Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.122381388G>ACA374780410PTGS1c.514G>A (p.Asp172Asn)
c.187G>A (p.Asp63Asn)
c.313-108G>A (n.313-108G>A)
c.439G>A (p.Asp147Asn)
c.370G>A (p.Asp124Asn)
n.608G>A
n.519+2815G>A
c.*359G>A (n.*359G>A)
c.304-108G>A (n.304-108G>A)
c.607G>A (p.Asp203Asn)
9g.122381388G>CCA374780412PTGS1c.514G>C (p.Asp172His)
c.187G>C (p.Asp63His)
c.313-108G>C (n.313-108G>C)
c.439G>C (p.Asp147His)
c.370G>C (p.Asp124His)
n.608G>C
n.519+2815G>C
c.*359G>C (n.*359G>C)
c.304-108G>C (n.304-108G>C)
c.607G>C (p.Asp203His)
dbSNP gnomAD v3 gnomAD v4
9g.122381388G=CA1877496546PTGS1c.514G= (p.Asp172=)
c.187G= (p.Asp63=)
c.313-108G= (n.313-108G=)
c.439G= (p.Asp147=)
c.370G= (p.Asp124=)
n.608G=
n.519+2815G=
c.*359G= (n.*359G=)
c.304-108G= (n.304-108G=)
c.607G= (p.Asp203=)
9g.122381388G>TCA374780413PTGS1c.514G>T (p.Asp172Tyr)
c.187G>T (p.Asp63Tyr)
c.313-108G>T (n.313-108G>T)
c.439G>T (p.Asp147Tyr)
c.370G>T (p.Asp124Tyr)
n.608G>T
n.519+2815G>T
c.*359G>T (n.*359G>T)
c.304-108G>T (n.304-108G>T)
c.607G>T (p.Asp203Tyr)
9g.122381389A>CCA374780418PTGS1c.515A>C (p.Asp172Ala)
c.188A>C (p.Asp63Ala)
c.313-107A>C (n.313-107A>C)
c.440A>C (p.Asp147Ala)
c.371A>C (p.Asp124Ala)
n.609A>C
n.519+2816A>C
c.*360A>C (n.*360A>C)
c.304-107A>C (n.304-107A>C)
c.608A>C (p.Asp203Ala)
9g.122381389A>GCA374780417PTGS1c.515A>G (p.Asp172Gly)
c.188A>G (p.Asp63Gly)
c.313-107A>G (n.313-107A>G)
c.440A>G (p.Asp147Gly)
c.371A>G (p.Asp124Gly)
n.609A>G
n.519+2816A>G
c.*360A>G (n.*360A>G)
c.304-107A>G (n.304-107A>G)
c.608A>G (p.Asp203Gly)
9g.122381389A>TCA374780415PTGS1c.515A>T (p.Asp172Val)
c.188A>T (p.Asp63Val)
c.313-107A>T (n.313-107A>T)
c.440A>T (p.Asp147Val)
c.371A>T (p.Asp124Val)
n.609A>T
n.519+2816A>T
c.*360A>T (n.*360A>T)
c.304-107A>T (n.304-107A>T)
c.608A>T (p.Asp203Val)
9g.122381390T>ACA5224838PTGS1c.516T>A (p.Asp172Glu)
c.189T>A (p.Asp63Glu)
c.313-106T>A (n.313-106T>A)
c.441T>A (p.Asp147Glu)
c.372T>A (p.Asp124Glu)
n.610T>A
n.519+2817T>A
c.*361T>A (n.*361T>A)
c.304-106T>A (n.304-106T>A)
c.609T>A (p.Asp203Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.122381390T>CCA467190897PTGS1c.516T>C (p.Asp172=)
c.189T>C (p.Asp63=)
c.313-106T>C (n.313-106T>C)
c.441T>C (p.Asp147=)
c.372T>C (p.Asp124=)
n.610T>C
n.519+2817T>C
c.*361T>C (n.*361T>C)
