Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.34269048G>ACA408648235AHCY,ASIPc.280G>A (p.Val94Met)
c.292G>A (p.Val98Met)
c.*7+11979C>T (n.*7+11979C>T)
 COSMIC
20g.34269048G>CCA408648232AHCY,ASIPc.280G>C (p.Val94Leu)
c.292G>C (p.Val98Leu)
c.*7+11979C>G (n.*7+11979C>G)
20g.34269048G>TCA408648229AHCY,ASIPc.280G>T (p.Val94Leu)
c.292G>T (p.Val98Leu)
c.*7+11979C>A (n.*7+11979C>A)
 gnomAD v4
20g.34269049T>ACA408648239AHCY,ASIPc.281T>A (p.Val94Glu)
c.293T>A (p.Val98Glu)
c.*7+11978A>T (n.*7+11978A>T)
20g.34269049T>CCA408648247AHCY,ASIPc.281T>C (p.Val94Ala)
c.293T>C (p.Val98Ala)
c.*7+11978A>G (n.*7+11978A>G)
20g.34269049T>GCA408648250AHCY,ASIPc.281T>G (p.Val94Gly)
c.293T>G (p.Val98Gly)
c.*7+11978A>C (n.*7+11978A>C)
20g.34269050G>ACA510271180AHCY,ASIPc.282G>A (p.Val94=)
c.294G>A (p.Val98=)
c.*7+11977C>T (n.*7+11977C>T)
 gnomAD v4
20g.34269050G>CCA510271181AHCY,ASIPc.282G>C (p.Val94=)
c.294G>C (p.Val98=)
c.*7+11977C>G (n.*7+11977C>G)
20g.34269050G>TCA510271182AHCY,ASIPc.282G>T (p.Val94=)
c.294G>T (p.Val98=)
c.*7+11977C>A (n.*7+11977C>A)
 gnomAD v4
20g.34269051G>ACA408648255AHCY,ASIPc.283G>A (p.Ala95Thr)
c.295G>A (p.Ala99Thr)
c.*7+11976C>T (n.*7+11976C>T)
 dbSNP gnomAD v3 gnomAD v4
20g.34269051G>CCA408648257AHCY,ASIPc.283G>C (p.Ala95Pro)
c.295G>C (p.Ala99Pro)
c.*7+11976C>G (n.*7+11976C>G)
20g.34269051G=CA2361127713AHCY,ASIPc.283G= (p.Ala95=)
c.295G= (p.Ala99=)
c.*7+11976C= (n.*7+11976C=)
20g.34269051G>TCA408648262AHCY,ASIPc.283G>T (p.Ala95Ser)
c.295G>T (p.Ala99Ser)
c.*7+11976C>A (n.*7+11976C>A)
20g.34269052C>ACA408648271AHCY,ASIPc.284C>A (p.Ala95Asp)
c.296C>A (p.Ala99Asp)
c.*7+11975G>T (n.*7+11975G>T)
 gnomAD v4
20g.34269052C>GCA408648264AHCY,ASIPc.284C>G (p.Ala95Gly)
c.296C>G (p.Ala99Gly)
c.*7+11975G>C (n.*7+11975G>C)
20g.34269052C>TCA408648268AHCY,ASIPc.284C>T (p.Ala95Val)
c.296C>T (p.Ala99Val)
c.*7+11975G>A (n.*7+11975G>A)
 gnomAD v4
20g.34269053C>ACA510271183AHCY,ASIPc.285C>A (p.Ala95=)
c.297C>A (p.Ala99=)
c.*7+11974G>T (n.*7+11974G>T)
 gnomAD v4
20g.34269053C=CA2361127714AHCY,ASIPc.285C= (p.Ala95=)
c.297C= (p.Ala99=)
c.*7+11974G= (n.*7+11974G=)
20g.34269053C>GCA510271184AHCY,ASIPc.285C>G (p.Ala95=)
c.297C>G (p.Ala99=)
c.*7+11974G>C (n.*7+11974G>C)
20g.34269053C>TCA510271185AHCY,ASIPc.285C>T (p.Ala95=)
c.297C>T (p.Ala99=)
c.*7+11974G>A (n.*7+11974G>A)
 dbSNP gnomAD v2 gnomAD v4
20g.34269054A>CCA408648274AHCY,ASIPc.286A>C (p.Thr96Pro)
c.298A>C (p.Thr100Pro)
c.*7+11973T>G (n.*7+11973T>G)
 gnomAD v4
20g.34269054A>GCA408648275AHCY,ASIPc.286A>G (p.Thr96Ala)
c.298A>G (p.Thr100Ala)
c.*7+11973T>C (n.*7+11973T>C)
20g.34269054A>TCA408648276AHCY,ASIPc.286A>T (p.Thr96Ser)
c.298A>T (p.Thr100Ser)
c.*7+11973T>A (n.*7+11973T>A)
20g.34269055C>ACA408648280AHCY,ASIPc.287C>A (p.Thr96Asn)
c.299C>A (p.Thr100Asn)
c.*7+11972G>T (n.*7+11972G>T)
 dbSNP
20g.34269055C=CA2361127715AHCY,ASIPc.287C= (p.Thr96=)
c.299C= (p.Thr100=)
c.*7+11972G= (n.*7+11972G=)
20g.34269055C>GCA9820700AHCY,ASIPc.287C>G (p.Thr96Ser)
c.299C>G (p.Thr100Ser)
c.*7+11972G>C (n.*7+11972G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.34269055C>TCA408648290AHCY,ASIPc.287C>T (p.Thr96Ile)
c.299C>T (p.Thr100Ile)
c.*7+11972G>A (n.*7+11972G>A)
20g.34269057delCA2652532341AHCY,ASIPc.289del (p.Arg97AlafsTer?)
c.301del (p.Arg101AlafsTer?)
c.*7+11972del (n.*7+11972del)
 gnomAD v4
20g.34269056C>ACA510271186AHCY,ASIPc.288C>A (p.Thr96=)
c.300C>A (p.Thr100=)
c.*7+11971G>T (n.*7+11971G>T)
20g.34269056C=CA2361127716AHCY,ASIPc.288C= (p.Thr96=)
c.300C= (p.Thr100=)
c.*7+11971G= (n.*7+11971G=)
20g.34269056C>GCA510271187AHCY,ASIPc.288C>G (p.Thr96=)
c.300C>G (p.Thr100=)
c.*7+11971G>C (n.*7+11971G>C)
 gnomAD v4
20g.34269056C>TCA9820701AHCY,ASIPc.288C>T (p.Thr96=)
c.300C>T (p.Thr100=)
c.*7+11971G>A (n.*7+11971G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.34269057C>ACA408648296AHCY,ASIPc.289C>A (p.Arg97Ser)
c.301C>A (p.Arg101Ser)
c.*7+11970G>T (n.*7+11970G>T)
 gnomAD v4
20g.34269057C>GCA408648303AHCY,ASIPc.289C>G (p.Arg97Gly)
c.301C>G (p.Arg101Gly)
c.*7+11970G>C (n.*7+11970G>C)
20g.34269057C>TCA408648306AHCY,ASIPc.289C>T (p.Arg97Cys)
c.301C>T (p.Arg101Cys)
c.*7+11970G>A (n.*7+11970G>A)
 gnomAD v4
20g.34269058G>ACA9820702AHCY,ASIPc.290G>A (p.Arg97His)
c.302G>A (p.Arg101His)
c.*7+11969C>T (n.*7+11969C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.34269058G>CCA408648310AHCY,ASIPc.290G>C (p.Arg97Pro)
c.302G>C (p.Arg101Pro)
c.*7+11969C>G (n.*7+11969C>G)
 dbSNP gnomAD v2 gnomAD v4
20g.34269058G=CA2361127717AHCY,ASIPc.290G= (p.Arg97=)
c.302G= (p.Arg101=)
c.*7+11969C= (n.*7+11969C=)
20g.34269058G>TCA408648314AHCY,ASIPc.290G>T (p.Arg97Leu)
c.302G>T (p.Arg101Leu)
c.*7+11969C>A (n.*7+11969C>A)
 gnomAD v4
20g.34269059C>ACA510271188AHCY,ASIPc.291C>A (p.Arg97=)
c.303C>A (p.Arg101=)
c.*7+11968G>T (n.*7+11968G>T)
 gnomAD v4
20g.34269059C=CA2361127718AHCY,ASIPc.291C= (p.Arg97=)
c.303C= (p.Arg101=)
c.*7+11968G= (n.*7+11968G=)
20g.34269059C>GCA510271189AHCY,ASIPc.291C>G (p.Arg97=)
c.303C>G (p.Arg101=)
c.*7+11968G>C (n.*7+11968G>C)
20g.34269059C>TCA510271190AHCY,ASIPc.291C>T (p.Arg97=)
c.303C>T (p.Arg101=)
c.*7+11968G>A (n.*7+11968G>A)
 dbSNP gnomAD v4
20g.34269060A>CCA408648319AHCY,ASIPc.292A>C (p.Asn98His)
c.304A>C (p.Asn102His)
c.*7+11967T>G (n.*7+11967T>G)
20g.34269060A>GCA408648328AHCY,ASIPc.292A>G (p.Asn98Asp)
c.304A>G (p.Asn102Asp)
c.*7+11967T>C (n.*7+11967T>C)
20g.34269060A>TCA408648322AHCY,ASIPc.292A>T (p.Asn98Tyr)
c.304A>T (p.Asn102Tyr)
c.*7+11967T>A (n.*7+11967T>A)
 gnomAD v4
20g.34269061A=CA2361127719AHCY,ASIPc.293A= (p.Asn98=)
c.305A= (p.Asn102=)
c.*7+11966T= (n.*7+11966T=)
20g.34269061A>CCA408648330AHCY,ASIPc.293A>C (p.Asn98Thr)
c.305A>C (p.Asn102Thr)
c.*7+11966T>G (n.*7+11966T>G)
20g.34269061A>GCA408648341AHCY,ASIPc.293A>G (p.Asn98Ser)
c.305A>G (p.Asn102Ser)
c.*7+11966T>C (n.*7+11966T>C)
 dbSNP gnomAD v2 gnomAD v4
20g.34269061A>TCA408648345AHCY,ASIPc.293A>T (p.Asn98Ile)
c.305A>T (p.Asn102Ile)
c.*7+11966T>A (n.*7+11966T>A)
 gnomAD v4
20g.34269062_34269063insCCAAACACACCCAACACCA2816205311AHCY,ASIPc.294_295insCCAAACACACCCAACAC (p.Ser99ProfsTer?)
