Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.77901178T>ACA484395471EDNRB,EDNRB-AS1c.831A>T (p.Leu277=)
c.309A>T (p.Leu103=)
c.1101A>T (p.Leu367=)
n.1695-6514T>A
13g.77901178T>CCA7012233EDNRB,EDNRB-AS1c.831A>G (p.Leu277=)
c.309A>G (p.Leu103=)
c.1101A>G (p.Leu367=)
n.1695-6514T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.77901178T>GCA253048132EDNRB,EDNRB-AS1c.831A>C (p.Leu277=)
c.309A>C (p.Leu103=)
c.1101A>C (p.Leu367=)
n.1695-6514T>G
 dbSNP gnomAD v4
13g.77901178T=CA2018007873EDNRB,EDNRB-AS1c.831A= (p.Leu277=)
c.309A= (p.Leu103=)
c.1101A= (p.Leu367=)
n.1695-6514T=
13g.77901178_77901179delinsCCCA501212EDNRB,EDNRB-AS1c.830_831delinsGG (p.Leu277Arg)
c.308_309delinsGG (p.Leu103Arg)
c.1100_1101delinsGG (p.Leu367Arg)
n.1695-6514_1695-6513delinsCC
13g.77901179A=CA2103861143EDNRB,EDNRB-AS1c.830T= (p.Leu277=)
c.308T= (p.Leu103=)
c.1100T= (p.Leu367=)
n.1695-6513A=
13g.77901179A>CCA388452156EDNRB,EDNRB-AS1c.830T>G (p.Leu277Arg)
c.308T>G (p.Leu103Arg)
c.1100T>G (p.Leu367Arg)
n.1695-6513A>C
 ClinVar dbSNP
13g.77901179A>GCA388452157EDNRB,EDNRB-AS1c.830T>C (p.Leu277Pro)
c.308T>C (p.Leu103Pro)
c.1100T>C (p.Leu367Pro)
n.1695-6513A>G
13g.77901179A>TCA388452158EDNRB,EDNRB-AS1c.830T>A (p.Leu277Gln)
c.308T>A (p.Leu103Gln)
c.1100T>A (p.Leu367Gln)
n.1695-6513A>T
13g.77901180G>ACA253048133EDNRB,EDNRB-AS1c.829C>T (p.Leu277=)
c.307C>T (p.Leu103=)
c.1099C>T (p.Leu367=)
n.1695-6512G>A
 dbSNP gnomAD v4
13g.77901180G>CCA388452160EDNRB,EDNRB-AS1c.829C>G (p.Leu277Val)
c.307C>G (p.Leu103Val)
c.1099C>G (p.Leu367Val)
n.1695-6512G>C
13g.77901180G=CA2103861153EDNRB,EDNRB-AS1c.829C= (p.Leu277=)
c.307C= (p.Leu103=)
c.1099C= (p.Leu367=)
n.1695-6512G=
13g.77901180G>TCA388452159EDNRB,EDNRB-AS1c.829C>A (p.Leu277Ile)
c.307C>A (p.Leu103Ile)
c.1099C>A (p.Leu367Ile)
n.1695-6512G>T
13g.77901181C>ACA126743EDNRB,EDNRB-AS1c.828G>T (p.Trp276Cys)
c.306G>T (p.Trp102Cys)
c.1098G>T (p.Trp366Cys)
n.1695-6511C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.77901181C=CA2103861160EDNRB,EDNRB-AS1c.828G= (p.Trp276=)
c.306G= (p.Trp102=)
c.1098G= (p.Trp366=)
n.1695-6511C=
13g.77901181C>GCA388452161EDNRB,EDNRB-AS1c.828G>C (p.Trp276Cys)
c.306G>C (p.Trp102Cys)
c.1098G>C (p.Trp366Cys)
n.1695-6511C>G
13g.77901181C>TCA388452162EDNRB,EDNRB-AS1c.828G>A (p.Trp276Ter)
c.306G>A (p.Trp102Ter)
