Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.50625097A>GCA2657590514ARSAc.*48T>C (n.*48T>C)
c.180+266T>C
c.*311T>C (n.*311T>C)
 gnomAD v4
22g.50625097A>TCA2819316015ARSAc.*48T>A (n.*48T>A)
c.180+266T>A
c.*311T>A (n.*311T>A)
22g.50625098G>CCA2410958313ARSAc.*47C>G (n.*47C>G)
c.180+265C>G
c.*310C>G (n.*310C>G)
 dbSNP
22g.50625098G=CA2410958312ARSAc.*47C= (n.*47C=)
c.180+265C=
c.*310C= (n.*310C=)
22g.50625098G>TCA2657590516ARSAc.*47C>A (n.*47C>A)
c.180+265C>A
c.*310C>A (n.*310C>A)
 gnomAD v4
22g.50625099G>ACA2657590519ARSAc.*46C>T (n.*46C>T)
c.180+264C>T
c.*309C>T (n.*309C>T)
 gnomAD v4
22g.50625099G>CCA2657590517ARSAc.*46C>G (n.*46C>G)
c.180+264C>G
c.*309C>G (n.*309C>G)
 gnomAD v4
22g.50625099G>TCA2657590518ARSAc.*46C>A (n.*46C>A)
c.180+264C>A
c.*309C>A (n.*309C>A)
 gnomAD v4
22g.50625100C>ACA2657590522ARSAc.*45G>T (n.*45G>T)
c.180+263G>T
c.*308G>T (n.*308G>T)
 gnomAD v4
22g.50625101T>CCA325531128ARSAc.*44A>G (n.*44A>G)
c.180+262A>G
c.*307A>G (n.*307A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50625101T>GCA1026680067ARSAc.*44A>C (n.*44A>C)
c.180+262A>C
c.*307A>C (n.*307A>C)
 dbSNP gnomAD v3 gnomAD v4
22g.50625101T=CA2410958314ARSAc.*44A= (n.*44A=)
c.180+262A=
c.*307A= (n.*307A=)
22g.50625102C>GCA2657590528ARSAc.*43G>C (n.*43G>C)
c.180+261G>C
c.*306G>C (n.*306G>C)
 gnomAD v4
22g.50625102C>TCA2657590529ARSAc.*43G>A (n.*43G>A)
c.180+261G>A
c.*306G>A (n.*306G>A)
 gnomAD v4
22g.50625103C>ACA2657590532ARSAc.*42G>T (n.*42G>T)
c.180+260G>T
c.*305G>T (n.*305G>T)
 gnomAD v4
22g.50625103C>TCA2657590533ARSAc.*42G>A (n.*42G>A)
c.180+260G>A
c.*305G>A (n.*305G>A)
 gnomAD v4
22g.50625104C>ACA2577767849ARSAc.*41G>T (n.*41G>T)
c.180+259G>T
c.*304G>T (n.*304G>T)
 gnomAD v4
22g.50625104C=CA2410958315ARSAc.*41G= (n.*41G=)
c.180+259G=
c.*304G= (n.*304G=)
22g.50625104C>TCA1026680073ARSAc.*41G>A (n.*41G>A)
c.180+259G>A
c.*304G>A (n.*304G>A)
 dbSNP gnomAD v3 gnomAD v4
22g.50625105A>GCA2657590537ARSAc.*40T>C (n.*40T>C)
c.180+258T>C
c.*303T>C (n.*303T>C)
 gnomAD v4
22g.50625106G>ACA1026680077ARSAc.*39C>T (n.*39C>T)
c.180+257C>T
c.*302C>T (n.*302C>T)
 dbSNP gnomAD v3 gnomAD v4
22g.50625106G>CCA2657590539ARSAc.*39C>G (n.*39C>G)
c.180+257C>G
c.*302C>G (n.*302C>G)
 gnomAD v4
22g.50625106G=CA2410958316ARSAc.*39C= (n.*39C=)
c.180+257C=
c.*302C= (n.*302C=)
22g.50625106G>TCA2657590541ARSAc.*39C>A (n.*39C>A)
c.180+257C>A
c.*302C>A (n.*302C>A)
 gnomAD v4
22g.50625107T>ACA2657590546ARSAc.*38A>T (n.*38A>T)
c.180+256A>T
c.*301A>T (n.*301A>T)
 gnomAD v4
22g.50625107T>CCA640358544ARSAc.*38A>G (n.*38A>G)
c.180+256A>G
c.*301A>G (n.*301A>G)
 dbSNP gnomAD v2 gnomAD v4
22g.50625107T=CA2410958317ARSAc.*38A= (n.*38A=)
c.180+256A=
c.*301A= (n.*301A=)
22g.50625108G>ACA10324708ARSAc.*37C>T (n.*37C>T)
c.180+255C>T
c.*300C>T (n.*300C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50625108G>CCA2657590552ARSAc.*37C>G (n.*37C>G)
c.180+255C>G
c.*300C>G (n.*300C>G)
 gnomAD v4
22g.50625108G=CA2410958318ARSAc.*37C= (n.*37C=)
c.180+255C=
c.*300C= (n.*300C=)
22g.50625108G>TCA325531131ARSAc.*37C>A (n.*37C>A)
c.180+255C>A
c.*300C>A (n.*300C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50625109A>GCA2657590558ARSAc.*36T>C (n.*36T>C)
c.180+254T>C
c.*299T>C (n.*299T>C)
 gnomAD v4
22g.50625110G>ACA2657590560ARSAc.*35C>T (n.*35C>T)
c.180+253C>T
c.*298C>T (n.*298C>T)
 gnomAD v4
22g.50625110G>TCA2657590561ARSAc.*35C>A (n.*35C>A)
c.180+253C>A
c.*298C>A (n.*298C>A)
 gnomAD v4
22g.50625111G>ACA640358545ARSAc.*34C>T (n.*34C>T)
c.180+252C>T
c.*297C>T (n.*297C>T)
 dbSNP gnomAD v2 gnomAD v4
22g.50625111G=CA2410958319ARSAc.*34C= (n.*34C=)
c.180+252C=
c.*297C= (n.*297C=)
22g.50625111G>TCA2657590563ARSAc.*34C>A (n.*34C>A)
c.180+252C>A
c.*297C>A (n.*297C>A)
 gnomAD v4
22g.50625112A>GCA2657590564ARSAc.*33T>C (n.*33T>C)
c.180+251T>C
c.*296T>C (n.*296T>C)
 gnomAD v4
22g.50625113G>ACA2410958321ARSAc.*32C>T (n.*32C>T)
c.180+250C>T
c.*295C>T (n.*295C>T)
 dbSNP gnomAD v4
22g.50625113G=CA2410958320ARSAc.*32C= (n.*32C=)
c.180+250C=
c.*295C= (n.*295C=)
22g.50625113G>TCA2657590567ARSAc.*32C>A (n.*32C>A)
c.180+250C>A
c.*295C>A (n.*295C>A)
 gnomAD v4
22g.50625114C>ACA2657590573ARSAc.*31G>T (n.*31G>T)
c.180+249G>T
c.*294G>T (n.*294G>T)
 gnomAD v4
22g.50625114C=CA2410958322ARSAc.*31G= (n.*31G=)
c.180+249G=
c.*294G= (n.*294G=)
22g.50625114C>GCA640358546ARSAc.*31G>C (n.*31G>C)
c.180+249G>C
c.*294G>C (n.*294G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50625114C>TCA640358547ARSAc.*31G>A (n.*31G>A)
c.180+249G>A
c.*294G>A (n.*294G>A)
 dbSNP gnomAD v2 gnomAD v4
22g.50625115C>ACA2657590575ARSAc.*30G>T (n.*30G>T)
c.180+248G>T
c.*293G>T (n.*293G>T)
 gnomAD v4
22g.50625115C>TCA2657590574ARSAc.*30G>A (n.*30G>A)
c.180+248G>A
c.*293G>A (n.*293G>A)
 gnomAD v4
22g.50625116A>GCA2657590576ARSAc.*29T>C (n.*29T>C)
c.180+247T>C
c.*292T>C (n.*292T>C)
 gnomAD v4
22g.50625117T>CCA640358548ARSAc.*28A>G (n.*28A>G)
c.180+246A>G
c.*291A>G (n.*291A>G)
 dbSNP gnomAD v2 gnomAD v4
22g.50625117T=CA2410958323ARSAc.*28A= (n.*28A=)
c.180+246A=
