122=) c.292G>T (p.Ala98Ser) c.*470G>T (n.*470G>T) c.307G>T (p.Ala103Ser) | gnomAD v4 |
| 1 | g.22660932C>A | CA338946392 | C1QB | c.302C>A (p.Ala101Asp) c.328C>A (p.Pro110Thr) c.409C>A (p.Pro137Thr) c.380C>A (p.Ala127Asp) c.367C>A (p.Pro123Thr) c.293C>A (p.Ala98Asp) c.*471C>A (n.*471C>A) c.308C>A (p.Ala103Asp) | |
| 1 | g.22660932C= | CA1158486969 | C1QB | c.302C= (p.Ala101=) c.328C= (p.Pro110=) c.409C= (p.Pro137=) c.380C= (p.Ala127=) c.367C= (p.Pro123=) c.293C= (p.Ala98=) c.*471C= (n.*471C=) c.308C= (p.Ala103=) | |
| 1 | g.22660932C>G | CA338946393 | C1QB | c.302C>G (p.Ala101Gly) c.328C>G (p.Pro110Ala) c.409C>G (p.Pro137Ala) c.380C>G (p.Ala127Gly) c.367C>G (p.Pro123Ala) c.293C>G (p.Ala98Gly) c.*471C>G (n.*471C>G) c.308C>G (p.Ala103Gly) | |
| 1 | g.22660932C>T | CA338946394 | C1QB | c.302C>T (p.Ala101Val) c.328C>T (p.Pro110Ser) c.409C>T (p.Pro137Ser) c.380C>T (p.Ala127Val) c.367C>T (p.Pro123Ser) c.293C>T (p.Ala98Val) c.*471C>T (n.*471C>T) c.308C>T (p.Ala103Val) | dbSNP gnomAD v4 |
| 1 | g.22660933C>A | CA416684126 | C1QB | c.303C>A (p.Ala101=) c.329C>A (p.Pro110His) c.410C>A (p.Pro137His) c.381C>A (p.Ala127=) c.368C>A (p.Pro123His) c.294C>A (p.Ala98=) c.*472C>A (n.*472C>A) c.309C>A (p.Ala103=) | |
| 1 | g.22660933C>G | CA416684127 | C1QB | c.303C>G (p.Ala101=) c.329C>G (p.Pro110Arg) c.410C>G (p.Pro137Arg) c.381C>G (p.Ala127=) c.368C>G (p.Pro123Arg) c.294C>G (p.Ala98=) c.*472C>G (n.*472C>G) c.309C>G (p.Ala103=) | |
| 1 | g.22660933C>T | CA416684128 | C1QB | c.303C>T (p.Ala101=) c.329C>T (p.Pro110Leu) c.410C>T (p.Pro137Leu) c.381C>T (p.Ala127=) c.368C>T (p.Pro123Leu) c.294C>T (p.Ala98=) c.*472C>T (n.*472C>T) c.309C>T (p.Ala103=) | |
| 1 | g.22660934C>A | CA338946395 | C1QB | c.304C>A (p.Pro102Thr) c.330C>A (p.Pro110=) c.411C>A (p.Pro137=) c.382C>A (p.Pro128Thr) c.369C>A (p.Pro123=) c.295C>A (p.Pro99Thr) c.*473C>A (n.*473C>A) c.310C>A (p.Pro104Thr) | |
| 1 | g.22660934C= | CA1158486970 | C1QB | c.304C= (p.Pro102=) c.330C= (p.Pro110=) c.411C= (p.Pro137=) c.382C= (p.Pro128=) c.369C= (p.Pro123=) c.295C= (p.Pro99=) c.*473C= (n.*473C=) c.310C= (p.Pro104=) | |
| 1 | g.22660934C>G | CA338946396 | C1QB | c.304C>G (p.Pro102Ala) c.330C>G (p.Pro110=) c.411C>G (p.Pro137=) c.382C>G (p.Pro128Ala) c.369C>G (p.Pro123=) c.295C>G (p.Pro99Ala) c.*473C>G (n.*473C>G) c.310C>G (p.Pro104Ala) | |
| 1 | g.22660934C>T | CA678137 | C1QB | c.304C>T (p.Pro102Ser) c.330C>T (p.Pro110=) c.411C>T (p.Pro137=) c.382C>T (p.Pro128Ser) c.369C>T (p.Pro123=) c.295C>T (p.Pro99Ser) c.*473C>T (n.*473C>T) c.310C>T (p.Pro104Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.22660935C>A | CA678138 | C1QB | c.305C>A (p.Pro102His) c.331C>A (p.Leu111Met) c.412C>A (p.Leu138Met) c.383C>A (p.Pro128His) c.370C>A (p.Leu124Met) c.296C>A (p.Pro99His) c.*474C>A (n.*474C>A) c.311C>A (p.Pro104His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.22660935C= | CA1158486971 | C1QB | c.305C= (p.Pro102=) c.331C= (p.Leu111=) c.412C= (p.Leu138=) c.383C= (p.Pro128=) c.370C= (p.Leu124=) c.296C= (p.Pro99=) c.*474C= (n.*474C=) c.311C= (p.Pro104=) | |
| 1 | g.22660935C>G | CA338946400 | C1QB | c.305C>G (p.Pro102Arg) c.331C>G (p.Leu111Val) c.412C>G (p.Leu138Val) c.383C>G (p.Pro128Arg) c.370C>G (p.Leu124Val) c.296C>G (p.Pro99Arg) c.*474C>G (n.*474C>G) c.311C>G (p.Pro104Arg) | dbSNP gnomAD v4 |
| 1 | g.22660935C>T | CA338946402 | C1QB | c.305C>T (p.Pro102Leu) c.331C>T (p.Leu111=) c.412C>T (p.Leu138=) c.383C>T (p.Pro128Leu) c.370C>T (p.Leu124=) c.296C>T (p.Pro99Leu) c.*474C>T (n.*474C>T) c.311C>T (p.Pro104Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.22660936T>A | CA416684134 | C1QB | c.306T>A (p.Pro102=) c.332T>A (p.Leu111Gln) c.413T>A (p.Leu138Gln) c.384T>A (p.Pro128=) c.371T>A (p.Leu124Gln) c.297T>A (p.Pro99=) c.*475T>A (n.*475T>A) c.312T>A (p.Pro104=) | |
| 1 | g.22660936T>C | CA416684135 | C1QB | c.306T>C (p.Pro102=) c.332T>C (p.Leu111Pro) c.413T>C (p.Leu138Pro) c.384T>C (p.Pro128=) c.371T>C (p.Leu124Pro) c.297T>C (p.Pro99=) c.*475T>C (n.*475T>C) c.312T>C (p.Pro104=) | |
| 1 | g.22660936T>G | CA416684136 | C1QB | c.306T>G (p.Pro102=) c.332T>G (p.Leu111Arg) c.413T>G (p.Leu138Arg) c.384T>G (p.Pro128=) c.371T>G (p.Leu124Arg) c.297T>G (p.Pro99=) c.*475T>G (n.*475T>G) c.312T>G (p.Pro104=) | |
| 1 | g.22660937G>A | CA338946406 | C1QB | c.307G>A (p.Gly103Arg) c.333G>A (p.Leu111=) c.414G>A (p.Leu138=) c.385G>A (p.Gly129Arg) c.372G>A (p.Leu124=) c.298G>A (p.Gly100Arg) c.*476G>A (n.*476G>A) c.313G>A (p.Gly105Arg) | |
| 1 | g.22660937G>C | CA338946417 | C1QB | c.307G>C (p.Gly103Arg) c.333G>C (p.Leu111=) c.414G>C (p.Leu138=) c.385G>C (p.Gly129Arg) c.372G>C (p.Leu124=) c.298G>C (p.Gly100Arg) c.*476G>C (n.*476G>C) c.313G>C (p.Gly105Arg) | |
| 1 | g.22660937G>T | CA338946423 | C1QB | c.307G>T (p.Gly103Ter) c.333G>T (p.Leu111=) c.414G>T (p.Leu138=) c.385G>T (p.Gly129Ter) c.372G>T (p.Leu124=) c.298G>T (p.Gly100Ter) c.*476G>T (n.*476G>T) c.313G>T (p.Gly105Ter) | |
| 1 | g.22660938G>A | CA338946429 | C1QB | c.308G>A (p.Gly103Glu) c.334G>A (p.Glu112Lys) c.415G>A (p.Glu139Lys) c.386G>A (p.Gly129Glu) c.373G>A (p.Glu125Lys) c.299G>A (p.Gly100Glu) c.*477G>A (n.*477G>A) c.314G>A (p.Gly105Glu) | COSMIC |
| 1 | g.22660938G>C | CA338946433 | C1QB | c.308G>C (p.Gly103Ala) c.334G>C (p.Glu112Gln) c.415G>C (p.Glu139Gln) c.386G>C (p.Gly129Ala) c.373G>C (p.Glu125Gln) c.299G>C (p.Gly100Ala) c.*477G>C (n.*477G>C) c.314G>C (p.Gly105Ala) | |
| 1 | g.22660938G>T | CA338946436 | C1QB | c.308G>T (p.Gly103Val) c.334G>T (p.Glu112Ter) c.415G>T (p.Glu139Ter) c.386G>T (p.Gly129Val) c.373G>T (p.Glu125Ter) c.299G>T (p.Gly100Val) c.*477G>T (n.*477G>T) c.314G>T (p.Gly105Val) | |
| 1 | g.22660938_22660939delinsGA | CA1158486972 | C1QB | c.308_309delinsGA (p.Gly103=) c.334_335delinsGA (p.Glu112=) c.415_416delinsGA (p.Glu139=) c.386_387delinsGA (p.Gly129=) c.373_374delinsGA (p.Glu125=) c.299_300delinsGA (p.Gly100=) c.*477_*478delinsGA (n.*477_*478delinsGA) c.314_315delinsGA (p.Gly105=) | |
| 1 | g.22660939del | CA1158486973 | C1QB | c.309del (p.Ala104ProfsTer?) c.335del (p.Glu112GlyfsTer7) c.416del (p.Glu139GlyfsTer7) c.387del (p.Ala130ProfsTer?) c.374del (p.Glu125GlyfsTer7) c.300del (p.Ala101ProfsTer?) c.*478del (n.*478del) c.315del (p.Ala106ProfsTer?) | dbSNP |
| 1 | g.22660939A= | CA1158486974 | C1QB | c.309A= (p.Gly103=) c.335A= (p.Glu112=) c.416A= (p.Glu139=) c.387A= (p.Gly129=) c.374A= (p.Glu125=) c.300A= (p.Gly100=) c.*478A= (n.*478A=) c.315A= (p.Gly105=) | |
| 1 | g.22660939A>C | CA416684141 | C1QB | c.309A>C (p.Gly103=) c.335A>C (p.Glu112Ala) c.416A>C (p.Glu139Ala) c.387A>C (p.Gly129=) c.374A>C (p.Glu125Ala) c.300A>C (p.Gly100=) c.*478A>C (n.*478A>C) c.315A>C (p.Gly105=) | |
| 1 | g.22660939A>G | CA416684142 | C1QB | c.309A>G (p.Gly103=) c.335A>G (p.Glu112Gly) c.416A>G (p.Glu139Gly) c.387A>G (p.Gly129=) c.374A>G (p.Glu125Gly) c.300A>G (p.Gly100=) c.*478A>G (n.*478A>G) c.315A>G (p.Gly105=) | dbSNP |
| 1 | g.22660939A>T | CA19187893 | C1QB | c.309A>T (p.Gly103=) c.335A>T (p.Glu112Val) c.416A>T (p.Glu139Val) c.387A>T (p.Gly129=) c.374A>T (p.Glu125Val) c.300A>T (p.Gly100=) c.*478A>T (n.*478A>T) c.315A>T (p.Gly105=) | dbSNP |
| 1 | g.22660940G>A | CA338946449 | C1QB | c.310G>A (p.Ala104Thr) c.336G>A (p.Glu112=) c.417G>A (p.Glu139=) c.388G>A (p.Ala130Thr) c.375G>A (p.Glu125=) c.301G>A (p.Ala101Thr) c.*479G>A (n.*479G>A) c.316G>A (p.Ala106Thr) | |
| 1 | g.22660940G>C | CA338946452 | C1QB | c.310G>C (p.Ala104Pro) c.336G>C (p.Glu112Asp) c.417G>C (p.Glu139Asp) c.388G>C (p.Ala130Pro) c.375G>C (p.Glu125Asp) c.301G>C (p.Ala101Pro) c.*479G>C (n.*479G>C) c.316G>C (p.Ala106Pro) | |
| 1 | g.22660940G>T | CA338946456 | C1QB | c.310G>T (p.Ala104Ser) c.336G>T (p.Glu112Asp) c.417G>T (p.Glu139Asp) c.388G>T (p.Ala130Ser) c.375G>T (p.Glu125Asp) c.301G>T (p.Ala101Ser) c.*479G>T (n.*479G>T) c.316G>T (p.Ala106Ser) | |
| 1 | g.22660941C>A | CA338946460 | C1QB | c.311C>A (p.Ala104Asp) c.337C>A (p.Pro113Thr) c.418C>A (p.Pro140Thr) c.389C>A (p.Ala130Asp) c.376C>A (p.Pro126Thr) c.302C>A (p.Ala101Asp) c.*480C>A (n.*480C>A) c.317C>A (p.Ala106Asp) | |
| 1 | g.22660941C= | CA1142263641 | C1QB | c.311C= (p.Ala104=) c.337C= (p.Pro113=) c.418C= (p.Pro140=) c.389C= (p.Ala130=) c.376C= (p.Pro126=) c.302C= (p.Ala101=) c.*480C= (n.*480C=) c.317C= (p.Ala106=) | |
| 1 | g.22660941C>G | CA338946462 | C1QB | c.311C>G (p.Ala104Gly) c.337C>G (p.Pro113Ala) c.418C>G (p.Pro140Ala) c.389C>G (p.Ala130Gly) c.376C>G (p.Pro126Ala) c.302C>G (p.Ala101Gly) c.*480C>G (n.*480C>G) c.317C>G (p.Ala106Gly) | |
| 1 | g.22660941C>T | CA678139 | C1QB | c.311C>T (p.Ala104Val) c.337C>T (p.Pro113Ser) c.418C>T (p.Pro140Ser) c.389C>T (p.Ala130Val) c.376C>T (p.Pro126Ser) c.302C>T (p.Ala101Val) c.*480C>T (n.*480C>T) c.317C>T (p.Ala106Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22660942C>A | CA416684148 | C1QB | c.312C>A (p.Ala104=) c.338C>A (p.Pro113His) c.419C>A (p.Pro140His) c.390C>A (p.Ala130=) c.377C>A (p.Pro126His) c.303C>A (p.Ala101=) c.*481C>A (n.*481C>A) c.318C>A (p.Ala106=) | dbSNP |
| 1 | g.22660942C= | CA1158486975 | C1QB | c.312C= (p.Ala104=) c.338C= (p.Pro113=) c.419C= (p.Pro140=) c.390C= (p.Ala130=) c.377C= (p.Pro126=) c.303C= (p.Ala101=) c.*481C= (n.*481C=) c.318C= (p.Ala106=) | |
| 1 | g.22660942C>G | CA416684145 | C1QB | c.312C>G (p.Ala104=) c.338C>G (p.Pro113Arg) c.419C>G (p.Pro140Arg) c.390C>G (p.Ala130=) c.377C>G (p.Pro126Arg) c.303C>G (p.Ala101=) c.*481C>G (n.*481C>G) c.318C>G (p.Ala106=) | |
