| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.37965670_37965735del | CA2968109739 | ADRB3 | c.744_809del (p.Glu249_Glu270del) n.872_937del c.228_293del (p.Glu77_Glu98del) n.19_84del | |
| 8 | g.37965681del | CA2968109764 | ADRB3 | c.792del (p.Thr265ArgfsTer?) n.920del c.276del (p.Thr93ArgfsTer?) n.67del | |
| 8 | g.37965681C>A | CA460494435 | ADRB3 | c.789G>T (p.Val263=) n.917G>T c.273G>T (p.Val91=) n.64G>T | |
| 8 | g.37965681C>G | CA460494437 | ADRB3 | c.789G>C (p.Val263=) n.917G>C c.273G>C (p.Val91=) n.64G>C | |
| 8 | g.37965681C>T | CA460494438 | ADRB3 | c.789G>A (p.Val263=) n.917G>A c.273G>A (p.Val91=) n.64G>A | |
| 8 | g.37965682A= | CA1777328919 | ADRB3 | c.788T= (p.Val263=) n.916T= c.272T= (p.Val91=) n.63T= | |
| 8 | g.37965682A>C | CA370693455 | ADRB3 | c.788T>G (p.Val263Gly) n.916T>G c.272T>G (p.Val91Gly) n.63T>G | gnomAD v4 |
| 8 | g.37965682A>G | CA370693456 | ADRB3 | c.788T>C (p.Val263Ala) n.916T>C c.272T>C (p.Val91Ala) n.63T>C | |
| 8 | g.37965682A>T | CA370693457 | ADRB3 | c.788T>A (p.Val263Glu) n.916T>A c.272T>A (p.Val91Glu) n.63T>A | |
| 8 | g.37965683C>A | CA370693458 | ADRB3 | c.787G>T (p.Val263Leu) n.915G>T c.271G>T (p.Val91Leu) n.62G>T | |
| 8 | g.37965683C= | CA1777328920 | ADRB3 | c.787G= (p.Val263=) n.915G= c.271G= (p.Val91=) n.62G= | |
| 8 | g.37965683C>G | CA370693459 | ADRB3 | c.787G>C (p.Val263Leu) n.915G>C c.271G>C (p.Val91Leu) n.62G>C | |
| 8 | g.37965683C>T | CA370693461 | ADRB3 | c.787G>A (p.Val263Met) n.915G>A c.271G>A (p.Val91Met) n.62G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37965684del | CA2968109773 | ADRB3 | c.787del (p.Val263TrpfsTer?) n.915del c.271del (p.Val91TrpfsTer?) n.62del | |
| 8 | g.37965691_37965696dup | CA581430196 | ADRB3 | c.782_787dup (p.Pro262_Val263insAlaPro) n.910_915dup c.266_271dup (p.Pro90_Val91insAlaPro) n.57_62dup | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37965684C>A | CA460494444 | ADRB3 | c.786G>T (p.Pro262=) n.914G>T c.270G>T (p.Pro90=) n.61G>T | gnomAD v4 COSMIC |
| 8 | g.37965684C= | CA1777328921 | ADRB3 | c.786G= (p.Pro262=) n.914G= c.270G= (p.Pro90=) n.61G= | |
| 8 | g.37965684C>G | CA460494446 | ADRB3 | c.786G>C (p.Pro262=) n.914G>C c.270G>C (p.Pro90=) n.61G>C | |
| 8 | g.37965684C>T | CA460494447 | ADRB3 | c.786G>A (p.Pro262=) n.914G>A c.270G>A (p.Pro90=) n.61G>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37965685G>A | CA370693463 | ADRB3 | c.785C>T (p.Pro262Leu) n.913C>T c.269C>T (p.Pro90Leu) n.60C>T | gnomAD v4 |
| 8 | g.37965685G>C | CA4714353 | ADRB3 | c.785C>G (p.Pro262Arg) n.913C>G c.269C>G (p.Pro90Arg) n.60C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37965685G= | CA1777328922 | ADRB3 | c.785C= (p.Pro262=) n.913C= c.269C= (p.Pro90=) n.60C= | |
| 8 | g.37965685G>T | CA370693465 | ADRB3 | c.785C>A (p.Pro262Gln) n.913C>A c.269C>A (p.Pro90Gln) n.60C>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37965688del | CA2968109783 | ADRB3 | c.785del (p.Pro262ArgfsTer?) n.913del c.269del (p.Pro90ArgfsTer?) n.60del | |