c.*291A= (n.*291A=)
22g.50625118C>ACA2657590577ARSAc.*27G>T (n.*27G>T)
c.180+245G>T
c.*290G>T (n.*290G>T)
 gnomAD v4
22g.50625119A>CCA2819316017ARSAc.*26T>G (n.*26T>G)
c.180+244T>G
c.*289T>G (n.*289T>G)
22g.50625119A>GCA2657590580ARSAc.*26T>C (n.*26T>C)
c.180+244T>C
c.*289T>C (n.*289T>C)
 gnomAD v4
22g.50625120C>ACA2657590581ARSAc.*25G>T (n.*25G>T)
c.180+243G>T
c.*288G>T (n.*288G>T)
 gnomAD v4
22g.50625120C>TCA2657590582ARSAc.*25G>A (n.*25G>A)
c.180+243G>A
c.*288G>A (n.*288G>A)
 gnomAD v4
22g.50625121A>GCA2657590583ARSAc.*24T>C (n.*24T>C)
c.180+242T>C
c.*287T>C (n.*287T>C)
 gnomAD v4
22g.50625121A>TCA2657590584ARSAc.*24T>A (n.*24T>A)
c.180+242T>A
c.*287T>A (n.*287T>A)
 gnomAD v4
22g.50625122T>CCA10324709ARSAc.*23A>G (n.*23A>G)
c.180+241A>G
c.*286A>G (n.*286A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50625122T=CA2410958324ARSAc.*23A= (n.*23A=)
c.180+241A=
c.*286A= (n.*286A=)
22g.50625123G>ACA2657590587ARSAc.*22C>T (n.*22C>T)
c.180+240C>T
c.*285C>T (n.*285C>T)
 gnomAD v4
22g.50625123G>CCA754067198ARSAc.*22C>G (n.*22C>G)
c.180+240C>G
c.*285C>G (n.*285C>G)
 dbSNP
22g.50625123G=CA2410958325ARSAc.*22C= (n.*22C=)
c.180+240C=
c.*285C= (n.*285C=)
22g.50625123G>TCA325531136ARSAc.*22C>A (n.*22C>A)
c.180+240C>A
c.*285C>A (n.*285C>A)
 dbSNP gnomAD v4
22g.50625124C>ACA2657590588ARSAc.*21G>T (n.*21G>T)
c.180+239G>T
c.*284G>T (n.*284G>T)
 gnomAD v4
22g.50625124C>TCA2657590590ARSAc.*21G>A (n.*21G>A)
c.180+239G>A
c.*284G>A (n.*284G>A)
 gnomAD v4
22g.50625126delCA2819316020ARSAc.*21del (n.*21del)
c.180+239del
c.*284del (n.*284del)
22g.50625125C>ACA2657590593ARSAc.*20G>T (n.*20G>T)
c.180+238G>T
c.*283G>T (n.*283G>T)
 gnomAD v4
22g.50625125C=CA2410958326ARSAc.*20G= (n.*20G=)
c.180+238G=
c.*283G= (n.*283G=)
22g.50625125C>TCA2410958327ARSAc.*20G>A (n.*20G>A)
c.180+238G>A
c.*283G>A (n.*283G>A)
 dbSNP gnomAD v4
22g.50625126C>ACA2657590594ARSAc.*19G>T (n.*19G>T)
c.180+237G>T
c.*282G>T (n.*282G>T)
 gnomAD v4
22g.50625126C=CA2410958328ARSAc.*19G= (n.*19G=)
c.180+237G=
c.*282G= (n.*282G=)
22g.50625126C>TCA1026680088ARSAc.*19G>A (n.*19G>A)
c.180+237G>A
c.*282G>A (n.*282G>A)
 dbSNP gnomAD v3 gnomAD v4
22g.50625127A>GCA2657590596ARSAc.*18T>C (n.*18T>C)
c.180+236T>C
c.*281T>C (n.*281T>C)
 gnomAD v4
22g.50625127A>TCA2657590597ARSAc.*18T>A (n.*18T>A)
c.180+236T>A
c.*281T>A (n.*281T>A)
 gnomAD v4
22g.50625128G>ACA325531138ARSAc.*17C>T (n.*17C>T)
c.180+235C>T
c.*280C>T (n.*280C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50625128G>CCA2657590601ARSAc.*17C>G (n.*17C>G)
c.180+235C>G
c.*280C>G (n.*280C>G)
 gnomAD v4
22g.50625128G=CA2410958329ARSAc.*17C= (n.*17C=)
c.180+235C=
c.*280C= (n.*280C=)
22g.50625129G>ACA2657590604ARSAc.*16C>T (n.*16C>T)
c.180+234C>T
c.*279C>T (n.*279C>T)
 gnomAD v4
22g.50625129G>TCA2657590605ARSAc.*16C>A (n.*16C>A)
c.180+234C>A
c.*279C>A (n.*279C>A)
 gnomAD v4
22g.50625130C>ACA2657590610ARSAc.*15G>T (n.*15G>T)
c.180+233G>T
c.*278G>T (n.*278G>T)
 gnomAD v4
22g.50625130C=CA2410958330ARSAc.*15G= (n.*15G=)
c.180+233G=
c.*278G= (n.*278G=)
22g.50625130C>TCA10324710ARSAc.*15G>A (n.*15G>A)
c.180+233G>A
c.*278G>A (n.*278G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50625131C>ACA2657590613ARSAc.*14G>T (n.*14G>T)
c.180+232G>T
c.*277G>T (n.*277G>T)
 gnomAD v4
22g.50625131C=CA2410958331ARSAc.*14G= (n.*14G=)
c.180+232G=
c.*277G= (n.*277G=)
22g.50625131C>TCA10324711ARSAc.*14G>A (n.*14G>A)
c.180+232G>A
c.*277G>A (n.*277G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50625132A>CCA2657590614ARSAc.*13T>G (n.*13T>G)
c.180+231T>G
c.*276T>G (n.*276T>G)
 gnomAD v4
22g.50625133G>ACA2657590617ARSAc.*12C>T (n.*12C>T)
c.180+230C>T
c.*275C>T (n.*275C>T)
 gnomAD v4
22g.50625133G>CCA2657590615ARSAc.*12C>G (n.*12C>G)
c.180+230C>G
c.*275C>G (n.*275C>G)
 gnomAD v4
22g.50625133G>TCA2657590616ARSAc.*12C>A (n.*12C>A)
c.180+230C>A
c.*275C>A (n.*275C>A)
 gnomAD v4
22g.50625134C>ACA2657590618ARSAc.*11G>T (n.*11G>T)
c.180+229G>T
c.*274G>T (n.*274G>T)
 gnomAD v4
22g.50625134C>TCA2657590619ARSAc.*11G>A (n.*11G>A)
c.180+229G>A
c.*274G>A (n.*274G>A)
 gnomAD v4
22g.50625135C>ACA2577767850ARSAc.*10G>T (n.*10G>T)
c.180+228G>T
c.*273G>T (n.*273G>T)
 gnomAD v4
22g.50625135C=CA2410958332ARSAc.*10G= (n.*10G=)
c.180+228G=
c.*273G= (n.*273G=)
22g.50625135C>GCA10324712ARSAc.*10G>C (n.*10G>C)
c.180+228G>C
c.*273G>C (n.*273G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50625135C>TCA640358549ARSAc.*10G>A (n.*10G>A)
c.180+228G>A
c.*273G>A (n.*273G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.50625136G>ACA10324713ARSAc.*9C>T (n.*9C>T)
c.180+227C>T
c.*272C>T (n.*272C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50625136G=CA2410958333ARSAc.*9C= (n.*9C=)
c.180+227C=
c.*272C= (n.*272C=)
22g.50625136G>TCA2657590621ARSAc.*9C>A (n.*9C>A)
c.180+227C>A
c.*272C>A (n.*272C>A)
 gnomAD v4
22g.50625137A>GCA2657590622ARSAc.*8T>C (n.*8T>C)
c.180+226T>C
c.*271T>C (n.*271T>C)
 gnomAD v4
22g.50625138G>ACA640358550ARSAc.*7C>T (n.*7C>T)
c.180+225C>T
c.*270C>T (n.*270C>T)
 dbSNP gnomAD v2 gnomAD v4
