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.1787378C>A | CA337902146 | GNB1 | c.937G>T (p.Ala313Ser) c.676G>T (p.Ala226Ser) c.976G>T (p.Ala326Ser) c.*189G>T (n.*189G>T) n.265G>T c.844G>T (p.Ala282Ser) | |
| 1 | g.1787378C= | CA1149299936 | GNB1 | c.937G= (p.Ala313=) c.676G= (p.Ala226=) c.976G= (p.Ala326=) c.*189G= (n.*189G=) n.265G= c.844G= (p.Ala282=) | |
| 1 | g.1787378C>G | CA337902147 | GNB1 | c.937G>C (p.Ala313Pro) c.676G>C (p.Ala226Pro) c.976G>C (p.Ala326Pro) c.*189G>C (n.*189G>C) n.265G>C c.844G>C (p.Ala282Pro) | |
| 1 | g.1787378C>T | CA353569 | GNB1 | c.937G>A (p.Ala313Thr) c.676G>A (p.Ala226Thr) c.976G>A (p.Ala326Thr) c.*189G>A (n.*189G>A) n.265G>A c.844G>A (p.Ala282Thr) | ClinVar dbSNP |
| 1 | g.1787379C>A | CA337902148 | GNB1 | c.936G>T (p.Met312Ile) c.675G>T (p.Met225Ile) c.975G>T (p.Met325Ile) c.*188G>T (n.*188G>T) n.264G>T c.843G>T (p.Met281Ile) | |
| 1 | g.1787379C>G | CA337902149 | GNB1 | c.936G>C (p.Met312Ile) c.675G>C (p.Met225Ile) c.975G>C (p.Met325Ile) c.*188G>C (n.*188G>C) n.264G>C c.843G>C (p.Met281Ile) | |
| 1 | g.1787379C>T | CA337902150 | GNB1 | c.936G>A (p.Met312Ile) c.675G>A (p.Met225Ile) c.975G>A (p.Met325Ile) c.*188G>A (n.*188G>A) n.264G>A c.843G>A (p.Met281Ile) | |
| 1 | g.1787380A>C | CA337902151 | GNB1 | c.935T>G (p.Met312Arg) c.674T>G (p.Met225Arg) c.974T>G (p.Met325Arg) c.*187T>G (n.*187T>G) n.263T>G c.842T>G (p.Met281Arg) | |
| 1 | g.1787380A>G | CA337902152 | GNB1 | c.935T>C (p.Met312Thr) c.674T>C (p.Met225Thr) c.974T>C (p.Met325Thr) c.*187T>C (n.*187T>C) n.263T>C c.842T>C (p.Met281Thr) | |
| 1 | g.1787380A>T | CA337902153 | GNB1 | c.935T>A (p.Met312Lys) c.674T>A (p.Met225Lys) c.974T>A (p.Met325Lys) c.*187T>A (n.*187T>A) n.263T>A c.842T>A (p.Met281Lys) | |
| 1 | g.1787381T>A | CA337902154 | GNB1 | c.934A>T (p.Met312Leu) c.673A>T (p.Met225Leu) c.973A>T (p.Met325Leu) c.*186A>T (n.*186A>T) n.262A>T c.841A>T (p.Met281Leu) | COSMIC |
| 1 | g.1787381T>C | CA337902155 | GNB1 | c.934A>G (p.Met312Val) c.673A>G (p.Met225Val) c.973A>G (p.Met325Val) c.*186A>G (n.*186A>G) n.262A>G c.841A>G (p.Met281Val) | |
| 1 | g.1787381T>G | CA337902156 | GNB1 | c.934A>C (p.Met312Leu) c.673A>C (p.Met225Leu) c.973A>C (p.Met325Leu) c.*186A>C (n.*186A>C) n.262A>C c.841A>C (p.Met281Leu) | |
| 1 | g.1787382G>A | CA415402682 | GNB1 | c.933C>T (p.Gly311=) c.672C>T (p.Gly224=) c.972C>T (p.Gly324=) c.*185C>T (n.*185C>T) n.261C>T c.840C>T (p.Gly280=) | |
| 1 | g.1787382G>C | CA415402683 | GNB1 | c.933C>G (p.Gly311=) c.672C>G (p.Gly224=) c.972C>G (p.Gly324=) c.*185C>G (n.*185C>G) n.261C>G c.840C>G (p.Gly280=) | |
| 1 | g.1787382G>T | CA415402684 | GNB1 | c.933C>A (p.Gly311=) c.672C>A (p.Gly224=) c.972C>A (p.Gly324=) c.*185C>A (n.*185C>A) n.261C>A c.840C>A (p.Gly280=) | |
| 1 | g.1787383C>A | CA337902159 | GNB1 | c.932G>T (p.Gly311Val) c.671G>T (p.Gly224Val) c.971G>T (p.Gly324Val) c.*184G>T (n.*184G>T) n.260G>T c.839G>T (p.Gly280Val) | |
| 1 | g.1787383C>G | CA337902158 | GNB1 | c.932G>C (p.Gly311Ala) c.671G>C (p.Gly224Ala) c.971G>C (p.Gly324Ala) c.*184G>C (n.*184G>C) n.260G>C c.839G>C (p.Gly280Ala) | |
| 1 | g.1787383C>T | CA337902157 | GNB1 | c.932G>A (p.Gly311Asp) c.671G>A (p.Gly224Asp) c.971G>A (p.Gly324Asp) c.*184G>A (n.*184G>A) n.260G>A c.839G>A (p.Gly280Asp) | ClinVar |
| 1 | g.1787384C>A | CA337902160 | GNB1 | c.931G>T (p.Gly311Cys) c.670G>T (p.Gly224Cys) c.970G>T (p.Gly324Cys) c.*183G>T (n.*183G>T) n.259G>T c.838G>T (p.Gly280Cys) | |
| 1 | g.1787384C>G | CA337902161 | GNB1 | c.931G>C (p.Gly311Arg) c.670G>C (p.Gly224Arg) c.970G>C (p.Gly324Arg) c.*183G>C (n.*183G>C) n.259G>C c.838G>C (p.Gly280Arg) | |
| 1 | g.1787384C>T | CA337902162 | GNB1 | c.931G>A (p.Gly311Ser) c.670G>A (p.Gly224Ser) c.970G>A (p.Gly324Ser) c.*183G>A (n.*183G>A) n.259G>A c.838G>A (p.Gly280Ser) | ClinVar |
| 1 | g.1787385A>C | CA337902163 | GNB1 | c.930T>G (p.Asp310Glu) c.669T>G (p.Asp223Glu) c.969T>G (p.Asp323Glu) c.*182T>G (n.*182T>G) n.258T>G c.837T>G (p.Asp279Glu) | |
| 1 | g.1787385A>G | CA415402685 | GNB1 | c.930T>C (p.Asp310=) c.669T>C (p.Asp223=) c.969T>C (p.Asp323=) c.*182T>C (n.*182T>C) n.258T>C c.837T>C (p.Asp279=) | |
| 1 | g.1787385A>T | CA337902164 | GNB1 | c.930T>A (p.Asp310Glu) c.669T>A (p.Asp223Glu) c.969T>A (p.Asp323Glu) c.*182T>A (n.*182T>A) n.258T>A c.837T>A (p.Asp279Glu) | |
| 1 | g.1787386T>A | CA337902165 | GNB1 | c.929A>T (p.Asp310Val) c.668A>T (p.Asp223Val) c.968A>T (p.Asp323Val) c.*181A>T (n.*181A>T) n.257A>T c.836A>T (p.Asp279Val) | |
| 1 | g.1787386T>C | CA337902166 | GNB1 | c.929A>G (p.Asp310Gly) c.668A>G (p.Asp223Gly) c.968A>G (p.Asp323Gly) c.*181A>G (n.*181A>G) n.257A>G c.836A>G (p.Asp279Gly) | |
| 1 | g.1787386T>G | CA337902167 | GNB1 | c.929A>C (p.Asp310Ala) c.668A>C (p.Asp223Ala) c.968A>C (p.Asp323Ala) c.*181A>C (n.*181A>C) n.257A>C c.836A>C (p.Asp279Ala) | |
| 1 | g.1787387C>A | CA337902168 | GNB1 | c.928G>T (p.Asp310Tyr) c.667G>T (p.Asp223Tyr) c.967G>T (p.Asp323Tyr) c.*180G>T (n.*180G>T) n.256G>T c.835G>T (p.Asp279Tyr) | |
| 1 | g.1787387C= | CA1149299945 | GNB1 | c.928G= (p.Asp310=) c.667G= (p.Asp223=) c.967G= (p.Asp323=) c.*180G= (n.*180G=) n.256G= c.835G= (p.Asp279=) | |
| 1 | g.1787387C>G | CA337902169 | GNB1 | c.928G>C (p.Asp310His) c.667G>C (p.Asp223His) c.967G>C (p.Asp323His) c.*180G>C (n.*180G>C) n.256G>C c.835G>C (p.Asp279His) | |
| 1 | g.1787387C>T | CA337902170 | GNB1 | c.928G>A (p.Asp310Asn) c.667G>A (p.Asp223Asn) c.967G>A (p.Asp323Asn) c.*180G>A (n.*180G>A) n.256G>A c.835G>A (p.Asp279Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1787388G>A | CA531892 | GNB1 | c.927C>T (p.Asp309=) c.666C>T (p.Asp222=) c.966C>T (p.Asp322=) c.*179C>T (n.*179C>T) n.255C>T c.834C>T (p.Asp278=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1787388G>C | CA337902172 | GNB1 | c.927C>G (p.Asp309Glu) c.666C>G (p.Asp222Glu) c.966C>G (p.Asp322Glu) c.*179C>G (n.*179C>G) n.255C>G c.834C>G (p.Asp278Glu) | |
| 1 | g.1787388G= | CA1149299955 | GNB1 | c.927C= (p.Asp309=) c.666C= (p.Asp222=) c.966C= (p.Asp322=) c.*179C= (n.*179C=) n.255C= c.834C= (p.Asp278=) | |
| 1 | g.1787388G>T | CA337902171 | GNB1 | c.927C>A (p.Asp309Glu) c.666C>A (p.Asp222Glu) c.966C>A (p.Asp322Glu) c.*179C>A (n.*179C>A) n.255C>A c.834C>A (p.Asp278Glu) | |
| 1 | g.1787389T>A | CA337902173 | GNB1 | c.926A>T (p.Asp309Val) c.665A>T (p.Asp222Val) c.965A>T (p.Asp322Val) c.*178A>T (n.*178A>T) n.254A>T c.833A>T (p.Asp278Val) | |
| 1 | g.1787389T>C | CA337902174 | GNB1 | c.926A>G (p.Asp309Gly) c.665A>G (p.Asp222Gly) c.965A>G (p.Asp322Gly) c.*178A>G (n.*178A>G) n.254A>G c.833A>G (p.Asp278Gly) | |