c.306_307insCCAAACACACCCAACAC (p.Ser103ProfsTer?)
c.*7+11966_*7+11967insGTTGGGTGTGTTTGGGT (n.*7+11966_*7+11967insGTTGGGTGTGTTTGGGT)
20g.34269062C>ACA408648349AHCY,ASIPc.294C>A (p.Asn98Lys)
c.306C>A (p.Asn102Lys)
c.*7+11965G>T (n.*7+11965G>T)
 gnomAD v4
20g.34269062C>GCA408648353AHCY,ASIPc.294C>G (p.Asn98Lys)
c.306C>G (p.Asn102Lys)
c.*7+11965G>C (n.*7+11965G>C)
20g.34269062C>TCA510271192AHCY,ASIPc.294C>T (p.Asn98=)
c.306C>T (p.Asn102=)
c.*7+11965G>A (n.*7+11965G>A)
20g.34269063A>CCA408648354AHCY,ASIPc.295A>C (p.Ser99Arg)
c.307A>C (p.Ser103Arg)
c.*7+11964T>G (n.*7+11964T>G)
20g.34269063A>GCA408648355AHCY,ASIPc.295A>G (p.Ser99Gly)
c.307A>G (p.Ser103Gly)
c.*7+11964T>C (n.*7+11964T>C)
20g.34269063A>TCA408648366AHCY,ASIPc.295A>T (p.Ser99Cys)
c.307A>T (p.Ser103Cys)
c.*7+11964T>A (n.*7+11964T>A)
20g.34269064G>ACA408648383AHCY,ASIPc.296G>A (p.Ser99Asn)
c.308G>A (p.Ser103Asn)
c.*7+11963C>T (n.*7+11963C>T)
20g.34269064G>CCA408648386AHCY,ASIPc.296G>C (p.Ser99Thr)
c.308G>C (p.Ser103Thr)
c.*7+11963C>G (n.*7+11963C>G)
 dbSNP
20g.34269064G=CA2361127720AHCY,ASIPc.296G= (p.Ser99=)
c.308G= (p.Ser103=)
c.*7+11963C= (n.*7+11963C=)
20g.34269064G>TCA408648392AHCY,ASIPc.296G>T (p.Ser99Ile)
c.308G>T (p.Ser103Ile)
c.*7+11963C>A (n.*7+11963C>A)
 gnomAD v4
20g.34269065C>ACA408648400AHCY,ASIPc.297C>A (p.Ser99Arg)
c.309C>A (p.Ser103Arg)
c.*7+11962G>T (n.*7+11962G>T)
 gnomAD v4
20g.34269065C=CA2361127721AHCY,ASIPc.297C= (p.Ser99=)
c.309C= (p.Ser103=)
c.*7+11962G= (n.*7+11962G=)
20g.34269065C>GCA9820703AHCY,ASIPc.297C>G (p.Ser99Arg)
c.309C>G (p.Ser103Arg)
c.*7+11962G>C (n.*7+11962G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.34269065C>TCA510271193AHCY,ASIPc.297C>T (p.Ser99=)
c.309C>T (p.Ser103=)
c.*7+11962G>A (n.*7+11962G>A)
 gnomAD v4
20g.34269066T>ACA408648410AHCY,ASIPc.298T>A (p.Cys100Ser)
c.310T>A (p.Cys104Ser)
c.*7+11961A>T (n.*7+11961A>T)
 gnomAD v4
20g.34269066T>CCA408648418AHCY,ASIPc.298T>C (p.Cys100Arg)
c.310T>C (p.Cys104Arg)
c.*7+11961A>G (n.*7+11961A>G)
 dbSNP gnomAD v2 gnomAD v4
20g.34269066T>GCA408648416AHCY,ASIPc.298T>G (p.Cys100Gly)
c.310T>G (p.Cys104Gly)
c.*7+11961A>C (n.*7+11961A>C)
20g.34269066T=CA2361127722AHCY,ASIPc.298T= (p.Cys100=)
c.310T= (p.Cys104=)
c.*7+11961A= (n.*7+11961A=)
20g.34269067G>ACA408648422AHCY,ASIPc.299G>A (p.Cys100Tyr)
c.311G>A (p.Cys104Tyr)
c.*7+11960C>T (n.*7+11960C>T)
 gnomAD v4
20g.34269067G>CCA408648425AHCY,ASIPc.299G>C (p.Cys100Ser)
c.311G>C (p.Cys104Ser)
c.*7+11960C>G (n.*7+11960C>G)
20g.34269067G>TCA408648426AHCY,ASIPc.299G>T (p.Cys100Phe)
c.311G>T (p.Cys104Phe)
c.*7+11960C>A (n.*7+11960C>A)
 gnomAD v4
20g.34269068C>ACA408648429AHCY,ASIPc.300C>A (p.Cys100Ter)
c.312C>A (p.Cys104Ter)
c.*7+11959G>T (n.*7+11959G>T)
 gnomAD v4
20g.34269068C>GCA408648433AHCY,ASIPc.300C>G (p.Cys100Trp)
c.312C>G (p.Cys104Trp)
c.*7+11959G>C (n.*7+11959G>C)
20g.34269068C>TCA510271194AHCY,ASIPc.300C>T (p.Cys100=)
c.312C>T (p.Cys104=)
c.*7+11959G>A (n.*7+11959G>A)
20g.34269069A>CCA408648434AHCY,ASIPc.301A>C (p.Lys101Gln)
c.313A>C (p.Lys105Gln)
c.*7+11958T>G (n.*7+11958T>G)
20g.34269069A>GCA408648436AHCY,ASIPc.301A>G (p.Lys101Glu)
c.313A>G (p.Lys105Glu)
c.*7+11958T>C (n.*7+11958T>C)
 gnomAD v4
20g.34269069A>TCA408648440AHCY,ASIPc.301A>T (p.Lys101Ter)
c.313A>T (p.Lys105Ter)
c.*7+11958T>A (n.*7+11958T>A)
20g.34269070A>CCA408648446AHCY,ASIPc.302A>C (p.Lys101Thr)
c.314A>C (p.Lys105Thr)
c.*7+11957T>G (n.*7+11957T>G)
20g.34269070A>GCA408648450AHCY,ASIPc.302A>G (p.Lys101Arg)
c.314A>G (p.Lys105Arg)
c.*7+11957T>C (n.*7+11957T>C)
 gnomAD v4
20g.34269070A>TCA408648453AHCY,ASIPc.302A>T (p.Lys101Met)
c.314A>T (p.Lys105Met)
c.*7+11957T>A (n.*7+11957T>A)
20g.34269071G>ACA510271195AHCY,ASIPc.303G>A (p.Lys101=)
c.315G>A (p.Lys105=)
c.*7+11956C>T (n.*7+11956C>T)
 dbSNP gnomAD v3 gnomAD v4
20g.34269071G>CCA408648455AHCY,ASIPc.303G>C (p.Lys101Asn)
c.315G>C (p.Lys105Asn)
c.*7+11956C>G (n.*7+11956C>G)
20g.34269071G=CA2361127723AHCY,ASIPc.303G= (p.Lys101=)
c.315G= (p.Lys105=)
c.*7+11956C= (n.*7+11956C=)
20g.34269071G>TCA408648458AHCY,ASIPc.303G>T (p.Lys101Asn)
c.315G>T (p.Lys105Asn)
c.*7+11956C>A (n.*7+11956C>A)
20g.34269072C>ACA408648462AHCY,ASIPc.304C>A (p.Pro102Thr)
c.316C>A (p.Pro106Thr)
c.*7+11955G>T (n.*7+11955G>T)
 dbSNP gnomAD v4
20g.34269072C=CA2361127724AHCY,ASIPc.304C= (p.Pro102=)
c.316C= (p.Pro106=)
c.*7+11955G= (n.*7+11955G=)
20g.34269072C>GCA408648469AHCY,ASIPc.304C>G (p.Pro102Ala)
c.316C>G (p.Pro106Ala)
c.*7+11955G>C (n.*7+11955G>C)
20g.34269072C>TCA408648465AHCY,ASIPc.304C>T (p.Pro102Ser)
c.316C>T (p.Pro106Ser)
c.*7+11955G>A (n.*7+11955G>A)
 gnomAD v4
20g.34269073C>ACA408648472AHCY,ASIPc.305C>A (p.Pro102Gln)
c.317C>A (p.Pro106Gln)
c.*7+11954G>T (n.*7+11954G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34269073C=CA2361127725AHCY,ASIPc.305C= (p.Pro102=)
c.317C= (p.Pro106=)
c.*7+11954G= (n.*7+11954G=)
20g.34269073C>GCA408648474AHCY,ASIPc.305C>G (p.Pro102Arg)
c.317C>G (p.Pro106Arg)
c.*7+11954G>C (n.*7+11954G>C)
20g.34269073C>TCA408648473AHCY,ASIPc.305C>T (p.Pro102Leu)
c.317C>T (p.Pro106Leu)
c.*7+11954G>A (n.*7+11954G>A)
 dbSNP gnomAD v2 gnomAD v4
20g.34269074G>ACA510271196AHCY,ASIPc.306G>A (p.Pro102=)
c.318G>A (p.Pro106=)
c.*7+11953C>T (n.*7+11953C>T)
 gnomAD v4
20g.34269074G>CCA510271197AHCY,ASIPc.306G>C (p.Pro102=)
c.318G>C (p.Pro106=)
c.*7+11953C>G (n.*7+11953C>G)
 gnomAD v4
20g.34269074G>TCA510271198AHCY,ASIPc.306G>T (p.Pro102=)
c.318G>T (p.Pro106=)
c.*7+11953C>A (n.*7+11953C>A)
 gnomAD v4
20g.34269075C>ACA408648476AHCY,ASIPc.307C>A (p.Pro103Thr)
c.319C>A (p.Pro107Thr)