22g.50625138G=CA2410958334ARSAc.*7C= (n.*7C=)
c.180+225C=
c.*270C= (n.*270C=)
22g.50625138G>TCA2657590623ARSAc.*7C>A (n.*7C>A)
c.180+225C>A
c.*270C>A (n.*270C>A)
 gnomAD v4
22g.50625141delCA2819316022ARSAc.*7del (n.*7del)
c.180+225del
c.*270del (n.*270del)
22g.50625139G>ACA2657590625ARSAc.*6C>T (n.*6C>T)
c.180+224C>T
c.*269C>T (n.*269C>T)
 gnomAD v4
22g.50625139G>TCA2657590624ARSAc.*6C>A (n.*6C>A)
c.180+224C>A
c.*269C>A (n.*269C>A)
 gnomAD v4
22g.50625140G>ACA2657590626ARSAc.*5C>T (n.*5C>T)
c.180+223C>T
c.*268C>T (n.*268C>T)
 gnomAD v4
22g.50625140G>CCA2819316024ARSAc.*5C>G (n.*5C>G)
c.180+223C>G
c.*268C>G (n.*268C>G)
22g.50625140G>TCA2657590627ARSAc.*5C>A (n.*5C>A)
c.180+223C>A
c.*268C>A (n.*268C>A)
 gnomAD v4
22g.50625141G>ACA2657590628ARSAc.*4C>T (n.*4C>T)
c.180+222C>T
c.*267C>T (n.*267C>T)
 gnomAD v4
22g.50625141G>TCA2657590629ARSAc.*4C>A (n.*4C>A)
c.180+222C>A
c.*267C>A (n.*267C>A)
 gnomAD v4
22g.50625142C>ACA2657590631ARSAc.*3G>T (n.*3G>T)
c.180+221G>T
c.*266G>T (n.*266G>T)
 gnomAD v4
22g.50625142C=CA2410958335ARSAc.*3G= (n.*3G=)
c.180+221G=
c.*266G= (n.*266G=)
22g.50625142C>GCA2657590632ARSAc.*3G>C (n.*3G>C)
c.180+221G>C
c.*266G>C (n.*266G>C)
 gnomAD v4
22g.50625142C>TCA640358551ARSAc.*3G>A (n.*3G>A)
c.180+221G>A
c.*266G>A (n.*266G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50625144delCA2657590630ARSAc.*3del (n.*3del)
c.180+221del
c.*266del (n.*266del)
 gnomAD v4
22g.50625143C=CA2410958336ARSAc.*2G= (n.*2G=)
c.180+220G=
c.*265G= (n.*265G=)
22g.50625143C>TCA325531145ARSAc.*2G>A (n.*2G>A)
c.180+220G>A
c.*265G>A (n.*265G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50625144C>ACA2657590633ARSAc.*1G>T (n.*1G>T)
c.180+219G>T
c.*264G>T (n.*264G>T)
 gnomAD v4
22g.50625144C>TCA2657590634ARSAc.*1G>A (n.*1G>A)
c.180+219G>A
c.*264G>A (n.*264G>A)
 gnomAD v4
22g.50625145T>ACA412166545ARSAc.1530A>T (p.Ter510Cys)
c.1272A>T (p.Ter424Cys)
c.180+218A>T
c.*263A>T (n.*263A>T)
c.1644A>T (p.Ter548Cys)
 gnomAD v4
22g.50625145T>CCA412166546ARSAc.1530A>G (p.Ter510Trp)
c.1272A>G (p.Ter424Trp)
c.180+218A>G
c.*263A>G (n.*263A>G)
c.1644A>G (p.Ter548Trp)
 gnomAD v4
22g.50625145T>GCA412166547ARSAc.1530A>C (p.Ter510Cys)
c.1272A>C (p.Ter424Cys)
c.180+218A>C
c.*263A>C (n.*263A>C)
c.1644A>C (p.Ter548Cys)
22g.50625146C>ACA412166551ARSAc.1529G>T (p.Ter510Leu)
c.1271G>T (p.Ter424Leu)
c.180+217G>T
c.*262G>T (n.*262G>T)
c.1643G>T (p.Ter548Leu)
 gnomAD v4
22g.50625146C>GCA412166549ARSAc.1529G>C (p.Ter510Ser)
c.1271G>C (p.Ter424Ser)
c.180+217G>C
c.*262G>C (n.*262G>C)
c.1643G>C (p.Ter548Ser)
22g.50625146C>TCA515390741ARSAc.1529G>A (p.Ter510=)
c.1271G>A (p.Ter424=)
c.180+217G>A
c.*262G>A (n.*262G>A)
c.1643G>A (p.Ter548=)
 gnomAD v4
22g.50625147A>CCA412166558ARSAc.1528T>G (p.Ter510Gly)
c.1270T>G (p.Ter424Gly)
c.180+216T>G
c.*261T>G (n.*261T>G)
c.1642T>G (p.Ter548Gly)
22g.50625147A>GCA412166561ARSAc.1528T>C (p.Ter510Arg)
c.1270T>C (p.Ter424Arg)
c.180+216T>C
c.*261T>C (n.*261T>C)
c.1642T>C (p.Ter548Arg)
 ClinVar gnomAD v4
22g.50625147A>TCA412166563ARSAc.1528T>A (p.Ter510Arg)
c.1270T>A (p.Ter424Arg)
c.180+216T>A
c.*261T>A (n.*261T>A)
c.1642T>A (p.Ter548Arg)
22g.50625148G>ACA515390746ARSAc.1527C>T (p.Ala509=)
c.1269C>T (p.Ala423=)
c.180+215C>T
c.*260C>T (n.*260C>T)
c.1641C>T (p.Ala547=)
 gnomAD v4
22g.50625148G>CCA515390743ARSAc.1527C>G (p.Ala509=)
c.1269C>G (p.Ala423=)
c.180+215C>G
c.*260C>G (n.*260C>G)
c.1641C>G (p.Ala547=)
 gnomAD v4
22g.50625148G=CA2410958337ARSAc.1527C= (p.Ala509=)
c.1269C= (p.Ala423=)
c.180+215C=
c.*260C= (n.*260C=)
c.1641C= (p.Ala547=)
22g.50625148G>TCA515390745ARSAc.1527C>A (p.Ala509=)
c.1269C>A (p.Ala423=)
c.180+215C>A
c.*260C>A (n.*260C>A)
c.1641C>A (p.Ala547=)
 ClinVar dbSNP gnomAD v4
22g.50625149G>ACA412166564ARSAc.1526C>T (p.Ala509Val)
c.1268C>T (p.Ala423Val)
c.180+214C>T
c.*259C>T (n.*259C>T)
c.1640C>T (p.Ala547Val)
 gnomAD v4
22g.50625149G>CCA412166566ARSAc.1526C>G (p.Ala509Gly)
c.1268C>G (p.Ala423Gly)
c.180+214C>G
c.*259C>G (n.*259C>G)
c.1640C>G (p.Ala547Gly)
 gnomAD v4
22g.50625149G>TCA412166568ARSAc.1526C>A (p.Ala509Asp)
c.1268C>A (p.Ala423Asp)
c.180+214C>A
c.*259C>A (n.*259C>A)
c.1640C>A (p.Ala547Asp)
 gnomAD v4
22g.50625150C>ACA412166573ARSAc.1525G>T (p.Ala509Ser)
c.1267G>T (p.Ala423Ser)
c.180+213G>T
c.*258G>T (n.*258G>T)
c.1639G>T (p.Ala547Ser)
 gnomAD v4
22g.50625150C>GCA412166570ARSAc.1525G>C (p.Ala509Pro)
c.1267G>C (p.Ala423Pro)
c.180+213G>C
c.*258G>C (n.*258G>C)
c.1639G>C (p.Ala547Pro)
 gnomAD v4
22g.50625150C>TCA412166571ARSAc.1525G>A (p.Ala509Thr)
c.1267G>A (p.Ala423Thr)
c.180+213G>A
c.*258G>A (n.*258G>A)
c.1639G>A (p.Ala547Thr)
 gnomAD v4
22g.50625151A=CA2410958338ARSAc.1524T= (p.His508=)
c.1266T= (p.His422=)
c.180+212T=
c.*257T= (n.*257T=)
c.1638T= (p.His546=)
22g.50625151A>CCA10324714ARSAc.1524T>G (p.His508Gln)
c.1266T>G (p.His422Gln)
c.180+212T>G
c.*257T>G (n.*257T>G)
c.1638T>G (p.His546Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50625151A>GCA515390754ARSAc.1524T>C (p.His508=)
c.1266T>C (p.His422=)
c.180+212T>C