| 1 | g.22660942C>T | CA416684147 | C1QB | c.312C>T (p.Ala104=) c.338C>T (p.Pro113Leu) c.419C>T (p.Pro140Leu) c.390C>T (p.Ala130=) c.377C>T (p.Pro126Leu) c.303C>T (p.Ala101=) c.*481C>T (n.*481C>T) c.318C>T (p.Ala106=) | |
| 1 | g.22660943C>A | CA338946493 | C1QB | c.313C>A (p.Pro105Thr) c.339C>A (p.Pro113=) c.420C>A (p.Pro140=) c.391C>A (p.Pro131Thr) c.378C>A (p.Pro126=) c.304C>A (p.Pro102Thr) c.*482C>A (n.*482C>A) c.319C>A (p.Pro107Thr) | COSMIC |
| 1 | g.22660943C= | CA1158486976 | C1QB | c.313C= (p.Pro105=) c.339C= (p.Pro113=) c.420C= (p.Pro140=) c.391C= (p.Pro131=) c.378C= (p.Pro126=) c.304C= (p.Pro102=) c.*482C= (n.*482C=) c.319C= (p.Pro107=) | |
| 1 | g.22660943C>G | CA338946478 | C1QB | c.313C>G (p.Pro105Ala) c.339C>G (p.Pro113=) c.420C>G (p.Pro140=) c.391C>G (p.Pro131Ala) c.378C>G (p.Pro126=) c.304C>G (p.Pro102Ala) c.*482C>G (n.*482C>G) c.319C>G (p.Pro107Ala) | gnomAD v4 |
| 1 | g.22660943C>T | CA338946477 | C1QB | c.313C>T (p.Pro105Ser) c.339C>T (p.Pro113=) c.420C>T (p.Pro140=) c.391C>T (p.Pro131Ser) c.378C>T (p.Pro126=) c.304C>T (p.Pro102Ser) c.*482C>T (n.*482C>T) c.319C>T (p.Pro107Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22660944C>A | CA338946496 | C1QB | c.314C>A (p.Pro105Gln) c.340C>A (p.Gln114Lys) c.421C>A (p.Gln141Lys) c.392C>A (p.Pro131Gln) c.379C>A (p.Gln127Lys) c.305C>A (p.Pro102Gln) c.*483C>A (n.*483C>A) c.320C>A (p.Pro107Gln) | |
| 1 | g.22660944C>G | CA338946497 | C1QB | c.314C>G (p.Pro105Arg) c.340C>G (p.Gln114Glu) c.421C>G (p.Gln141Glu) c.392C>G (p.Pro131Arg) c.379C>G (p.Gln127Glu) c.305C>G (p.Pro102Arg) c.*483C>G (n.*483C>G) c.320C>G (p.Pro107Arg) | |
| 1 | g.22660944C>T | CA338946498 | C1QB | c.314C>T (p.Pro105Leu) c.340C>T (p.Gln114Ter) c.421C>T (p.Gln141Ter) c.392C>T (p.Pro131Leu) c.379C>T (p.Gln127Ter) c.305C>T (p.Pro102Leu) c.*483C>T (n.*483C>T) c.320C>T (p.Pro107Leu) | |
| 1 | g.22660945A>C | CA416684154 | C1QB | c.315A>C (p.Pro105=) c.341A>C (p.Gln114Pro) c.422A>C (p.Gln141Pro) c.393A>C (p.Pro131=) c.380A>C (p.Gln127Pro) c.306A>C (p.Pro102=) c.*484A>C (n.*484A>C) c.321A>C (p.Pro107=) | |
| 1 | g.22660945A>G | CA416684155 | C1QB | c.315A>G (p.Pro105=) c.341A>G (p.Gln114Arg) c.422A>G (p.Gln141Arg) c.393A>G (p.Pro131=) c.380A>G (p.Gln127Arg) c.306A>G (p.Pro102=) c.*484A>G (n.*484A>G) c.321A>G (p.Pro107=) | |
| 1 | g.22660945A>T | CA416684158 | C1QB | c.315A>T (p.Pro105=) c.341A>T (p.Gln114Leu) c.422A>T (p.Gln141Leu) c.393A>T (p.Pro131=) c.380A>T (p.Gln127Leu) c.306A>T (p.Pro102=) c.*484A>T (n.*484A>T) c.321A>T (p.Pro107=) | |
| 1 | g.22660946G>A | CA338946499 | C1QB | c.316G>A (p.Gly106Ser) c.342G>A (p.Gln114=) c.423G>A (p.Gln141=) c.394G>A (p.Gly132Ser) c.381G>A (p.Gln127=) c.307G>A (p.Gly103Ser) c.*485G>A (n.*485G>A) c.322G>A (p.Gly108Ser) | gnomAD v4 |
| 1 | g.22660946G>C | CA338946500 | C1QB | c.316G>C (p.Gly106Arg) c.342G>C (p.Gln114His) c.423G>C (p.Gln141His) c.394G>C (p.Gly132Arg) c.381G>C (p.Gln127His) c.307G>C (p.Gly103Arg) c.*485G>C (n.*485G>C) c.322G>C (p.Gly108Arg) | gnomAD v4 |
| 1 | g.22660946G>T | CA338946501 | C1QB | c.316G>T (p.Gly106Cys) c.342G>T (p.Gln114His) c.423G>T (p.Gln141His) c.394G>T (p.Gly132Cys) c.381G>T (p.Gln127His) c.307G>T (p.Gly103Cys) c.*485G>T (n.*485G>T) c.322G>T (p.Gly108Cys) | |
| 1 | g.22660947del | CA2644011873 | C1QB | c.317del (p.Gly106AlafsTer?) c.343del (p.Ala115ProfsTer4) c.424del (p.Ala142ProfsTer4) c.395del (p.Gly132AlafsTer?) c.382del (p.Ala128ProfsTer4) c.308del (p.Gly103AlafsTer?) c.*486del (n.*486del) c.323del (p.Gly108AlafsTer?) | gnomAD v4 |
| 1 | g.22660947G>A | CA338946519 | C1QB | c.317G>A (p.Gly106Asp) c.343G>A (p.Ala115Thr) c.424G>A (p.Ala142Thr) c.395G>A (p.Gly132Asp) c.382G>A (p.Ala128Thr) c.308G>A (p.Gly103Asp) c.*486G>A (n.*486G>A) c.323G>A (p.Gly108Asp) | COSMIC |
| 1 | g.22660947G>C | CA338946516 | C1QB | c.317G>C (p.Gly106Ala) c.343G>C (p.Ala115Pro) c.424G>C (p.Ala142Pro) c.395G>C (p.Gly132Ala) c.382G>C (p.Ala128Pro) c.308G>C (p.Gly103Ala) c.*486G>C (n.*486G>C) c.323G>C (p.Gly108Ala) | |
| 1 | g.22660947G>T | CA338946503 | C1QB | c.317G>T (p.Gly106Val) c.343G>T (p.Ala115Ser) c.424G>T (p.Ala142Ser) c.395G>T (p.Gly132Val) c.382G>T (p.Ala128Ser) c.308G>T (p.Gly103Val) c.*486G>T (n.*486G>T) c.323G>T (p.Gly108Val) | gnomAD v4 COSMIC |
| 1 | g.22660948C>A | CA19187896 | C1QB | c.318C>A (p.Gly106=) c.344C>A (p.Ala115Asp) c.425C>A (p.Ala142Asp) c.396C>A (p.Gly132=) c.383C>A (p.Ala128Asp) c.309C>A (p.Gly103=) c.*487C>A (n.*487C>A) c.324C>A (p.Gly108=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.22660948C= | CA1158486977 | C1QB | c.318C= (p.Gly106=) c.344C= (p.Ala115=) c.425C= (p.Ala142=) c.396C= (p.Gly132=) c.383C= (p.Ala128=) c.309C= (p.Gly103=) c.*487C= (n.*487C=) c.324C= (p.Gly108=) | |
| 1 | g.22660948C>G | CA416684162 | C1QB | c.318C>G (p.Gly106=) c.344C>G (p.Ala115Gly) c.425C>G (p.Ala142Gly) c.396C>G (p.Gly132=) c.383C>G (p.Ala128Gly) c.309C>G (p.Gly103=) c.*487C>G (n.*487C>G) c.324C>G (p.Gly108=) | |
| 1 | g.22660948C>T | CA416684163 | C1QB | c.318C>T (p.Gly106=) c.344C>T (p.Ala115Val) c.425C>T (p.Ala142Val) c.396C>T (p.Gly132=) c.383C>T (p.Ala128Val) c.309C>T (p.Gly103=) c.*487C>T (n.*487C>T) c.324C>T (p.Gly108=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.22660949C>A | CA338946521 | C1QB | c.319C>A (p.Pro107Thr) c.345C>A (p.Ala115=) c.426C>A (p.Ala142=) c.397C>A (p.Pro133Thr) c.384C>A (p.Ala128=) c.310C>A (p.Pro104Thr) c.*488C>A (n.*488C>A) c.325C>A (p.Pro109Thr) | |
| 1 | g.22660949C>G | CA338946525 | C1QB | c.319C>G (p.Pro107Ala) c.345C>G (p.Ala115=) c.426C>G (p.Ala142=) c.397C>G (p.Pro133Ala) c.384C>G (p.Ala128=) c.310C>G (p.Pro104Ala) c.*488C>G (n.*488C>G) c.325C>G (p.Pro109Ala) | |
| 1 | g.22660949C>T | CA338946527 | C1QB | c.319C>T (p.Pro107Ser) c.345C>T (p.Ala115=) c.426C>T (p.Ala142=) c.397C>T (p.Pro133Ser) c.384C>T (p.Ala128=) c.310C>T (p.Pro104Ser) c.*488C>T (n.*488C>T) c.325C>T (p.Pro109Ser) | dbSNP gnomAD v4 |
| 1 | g.22660950C>A | CA338946530 | C1QB | c.320C>A (p.Pro107His) c.346C>A (p.Pro116Thr) c.427C>A (p.Pro143Thr) c.398C>A (p.Pro133His) c.385C>A (p.Pro129Thr) c.311C>A (p.Pro104His) c.*489C>A (n.*489C>A) c.326C>A (p.Pro109His) | |
| 1 | g.22660950C= | CA1158486978 | C1QB | c.320C= (p.Pro107=) c.346C= (p.Pro116=) c.427C= (p.Pro143=) c.398C= (p.Pro133=) c.385C= (p.Pro129=) c.311C= (p.Pro104=) c.*489C= (n.*489C=) c.326C= (p.Pro109=) | |
| 1 | g.22660950C>G | CA338946533 | C1QB | c.320C>G (p.Pro107Arg) c.346C>G (p.Pro116Ala) c.427C>G (p.Pro143Ala) c.398C>G (p.Pro133Arg) c.385C>G (p.Pro129Ala) c.311C>G (p.Pro104Arg) c.*489C>G (n.*489C>G) c.326C>G (p.Pro109Arg) | |
| 1 | g.22660950C>T | CA338946536 | C1QB | c.320C>T (p.Pro107Leu) c.346C>T (p.Pro116Ser) c.427C>T (p.Pro143Ser) c.398C>T (p.Pro133Leu) c.385C>T (p.Pro129Ser) c.311C>T (p.Pro104Leu) c.*489C>T (n.*489C>T) c.326C>T (p.Pro109Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.22660951C>A | CA416684166 | C1QB | c.321C>A (p.Pro107=) c.347C>A (p.Pro116Gln) c.428C>A (p.Pro143Gln) c.399C>A (p.Pro133=) c.386C>A (p.Pro129Gln) c.312C>A (p.Pro104=) c.*490C>A (n.*490C>A) c.327C>A (p.Pro109=) | dbSNP gnomAD v2 |
| 1 | g.22660951C= | CA1158486979 | C1QB | c.321C= (p.Pro107=) c.347C= (p.Pro116=) c.428C= (p.Pro143=) c.399C= (p.Pro133=) c.386C= (p.Pro129=) c.312C= (p.Pro104=) c.*490C= (n.*490C=) c.327C= (p.Pro109=) | |
| 1 | g.22660951C>G | CA416684169 | C1QB | c.321C>G (p.Pro107=) c.347C>G (p.Pro116Arg) c.428C>G (p.Pro143Arg) c.399C>G (p.Pro133=) c.386C>G (p.Pro129Arg) c.312C>G (p.Pro104=) c.*490C>G (n.*490C>G) c.327C>G (p.Pro109=) | |
| 1 | g.22660951C>T | CA416684167 | C1QB | c.321C>T (p.Pro107=) c.347C>T (p.Pro116Leu) c.428C>T (p.Pro143Leu) c.399C>T (p.Pro133=) c.386C>T (p.Pro129Leu) c.312C>T (p.Pro104=) c.*490C>T (n.*490C>T) c.327C>T (p.Pro109=) | COSMIC |
| 1 | g.22660952A>C | CA338946538 | C1QB | c.322A>C (p.Lys108Gln) c.348A>C (p.Pro116=) c.429A>C (p.Pro143=) c.400A>C (p.Lys134Gln) c.387A>C (p.Pro129=) c.313A>C (p.Lys105Gln) c.*491A>C (n.*491A>C) c.328A>C (p.Lys110Gln) | |
| 1 | g.22660952A>G | CA338946542 | C1QB | c.322A>G (p.Lys108Glu) c.348A>G (p.Pro116=) c.429A>G (p.Pro143=) c.400A>G (p.Lys134Glu) c.387A>G (p.Pro129=) c.313A>G (p.Lys105Glu) c.*491A>G (n.*491A>G) c.328A>G (p.Lys110Glu) | |
| 1 | g.22660952A>T | CA338946540 | C1QB | c.322A>T (p.Lys108Ter) c.348A>T (p.Pro116=) c.429A>T (p.Pro143=) c.400A>T (p.Lys134Ter) c.387A>T (p.Pro129=) c.313A>T (p.Lys105Ter) c.*491A>T (n.*491A>T) c.328A>T (p.Lys110Ter) | |
| 1 | g.22660953A>C | CA338946543 | C1QB | c.323A>C (p.Lys108Thr) c.349A>C (p.Lys117Gln) c.430A>C (p.Lys144Gln) c.401A>C (p.Lys134Thr) c.388A>C (p.Lys130Gln) c.314A>C (p.Lys105Thr) c.*492A>C (n.*492A>C) c.329A>C (p.Lys110Thr) | |
| 1 | g.22660953A>G | CA338946546 | C1QB | c.323A>G (p.Lys108Arg) c.349A>G (p.Lys117Glu) c.430A>G (p.Lys144Glu) c.401A>G (p.Lys134Arg) c.388A>G (p.Lys130Glu) c.314A>G (p.Lys105Arg) c.*492A>G (n.*492A>G) c.329A>G (p.Lys110Arg) | ClinVar dbSNP |
| 1 | g.22660953A>T | CA338946551 | C1QB | c.323A>T (p.Lys108Ile) c.349A>T (p.Lys117Ter) c.430A>T (p.Lys144Ter) c.401A>T (p.Lys134Ile) c.388A>T (p.Lys130Ter) c.314A>T (p.Lys105Ile) c.*492A>T (n.*492A>T) c.329A>T (p.Lys110Ile) | |