c.*7+11952G>T (n.*7+11952G>T)
20g.34269075C>GCA408648479AHCY,ASIPc.307C>G (p.Pro103Ala)
c.319C>G (p.Pro107Ala)
c.*7+11952G>C (n.*7+11952G>C)
20g.34269075C>TCA408648482AHCY,ASIPc.307C>T (p.Pro103Ser)
c.319C>T (p.Pro107Ser)
c.*7+11952G>A (n.*7+11952G>A)
 gnomAD v4
20g.34269076C>ACA408648490AHCY,ASIPc.308C>A (p.Pro103Gln)
c.320C>A (p.Pro107Gln)
c.*7+11951G>T (n.*7+11951G>T)
 gnomAD v4
20g.34269076C=CA2361127726AHCY,ASIPc.308C= (p.Pro103=)
c.320C= (p.Pro107=)
c.*7+11951G= (n.*7+11951G=)
20g.34269076C>GCA408648499AHCY,ASIPc.308C>G (p.Pro103Arg)
c.320C>G (p.Pro107Arg)
c.*7+11951G>C (n.*7+11951G>C)
20g.34269076C>TCA9820704AHCY,ASIPc.308C>T (p.Pro103Leu)
c.320C>T (p.Pro107Leu)
c.*7+11951G>A (n.*7+11951G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.34269077G>ACA510271199AHCY,ASIPc.309G>A (p.Pro103=)
c.321G>A (p.Pro107=)
c.*7+11950C>T (n.*7+11950C>T)
 dbSNP gnomAD v4
20g.34269077G>CCA510271201AHCY,ASIPc.309G>C (p.Pro103=)
c.321G>C (p.Pro107=)
c.*7+11950C>G (n.*7+11950C>G)
20g.34269077G=CA2361127727AHCY,ASIPc.309G= (p.Pro103=)
c.321G= (p.Pro107=)
c.*7+11950C= (n.*7+11950C=)
20g.34269077G>TCA510271200AHCY,ASIPc.309G>T (p.Pro103=)
c.321G>T (p.Pro107=)
c.*7+11950C>A (n.*7+11950C>A)
 gnomAD v4
20g.34269078G>ACA408648509AHCY,ASIPc.310G>A (p.Ala104Thr)
c.322G>A (p.Ala108Thr)
c.*7+11949C>T (n.*7+11949C>T)
 gnomAD v4
20g.34269078G>CCA408648511AHCY,ASIPc.310G>C (p.Ala104Pro)
c.322G>C (p.Ala108Pro)
c.*7+11949C>G (n.*7+11949C>G)
20g.34269078G>TCA408648514AHCY,ASIPc.310G>T (p.Ala104Ser)
c.322G>T (p.Ala108Ser)
c.*7+11949C>A (n.*7+11949C>A)
 gnomAD v4
20g.34269079C>ACA408648518AHCY,ASIPc.311C>A (p.Ala104Glu)
c.323C>A (p.Ala108Glu)
c.*7+11948G>T (n.*7+11948G>T)
 gnomAD v4
20g.34269079C>GCA408648521AHCY,ASIPc.311C>G (p.Ala104Gly)
c.323C>G (p.Ala108Gly)
c.*7+11948G>C (n.*7+11948G>C)
20g.34269079C>TCA408648522AHCY,ASIPc.311C>T (p.Ala104Val)
c.323C>T (p.Ala108Val)
c.*7+11948G>A (n.*7+11948G>A)
20g.34269080A=CA2361127728AHCY,ASIPc.312A= (p.Ala104=)
c.324A= (p.Ala108=)
c.*7+11947T= (n.*7+11947T=)
20g.34269080A>CCA510271202AHCY,ASIPc.312A>C (p.Ala104=)
c.324A>C (p.Ala108=)
c.*7+11947T>G (n.*7+11947T>G)
 dbSNP gnomAD v2 gnomAD v4
20g.34269080A>GCA313334634AHCY,ASIPc.312A>G (p.Ala104=)
c.324A>G (p.Ala108=)
c.*7+11947T>C (n.*7+11947T>C)
 dbSNP gnomAD v3 gnomAD v4
20g.34269080A>TCA510271203AHCY,ASIPc.312A>T (p.Ala104=)
c.324A>T (p.Ala108=)
c.*7+11947T>A (n.*7+11947T>A)
20g.34269081C>ACA9820705AHCY,ASIPc.313C>A (p.Pro105Thr)
c.325C>A (p.Pro109Thr)
c.*7+11946G>T (n.*7+11946G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.34269081C=CA2361127729AHCY,ASIPc.313C= (p.Pro105=)
c.325C= (p.Pro109=)
c.*7+11946G= (n.*7+11946G=)
20g.34269081C>GCA408648538AHCY,ASIPc.313C>G (p.Pro105Ala)
c.325C>G (p.Pro109Ala)
c.*7+11946G>C (n.*7+11946G>C)
20g.34269081C>TCA408648526AHCY,ASIPc.313C>T (p.Pro105Ser)
c.325C>T (p.Pro109Ser)
c.*7+11946G>A (n.*7+11946G>A)
 gnomAD v4
20g.34269082C>ACA408648542AHCY,ASIPc.314C>A (p.Pro105His)
c.326C>A (p.Pro109His)
c.*7+11945G>T (n.*7+11945G>T)
 dbSNP gnomAD v4
20g.34269082C>GCA408648544AHCY,ASIPc.314C>G (p.Pro105Arg)
c.326C>G (p.Pro109Arg)
c.*7+11945G>C (n.*7+11945G>C)
20g.34269082C>TCA408648549AHCY,ASIPc.314C>T (p.Pro105Leu)
c.326C>T (p.Pro109Leu)
c.*7+11945G>A (n.*7+11945G>A)
 gnomAD v4
20g.34269083C>ACA510271204AHCY,ASIPc.315C>A (p.Pro105=)
c.327C>A (p.Pro109=)
c.*7+11944G>T (n.*7+11944G>T)
 gnomAD v4
20g.34269083C=CA2361127730AHCY,ASIPc.315C= (p.Pro105=)
c.327C= (p.Pro109=)
c.*7+11944G= (n.*7+11944G=)
20g.34269083C>GCA510271205AHCY,ASIPc.315C>G (p.Pro105=)
c.327C>G (p.Pro109=)
c.*7+11944G>C (n.*7+11944G>C)
 dbSNP gnomAD v2 gnomAD v4
20g.34269083C>TCA510271206AHCY,ASIPc.315C>T (p.Pro105=)
c.327C>T (p.Pro109=)
c.*7+11944G>A (n.*7+11944G>A)
 gnomAD v4
20g.34269088_34269105dupCA2652532342AHCY,ASIPc.320_337dup (p.Ala112_Ser113insCysCysAspProCysAla)
c.332_349dup (p.Ala116_Ser117insCysCysAspProCysAla)
c.*7+11927_*7+11944dup (n.*7+11927_*7+11944dup)
 gnomAD v4
20g.34269084G>ACA408648552AHCY,ASIPc.316G>A (p.Ala106Thr)
c.328G>A (p.Ala110Thr)
c.*7+11943C>T (n.*7+11943C>T)
 dbSNP gnomAD v4
20g.34269084G>CCA408648555AHCY,ASIPc.316G>C (p.Ala106Pro)
c.328G>C (p.Ala110Pro)
c.*7+11943C>G (n.*7+11943C>G)
20g.34269084G=CA2361127731AHCY,ASIPc.316G= (p.Ala106=)
c.328G= (p.Ala110=)
c.*7+11943C= (n.*7+11943C=)
20g.34269084G>TCA408648558AHCY,ASIPc.316G>T (p.Ala106Ser)
c.328G>T (p.Ala110Ser)
c.*7+11943C>A (n.*7+11943C>A)
 gnomAD v4
20g.34269085C>ACA408648561AHCY,ASIPc.317C>A (p.Ala106Asp)
c.329C>A (p.Ala110Asp)
c.*7+11942G>T (n.*7+11942G>T)
 gnomAD v4
20g.34269085C>GCA408648562AHCY,ASIPc.317C>G (p.Ala106Gly)
c.329C>G (p.Ala110Gly)
c.*7+11942G>C (n.*7+11942G>C)
20g.34269085C>TCA408648563AHCY,ASIPc.317C>T (p.Ala106Val)
c.329C>T (p.Ala110Val)
c.*7+11942G>A (n.*7+11942G>A)
20g.34269086C>ACA510271209AHCY,ASIPc.318C>A (p.Ala106=)
c.330C>A (p.Ala110=)
c.*7+11941G>T (n.*7+11941G>T)
 gnomAD v4
20g.34269086C>GCA510271208AHCY,ASIPc.318C>G (p.Ala106=)
c.330C>G (p.Ala110=)
c.*7+11941G>C (n.*7+11941G>C)
20g.34269086C>TCA510271207AHCY,ASIPc.318C>T (p.Ala106=)
c.330C>T (p.Ala110=)
c.*7+11941G>A (n.*7+11941G>A)
20g.34269087T>ACA408648567AHCY,ASIPc.319T>A (p.Cys107Ser)
c.331T>A (p.Cys111Ser)
c.*7+11940A>T (n.*7+11940A>T)
 gnomAD v4
20g.34269087T>CCA408648569AHCY,ASIPc.319T>C (p.Cys107Arg)
c.331T>C (p.Cys111Arg)
c.*7+11940A>G (n.*7+11940A>G)
20g.34269087T>GCA408648564AHCY,ASIPc.319T>G (p.Cys107Gly)
c.331T>G (p.Cys111Gly)
c.*7+11940A>C (n.*7+11940A>C)
20g.34269088G>ACA408648573AHCY,ASIPc.320G>A (p.Cys107Tyr)
c.332G>A (p.Cys111Tyr)