c.*257T>C (n.*257T>C)
c.1638T>C (p.His546=)
22g.50625151A>TCA412166580ARSAc.1524T>A (p.His508Gln)
c.1266T>A (p.His422Gln)
c.180+212T>A
c.*257T>A (n.*257T>A)
c.1638T>A (p.His546Gln)
22g.50625152T>ACA412166584ARSAc.1523A>T (p.His508Leu)
c.1265A>T (p.His422Leu)
c.180+211A>T
c.*256A>T (n.*256A>T)
c.1637A>T (p.His546Leu)
22g.50625152T>CCA412166587ARSAc.1523A>G (p.His508Arg)
c.1265A>G (p.His422Arg)
c.180+211A>G
c.*256A>G (n.*256A>G)
c.1637A>G (p.His546Arg)
 ClinVar dbSNP gnomAD v4
22g.50625152T>GCA412166591ARSAc.1523A>C (p.His508Pro)
c.1265A>C (p.His422Pro)
c.180+211A>C
c.*256A>C (n.*256A>C)
c.1637A>C (p.His546Pro)
22g.50625152T=CA2410958339ARSAc.1523A= (p.His508=)
c.1265A= (p.His422=)
c.180+211A=
c.*256A= (n.*256A=)
c.1637A= (p.His546=)
22g.50625153G>ACA412166594ARSAc.1522C>T (p.His508Tyr)
c.1264C>T (p.His422Tyr)
c.180+210C>T
c.*255C>T (n.*255C>T)
c.1636C>T (p.His546Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.50625153G>CCA412166599ARSAc.1522C>G (p.His508Asp)
c.1264C>G (p.His422Asp)
c.180+210C>G
c.*255C>G (n.*255C>G)
c.1636C>G (p.His546Asp)
22g.50625153G=CA2410958340ARSAc.1522C= (p.His508=)
c.1264C= (p.His422=)
c.180+210C=
c.*255C= (n.*255C=)
c.1636C= (p.His546=)
22g.50625153G>TCA412166596ARSAc.1522C>A (p.His508Asn)
c.1264C>A (p.His422Asn)
c.180+210C>A
c.*255C>A (n.*255C>A)
c.1636C>A (p.His546Asn)
 gnomAD v4
22g.50625156delCA2657590635ARSAc.1522del (p.His508MetfsTer12)
c.1264del (p.His422MetfsTer12)
c.180+210del
c.*255del (n.*255del)
c.1636del (p.His546MetfsTer12)
 gnomAD v4
22g.50625154G>ACA515390763ARSAc.1521C>T (p.Pro507=)
c.1263C>T (p.Pro421=)
c.180+209C>T
c.*254C>T (n.*254C>T)
c.1635C>T (p.Pro545=)
 dbSNP gnomAD v4
22g.50625154G>CCA515390764ARSAc.1521C>G (p.Pro507=)
c.1263C>G (p.Pro421=)
c.180+209C>G
c.*254C>G (n.*254C>G)
c.1635C>G (p.Pro545=)
22g.50625154G=CA2410958341ARSAc.1521C= (p.Pro507=)
c.1263C= (p.Pro421=)
c.180+209C=
c.*254C= (n.*254C=)
c.1635C= (p.Pro545=)
22g.50625154G>TCA515390765ARSAc.1521C>A (p.Pro507=)
c.1263C>A (p.Pro421=)
c.180+209C>A
c.*254C>A (n.*254C>A)
c.1635C>A (p.Pro545=)
 gnomAD v4 COSMIC
22g.50625155G>ACA412166605ARSAc.1520C>T (p.Pro507Leu)
c.1262C>T (p.Pro421Leu)
c.180+208C>T
c.*253C>T (n.*253C>T)
c.1634C>T (p.Pro545Leu)
 gnomAD v4
22g.50625155G>CCA412166608ARSAc.1520C>G (p.Pro507Arg)
c.1262C>G (p.Pro421Arg)
c.180+208C>G
c.*253C>G (n.*253C>G)
c.1634C>G (p.Pro545Arg)
22g.50625155G>TCA412166613ARSAc.1520C>A (p.Pro507His)
c.1262C>A (p.Pro421His)
c.180+208C>A
c.*253C>A (n.*253C>A)
c.1634C>A (p.Pro545His)
 gnomAD v4
22g.50625156G>ACA412166617ARSAc.1519C>T (p.Pro507Ser)
c.1261C>T (p.Pro421Ser)
c.180+207C>T
c.*252C>T (n.*252C>T)
c.1633C>T (p.Pro545Ser)
22g.50625156G>CCA412166620ARSAc.1519C>G (p.Pro507Ala)
c.1261C>G (p.Pro421Ala)
c.180+207C>G
c.*252C>G (n.*252C>G)
c.1633C>G (p.Pro545Ala)
22g.50625156G>TCA412166623ARSAc.1519C>A (p.Pro507Thr)
c.1261C>A (p.Pro421Thr)
c.180+207C>A
c.*252C>A (n.*252C>A)
c.1633C>A (p.Pro545Thr)
 gnomAD v4
22g.50625157A>CCA412166640ARSAc.1518T>G (p.Asp506Glu)
c.1260T>G (p.Asp420Glu)
c.180+206T>G
c.*251T>G (n.*251T>G)
c.1632T>G (p.Asp544Glu)
22g.50625157A>GCA515390768ARSAc.1518T>C (p.Asp506=)
c.1260T>C (p.Asp420=)
c.180+206T>C
c.*251T>C (n.*251T>C)
c.1632T>C (p.Asp544=)
22g.50625157A>TCA412166642ARSAc.1518T>A (p.Asp506Glu)
c.1260T>A (p.Asp420Glu)
c.180+206T>A
c.*251T>A (n.*251T>A)
c.1632T>A (p.Asp544Glu)
22g.50625158T>ACA412166643ARSAc.1517A>T (p.Asp506Val)
c.1259A>T (p.Asp420Val)
c.180+205A>T
c.*250A>T (n.*250A>T)
c.1631A>T (p.Asp544Val)
 gnomAD v4
22g.50625158T>CCA412166644ARSAc.1517A>G (p.Asp506Gly)
c.1259A>G (p.Asp420Gly)
c.180+205A>G
c.*250A>G (n.*250A>G)
c.1631A>G (p.Asp544Gly)
22g.50625158T>GCA412166646ARSAc.1517A>C (p.Asp506Ala)
c.1259A>C (p.Asp420Ala)
c.180+205A>C
c.*250A>C (n.*250A>C)
c.1631A>C (p.Asp544Ala)
22g.50625159C>ACA10324715ARSAc.1516G>T (p.Asp506Tyr)
c.1258G>T (p.Asp420Tyr)
c.180+204G>T
c.*249G>T (n.*249G>T)
c.1630G>T (p.Asp544Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.50625159C=CA2410958342ARSAc.1516G= (p.Asp506=)
c.1258G= (p.Asp420=)
c.180+204G=
c.*249G= (n.*249G=)
c.1630G= (p.Asp544=)
22g.50625159C>GCA412166649ARSAc.1516G>C (p.Asp506His)
c.1258G>C (p.Asp420His)
c.180+204G>C
c.*249G>C (n.*249G>C)
c.1630G>C (p.Asp544His)
 gnomAD v4
22g.50625159C>TCA412166648ARSAc.1516G>A (p.Asp506Asn)
c.1258G>A (p.Asp420Asn)
c.180+204G>A
c.*249G>A (n.*249G>A)
c.1630G>A (p.Asp544Asn)
 dbSNP gnomAD v3 gnomAD v4
22g.50625160T>ACA515390773ARSAc.1515A>T (p.Pro505=)
c.1257A>T (p.Pro419=)
c.180+203A>T
c.*248A>T (n.*248A>T)
c.1629A>T (p.Pro543=)
22g.50625160T>CCA515390774ARSAc.1515A>G (p.Pro505=)
c.1257A>G (p.Pro419=)
c.180+203A>G
c.*248A>G (n.*248A>G)
c.1629A>G (p.Pro543=)
 gnomAD v4
22g.50625160T>GCA515390775ARSAc.1515A>C (p.Pro505=)
c.1257A>C (p.Pro419=)
c.180+203A>C
c.*248A>C (n.*248A>C)
c.1629A>C (p.Pro543=)
22g.50625161G>ACA412166653ARSAc.1514C>T (p.Pro505Leu)
c.1256C>T (p.Pro419Leu)
c.180+202C>T
c.*247C>T (n.*247C>T)
c.1628C>T (p.Pro543Leu)
 gnomAD v4
22g.50625161G>CCA412166659ARSAc.1514C>G (p.Pro505Arg)