| 1 | g.1787389T>G | CA337902175 | GNB1 | c.926A>C (p.Asp309Ala) c.665A>C (p.Asp222Ala) c.965A>C (p.Asp322Ala) c.*178A>C (n.*178A>C) n.254A>C c.833A>C (p.Asp278Ala) | |
| 1 | g.1787390C>A | CA337902176 | GNB1 | c.925G>T (p.Asp309Tyr) c.664G>T (p.Asp222Tyr) c.964G>T (p.Asp322Tyr) c.*177G>T (n.*177G>T) n.253G>T c.832G>T (p.Asp278Tyr) | |
| 1 | g.1787390C>G | CA337902177 | GNB1 | c.925G>C (p.Asp309His) c.664G>C (p.Asp222His) c.964G>C (p.Asp322His) c.*177G>C (n.*177G>C) n.253G>C c.832G>C (p.Asp278His) | |
| 1 | g.1787390C>T | CA337902178 | GNB1 | c.925G>A (p.Asp309Asn) c.664G>A (p.Asp222Asn) c.964G>A (p.Asp322Asn) c.*177G>A (n.*177G>A) n.253G>A c.832G>A (p.Asp278Asn) | |
| 1 | g.1787391A>C | CA415402686 | GNB1 | c.924T>G (p.Thr308=) c.663T>G (p.Thr221=) c.963T>G (p.Thr321=) c.*176T>G (n.*176T>G) n.252T>G c.831T>G (p.Thr277=) | |
| 1 | g.1787391A>G | CA415402688 | GNB1 | c.924T>C (p.Thr308=) c.663T>C (p.Thr221=) c.963T>C (p.Thr321=) c.*176T>C (n.*176T>C) n.252T>C c.831T>C (p.Thr277=) | |
| 1 | g.1787391A>T | CA415402687 | GNB1 | c.924T>A (p.Thr308=) c.663T>A (p.Thr221=) c.963T>A (p.Thr321=) c.*176T>A (n.*176T>A) n.252T>A c.831T>A (p.Thr277=) | |
| 1 | g.1787392G>A | CA337902179 | GNB1 | c.923C>T (p.Thr308Ile) c.662C>T (p.Thr221Ile) c.962C>T (p.Thr321Ile) c.*175C>T (n.*175C>T) n.251C>T c.830C>T (p.Thr277Ile) | |
| 1 | g.1787392G>C | CA337902180 | GNB1 | c.923C>G (p.Thr308Ser) c.662C>G (p.Thr221Ser) c.962C>G (p.Thr321Ser) c.*175C>G (n.*175C>G) n.251C>G c.830C>G (p.Thr277Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1787392G= | CA1149299962 | GNB1 | c.923C= (p.Thr308=) c.662C= (p.Thr221=) c.962C= (p.Thr321=) c.*175C= (n.*175C=) n.251C= c.830C= (p.Thr277=) | |
| 1 | g.1787392G>T | CA337902181 | GNB1 | c.923C>A (p.Thr308Asn) c.662C>A (p.Thr221Asn) c.962C>A (p.Thr321Asn) c.*175C>A (n.*175C>A) n.251C>A c.830C>A (p.Thr277Asn) | |
| 1 | g.1787393T>A | CA337902182 | GNB1 | c.922A>T (p.Thr308Ser) c.661A>T (p.Thr221Ser) c.961A>T (p.Thr321Ser) c.*174A>T (n.*174A>T) n.250A>T c.829A>T (p.Thr277Ser) | |
| 1 | g.1787393T>C | CA337902183 | GNB1 | c.922A>G (p.Thr308Ala) c.661A>G (p.Thr221Ala) c.961A>G (p.Thr321Ala) c.*174A>G (n.*174A>G) n.250A>G c.829A>G (p.Thr277Ala) | |
| 1 | g.1787393T>G | CA337902184 | GNB1 | c.922A>C (p.Thr308Pro) c.661A>C (p.Thr221Pro) c.961A>C (p.Thr321Pro) c.*174A>C (n.*174A>C) n.250A>C c.829A>C (p.Thr277Pro) | |
| 1 | g.1787394C>A | CA415402689 | GNB1 | c.921G>T (p.Val307=) c.660G>T (p.Val220=) c.960G>T (p.Val320=) c.*173G>T (n.*173G>T) n.249G>T c.828G>T (p.Val276=) | |
| 1 | g.1787394C>G | CA415402690 | GNB1 | c.921G>C (p.Val307=) c.660G>C (p.Val220=) c.960G>C (p.Val320=) c.*173G>C (n.*173G>C) n.249G>C c.828G>C (p.Val276=) | |
| 1 | g.1787394C>T | CA415402691 | GNB1 | c.921G>A (p.Val307=) c.660G>A (p.Val220=) c.960G>A (p.Val320=) c.*173G>A (n.*173G>A) n.249G>A c.828G>A (p.Val276=) | |
| 1 | g.1787395A>C | CA337902187 | GNB1 | c.920T>G (p.Val307Gly) c.659T>G (p.Val220Gly) c.959T>G (p.Val320Gly) c.*172T>G (n.*172T>G) n.248T>G c.827T>G (p.Val276Gly) | |
| 1 | g.1787395A>G | CA337902185 | GNB1 | c.920T>C (p.Val307Ala) c.659T>C (p.Val220Ala) c.959T>C (p.Val320Ala) c.*172T>C (n.*172T>C) n.248T>C c.827T>C (p.Val276Ala) | |
| 1 | g.1787395A>T | CA337902186 | GNB1 | c.920T>A (p.Val307Glu) c.659T>A (p.Val220Glu) c.959T>A (p.Val320Glu) c.*172T>A (n.*172T>A) n.248T>A c.827T>A (p.Val276Glu) | |
| 1 | g.1787396C>A | CA531893 | GNB1 | c.919G>T (p.Val307Leu) c.658G>T (p.Val220Leu) c.958G>T (p.Val320Leu) c.*171G>T (n.*171G>T) n.247G>T c.826G>T (p.Val276Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.1787396C= | CA1149299975 | GNB1 | c.919G= (p.Val307=) c.658G= (p.Val220=) c.958G= (p.Val320=) c.*171G= (n.*171G=) n.247G= c.826G= (p.Val276=) | |
| 1 | g.1787396C>G | CA337902188 | GNB1 | c.919G>C (p.Val307Leu) c.658G>C (p.Val220Leu) c.958G>C (p.Val320Leu) c.*171G>C (n.*171G>C) n.247G>C c.826G>C (p.Val276Leu) | gnomAD v4 |
| 1 | g.1787396C>T | CA531894 | GNB1 | c.919G>A (p.Val307Met) c.658G>A (p.Val220Met) c.958G>A (p.Val320Met) c.*171G>A (n.*171G>A) n.247G>A c.826G>A (p.Val276Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.1787397G>A | CA531895 | GNB1 | c.918C>T (p.Gly306=) c.657C>T (p.Gly219=) c.957C>T (p.Gly319=) c.*170C>T (n.*170C>T) n.246C>T c.825C>T (p.Gly275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.1787397G>C | CA415402692 | GNB1 | c.918C>G (p.Gly306=) c.657C>G (p.Gly219=) c.957C>G (p.Gly319=) c.*170C>G (n.*170C>G) n.246C>G c.825C>G (p.Gly275=) | |
| 1 | g.1787397G= | CA1149299985 | GNB1 | c.918C= (p.Gly306=) c.657C= (p.Gly219=) c.957C= (p.Gly319=) c.*170C= (n.*170C=) n.246C= c.825C= (p.Gly275=) | |
| 1 | g.1787397G>T | CA415402693 | GNB1 | c.918C>A (p.Gly306=) c.657C>A (p.Gly219=) c.957C>A (p.Gly319=) c.*170C>A (n.*170C>A) n.246C>A c.825C>A (p.Gly275=) | |
| 1 | g.1787398C>A | CA337902189 | GNB1 | c.917G>T (p.Gly306Val) c.656G>T (p.Gly219Val) c.956G>T (p.Gly319Val) c.*169G>T (n.*169G>T) n.245G>T c.824G>T (p.Gly275Val) | |
| 1 | g.1787398C>G | CA337902190 | GNB1 | c.917G>C (p.Gly306Ala) c.656G>C (p.Gly219Ala) c.956G>C (p.Gly319Ala) c.*169G>C (n.*169G>C) n.245G>C c.824G>C (p.Gly275Ala) | |
| 1 | g.1787398C>T | CA337902191 | GNB1 | c.917G>A (p.Gly306Asp) c.656G>A (p.Gly219Asp) c.956G>A (p.Gly319Asp) c.*169G>A (n.*169G>A) n.245G>A c.824G>A (p.Gly275Asp) | |
| 1 | g.1787399C>A | CA337902192 | GNB1 | c.916G>T (p.Gly306Cys) c.655G>T (p.Gly219Cys) c.955G>T (p.Gly319Cys) c.*168G>T (n.*168G>T) n.244G>T c.823G>T (p.Gly275Cys) | |
| 1 | g.1787399C>G | CA337902193 | GNB1 | c.916G>C (p.Gly306Arg) c.655G>C (p.Gly219Arg) c.955G>C (p.Gly319Arg) c.*168G>C (n.*168G>C) n.244G>C c.823G>C (p.Gly275Arg) | ClinVar |
| 1 | g.1787399C>T | CA337902194 | GNB1 | c.916G>A (p.Gly306Ser) c.655G>A (p.Gly219Ser) c.955G>A (p.Gly319Ser) c.*168G>A (n.*168G>A) n.244G>A c.823G>A (p.Gly275Ser) | |
| 1 | g.1787400C>A | CA415402694 | GNB1 | c.915G>T (p.Leu305=) c.654G>T (p.Leu218=) c.954G>T (p.Leu318=) c.*167G>T (n.*167G>T) n.243G>T c.822G>T (p.Leu274=) | gnomAD v4 |
| 1 | g.1787400C>G | CA415402695 | GNB1 | c.915G>C (p.Leu305=) c.654G>C (p.Leu218=) c.954G>C (p.Leu318=) c.*167G>C (n.*167G>C) n.243G>C c.822G>C (p.Leu274=) | |
| 1 | g.1787400C>T | CA415402696 | GNB1 | c.915G>A (p.Leu305=) c.654G>A (p.Leu218=) c.954G>A (p.Leu318=) c.*167G>A (n.*167G>A) n.243G>A c.822G>A (p.Leu274=) | |
| 1 | g.1787401A= | CA1149299997 | GNB1 | c.914T= (p.Leu305=) c.653T= (p.Leu218=) c.953T= (p.Leu318=) c.*166T= (n.*166T=) n.242T= c.821T= (p.Leu274=) | |
| 1 | g.1787401A>C | CA337902195 | GNB1 | c.914T>G (p.Leu305Arg) c.653T>G (p.Leu218Arg) c.953T>G (p.Leu318Arg) c.*166T>G (n.*166T>G) n.242T>G c.821T>G (p.Leu274Arg) | |