c.*7+11939C>T (n.*7+11939C>T)
 dbSNP gnomAD v3 gnomAD v4
20g.34269088G>CCA408648575AHCY,ASIPc.320G>C (p.Cys107Ser)
c.332G>C (p.Cys111Ser)
c.*7+11939C>G (n.*7+11939C>G)
 gnomAD v4
20g.34269088G=CA2361127732AHCY,ASIPc.320G= (p.Cys107=)
c.332G= (p.Cys111=)
c.*7+11939C= (n.*7+11939C=)
20g.34269088G>TCA408648578AHCY,ASIPc.320G>T (p.Cys107Phe)
c.332G>T (p.Cys111Phe)
c.*7+11939C>A (n.*7+11939C>A)
 gnomAD v4
20g.34269089C>ACA408648582AHCY,ASIPc.321C>A (p.Cys107Ter)
c.333C>A (p.Cys111Ter)
c.*7+11938G>T (n.*7+11938G>T)
 gnomAD v4
20g.34269089C>GCA408648583AHCY,ASIPc.321C>G (p.Cys107Trp)
c.333C>G (p.Cys111Trp)
c.*7+11938G>C (n.*7+11938G>C)
20g.34269089C>TCA510271210AHCY,ASIPc.321C>T (p.Cys107=)
c.333C>T (p.Cys111=)
c.*7+11938G>A (n.*7+11938G>A)
 gnomAD v4
20g.34269090T>ACA408648591AHCY,ASIPc.322T>A (p.Cys108Ser)
c.334T>A (p.Cys112Ser)
c.*7+11937A>T (n.*7+11937A>T)
20g.34269090T>CCA408648585AHCY,ASIPc.322T>C (p.Cys108Arg)
c.334T>C (p.Cys112Arg)
c.*7+11937A>G (n.*7+11937A>G)
20g.34269090T>GCA408648588AHCY,ASIPc.322T>G (p.Cys108Gly)
c.334T>G (p.Cys112Gly)
c.*7+11937A>C (n.*7+11937A>C)
20g.34269091G>ACA408648595AHCY,ASIPc.323G>A (p.Cys108Tyr)
c.335G>A (p.Cys112Tyr)
c.*7+11936C>T (n.*7+11936C>T)
20g.34269091G>CCA408648603AHCY,ASIPc.323G>C (p.Cys108Ser)
c.335G>C (p.Cys112Ser)
c.*7+11936C>G (n.*7+11936C>G)
20g.34269091G>TCA408648607AHCY,ASIPc.323G>T (p.Cys108Phe)
c.335G>T (p.Cys112Phe)
c.*7+11936C>A (n.*7+11936C>A)
 gnomAD v4
20g.34269092C>ACA408648610AHCY,ASIPc.324C>A (p.Cys108Ter)
c.336C>A (p.Cys112Ter)
c.*7+11935G>T (n.*7+11935G>T)
 gnomAD v4
20g.34269092C>GCA408648613AHCY,ASIPc.324C>G (p.Cys108Trp)
c.336C>G (p.Cys112Trp)
c.*7+11935G>C (n.*7+11935G>C)
20g.34269092C>TCA510271211AHCY,ASIPc.324C>T (p.Cys108=)
c.336C>T (p.Cys112=)
c.*7+11935G>A (n.*7+11935G>A)
 gnomAD v4 COSMIC
20g.34269093G>ACA408648624AHCY,ASIPc.325G>A (p.Asp109Asn)
c.337G>A (p.Asp113Asn)
c.*7+11934C>T (n.*7+11934C>T)
 dbSNP gnomAD v4 COSMIC
20g.34269093G>CCA408648629AHCY,ASIPc.325G>C (p.Asp109His)
c.337G>C (p.Asp113His)
c.*7+11934C>G (n.*7+11934C>G)
 dbSNP gnomAD v3 gnomAD v4
20g.34269093G=CA2361127733AHCY,ASIPc.325G= (p.Asp109=)
c.337G= (p.Asp113=)
c.*7+11934C= (n.*7+11934C=)
20g.34269093G>TCA408648627AHCY,ASIPc.325G>T (p.Asp109Tyr)
c.337G>T (p.Asp113Tyr)
c.*7+11934C>A (n.*7+11934C>A)
 gnomAD v4
20g.34269094A>CCA408648633AHCY,ASIPc.326A>C (p.Asp109Ala)
c.338A>C (p.Asp113Ala)
c.*7+11933T>G (n.*7+11933T>G)
 gnomAD v4
20g.34269094A>GCA408648639AHCY,ASIPc.326A>G (p.Asp109Gly)
c.338A>G (p.Asp113Gly)
c.*7+11933T>C (n.*7+11933T>C)
20g.34269094A>TCA408648641AHCY,ASIPc.326A>T (p.Asp109Val)
c.338A>T (p.Asp113Val)
c.*7+11933T>A (n.*7+11933T>A)
20g.34269095C>ACA313334655AHCY,ASIPc.327C>A (p.Asp109Glu)
c.339C>A (p.Asp113Glu)
c.*7+11932G>T (n.*7+11932G>T)
 dbSNP gnomAD v2 gnomAD v4
20g.34269095C=CA2361127734AHCY,ASIPc.327C= (p.Asp109=)
c.339C= (p.Asp113=)
c.*7+11932G= (n.*7+11932G=)
20g.34269095C>GCA408648651AHCY,ASIPc.327C>G (p.Asp109Glu)
c.339C>G (p.Asp113Glu)
c.*7+11932G>C (n.*7+11932G>C)
 gnomAD v4
20g.34269095C>TCA510271212AHCY,ASIPc.327C>T (p.Asp109=)
c.339C>T (p.Asp113=)
c.*7+11932G>A (n.*7+11932G>A)
20g.34269096C>ACA408648656AHCY,ASIPc.328C>A (p.Pro110Thr)
c.340C>A (p.Pro114Thr)
c.*7+11931G>T (n.*7+11931G>T)
 dbSNP gnomAD v2 gnomAD v4
20g.34269096C=CA2361127735AHCY,ASIPc.328C= (p.Pro110=)
c.340C= (p.Pro114=)
c.*7+11931G= (n.*7+11931G=)
20g.34269096C>GCA408648658AHCY,ASIPc.328C>G (p.Pro110Ala)
c.340C>G (p.Pro114Ala)
c.*7+11931G>C (n.*7+11931G>C)
20g.34269096C>TCA408648660AHCY,ASIPc.328C>T (p.Pro110Ser)
c.340C>T (p.Pro114Ser)
c.*7+11931G>A (n.*7+11931G>A)
20g.34269097C>ACA408648664AHCY,ASIPc.329C>A (p.Pro110Gln)
c.341C>A (p.Pro114Gln)
c.*7+11930G>T (n.*7+11930G>T)
 gnomAD v4
20g.34269097C>GCA408648667AHCY,ASIPc.329C>G (p.Pro110Arg)
c.341C>G (p.Pro114Arg)
c.*7+11930G>C (n.*7+11930G>C)
20g.34269097C>TCA408648671AHCY,ASIPc.329C>T (p.Pro110Leu)
c.341C>T (p.Pro114Leu)
c.*7+11930G>A (n.*7+11930G>A)
 gnomAD v4
20g.34269098G>ACA9820706AHCY,ASIPc.330G>A (p.Pro110=)
c.342G>A (p.Pro114=)
c.*7+11929C>T (n.*7+11929C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.34269098G>CCA510271213AHCY,ASIPc.330G>C (p.Pro110=)
c.342G>C (p.Pro114=)
c.*7+11929C>G (n.*7+11929C>G)
20g.34269098G=CA2361127736AHCY,ASIPc.330G= (p.Pro110=)
c.342G= (p.Pro114=)
c.*7+11929C= (n.*7+11929C=)
20g.34269098G>TCA510271214AHCY,ASIPc.330G>T (p.Pro110=)
c.342G>T (p.Pro114=)
c.*7+11929C>A (n.*7+11929C>A)
20g.34269099T>ACA408648684AHCY,ASIPc.331T>A (p.Cys111Ser)
c.343T>A (p.Cys115Ser)
c.*7+11928A>T (n.*7+11928A>T)
20g.34269099T>CCA408648681AHCY,ASIPc.331T>C (p.Cys111Arg)
c.343T>C (p.Cys115Arg)
c.*7+11928A>G (n.*7+11928A>G)
 gnomAD v4
20g.34269099T>GCA408648678AHCY,ASIPc.331T>G (p.Cys111Gly)
c.343T>G (p.Cys115Gly)
c.*7+11928A>C (n.*7+11928A>C)
 gnomAD v4
20g.34269102_34269110dupCA2652532343AHCY,ASIPc.334_342dup (p.Cys114_Gln115insAlaSerCys)
c.346_354dup (p.Cys118_Gln119insAlaSerCys)
c.*7+11920_*7+11928dup (n.*7+11920_*7+11928dup)
 gnomAD v4
20g.34269100G>ACA9820707AHCY,ASIPc.332G>A (p.Cys111Tyr)
c.344G>A (p.Cys115Tyr)
c.*7+11927C>T (n.*7+11927C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.34269100G>CCA408648686AHCY,ASIPc.332G>C (p.Cys111Ser)
c.344G>C (p.Cys115Ser)
c.*7+11927C>G (n.*7+11927C>G)
20g.34269100G=CA2361127738AHCY,ASIPc.332G= (p.Cys111=)
c.344G= (p.Cys115=)
c.*7+11927C= (n.*7+11927C=)
20g.34269100G>TCA408648691AHCY,ASIPc.332G>T (p.Cys111Phe)
c.344G>T (p.Cys115Phe)
c.*7+11927C>A (n.*7+11927C>A)
20g.34269100dupCA2591922972AHCY,ASIPc.332dup (p.Cys111TrpfsTer?)