c.1256C>G (p.Pro419Arg)
c.180+202C>G
c.*247C>G (n.*247C>G)
c.1628C>G (p.Pro543Arg)
22g.50625161G>TCA412166656ARSAc.1514C>A (p.Pro505Gln)
c.1256C>A (p.Pro419Gln)
c.180+202C>A
c.*247C>A (n.*247C>A)
c.1628C>A (p.Pro543Gln)
 gnomAD v4
22g.50625162G>ACA412166664ARSAc.1513C>T (p.Pro505Ser)
c.1255C>T (p.Pro419Ser)
c.180+201C>T
c.*246C>T (n.*246C>T)
c.1627C>T (p.Pro543Ser)
 gnomAD v4
22g.50625162G>CCA412166667ARSAc.1513C>G (p.Pro505Ala)
c.1255C>G (p.Pro419Ala)
c.180+201C>G
c.*246C>G (n.*246C>G)
c.1627C>G (p.Pro543Ala)
22g.50625162G>TCA412166669ARSAc.1513C>A (p.Pro505Thr)
c.1255C>A (p.Pro419Thr)
c.180+201C>A
c.*246C>A (n.*246C>A)
c.1627C>A (p.Pro543Thr)
 gnomAD v4
22g.50625163G>ACA515390781ARSAc.1512C>T (p.Cys504=)
c.1254C>T (p.Cys418=)
c.180+200C>T
c.*245C>T (n.*245C>T)
c.1626C>T (p.Cys542=)
 ClinVar dbSNP gnomAD v4 COSMIC
22g.50625163G>CCA412166674ARSAc.1512C>G (p.Cys504Trp)
c.1254C>G (p.Cys418Trp)
c.180+200C>G
c.*245C>G (n.*245C>G)
c.1626C>G (p.Cys542Trp)
22g.50625163G>TCA412166677ARSAc.1512C>A (p.Cys504Ter)
c.1254C>A (p.Cys418Ter)
c.180+200C>A
c.*245C>A (n.*245C>A)
c.1626C>A (p.Cys542Ter)
 gnomAD v4
22g.50625163_50625164delinsGCCA2410958343ARSAc.1511_1512delinsGC (p.Cys504=)
c.1253_1254delinsGC (p.Cys418=)
c.180+199_180+200delinsGC
c.*244_*245delinsGC (n.*244_*245delinsGC)
c.1625_1626delinsGC (p.Cys542=)
22g.50625164delCA640358552ARSAc.1511del (p.Cys504SerfsTer16)
c.1253del (p.Cys418SerfsTer16)
c.180+199del
c.*244del (n.*244del)
c.1625del (p.Cys542SerfsTer16)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50625164C>ACA412166684ARSAc.1511G>T (p.Cys504Phe)
c.1253G>T (p.Cys418Phe)
c.180+199G>T
c.*244G>T (n.*244G>T)
c.1625G>T (p.Cys542Phe)
 gnomAD v4
22g.50625164C>GCA412166686ARSAc.1511G>C (p.Cys504Ser)
c.1253G>C (p.Cys418Ser)
c.180+199G>C
c.*244G>C (n.*244G>C)
c.1625G>C (p.Cys542Ser)
22g.50625164C>TCA412166689ARSAc.1511G>A (p.Cys504Tyr)
c.1253G>A (p.Cys418Tyr)
c.180+199G>A
c.*244G>A (n.*244G>A)
c.1625G>A (p.Cys542Tyr)
 gnomAD v4
22g.50625165A>CCA412166691ARSAc.1510T>G (p.Cys504Gly)
c.1252T>G (p.Cys418Gly)
c.180+198T>G
c.*243T>G (n.*243T>G)
c.1624T>G (p.Cys542Gly)
22g.50625165A>GCA412166693ARSAc.1510T>C (p.Cys504Arg)
c.1252T>C (p.Cys418Arg)
c.180+198T>C
c.*243T>C (n.*243T>C)
c.1624T>C (p.Cys542Arg)
22g.50625165A>TCA412166697ARSAc.1510T>A (p.Cys504Ser)
c.1252T>A (p.Cys418Ser)
c.180+198T>A
c.*243T>A (n.*243T>A)
c.1624T>A (p.Cys542Ser)
22g.50625166A>CCA412166701ARSAc.1509T>G (p.His503Gln)
c.1251T>G (p.His417Gln)
c.180+197T>G
c.*242T>G (n.*242T>G)
c.1623T>G (p.His541Gln)
 gnomAD v4
22g.50625166A>GCA515390788ARSAc.1509T>C (p.His503=)
c.1251T>C (p.His417=)
c.180+197T>C
c.*242T>C (n.*242T>C)
c.1623T>C (p.His541=)
22g.50625166A>TCA412166703ARSAc.1509T>A (p.His503Gln)
c.1251T>A (p.His417Gln)
c.180+197T>A
c.*242T>A (n.*242T>A)
c.1623T>A (p.His541Gln)
22g.50625167T>ACA412166718ARSAc.1508A>T (p.His503Leu)
c.1250A>T (p.His417Leu)
c.180+196A>T
c.*241A>T (n.*241A>T)
c.1622A>T (p.His541Leu)
 gnomAD v4
22g.50625167T>CCA412166712ARSAc.1508A>G (p.His503Arg)
c.1250A>G (p.His417Arg)
c.180+196A>G
c.*241A>G (n.*241A>G)
c.1622A>G (p.His541Arg)
 gnomAD v4
22g.50625167T>GCA412166711ARSAc.1508A>C (p.His503Pro)
c.1250A>C (p.His417Pro)
c.180+196A>C
c.*241A>C (n.*241A>C)
c.1622A>C (p.His541Pro)
22g.50625168G>ACA10324716ARSAc.1507C>T (p.His503Tyr)
c.1249C>T (p.His417Tyr)
c.180+195C>T
c.*240C>T (n.*240C>T)
c.1621C>T (p.His541Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50625168G>CCA412166728ARSAc.1507C>G (p.His503Asp)
c.1249C>G (p.His417Asp)
c.180+195C>G
c.*240C>G (n.*240C>G)
c.1621C>G (p.His541Asp)
 dbSNP
22g.50625168G=CA2410958344ARSAc.1507C= (p.His503=)
c.1249C= (p.His417=)
c.180+195C=
c.*240C= (n.*240C=)
c.1621C= (p.His541=)
22g.50625168G>TCA412166729ARSAc.1507C>A (p.His503Asn)
c.1249C>A (p.His417Asn)
c.180+195C>A
c.*240C>A (n.*240C>A)
c.1621C>A (p.His541Asn)
 gnomAD v4
22g.50625169G>ACA515390793ARSAc.1506C>T (p.Cys502=)
c.1248C>T (p.Cys416=)
c.180+194C>T
c.*239C>T (n.*239C>T)
c.1620C>T (p.Cys540=)
 gnomAD v4 COSMIC
22g.50625169G>CCA412166730ARSAc.1506C>G (p.Cys502Trp)
c.1248C>G (p.Cys416Trp)
c.180+194C>G
c.*239C>G (n.*239C>G)
c.1620C>G (p.Cys540Trp)
 gnomAD v4
22g.50625169G>TCA412166732ARSAc.1506C>A (p.Cys502Ter)
c.1248C>A (p.Cys416Ter)
c.180+194C>A
c.*239C>A (n.*239C>A)
c.1620C>A (p.Cys540Ter)
 gnomAD v4
22g.50625170C>ACA412166735ARSAc.1505G>T (p.Cys502Phe)
c.1247G>T (p.Cys416Phe)
c.180+193G>T
c.*238G>T (n.*238G>T)
c.1619G>T (p.Cys540Phe)
 gnomAD v4 COSMIC
22g.50625170C>GCA412166744ARSAc.1505G>C (p.Cys502Ser)
c.1247G>C (p.Cys416Ser)
c.180+193G>C
c.*238G>C (n.*238G>C)
c.1619G>C (p.Cys540Ser)
22g.50625170C>TCA412166749ARSAc.1505G>A (p.Cys502Tyr)
c.1247G>A (p.Cys416Tyr)
c.180+193G>A
c.*238G>A (n.*238G>A)
c.1619G>A (p.Cys540Tyr)
 gnomAD v4
22g.50625171A>CCA412166753ARSAc.1504T>G (p.Cys502Gly)
c.1246T>G (p.Cys416Gly)
c.180+192T>G
c.*237T>G (n.*237T>G)
c.1618T>G (p.Cys540Gly)
22g.50625171A>GCA412166754ARSAc.1504T>C (p.Cys502Arg)
c.1246T>C (p.Cys416Arg)
c.180+192T>C