| 1 | g.1787401A>G | CA337902196 | GNB1 | c.914T>C (p.Leu305Pro) c.653T>C (p.Leu218Pro) c.953T>C (p.Leu318Pro) c.*166T>C (n.*166T>C) n.242T>C c.821T>C (p.Leu274Pro) | |
| 1 | g.1787401A>T | CA337902197 | GNB1 | c.914T>A (p.Leu305Gln) c.653T>A (p.Leu218Gln) c.953T>A (p.Leu318Gln) c.*166T>A (n.*166T>A) n.242T>A c.821T>A (p.Leu274Gln) | dbSNP |
| 1 | g.1787402G>A | CA415402697 | GNB1 | c.913C>T (p.Leu305=) c.652C>T (p.Leu218=) c.952C>T (p.Leu318=) c.*165C>T (n.*165C>T) n.241C>T c.820C>T (p.Leu274=) | |
| 1 | g.1787402G>C | CA337902199 | GNB1 | c.913C>G (p.Leu305Val) c.652C>G (p.Leu218Val) c.952C>G (p.Leu318Val) c.*165C>G (n.*165C>G) n.241C>G c.820C>G (p.Leu274Val) | |
| 1 | g.1787402G>T | CA337902198 | GNB1 | c.913C>A (p.Leu305Met) c.652C>A (p.Leu218Met) c.952C>A (p.Leu318Met) c.*165C>A (n.*165C>A) n.241C>A c.820C>A (p.Leu274Met) | |
| 1 | g.1787403G>A | CA531896 | GNB1 | c.912C>T (p.Cys304=) c.651C>T (p.Cys217=) c.951C>T (p.Cys317=) c.*164C>T (n.*164C>T) n.240C>T c.819C>T (p.Cys273=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.1787403G>C | CA337902201 | GNB1 | c.912C>G (p.Cys304Trp) c.651C>G (p.Cys217Trp) c.951C>G (p.Cys317Trp) c.*164C>G (n.*164C>G) n.240C>G c.819C>G (p.Cys273Trp) | |
| 1 | g.1787403G= | CA1148873518 | GNB1 | c.912C= (p.Cys304=) c.651C= (p.Cys217=) c.951C= (p.Cys317=) c.*164C= (n.*164C=) n.240C= c.819C= (p.Cys273=) | |
| 1 | g.1787403G>T | CA337902200 | GNB1 | c.912C>A (p.Cys304Ter) c.651C>A (p.Cys217Ter) c.951C>A (p.Cys317Ter) c.*164C>A (n.*164C>A) n.240C>A c.819C>A (p.Cys273Ter) | |
| 1 | g.1787404C>A | CA337902202 | GNB1 | c.911G>T (p.Cys304Phe) c.650G>T (p.Cys217Phe) c.950G>T (p.Cys317Phe) c.*163G>T (n.*163G>T) n.239G>T c.818G>T (p.Cys273Phe) | |
| 1 | g.1787404C= | CA1149300009 | GNB1 | c.911G= (p.Cys304=) c.650G= (p.Cys217=) c.950G= (p.Cys317=) c.*163G= (n.*163G=) n.239G= c.818G= (p.Cys273=) | |
| 1 | g.1787404C>G | CA337902203 | GNB1 | c.911G>C (p.Cys304Ser) c.650G>C (p.Cys217Ser) c.950G>C (p.Cys317Ser) c.*163G>C (n.*163G>C) n.239G>C c.818G>C (p.Cys273Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1787404C>T | CA337902204 | GNB1 | c.911G>A (p.Cys304Tyr) c.650G>A (p.Cys217Tyr) c.950G>A (p.Cys317Tyr) c.*163G>A (n.*163G>A) n.239G>A c.818G>A (p.Cys273Tyr) | |
| 1 | g.1787405A= | CA1149300014 | GNB1 | c.910T= (p.Cys304=) c.649T= (p.Cys217=) c.949T= (p.Cys317=) c.*162T= (n.*162T=) n.238T= c.817T= (p.Cys273=) | |
| 1 | g.1787405A>C | CA337902205 | GNB1 | c.910T>G (p.Cys304Gly) c.649T>G (p.Cys217Gly) c.949T>G (p.Cys317Gly) c.*162T>G (n.*162T>G) n.238T>G c.817T>G (p.Cys273Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1787405A>G | CA337902206 | GNB1 | c.910T>C (p.Cys304Arg) c.649T>C (p.Cys217Arg) c.949T>C (p.Cys317Arg) c.*162T>C (n.*162T>C) n.238T>C c.817T>C (p.Cys273Arg) | |
| 1 | g.1787405A>T | CA337902207 | GNB1 | c.910T>A (p.Cys304Ser) c.649T>A (p.Cys217Ser) c.949T>A (p.Cys317Ser) c.*162T>A (n.*162T>A) n.238T>A c.817T>A (p.Cys273Ser) | |
| 1 | g.1787406G>A | CA415402698 | GNB1 | c.909C>T (p.Ser303=) c.648C>T (p.Ser216=) c.948C>T (p.Ser316=) c.*161C>T (n.*161C>T) n.237C>T c.816C>T (p.Ser272=) | |
| 1 | g.1787406G>C | CA337902208 | GNB1 | c.909C>G (p.Ser303Arg) c.648C>G (p.Ser216Arg) c.948C>G (p.Ser316Arg) c.*161C>G (n.*161C>G) n.237C>G c.816C>G (p.Ser272Arg) | |
| 1 | g.1787406G>T | CA337902209 | GNB1 | c.909C>A (p.Ser303Arg) c.648C>A (p.Ser216Arg) c.948C>A (p.Ser316Arg) c.*161C>A (n.*161C>A) n.237C>A c.816C>A (p.Ser272Arg) | |
| 1 | g.1787407C>A | CA337902210 | GNB1 | c.908G>T (p.Ser303Ile) c.647G>T (p.Ser216Ile) c.947G>T (p.Ser316Ile) c.*160G>T (n.*160G>T) n.236G>T c.815G>T (p.Ser272Ile) | |
| 1 | g.1787407C>G | CA337902211 | GNB1 | c.908G>C (p.Ser303Thr) c.647G>C (p.Ser216Thr) c.947G>C (p.Ser316Thr) c.*160G>C (n.*160G>C) n.236G>C c.815G>C (p.Ser272Thr) | |
| 1 | g.1787407C>T | CA337902212 | GNB1 | c.908G>A (p.Ser303Asn) c.647G>A (p.Ser216Asn) c.947G>A (p.Ser316Asn) c.*160G>A (n.*160G>A) n.236G>A c.815G>A (p.Ser272Asn) | |
| 1 | g.1787408T>A | CA337902215 | GNB1 | c.907A>T (p.Ser303Cys) c.646A>T (p.Ser216Cys) c.946A>T (p.Ser316Cys) c.*159A>T (n.*159A>T) n.235A>T c.814A>T (p.Ser272Cys) | |
| 1 | g.1787408T>C | CA337902214 | GNB1 | c.907A>G (p.Ser303Gly) c.646A>G (p.Ser216Gly) c.946A>G (p.Ser316Gly) c.*159A>G (n.*159A>G) n.235A>G c.814A>G (p.Ser272Gly) | COSMIC |
| 1 | g.1787408T>G | CA337902213 | GNB1 | c.907A>C (p.Ser303Arg) c.646A>C (p.Ser216Arg) c.946A>C (p.Ser316Arg) c.*159A>C (n.*159A>C) n.235A>C c.814A>C (p.Ser272Arg) | |
| 1 | g.1787409G>A | CA415402699 | GNB1 | c.906C>T (p.Val302=) c.645C>T (p.Val215=) c.945C>T (p.Val315=) c.*158C>T (n.*158C>T) n.234C>T c.813C>T (p.Val271=) | |
| 1 | g.1787409G>C | CA415402700 | GNB1 | c.906C>G (p.Val302=) c.645C>G (p.Val215=) c.945C>G (p.Val315=) c.*158C>G (n.*158C>G) n.234C>G c.813C>G (p.Val271=) | |
| 1 | g.1787409G>T | CA415402701 | GNB1 | c.906C>A (p.Val302=) c.645C>A (p.Val215=) c.945C>A (p.Val315=) c.*158C>A (n.*158C>A) n.234C>A c.813C>A (p.Val271=) | gnomAD v4 |
| 1 | g.1787410A>C | CA337902216 | GNB1 | c.905T>G (p.Val302Gly) c.644T>G (p.Val215Gly) c.944T>G (p.Val315Gly) c.*157T>G (n.*157T>G) n.233T>G c.812T>G (p.Val271Gly) | |
| 1 | g.1787410A>G | CA337902217 | GNB1 | c.905T>C (p.Val302Ala) c.644T>C (p.Val215Ala) c.944T>C (p.Val315Ala) c.*157T>C (n.*157T>C) n.233T>C c.812T>C (p.Val271Ala) | |
| 1 | g.1787410A>T | CA337902218 | GNB1 | c.905T>A (p.Val302Asp) c.644T>A (p.Val215Asp) c.944T>A (p.Val315Asp) c.*157T>A (n.*157T>A) n.233T>A c.812T>A (p.Val271Asp) | |
| 1 | g.1787411C>A | CA337902219 | GNB1 | c.904G>T (p.Val302Phe) c.643G>T (p.Val215Phe) c.943G>T (p.Val315Phe) c.*156G>T (n.*156G>T) n.232G>T c.811G>T (p.Val271Phe) | |
| 1 | g.1787411C= | CA1149300026 | GNB1 | c.904G= (p.Val302=) c.643G= (p.Val215=) c.943G= (p.Val315=) c.*156G= (n.*156G=) n.232G= c.811G= (p.Val271=) | |
| 1 | g.1787411C>G | CA337902220 | GNB1 | c.904G>C (p.Val302Leu) c.643G>C (p.Val215Leu) c.943G>C (p.Val315Leu) c.*156G>C (n.*156G>C) n.232G>C c.811G>C (p.Val271Leu) | |
| 1 | g.1787411C>T | CA337902221 | GNB1 | c.904G>A (p.Val302Ile) c.643G>A (p.Val215Ile) c.943G>A (p.Val315Ile) c.*156G>A (n.*156G>A) n.232G>A c.811G>A (p.Val271Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1787412G>A | CA531897 | GNB1 | c.903C>T (p.Arg301=) c.642C>T (p.Arg214=) c.942C>T (p.Arg314=) c.*155C>T (n.*155C>T) n.231C>T c.810C>T (p.Arg270=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1787412G>C | CA415402703 | GNB1 | c.903C>G (p.Arg301=) c.642C>G (p.Arg214=) c.942C>G (p.Arg314=) c.*155C>G (n.*155C>G) n.231C>G c.810C>G (p.Arg270=) | gnomAD v4 |