c.344dup (p.Cys115TrpfsTer?)
c.*7+11927dup (n.*7+11927dup)
 gnomAD v3 gnomAD v4
20g.34269100_34269125delinsGCGCCTCCTGCCAGTGCCGCTTCTTCCA2361127737AHCY,ASIPc.332_357delinsGCGCCTCCTGCCAGTGCCGCTTCTTC (p.Cys111=)
c.344_369delinsGCGCCTCCTGCCAGTGCCGCTTCTTC (p.Cys115=)
c.*7+11902_*7+11927delinsGAAGAAGCGGCACTGGCAGGAGGCGC (n.*7+11902_*7+11927delinsGAAGAAGCGGCACTGGCAGGAGGCGC)
20g.34269101C>ACA408648695AHCY,ASIPc.333C>A (p.Cys111Ter)
c.345C>A (p.Cys115Ter)
c.*7+11926G>T (n.*7+11926G>T)
 gnomAD v4
20g.34269101C>GCA408648697AHCY,ASIPc.333C>G (p.Cys111Trp)
c.345C>G (p.Cys115Trp)
c.*7+11926G>C (n.*7+11926G>C)
20g.34269101C>TCA510271215AHCY,ASIPc.333C>T (p.Cys111=)
c.345C>T (p.Cys115=)
c.*7+11926G>A (n.*7+11926G>A)
 gnomAD v4
20g.34269104_34269128delCA9820708AHCY,ASIPc.336_360del (p.Ser113AlafsTer?)
c.348_372del (p.Ser117AlafsTer?)
c.*7+11902_*7+11926del (n.*7+11902_*7+11926del)
 dbSNP ExAC gnomAD v2
20g.34269102G>ACA408648724AHCY,ASIPc.334G>A (p.Ala112Thr)
c.346G>A (p.Ala116Thr)
c.*7+11925C>T (n.*7+11925C>T)
 gnomAD v4
20g.34269102G>CCA408648726AHCY,ASIPc.334G>C (p.Ala112Pro)
c.346G>C (p.Ala116Pro)
c.*7+11925C>G (n.*7+11925C>G)
20g.34269102G>TCA408648728AHCY,ASIPc.334G>T (p.Ala112Ser)
c.346G>T (p.Ala116Ser)
c.*7+11925C>A (n.*7+11925C>A)
 gnomAD v4
20g.34269103C>ACA408648732AHCY,ASIPc.335C>A (p.Ala112Asp)
c.347C>A (p.Ala116Asp)
c.*7+11924G>T (n.*7+11924G>T)
 dbSNP
20g.34269103C=CA2361127739AHCY,ASIPc.335C= (p.Ala112=)
c.347C= (p.Ala116=)
c.*7+11924G= (n.*7+11924G=)
20g.34269103C>GCA408648734AHCY,ASIPc.335C>G (p.Ala112Gly)
c.347C>G (p.Ala116Gly)
c.*7+11924G>C (n.*7+11924G>C)
20g.34269103C>TCA408648737AHCY,ASIPc.335C>T (p.Ala112Val)
c.347C>T (p.Ala116Val)
c.*7+11924G>A (n.*7+11924G>A)
 dbSNP gnomAD v2 gnomAD v4
20g.34269104C>ACA510271216AHCY,ASIPc.336C>A (p.Ala112=)
c.348C>A (p.Ala116=)
c.*7+11923G>T (n.*7+11923G>T)
20g.34269104C=CA2361127740AHCY,ASIPc.336C= (p.Ala112=)
c.348C= (p.Ala116=)
c.*7+11923G= (n.*7+11923G=)
20g.34269104C>GCA510271217AHCY,ASIPc.336C>G (p.Ala112=)
c.348C>G (p.Ala116=)
c.*7+11923G>C (n.*7+11923G>C)
 gnomAD v4
20g.34269104C>TCA510271218AHCY,ASIPc.336C>T (p.Ala112=)
c.348C>T (p.Ala116=)
c.*7+11923G>A (n.*7+11923G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34269105T>ACA408648740AHCY,ASIPc.337T>A (p.Ser113Thr)
c.349T>A (p.Ser117Thr)
c.*7+11922A>T (n.*7+11922A>T)
20g.34269105T>CCA408648741AHCY,ASIPc.337T>C (p.Ser113Pro)
c.349T>C (p.Ser117Pro)
c.*7+11922A>G (n.*7+11922A>G)
 dbSNP gnomAD v2 gnomAD v4
20g.34269105T>GCA408648742AHCY,ASIPc.337T>G (p.Ser113Ala)
c.349T>G (p.Ser117Ala)
c.*7+11922A>C (n.*7+11922A>C)
20g.34269105T=CA2361127741AHCY,ASIPc.337T= (p.Ser113=)
c.349T= (p.Ser117=)
c.*7+11922A= (n.*7+11922A=)
20g.34269106C>ACA408648745AHCY,ASIPc.338C>A (p.Ser113Tyr)
c.350C>A (p.Ser117Tyr)
c.*7+11921G>T (n.*7+11921G>T)
 gnomAD v4
20g.34269106C>GCA408648743AHCY,ASIPc.338C>G (p.Ser113Cys)
c.350C>G (p.Ser117Cys)
c.*7+11921G>C (n.*7+11921G>C)
20g.34269106C>TCA408648744AHCY,ASIPc.338C>T (p.Ser113Phe)
c.350C>T (p.Ser117Phe)
c.*7+11921G>A (n.*7+11921G>A)
20g.34269107C>ACA510271219AHCY,ASIPc.339C>A (p.Ser113=)
c.351C>A (p.Ser117=)
c.*7+11920G>T (n.*7+11920G>T)
 gnomAD v4
20g.34269107C>GCA510271220AHCY,ASIPc.339C>G (p.Ser113=)
c.351C>G (p.Ser117=)
c.*7+11920G>C (n.*7+11920G>C)
20g.34269107C>TCA510271221AHCY,ASIPc.339C>T (p.Ser113=)
c.351C>T (p.Ser117=)
c.*7+11920G>A (n.*7+11920G>A)
 gnomAD v4
20g.34269108T>ACA408648746AHCY,ASIPc.340T>A (p.Cys114Ser)
c.352T>A (p.Cys118Ser)
c.*7+11919A>T (n.*7+11919A>T)
20g.34269108T>CCA408648748AHCY,ASIPc.340T>C (p.Cys114Arg)
c.352T>C (p.Cys118Arg)
c.*7+11919A>G (n.*7+11919A>G)
 gnomAD v4
20g.34269108T>GCA408648751AHCY,ASIPc.340T>G (p.Cys114Gly)
c.352T>G (p.Cys118Gly)
c.*7+11919A>C (n.*7+11919A>C)
20g.34269109G>ACA408648754AHCY,ASIPc.341G>A (p.Cys114Tyr)
c.353G>A (p.Cys118Tyr)
c.*7+11918C>T (n.*7+11918C>T)
 gnomAD v4
20g.34269109G>CCA408648759AHCY,ASIPc.341G>C (p.Cys114Ser)
c.353G>C (p.Cys118Ser)
c.*7+11918C>G (n.*7+11918C>G)
20g.34269109G>TCA408648765AHCY,ASIPc.341G>T (p.Cys114Phe)
c.353G>T (p.Cys118Phe)
c.*7+11918C>A (n.*7+11918C>A)
20g.34269110C>ACA408648767AHCY,ASIPc.342C>A (p.Cys114Ter)
c.354C>A (p.Cys118Ter)
c.*7+11917G>T (n.*7+11917G>T)
 dbSNP gnomAD v2 gnomAD v4
20g.34269110C=CA2361127742AHCY,ASIPc.342C= (p.Cys114=)
c.354C= (p.Cys118=)
c.*7+11917G= (n.*7+11917G=)
20g.34269110C>GCA408648770AHCY,ASIPc.342C>G (p.Cys114Trp)
c.354C>G (p.Cys118Trp)
c.*7+11917G>C (n.*7+11917G>C)
20g.34269110C>TCA510271222AHCY,ASIPc.342C>T (p.Cys114=)
c.354C>T (p.Cys118=)
c.*7+11917G>A (n.*7+11917G>A)
 gnomAD v4
20g.34269111C>ACA408648774AHCY,ASIPc.343C>A (p.Gln115Lys)
c.355C>A (p.Gln119Lys)
c.*7+11916G>T (n.*7+11916G>T)
20g.34269111C>GCA408648776AHCY,ASIPc.343C>G (p.Gln115Glu)
c.355C>G (p.Gln119Glu)
c.*7+11916G>C (n.*7+11916G>C)
20g.34269111C>TCA408648779AHCY,ASIPc.343C>T (p.Gln115Ter)
c.355C>T (p.Gln119Ter)
c.*7+11916G>A (n.*7+11916G>A)
 gnomAD v4
20g.34269112A>CCA408648781AHCY,ASIPc.344A>C (p.Gln115Pro)
c.356A>C (p.Gln119Pro)
c.*7+11915T>G (n.*7+11915T>G)
20g.34269112A>GCA408648782AHCY,ASIPc.344A>G (p.Gln115Arg)
c.356A>G (p.Gln119Arg)
c.*7+11915T>C (n.*7+11915T>C)
20g.34269112A>TCA408648780AHCY,ASIPc.344A>T (p.Gln115Leu)
c.356A>T (p.Gln119Leu)
c.*7+11915T>A (n.*7+11915T>A)
20g.34269113G>ACA510271223AHCY,ASIPc.345G>A (p.Gln115=)