c.*237T>C (n.*237T>C)
c.1618T>C (p.Cys540Arg)
22g.50625171A>TCA412166755ARSAc.1504T>A (p.Cys502Ser)
c.1246T>A (p.Cys416Ser)
c.180+192T>A
c.*237T>A (n.*237T>A)
c.1618T>A (p.Cys540Ser)
 gnomAD v4
22g.50625172G>ACA515390803ARSAc.1503C>T (p.Cys501=)
c.1245C>T (p.Cys415=)
c.180+191C>T
c.*236C>T (n.*236C>T)
c.1617C>T (p.Cys539=)
 gnomAD v4
22g.50625172G>CCA412166757ARSAc.1503C>G (p.Cys501Trp)
c.1245C>G (p.Cys415Trp)
c.180+191C>G
c.*236C>G (n.*236C>G)
c.1617C>G (p.Cys539Trp)
22g.50625172G>TCA412166762ARSAc.1503C>A (p.Cys501Ter)
c.1245C>A (p.Cys415Ter)
c.180+191C>A
c.*236C>A (n.*236C>A)
c.1617C>A (p.Cys539Ter)
 gnomAD v4
22g.50625173C>ACA412166770ARSAc.1502G>T (p.Cys501Phe)
c.1244G>T (p.Cys415Phe)
c.180+190G>T
c.*235G>T (n.*235G>T)
c.1616G>T (p.Cys539Phe)
 gnomAD v4
22g.50625173C>GCA412166774ARSAc.1502G>C (p.Cys501Ser)
c.1244G>C (p.Cys415Ser)
c.180+190G>C
c.*235G>C (n.*235G>C)
c.1616G>C (p.Cys539Ser)
22g.50625173C>TCA412166766ARSAc.1502G>A (p.Cys501Tyr)
c.1244G>A (p.Cys415Tyr)
c.180+190G>A
c.*235G>A (n.*235G>A)
c.1616G>A (p.Cys539Tyr)
 gnomAD v4
22g.50625174A>CCA412166778ARSAc.1501T>G (p.Cys501Gly)
c.1243T>G (p.Cys415Gly)
c.180+189T>G
c.*234T>G (n.*234T>G)
c.1615T>G (p.Cys539Gly)
22g.50625174A>GCA412166782ARSAc.1501T>C (p.Cys501Arg)
c.1243T>C (p.Cys415Arg)
c.180+189T>C
c.*234T>C (n.*234T>C)
c.1615T>C (p.Cys539Arg)
22g.50625174A>TCA412166797ARSAc.1501T>A (p.Cys501Ser)
c.1243T>A (p.Cys415Ser)
c.180+189T>A
c.*234T>A (n.*234T>A)
c.1615T>A (p.Cys539Ser)
22g.50625175A=CA2410958345ARSAc.1500T= (p.Ala500=)
c.1242T= (p.Ala414=)
c.180+188T=
c.*233T= (n.*233T=)
c.1614T= (p.Ala538=)
22g.50625175A>CCA515390818ARSAc.1500T>G (p.Ala500=)
c.1242T>G (p.Ala414=)
c.180+188T>G
c.*233T>G (n.*233T>G)
c.1614T>G (p.Ala538=)
22g.50625175A>GCA10324717ARSAc.1500T>C (p.Ala500=)
c.1242T>C (p.Ala414=)
c.180+188T>C
c.*233T>C (n.*233T>C)
c.1614T>C (p.Ala538=)
 ClinVar dbSNP ExAC gnomAD v4
22g.50625175A>TCA515390819ARSAc.1500T>A (p.Ala500=)
c.1242T>A (p.Ala414=)
c.180+188T>A
c.*233T>A (n.*233T>A)
c.1614T>A (p.Ala538=)
22g.50625176G>ACA412166812ARSAc.1499C>T (p.Ala500Val)
c.1241C>T (p.Ala414Val)
c.180+187C>T
c.*232C>T (n.*232C>T)
c.1613C>T (p.Ala538Val)
 dbSNP gnomAD v2 gnomAD v4
22g.50625176G>CCA412166822ARSAc.1499C>G (p.Ala500Gly)
c.1241C>G (p.Ala414Gly)
c.180+187C>G
c.*232C>G (n.*232C>G)
c.1613C>G (p.Ala538Gly)
22g.50625176G=CA2410958346ARSAc.1499C= (p.Ala500=)
c.1241C= (p.Ala414=)
c.180+187C=
c.*232C= (n.*232C=)
c.1613C= (p.Ala538=)
22g.50625176G>TCA412166826ARSAc.1499C>A (p.Ala500Asp)
c.1241C>A (p.Ala414Asp)
c.180+187C>A
c.*232C>A (n.*232C>A)
c.1613C>A (p.Ala538Asp)
 gnomAD v4
22g.50625177C>ACA412166831ARSAc.1498G>T (p.Ala500Ser)
c.1240G>T (p.Ala414Ser)
c.180+186G>T
c.*231G>T (n.*231G>T)
c.1612G>T (p.Ala538Ser)
 gnomAD v4
22g.50625177C>GCA412166835ARSAc.1498G>C (p.Ala500Pro)
c.1240G>C (p.Ala414Pro)
c.180+186G>C
c.*231G>C (n.*231G>C)
c.1612G>C (p.Ala538Pro)
22g.50625177C>TCA412166839ARSAc.1498G>A (p.Ala500Thr)
c.1240G>A (p.Ala414Thr)
c.180+186G>A
c.*231G>A (n.*231G>A)
c.1612G>A (p.Ala538Thr)
 gnomAD v4
22g.50625178T>ACA515390825ARSAc.1497A>T (p.Pro499=)
c.1239A>T (p.Pro413=)
c.180+185A>T
c.*230A>T (n.*230A>T)
c.1611A>T (p.Pro537=)
22g.50625178T>CCA515390826ARSAc.1497A>G (p.Pro499=)
c.1239A>G (p.Pro413=)
c.180+185A>G
c.*230A>G (n.*230A>G)
c.1611A>G (p.Pro537=)
22g.50625178T>GCA515390827ARSAc.1497A>C (p.Pro499=)
c.1239A>C (p.Pro413=)
c.180+185A>C
c.*230A>C (n.*230A>C)
c.1611A>C (p.Pro537=)
22g.50625179G>ACA412166843ARSAc.1496C>T (p.Pro499Leu)
c.1238C>T (p.Pro413Leu)
c.180+184C>T
c.*229C>T (n.*229C>T)
c.1610C>T (p.Pro537Leu)
22g.50625179G>CCA412166844ARSAc.1496C>G (p.Pro499Arg)
c.1238C>G (p.Pro413Arg)
c.180+184C>G
c.*229C>G (n.*229C>G)
c.1610C>G (p.Pro537Arg)
22g.50625179G>TCA412166845ARSAc.1496C>A (p.Pro499Gln)
c.1238C>A (p.Pro413Gln)
c.180+184C>A
c.*229C>A (n.*229C>A)
c.1610C>A (p.Pro537Gln)
22g.50625182_50625185delCA913088699ARSAc.1493_1496del (p.Arg498GlnfsTer21)
c.1235_1238del (p.Arg412GlnfsTer21)
c.180+181_180+184del
c.*226_*229del (n.*226_*229del)
c.1607_1610del (p.Arg536GlnfsTer21)
22g.50625180G>ACA412166849ARSAc.1495C>T (p.Pro499Ser)
c.1237C>T (p.Pro413Ser)
c.180+183C>T
c.*228C>T (n.*228C>T)
c.1609C>T (p.Pro537Ser)
 dbSNP gnomAD v4
22g.50625180G>CCA412166855ARSAc.1495C>G (p.Pro499Ala)
c.1237C>G (p.Pro413Ala)
c.180+183C>G
c.*228C>G (n.*228C>G)
c.1609C>G (p.Pro537Ala)
 dbSNP gnomAD v3 gnomAD v4
22g.50625180G=CA2410958347ARSAc.1495C= (p.Pro499=)
c.1237C= (p.Pro413=)
c.180+183C=
c.*228C= (n.*228C=)
c.1609C= (p.Pro537=)
22g.50625180G>TCA412166854ARSAc.1495C>A (p.Pro499Thr)
c.1237C>A (p.Pro413Thr)
c.180+183C>A
c.*228C>A (n.*228C>A)
c.1609C>A (p.Pro537Thr)
 gnomAD v4
22g.50625181G>ACA515390832ARSAc.1494C>T (p.Arg498=)
c.1236C>T (p.Arg412=)
c.180+182C>T
c.*227C>T (n.*227C>T)
c.1608C>T (p.Arg536=)
 gnomAD v4
22g.50625181G>CCA515390833ARSAc.1494C>G (p.Arg498=)
c.1236C>G (p.Arg412=)
c.180+182C>G
c.*227C>G (n.*227C>G)
c.1608C>G (p.Arg536=)
22g.50625181G>TCA515390835ARSAc.1494C>A (p.Arg498=)