| 1 | g.22660954A>C | CA338946554 | C1QB | c.324A>C (p.Lys108Asn) c.350A>C (p.Lys117Thr) c.431A>C (p.Lys144Thr) c.402A>C (p.Lys134Asn) c.389A>C (p.Lys130Thr) c.315A>C (p.Lys105Asn) c.*493A>C (n.*493A>C) c.330A>C (p.Lys110Asn) | |
| 1 | g.22660954A>G | CA416684170 | C1QB | c.324A>G (p.Lys108=) c.350A>G (p.Lys117Arg) c.431A>G (p.Lys144Arg) c.402A>G (p.Lys134=) c.389A>G (p.Lys130Arg) c.315A>G (p.Lys105=) c.*493A>G (n.*493A>G) c.330A>G (p.Lys110=) | |
| 1 | g.22660954A>T | CA338946562 | C1QB | c.324A>T (p.Lys108Asn) c.350A>T (p.Lys117Met) c.431A>T (p.Lys144Met) c.402A>T (p.Lys134Asn) c.389A>T (p.Lys130Met) c.315A>T (p.Lys105Asn) c.*493A>T (n.*493A>T) c.330A>T (p.Lys110Asn) | |
| 1 | g.22660955G>A | CA338946567 | C1QB | c.325G>A (p.Gly109Ser) c.351G>A (p.Lys117=) c.432G>A (p.Lys144=) c.403G>A (p.Gly135Ser) c.390G>A (p.Lys130=) c.316G>A (p.Gly106Ser) c.*494G>A (n.*494G>A) c.331G>A (p.Gly111Ser) | gnomAD v4 |
| 1 | g.22660955G>C | CA338946571 | C1QB | c.325G>C (p.Gly109Arg) c.351G>C (p.Lys117Asn) c.432G>C (p.Lys144Asn) c.403G>C (p.Gly135Arg) c.390G>C (p.Lys130Asn) c.316G>C (p.Gly106Arg) c.*494G>C (n.*494G>C) c.331G>C (p.Gly111Arg) | |
| 1 | g.22660955G>T | CA338946584 | C1QB | c.325G>T (p.Gly109Cys) c.351G>T (p.Lys117Asn) c.432G>T (p.Lys144Asn) c.403G>T (p.Gly135Cys) c.390G>T (p.Lys130Asn) c.316G>T (p.Gly106Cys) c.*494G>T (n.*494G>T) c.331G>T (p.Gly111Cys) | |
| 1 | g.22660956G>A | CA338946588 | C1QB | c.326G>A (p.Gly109Asp) c.352G>A (p.Val118Met) c.433G>A (p.Val145Met) c.404G>A (p.Gly135Asp) c.391G>A (p.Val131Met) c.317G>A (p.Gly106Asp) c.*495G>A (n.*495G>A) c.332G>A (p.Gly111Asp) | COSMIC |
| 1 | g.22660956G>C | CA338946589 | C1QB | c.326G>C (p.Gly109Ala) c.352G>C (p.Val118Leu) c.433G>C (p.Val145Leu) c.404G>C (p.Gly135Ala) c.391G>C (p.Val131Leu) c.317G>C (p.Gly106Ala) c.*495G>C (n.*495G>C) c.332G>C (p.Gly111Ala) | |
| 1 | g.22660956G>T | CA338946590 | C1QB | c.326G>T (p.Gly109Val) c.352G>T (p.Val118Leu) c.433G>T (p.Val145Leu) c.404G>T (p.Gly135Val) c.391G>T (p.Val131Leu) c.317G>T (p.Gly106Val) c.*495G>T (n.*495G>T) c.332G>T (p.Gly111Val) | |
| 1 | g.22660957T>A | CA416684180 | C1QB | c.327T>A (p.Gly109=) c.353T>A (p.Val118Glu) c.434T>A (p.Val145Glu) c.405T>A (p.Gly135=) c.392T>A (p.Val131Glu) c.318T>A (p.Gly106=) c.*496T>A (n.*496T>A) c.333T>A (p.Gly111=) | |
| 1 | g.22660957T>C | CA678140 | C1QB | c.327T>C (p.Gly109=) c.353T>C (p.Val118Ala) c.434T>C (p.Val145Ala) c.405T>C (p.Gly135=) c.392T>C (p.Val131Ala) c.318T>C (p.Gly106=) c.*496T>C (n.*496T>C) c.333T>C (p.Gly111=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22660957T>G | CA416684183 | C1QB | c.327T>G (p.Gly109=) c.353T>G (p.Val118Gly) c.434T>G (p.Val145Gly) c.405T>G (p.Gly135=) c.392T>G (p.Val131Gly) c.318T>G (p.Gly106=) c.*496T>G (n.*496T>G) c.333T>G (p.Gly111=) | |
| 1 | g.22660957T= | CA1142259664 | C1QB | c.327T= (p.Gly109=) c.353T= (p.Val118=) c.434T= (p.Val145=) c.405T= (p.Gly135=) c.392T= (p.Val131=) c.318T= (p.Gly106=) c.*496T= (n.*496T=) c.333T= (p.Gly111=) | |
| 1 | g.22660958G>A | CA338946598 | C1QB | c.328G>A (p.Glu110Lys) c.354G>A (p.Val118=) c.435G>A (p.Val145=) c.406G>A (p.Glu136Lys) c.393G>A (p.Val131=) c.319G>A (p.Glu107Lys) c.*497G>A (n.*497G>A) c.334G>A (p.Glu112Lys) | |
| 1 | g.22660958G>C | CA338946592 | C1QB | c.328G>C (p.Glu110Gln) c.354G>C (p.Val118=) c.435G>C (p.Val145=) c.406G>C (p.Glu136Gln) c.393G>C (p.Val131=) c.319G>C (p.Glu107Gln) c.*497G>C (n.*497G>C) c.334G>C (p.Glu112Gln) | |
| 1 | g.22660958G>T | CA338946594 | C1QB | c.328G>T (p.Glu110Ter) c.354G>T (p.Val118=) c.435G>T (p.Val145=) c.406G>T (p.Glu136Ter) c.393G>T (p.Val131=) c.319G>T (p.Glu107Ter) c.*497G>T (n.*497G>T) c.334G>T (p.Glu112Ter) | |
| 1 | g.22660959A>C | CA338946616 | C1QB | c.329A>C (p.Glu110Ala) c.355A>C (p.Asn119His) c.436A>C (p.Asn146His) c.407A>C (p.Glu136Ala) c.394A>C (p.Asn132His) c.320A>C (p.Glu107Ala) c.*498A>C (n.*498A>C) c.335A>C (p.Glu112Ala) | |
| 1 | g.22660959A>G | CA338946619 | C1QB | c.329A>G (p.Glu110Gly) c.355A>G (p.Asn119Asp) c.436A>G (p.Asn146Asp) c.407A>G (p.Glu136Gly) c.394A>G (p.Asn132Asp) c.320A>G (p.Glu107Gly) c.*498A>G (n.*498A>G) c.335A>G (p.Glu112Gly) | |
| 1 | g.22660959A>T | CA338946624 | C1QB | c.329A>T (p.Glu110Val) c.355A>T (p.Asn119Tyr) c.436A>T (p.Asn146Tyr) c.407A>T (p.Glu136Val) c.394A>T (p.Asn132Tyr) c.320A>T (p.Glu107Val) c.*498A>T (n.*498A>T) c.335A>T (p.Glu112Val) | |
| 1 | g.22660960A>C | CA338946631 | C1QB | c.330A>C (p.Glu110Asp) c.356A>C (p.Asn119Thr) c.437A>C (p.Asn146Thr) c.408A>C (p.Glu136Asp) c.395A>C (p.Asn132Thr) c.321A>C (p.Glu107Asp) c.*499A>C (n.*499A>C) c.336A>C (p.Glu112Asp) | |
| 1 | g.22660960A>G | CA416684188 | C1QB | c.330A>G (p.Glu110=) c.356A>G (p.Asn119Ser) c.437A>G (p.Asn146Ser) c.408A>G (p.Glu136=) c.395A>G (p.Asn132Ser) c.321A>G (p.Glu107=) c.*499A>G (n.*499A>G) c.336A>G (p.Glu112=) | |
| 1 | g.22660960A>T | CA338946647 | C1QB | c.330A>T (p.Glu110Asp) c.356A>T (p.Asn119Ile) c.437A>T (p.Asn146Ile) c.408A>T (p.Glu136Asp) c.395A>T (p.Asn132Ile) c.321A>T (p.Glu107Asp) c.*499A>T (n.*499A>T) c.336A>T (p.Glu112Asp) | |
| 1 | g.22660961T>A | CA338946656 | C1QB | c.331T>A (p.Ser111Thr) c.357T>A (p.Asn119Lys) c.438T>A (p.Asn146Lys) c.409T>A (p.Ser137Thr) c.396T>A (p.Asn132Lys) c.322T>A (p.Ser108Thr) c.*500T>A (n.*500T>A) c.337T>A (p.Ser113Thr) | dbSNP |
| 1 | g.22660961T>C | CA338946667 | C1QB | c.331T>C (p.Ser111Pro) c.357T>C (p.Asn119=) c.438T>C (p.Asn146=) c.409T>C (p.Ser137Pro) c.396T>C (p.Asn132=) c.322T>C (p.Ser108Pro) c.*500T>C (n.*500T>C) c.337T>C (p.Ser113Pro) | |
| 1 | g.22660961T>G | CA338946669 | C1QB | c.331T>G (p.Ser111Ala) c.357T>G (p.Asn119Lys) c.438T>G (p.Asn146Lys) c.409T>G (p.Ser137Ala) c.396T>G (p.Asn132Lys) c.322T>G (p.Ser108Ala) c.*500T>G (n.*500T>G) c.337T>G (p.Ser113Ala) | gnomAD v4 |
| 1 | g.22660962C>A | CA338946674 | C1QB | c.332C>A (p.Ser111Ter) c.358C>A (p.Arg120=) c.439C>A (p.Arg147=) c.410C>A (p.Ser137Ter) c.397C>A (p.Arg133=) c.323C>A (p.Ser108Ter) c.*501C>A (n.*501C>A) c.338C>A (p.Ser113Ter) | |
| 1 | g.22660962C= | CA1148233178 | C1QB | c.332C= (p.Ser111=) c.358C= (p.Arg120=) c.439C= (p.Arg147=) c.410C= (p.Ser137=) c.397C= (p.Arg133=) c.323C= (p.Ser108=) c.*501C= (n.*501C=) c.338C= (p.Ser113=) | |
| 1 | g.22660962C>G | CA338946686 | C1QB | c.332C>G (p.Ser111Trp) c.358C>G (p.Arg120Gly) c.439C>G (p.Arg147Gly) c.410C>G (p.Ser137Trp) c.397C>G (p.Arg133Gly) c.323C>G (p.Ser108Trp) c.*501C>G (n.*501C>G) c.338C>G (p.Ser113Trp) | |
| 1 | g.22660962C>T | CA678141 | C1QB | c.332C>T (p.Ser111Leu) c.358C>T (p.Arg120Trp) c.439C>T (p.Arg147Trp) c.410C>T (p.Ser137Leu) c.397C>T (p.Arg133Trp) c.323C>T (p.Ser108Leu) c.*501C>T (n.*501C>T) c.338C>T (p.Ser113Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.22660963G>A | CA678142 | C1QB | c.333G>A (p.Ser111=) c.359G>A (p.Arg120Gln) c.440G>A (p.Arg147Gln) c.411G>A (p.Ser137=) c.398G>A (p.Arg133Gln) c.324G>A (p.Ser108=) c.*502G>A (n.*502G>A) c.339G>A (p.Ser113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22660963G>C | CA19187914 | C1QB | c.333G>C (p.Ser111=) c.359G>C (p.Arg120Pro) c.440G>C (p.Arg147Pro) c.411G>C (p.Ser137=) c.398G>C (p.Arg133Pro) c.324G>C (p.Ser108=) c.*502G>C (n.*502G>C) c.339G>C (p.Ser113=) | dbSNP |
| 1 | g.22660963G= | CA1158486980 | C1QB | c.333G= (p.Ser111=) c.359G= (p.Arg120=) c.440G= (p.Arg147=) c.411G= (p.Ser137=) c.398G= (p.Arg133=) c.324G= (p.Ser108=) c.*502G= (n.*502G=) c.339G= (p.Ser113=) | |
| 1 | g.22660963G>T | CA416684194 | C1QB | c.333G>T (p.Ser111=) c.359G>T (p.Arg120Leu) c.440G>T (p.Arg147Leu) c.411G>T (p.Ser137=) c.398G>T (p.Arg133Leu) c.324G>T (p.Ser108=) c.*502G>T (n.*502G>T) c.339G>T (p.Ser113=) | |
| 1 | g.22660964G>A | CA15067463 | C1QB | c.334G>A (p.Gly112Arg) c.360G>A (p.Arg120=) c.441G>A (p.Arg147=) c.412G>A (p.Gly138Arg) c.399G>A (p.Arg133=) c.325G>A (p.Gly109Arg) c.*503G>A (n.*503G>A) c.340G>A (p.Gly114Arg) | |
| 1 | g.22660964G>C | CA338946705 | C1QB | c.334G>C (p.Gly112Arg) c.360G>C (p.Arg120=) c.441G>C (p.Arg147=) c.412G>C (p.Gly138Arg) c.399G>C (p.Arg133=) c.325G>C (p.Gly109Arg) c.*503G>C (n.*503G>C) c.340G>C (p.Gly114Arg) | |
| 1 | g.22660964G>T | CA338946707 | C1QB | c.334G>T (p.Gly112Ter) c.360G>T (p.Arg120=) c.441G>T (p.Arg147=) c.412G>T (p.Gly138Ter) c.399G>T (p.Arg133=) c.325G>T (p.Gly109Ter) c.*503G>T (n.*503G>T) c.340G>T (p.Gly114Ter) | |
| 1 | g.22660965G>A | CA338946710 | C1QB | c.335G>A (p.Gly112Glu) c.361G>A (p.Glu121Lys) c.442G>A (p.Glu148Lys) c.413G>A (p.Gly138Glu) c.400G>A (p.Glu134Lys) c.326G>A (p.Gly109Glu) c.*504G>A (n.*504G>A) c.341G>A (p.Gly114Glu) | |
| 1 | g.22660965G>C | CA338946716 | C1QB | c.335G>C (p.Gly112Ala) c.361G>C (p.Glu121Gln) c.442G>C (p.Glu148Gln) c.413G>C (p.Gly138Ala) c.400G>C (p.Glu134Gln) c.326G>C (p.Gly109Ala) c.*504G>C (n.*504G>C) c.341G>C (p.Gly114Ala) | |
| 1 | g.22660965G>T | CA338946714 | C1QB | c.335G>T (p.Gly112Val) c.361G>T (p.Glu121Ter) c.442G>T (p.Glu148Ter) c.413G>T (p.Gly138Val) c.400G>T (p.Glu134Ter) c.326G>T (p.Gly109Val) c.*504G>T (n.*504G>T) c.341G>T (p.Gly114Val) | |
| 1 | g.22660966A>C | CA416684201 | C1QB | c.336A>C (p.Gly112=) c.362A>C (p.Glu121Ala) c.443A>C (p.Glu148Ala) c.414A>C (p.Gly138=) c.401A>C (p.Glu134Ala) c.327A>C (p.Gly109=) c.*505A>C (n.*505A>C) c.342A>C (p.Gly114=) | |
| 1 | g.22660966A>G | CA416684198 | C1QB | c.336A>G (p.Gly112=) c.362A>G (p.Glu121Gly) c.443A>G (p.Glu148Gly) c.414A>G (p.Gly138=) c.401A>G (p.Glu134Gly) c.327A>G (p.Gly109=) c.*505A>G (n.*505A>G) c.342A>G (p.Gly114=) | |