| 1 | g.1787412G= | CA1142162231 | GNB1 | c.903C= (p.Arg301=) c.642C= (p.Arg214=) c.942C= (p.Arg314=) c.*155C= (n.*155C=) n.231C= c.810C= (p.Arg270=) | |
| 1 | g.1787412G>T | CA415402704 | GNB1 | c.903C>A (p.Arg301=) c.642C>A (p.Arg214=) c.942C>A (p.Arg314=) c.*155C>A (n.*155C>A) n.231C>A c.810C>A (p.Arg270=) | |
| 1 | g.1787413C>A | CA337902222 | GNB1 | c.902G>T (p.Arg301Leu) c.641G>T (p.Arg214Leu) c.941G>T (p.Arg314Leu) c.*154G>T (n.*154G>T) n.230G>T c.809G>T (p.Arg270Leu) | |
| 1 | g.1787413C>G | CA337902223 | GNB1 | c.902G>C (p.Arg301Pro) c.641G>C (p.Arg214Pro) c.941G>C (p.Arg314Pro) c.*154G>C (n.*154G>C) n.230G>C c.809G>C (p.Arg270Pro) | |
| 1 | g.1787413C>T | CA337902224 | GNB1 | c.902G>A (p.Arg301His) c.641G>A (p.Arg214His) c.941G>A (p.Arg314His) c.*154G>A (n.*154G>A) n.230G>A c.809G>A (p.Arg270His) | |
| 1 | g.1787414G>A | CA337902225 | GNB1 | c.901C>T (p.Arg301Cys) c.640C>T (p.Arg214Cys) c.940C>T (p.Arg314Cys) c.*153C>T (n.*153C>T) n.229C>T c.808C>T (p.Arg270Cys) | |
| 1 | g.1787414G>C | CA337902226 | GNB1 | c.901C>G (p.Arg301Gly) c.640C>G (p.Arg214Gly) c.940C>G (p.Arg314Gly) c.*153C>G (n.*153C>G) n.229C>G c.808C>G (p.Arg270Gly) | |
| 1 | g.1787414G>T | CA337902227 | GNB1 | c.901C>A (p.Arg301Ser) c.640C>A (p.Arg214Ser) c.940C>A (p.Arg314Ser) c.*153C>A (n.*153C>A) n.229C>A c.808C>A (p.Arg270Ser) | |
| 1 | g.1787415G>A | CA415402705 | GNB1 | c.900C>T (p.Asn300=) c.639C>T (p.Asn213=) c.939C>T (p.Asn313=) c.*152C>T (n.*152C>T) n.228C>T c.807C>T (p.Asn269=) | gnomAD v4 |
| 1 | g.1787415G>C | CA337902228 | GNB1 | c.900C>G (p.Asn300Lys) c.639C>G (p.Asn213Lys) c.939C>G (p.Asn313Lys) c.*152C>G (n.*152C>G) n.228C>G c.807C>G (p.Asn269Lys) | |
| 1 | g.1787415G>T | CA337902229 | GNB1 | c.900C>A (p.Asn300Lys) c.639C>A (p.Asn213Lys) c.939C>A (p.Asn313Lys) c.*152C>A (n.*152C>A) n.228C>A c.807C>A (p.Asn269Lys) | |
| 1 | g.1787416T>A | CA337902230 | GNB1 | c.899A>T (p.Asn300Ile) c.638A>T (p.Asn213Ile) c.938A>T (p.Asn313Ile) c.*151A>T (n.*151A>T) n.227A>T c.806A>T (p.Asn269Ile) | |
| 1 | g.1787416T>C | CA337902231 | GNB1 | c.899A>G (p.Asn300Ser) c.638A>G (p.Asn213Ser) c.938A>G (p.Asn313Ser) c.*151A>G (n.*151A>G) n.227A>G c.806A>G (p.Asn269Ser) | |
| 1 | g.1787416T>G | CA337902232 | GNB1 | c.899A>C (p.Asn300Thr) c.638A>C (p.Asn213Thr) c.938A>C (p.Asn313Thr) c.*151A>C (n.*151A>C) n.227A>C c.806A>C (p.Asn269Thr) | |
| 1 | g.1787417T>A | CA337902233 | GNB1 | c.898A>T (p.Asn300Tyr) c.637A>T (p.Asn213Tyr) c.937A>T (p.Asn313Tyr) c.*150A>T (n.*150A>T) n.226A>T c.805A>T (p.Asn269Tyr) | |
| 1 | g.1787417T>C | CA337902234 | GNB1 | c.898A>G (p.Asn300Asp) c.637A>G (p.Asn213Asp) c.937A>G (p.Asn313Asp) c.*150A>G (n.*150A>G) n.226A>G c.805A>G (p.Asn269Asp) | |
| 1 | g.1787417T>G | CA337902235 | GNB1 | c.898A>C (p.Asn300His) c.637A>C (p.Asn213His) c.937A>C (p.Asn313His) c.*150A>C (n.*150A>C) n.226A>C c.805A>C (p.Asn269His) | |
| 1 | g.1787418G>A | CA415402706 | GNB1 | c.897C>T (p.Asp299=) c.636C>T (p.Asp212=) c.936C>T (p.Asp312=) c.*149C>T (n.*149C>T) n.225C>T c.804C>T (p.Asp268=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1787418G>C | CA337902237 | GNB1 | c.897C>G (p.Asp299Glu) c.636C>G (p.Asp212Glu) c.936C>G (p.Asp312Glu) c.*149C>G (n.*149C>G) n.225C>G c.804C>G (p.Asp268Glu) | |
| 1 | g.1787418G= | CA1149300036 | GNB1 | c.897C= (p.Asp299=) c.636C= (p.Asp212=) c.936C= (p.Asp312=) c.*149C= (n.*149C=) n.225C= c.804C= (p.Asp268=) | |
| 1 | g.1787418G>T | CA337902238 | GNB1 | c.897C>A (p.Asp299Glu) c.636C>A (p.Asp212Glu) c.936C>A (p.Asp312Glu) c.*149C>A (n.*149C>A) n.225C>A c.804C>A (p.Asp268Glu) | |
| 1 | g.1787419T>A | CA337902241 | GNB1 | c.896A>T (p.Asp299Val) c.635A>T (p.Asp212Val) c.935A>T (p.Asp312Val) c.*148A>T (n.*148A>T) n.224A>T c.803A>T (p.Asp268Val) | |
| 1 | g.1787419T>C | CA337902242 | GNB1 | c.896A>G (p.Asp299Gly) c.635A>G (p.Asp212Gly) c.935A>G (p.Asp312Gly) c.*148A>G (n.*148A>G) n.224A>G c.803A>G (p.Asp268Gly) | |
| 1 | g.1787419T>G | CA337902244 | GNB1 | c.896A>C (p.Asp299Ala) c.635A>C (p.Asp212Ala) c.935A>C (p.Asp312Ala) c.*148A>C (n.*148A>C) n.224A>C c.803A>C (p.Asp268Ala) | |
| 1 | g.1787420C>A | CA337902246 | GNB1 | c.895G>T (p.Asp299Tyr) c.634G>T (p.Asp212Tyr) c.934G>T (p.Asp312Tyr) c.*147G>T (n.*147G>T) n.223G>T c.802G>T (p.Asp268Tyr) | |
| 1 | g.1787420C>G | CA337902248 | GNB1 | c.895G>C (p.Asp299His) c.634G>C (p.Asp212His) c.934G>C (p.Asp312His) c.*147G>C (n.*147G>C) n.223G>C c.802G>C (p.Asp268His) | |
| 1 | g.1787420C>T | CA337902249 | GNB1 | c.895G>A (p.Asp299Asn) c.634G>A (p.Asp212Asn) c.934G>A (p.Asp312Asn) c.*147G>A (n.*147G>A) n.223G>A c.802G>A (p.Asp268Asn) | |
| 1 | g.1787421A>C | CA337902251 | GNB1 | c.894T>G (p.His298Gln) c.633T>G (p.His211Gln) c.933T>G (p.His311Gln) c.*146T>G (n.*146T>G) n.222T>G c.801T>G (p.His267Gln) | |
| 1 | g.1787421A>G | CA415402707 | GNB1 | c.894T>C (p.His298=) c.633T>C (p.His211=) c.933T>C (p.His311=) c.*146T>C (n.*146T>C) n.222T>C c.801T>C (p.His267=) | gnomAD v4 |
| 1 | g.1787421A>T | CA337902253 | GNB1 | c.894T>A (p.His298Gln) c.633T>A (p.His211Gln) c.933T>A (p.His311Gln) c.*146T>A (n.*146T>A) n.222T>A c.801T>A (p.His267Gln) | |
| 1 | g.1787422T>A | CA337902255 | GNB1 | c.893A>T (p.His298Leu) c.632A>T (p.His211Leu) c.932A>T (p.His311Leu) c.*145A>T (n.*145A>T) n.221A>T c.800A>T (p.His267Leu) | |
| 1 | g.1787422T>C | CA337902257 | GNB1 | c.893A>G (p.His298Arg) c.632A>G (p.His211Arg) c.932A>G (p.His311Arg) c.*145A>G (n.*145A>G) n.221A>G c.800A>G (p.His267Arg) | |
| 1 | g.1787422T>G | CA337902259 | GNB1 | c.893A>C (p.His298Pro) c.632A>C (p.His211Pro) c.932A>C (p.His311Pro) c.*145A>C (n.*145A>C) n.221A>C c.800A>C (p.His267Pro) | |
| 1 | g.1787423G>A | CA337902261 | GNB1 | c.892C>T (p.His298Tyr) c.631C>T (p.His211Tyr) c.931C>T (p.His311Tyr) c.*144C>T (n.*144C>T) n.220C>T c.799C>T (p.His267Tyr) | gnomAD v4 |
| 1 | g.1787423G>C | CA337902262 | GNB1 | c.892C>G (p.His298Asp) c.631C>G (p.His211Asp) c.931C>G (p.His311Asp) c.*144C>G (n.*144C>G) n.220C>G c.799C>G (p.His267Asp) | |
| 1 | g.1787423G>T | CA337902264 | GNB1 | c.892C>A (p.His298Asn) c.631C>A (p.His211Asn) c.931C>A (p.His311Asn) c.*144C>A (n.*144C>A) n.220C>A c.799C>A (p.His267Asn) | gnomAD v4 |
| 1 | g.1787424C>A | CA531898 | GNB1 | c.891G>T (p.Gly297=) c.630G>T (p.Gly210=) c.930G>T (p.Gly310=) c.*143G>T (n.*143G>T) n.219G>T c.798G>T (p.Gly266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.1787424C= | CA1149300047 | GNB1 | c.891G= (p.Gly297=) c.630G= (p.Gly210=) c.930G= (p.Gly310=) c.*143G= (n.*143G=) n.219G= c.798G= (p.Gly266=) | |