c.357G>A (p.Gln119=)
c.*7+11914C>T (n.*7+11914C>T)
20g.34269113G>CCA408648786AHCY,ASIPc.345G>C (p.Gln115His)
c.357G>C (p.Gln119His)
c.*7+11914C>G (n.*7+11914C>G)
20g.34269113G>TCA408648789AHCY,ASIPc.345G>T (p.Gln115His)
c.357G>T (p.Gln119His)
c.*7+11914C>A (n.*7+11914C>A)
20g.34269114T>ACA408648792AHCY,ASIPc.346T>A (p.Cys116Ser)
c.358T>A (p.Cys120Ser)
c.*7+11913A>T (n.*7+11913A>T)
20g.34269114T>CCA313334681AHCY,ASIPc.346T>C (p.Cys116Arg)
c.358T>C (p.Cys120Arg)
c.*7+11913A>G (n.*7+11913A>G)
 dbSNP gnomAD v2 gnomAD v4
20g.34269114T>GCA408648798AHCY,ASIPc.346T>G (p.Cys116Gly)
c.358T>G (p.Cys120Gly)
c.*7+11913A>C (n.*7+11913A>C)
20g.34269114T=CA2361127743AHCY,ASIPc.346T= (p.Cys116=)
c.358T= (p.Cys120=)
c.*7+11913A= (n.*7+11913A=)
20g.34269115G>ACA408648803AHCY,ASIPc.347G>A (p.Cys116Tyr)
c.359G>A (p.Cys120Tyr)
c.*7+11912C>T (n.*7+11912C>T)
 gnomAD v4
20g.34269115G>CCA408648807AHCY,ASIPc.347G>C (p.Cys116Ser)
c.359G>C (p.Cys120Ser)
c.*7+11912C>G (n.*7+11912C>G)
 gnomAD v4
20g.34269115G>TCA408648809AHCY,ASIPc.347G>T (p.Cys116Phe)
c.359G>T (p.Cys120Phe)
c.*7+11912C>A (n.*7+11912C>A)
 gnomAD v4
20g.34269116C>ACA408648814AHCY,ASIPc.348C>A (p.Cys116Ter)
c.360C>A (p.Cys120Ter)
c.*7+11911G>T (n.*7+11911G>T)
 gnomAD v4
20g.34269116C=CA2361127744AHCY,ASIPc.348C= (p.Cys116=)
c.360C= (p.Cys120=)
c.*7+11911G= (n.*7+11911G=)
20g.34269116C>GCA408648817AHCY,ASIPc.348C>G (p.Cys116Trp)
c.360C>G (p.Cys120Trp)
c.*7+11911G>C (n.*7+11911G>C)
20g.34269116C>TCA510271224AHCY,ASIPc.348C>T (p.Cys116=)
c.360C>T (p.Cys120=)
c.*7+11911G>A (n.*7+11911G>A)
 dbSNP gnomAD v4
20g.34269117C>ACA408648820AHCY,ASIPc.349C>A (p.Arg117Ser)
c.361C>A (p.Arg121Ser)
c.*7+11910G>T (n.*7+11910G>T)
 gnomAD v4
20g.34269117C=CA2361127745AHCY,ASIPc.349C= (p.Arg117=)
c.361C= (p.Arg121=)
c.*7+11910G= (n.*7+11910G=)
20g.34269117C>GCA408648823AHCY,ASIPc.349C>G (p.Arg117Gly)
c.361C>G (p.Arg121Gly)
c.*7+11910G>C (n.*7+11910G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34269117C>TCA313334698AHCY,ASIPc.349C>T (p.Arg117Cys)
c.361C>T (p.Arg121Cys)
c.*7+11910G>A (n.*7+11910G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34269118G>ACA408648833AHCY,ASIPc.350G>A (p.Arg117His)
c.362G>A (p.Arg121His)
c.*7+11909C>T (n.*7+11909C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34269118G>CCA408648830AHCY,ASIPc.350G>C (p.Arg117Pro)
c.362G>C (p.Arg121Pro)
c.*7+11909C>G (n.*7+11909C>G)
20g.34269118G=CA2361127746AHCY,ASIPc.350G= (p.Arg117=)
c.362G= (p.Arg121=)
c.*7+11909C= (n.*7+11909C=)
20g.34269118G>TCA313334702AHCY,ASIPc.350G>T (p.Arg117Leu)
c.362G>T (p.Arg121Leu)
c.*7+11909C>A (n.*7+11909C>A)
 dbSNP
20g.34269119C>ACA510271225AHCY,ASIPc.351C>A (p.Arg117=)
c.363C>A (p.Arg121=)
c.*7+11908G>T (n.*7+11908G>T)
20g.34269119C=CA2361127747AHCY,ASIPc.351C= (p.Arg117=)
c.363C= (p.Arg121=)
c.*7+11908G= (n.*7+11908G=)
20g.34269119C>GCA510271227AHCY,ASIPc.351C>G (p.Arg117=)
c.363C>G (p.Arg121=)
c.*7+11908G>C (n.*7+11908G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34269119C>TCA510271226AHCY,ASIPc.351C>T (p.Arg117=)
c.363C>T (p.Arg121=)
c.*7+11908G>A (n.*7+11908G>A)
 gnomAD v4
20g.34269120T>ACA408648836AHCY,ASIPc.352T>A (p.Phe118Ile)
c.364T>A (p.Phe122Ile)
c.*7+11907A>T (n.*7+11907A>T)
20g.34269120T>CCA408648840AHCY,ASIPc.352T>C (p.Phe118Leu)
c.364T>C (p.Phe122Leu)
c.*7+11907A>G (n.*7+11907A>G)
20g.34269120T>GCA408648844AHCY,ASIPc.352T>G (p.Phe118Val)
c.364T>G (p.Phe122Val)
c.*7+11907A>C (n.*7+11907A>C)
20g.34269121T>ACA9820709AHCY,ASIPc.353T>A (p.Phe118Tyr)
c.365T>A (p.Phe122Tyr)
c.*7+11906A>T (n.*7+11906A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.34269121T>CCA408648850AHCY,ASIPc.353T>C (p.Phe118Ser)
c.365T>C (p.Phe122Ser)
c.*7+11906A>G (n.*7+11906A>G)
20g.34269121T>GCA408648853AHCY,ASIPc.353T>G (p.Phe118Cys)
c.365T>G (p.Phe122Cys)
c.*7+11906A>C (n.*7+11906A>C)
20g.34269121T=CA2361127748AHCY,ASIPc.353T= (p.Phe118=)
c.365T= (p.Phe122=)
c.*7+11906A= (n.*7+11906A=)
20g.34269122C>ACA313334711AHCY,ASIPc.354C>A (p.Phe118Leu)
c.366C>A (p.Phe122Leu)
c.*7+11905G>T (n.*7+11905G>T)
 dbSNP gnomAD v2 gnomAD v4
20g.34269122C=CA2361127749AHCY,ASIPc.354C= (p.Phe118=)
c.366C= (p.Phe122=)
c.*7+11905G= (n.*7+11905G=)
20g.34269122C>GCA408648856AHCY,ASIPc.354C>G (p.Phe118Leu)
c.366C>G (p.Phe122Leu)
c.*7+11905G>C (n.*7+11905G>C)
20g.34269122C>TCA510271228AHCY,ASIPc.354C>T (p.Phe118=)
c.366C>T (p.Phe122=)
c.*7+11905G>A (n.*7+11905G>A)
 gnomAD v4
20g.34269123T>ACA408648859AHCY,ASIPc.355T>A (p.Phe119Ile)
c.367T>A (p.Phe123Ile)
c.*7+11904A>T (n.*7+11904A>T)
20g.34269123T>CCA408648861AHCY,ASIPc.355T>C (p.Phe119Leu)
c.367T>C (p.Phe123Leu)
c.*7+11904A>G (n.*7+11904A>G)
 dbSNP gnomAD v2 gnomAD v4
20g.34269123T>GCA408648865AHCY,ASIPc.355T>G (p.Phe119Val)
c.367T>G (p.Phe123Val)
c.*7+11904A>C (n.*7+11904A>C)
20g.34269123T=CA2361127750AHCY,ASIPc.355T= (p.Phe119=)
c.367T= (p.Phe123=)
c.*7+11904A= (n.*7+11904A=)
20g.34269124T>ACA408648867AHCY,ASIPc.356T>A (p.Phe119Tyr)
c.368T>A (p.Phe123Tyr)
c.*7+11903A>T (n.*7+11903A>T)
20g.34269124T>CCA408648871AHCY,ASIPc.356T>C (p.Phe119Ser)
c.368T>C (p.Phe123Ser)
c.*7+11903A>G (n.*7+11903A>G)
 gnomAD v4
20g.34269124T>GCA408648878AHCY,ASIPc.356T>G (p.Phe119Cys)
c.368T>G (p.Phe123Cys)
c.*7+11903A>C (n.*7+11903A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34269124T=CA2361127751AHCY,ASIPc.356T= (p.Phe119=)