| 1 | g.22660966A>T | CA416684200 | C1QB | c.336A>T (p.Gly112=) c.362A>T (p.Glu121Val) c.443A>T (p.Glu148Val) c.414A>T (p.Gly138=) c.401A>T (p.Glu134Val) c.327A>T (p.Gly109=) c.*505A>T (n.*505A>T) c.342A>T (p.Gly114=) | |
| 1 | g.22660967G>A | CA338946718 | C1QB | c.337G>A (p.Asp113Asn) c.363G>A (p.Glu121=) c.444G>A (p.Glu148=) c.415G>A (p.Asp139Asn) c.402G>A (p.Glu134=) c.328G>A (p.Asp110Asn) c.*506G>A (n.*506G>A) c.343G>A (p.Asp115Asn) | COSMIC |
| 1 | g.22660967G>C | CA338946721 | C1QB | c.337G>C (p.Asp113His) c.363G>C (p.Glu121Asp) c.444G>C (p.Glu148Asp) c.415G>C (p.Asp139His) c.402G>C (p.Glu134Asp) c.328G>C (p.Asp110His) c.*506G>C (n.*506G>C) c.343G>C (p.Asp115His) | |
| 1 | g.22660967G= | CA1143421378 | C1QB | c.337G= (p.Asp113=) c.363G= (p.Glu121=) c.444G= (p.Glu148=) c.415G= (p.Asp139=) c.402G= (p.Glu134=) c.328G= (p.Asp110=) c.*506G= (n.*506G=) c.343G= (p.Asp115=) | |
| 1 | g.22660967G>T | CA19187928 | C1QB | c.337G>T (p.Asp113Tyr) c.363G>T (p.Glu121Asp) c.444G>T (p.Glu148Asp) c.415G>T (p.Asp139Tyr) c.402G>T (p.Glu134Asp) c.328G>T (p.Asp110Tyr) c.*506G>T (n.*506G>T) c.343G>T (p.Asp115Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.22660968A>C | CA338946746 | C1QB | c.338A>C (p.Asp113Ala) c.364A>C (p.Thr122Pro) c.445A>C (p.Thr149Pro) c.416A>C (p.Asp139Ala) c.403A>C (p.Thr135Pro) c.329A>C (p.Asp110Ala) c.*507A>C (n.*507A>C) c.344A>C (p.Asp115Ala) | |
| 1 | g.22660968A>G | CA338946748 | C1QB | c.338A>G (p.Asp113Gly) c.364A>G (p.Thr122Ala) c.445A>G (p.Thr149Ala) c.416A>G (p.Asp139Gly) c.403A>G (p.Thr135Ala) c.329A>G (p.Asp110Gly) c.*507A>G (n.*507A>G) c.344A>G (p.Asp115Gly) | |
| 1 | g.22660968A>T | CA338946751 | C1QB | c.338A>T (p.Asp113Val) c.364A>T (p.Thr122Ser) c.445A>T (p.Thr149Ser) c.416A>T (p.Asp139Val) c.403A>T (p.Thr135Ser) c.329A>T (p.Asp110Val) c.*507A>T (n.*507A>T) c.344A>T (p.Asp115Val) | |
| 1 | g.22660969C>A | CA338946765 | C1QB | c.339C>A (p.Asp113Glu) c.365C>A (p.Thr122Asn) c.446C>A (p.Thr149Asn) c.417C>A (p.Asp139Glu) c.404C>A (p.Thr135Asn) c.330C>A (p.Asp110Glu) c.*508C>A (n.*508C>A) c.345C>A (p.Asp115Glu) | |
| 1 | g.22660969C>G | CA338946767 | C1QB | c.339C>G (p.Asp113Glu) c.365C>G (p.Thr122Ser) c.446C>G (p.Thr149Ser) c.417C>G (p.Asp139Glu) c.404C>G (p.Thr135Ser) c.330C>G (p.Asp110Glu) c.*508C>G (n.*508C>G) c.345C>G (p.Asp115Glu) | |
| 1 | g.22660969C>T | CA416684210 | C1QB | c.339C>T (p.Asp113=) c.365C>T (p.Thr122Ile) c.446C>T (p.Thr149Ile) c.417C>T (p.Asp139=) c.404C>T (p.Thr135Ile) c.330C>T (p.Asp110=) c.*508C>T (n.*508C>T) c.345C>T (p.Asp115=) | gnomAD v4 |
| 1 | g.22660970T>A | CA338946771 | C1QB | c.340T>A (p.Tyr114Asn) c.366T>A (p.Thr122=) c.447T>A (p.Thr149=) c.418T>A (p.Tyr140Asn) c.405T>A (p.Thr135=) c.331T>A (p.Tyr111Asn) c.*509T>A (n.*509T>A) c.346T>A (p.Tyr116Asn) | |
| 1 | g.22660970T>C | CA338946775 | C1QB | c.340T>C (p.Tyr114His) c.366T>C (p.Thr122=) c.447T>C (p.Thr149=) c.418T>C (p.Tyr140His) c.405T>C (p.Thr135=) c.331T>C (p.Tyr111His) c.*509T>C (n.*509T>C) c.346T>C (p.Tyr116His) | |
| 1 | g.22660970T>G | CA338946778 | C1QB | c.340T>G (p.Tyr114Asp) c.366T>G (p.Thr122=) c.447T>G (p.Thr149=) c.418T>G (p.Tyr140Asp) c.405T>G (p.Thr135=) c.331T>G (p.Tyr111Asp) c.*509T>G (n.*509T>G) c.346T>G (p.Tyr116Asp) | |
| 1 | g.22660971A= | CA1158486981 | C1QB | c.341A= (p.Tyr114=) c.367A= (p.Thr123=) c.448A= (p.Thr150=) c.419A= (p.Tyr140=) c.406A= (p.Thr136=) c.332A= (p.Tyr111=) c.*510A= (n.*510A=) c.347A= (p.Tyr116=) | |
| 1 | g.22660971A>C | CA338946790 | C1QB | c.341A>C (p.Tyr114Ser) c.367A>C (p.Thr123Pro) c.448A>C (p.Thr150Pro) c.419A>C (p.Tyr140Ser) c.406A>C (p.Thr136Pro) c.332A>C (p.Tyr111Ser) c.*510A>C (n.*510A>C) c.347A>C (p.Tyr116Ser) | |
| 1 | g.22660971A>G | CA338946786 | C1QB | c.341A>G (p.Tyr114Cys) c.367A>G (p.Thr123Ala) c.448A>G (p.Thr150Ala) c.419A>G (p.Tyr140Cys) c.406A>G (p.Thr136Ala) c.332A>G (p.Tyr111Cys) c.*510A>G (n.*510A>G) c.347A>G (p.Tyr116Cys) | |
| 1 | g.22660971A>T | CA338946788 | C1QB | c.341A>T (p.Tyr114Phe) c.367A>T (p.Thr123Ser) c.448A>T (p.Thr150Ser) c.419A>T (p.Tyr140Phe) c.406A>T (p.Thr136Ser) c.332A>T (p.Tyr111Phe) c.*510A>T (n.*510A>T) c.347A>T (p.Tyr116Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22660972_22660973del | CA2574259264 | C1QB | c.342_343del (p.Tyr114Ter) c.368_369del (p.Thr123LysfsTer?) c.449_450del (p.Thr150LysfsTer?) c.420_421del (p.Tyr140Ter) c.407_408del (p.Thr136LysfsTer?) c.333_334del (p.Tyr111Ter) c.*511_*512del (n.*511_*512del) c.348_349del (p.Tyr116Ter) | |
| 1 | g.22660972C>A | CA338946793 | C1QB | c.342C>A (p.Tyr114Ter) c.368C>A (p.Thr123Lys) c.449C>A (p.Thr150Lys) c.420C>A (p.Tyr140Ter) c.407C>A (p.Thr136Lys) c.333C>A (p.Tyr111Ter) c.*511C>A (n.*511C>A) c.348C>A (p.Tyr116Ter) | dbSNP gnomAD v4 |
| 1 | g.22660972C= | CA1158486982 | C1QB | c.342C= (p.Tyr114=) c.368C= (p.Thr123=) c.449C= (p.Thr150=) c.420C= (p.Tyr140=) c.407C= (p.Thr136=) c.333C= (p.Tyr111=) c.*511C= (n.*511C=) c.348C= (p.Tyr116=) | |
| 1 | g.22660972C>G | CA338946794 | C1QB | c.342C>G (p.Tyr114Ter) c.368C>G (p.Thr123Arg) c.449C>G (p.Thr150Arg) c.420C>G (p.Tyr140Ter) c.407C>G (p.Thr136Arg) c.333C>G (p.Tyr111Ter) c.*511C>G (n.*511C>G) c.348C>G (p.Tyr116Ter) | |
| 1 | g.22660972C>T | CA416684219 | C1QB | c.342C>T (p.Tyr114=) c.368C>T (p.Thr123Ile) c.449C>T (p.Thr150Ile) c.420C>T (p.Tyr140=) c.407C>T (p.Thr136Ile) c.333C>T (p.Tyr111=) c.*511C>T (n.*511C>T) c.348C>T (p.Tyr116=) | |
| 1 | g.22660972_22660974delinsCAA | CA1158486983 | C1QB | c.342_344delinsCAA (p.Tyr114=) c.368_370delinsCAA (p.Thr123=) c.449_451delinsCAA (p.Thr150=) c.420_422delinsCAA (p.Tyr140=) c.407_409delinsCAA (p.Thr136=) c.333_335delinsCAA (p.Tyr111=) c.*511_*513delinsCAA (n.*511_*513delinsCAA) c.348_350delinsCAA (p.Tyr116=) | |
| 1 | g.22660973A>C | CA338946797 | C1QB | c.343A>C (p.Lys115Gln) c.369A>C (p.Thr123=) c.450A>C (p.Thr150=) c.421A>C (p.Lys141Gln) c.408A>C (p.Thr136=) c.334A>C (p.Lys112Gln) c.*512A>C (n.*512A>C) c.349A>C (p.Lys117Gln) | gnomAD v4 |
| 1 | g.22660973A>G | CA338946798 | C1QB | c.343A>G (p.Lys115Glu) c.369A>G (p.Thr123=) c.450A>G (p.Thr150=) c.421A>G (p.Lys141Glu) c.408A>G (p.Thr136=) c.334A>G (p.Lys112Glu) c.*512A>G (n.*512A>G) c.349A>G (p.Lys117Glu) | |
| 1 | g.22660973A>T | CA338946799 | C1QB | c.343A>T (p.Lys115Ter) c.369A>T (p.Thr123=) c.450A>T (p.Thr150=) c.421A>T (p.Lys141Ter) c.408A>T (p.Thr136=) c.334A>T (p.Lys112Ter) c.*512A>T (n.*512A>T) c.349A>T (p.Lys117Ter) | |
| 1 | g.22660973_22660974del | CA732320808 | C1QB | c.343_344del (p.Lys115GlyfsTer?) c.369_370del (p.Arg124AlafsTer?) c.450_451del (p.Arg151AlafsTer?) c.421_422del (p.Lys141GlyfsTer?) c.408_409del (p.Arg137AlafsTer?) c.334_335del (p.Lys112GlyfsTer?) c.*512_*513del (n.*512_*513del) c.349_350del (p.Lys117GlyfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.22660974A>C | CA338946801 | C1QB | c.344A>C (p.Lys115Thr) c.370A>C (p.Arg124=) c.451A>C (p.Arg151=) c.422A>C (p.Lys141Thr) c.409A>C (p.Arg137=) c.335A>C (p.Lys112Thr) c.*513A>C (n.*513A>C) c.350A>C (p.Lys117Thr) | |
| 1 | g.22660974A>G | CA338946802 | C1QB | c.344A>G (p.Lys115Arg) c.370A>G (p.Arg124Gly) c.451A>G (p.Arg151Gly) c.422A>G (p.Lys141Arg) c.409A>G (p.Arg137Gly) c.335A>G (p.Lys112Arg) c.*513A>G (n.*513A>G) c.350A>G (p.Lys117Arg) | |
| 1 | g.22660974A>T | CA338946814 | C1QB | c.344A>T (p.Lys115Met) c.370A>T (p.Arg124Trp) c.451A>T (p.Arg151Trp) c.422A>T (p.Lys141Met) c.409A>T (p.Arg137Trp) c.335A>T (p.Lys112Met) c.*513A>T (n.*513A>T) c.350A>T (p.Lys117Met) | |
| 1 | g.22660975G>A | CA416684223 | C1QB | c.345G>A (p.Lys115=) c.371G>A (p.Arg124Lys) c.452G>A (p.Arg151Lys) c.423G>A (p.Lys141=) c.410G>A (p.Arg137Lys) c.336G>A (p.Lys112=) c.*514G>A (n.*514G>A) c.351G>A (p.Lys117=) | |
| 1 | g.22660975G>C | CA338946821 | C1QB | c.345G>C (p.Lys115Asn) c.371G>C (p.Arg124Thr) c.452G>C (p.Arg151Thr) c.423G>C (p.Lys141Asn) c.410G>C (p.Arg137Thr) c.336G>C (p.Lys112Asn) c.*514G>C (n.*514G>C) c.351G>C (p.Lys117Asn) | |
| 1 | g.22660975G>T | CA338946824 | C1QB | c.345G>T (p.Lys115Asn) c.371G>T (p.Arg124Met) c.452G>T (p.Arg151Met) c.423G>T (p.Lys141Asn) c.410G>T (p.Arg137Met) c.336G>T (p.Lys112Asn) c.*514G>T (n.*514G>T) c.351G>T (p.Lys117Asn) | COSMIC |
| 1 | g.22660976G>A | CA678143 | C1QB | c.346G>A (p.Ala116Thr) c.372G>A (p.Arg124=) c.453G>A (p.Arg151=) c.424G>A (p.Ala142Thr) c.411G>A (p.Arg137=) c.337G>A (p.Ala113Thr) c.*515G>A (n.*515G>A) c.352G>A (p.Ala118Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22660976G>C | CA338946827 | C1QB | c.346G>C (p.Ala116Pro) c.372G>C (p.Arg124Ser) c.453G>C (p.Arg151Ser) c.424G>C (p.Ala142Pro) c.411G>C (p.Arg137Ser) c.337G>C (p.Ala113Pro) c.*515G>C (n.*515G>C) c.352G>C (p.Ala118Pro) | |
| 1 | g.22660976G= | CA1158486984 | C1QB | c.346G= (p.Ala116=) c.372G= (p.Arg124=) c.453G= (p.Arg151=) c.424G= (p.Ala142=) c.411G= (p.Arg137=) c.337G= (p.Ala113=) c.*515G= (n.*515G=) c.352G= (p.Ala118=) | |
| 1 | g.22660976G>T | CA338946828 | C1QB | c.346G>T (p.Ala116Ser) c.372G>T (p.Arg124Ser) c.453G>T (p.Arg151Ser) c.424G>T (p.Ala142Ser) c.411G>T (p.Arg137Ser) c.337G>T (p.Ala113Ser) c.*515G>T (n.*515G>T) c.352G>T (p.Ala118Ser) | |
| 1 | g.22660977C>A | CA338946836 | C1QB | c.347C>A (p.Ala116Asp) c.373C>A (p.Pro125Thr) c.454C>A (p.Pro152Thr) c.425C>A (p.Ala142Asp) c.412C>A (p.Pro138Thr) c.338C>A (p.Ala113Asp) c.*516C>A (n.*516C>A) c.353C>A (p.Ala118Asp) | |