| 8 | g.37965686G>A | CA370693473 | ADRB3 | c.784C>T (p.Pro262Ser) n.912C>T c.268C>T (p.Pro90Ser) n.59C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37965686G>C | CA370693475 | ADRB3 | c.784C>G (p.Pro262Ala) n.912C>G c.268C>G (p.Pro90Ala) n.59C>G | |
| 8 | g.37965686G= | CA1777328923 | ADRB3 | c.784C= (p.Pro262=) n.912C= c.268C= (p.Pro90=) n.59C= | |
| 8 | g.37965686G>T | CA370693477 | ADRB3 | c.784C>A (p.Pro262Thr) n.912C>A c.268C>A (p.Pro90Thr) n.59C>A | |
| 8 | g.37965687G>A | CA4714354 | ADRB3 | c.783C>T (p.Ala261=) n.911C>T c.267C>T (p.Ala89=) n.58C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37965687G>C | CA460494453 | ADRB3 | c.783C>G (p.Ala261=) n.911C>G c.267C>G (p.Ala89=) n.58C>G | |
| 8 | g.37965687G= | CA1777328924 | ADRB3 | c.783C= (p.Ala261=) n.911C= c.267C= (p.Ala89=) n.58C= | |
| 8 | g.37965687G>T | CA460494451 | ADRB3 | c.783C>A (p.Ala261=) n.911C>A c.267C>A (p.Ala89=) n.58C>A | |
| 8 | g.37965688G>A | CA175071221 | ADRB3 | c.782C>T (p.Ala261Val) n.910C>T c.266C>T (p.Ala89Val) n.57C>T | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37965688G>C | CA370693483 | ADRB3 | c.782C>G (p.Ala261Gly) n.910C>G c.266C>G (p.Ala89Gly) n.57C>G | dbSNP gnomAD v3 |
| 8 | g.37965688G= | CA1777328925 | ADRB3 | c.782C= (p.Ala261=) n.910C= c.266C= (p.Ala89=) n.57C= | |
| 8 | g.37965688G>T | CA370693479 | ADRB3 | c.782C>A (p.Ala261Asp) n.910C>A c.266C>A (p.Ala89Asp) n.57C>A | |
| 8 | g.37965689C>A | CA370693488 | ADRB3 | c.781G>T (p.Ala261Ser) n.909G>T c.265G>T (p.Ala89Ser) n.56G>T | |
| 8 | g.37965689C>G | CA370693491 | ADRB3 | c.781G>C (p.Ala261Pro) n.909G>C c.265G>C (p.Ala89Pro) n.56G>C | |
| 8 | g.37965689C>T | CA370693492 | ADRB3 | c.781G>A (p.Ala261Thr) n.909G>A c.265G>A (p.Ala89Thr) n.56G>A | gnomAD v4 |
| 8 | g.37965690C>A | CA460494458 | ADRB3 | c.780G>T (p.Pro260=) n.908G>T c.264G>T (p.Pro88=) n.55G>T | gnomAD v4 |
| 8 | g.37965690C= | CA1777328927 | ADRB3 | c.780G= (p.Pro260=) n.908G= c.264G= (p.Pro88=) n.55G= | |
| 8 | g.37965690C>G | CA460494457 | ADRB3 | c.780G>C (p.Pro260=) n.908G>C c.264G>C (p.Pro88=) n.55G>C | dbSNP gnomAD v4 |
| 8 | g.37965690C>T | CA460494456 | ADRB3 | c.780G>A (p.Pro260=) n.908G>A c.264G>A (p.Pro88=) n.55G>A | |
| 8 | g.37965690_37965691delinsCG | CA1777328926 | ADRB3 | c.779_780delinsCG (p.Pro260=) n.907_908delinsCG c.263_264delinsCG (p.Pro88=) n.54_55delinsCG | |
| 8 | g.37965691G>A | CA370693495 | ADRB3 | c.779C>T (p.Pro260Leu) n.907C>T c.263C>T (p.Pro88Leu) n.54C>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37965691G>C | CA370693496 | ADRB3 | c.779C>G (p.Pro260Arg) n.907C>G c.263C>G (p.Pro88Arg) n.54C>G | dbSNP |
| 8 | g.37965691G= | CA1777328928 | ADRB3 | c.779C= (p.Pro260=) n.907C= c.263C= (p.Pro88=) n.54C= | |
| 8 | g.37965691G>T | CA370693502 | ADRB3 | c.779C>A (p.Pro260Gln) n.907C>A c.263C>A (p.Pro88Gln) n.54C>A | |
| 8 | g.37965694del | CA581430197 | ADRB3 | c.779del (p.Pro260ArgfsTer?) n.907del c.263del (p.Pro88ArgfsTer?) n.54del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37965691_37965692insTGC | CA2842327659 | ADRB3 | c.778_779insGCA (p.Pro260delinsArgThr) n.906_907insGCA c.262_263insGCA (p.Pro88delinsArgThr) n.53_54insGCA |