c.368T= (p.Phe123=)
c.*7+11903A= (n.*7+11903A=)
20g.34269125C>ACA408648886AHCY,ASIPc.357C>A (p.Phe119Leu)
c.369C>A (p.Phe123Leu)
c.*7+11902G>T (n.*7+11902G>T)
 gnomAD v4
20g.34269125C=CA2361127753AHCY,ASIPc.357C= (p.Phe119=)
c.369C= (p.Phe123=)
c.*7+11902G= (n.*7+11902G=)
20g.34269125C>GCA408648890AHCY,ASIPc.357C>G (p.Phe119Leu)
c.369C>G (p.Phe123Leu)
c.*7+11902G>C (n.*7+11902G>C)
20g.34269125C>TCA9820710AHCY,ASIPc.357C>T (p.Phe119=)
c.369C>T (p.Phe123=)
c.*7+11902G>A (n.*7+11902G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.34269129_34269146dupCA2361127752AHCY,ASIPc.361_378dup (p.Arg126_Val127insSerAlaCysSerCysArg)
c.373_390dup (p.Arg130_Val131insSerAlaCysSerCysArg)
c.*7+11885_*7+11902dup (n.*7+11885_*7+11902dup)
 dbSNP gnomAD v4
20g.34269126C>ACA408648894AHCY,ASIPc.358C>A (p.Arg120Ser)
c.370C>A (p.Arg124Ser)
c.*7+11901G>T (n.*7+11901G>T)
 gnomAD v4
20g.34269126C>GCA408648902AHCY,ASIPc.358C>G (p.Arg120Gly)
c.370C>G (p.Arg124Gly)
c.*7+11901G>C (n.*7+11901G>C)
20g.34269126C>TCA408648898AHCY,ASIPc.358C>T (p.Arg120Cys)
c.370C>T (p.Arg124Cys)
c.*7+11901G>A (n.*7+11901G>A)
20g.34269127G>ACA408648907AHCY,ASIPc.359G>A (p.Arg120His)
c.371G>A (p.Arg124His)
c.*7+11900C>T (n.*7+11900C>T)
 gnomAD v4
20g.34269127G>CCA408648913AHCY,ASIPc.359G>C (p.Arg120Pro)
c.371G>C (p.Arg124Pro)
c.*7+11900C>G (n.*7+11900C>G)
20g.34269127G>TCA408648910AHCY,ASIPc.359G>T (p.Arg120Leu)
c.371G>T (p.Arg124Leu)
c.*7+11900C>A (n.*7+11900C>A)
 gnomAD v4
20g.34269128C>ACA510271229AHCY,ASIPc.360C>A (p.Arg120=)
c.372C>A (p.Arg124=)
c.*7+11899G>T (n.*7+11899G>T)
 gnomAD v4
20g.34269128C>GCA510271230AHCY,ASIPc.360C>G (p.Arg120=)
c.372C>G (p.Arg124=)
c.*7+11899G>C (n.*7+11899G>C)
20g.34269128C>TCA510271231AHCY,ASIPc.360C>T (p.Arg120=)
c.372C>T (p.Arg124=)
c.*7+11899G>A (n.*7+11899G>A)
20g.34269129A>CCA408648915AHCY,ASIPc.361A>C (p.Ser121Arg)
c.373A>C (p.Ser125Arg)
c.*7+11898T>G (n.*7+11898T>G)
20g.34269129A>GCA408648920AHCY,ASIPc.361A>G (p.Ser121Gly)
c.373A>G (p.Ser125Gly)
c.*7+11898T>C (n.*7+11898T>C)
 gnomAD v4
20g.34269129A>TCA408648923AHCY,ASIPc.361A>T (p.Ser121Cys)
c.373A>T (p.Ser125Cys)
c.*7+11898T>A (n.*7+11898T>A)
20g.34269130G>ACA408648925AHCY,ASIPc.362G>A (p.Ser121Asn)
c.374G>A (p.Ser125Asn)
c.*7+11897C>T (n.*7+11897C>T)
20g.34269130G>CCA408648930AHCY,ASIPc.362G>C (p.Ser121Thr)
c.374G>C (p.Ser125Thr)
c.*7+11897C>G (n.*7+11897C>G)
20g.34269130G=CA2361127754AHCY,ASIPc.362G= (p.Ser121=)
c.374G= (p.Ser125=)
c.*7+11897C= (n.*7+11897C=)
20g.34269130G>TCA408648934AHCY,ASIPc.362G>T (p.Ser121Ile)
c.374G>T (p.Ser125Ile)
c.*7+11897C>A (n.*7+11897C>A)
 dbSNP gnomAD v2 gnomAD v4
20g.34269131C>ACA408648939AHCY,ASIPc.363C>A (p.Ser121Arg)
c.375C>A (p.Ser125Arg)
c.*7+11896G>T (n.*7+11896G>T)
 gnomAD v4
20g.34269131C>GCA408648942AHCY,ASIPc.363C>G (p.Ser121Arg)
c.375C>G (p.Ser125Arg)
c.*7+11896G>C (n.*7+11896G>C)
 gnomAD v4
20g.34269131C>TCA510271232AHCY,ASIPc.363C>T (p.Ser121=)
c.375C>T (p.Ser125=)
c.*7+11896G>A (n.*7+11896G>A)
 gnomAD v4
20g.34269132G>ACA408648946AHCY,ASIPc.364G>A (p.Ala122Thr)
c.376G>A (p.Ala126Thr)
c.*7+11895C>T (n.*7+11895C>T)
 gnomAD v4
20g.34269132G>CCA408648948AHCY,ASIPc.364G>C (p.Ala122Pro)
c.376G>C (p.Ala126Pro)
c.*7+11895C>G (n.*7+11895C>G)
20g.34269132G>TCA408648951AHCY,ASIPc.364G>T (p.Ala122Ser)
c.376G>T (p.Ala126Ser)
c.*7+11895C>A (n.*7+11895C>A)
20g.34269133C>ACA408648958AHCY,ASIPc.365C>A (p.Ala122Asp)
c.377C>A (p.Ala126Asp)
c.*7+11894G>T (n.*7+11894G>T)
20g.34269133C=CA2361127755AHCY,ASIPc.365C= (p.Ala122=)
c.377C= (p.Ala126=)
c.*7+11894G= (n.*7+11894G=)
20g.34269133C>GCA408648954AHCY,ASIPc.365C>G (p.Ala122Gly)
c.377C>G (p.Ala126Gly)
c.*7+11894G>C (n.*7+11894G>C)
20g.34269133C>TCA408648952AHCY,ASIPc.365C>T (p.Ala122Val)
c.377C>T (p.Ala126Val)
c.*7+11894G>A (n.*7+11894G>A)
 dbSNP gnomAD v2 gnomAD v4
20g.34269134C>ACA510271233AHCY,ASIPc.366C>A (p.Ala122=)
c.378C>A (p.Ala126=)
c.*7+11893G>T (n.*7+11893G>T)
20g.34269134C=CA2361127756AHCY,ASIPc.366C= (p.Ala122=)
c.378C= (p.Ala126=)
c.*7+11893G= (n.*7+11893G=)
20g.34269134C>GCA510271234AHCY,ASIPc.366C>G (p.Ala122=)
c.378C>G (p.Ala126=)
c.*7+11893G>C (n.*7+11893G>C)
20g.34269134C>TCA510271235AHCY,ASIPc.366C>T (p.Ala122=)
c.378C>T (p.Ala126=)
c.*7+11893G>A (n.*7+11893G>A)
 dbSNP gnomAD v2
20g.34269135T>ACA408648963AHCY,ASIPc.367T>A (p.Cys123Ser)
c.379T>A (p.Cys127Ser)
c.*7+11892A>T (n.*7+11892A>T)
20g.34269135T>CCA408648964AHCY,ASIPc.367T>C (p.Cys123Arg)
c.379T>C (p.Cys127Arg)
c.*7+11892A>G (n.*7+11892A>G)
 gnomAD v4
20g.34269135T>GCA408648967AHCY,ASIPc.367T>G (p.Cys123Gly)
c.379T>G (p.Cys127Gly)
c.*7+11892A>C (n.*7+11892A>C)
20g.34269136G>ACA9820711AHCY,ASIPc.368G>A (p.Cys123Tyr)
c.380G>A (p.Cys127Tyr)
c.*7+11891C>T (n.*7+11891C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.34269136G>CCA408648973AHCY,ASIPc.368G>C (p.Cys123Ser)
c.380G>C (p.Cys127Ser)
c.*7+11891C>G (n.*7+11891C>G)
20g.34269136G=CA2361127757AHCY,ASIPc.368G= (p.Cys123=)
c.380G= (p.Cys127=)
c.*7+11891C= (n.*7+11891C=)
20g.34269136G>TCA408648976AHCY,ASIPc.368G>T (p.Cys123Phe)
c.380G>T (p.Cys127Phe)
c.*7+11891C>A (n.*7+11891C>A)
 dbSNP gnomAD v3 gnomAD v4
20g.34269137C>ACA408648984AHCY,ASIPc.369C>A (p.Cys123Ter)
c.381C>A (p.Cys127Ter)
c.*7+11890G>T (n.*7+11890G>T)