c.304-106T>C (n.304-106T>C)
c.609T>C (p.Asp203=)
9g.122381390T>GCA374780420PTGS1c.516T>G (p.Asp172Glu)
c.189T>G (p.Asp63Glu)
c.313-106T>G (n.313-106T>G)
c.441T>G (p.Asp147Glu)
c.372T>G (p.Asp124Glu)
n.610T>G
n.519+2817T>G
c.*361T>G (n.*361T>G)
c.304-106T>G (n.304-106T>G)
c.609T>G (p.Asp203Glu)
9g.122381390T=CA1877496547PTGS1c.516T= (p.Asp172=)
c.189T= (p.Asp63=)
c.313-106T= (n.313-106T=)
c.441T= (p.Asp147=)
c.372T= (p.Asp124=)
n.610T=
n.519+2817T=
c.*361T= (n.*361T=)
c.304-106T= (n.304-106T=)
c.609T= (p.Asp203=)
9g.122381391G>ACA374780426PTGS1c.517G>A (p.Ala173Thr)
c.190G>A (p.Ala64Thr)
c.313-105G>A (n.313-105G>A)
c.442G>A (p.Ala148Thr)
c.373G>A (p.Ala125Thr)
n.611G>A
n.519+2818G>A
c.*362G>A (n.*362G>A)
c.304-105G>A (n.304-105G>A)
c.610G>A (p.Ala204Thr)
9g.122381391G>CCA374780422PTGS1c.517G>C (p.Ala173Pro)
c.190G>C (p.Ala64Pro)
c.313-105G>C (n.313-105G>C)
c.442G>C (p.Ala148Pro)
c.373G>C (p.Ala125Pro)
n.611G>C
n.519+2818G>C
c.*362G>C (n.*362G>C)
c.304-105G>C (n.304-105G>C)
c.610G>C (p.Ala204Pro)
9g.122381391G>TCA374780425PTGS1c.517G>T (p.Ala173Ser)
c.190G>T (p.Ala64Ser)
c.313-105G>T (n.313-105G>T)
c.442G>T (p.Ala148Ser)
c.373G>T (p.Ala125Ser)
n.611G>T
n.519+2818G>T
c.*362G>T (n.*362G>T)
c.304-105G>T (n.304-105G>T)
c.610G>T (p.Ala204Ser)
9g.122381392C>ACA374780427PTGS1c.518C>A (p.Ala173Asp)
c.191C>A (p.Ala64Asp)
c.313-104C>A (n.313-104C>A)
c.443C>A (p.Ala148Asp)
c.374C>A (p.Ala125Asp)
n.612C>A
n.519+2819C>A
c.*363C>A (n.*363C>A)
c.304-104C>A (n.304-104C>A)
c.611C>A (p.Ala204Asp)
9g.122381392C>GCA374780429PTGS1c.518C>G (p.Ala173Gly)
c.191C>G (p.Ala64Gly)
c.313-104C>G (n.313-104C>G)
c.443C>G (p.Ala148Gly)
c.374C>G (p.Ala125Gly)
n.612C>G
n.519+2819C>G
c.*363C>G (n.*363C>G)
c.304-104C>G (n.304-104C>G)
c.611C>G (p.Ala204Gly)
9g.122381392C>TCA374780431PTGS1c.518C>T (p.Ala173Val)
c.191C>T (p.Ala64Val)
c.313-104C>T (n.313-104C>T)
c.443C>T (p.Ala148Val)
c.374C>T (p.Ala125Val)
n.612C>T
n.519+2819C>T
c.*363C>T (n.*363C>T)
c.304-104C>T (n.304-104C>T)
c.611C>T (p.Ala204Val)
9g.122381393C>ACA467190898PTGS1c.519C>A (p.Ala173=)
c.192C>A (p.Ala64=)
c.313-103C>A (n.313-103C>A)
c.444C>A (p.Ala148=)
c.375C>A (p.Ala125=)
n.613C>A
n.519+2820C>A
c.*364C>A (n.*364C>A)
c.304-103C>A (n.304-103C>A)
c.612C>A (p.Ala204=)
dbSNP