c.1236C>A (p.Arg412=)
c.180+182C>A
c.*227C>A (n.*227C>A)
c.1608C>A (p.Arg536=)
 gnomAD v4
22g.50625182delCA2657590636ARSAc.1493del (p.Arg498ProfsTer22)
c.1235del (p.Arg412ProfsTer22)
c.180+181del
c.*226del (n.*226del)
c.1607del (p.Arg536ProfsTer22)
 gnomAD v4
22g.50625182C>ACA10324719ARSAc.1493G>T (p.Arg498Leu)
c.1235G>T (p.Arg412Leu)
c.180+181G>T
c.*226G>T (n.*226G>T)
c.1607G>T (p.Arg536Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50625182C=CA2410958348ARSAc.1493G= (p.Arg498=)
c.1235G= (p.Arg412=)
c.180+181G=
c.*226G= (n.*226G=)
c.1607G= (p.Arg536=)
22g.50625182C>GCA412166858ARSAc.1493G>C (p.Arg498Pro)
c.1235G>C (p.Arg412Pro)
c.180+181G>C
c.*226G>C (n.*226G>C)
c.1607G>C (p.Arg536Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50625182C>TCA146671ARSAc.1493G>A (p.Arg498His)
c.1235G>A (p.Arg412His)
c.180+181G>A
c.*226G>A (n.*226G>A)
c.1607G>A (p.Arg536His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50625182_50625185delinsCGGGCA2410958349ARSAc.1490_1493delinsCCCG (p.Pro497=)
c.1232_1235delinsCCCG (p.Pro411=)
c.180+178_180+181delinsCCCG
c.*223_*226delinsCCCG (n.*223_*226delinsCCCG)
c.1604_1607delinsCCCG (p.Pro535=)
22g.50625183G>ACA325531157ARSAc.1492C>T (p.Arg498Cys)
c.1234C>T (p.Arg412Cys)
c.180+180C>T
c.*225C>T (n.*225C>T)
c.1606C>T (p.Arg536Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50625183G>CCA412166873ARSAc.1492C>G (p.Arg498Gly)
c.1234C>G (p.Arg412Gly)
c.180+180C>G
c.*225C>G (n.*225C>G)
c.1606C>G (p.Arg536Gly)
22g.50625183G=CA2410958350ARSAc.1492C= (p.Arg498=)
c.1234C= (p.Arg412=)
c.180+180C=
c.*225C= (n.*225C=)
c.1606C= (p.Arg536=)
22g.50625183G>TCA412166875ARSAc.1492C>A (p.Arg498Ser)
c.1234C>A (p.Arg412Ser)
c.180+180C>A
c.*225C>A (n.*225C>A)
c.1606C>A (p.Arg536Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50625188dupCA10324718ARSAc.1492dup (p.Arg498ProfsTer?)
c.1234dup (p.Arg412ProfsTer?)
c.180+180dup
c.*225dup (n.*225dup)
c.1606dup (p.Arg536ProfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50625185_50625188dupCA278472ARSAc.1489_1492dup (p.Arg498ProfsTer?)
c.1231_1234dup (p.Arg412ProfsTer?)
c.180+177_180+180dup
c.*222_*225dup (n.*222_*225dup)
c.1603_1606dup (p.Arg536ProfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50625183_50625188dupCA2695231019ARSAc.1487_1492dup (p.Pro497_Arg498insProPro)
c.1229_1234dup (p.Pro411_Arg412insProPro)
c.180+175_180+180dup
c.*220_*225dup (n.*220_*225dup)
c.1601_1606dup (p.Pro535_Arg536insProPro)
22g.50625188delCA412166882ARSAc.1492del (p.Arg498AlafsTer22)
c.1234del (p.Arg412AlafsTer22)
c.180+180del
c.*225del (n.*225del)
c.1606del (p.Arg536AlafsTer22)
 ClinVar dbSNP gnomAD v4
22g.50625186_50625188delCA658824681ARSAc.1490_1492del (p.Pro497del)
c.1232_1234del (p.Pro411del)
c.180+178_180+180del
c.*223_*225del (n.*223_*225del)
c.1604_1606del (p.Pro535del)
 ClinVar dbSNP
22g.50625183_50625190delCA2657590647ARSAc.1485_1492del (p.Cys495TrpfsTer?)
c.1227_1234del (p.Cys409TrpfsTer?)
c.180+173_180+180del
c.*218_*225del (n.*218_*225del)
c.1599_1606del (p.Cys533TrpfsTer?)
 gnomAD v4
22g.50625184G>ACA515390849ARSAc.1491C>T (p.Pro497=)
c.1233C>T (p.Pro411=)
c.180+179C>T
c.*224C>T (n.*224C>T)
c.1605C>T (p.Pro535=)
22g.50625184G>CCA515390851ARSAc.1491C>G (p.Pro497=)
c.1233C>G (p.Pro411=)
c.180+179C>G
c.*224C>G (n.*224C>G)
c.1605C>G (p.Pro535=)
22g.50625184G>TCA515390854ARSAc.1491C>A (p.Pro497=)
c.1233C>A (p.Pro411=)
c.180+179C>A
c.*224C>A (n.*224C>A)
c.1605C>A (p.Pro535=)
 gnomAD v4
22g.50625185G>ACA412166891ARSAc.1490C>T (p.Pro497Leu)
c.1232C>T (p.Pro411Leu)
c.180+178C>T
c.*223C>T (n.*223C>T)
c.1604C>T (p.Pro535Leu)
 gnomAD v4
22g.50625185G>CCA412166890ARSAc.1490C>G (p.Pro497Arg)
c.1232C>G (p.Pro411Arg)
c.180+178C>G
c.*223C>G (n.*223C>G)
c.1604C>G (p.Pro535Arg)
22g.50625185G>TCA412166886ARSAc.1490C>A (p.Pro497His)
c.1232C>A (p.Pro411His)
c.180+178C>A
c.*223C>A (n.*223C>A)
c.1604C>A (p.Pro535His)
 gnomAD v4
22g.50625186G>ACA412166894ARSAc.1489C>T (p.Pro497Ser)
c.1231C>T (p.Pro411Ser)
c.180+177C>T
c.*222C>T (n.*222C>T)
c.1603C>T (p.Pro535Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50625186G>CCA412166904ARSAc.1489C>G (p.Pro497Ala)
c.1231C>G (p.Pro411Ala)
c.180+177C>G
c.*222C>G (n.*222C>G)
c.1603C>G (p.Pro535Ala)
22g.50625186G=CA2410958351ARSAc.1489C= (p.Pro497=)
c.1231C= (p.Pro411=)
c.180+177C=
c.*222C= (n.*222C=)
c.1603C= (p.Pro535=)
22g.50625186G>TCA412166896ARSAc.1489C>A (p.Pro497Thr)
c.1231C>A (p.Pro411Thr)
c.180+177C>A
c.*222C>A (n.*222C>A)
c.1603C>A (p.Pro535Thr)
22g.50625187G>ACA515390859ARSAc.1488C>T (p.Thr496=)
c.1230C>T (p.Thr410=)
c.180+176C>T
c.*221C>T (n.*221C>T)
c.1602C>T (p.Thr534=)
 gnomAD v4
22g.50625187G>CCA515390860ARSAc.1488C>G (p.Thr496=)
c.1230C>G (p.Thr410=)
c.180+176C>G
c.*221C>G (n.*221C>G)
c.1602C>G (p.Thr534=)
 ClinVar
22g.50625187G>TCA515390862ARSAc.1488C>A (p.Thr496=)
c.1230C>A (p.Thr410=)
c.180+176C>A
c.*221C>A (n.*221C>A)
c.1602C>A (p.Thr534=)
 gnomAD v4
22g.50625188G>ACA10324720ARSAc.1487C>T (p.Thr496Ile)
c.1229C>T (p.Thr410Ile)
c.180+175C>T