| 1 | g.1787424C>G | CA415402708 | GNB1 | c.891G>C (p.Gly297=) c.630G>C (p.Gly210=) c.930G>C (p.Gly310=) c.*143G>C (n.*143G>C) n.219G>C c.798G>C (p.Gly266=) | |
| 1 | g.1787424C>T | CA415402709 | GNB1 | c.891G>A (p.Gly297=) c.630G>A (p.Gly210=) c.930G>A (p.Gly310=) c.*143G>A (n.*143G>A) n.219G>A c.798G>A (p.Gly266=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1787425C>A | CA337902272 | GNB1 | c.890G>T (p.Gly297Val) c.629G>T (p.Gly210Val) c.929G>T (p.Gly310Val) c.*142G>T (n.*142G>T) n.218G>T c.797G>T (p.Gly266Val) | |
| 1 | g.1787425C>G | CA337902274 | GNB1 | c.890G>C (p.Gly297Ala) c.629G>C (p.Gly210Ala) c.929G>C (p.Gly310Ala) c.*142G>C (n.*142G>C) n.218G>C c.797G>C (p.Gly266Ala) | |
| 1 | g.1787425C>T | CA337902276 | GNB1 | c.890G>A (p.Gly297Glu) c.629G>A (p.Gly210Glu) c.929G>A (p.Gly310Glu) c.*142G>A (n.*142G>A) n.218G>A c.797G>A (p.Gly266Glu) | |
| 1 | g.1787426C>A | CA337902279 | GNB1 | c.889G>T (p.Gly297Trp) c.628G>T (p.Gly210Trp) c.928G>T (p.Gly310Trp) c.*141G>T (n.*141G>T) n.217G>T c.796G>T (p.Gly266Trp) | |
| 1 | g.1787426C>G | CA337902280 | GNB1 | c.889G>C (p.Gly297Arg) c.628G>C (p.Gly210Arg) c.928G>C (p.Gly310Arg) c.*141G>C (n.*141G>C) n.217G>C c.796G>C (p.Gly266Arg) | |
| 1 | g.1787426C>T | CA337902282 | GNB1 | c.889G>A (p.Gly297Arg) c.628G>A (p.Gly210Arg) c.928G>A (p.Gly310Arg) c.*141G>A (n.*141G>A) n.217G>A c.796G>A (p.Gly266Arg) | |
| 1 | g.1787427A>C | CA415402710 | GNB1 | c.888T>G (p.Ala296=) c.627T>G (p.Ala209=) c.927T>G (p.Ala309=) c.*140T>G (n.*140T>G) n.216T>G c.795T>G (p.Ala265=) | |
| 1 | g.1787427A>G | CA415402711 | GNB1 | c.888T>C (p.Ala296=) c.627T>C (p.Ala209=) c.927T>C (p.Ala309=) c.*140T>C (n.*140T>C) n.216T>C c.795T>C (p.Ala265=) | |
| 1 | g.1787427A>T | CA415402712 | GNB1 | c.888T>A (p.Ala296=) c.627T>A (p.Ala209=) c.927T>A (p.Ala309=) c.*140T>A (n.*140T>A) n.216T>A c.795T>A (p.Ala265=) | |
| 1 | g.1787428G>A | CA337902286 | GNB1 | c.887C>T (p.Ala296Val) c.626C>T (p.Ala209Val) c.926C>T (p.Ala309Val) c.*139C>T (n.*139C>T) n.215C>T c.794C>T (p.Ala265Val) | |
| 1 | g.1787428G>C | CA337902288 | GNB1 | c.887C>G (p.Ala296Gly) c.626C>G (p.Ala209Gly) c.926C>G (p.Ala309Gly) c.*139C>G (n.*139C>G) n.215C>G c.794C>G (p.Ala265Gly) | |
| 1 | g.1787428G>T | CA337902284 | GNB1 | c.887C>A (p.Ala296Asp) c.626C>A (p.Ala209Asp) c.926C>A (p.Ala309Asp) c.*139C>A (n.*139C>A) n.215C>A c.794C>A (p.Ala265Asp) | |
| 1 | g.1787429C>A | CA531899 | GNB1 | c.886G>T (p.Ala296Ser) c.625G>T (p.Ala209Ser) c.925G>T (p.Ala309Ser) c.*138G>T (n.*138G>T) n.214G>T c.793G>T (p.Ala265Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1787429C= | CA1143761942 | GNB1 | c.886G= (p.Ala296=) c.625G= (p.Ala209=) c.925G= (p.Ala309=) c.*138G= (n.*138G=) n.214G= c.793G= (p.Ala265=) | |
| 1 | g.1787429C>G | CA337902290 | GNB1 | c.886G>C (p.Ala296Pro) c.625G>C (p.Ala209Pro) c.925G>C (p.Ala309Pro) c.*138G>C (n.*138G>C) n.214G>C c.793G>C (p.Ala265Pro) | |
| 1 | g.1787429C>T | CA16818092 | GNB1 | c.886G>A (p.Ala296Thr) c.625G>A (p.Ala209Thr) c.925G>A (p.Ala309Thr) c.*138G>A (n.*138G>A) n.214G>A c.793G>A (p.Ala265Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1787430C>A | CA337902295 | GNB1 | c.885G>T (p.Leu295Phe) c.624G>T (p.Leu208Phe) c.924G>T (p.Leu308Phe) c.*137G>T (n.*137G>T) n.213G>T c.792G>T (p.Leu264Phe) | |
| 1 | g.1787430C>G | CA337902297 | GNB1 | c.885G>C (p.Leu295Phe) c.624G>C (p.Leu208Phe) c.924G>C (p.Leu308Phe) c.*137G>C (n.*137G>C) n.213G>C c.792G>C (p.Leu264Phe) | |
| 1 | g.1787430C>T | CA415402713 | GNB1 | c.885G>A (p.Leu295=) c.624G>A (p.Leu208=) c.924G>A (p.Leu308=) c.*137G>A (n.*137G>A) n.213G>A c.792G>A (p.Leu264=) | gnomAD v4 |
| 1 | g.1787431A>C | CA337902299 | GNB1 | c.884T>G (p.Leu295Trp) c.623T>G (p.Leu208Trp) c.923T>G (p.Leu308Trp) c.*136T>G (n.*136T>G) n.212T>G c.791T>G (p.Leu264Trp) | |
| 1 | g.1787431A>G | CA337902302 | GNB1 | c.884T>C (p.Leu295Ser) c.623T>C (p.Leu208Ser) c.923T>C (p.Leu308Ser) c.*136T>C (n.*136T>C) n.212T>C c.791T>C (p.Leu264Ser) | |
| 1 | g.1787431A>T | CA337902304 | GNB1 | c.884T>A (p.Leu295Ter) c.623T>A (p.Leu208Ter) c.923T>A (p.Leu308Ter) c.*136T>A (n.*136T>A) n.212T>A c.791T>A (p.Leu264Ter) | |
| 1 | g.1787432A>C | CA337902305 | GNB1 | c.883T>G (p.Leu295Val) c.622T>G (p.Leu208Val) c.922T>G (p.Leu308Val) c.*135T>G (n.*135T>G) n.211T>G c.790T>G (p.Leu264Val) | |
| 1 | g.1787432A>G | CA415402714 | GNB1 | c.883T>C (p.Leu295=) c.622T>C (p.Leu208=) c.922T>C (p.Leu308=) c.*135T>C (n.*135T>C) n.211T>C c.790T>C (p.Leu264=) | |
| 1 | g.1787432A>T | CA337902306 | GNB1 | c.883T>A (p.Leu295Met) c.622T>A (p.Leu208Met) c.922T>A (p.Leu308Met) c.*135T>A (n.*135T>A) n.211T>A c.790T>A (p.Leu264Met) | gnomAD v4 |
| 1 | g.1787433G>A | CA415402715 | GNB1 | c.882C>T (p.Val294=) c.621C>T (p.Val207=) c.921C>T (p.Val307=) c.*134C>T (n.*134C>T) n.210C>T c.789C>T (p.Val263=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1787433G>C | CA415402716 | GNB1 | c.882C>G (p.Val294=) c.621C>G (p.Val207=) c.921C>G (p.Val307=) c.*134C>G (n.*134C>G) n.210C>G c.789C>G (p.Val263=) | |
| 1 | g.1787433G= | CA1149300066 | GNB1 | c.882C= (p.Val294=) c.621C= (p.Val207=) c.921C= (p.Val307=) c.*134C= (n.*134C=) n.210C= c.789C= (p.Val263=) | |
| 1 | g.1787433G>T | CA415402717 | GNB1 | c.882C>A (p.Val294=) c.621C>A (p.Val207=) c.921C>A (p.Val307=) c.*134C>A (n.*134C>A) n.210C>A c.789C>A (p.Val263=) | |
| 1 | g.1787434A>C | CA337902309 | GNB1 | c.881T>G (p.Val294Gly) c.620T>G (p.Val207Gly) c.920T>G (p.Val307Gly) c.*133T>G (n.*133T>G) n.209T>G c.788T>G (p.Val263Gly) | |
| 1 | g.1787434A>G | CA337902311 | GNB1 | c.881T>C (p.Val294Ala) c.620T>C (p.Val207Ala) c.920T>C (p.Val307Ala) c.*133T>C (n.*133T>C) n.209T>C c.788T>C (p.Val263Ala) | |
| 1 | g.1787434A>T | CA337902312 | GNB1 | c.881T>A (p.Val294Asp) c.620T>A (p.Val207Asp) c.920T>A (p.Val307Asp) c.*133T>A (n.*133T>A) n.209T>A c.788T>A (p.Val263Asp) | |
| 1 | g.1787435C>A | CA337902314 | GNB1 | c.880G>T (p.Val294Phe) c.619G>T (p.Val207Phe) c.919G>T (p.Val307Phe) c.*132G>T (n.*132G>T) n.208G>T c.787G>T (p.Val263Phe) | |
| 1 | g.1787435C>G | CA337902315 | GNB1 | c.880G>C (p.Val294Leu) c.619G>C (p.Val207Leu) c.919G>C (p.Val307Leu) c.*132G>C (n.*132G>C) n.208G>C c.787G>C (p.Val263Leu) | |
| 1 | g.1787435C>T | CA337902317 | GNB1 | c.880G>A (p.Val294Ile) c.619G>A (p.Val207Ile) c.919G>A (p.Val307Ile) c.*132G>A (n.*132G>A) n.208G>A c.787G>A (p.Val263Ile) | gnomAD v4 |
| 1 | g.1787436A>C | CA415402718 | GNB1 | c.879T>G (p.Gly293=) c.618T>G (p.Gly206=) c.918T>G (p.Gly306=) c.*131T>G (n.*131T>G) n.207T>G c.786T>G (p.Gly262=) | |