| 1 | g.22660977C>G | CA338946832 | C1QB | c.347C>G (p.Ala116Gly) c.373C>G (p.Pro125Ala) c.454C>G (p.Pro152Ala) c.425C>G (p.Ala142Gly) c.412C>G (p.Pro138Ala) c.338C>G (p.Ala113Gly) c.*516C>G (n.*516C>G) c.353C>G (p.Ala118Gly) | |
| 1 | g.22660977C>T | CA338946830 | C1QB | c.347C>T (p.Ala116Val) c.373C>T (p.Pro125Ser) c.454C>T (p.Pro152Ser) c.425C>T (p.Ala142Val) c.412C>T (p.Pro138Ser) c.338C>T (p.Ala113Val) c.*516C>T (n.*516C>T) c.353C>T (p.Ala118Val) | gnomAD v4 |
| 1 | g.22660978C>A | CA416684234 | C1QB | c.348C>A (p.Ala116=) c.374C>A (p.Pro125Gln) c.455C>A (p.Pro152Gln) c.426C>A (p.Ala142=) c.413C>A (p.Pro138Gln) c.339C>A (p.Ala113=) c.*517C>A (n.*517C>A) c.354C>A (p.Ala118=) | gnomAD v4 |
| 1 | g.22660978C>G | CA416684231 | C1QB | c.348C>G (p.Ala116=) c.374C>G (p.Pro125Arg) c.455C>G (p.Pro152Arg) c.426C>G (p.Ala142=) c.413C>G (p.Pro138Arg) c.339C>G (p.Ala113=) c.*517C>G (n.*517C>G) c.354C>G (p.Ala118=) | |
| 1 | g.22660978C>T | CA416684232 | C1QB | c.348C>T (p.Ala116=) c.374C>T (p.Pro125Leu) c.455C>T (p.Pro152Leu) c.426C>T (p.Ala142=) c.413C>T (p.Pro138Leu) c.339C>T (p.Ala113=) c.*517C>T (n.*517C>T) c.354C>T (p.Ala118=) | gnomAD v4 |
| 1 | g.22660979A= | CA1158486985 | C1QB | c.349A= (p.Thr117=) c.375A= (p.Pro125=) c.456A= (p.Pro152=) c.427A= (p.Thr143=) c.414A= (p.Pro138=) c.340A= (p.Thr114=) c.*518A= (n.*518A=) c.355A= (p.Thr119=) | |
| 1 | g.22660979A>C | CA338946837 | C1QB | c.349A>C (p.Thr117Pro) c.375A>C (p.Pro125=) c.456A>C (p.Pro152=) c.427A>C (p.Thr143Pro) c.414A>C (p.Pro138=) c.340A>C (p.Thr114Pro) c.*518A>C (n.*518A>C) c.355A>C (p.Thr119Pro) | dbSNP |
| 1 | g.22660979A>G | CA338946842 | C1QB | c.349A>G (p.Thr117Ala) c.375A>G (p.Pro125=) c.456A>G (p.Pro152=) c.427A>G (p.Thr143Ala) c.414A>G (p.Pro138=) c.340A>G (p.Thr114Ala) c.*518A>G (n.*518A>G) c.355A>G (p.Thr119Ala) | |
| 1 | g.22660979A>T | CA338946844 | C1QB | c.349A>T (p.Thr117Ser) c.375A>T (p.Pro125=) c.456A>T (p.Pro152=) c.427A>T (p.Thr143Ser) c.414A>T (p.Pro138=) c.340A>T (p.Thr114Ser) c.*518A>T (n.*518A>T) c.355A>T (p.Thr119Ser) | |
| 1 | g.22660980C>A | CA338946846 | C1QB | c.350C>A (p.Thr117Asn) c.376C>A (p.Pro126Thr) c.457C>A (p.Pro153Thr) c.428C>A (p.Thr143Asn) c.415C>A (p.Pro139Thr) c.341C>A (p.Thr114Asn) c.*519C>A (n.*519C>A) c.356C>A (p.Thr119Asn) | |
| 1 | g.22660980C= | CA1158486986 | C1QB | c.350C= (p.Thr117=) c.376C= (p.Pro126=) c.457C= (p.Pro153=) c.428C= (p.Thr143=) c.415C= (p.Pro139=) c.341C= (p.Thr114=) c.*519C= (n.*519C=) c.356C= (p.Thr119=) | |
| 1 | g.22660980C>G | CA338946851 | C1QB | c.350C>G (p.Thr117Ser) c.376C>G (p.Pro126Ala) c.457C>G (p.Pro153Ala) c.428C>G (p.Thr143Ser) c.415C>G (p.Pro139Ala) c.341C>G (p.Thr114Ser) c.*519C>G (n.*519C>G) c.356C>G (p.Thr119Ser) | |
| 1 | g.22660980C>T | CA338946854 | C1QB | c.350C>T (p.Thr117Ile) c.376C>T (p.Pro126Ser) c.457C>T (p.Pro153Ser) c.428C>T (p.Thr143Ile) c.415C>T (p.Pro139Ser) c.341C>T (p.Thr114Ile) c.*519C>T (n.*519C>T) c.356C>T (p.Thr119Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22660981C>A | CA416684235 | C1QB | c.351C>A (p.Thr117=) c.377C>A (p.Pro126His) c.458C>A (p.Pro153His) c.429C>A (p.Thr143=) c.416C>A (p.Pro139His) c.342C>A (p.Thr114=) c.*520C>A (n.*520C>A) c.357C>A (p.Thr119=) | |
| 1 | g.22660981C= | CA1158486987 | C1QB | c.351C= (p.Thr117=) c.377C= (p.Pro126=) c.458C= (p.Pro153=) c.429C= (p.Thr143=) c.416C= (p.Pro139=) c.342C= (p.Thr114=) c.*520C= (n.*520C=) c.357C= (p.Thr119=) | |
| 1 | g.22660981C>G | CA416684236 | C1QB | c.351C>G (p.Thr117=) c.377C>G (p.Pro126Arg) c.458C>G (p.Pro153Arg) c.429C>G (p.Thr143=) c.416C>G (p.Pro139Arg) c.342C>G (p.Thr114=) c.*520C>G (n.*520C>G) c.357C>G (p.Thr119=) | |
| 1 | g.22660981C>T | CA416684237 | C1QB | c.351C>T (p.Thr117=) c.377C>T (p.Pro126Leu) c.458C>T (p.Pro153Leu) c.429C>T (p.Thr143=) c.416C>T (p.Pro139Leu) c.342C>T (p.Thr114=) c.*520C>T (n.*520C>T) c.357C>T (p.Thr119=) | dbSNP gnomAD v4 |
| 1 | g.22660982C>A | CA338946859 | C1QB | c.352C>A (p.Gln118Lys) c.378C>A (p.Pro126=) c.459C>A (p.Pro153=) c.430C>A (p.Gln144Lys) c.417C>A (p.Pro139=) c.343C>A (p.Gln115Lys) c.*521C>A (n.*521C>A) c.358C>A (p.Gln120Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.22660982C= | CA1158486988 | C1QB | c.352C= (p.Gln118=) c.378C= (p.Pro126=) c.459C= (p.Pro153=) c.430C= (p.Gln144=) c.417C= (p.Pro139=) c.343C= (p.Gln115=) c.*521C= (n.*521C=) c.358C= (p.Gln120=) | |
| 1 | g.22660982C>G | CA338946861 | C1QB | c.352C>G (p.Gln118Glu) c.378C>G (p.Pro126=) c.459C>G (p.Pro153=) c.430C>G (p.Gln144Glu) c.417C>G (p.Pro139=) c.343C>G (p.Gln115Glu) c.*521C>G (n.*521C>G) c.358C>G (p.Gln120Glu) | dbSNP gnomAD v2 |
| 1 | g.22660982C>T | CA338946865 | C1QB | c.352C>T (p.Gln118Ter) c.378C>T (p.Pro126=) c.459C>T (p.Pro153=) c.430C>T (p.Gln144Ter) c.417C>T (p.Pro139=) c.343C>T (p.Gln115Ter) c.*521C>T (n.*521C>T) c.358C>T (p.Gln120Ter) | |
| 1 | g.22660983A>C | CA338946868 | C1QB | c.353A>C (p.Gln118Pro) c.379A>C (p.Arg127=) c.460A>C (p.Arg154=) c.431A>C (p.Gln144Pro) c.418A>C (p.Arg140=) c.344A>C (p.Gln115Pro) c.*522A>C (n.*522A>C) c.359A>C (p.Gln120Pro) | |
| 1 | g.22660983A>G | CA338946871 | C1QB | c.353A>G (p.Gln118Arg) c.379A>G (p.Arg127Gly) c.460A>G (p.Arg154Gly) c.431A>G (p.Gln144Arg) c.418A>G (p.Arg140Gly) c.344A>G (p.Gln115Arg) c.*522A>G (n.*522A>G) c.359A>G (p.Gln120Arg) | |
| 1 | g.22660983A>T | CA338946877 | C1QB | c.353A>T (p.Gln118Leu) c.379A>T (p.Arg127Ter) c.460A>T (p.Arg154Ter) c.431A>T (p.Gln144Leu) c.418A>T (p.Arg140Ter) c.344A>T (p.Gln115Leu) c.*522A>T (n.*522A>T) c.359A>T (p.Gln120Leu) | |
| 1 | g.22660984G>A | CA416684243 | C1QB | c.354G>A (p.Gln118=) c.380G>A (p.Arg127Lys) c.461G>A (p.Arg154Lys) c.432G>A (p.Gln144=) c.419G>A (p.Arg140Lys) c.345G>A (p.Gln115=) c.*523G>A (n.*523G>A) c.360G>A (p.Gln120=) | |
| 1 | g.22660984G>C | CA338946882 | C1QB | c.354G>C (p.Gln118His) c.380G>C (p.Arg127Thr) c.461G>C (p.Arg154Thr) c.432G>C (p.Gln144His) c.419G>C (p.Arg140Thr) c.345G>C (p.Gln115His) c.*523G>C (n.*523G>C) c.360G>C (p.Gln120His) | |
| 1 | g.22660984G>T | CA338946885 | C1QB | c.354G>T (p.Gln118His) c.380G>T (p.Arg127Ile) c.461G>T (p.Arg154Ile) c.432G>T (p.Gln144His) c.419G>T (p.Arg140Ile) c.345G>T (p.Gln115His) c.*523G>T (n.*523G>T) c.360G>T (p.Gln120His) | |
| 1 | g.22660985A>C | CA338946910 | C1QB | c.355A>C (p.Lys119Gln) c.381A>C (p.Arg127Ser) c.462A>C (p.Arg154Ser) c.433A>C (p.Lys145Gln) c.420A>C (p.Arg140Ser) c.346A>C (p.Lys116Gln) c.*524A>C (n.*524A>C) c.361A>C (p.Lys121Gln) | |
| 1 | g.22660985A>G | CA338946897 | C1QB | c.355A>G (p.Lys119Glu) c.381A>G (p.Arg127=) c.462A>G (p.Arg154=) c.433A>G (p.Lys145Glu) c.420A>G (p.Arg140=) c.346A>G (p.Lys116Glu) c.*524A>G (n.*524A>G) c.361A>G (p.Lys121Glu) | |
| 1 | g.22660985A>T | CA338946890 | C1QB | c.355A>T (p.Lys119Ter) c.381A>T (p.Arg127Ser) c.462A>T (p.Arg154Ser) c.433A>T (p.Lys145Ter) c.420A>T (p.Arg140Ser) c.346A>T (p.Lys116Ter) c.*524A>T (n.*524A>T) c.361A>T (p.Lys121Ter) | gnomAD v4 |
| 1 | g.22660986A>C | CA338946915 | C1QB | c.356A>C (p.Lys119Thr) c.382A>C (p.Lys128Gln) c.463A>C (p.Lys155Gln) c.434A>C (p.Lys145Thr) c.421A>C (p.Lys141Gln) c.347A>C (p.Lys116Thr) c.*525A>C (n.*525A>C) c.362A>C (p.Lys121Thr) | |
| 1 | g.22660986A>G | CA338946916 | C1QB | c.356A>G (p.Lys119Arg) c.382A>G (p.Lys128Glu) c.463A>G (p.Lys155Glu) c.434A>G (p.Lys145Arg) c.421A>G (p.Lys141Glu) c.347A>G (p.Lys116Arg) c.*525A>G (n.*525A>G) c.362A>G (p.Lys121Arg) | |
| 1 | g.22660986A>T | CA338946917 | C1QB | c.356A>T (p.Lys119Ile) c.382A>T (p.Lys128Ter) c.463A>T (p.Lys155Ter) c.434A>T (p.Lys145Ile) c.421A>T (p.Lys141Ter) c.347A>T (p.Lys116Ile) c.*525A>T (n.*525A>T) c.362A>T (p.Lys121Ile) | |
| 1 | g.22660987A>C | CA338946918 | C1QB | c.357A>C (p.Lys119Asn) c.383A>C (p.Lys128Thr) c.464A>C (p.Lys155Thr) c.435A>C (p.Lys145Asn) c.422A>C (p.Lys141Thr) c.348A>C (p.Lys116Asn) c.*526A>C (n.*526A>C) c.363A>C (p.Lys121Asn) | |
| 1 | g.22660987A>G | CA416684249 | C1QB | c.357A>G (p.Lys119=) c.383A>G (p.Lys128Arg) c.464A>G (p.Lys155Arg) c.435A>G (p.Lys145=) c.422A>G (p.Lys141Arg) c.348A>G (p.Lys116=) c.*526A>G (n.*526A>G) c.363A>G (p.Lys121=) | |
| 1 | g.22660987A>T | CA338946919 | C1QB | c.357A>T (p.Lys119Asn) c.383A>T (p.Lys128Ile) c.464A>T (p.Lys155Ile) c.435A>T (p.Lys145Asn) c.422A>T (p.Lys141Ile) c.348A>T (p.Lys116Asn) c.*526A>T (n.*526A>T) c.363A>T (p.Lys121Asn) | |
| 1 | g.22660988A= | CA1158486989 | C1QB | c.358A= (p.Ile120=) c.384A= (p.Lys128=) c.465A= (p.Lys155=) c.436A= (p.Ile146=) c.423A= (p.Lys141=) c.349A= (p.Ile117=) c.*527A= (n.*527A=) c.364A= (p.Ile122=) | |
| 1 | g.22660988A>C | CA338946922 | C1QB | c.358A>C (p.Ile120Leu) c.384A>C (p.Lys128Asn) c.465A>C (p.Lys155Asn) c.436A>C (p.Ile146Leu) c.423A>C (p.Lys141Asn) c.349A>C (p.Ile117Leu) c.*527A>C (n.*527A>C) c.364A>C (p.Ile122Leu) | |
| 1 | g.22660988A>G | CA19187942 | C1QB | c.358A>G (p.Ile120Val) c.384A>G (p.Lys128=) c.465A>G (p.Lys155=) c.436A>G (p.Ile146Val) c.423A>G (p.Lys141=) c.349A>G (p.Ile117Val) c.*527A>G (n.*527A>G) c.364A>G (p.Ile122Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.22660988A>T | CA338946920 | C1QB | c.358A>T (p.Ile120Phe) c.384A>T (p.Lys128Asn) c.465A>T (p.Lys155Asn) c.436A>T (p.Ile146Phe) c.423A>T (p.Lys141Asn) c.349A>T (p.Ile117Phe) c.*527A>T (n.*527A>T) c.364A>T (p.Ile122Phe) | |