c.1098G>A (p.Trp366Ter)
n.1695-6511C>T
 gnomAD v4
13g.77901182C>ACA388452163EDNRB,EDNRB-AS1c.827G>T (p.Trp276Leu)
c.305G>T (p.Trp102Leu)
c.1097G>T (p.Trp366Leu)
n.1695-6510C>A
13g.77901182C>GCA388452164EDNRB,EDNRB-AS1c.827G>C (p.Trp276Ser)
c.305G>C (p.Trp102Ser)
c.1097G>C (p.Trp366Ser)
n.1695-6510C>G
13g.77901182C>TCA388452165EDNRB,EDNRB-AS1c.827G>A (p.Trp276Ter)
c.305G>A (p.Trp102Ter)
c.1097G>A (p.Trp366Ter)
n.1695-6510C>T
13g.77901183A>CCA388452166EDNRB,EDNRB-AS1c.826T>G (p.Trp276Gly)
c.304T>G (p.Trp102Gly)
c.1096T>G (p.Trp366Gly)
n.1695-6509A>C
13g.77901183A>GCA388452167EDNRB,EDNRB-AS1c.826T>C (p.Trp276Arg)
c.304T>C (p.Trp102Arg)
c.1096T>C (p.Trp366Arg)
n.1695-6509A>G
13g.77901183A>TCA388452168EDNRB,EDNRB-AS1c.826T>A (p.Trp276Arg)
c.304T>A (p.Trp102Arg)
c.1096T>A (p.Trp366Arg)
n.1695-6509A>T
13g.77901184C>ACA388452169EDNRB,EDNRB-AS1c.825G>T (p.Trp275Cys)
c.303G>T (p.Trp101Cys)
c.1095G>T (p.Trp365Cys)
n.1695-6508C>A
13g.77901184C>GCA388452170EDNRB,EDNRB-AS1c.825G>C (p.Trp275Cys)
c.303G>C (p.Trp101Cys)
c.1095G>C (p.Trp365Cys)
n.1695-6508C>G
 gnomAD v4
13g.77901184C>TCA388452171EDNRB,EDNRB-AS1c.825G>A (p.Trp275Ter)
c.303G>A (p.Trp101Ter)
c.1095G>A (p.Trp365Ter)
n.1695-6508C>T
13g.77901185C>ACA388452172EDNRB,EDNRB-AS1c.824G>T (p.Trp275Leu)
c.302G>T (p.Trp101Leu)
c.1094G>T (p.Trp365Leu)
n.1695-6507C>A
 gnomAD v4
13g.77901185C=CA2103861175EDNRB,EDNRB-AS1c.824G= (p.Trp275=)
c.302G= (p.Trp101=)
c.1094G= (p.Trp365=)
n.1695-6507C=
13g.77901185C>GCA7012234EDNRB,EDNRB-AS1c.824G>C (p.Trp275Ser)
c.302G>C (p.Trp101Ser)
c.1094G>C (p.Trp365Ser)
n.1695-6507C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.77901185C>TCA257559EDNRB,EDNRB-AS1c.824G>A (p.Trp275Ter)
c.302G>A (p.Trp101Ter)
c.1094G>A (p.Trp365Ter)
n.1695-6507C>T
 ClinVar dbSNP gnomAD v4
13g.77901186A=CA2103861188EDNRB,EDNRB-AS1c.823T= (p.Trp275=)
c.301T= (p.Trp101=)
c.1093T= (p.Trp365=)
n.1695-6506A=
13g.77901186A>CCA388452173EDNRB,EDNRB-AS1c.823T>G (p.Trp275Gly)
c.301T>G (p.Trp101Gly)
c.1093T>G (p.Trp365Gly)
n.1695-6506A>C
 dbSNP gnomAD v3 gnomAD v4
13g.77901186A>GCA388452174EDNRB,EDNRB-AS1c.823T>C (p.Trp275Arg)
c.301T>C (p.Trp101Arg)
c.1093T>C (p.Trp365Arg)
n.1695-6506A>G
 dbSNP
13g.77901186A>TCA388452175EDNRB,EDNRB-AS1c.823T>A (p.Trp275Arg)
c.301T>A (p.Trp101Arg)