| 1 | g.1787436A>G | CA415402720 | GNB1 | c.879T>C (p.Gly293=) c.618T>C (p.Gly206=) c.918T>C (p.Gly306=) c.*131T>C (n.*131T>C) n.207T>C c.786T>C (p.Gly262=) | |
| 1 | g.1787436A>T | CA415402719 | GNB1 | c.879T>A (p.Gly293=) c.618T>A (p.Gly206=) c.918T>A (p.Gly306=) c.*131T>A (n.*131T>A) n.207T>A c.786T>A (p.Gly262=) | |
| 1 | g.1787437C>A | CA337902324 | GNB1 | c.878G>T (p.Gly293Val) c.617G>T (p.Gly206Val) c.917G>T (p.Gly306Val) c.*130G>T (n.*130G>T) n.206G>T c.785G>T (p.Gly262Val) | |
| 1 | g.1787437C>G | CA337902320 | GNB1 | c.878G>C (p.Gly293Ala) c.617G>C (p.Gly206Ala) c.917G>C (p.Gly306Ala) c.*130G>C (n.*130G>C) n.206G>C c.785G>C (p.Gly262Ala) | |
| 1 | g.1787437C>T | CA337902322 | GNB1 | c.878G>A (p.Gly293Asp) c.617G>A (p.Gly206Asp) c.917G>A (p.Gly306Asp) c.*130G>A (n.*130G>A) n.206G>A c.785G>A (p.Gly262Asp) | |
| 1 | g.1787438C>A | CA337902326 | GNB1 | c.878-1G>T (n.878-1G>T) c.617-1G>T (n.617-1G>T) c.917-1G>T (n.917-1G>T) c.*130-1G>T (n.*130-1G>T) n.206-1G>T c.785-1G>T (n.785-1G>T) | ClinVar dbSNP |
| 1 | g.1787438C>G | CA337902327 | GNB1 | c.878-1G>C (n.878-1G>C) c.617-1G>C (n.617-1G>C) c.917-1G>C (n.917-1G>C) c.*130-1G>C (n.*130-1G>C) n.206-1G>C c.785-1G>C (n.785-1G>C) | |
| 1 | g.1787438C>T | CA337902329 | GNB1 | c.878-1G>A (n.878-1G>A) c.617-1G>A (n.617-1G>A) c.917-1G>A (n.917-1G>A) c.*130-1G>A (n.*130-1G>A) n.206-1G>A c.785-1G>A (n.785-1G>A) | |
| 1 | g.1787439T>A | CA337902331 | GNB1 | c.878-2A>T (n.878-2A>T) c.617-2A>T (n.617-2A>T) c.917-2A>T (n.917-2A>T) c.*130-2A>T (n.*130-2A>T) n.206-2A>T c.785-2A>T (n.785-2A>T) | |
| 1 | g.1787439T>C | CA337902333 | GNB1 | c.878-2A>G (n.878-2A>G) c.617-2A>G (n.617-2A>G) c.917-2A>G (n.917-2A>G) c.*130-2A>G (n.*130-2A>G) n.206-2A>G c.785-2A>G (n.785-2A>G) | ClinVar dbSNP |
| 1 | g.1787439T>G | CA337902335 | GNB1 | c.878-2A>C (n.878-2A>C) c.617-2A>C (n.617-2A>C) c.917-2A>C (n.917-2A>C) c.*130-2A>C (n.*130-2A>C) n.206-2A>C c.785-2A>C (n.785-2A>C) | |
| 1 | g.1787440G>A | CA2642665378 | GNB1 | c.878-3C>T (n.878-3C>T) c.617-3C>T (n.617-3C>T) c.917-3C>T (n.917-3C>T) c.*130-3C>T (n.*130-3C>T) n.206-3C>T c.785-3C>T (n.785-3C>T) | gnomAD v4 |
| 1 | g.1787440G>T | CA2574174765 | GNB1 | c.878-3C>A (n.878-3C>A) c.617-3C>A (n.617-3C>A) c.917-3C>A (n.917-3C>A) c.*130-3C>A (n.*130-3C>A) n.206-3C>A c.785-3C>A (n.785-3C>A) | gnomAD v4 |
| 1 | g.1787442del | CA2574174764 | GNB1 | c.878-3del (n.878-3del) c.617-3del (n.617-3del) c.917-3del (n.917-3del) c.*130-3del (n.*130-3del) n.206-3del c.785-3del (n.785-3del) | gnomAD v4 |
| 1 | g.1787440_1787441insCTCTGTCAGCTTTGAGTGCATCCCAGACATTACAGTTGAAGTCATCATACCCAGCAAGGA | CA2742163255 | GNB1 | c.878-4_878-3insTCCTTGCTGGGTATGATGACTTCAACTGTAATGTCTGGGATGCACTCAAAGCTGACAGAG (n.878-4_878-3insTCCTTGCTGGGTATGATGACTTCAACTGTAATGTCTGGGATGCACTCAAAGCTGACAGAG) c.617-4_617-3insTCCTTGCTGGGTATGATGACTTCAACTGTAATGTCTGGGATGCACTCAAAGCTGACAGAG (n.617-4_617-3insTCCTTGCTGGGTATGATGACTTCAACTGTAATGTCTGGGATGCACTCAAAGCTGACAGAG) c.917-4_917-3insTCCTTGCTGGGTATGATGACTTCAACTGTAATGTCTGGGATGCACTCAAAGCTGACAGAG (n.917-4_917-3insTCCTTGCTGGGTATGATGACTTCAACTGTAATGTCTGGGATGCACTCAAAGCTGACAGAG) c.*130-4_*130-3insTCCTTGCTGGGTATGATGACTTCAACTGTAATGTCTGGGATGCACTCAAAGCTGACAGAG (n.*130-4_*130-3insTCCTTGCTGGGTATGATGACTTCAACTGTAATGTCTGGGATGCACTCAAAGCTGACAGAG) n.206-4_206-3insTCCTTGCTGGGTATGATGACTTCAACTGTAATGTCTGGGATGCACTCAAAGCTGACAGAG c.785-4_785-3insTCCTTGCTGGGTATGATGACTTCAACTGTAATGTCTGGGATGCACTCAAAGCTGACAGAG (n.785-4_785-3insTCCTTGCTGGGTATGATGACTTCAACTGTAATGTCTGGGATGCACTCAAAGCTGACAGAG) | |
| 1 | g.1787441G>A | CA2642665379 | GNB1 | c.878-4C>T (n.878-4C>T) c.617-4C>T (n.617-4C>T) c.917-4C>T (n.917-4C>T) c.*130-4C>T (n.*130-4C>T) n.206-4C>T c.785-4C>T (n.785-4C>T) | gnomAD v4 |
| 1 | g.1787441G>T | CA2642665380 | GNB1 | c.878-4C>A (n.878-4C>A) c.617-4C>A (n.617-4C>A) c.917-4C>A (n.917-4C>A) c.*130-4C>A (n.*130-4C>A) n.206-4C>A c.785-4C>A (n.785-4C>A) | gnomAD v4 |
| 1 | g.1787442G>A | CA2580060437 | GNB1 | c.878-5C>T (n.878-5C>T) c.617-5C>T (n.617-5C>T) c.917-5C>T (n.917-5C>T) c.*130-5C>T (n.*130-5C>T) n.206-5C>T c.785-5C>T (n.785-5C>T) | ClinVar gnomAD v4 |
| 1 | g.1787442G>C | CA2642665381 | GNB1 | c.878-5C>G (n.878-5C>G) c.617-5C>G (n.617-5C>G) c.917-5C>G (n.917-5C>G) c.*130-5C>G (n.*130-5C>G) n.206-5C>G c.785-5C>G (n.785-5C>G) | gnomAD v4 |
| 1 | g.1787442G>T | CA2642665382 | GNB1 | c.878-5C>A (n.878-5C>A) c.617-5C>A (n.617-5C>A) c.917-5C>A (n.917-5C>A) c.*130-5C>A (n.*130-5C>A) n.206-5C>A c.785-5C>A (n.785-5C>A) | gnomAD v4 |
| 1 | g.1787444G>A | CA520633246 | GNB1 | c.878-7C>T (n.878-7C>T) c.617-7C>T (n.617-7C>T) c.917-7C>T (n.917-7C>T) c.*130-7C>T (n.*130-7C>T) n.206-7C>T c.785-7C>T (n.785-7C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1787444G= | CA1149300075 | GNB1 | c.878-7C= (n.878-7C=) c.617-7C= (n.617-7C=) c.917-7C= (n.917-7C=) c.*130-7C= (n.*130-7C=) n.206-7C= c.785-7C= (n.785-7C=) | |
| 1 | g.1787444G>T | CA2574174769 | GNB1 | c.878-7C>A (n.878-7C>A) c.617-7C>A (n.617-7C>A) c.917-7C>A (n.917-7C>A) c.*130-7C>A (n.*130-7C>A) n.206-7C>A c.785-7C>A (n.785-7C>A) | gnomAD v4 |
| 1 | g.1787444_1787445delinsAA | CA2573130661 | GNB1 | c.878-8_878-7delinsTT (n.878-8_878-7delinsTT) c.617-8_617-7delinsTT (n.617-8_617-7delinsTT) c.917-8_917-7delinsTT (n.917-8_917-7delinsTT) c.*130-8_*130-7delinsTT (n.*130-8_*130-7delinsTT) n.206-8_206-7delinsTT c.785-8_785-7delinsTT (n.785-8_785-7delinsTT) | ClinVar dbSNP |
| 1 | g.1787445C>A | CA520633247 | GNB1 | c.878-8G>T (n.878-8G>T) c.617-8G>T (n.617-8G>T) c.917-8G>T (n.917-8G>T) c.*130-8G>T (n.*130-8G>T) n.206-8G>T c.785-8G>T (n.785-8G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1787445C= | CA1149300085 | GNB1 | c.878-8G= (n.878-8G=) c.617-8G= (n.617-8G=) c.917-8G= (n.917-8G=) c.*130-8G= (n.*130-8G=) n.206-8G= c.785-8G= (n.785-8G=) | |
| 1 | g.1787445C>T | CA2642665383 | GNB1 | c.878-8G>A (n.878-8G>A) c.617-8G>A (n.617-8G>A) c.917-8G>A (n.917-8G>A) c.*130-8G>A (n.*130-8G>A) n.206-8G>A c.785-8G>A (n.785-8G>A) | gnomAD v4 |
| 1 | g.1787445_1787447del | CA2574174773 | GNB1 | c.878-10_878-8del (n.878-10_878-8del) c.617-10_617-8del (n.617-10_617-8del) c.917-10_917-8del (n.917-10_917-8del) c.*130-10_*130-8del (n.*130-10_*130-8del) n.206-10_206-8del c.785-10_785-8del (n.785-10_785-8del) | |
| 1 | g.1787446A= | CA1149300088 | GNB1 | c.878-9T= (n.878-9T=) c.617-9T= (n.617-9T=) c.917-9T= (n.917-9T=) c.*130-9T= (n.*130-9T=) n.206-9T= c.785-9T= (n.785-9T=) | |
| 1 | g.1787446A>G | CA891683850 | GNB1 | c.878-9T>C (n.878-9T>C) c.617-9T>C (n.617-9T>C) c.917-9T>C (n.917-9T>C) c.*130-9T>C (n.*130-9T>C) n.206-9T>C c.785-9T>C (n.785-9T>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.1787447A>G | CA2642665385 | GNB1 | c.878-10T>C (n.878-10T>C) c.617-10T>C (n.617-10T>C) c.917-10T>C (n.917-10T>C) c.*130-10T>C (n.*130-10T>C) n.206-10T>C c.785-10T>C (n.785-10T>C) | gnomAD v4 |