 gnomAD v4
20g.34269137C=CA2361127758AHCY,ASIPc.369C= (p.Cys123=)
c.381C= (p.Cys127=)
c.*7+11890G= (n.*7+11890G=)
20g.34269137C>GCA408648987AHCY,ASIPc.369C>G (p.Cys123Trp)
c.381C>G (p.Cys127Trp)
c.*7+11890G>C (n.*7+11890G>C)
20g.34269137C>TCA510271236AHCY,ASIPc.369C>T (p.Cys123=)
c.381C>T (p.Cys127=)
c.*7+11890G>A (n.*7+11890G>A)
 dbSNP gnomAD v2 gnomAD v4
20g.34269138T>ACA408648990AHCY,ASIPc.370T>A (p.Ser124Thr)
c.382T>A (p.Ser128Thr)
c.*7+11889A>T (n.*7+11889A>T)
 gnomAD v4
20g.34269138T>CCA408648993AHCY,ASIPc.370T>C (p.Ser124Pro)
c.382T>C (p.Ser128Pro)
c.*7+11889A>G (n.*7+11889A>G)
 gnomAD v4
20g.34269138T>GCA408648995AHCY,ASIPc.370T>G (p.Ser124Ala)
c.382T>G (p.Ser128Ala)
c.*7+11889A>C (n.*7+11889A>C)
20g.34269139C>ACA408649005AHCY,ASIPc.371C>A (p.Ser124Tyr)
c.383C>A (p.Ser128Tyr)
c.*7+11888G>T (n.*7+11888G>T)
 dbSNP gnomAD v2 gnomAD v4
20g.34269139C=CA2361127759AHCY,ASIPc.371C= (p.Ser124=)
c.383C= (p.Ser128=)
c.*7+11888G= (n.*7+11888G=)
20g.34269139C>GCA408649002AHCY,ASIPc.371C>G (p.Ser124Cys)
c.383C>G (p.Ser128Cys)
c.*7+11888G>C (n.*7+11888G>C)
20g.34269139C>TCA408649000AHCY,ASIPc.371C>T (p.Ser124Phe)
c.383C>T (p.Ser128Phe)
c.*7+11888G>A (n.*7+11888G>A)
 dbSNP gnomAD v4
20g.34269140C>ACA510271237AHCY,ASIPc.372C>A (p.Ser124=)
c.384C>A (p.Ser128=)
c.*7+11887G>T (n.*7+11887G>T)
 dbSNP gnomAD v3 gnomAD v4
20g.34269140C=CA2361127760AHCY,ASIPc.372C= (p.Ser124=)
c.384C= (p.Ser128=)
c.*7+11887G= (n.*7+11887G=)
20g.34269140C>GCA510271239AHCY,ASIPc.372C>G (p.Ser124=)
c.384C>G (p.Ser128=)
c.*7+11887G>C (n.*7+11887G>C)
20g.34269140C>TCA510271238AHCY,ASIPc.372C>T (p.Ser124=)
c.384C>T (p.Ser128=)
c.*7+11887G>A (n.*7+11887G>A)
20g.34269141T>ACA408649010AHCY,ASIPc.373T>A (p.Cys125Ser)
c.385T>A (p.Cys129Ser)
c.*7+11886A>T (n.*7+11886A>T)
20g.34269141T>CCA408649013AHCY,ASIPc.373T>C (p.Cys125Arg)
c.385T>C (p.Cys129Arg)
c.*7+11886A>G (n.*7+11886A>G)
20g.34269141T>GCA408649022AHCY,ASIPc.373T>G (p.Cys125Gly)
c.385T>G (p.Cys129Gly)
c.*7+11886A>C (n.*7+11886A>C)
20g.34269142G>ACA408649027AHCY,ASIPc.374G>A (p.Cys125Tyr)
c.386G>A (p.Cys129Tyr)
c.*7+11885C>T (n.*7+11885C>T)
20g.34269142G>CCA408649030AHCY,ASIPc.374G>C (p.Cys125Ser)
c.386G>C (p.Cys129Ser)
c.*7+11885C>G (n.*7+11885C>G)
20g.34269142G>TCA408649031AHCY,ASIPc.374G>T (p.Cys125Phe)
c.386G>T (p.Cys129Phe)
c.*7+11885C>A (n.*7+11885C>A)
20g.34269142_34269154delCA2652532344AHCY,ASIPc.374_386del (p.Cys125SerfsTer29)
c.374_386del (p.Cys125SerfsTer?)
c.386_398del (p.Cys129SerfsTer29)
c.*7+11873_*7+11885del (n.*7+11873_*7+11885del)
 gnomAD v4
20g.34269143C>ACA9820712AHCY,ASIPc.375C>A (p.Cys125Ter)
c.387C>A (p.Cys129Ter)
c.*7+11884G>T (n.*7+11884G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.34269143C=CA2361127761AHCY,ASIPc.375C= (p.Cys125=)
c.387C= (p.Cys129=)
c.*7+11884G= (n.*7+11884G=)
20g.34269143C>GCA408649034AHCY,ASIPc.375C>G (p.Cys125Trp)
c.387C>G (p.Cys129Trp)
c.*7+11884G>C (n.*7+11884G>C)
20g.34269143C>TCA510271240AHCY,ASIPc.375C>T (p.Cys125=)
c.387C>T (p.Cys129=)
c.*7+11884G>A (n.*7+11884G>A)
 gnomAD v4
20g.34269145_34269175delCA2816205318AHCY,ASIPc.377_*8del (n.[c.377_*8del;Arg126HisfsTer22])
c.377_*8del (n.[c.377_*8del;Arg126=])
c.389_*8del (n.[c.389_*8del;Arg130HisfsTer22])
c.*7+11854_*7+11884del (n.*7+11854_*7+11884del)
20g.34269144C>ACA408649037AHCY,ASIPc.376C>A (p.Arg126Ser)
c.388C>A (p.Arg130Ser)
c.*7+11883G>T (n.*7+11883G>T)
 gnomAD v4
20g.34269144C=CA2361127762AHCY,ASIPc.376C= (p.Arg126=)
c.388C= (p.Arg130=)
c.*7+11883G= (n.*7+11883G=)
20g.34269144C>GCA408649038AHCY,ASIPc.376C>G (p.Arg126Gly)
c.388C>G (p.Arg130Gly)
c.*7+11883G>C (n.*7+11883G>C)
20g.34269144C>TCA408649039AHCY,ASIPc.376C>T (p.Arg126Cys)
c.388C>T (p.Arg130Cys)
c.*7+11883G>A (n.*7+11883G>A)
 dbSNP gnomAD v3 gnomAD v4
20g.34269145G>ACA408649042AHCY,ASIPc.377G>A (p.Arg126His)
c.389G>A (p.Arg130His)
c.*7+11882C>T (n.*7+11882C>T)
 gnomAD v4
20g.34269145G>CCA408649041AHCY,ASIPc.377G>C (p.Arg126Pro)
c.389G>C (p.Arg130Pro)
c.*7+11882C>G (n.*7+11882C>G)
20g.34269145G>TCA408649040AHCY,ASIPc.377G>T (p.Arg126Leu)
c.389G>T (p.Arg130Leu)
c.*7+11882C>A (n.*7+11882C>A)
 gnomAD v4
20g.34269146C>ACA510271242AHCY,ASIPc.378C>A (p.Arg126=)
c.390C>A (p.Arg130=)
c.*7+11881G>T (n.*7+11881G>T)
 gnomAD v4
20g.34269146C>GCA510271245AHCY,ASIPc.378C>G (p.Arg126=)
c.390C>G (p.Arg130=)
c.*7+11881G>C (n.*7+11881G>C)
20g.34269146C>TCA510271244AHCY,ASIPc.378C>T (p.Arg126=)
c.390C>T (p.Arg130=)
c.*7+11881G>A (n.*7+11881G>A)
20g.34269147G>ACA408649043AHCY,ASIPc.379G>A (p.Val127Met)
c.391G>A (p.Val131Met)
c.*7+11880C>T (n.*7+11880C>T)
 gnomAD v4
20g.34269147G>CCA408649044AHCY,ASIPc.379G>C (p.Val127Leu)
c.391G>C (p.Val131Leu)
c.*7+11880C>G (n.*7+11880C>G)
 dbSNP gnomAD v2
20g.34269147G=CA2361127763AHCY,ASIPc.379G= (p.Val127=)
c.391G= (p.Val131=)
c.*7+11880C= (n.*7+11880C=)
20g.34269147G>TCA408649045AHCY,ASIPc.379G>T (p.Val127Leu)
c.391G>T (p.Val131Leu)
c.*7+11880C>A (n.*7+11880C>A)
20g.34269148T>ACA408649046AHCY,ASIPc.380T>A (p.Val127Glu)
c.392T>A (p.Val131Glu)
c.*7+11879A>T (n.*7+11879A>T)
20g.34269148T>CCA408649047AHCY,ASIPc.380T>C (p.Val127Ala)
c.392T>C (p.Val131Ala)
c.*7+11879A>G (n.*7+11879A>G)
 gnomAD v4
20g.34269148T>GCA408649048AHCY,ASIPc.380T>G (p.Val127Gly)
c.392T>G (p.Val131Gly)
c.*7+11879A>C (n.*7+11879A>C)

Number of alleles fetched