| 1 | g.22660989T>A | CA338946925 | C1QB | c.359T>A (p.Ile120Asn) c.385T>A (p.Ser129Thr) c.466T>A (p.Ser156Thr) c.437T>A (p.Ile146Asn) c.424T>A (p.Ser142Thr) c.350T>A (p.Ile117Asn) c.*528T>A (n.*528T>A) c.365T>A (p.Ile122Asn) | |
| 1 | g.22660989T>C | CA338946928 | C1QB | c.359T>C (p.Ile120Thr) c.385T>C (p.Ser129Pro) c.466T>C (p.Ser156Pro) c.437T>C (p.Ile146Thr) c.424T>C (p.Ser142Pro) c.350T>C (p.Ile117Thr) c.*528T>C (n.*528T>C) c.365T>C (p.Ile122Thr) | gnomAD v4 |
| 1 | g.22660989T>G | CA338946930 | C1QB | c.359T>G (p.Ile120Ser) c.385T>G (p.Ser129Ala) c.466T>G (p.Ser156Ala) c.437T>G (p.Ile146Ser) c.424T>G (p.Ser142Ala) c.350T>G (p.Ile117Ser) c.*528T>G (n.*528T>G) c.365T>G (p.Ile122Ser) | |
| 1 | g.22660990C>A | CA678145 | C1QB | c.360C>A (p.Ile120=) c.386C>A (p.Ser129Ter) c.467C>A (p.Ser156Ter) c.438C>A (p.Ile146=) c.425C>A (p.Ser142Ter) c.351C>A (p.Ile117=) c.*529C>A (n.*529C>A) c.366C>A (p.Ile122=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.22660990C= | CA1148425851 | C1QB | c.360C= (p.Ile120=) c.386C= (p.Ser129=) c.467C= (p.Ser156=) c.438C= (p.Ile146=) c.425C= (p.Ser142=) c.351C= (p.Ile117=) c.*529C= (n.*529C=) c.366C= (p.Ile122=) | |
| 1 | g.22660990C>G | CA338946935 | C1QB | c.360C>G (p.Ile120Met) c.386C>G (p.Ser129Trp) c.467C>G (p.Ser156Trp) c.438C>G (p.Ile146Met) c.425C>G (p.Ser142Trp) c.351C>G (p.Ile117Met) c.*529C>G (n.*529C>G) c.366C>G (p.Ile122Met) | |
| 1 | g.22660990C>T | CA678144 | C1QB | c.360C>T (p.Ile120=) c.386C>T (p.Ser129Leu) c.467C>T (p.Ser156Leu) c.438C>T (p.Ile146=) c.425C>T (p.Ser142Leu) c.351C>T (p.Ile117=) c.*529C>T (n.*529C>T) c.366C>T (p.Ile122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.22660991G>A | CA678146 | C1QB | c.361G>A (p.Ala121Thr) c.387G>A (p.Ser129=) c.468G>A (p.Ser156=) c.439G>A (p.Ala147Thr) c.426G>A (p.Ser142=) c.352G>A (p.Ala118Thr) c.*530G>A (n.*530G>A) c.367G>A (p.Ala123Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.22660991G>C | CA338946965 | C1QB | c.361G>C (p.Ala121Pro) c.387G>C (p.Ser129=) c.468G>C (p.Ser156=) c.439G>C (p.Ala147Pro) c.426G>C (p.Ser142=) c.352G>C (p.Ala118Pro) c.*530G>C (n.*530G>C) c.367G>C (p.Ala123Pro) | |
| 1 | g.22660991G= | CA1158486990 | C1QB | c.361G= (p.Ala121=) c.387G= (p.Ser129=) c.468G= (p.Ser156=) c.439G= (p.Ala147=) c.426G= (p.Ser142=) c.352G= (p.Ala118=) c.*530G= (n.*530G=) c.367G= (p.Ala123=) | |
| 1 | g.22660991G>T | CA338946953 | C1QB | c.361G>T (p.Ala121Ser) c.387G>T (p.Ser129=) c.468G>T (p.Ser156=) c.439G>T (p.Ala147Ser) c.426G>T (p.Ser142=) c.352G>T (p.Ala118Ser) c.*530G>T (n.*530G>T) c.367G>T (p.Ala123Ser) | gnomAD v4 |
| 1 | g.22660992C>A | CA338946968 | C1QB | c.362C>A (p.Ala121Asp) c.388C>A (p.Pro130Thr) c.469C>A (p.Pro157Thr) c.440C>A (p.Ala147Asp) c.427C>A (p.Pro143Thr) c.353C>A (p.Ala118Asp) c.*531C>A (n.*531C>A) c.368C>A (p.Ala123Asp) | gnomAD v4 |
| 1 | g.22660992C>G | CA338946971 | C1QB | c.362C>G (p.Ala121Gly) c.388C>G (p.Pro130Ala) c.469C>G (p.Pro157Ala) c.440C>G (p.Ala147Gly) c.427C>G (p.Pro143Ala) c.353C>G (p.Ala118Gly) c.*531C>G (n.*531C>G) c.368C>G (p.Ala123Gly) | |
| 1 | g.22660992C>T | CA338946976 | C1QB | c.362C>T (p.Ala121Val) c.388C>T (p.Pro130Ser) c.469C>T (p.Pro157Ser) c.440C>T (p.Ala147Val) c.427C>T (p.Pro143Ser) c.353C>T (p.Ala118Val) c.*531C>T (n.*531C>T) c.368C>T (p.Ala123Val) | |
| 1 | g.22660993C>A | CA416684253 | C1QB | c.363C>A (p.Ala121=) c.389C>A (p.Pro130His) c.470C>A (p.Pro157His) c.441C>A (p.Ala147=) c.428C>A (p.Pro143His) c.354C>A (p.Ala118=) c.*532C>A (n.*532C>A) c.369C>A (p.Ala123=) | |
| 1 | g.22660993C>G | CA416684255 | C1QB | c.363C>G (p.Ala121=) c.389C>G (p.Pro130Arg) c.470C>G (p.Pro157Arg) c.441C>G (p.Ala147=) c.428C>G (p.Pro143Arg) c.354C>G (p.Ala118=) c.*532C>G (n.*532C>G) c.369C>G (p.Ala123=) | gnomAD v4 |
| 1 | g.22660993C>T | CA416684257 | C1QB | c.363C>T (p.Ala121=) c.389C>T (p.Pro130Leu) c.470C>T (p.Pro157Leu) c.441C>T (p.Ala147=) c.428C>T (p.Pro143Leu) c.354C>T (p.Ala118=) c.*532C>T (n.*532C>T) c.369C>T (p.Ala123=) | gnomAD v4 |
| 1 | g.22660994T>A | CA338946981 | C1QB | c.364T>A (p.Phe122Ile) c.390T>A (p.Pro130=) c.471T>A (p.Pro157=) c.442T>A (p.Phe148Ile) c.429T>A (p.Pro143=) c.355T>A (p.Phe119Ile) c.*533T>A (n.*533T>A) c.370T>A (p.Phe124Ile) | |
| 1 | g.22660994T>C | CA338946986 | C1QB | c.364T>C (p.Phe122Leu) c.390T>C (p.Pro130=) c.471T>C (p.Pro157=) c.442T>C (p.Phe148Leu) c.429T>C (p.Pro143=) c.355T>C (p.Phe119Leu) c.*533T>C (n.*533T>C) c.370T>C (p.Phe124Leu) | |
| 1 | g.22660994T>G | CA338946988 | C1QB | c.364T>G (p.Phe122Val) c.390T>G (p.Pro130=) c.471T>G (p.Pro157=) c.442T>G (p.Phe148Val) c.429T>G (p.Pro143=) c.355T>G (p.Phe119Val) c.*533T>G (n.*533T>G) c.370T>G (p.Phe124Val) | |
| 1 | g.22660995T>A | CA338947000 | C1QB | c.365T>A (p.Phe122Tyr) c.391T>A (p.Ser131Thr) c.472T>A (p.Ser158Thr) c.443T>A (p.Phe148Tyr) c.430T>A (p.Ser144Thr) c.356T>A (p.Phe119Tyr) c.*534T>A (n.*534T>A) c.371T>A (p.Phe124Tyr) | |
| 1 | g.22660995T>C | CA338947002 | C1QB | c.365T>C (p.Phe122Ser) c.391T>C (p.Ser131Pro) c.472T>C (p.Ser158Pro) c.443T>C (p.Phe148Ser) c.430T>C (p.Ser144Pro) c.356T>C (p.Phe119Ser) c.*534T>C (n.*534T>C) c.371T>C (p.Phe124Ser) | |
| 1 | g.22660995T>G | CA338947004 | C1QB | c.365T>G (p.Phe122Cys) c.391T>G (p.Ser131Ala) c.472T>G (p.Ser158Ala) c.443T>G (p.Phe148Cys) c.430T>G (p.Ser144Ala) c.356T>G (p.Phe119Cys) c.*534T>G (n.*534T>G) c.371T>G (p.Phe124Cys) | |
| 1 | g.22660996C>A | CA338947005 | C1QB | c.366C>A (p.Phe122Leu) c.392C>A (p.Ser131Tyr) c.473C>A (p.Ser158Tyr) c.444C>A (p.Phe148Leu) c.431C>A (p.Ser144Tyr) c.357C>A (p.Phe119Leu) c.*535C>A (n.*535C>A) c.372C>A (p.Phe124Leu) | |
| 1 | g.22660996C>G | CA338947006 | C1QB | c.366C>G (p.Phe122Leu) c.392C>G (p.Ser131Cys) c.473C>G (p.Ser158Cys) c.444C>G (p.Phe148Leu) c.431C>G (p.Ser144Cys) c.357C>G (p.Phe119Leu) c.*535C>G (n.*535C>G) c.372C>G (p.Phe124Leu) | |
| 1 | g.22660996C>T | CA416684262 | C1QB | c.366C>T (p.Phe122=) c.392C>T (p.Ser131Phe) c.473C>T (p.Ser158Phe) c.444C>T (p.Phe148=) c.431C>T (p.Ser144Phe) c.357C>T (p.Phe119=) c.*535C>T (n.*535C>T) c.372C>T (p.Phe124=) | |
| 1 | g.22660997T>A | CA338947007 | C1QB | c.367T>A (p.Ser123Thr) c.393T>A (p.Ser131=) c.474T>A (p.Ser158=) c.445T>A (p.Ser149Thr) c.432T>A (p.Ser144=) c.358T>A (p.Ser120Thr) c.*536T>A (n.*536T>A) c.373T>A (p.Ser125Thr) | |
| 1 | g.22660997T>C | CA338947009 | C1QB | c.367T>C (p.Ser123Pro) c.393T>C (p.Ser131=) c.474T>C (p.Ser158=) c.445T>C (p.Ser149Pro) c.432T>C (p.Ser144=) c.358T>C (p.Ser120Pro) c.*536T>C (n.*536T>C) c.373T>C (p.Ser125Pro) | |
| 1 | g.22660997T>G | CA338947008 | C1QB | c.367T>G (p.Ser123Ala) c.393T>G (p.Ser131=) c.474T>G (p.Ser158=) c.445T>G (p.Ser149Ala) c.432T>G (p.Ser144=) c.358T>G (p.Ser120Ala) c.*536T>G (n.*536T>G) c.373T>G (p.Ser125Ala) | |
| 1 | g.22660998C>A | CA338947013 | C1QB | c.368C>A (p.Ser123Tyr) c.394C>A (p.Leu132Met) c.475C>A (p.Leu159Met) c.446C>A (p.Ser149Tyr) c.433C>A (p.Leu145Met) c.359C>A (p.Ser120Tyr) c.*537C>A (n.*537C>A) c.374C>A (p.Ser125Tyr) | |
| 1 | g.22660998C= | CA1142379842 | C1QB | c.368C= (p.Ser123=) c.394C= (p.Leu132=) c.475C= (p.Leu159=) c.446C= (p.Ser149=) c.433C= (p.Leu145=) c.359C= (p.Ser120=) c.*537C= (n.*537C=) c.374C= (p.Ser125=) | |
| 1 | g.22660998C>G | CA678147 | C1QB | c.368C>G (p.Ser123Cys) c.394C>G (p.Leu132Val) c.475C>G (p.Leu159Val) c.446C>G (p.Ser149Cys) c.433C>G (p.Leu145Val) c.359C>G (p.Ser120Cys) c.*537C>G (n.*537C>G) c.374C>G (p.Ser125Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22660998C>T | CA338947019 | C1QB | c.368C>T (p.Ser123Phe) c.394C>T (p.Leu132=) c.475C>T (p.Leu159=) c.446C>T (p.Ser149Phe) c.433C>T (p.Leu145=) c.359C>T (p.Ser120Phe) c.*537C>T (n.*537C>T) c.374C>T (p.Ser125Phe) | gnomAD v4 |
| 1 | g.22660999T>A | CA416684264 | C1QB | c.369T>A (p.Ser123=) c.395T>A (p.Leu132Gln) c.476T>A (p.Leu159Gln) c.447T>A (p.Ser149=) c.434T>A (p.Leu145Gln) c.360T>A (p.Ser120=) c.*538T>A (n.*538T>A) c.375T>A (p.Ser125=) | |
| 1 | g.22660999T>C | CA416684266 | C1QB | c.369T>C (p.Ser123=) c.395T>C (p.Leu132Pro) c.476T>C (p.Leu159Pro) c.447T>C (p.Ser149=) c.434T>C (p.Leu145Pro) c.360T>C (p.Ser120=) c.*538T>C (n.*538T>C) c.375T>C (p.Ser125=) | |
| 1 | g.22660999T>G | CA416684265 | C1QB | c.369T>G (p.Ser123=) c.395T>G (p.Leu132Arg) c.476T>G (p.Leu159Arg) c.447T>G (p.Ser149=) c.434T>G (p.Leu145Arg) c.360T>G (p.Ser120=) c.*538T>G (n.*538T>G) c.375T>G (p.Ser125=) | |
| 1 | g.22661000G>A | CA338947024 | C1QB | c.370G>A (p.Ala124Thr) c.396G>A (p.Leu132=) c.477G>A (p.Leu159=) c.448G>A (p.Ala150Thr) c.435G>A (p.Leu145=) c.361G>A (p.Ala121Thr) c.*539G>A (n.*539G>A) c.376G>A (p.Ala126Thr) | |
| 1 | g.22661000G>C | CA338947027 | C1QB | c.370G>C (p.Ala124Pro) c.396G>C (p.Leu132=) c.477G>C (p.Leu159=) c.448G>C (p.Ala150Pro) c.435G>C (p.Leu145=) c.361G>C (p.Ala121Pro) c.*539G>C (n.*539G>C) c.376G>C (p.Ala126Pro) | |
| 1 | g.22661000G>T | CA338947025 | C1QB | c.370G>T (p.Ala124Ser) c.396G>T (p.Leu132=) c.477G>T (p.Leu159=) c.448G>T (p.Ala150Ser) c.435G>T (p.Leu145=) c.361G>T (p.Ala121Ser) c.*539G>T (n.*539G>T) c.376G>T (p.Ala126Ser) | |
| 1 | g.22661001C>A | CA338947039 | C1QB | c.371C>A (p.Ala124Asp) c.397C>A (p.Pro133Thr) c.478C>A (p.Pro160Thr) c.449C>A (p.Ala150Asp) c.436C>A (p.Pro146Thr) c.362C>A (p.Ala121Asp) c.*540C>A (n.*540C>A) c.377C>A (p.Ala126Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22661001C= | CA1158486991 | C1QB | c.371C= (p.Ala124=) c.397C= (p.Pro133=) c.478C= (p.Pro160=) c.449C= (p.Ala150=) c.436C= (p.Pro146=) c.362C= (p.Ala121=) c.*540C= (n.*540C=) c.377C= (p.Ala126=) | |