| 1 | g.1787451_1787453del | CA2642665384 | GNB1 | c.878-12_878-10del (n.878-12_878-10del) c.617-12_617-10del (n.617-12_617-10del) c.917-12_917-10del (n.917-12_917-10del) c.*130-12_*130-10del (n.*130-12_*130-10del) n.206-12_206-10del c.785-12_785-10del (n.785-12_785-10del) | gnomAD v4 |
| 1 | g.1787448A>G | CA2574174778 | GNB1 | c.878-11T>C (n.878-11T>C) c.617-11T>C (n.617-11T>C) c.917-11T>C (n.917-11T>C) c.*130-11T>C (n.*130-11T>C) n.206-11T>C c.785-11T>C (n.785-11T>C) | gnomAD v4 |
| 1 | g.1787449del | CA2642665386 | GNB1 | c.878-12del (n.878-12del) c.617-12del (n.617-12del) c.917-12del (n.917-12del) c.*130-12del (n.*130-12del) n.206-12del c.785-12del (n.785-12del) | gnomAD v4 |
| 1 | g.1787449C= | CA1149300091 | GNB1 | c.878-12G= (n.878-12G=) c.617-12G= (n.617-12G=) c.917-12G= (n.917-12G=) c.*130-12G= (n.*130-12G=) n.206-12G= c.785-12G= (n.785-12G=) | |
| 1 | g.1787449C>G | CA531900 | GNB1 | c.878-12G>C (n.878-12G>C) c.617-12G>C (n.617-12G>C) c.917-12G>C (n.917-12G>C) c.*130-12G>C (n.*130-12G>C) n.206-12G>C c.785-12G>C (n.785-12G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1787449C>T | CA2574174787 | GNB1 | c.878-12G>A (n.878-12G>A) c.617-12G>A (n.617-12G>A) c.917-12G>A (n.917-12G>A) c.*130-12G>A (n.*130-12G>A) n.206-12G>A c.785-12G>A (n.785-12G>A) | gnomAD v4 |
| 1 | g.1787451dup | CA2574174792 | GNB1 | c.878-13dup (n.878-13dup) c.617-13dup (n.617-13dup) c.917-13dup (n.917-13dup) c.*130-13dup (n.*130-13dup) n.206-13dup c.785-13dup (n.785-13dup) | |
| 1 | g.1787451A= | CA1149300093 | GNB1 | c.878-14T= (n.878-14T=) c.617-14T= (n.617-14T=) c.917-14T= (n.917-14T=) c.*130-14T= (n.*130-14T=) n.206-14T= c.785-14T= (n.785-14T=) | |
| 1 | g.1787451A>G | CA520633248 | GNB1 | c.878-14T>C (n.878-14T>C) c.617-14T>C (n.617-14T>C) c.917-14T>C (n.917-14T>C) c.*130-14T>C (n.*130-14T>C) n.206-14T>C c.785-14T>C (n.785-14T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1787452C>T | CA2642665387 | GNB1 | c.878-15G>A (n.878-15G>A) c.617-15G>A (n.617-15G>A) c.917-15G>A (n.917-15G>A) c.*130-15G>A (n.*130-15G>A) n.206-15G>A c.785-15G>A (n.785-15G>A) | gnomAD v4 |
| 1 | g.1787453A>G | CA2642665388 | GNB1 | c.878-16T>C (n.878-16T>C) c.617-16T>C (n.617-16T>C) c.917-16T>C (n.917-16T>C) c.*130-16T>C (n.*130-16T>C) n.206-16T>C c.785-16T>C (n.785-16T>C) | gnomAD v4 |
| 1 | g.1787453A>T | CA2642665389 | GNB1 | c.878-16T>A (n.878-16T>A) c.617-16T>A (n.617-16T>A) c.917-16T>A (n.917-16T>A) c.*130-16T>A (n.*130-16T>A) n.206-16T>A c.785-16T>A (n.785-16T>A) | gnomAD v4 |
| 1 | g.1787454G>A | CA520633249 | GNB1 | c.878-17C>T (n.878-17C>T) c.617-17C>T (n.617-17C>T) c.917-17C>T (n.917-17C>T) c.*130-17C>T (n.*130-17C>T) n.206-17C>T c.785-17C>T (n.785-17C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1787454G= | CA1149300103 | GNB1 | c.878-17C= (n.878-17C=) c.617-17C= (n.617-17C=) c.917-17C= (n.917-17C=) c.*130-17C= (n.*130-17C=) n.206-17C= c.785-17C= (n.785-17C=) | |
| 1 | g.1787454G>T | CA2574174798 | GNB1 | c.878-17C>A (n.878-17C>A) c.617-17C>A (n.617-17C>A) c.917-17C>A (n.917-17C>A) c.*130-17C>A (n.*130-17C>A) n.206-17C>A c.785-17C>A (n.785-17C>A) | gnomAD v4 |
| 1 | g.1787455C= | CA1149300113 | GNB1 | c.878-18G= (n.878-18G=) c.617-18G= (n.617-18G=) c.917-18G= (n.917-18G=) c.*130-18G= (n.*130-18G=) n.206-18G= c.785-18G= (n.785-18G=) | |
| 1 | g.1787455C>G | CA16818107 | GNB1 | c.878-18G>C (n.878-18G>C) c.617-18G>C (n.617-18G>C) c.917-18G>C (n.917-18G>C) c.*130-18G>C (n.*130-18G>C) n.206-18G>C c.785-18G>C (n.785-18G>C) | dbSNP gnomAD v2 |
| 1 | g.1787455C>T | CA1149300109 | GNB1 | c.878-18G>A (n.878-18G>A) c.617-18G>A (n.617-18G>A) c.917-18G>A (n.917-18G>A) c.*130-18G>A (n.*130-18G>A) n.206-18G>A c.785-18G>A (n.785-18G>A) | dbSNP gnomAD v4 |
| 1 | g.1787456A= | CA1149300114 | GNB1 | c.878-19T= (n.878-19T=) c.617-19T= (n.617-19T=) c.917-19T= (n.917-19T=) c.*130-19T= (n.*130-19T=) n.206-19T= c.785-19T= (n.785-19T=) | |
| 1 | g.1787456A>C | CA520633250 | GNB1 | c.878-19T>G (n.878-19T>G) c.617-19T>G (n.617-19T>G) c.917-19T>G (n.917-19T>G) c.*130-19T>G (n.*130-19T>G) n.206-19T>G c.785-19T>G (n.785-19T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1787456A>G | CA2642665390 | GNB1 | c.878-19T>C (n.878-19T>C) c.617-19T>C (n.617-19T>C) c.917-19T>C (n.917-19T>C) c.*130-19T>C (n.*130-19T>C) n.206-19T>C c.785-19T>C (n.785-19T>C) | gnomAD v4 |
| 1 | g.1787457G>A | CA2642665391 | GNB1 | c.878-20C>T (n.878-20C>T) c.617-20C>T (n.617-20C>T) c.917-20C>T (n.917-20C>T) c.*130-20C>T (n.*130-20C>T) n.206-20C>T c.785-20C>T (n.785-20C>T) | gnomAD v4 |
| 1 | g.1787457G>T | CA2642665392 | GNB1 | c.878-20C>A (n.878-20C>A) c.617-20C>A (n.617-20C>A) c.917-20C>A (n.917-20C>A) c.*130-20C>A (n.*130-20C>A) n.206-20C>A c.785-20C>A (n.785-20C>A) | gnomAD v4 |
| 1 | g.1787459A>G | CA2642665393 | GNB1 | c.878-22T>C (n.878-22T>C) c.617-22T>C (n.617-22T>C) c.917-22T>C (n.917-22T>C) c.*130-22T>C (n.*130-22T>C) n.206-22T>C c.785-22T>C (n.785-22T>C) | gnomAD v4 |
| 1 | g.1787460T>A | CA891683876 | GNB1 | c.878-23A>T (n.878-23A>T) c.617-23A>T (n.617-23A>T) c.917-23A>T (n.917-23A>T) c.*130-23A>T (n.*130-23A>T) n.206-23A>T c.785-23A>T (n.785-23A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1787460T>C | CA2642665394 | GNB1 | c.878-23A>G (n.878-23A>G) c.617-23A>G (n.617-23A>G) c.917-23A>G (n.917-23A>G) c.*130-23A>G (n.*130-23A>G) n.206-23A>G c.785-23A>G (n.785-23A>G) | gnomAD v4 |
| 1 | g.1787460T= | CA1149300115 | GNB1 | c.878-23A= (n.878-23A=) c.617-23A= (n.617-23A=) c.917-23A= (n.917-23A=) c.*130-23A= (n.*130-23A=) n.206-23A= c.785-23A= (n.785-23A=) | |
| 1 | g.1787461del | CA2574174803 | GNB1 | c.878-24del (n.878-24del) c.617-24del (n.617-24del) c.917-24del (n.917-24del) c.*130-24del (n.*130-24del) n.206-24del c.785-24del (n.785-24del) | |
| 1 | g.1787461C>A | CA2642665396 | GNB1 | c.878-24G>T (n.878-24G>T) c.617-24G>T (n.617-24G>T) c.917-24G>T (n.917-24G>T) c.*130-24G>T (n.*130-24G>T) n.206-24G>T c.785-24G>T (n.785-24G>T) | gnomAD v4 |
| 1 | g.1787461C>T | CA2642665397 | GNB1 | c.878-24G>A (n.878-24G>A) c.617-24G>A (n.617-24G>A) c.917-24G>A (n.917-24G>A) c.*130-24G>A (n.*130-24G>A) n.206-24G>A c.785-24G>A (n.785-24G>A) | gnomAD v4 |
| 1 | g.1787464_1787465del | CA2642665395 | GNB1 | c.878-25_878-24del (n.878-25_878-24del) c.617-25_617-24del (n.617-25_617-24del) c.917-25_917-24del (n.917-25_917-24del) c.*130-25_*130-24del (n.*130-25_*130-24del) n.206-25_206-24del c.785-25_785-24del (n.785-25_785-24del) | gnomAD v4 |