c.1093T>A (p.Trp365Arg)
n.1695-6506A>T
13g.77901187A>CCA388452176EDNRB,EDNRB-AS1c.822T>G (p.Asp274Glu)
c.300T>G (p.Asp100Glu)
c.1092T>G (p.Asp364Glu)
n.1695-6505A>C
13g.77901187A>GCA484395472EDNRB,EDNRB-AS1c.822T>C (p.Asp274=)
c.300T>C (p.Asp100=)
c.1092T>C (p.Asp364=)
n.1695-6505A>G
 gnomAD v4
13g.77901187A>TCA388452177EDNRB,EDNRB-AS1c.822T>A (p.Asp274Glu)
c.300T>A (p.Asp100Glu)
c.1092T>A (p.Asp364Glu)
n.1695-6505A>T
13g.77901188T>ACA7012235EDNRB,EDNRB-AS1c.821A>T (p.Asp274Val)
c.299A>T (p.Asp100Val)
c.1091A>T (p.Asp364Val)
n.1695-6504T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.77901188T>CCA253048134EDNRB,EDNRB-AS1c.821A>G (p.Asp274Gly)
c.299A>G (p.Asp100Gly)
c.1091A>G (p.Asp364Gly)
n.1695-6504T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.77901188T>GCA388452178EDNRB,EDNRB-AS1c.821A>C (p.Asp274Ala)
c.299A>C (p.Asp100Ala)
c.1091A>C (p.Asp364Ala)
n.1695-6504T>G
13g.77901188T=CA2103861192EDNRB,EDNRB-AS1c.821A= (p.Asp274=)
c.299A= (p.Asp100=)
c.1091A= (p.Asp364=)
n.1695-6504T=
13g.77901189C>ACA7012236EDNRB,EDNRB-AS1c.820G>T (p.Asp274Tyr)
c.298G>T (p.Asp100Tyr)
c.1090G>T (p.Asp364Tyr)
n.1695-6503C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.77901189C=CA2103861202EDNRB,EDNRB-AS1c.820G= (p.Asp274=)
c.298G= (p.Asp100=)
c.1090G= (p.Asp364=)
n.1695-6503C=
13g.77901189C>GCA388452179EDNRB,EDNRB-AS1c.820G>C (p.Asp274His)
c.298G>C (p.Asp100His)
c.1090G>C (p.Asp364His)
n.1695-6503C>G
 dbSNP
13g.77901189C>TCA7012237EDNRB,EDNRB-AS1c.820G>A (p.Asp274Asn)
c.298G>A (p.Asp100Asn)
c.1090G>A (p.Asp364Asn)
n.1695-6503C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
13g.77901190T>ACA388452180EDNRB,EDNRB-AS1c.819A>T (p.Lys273Asn)
c.297A>T (p.Lys99Asn)
c.1089A>T (p.Lys363Asn)
n.1695-6502T>A
13g.77901190T>CCA7012238EDNRB,EDNRB-AS1c.819A>G (p.Lys273=)
c.297A>G (p.Lys99=)
c.1089A>G (p.Lys363=)
n.1695-6502T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.77901190T>GCA388452181EDNRB,EDNRB-AS1c.819A>C (p.Lys273Asn)
c.297A>C (p.Lys99Asn)
c.1089A>C (p.Lys363Asn)
n.1695-6502T>G
13g.77901190T=CA2103861211EDNRB,EDNRB-AS1c.819A= (p.Lys273=)
c.297A= (p.Lys99=)
c.1089A= (p.Lys363=)
n.1695-6502T=
13g.77901191T>ACA388452182EDNRB,EDNRB-AS1c.818A>T (p.Lys273Ile)
c.296A>T (p.Lys99Ile)
c.1088A>T (p.Lys363Ile)
n.1695-6501T>A

Number of alleles fetched