c.*220C>T (n.*220C>T)
c.1601C>T (p.Thr534Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50625188G>CCA412166911ARSAc.1487C>G (p.Thr496Ser)
c.1229C>G (p.Thr410Ser)
c.180+175C>G
c.*220C>G (n.*220C>G)
c.1601C>G (p.Thr534Ser)
22g.50625188G=CA2410958352ARSAc.1487C= (p.Thr496=)
c.1229C= (p.Thr410=)
c.180+175C=
c.*220C= (n.*220C=)
c.1601C= (p.Thr534=)
22g.50625188G>TCA412166917ARSAc.1487C>A (p.Thr496Asn)
c.1229C>A (p.Thr410Asn)
c.180+175C>A
c.*220C>A (n.*220C>A)
c.1601C>A (p.Thr534Asn)
 gnomAD v4
22g.50625189T>ACA412166920ARSAc.1486A>T (p.Thr496Ser)
c.1228A>T (p.Thr410Ser)
c.180+174A>T
c.*219A>T (n.*219A>T)
c.1600A>T (p.Thr534Ser)
 gnomAD v4
22g.50625189T>CCA412166925ARSAc.1486A>G (p.Thr496Ala)
c.1228A>G (p.Thr410Ala)
c.180+174A>G
c.*219A>G (n.*219A>G)
c.1600A>G (p.Thr534Ala)
 dbSNP gnomAD v2 gnomAD v4
22g.50625189T>GCA412166929ARSAc.1486A>C (p.Thr496Pro)
c.1228A>C (p.Thr410Pro)
c.180+174A>C
c.*219A>C (n.*219A>C)
c.1600A>C (p.Thr534Pro)
 ClinVar dbSNP gnomAD v4
22g.50625189T=CA2410958353ARSAc.1486A= (p.Thr496=)
c.1228A= (p.Thr410=)
c.180+174A=
c.*219A= (n.*219A=)
c.1600A= (p.Thr534=)
22g.50625190G>ACA515390875ARSAc.1485C>T (p.Cys495=)
c.1227C>T (p.Cys409=)
c.180+173C>T
c.*218C>T (n.*218C>T)
c.1599C>T (p.Cys533=)
 dbSNP gnomAD v2 gnomAD v4
22g.50625190G>CCA412166936ARSAc.1485C>G (p.Cys495Trp)
c.1227C>G (p.Cys409Trp)
c.180+173C>G
c.*218C>G (n.*218C>G)
c.1599C>G (p.Cys533Trp)
22g.50625190G=CA2410958354ARSAc.1485C= (p.Cys495=)
c.1227C= (p.Cys409=)
c.180+173C=
c.*218C= (n.*218C=)
c.1599C= (p.Cys533=)
22g.50625190G>TCA412166941ARSAc.1485C>A (p.Cys495Ter)
c.1227C>A (p.Cys409Ter)
c.180+173C>A
c.*218C>A (n.*218C>A)
c.1599C>A (p.Cys533Ter)
 gnomAD v4
22g.50625191C>ACA412166946ARSAc.1484G>T (p.Cys495Phe)
c.1226G>T (p.Cys409Phe)
c.180+172G>T
c.*217G>T (n.*217G>T)
c.1598G>T (p.Cys533Phe)
 gnomAD v4
22g.50625191C>GCA412166952ARSAc.1484G>C (p.Cys495Ser)
c.1226G>C (p.Cys409Ser)
c.180+172G>C
c.*217G>C (n.*217G>C)
c.1598G>C (p.Cys533Ser)
22g.50625191C>TCA412166956ARSAc.1484G>A (p.Cys495Tyr)
c.1226G>A (p.Cys409Tyr)
c.180+172G>A
c.*217G>A (n.*217G>A)
c.1598G>A (p.Cys533Tyr)
 gnomAD v4
22g.50625192A=CA2410958355ARSAc.1483T= (p.Cys495=)
c.1225T= (p.Cys409=)
c.180+171T=
c.*216T= (n.*216T=)
c.1597T= (p.Cys533=)
22g.50625192A>CCA412166975ARSAc.1483T>G (p.Cys495Gly)
c.1225T>G (p.Cys409Gly)
c.180+171T>G
c.*216T>G (n.*216T>G)
c.1597T>G (p.Cys533Gly)
 ClinVar
22g.50625192A>GCA412166968ARSAc.1483T>C (p.Cys495Arg)
c.1225T>C (p.Cys409Arg)
c.180+171T>C
c.*216T>C (n.*216T>C)
c.1597T>C (p.Cys533Arg)
 dbSNP gnomAD v2 gnomAD v4
22g.50625192A>TCA412166964ARSAc.1483T>A (p.Cys495Ser)
c.1225T>A (p.Cys409Ser)
c.180+171T>A
c.*216T>A (n.*216T>A)
c.1597T>A (p.Cys533Ser)
22g.50625193G>ACA515390885ARSAc.1482C>T (p.Gly494=)
c.1224C>T (p.Gly408=)
c.180+170C>T
c.*215C>T (n.*215C>T)
c.1596C>T (p.Gly532=)
 gnomAD v4
22g.50625193G>CCA515390887ARSAc.1482C>G (p.Gly494=)
c.1224C>G (p.Gly408=)
c.180+170C>G
c.*215C>G (n.*215C>G)
c.1596C>G (p.Gly532=)
22g.50625193G>TCA515390888ARSAc.1482C>A (p.Gly494=)
c.1224C>A (p.Gly408=)
c.180+170C>A
c.*215C>A (n.*215C>A)
c.1596C>A (p.Gly532=)
 gnomAD v4
22g.50625194C>ACA412166980ARSAc.1481G>T (p.Gly494Val)
c.1223G>T (p.Gly408Val)
c.180+169G>T
c.*214G>T (n.*214G>T)
c.1595G>T (p.Gly532Val)
 gnomAD v4
22g.50625194C>GCA412166982ARSAc.1481G>C (p.Gly494Ala)
c.1223G>C (p.Gly408Ala)
c.180+169G>C
c.*214G>C (n.*214G>C)
c.1595G>C (p.Gly532Ala)
22g.50625194C>TCA412166997ARSAc.1481G>A (p.Gly494Asp)
c.1223G>A (p.Gly408Asp)
c.180+169G>A
c.*214G>A (n.*214G>A)
c.1595G>A (p.Gly532Asp)
22g.50625195C>ACA412167002ARSAc.1480G>T (p.Gly494Cys)
c.1222G>T (p.Gly408Cys)
c.180+168G>T
c.*213G>T (n.*213G>T)
c.1594G>T (p.Gly532Cys)
 gnomAD v4
22g.50625195C=CA2410958356ARSAc.1480G= (p.Gly494=)
c.1222G= (p.Gly408=)
c.180+168G=
c.*213G= (n.*213G=)
c.1594G= (p.Gly532=)
22g.50625195C>GCA412167005ARSAc.1480G>C (p.Gly494Arg)
c.1222G>C (p.Gly408Arg)
c.180+168G>C
c.*213G>C (n.*213G>C)
c.1594G>C (p.Gly532Arg)
22g.50625195C>TCA325531161ARSAc.1480G>A (p.Gly494Ser)
c.1222G>A (p.Gly408Ser)
c.180+168G>A
c.*213G>A (n.*213G>A)
c.1594G>A (p.Gly532Ser)
 ClinVar dbSNP
22g.50625196A>CCA515390892ARSAc.1479T>G (p.Pro493=)
c.1221T>G (p.Pro407=)
c.180+167T>G
c.*212T>G (n.*212T>G)
c.1593T>G (p.Pro531=)
22g.50625196A>GCA515390893ARSAc.1479T>C (p.Pro493=)
c.1221T>C (p.Pro407=)
c.180+167T>C
c.*212T>C (n.*212T>C)
c.1593T>C (p.Pro531=)
 gnomAD v4
22g.50625196A>TCA515390895ARSAc.1479T>A (p.Pro493=)
c.1221T>A (p.Pro407=)
c.180+167T>A
c.*212T>A (n.*212T>A)
c.1593T>A (p.Pro531=)
22g.50625197G>ACA412167013ARSAc.1478C>T (p.Pro493Leu)
c.1220C>T (p.Pro407Leu)
c.180+166C>T
c.*211C>T (n.*211C>T)
c.1592C>T (p.Pro531Leu)
 gnomAD v4
22g.50625197G>CCA412167018ARSAc.1478C>G (p.Pro493Arg)
c.1220C>G (p.Pro407Arg)
c.180+166C>G
c.*211C>G (n.*211C>G)
c.1592C>G (p.Pro531Arg)
 gnomAD v4
22g.50625197G>TCA412167024ARSAc.1478C>A (p.Pro493His)
c.1220C>A (p.Pro407His)
c.180+166C>A
c.*211C>A (n.*211C>A)
c.1592C>A (p.Pro531His)
 gnomAD v4

Number of alleles fetched