| 1 | g.1787462A= | CA1149300118 | GNB1 | c.878-25T= (n.878-25T=) c.617-25T= (n.617-25T=) c.917-25T= (n.917-25T=) c.*130-25T= (n.*130-25T=) n.206-25T= c.785-25T= (n.785-25T=) | |
| 1 | g.1787462A>G | CA531901 | GNB1 | c.878-25T>C (n.878-25T>C) c.617-25T>C (n.617-25T>C) c.917-25T>C (n.917-25T>C) c.*130-25T>C (n.*130-25T>C) n.206-25T>C c.785-25T>C (n.785-25T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.1787463C= | CA1149300120 | GNB1 | c.878-26G= (n.878-26G=) c.617-26G= (n.617-26G=) c.917-26G= (n.917-26G=) c.*130-26G= (n.*130-26G=) n.206-26G= c.785-26G= (n.785-26G=) | |
| 1 | g.1787463C>T | CA16818126 | GNB1 | c.878-26G>A (n.878-26G>A) c.617-26G>A (n.617-26G>A) c.917-26G>A (n.917-26G>A) c.*130-26G>A (n.*130-26G>A) n.206-26G>A c.785-26G>A (n.785-26G>A) | dbSNP gnomAD v4 |
| 1 | g.1787464A>G | CA2574174809 | GNB1 | c.878-27T>C (n.878-27T>C) c.617-27T>C (n.617-27T>C) c.917-27T>C (n.917-27T>C) c.*130-27T>C (n.*130-27T>C) n.206-27T>C c.785-27T>C (n.785-27T>C) | gnomAD v4 |
| 1 | g.1787465C>T | CA2642665398 | GNB1 | c.878-28G>A (n.878-28G>A) c.617-28G>A (n.617-28G>A) c.917-28G>A (n.917-28G>A) c.*130-28G>A (n.*130-28G>A) n.206-28G>A c.785-28G>A (n.785-28G>A) | gnomAD v4 |
| 1 | g.1787466C>A | CA2642665399 | GNB1 | c.878-29G>T (n.878-29G>T) c.617-29G>T (n.617-29G>T) c.917-29G>T (n.917-29G>T) c.*130-29G>T (n.*130-29G>T) n.206-29G>T c.785-29G>T (n.785-29G>T) | gnomAD v4 |
| 1 | g.1787467A>G | CA2642665401 | GNB1 | c.878-30T>C (n.878-30T>C) c.617-30T>C (n.617-30T>C) c.917-30T>C (n.917-30T>C) c.*130-30T>C (n.*130-30T>C) n.206-30T>C c.785-30T>C (n.785-30T>C) | gnomAD v4 |
| 1 | g.1787469del | CA2642665400 | GNB1 | c.878-30del (n.878-30del) c.617-30del (n.617-30del) c.917-30del (n.917-30del) c.*130-30del (n.*130-30del) n.206-30del c.785-30del (n.785-30del) | gnomAD v4 |
| 1 | g.1787468A>C | CA2642665402 | GNB1 | c.878-31T>G (n.878-31T>G) c.617-31T>G (n.617-31T>G) c.917-31T>G (n.917-31T>G) c.*130-31T>G (n.*130-31T>G) n.206-31T>G c.785-31T>G (n.785-31T>G) | gnomAD v4 |
| 1 | g.1787469A= | CA1149300122 | GNB1 | c.878-32T= (n.878-32T=) c.617-32T= (n.617-32T=) c.917-32T= (n.917-32T=) c.*130-32T= (n.*130-32T=) n.206-32T= c.785-32T= (n.785-32T=) | |
| 1 | g.1787469A>T | CA520633253 | GNB1 | c.878-32T>A (n.878-32T>A) c.617-32T>A (n.617-32T>A) c.917-32T>A (n.917-32T>A) c.*130-32T>A (n.*130-32T>A) n.206-32T>A c.785-32T>A (n.785-32T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1787469_1787470insCAC | CA2742163256 | GNB1 | c.878-33_878-32insGTG (n.878-33_878-32insGTG) c.617-33_617-32insGTG (n.617-33_617-32insGTG) c.917-33_917-32insGTG (n.917-33_917-32insGTG) c.*130-33_*130-32insGTG (n.*130-33_*130-32insGTG) n.206-33_206-32insGTG c.785-33_785-32insGTG (n.785-33_785-32insGTG) | |
| 1 | g.1787470G>A | CA2742163257 | GNB1 | c.878-33C>T (n.878-33C>T) c.617-33C>T (n.617-33C>T) c.917-33C>T (n.917-33C>T) c.*130-33C>T (n.*130-33C>T) n.206-33C>T c.785-33C>T (n.785-33C>T) | |
| 1 | g.1787470G>C | CA520633254 | GNB1 | c.878-33C>G (n.878-33C>G) c.617-33C>G (n.617-33C>G) c.917-33C>G (n.917-33C>G) c.*130-33C>G (n.*130-33C>G) n.206-33C>G c.785-33C>G (n.785-33C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1787470G= | CA1149300126 | GNB1 | c.878-33C= (n.878-33C=) c.617-33C= (n.617-33C=) c.917-33C= (n.917-33C=) c.*130-33C= (n.*130-33C=) n.206-33C= c.785-33C= (n.785-33C=) | |
| 1 | g.1787470G>T | CA1149300124 | GNB1 | c.878-33C>A (n.878-33C>A) c.617-33C>A (n.617-33C>A) c.917-33C>A (n.917-33C>A) c.*130-33C>A (n.*130-33C>A) n.206-33C>A c.785-33C>A (n.785-33C>A) | dbSNP gnomAD v4 |
| 1 | g.1787471C>T | CA2642665403 | GNB1 | c.878-34G>A (n.878-34G>A) c.617-34G>A (n.617-34G>A) c.917-34G>A (n.917-34G>A) c.*130-34G>A (n.*130-34G>A) n.206-34G>A c.785-34G>A (n.785-34G>A) | gnomAD v4 |
| 1 | g.1787472C>T | CA2642665404 | GNB1 | c.878-35G>A (n.878-35G>A) c.617-35G>A (n.617-35G>A) c.917-35G>A (n.917-35G>A) c.*130-35G>A (n.*130-35G>A) n.206-35G>A c.785-35G>A (n.785-35G>A) | gnomAD v4 |
| 1 | g.1787474_1787475insACACA | CA2742163258 | GNB1 | c.878-36_878-35insTGTTG (n.878-36_878-35insTGTTG) c.617-36_617-35insTGTTG (n.617-36_617-35insTGTTG) c.917-36_917-35insTGTTG (n.917-36_917-35insTGTTG) c.*130-36_*130-35insTGTTG (n.*130-36_*130-35insTGTTG) n.206-36_206-35insTGTTG c.785-36_785-35insTGTTG (n.785-36_785-35insTGTTG) | |
| 1 | g.1787474A>G | CA2574174812 | GNB1 | c.878-37T>C (n.878-37T>C) c.617-37T>C (n.617-37T>C) c.917-37T>C (n.917-37T>C) c.*130-37T>C (n.*130-37T>C) n.206-37T>C c.785-37T>C (n.785-37T>C) | |
| 1 | g.1787475G>A | CA2574174813 | GNB1 | c.878-38C>T (n.878-38C>T) c.617-38C>T (n.617-38C>T) c.917-38C>T (n.917-38C>T) c.*130-38C>T (n.*130-38C>T) n.206-38C>T c.785-38C>T (n.785-38C>T) | gnomAD v4 |
| 1 | g.1787475G>T | CA2642665405 | GNB1 | c.878-38C>A (n.878-38C>A) c.617-38C>A (n.617-38C>A) c.917-38C>A (n.917-38C>A) c.*130-38C>A (n.*130-38C>A) n.206-38C>A c.785-38C>A (n.785-38C>A) | gnomAD v4 |
| 1 | g.1787476A= | CA1149065238 | GNB1 | c.878-39T= (n.878-39T=) c.617-39T= (n.617-39T=) c.917-39T= (n.917-39T=) c.*130-39T= (n.*130-39T=) n.206-39T= c.785-39T= (n.785-39T=) | |
| 1 | g.1787476A>C | CA531902 | GNB1 | c.878-39T>G (n.878-39T>G) c.617-39T>G (n.617-39T>G) c.917-39T>G (n.917-39T>G) c.*130-39T>G (n.*130-39T>G) n.206-39T>G c.785-39T>G (n.785-39T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1787477G>A | CA520633255 | GNB1 | c.878-40C>T (n.878-40C>T) c.617-40C>T (n.617-40C>T) c.917-40C>T (n.917-40C>T) c.*130-40C>T (n.*130-40C>T) n.206-40C>T c.785-40C>T (n.785-40C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1787477G= | CA1149300130 | GNB1 | c.878-40C= (n.878-40C=) c.617-40C= (n.617-40C=) c.917-40C= (n.917-40C=) c.*130-40C= (n.*130-40C=) n.206-40C= c.785-40C= (n.785-40C=) | |
| 1 | g.1787477G>T | CA2642665406 | GNB1 | c.878-40C>A (n.878-40C>A) c.617-40C>A (n.617-40C>A) c.917-40C>A (n.917-40C>A) c.*130-40C>A (n.*130-40C>A) n.206-40C>A c.785-40C>A (n.785-40C>A) | gnomAD v4 |
| 1 | g.1787478G>A | CA415402722 | GNB1 | c.878-41C>T (n.878-41C>T) c.617-41C>T (n.617-41C>T) c.917-41C>T (n.917-41C>T) c.*130-41C>T (n.*130-41C>T) n.206-41C>T c.785-41C>T (n.785-41C>T) | dbSNP gnomAD v4 |
| 1 | g.1787478G= | CA1149300133 | GNB1 | c.878-41C= (n.878-41C=) c.617-41C= (n.617-41C=) c.917-41C= (n.917-41C=) c.*130-41C= (n.*130-41C=) n.206-41C= c.785-41C= (n.785-41C=) | |
| 1 | g.1787478G>T | CA2642665407 | GNB1 | c.878-41C>A (n.878-41C>A) c.617-41C>A (n.617-41C>A) c.917-41C>A (n.917-41C>A) c.*130-41C>A (n.*130-41C>A) n.206-41C>A c.785-41C>A (n.785-41C>A) | gnomAD v4 |