| 1 | g.22661001C>G | CA338947040 | C1QB | c.371C>G (p.Ala124Gly) c.397C>G (p.Pro133Ala) c.478C>G (p.Pro160Ala) c.449C>G (p.Ala150Gly) c.436C>G (p.Pro146Ala) c.362C>G (p.Ala121Gly) c.*540C>G (n.*540C>G) c.377C>G (p.Ala126Gly) | |
| 1 | g.22661001C>T | CA338947041 | C1QB | c.371C>T (p.Ala124Val) c.397C>T (p.Pro133Ser) c.478C>T (p.Pro160Ser) c.449C>T (p.Ala150Val) c.436C>T (p.Pro146Ser) c.362C>T (p.Ala121Val) c.*540C>T (n.*540C>T) c.377C>T (p.Ala126Val) | |
| 1 | g.22661002C>A | CA416684268 | C1QB | c.372C>A (p.Ala124=) c.398C>A (p.Pro133Gln) c.479C>A (p.Pro160Gln) c.450C>A (p.Ala150=) c.437C>A (p.Pro146Gln) c.363C>A (p.Ala121=) c.*541C>A (n.*541C>A) c.378C>A (p.Ala126=) | |
| 1 | g.22661002C>G | CA416684269 | C1QB | c.372C>G (p.Ala124=) c.398C>G (p.Pro133Arg) c.479C>G (p.Pro160Arg) c.450C>G (p.Ala150=) c.437C>G (p.Pro146Arg) c.363C>G (p.Ala121=) c.*541C>G (n.*541C>G) c.378C>G (p.Ala126=) | |
| 1 | g.22661002C>T | CA416684270 | C1QB | c.372C>T (p.Ala124=) c.398C>T (p.Pro133Leu) c.479C>T (p.Pro160Leu) c.450C>T (p.Ala150=) c.437C>T (p.Pro146Leu) c.363C>T (p.Ala121=) c.*541C>T (n.*541C>T) c.378C>T (p.Ala126=) | |
| 1 | g.22661003A= | CA1158486992 | C1QB | c.373A= (p.Thr125=) c.399A= (p.Pro133=) c.480A= (p.Pro160=) c.451A= (p.Thr151=) c.438A= (p.Pro146=) c.364A= (p.Thr122=) c.*542A= (n.*542A=) c.379A= (p.Thr127=) | |
| 1 | g.22661003A>C | CA338947042 | C1QB | c.373A>C (p.Thr125Pro) c.399A>C (p.Pro133=) c.480A>C (p.Pro160=) c.451A>C (p.Thr151Pro) c.438A>C (p.Pro146=) c.364A>C (p.Thr122Pro) c.*542A>C (n.*542A>C) c.379A>C (p.Thr127Pro) | dbSNP gnomAD v4 |
| 1 | g.22661003A>G | CA338947043 | C1QB | c.373A>G (p.Thr125Ala) c.399A>G (p.Pro133=) c.480A>G (p.Pro160=) c.451A>G (p.Thr151Ala) c.438A>G (p.Pro146=) c.364A>G (p.Thr122Ala) c.*542A>G (n.*542A>G) c.379A>G (p.Thr127Ala) | |
| 1 | g.22661003A>T | CA338947047 | C1QB | c.373A>T (p.Thr125Ser) c.399A>T (p.Pro133=) c.480A>T (p.Pro160=) c.451A>T (p.Thr151Ser) c.438A>T (p.Pro146=) c.364A>T (p.Thr122Ser) c.*542A>T (n.*542A>T) c.379A>T (p.Thr127Ser) | |
| 1 | g.22661004C>A | CA338947051 | C1QB | c.374C>A (p.Thr125Lys) c.400C>A (p.Gln134Lys) c.481C>A (p.Gln161Lys) c.452C>A (p.Thr151Lys) c.439C>A (p.Gln147Lys) c.365C>A (p.Thr122Lys) c.*543C>A (n.*543C>A) c.380C>A (p.Thr127Lys) | |
| 1 | g.22661004C= | CA1142322232 | C1QB | c.374C= (p.Thr125=) c.400C= (p.Gln134=) c.481C= (p.Gln161=) c.452C= (p.Thr151=) c.439C= (p.Gln147=) c.365C= (p.Thr122=) c.*543C= (n.*543C=) c.380C= (p.Thr127=) | |
| 1 | g.22661004C>G | CA338947053 | C1QB | c.374C>G (p.Thr125Arg) c.400C>G (p.Gln134Glu) c.481C>G (p.Gln161Glu) c.452C>G (p.Thr151Arg) c.439C>G (p.Gln147Glu) c.365C>G (p.Thr122Arg) c.*543C>G (n.*543C>G) c.380C>G (p.Thr127Arg) | gnomAD v4 |
| 1 | g.22661004C>T | CA678148 | C1QB | c.374C>T (p.Thr125Ile) c.400C>T (p.Gln134Ter) c.481C>T (p.Gln161Ter) c.452C>T (p.Thr151Ile) c.439C>T (p.Gln147Ter) c.365C>T (p.Thr122Ile) c.*543C>T (n.*543C>T) c.380C>T (p.Thr127Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22661005A>C | CA416684275 | C1QB | c.375A>C (p.Thr125=) c.401A>C (p.Gln134Pro) c.482A>C (p.Gln161Pro) c.453A>C (p.Thr151=) c.440A>C (p.Gln147Pro) c.366A>C (p.Thr122=) c.*544A>C (n.*544A>C) c.381A>C (p.Thr127=) | |
| 1 | g.22661005A>G | CA416684276 | C1QB | c.375A>G (p.Thr125=) c.401A>G (p.Gln134Arg) c.482A>G (p.Gln161Arg) c.453A>G (p.Thr151=) c.440A>G (p.Gln147Arg) c.366A>G (p.Thr122=) c.*544A>G (n.*544A>G) c.381A>G (p.Thr127=) | |
| 1 | g.22661005A>T | CA416684277 | C1QB | c.375A>T (p.Thr125=) c.401A>T (p.Gln134Leu) c.482A>T (p.Gln161Leu) c.453A>T (p.Thr151=) c.440A>T (p.Gln147Leu) c.366A>T (p.Thr122=) c.*544A>T (n.*544A>T) c.381A>T (p.Thr127=) | |
| 1 | g.22661006A>C | CA416684281 | C1QB | c.376A>C (p.Arg126=) c.402A>C (p.Gln134His) c.483A>C (p.Gln161His) c.454A>C (p.Arg152=) c.441A>C (p.Gln147His) c.367A>C (p.Arg123=) c.*545A>C (n.*545A>C) c.382A>C (p.Arg128=) | |
| 1 | g.22661006A>G | CA338947070 | C1QB | c.376A>G (p.Arg126Gly) c.402A>G (p.Gln134=) c.483A>G (p.Gln161=) c.454A>G (p.Arg152Gly) c.441A>G (p.Gln147=) c.367A>G (p.Arg123Gly) c.*545A>G (n.*545A>G) c.382A>G (p.Arg128Gly) | ClinVar |
| 1 | g.22661006A>T | CA338947072 | C1QB | c.376A>T (p.Arg126Ter) c.402A>T (p.Gln134His) c.483A>T (p.Gln161His) c.454A>T (p.Arg152Ter) c.441A>T (p.Gln147His) c.367A>T (p.Arg123Ter) c.*545A>T (n.*545A>T) c.382A>T (p.Arg128Ter) | |
| 1 | g.22661007G>A | CA338947092 | C1QB | c.377G>A (p.Arg126Lys) c.403G>A (p.Glu135Lys) c.484G>A (p.Glu162Lys) c.455G>A (p.Arg152Lys) c.442G>A (p.Glu148Lys) c.368G>A (p.Arg123Lys) c.*546G>A (n.*546G>A) c.383G>A (p.Arg128Lys) | |
| 1 | g.22661007G>C | CA338947089 | C1QB | c.377G>C (p.Arg126Thr) c.403G>C (p.Glu135Gln) c.484G>C (p.Glu162Gln) c.455G>C (p.Arg152Thr) c.442G>C (p.Glu148Gln) c.368G>C (p.Arg123Thr) c.*546G>C (n.*546G>C) c.383G>C (p.Arg128Thr) | |
| 1 | g.22661007G>T | CA338947077 | C1QB | c.377G>T (p.Arg126Ile) c.403G>T (p.Glu135Ter) c.484G>T (p.Glu162Ter) c.455G>T (p.Arg152Ile) c.442G>T (p.Glu148Ter) c.368G>T (p.Arg123Ile) c.*546G>T (n.*546G>T) c.383G>T (p.Arg128Ile) | |
| 1 | g.22661008A>C | CA338947096 | C1QB | c.378A>C (p.Arg126Ser) c.404A>C (p.Glu135Ala) c.485A>C (p.Glu162Ala) c.456A>C (p.Arg152Ser) c.443A>C (p.Glu148Ala) c.369A>C (p.Arg123Ser) c.*547A>C (n.*547A>C) c.384A>C (p.Arg128Ser) | |
| 1 | g.22661008A>G | CA416684285 | C1QB | c.378A>G (p.Arg126=) c.404A>G (p.Glu135Gly) c.485A>G (p.Glu162Gly) c.456A>G (p.Arg152=) c.443A>G (p.Glu148Gly) c.369A>G (p.Arg123=) c.*547A>G (n.*547A>G) c.384A>G (p.Arg128=) | |
| 1 | g.22661008A>T | CA338947098 | C1QB | c.378A>T (p.Arg126Ser) c.404A>T (p.Glu135Val) c.485A>T (p.Glu162Val) c.456A>T (p.Arg152Ser) c.443A>T (p.Glu148Val) c.369A>T (p.Arg123Ser) c.*547A>T (n.*547A>T) c.384A>T (p.Arg128Ser) | |
| 1 | g.22661009A>C | CA338947101 | C1QB | c.379A>C (p.Thr127Pro) c.405A>C (p.Glu135Asp) c.486A>C (p.Glu162Asp) c.457A>C (p.Thr153Pro) c.444A>C (p.Glu148Asp) c.370A>C (p.Thr124Pro) c.*548A>C (n.*548A>C) c.385A>C (p.Thr129Pro) | |
| 1 | g.22661009A>G | CA338947102 | C1QB | c.379A>G (p.Thr127Ala) c.405A>G (p.Glu135=) c.486A>G (p.Glu162=) c.457A>G (p.Thr153Ala) c.444A>G (p.Glu148=) c.370A>G (p.Thr124Ala) c.*548A>G (n.*548A>G) c.385A>G (p.Thr129Ala) | |
| 1 | g.22661009A>T | CA338947111 | C1QB | c.379A>T (p.Thr127Ser) c.405A>T (p.Glu135Asp) c.486A>T (p.Glu162Asp) c.457A>T (p.Thr153Ser) c.444A>T (p.Glu148Asp) c.370A>T (p.Thr124Ser) c.*548A>T (n.*548A>T) c.385A>T (p.Thr129Ser) | |
| 1 | g.22661010C>A | CA338947116 | C1QB | c.380C>A (p.Thr127Asn) c.406C>A (p.Pro136Thr) c.487C>A (p.Pro163Thr) c.458C>A (p.Thr153Asn) c.445C>A (p.Pro149Thr) c.371C>A (p.Thr124Asn) c.*549C>A (n.*549C>A) c.386C>A (p.Thr129Asn) | |
| 1 | g.22661010C>G | CA338947118 | C1QB | c.380C>G (p.Thr127Ser) c.406C>G (p.Pro136Ala) c.487C>G (p.Pro163Ala) c.458C>G (p.Thr153Ser) c.445C>G (p.Pro149Ala) c.371C>G (p.Thr124Ser) c.*549C>G (n.*549C>G) c.386C>G (p.Thr129Ser) | |
| 1 | g.22661010C>T | CA338947122 | C1QB | c.380C>T (p.Thr127Ile) c.406C>T (p.Pro136Ser) c.487C>T (p.Pro163Ser) c.458C>T (p.Thr153Ile) c.445C>T (p.Pro149Ser) c.371C>T (p.Thr124Ile) c.*549C>T (n.*549C>T) c.386C>T (p.Thr129Ile) | |
| 1 | g.22661011C>A | CA416684293 | C1QB | c.381C>A (p.Thr127=) c.407C>A (p.Pro136Gln) c.488C>A (p.Pro163Gln) c.459C>A (p.Thr153=) c.446C>A (p.Pro149Gln) c.372C>A (p.Thr124=) c.*550C>A (n.*550C>A) c.387C>A (p.Thr129=) | |
| 1 | g.22661011C>G | CA416684295 | C1QB | c.381C>G (p.Thr127=) c.407C>G (p.Pro136Arg) c.488C>G (p.Pro163Arg) c.459C>G (p.Thr153=) c.446C>G (p.Pro149Arg) c.372C>G (p.Thr124=) c.*550C>G (n.*550C>G) c.387C>G (p.Thr129=) | |
| 1 | g.22661011C>T | CA416684294 | C1QB | c.381C>T (p.Thr127=) c.407C>T (p.Pro136Leu) c.488C>T (p.Pro163Leu) c.459C>T (p.Thr153=) c.446C>T (p.Pro149Leu) c.372C>T (p.Thr124=) c.*550C>T (n.*550C>T) c.387C>T (p.Thr129=) | |
| 1 | g.22661012A>C | CA338947125 | C1QB | c.382A>C (p.Ile128Leu) c.408A>C (p.Pro136=) c.489A>C (p.Pro163=) c.460A>C (p.Ile154Leu) c.447A>C (p.Pro149=) c.373A>C (p.Ile125Leu) c.*551A>C (n.*551A>C) c.388A>C (p.Ile130Leu) | |
| 1 | g.22661012A>G | CA338947126 | C1QB | c.382A>G (p.Ile128Val) c.408A>G (p.Pro136=) c.489A>G (p.Pro163=) c.460A>G (p.Ile154Val) c.447A>G (p.Pro149=) c.373A>G (p.Ile125Val) c.*551A>G (n.*551A>G) c.388A>G (p.Ile130Val) | |
| 1 | g.22661012A>T | CA338947128 | C1QB | c.382A>T (p.Ile128Phe) c.408A>T (p.Pro136=) c.489A>T (p.Pro163=) c.460A>T (p.Ile154Phe) c.447A>T (p.Pro149=) c.373A>T (p.Ile125Phe) c.*551A>T (n.*551A>T) c.388A>T (p.Ile130Phe) | |
| 1 | g.22661013T>A | CA338947134 | C1QB | c.383T>A (p.Ile128Asn) c.409T>A (p.Ser137Thr) c.490T>A (p.Ser164Thr) c.461T>A (p.Ile154Asn) c.448T>A (p.Ser150Thr) c.374T>A (p.Ile125Asn) c.*552T>A (n.*552T>A) c.389T>A (p.Ile130Asn) | |
| 1 | g.22661013T>C | CA338947131 | C1QB | c.383T>C (p.Ile128Thr) c.409T>C (p.Ser137Pro) c.490T>C (p.Ser164Pro) c.461T>C (p.Ile154Thr) c.448T>C (p.Ser150Pro) c.374T>C (p.Ile125Thr) c.*552T>C (n.*552T>C) c.389T>C (p.Ile130Thr) | gnomAD v4 |
| 1 | g.22661013T>G | CA338947129 | C1QB | c.383T>G (p.Ile128Ser) c.409T>G (p.Ser137Ala) c.490T>G (p.Ser164Ala) c.461T>G (p.Ile154Ser) c.448T>G (p.Ser150Ala) c.374T>G (p.Ile125Ser) c.*552T>G (n.*552T>G) c.389T>G (p.Ile130Ser) | |
| 1 | g.22661014C>A | CA416684299 | C1QB | c.384C>A (p.Ile128=) c.410C>A (p.Ser137Ter) c.491C>A (p.Ser164Ter) c.462C>A (p.Ile154=) c.449C>A (p.Ser150Ter) c.375C>A (p.Ile125=) c.*553C>A (n.*553C>A) c.390C>A (p.Ile130=) | |
| 1 | g.22661014C= | CA1158486993 | C1QB | c.384C= (p.Ile128=) c.410C= (p.Ser137=) c.491C= (p.Ser164=) c.462C= (p.Ile154=) c.449C= (p.Ser150=) c.375C= (p.Ile125=) c.*553C= (n.*553C=) c.390C= (p.Ile130=) | |
| 1 | g.22661014C>G | CA338947136 | C1QB | c.384C>G (p.Ile128Met) c.410C>G (p.Ser137Ter) c.491C>G (p.Ser164Ter) c.462C>G (p.Ile154Met) c.449C>G (p.Ser150Ter) c.375C>G (p.Ile125Met) c.*553C>G (n.*553C>G) c.390C>G (p.Ile130Met) | |
| 1 | g.22661014C>T | CA19188001 | C1QB | c.384C>T (p.Ile128=) c.410C>T (p.Ser137Leu) c.491C>T (p.Ser164Leu) c.462C>T (p.Ile154=) c.449C>T (p.Ser150Leu) c.375C>T (p.Ile125=) c.*553C>T (n.*553C>T) c.390C>T (p.Ile130=) | ClinVar dbSNP |
| 1 | g.22661015A>C | CA338947138 | C1QB | c.385A>C (p.Asn129His) c.411A>C (p.Ser137=) c.492A>C (p.Ser164=) c.463A>C (p.Asn155His) c.450A>C (p.Ser150=) c.376A>C (p.Asn126His) c.*554A>C (n.*554A>C) c.391A>C (p.Asn131His) | |
| 1 | g.22661015A>G | CA338947142 | C1QB | c.385A>G (p.Asn129Asp) c.411A>G (p.Ser137=) c.492A>G (p.Ser164=) c.463A>G (p.Asn155Asp) c.450A>G (p.Ser150=) c.376A>G (p.Asn126Asp) c.*554A>G (n.*554A>G) c.391A>G (p.Asn131Asp) | |
| 1 | g.22661015A>T | CA338947144 | C1QB | c.385A>T (p.Asn129Tyr) c.411A>T (p.Ser137=) c.492A>T (p.Ser164=) c.463A>T (p.Asn155Tyr) c.450A>T (p.Ser150=) c.376A>T (p.Asn126Tyr) c.*554A>T (n.*554A>T) c.391A>T (p.Asn131Tyr) | |
| 1 | g.22661016A= | CA1158486994 | C1QB | c.386A= (p.Asn129=) c.412A= (p.Thr138=) c.493A= (p.Thr165=) c.464A= (p.Asn155=) c.451A= (p.Thr151=) c.377A= (p.Asn126=) c.*555A= (n.*555A=) c.392A= (p.Asn131=) | |
| 1 | g.22661016A>C | CA338947150 | C1QB | c.386A>C (p.Asn129Thr) c.412A>C (p.Thr138Pro) c.493A>C (p.Thr165Pro) c.464A>C (p.Asn155Thr) c.451A>C (p.Thr151Pro) c.377A>C (p.Asn126Thr) c.*555A>C (n.*555A>C) c.392A>C (p.Asn131Thr) | |
| 1 | g.22661016A>G | CA338947151 | C1QB | c.386A>G (p.Asn129Ser) c.412A>G (p.Thr138Ala) c.493A>G (p.Thr165Ala) c.464A>G (p.Asn155Ser) c.451A>G (p.Thr151Ala) c.377A>G (p.Asn126Ser) c.*555A>G (n.*555A>G) c.392A>G (p.Asn131Ser) | gnomAD v4 |
| 1 | g.22661016A>T | CA338947152 | C1QB | c.386A>T (p.Asn129Ile) c.412A>T (p.Thr138Ser) c.493A>T (p.Thr165Ser) c.464A>T (p.Asn155Ile) c.451A>T (p.Thr151Ser) c.377A>T (p.Asn126Ile) c.*555A>T (n.*555A>T) c.392A>T (p.Asn131Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.22661017C>A | CA338947154 | C1QB | c.387C>A (p.Asn129Lys) c.413C>A (p.Thr138Lys) c.494C>A (p.Thr165Lys) c.465C>A (p.Asn155Lys) c.452C>A (p.Thr151Lys) c.378C>A (p.Asn126Lys) c.*556C>A (n.*556C>A) c.393C>A (p.Asn131Lys) | |
| 1 | g.22661017C= | CA1142052104 | C1QB | c.387C= (p.Asn129=) c.413C= (p.Thr138=) c.494C= (p.Thr165=) c.465C= (p.Asn155=) c.452C= (p.Thr151=) c.378C= (p.Asn126=) c.*556C= (n.*556C=) c.393C= (p.Asn131=) | |
| 1 | g.22661017C>G | CA338947155 | C1QB | c.387C>G (p.Asn129Lys) c.413C>G (p.Thr138Arg) c.494C>G (p.Thr165Arg) c.465C>G (p.Asn155Lys) c.452C>G (p.Thr151Arg) c.378C>G (p.Asn126Lys) c.*556C>G (n.*556C>G) c.393C>G (p.Asn131Lys) | gnomAD v4 |
| 1 | g.22661017C>T | CA678149 | C1QB | c.387C>T (p.Asn129=) c.413C>T (p.Thr138Met) c.494C>T (p.Thr165Met) c.465C>T (p.Asn155=) c.452C>T (p.Thr151Met) c.378C>T (p.Asn126=) c.*556C>T (n.*556C>T) c.393C>T (p.Asn131=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22661018G>A | CA678150 | C1QB | c.388G>A (p.Val130Ile) c.414G>A (p.Thr138=) c.495G>A (p.Thr165=) c.466G>A (p.Val156Ile) c.453G>A (p.Thr151=) c.379G>A (p.Val127Ile) c.*557G>A (n.*557G>A) c.394G>A (p.Val132Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22661018G>C | CA678151 | C1QB | c.388G>C (p.Val130Leu) c.414G>C (p.Thr138=) c.495G>C (p.Thr165=) c.466G>C (p.Val156Leu) c.453G>C (p.Thr151=) c.379G>C (p.Val127Leu) c.*557G>C (n.*557G>C) c.394G>C (p.Val132Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.22661018G= | CA1143418537 | C1QB | c.388G= (p.Val130=) c.414G= (p.Thr138=) c.495G= (p.Thr165=) c.466G= (p.Val156=) c.453G= (p.Thr151=) c.379G= (p.Val127=) c.*557G= (n.*557G=) c.394G= (p.Val132=) | |
| 1 | g.22661018G>T | CA338947161 | C1QB | c.388G>T (p.Val130Phe) c.414G>T (p.Thr138=) c.495G>T (p.Thr165=) c.466G>T (p.Val156Phe) c.453G>T (p.Thr151=) c.379G>T (p.Val127Phe) c.*557G>T (n.*557G>T) c.394G>T (p.Val132Phe) | gnomAD v4 |
| 1 | g.22661019T>A | CA338947173 | C1QB | c.389T>A (p.Val130Asp) c.415T>A (p.Ser139Thr) c.496T>A (p.Ser166Thr) c.467T>A (p.Val156Asp) c.454T>A (p.Ser152Thr) c.380T>A (p.Val127Asp) c.*558T>A (n.*558T>A) c.395T>A (p.Val132Asp) | COSMIC |
| 1 | g.22661019T>C | CA338947168 | C1QB | c.389T>C (p.Val130Ala) c.415T>C (p.Ser139Pro) c.496T>C (p.Ser166Pro) c.467T>C (p.Val156Ala) c.454T>C (p.Ser152Pro) c.380T>C (p.Val127Ala) c.*558T>C (n.*558T>C) c.395T>C (p.Val132Ala) | dbSNP |
| 1 | g.22661019T>G | CA338947171 | C1QB | c.389T>G (p.Val130Gly) c.415T>G (p.Ser139Ala) c.496T>G (p.Ser166Ala) c.467T>G (p.Val156Gly) c.454T>G (p.Ser152Ala) c.380T>G (p.Val127Gly) c.*558T>G (n.*558T>G) c.395T>G (p.Val132Gly) | |
| 1 | g.22661019T= | CA1158486995 | C1QB | c.389T= (p.Val130=) c.415T= (p.Ser139=) c.496T= (p.Ser166=) c.467T= (p.Val156=) c.454T= (p.Ser152=) c.380T= (p.Val127=) c.*558T= (n.*558T=) c.395T= (p.Val132=) | |
| 1 | g.22661019_22661020delinsTC | CA1158486996 | C1QB | c.389_390delinsTC (p.Val130=) c.415_416delinsTC (p.Ser139=) c.496_497delinsTC (p.Ser166=) c.467_468delinsTC (p.Val156=) c.454_455delinsTC (p.Ser152=) c.380_381delinsTC (p.Val127=) c.*558_*559delinsTC (n.*558_*559delinsTC) c.395_396delinsTC (p.Val132=) | |
| 1 | g.22661020C>A | CA678153 | C1QB | c.390C>A (p.Val130=) c.416C>A (p.Ser139Tyr) c.497C>A (p.Ser166Tyr) c.468C>A (p.Val156=) c.455C>A (p.Ser152Tyr) c.381C>A (p.Val127=) c.*559C>A (n.*559C>A) c.396C>A (p.Val132=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22661020C= | CA1158486997 | C1QB | c.390C= (p.Val130=) c.416C= (p.Ser139=) c.497C= (p.Ser166=) c.468C= (p.Val156=) c.455C= (p.Ser152=) c.381C= (p.Val127=) c.*559C= (n.*559C=) c.396C= (p.Val132=) | |
| 1 | g.22661020C>G | CA416684307 | C1QB | c.390C>G (p.Val130=) c.416C>G (p.Ser139Cys) c.497C>G (p.Ser166Cys) c.468C>G (p.Val156=) c.455C>G (p.Ser152Cys) c.381C>G (p.Val127=) c.*559C>G (n.*559C>G) c.396C>G (p.Val132=) | |
| 1 | g.22661020C>T | CA678152 | C1QB | c.390C>T (p.Val130=) c.416C>T (p.Ser139Phe) c.497C>T (p.Ser166Phe) c.468C>T (p.Val156=) c.455C>T (p.Ser152Phe) c.381C>T (p.Val127=) c.*559C>T (n.*559C>T) c.396C>T (p.Val132=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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.22661021C>A | CA338947179 | C1QB | c.391C>A (p.Pro131Thr) c.417C>A (p.Ser139=) c.498C>A (p.Ser166=) c.469C>A (p.Pro157Thr) c.456C>A (p.Ser152=) c.382C>A (p.Pro128Thr) c.*560C>A (n.*560C>A) c.397C>A (p.Pro133Thr) | |
| 1 | g.22661021C>G | CA338947180 | C1QB | c.391C>G (p.Pro131Ala) c.417C>G (p.Ser139=) c.498C>G (p.Ser166=) c.469C>G (p.Pro157Ala) c.456C>G (p.Ser152=) c.382C>G (p.Pro128Ala) c.*560C>G (n.*560C>G) c.397C>G (p.Pro133Ala) | |
| 1 | g.22661021C>T | CA338947181 | C1QB | c.391C>T (p.Pro131Ser) c.417C>T (p.Ser139=) c.498C>T (p.Ser166=) c.469C>T (p.Pro157Ser) c.456C>T (p.Ser152=) c.382C>T (p.Pro128Ser) c.*560C>T (n.*560C>T) c.397C>T (p.Pro133Ser) | gnomAD v4 COSMIC |
| 1 | g.22661022C>A | CA338947184 | C1QB | c.392C>A (p.Pro131His) c.418C>A (p.Pro140Thr) c.499C>A (p.Pro167Thr) c.470C>A (p.Pro157His) c.457C>A (p.Pro153Thr) c.383C>A (p.Pro128His) c.*561C>A (n.*561C>A) c.398C>A (p.Pro133His) | |
| 1 | g.22661022C= | CA1158486998 | C1QB | c.392C= (p.Pro131=) c.418C= (p.Pro140=) c.499C= (p.Pro167=) c.470C= (p.Pro157=) c.457C= (p.Pro153=) c.383C= (p.Pro128=) c.*561C= (n.*561C=) c.398C= (p.Pro133=) | |
| 1 | g.22661022C>G | CA338947185 | C1QB | c.392C>G (p.Pro131Arg) c.418C>G (p.Pro140Ala) c.499C>G (p.Pro167Ala) c.470C>G (p.Pro157Arg) c.457C>G (p.Pro153Ala) c.383C>G (p.Pro128Arg) c.*561C>G (n.*561C>G) c.398C>G (p.Pro133Arg) | |
| 1 | g.22661022C>T | CA338947188 | C1QB | c.392C>T (p.Pro131Leu) c.418C>T (p.Pro140Ser) c.499C>T (p.Pro167Ser) c.470C>T (p.Pro157Leu) c.457C>T (p.Pro153Ser) c.383C>T (p.Pro128Leu) c.*561C>T (n.*561C>T) c.398C>T (p.Pro133Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22661023C>A | CA416684311 | C1QB | c.393C>A (p.Pro131=) c.419C>A (p.Pro140His) c.500C>A (p.Pro167His) c.471C>A (p.Pro157=) c.458C>A (p.Pro153His) c.384C>A (p.Pro128=) c.*562C>A (n.*562C>A) c.399C>A (p.Pro133=) | |
| 1 | g.22661023C= | CA1158486999 | C1QB | c.393C= (p.Pro131=) c.419C= (p.Pro140=) c.500C= (p.Pro167=) c.471C= (p.Pro157=) c.458C= (p.Pro153=) c.384C= (p.Pro128=) c.*562C= (n.*562C=) c.399C= (p.Pro133=) | |
| 1 | g.22661023C>G | CA416684313 | C1QB | c.393C>G (p.Pro131=) c.419C>G (p.Pro140Arg) c.500C>G (p.Pro167Arg) c.471C>G (p.Pro157=) c.458C>G (p.Pro153Arg) c.384C>G (p.Pro128=) c.*562C>G (n.*562C>G) c.399C>G (p.Pro133=) | |
| 1 | g.22661023C>T | CA678154 | C1QB | c.393C>T (p.Pro131=) c.419C>T (p.Pro140Leu) c.500C>T (p.Pro167Leu) c.471C>T (p.Pro157=) c.458C>T (p.Pro153Leu) c.384C>T (p.Pro128=) c.*562C>T (n.*562C>T) c.399C>T (p.Pro133=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 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) |