9g.122381393C>GCA467190899PTGS1c.519C>G (p.Ala173=)
c.192C>G (p.Ala64=)
c.313-103C>G (n.313-103C>G)
c.444C>G (p.Ala148=)
c.375C>G (p.Ala125=)
n.613C>G
n.519+2820C>G
c.*364C>G (n.*364C>G)
c.304-103C>G (n.304-103C>G)
c.612C>G (p.Ala204=)
9g.122381393C>TCA467190900PTGS1c.519C>T (p.Ala173=)
c.192C>T (p.Ala64=)
c.313-103C>T (n.313-103C>T)
c.444C>T (p.Ala148=)
c.375C>T (p.Ala125=)
n.613C>T
n.519+2820C>T
c.*364C>T (n.*364C>T)
c.304-103C>T (n.304-103C>T)
c.612C>T (p.Ala204=)
9g.122381393_122381395delCA2691551906PTGS1c.519_521del (p.Gln174del)
c.192_194del (p.Gln65del)
c.313-103_313-101del (n.313-103_313-101del)
c.444_446del (p.Gln149del)
c.375_377del (p.Gln126del)
n.613_615del
n.519+2820_519+2822del
c.*364_*366del (n.*364_*366del)
c.304-103_304-101del (n.304-103_304-101del)
c.612_614del (p.Gln205del)
gnomAD v4
9g.122381394C>ACA374780432PTGS1c.520C>A (p.Gln174Lys)
c.193C>A (p.Gln65Lys)
c.313-102C>A (n.313-102C>A)
c.445C>A (p.Gln149Lys)
c.376C>A (p.Gln126Lys)
n.614C>A
n.519+2821C>A
c.*365C>A (n.*365C>A)
c.304-102C>A (n.304-102C>A)
c.613C>A (p.Gln205Lys)
9g.122381394C>GCA374780434PTGS1c.520C>G (p.Gln174Glu)
c.193C>G (p.Gln65Glu)
c.313-102C>G (n.313-102C>G)
c.445C>G (p.Gln149Glu)
c.376C>G (p.Gln126Glu)
n.614C>G
n.519+2821C>G
c.*365C>G (n.*365C>G)
c.304-102C>G (n.304-102C>G)
c.613C>G (p.Gln205Glu)
9g.122381394C>TCA374780436PTGS1c.520C>T (p.Gln174Ter)
c.193C>T (p.Gln65Ter)
c.313-102C>T (n.313-102C>T)
c.445C>T (p.Gln149Ter)
c.376C>T (p.Gln126Ter)
n.614C>T
n.519+2821C>T
c.*365C>T (n.*365C>T)
c.304-102C>T (n.304-102C>T)
c.613C>T (p.Gln205Ter)
gnomAD v4
9g.122381395A>CCA374780440PTGS1c.521A>C (p.Gln174Pro)
c.194A>C (p.Gln65Pro)
c.313-101A>C (n.313-101A>C)
c.446A>C (p.Gln149Pro)
c.377A>C (p.Gln126Pro)
n.615A>C
n.519+2822A>C
c.*366A>C (n.*366A>C)
c.304-101A>C (n.304-101A>C)
c.614A>C (p.Gln205Pro)
9g.122381395A>GCA374780442PTGS1c.521A>G (p.Gln174Arg)
c.194A>G (p.Gln65Arg)
c.313-101A>G (n.313-101A>G)
c.446A>G (p.Gln149Arg)
c.377A>G (p.Gln126Arg)
n.615A>G
n.519+2822A>G
c.*366A>G (n.*366A>G)
c.304-101A>G (n.304-101A>G)
c.614A>G (p.Gln205Arg)
9g.122381395A>TCA374780444PTGS1c.521A>T (p.Gln174Leu)
c.194A>T (p.Gln65Leu)
c.313-101A>T (n.313-101A>T)
c.446A>T (p.Gln149Leu)
c.377A>T (p.Gln126Leu)
n.615A>T
n.519+2822A>T
c.*366A>T (n.*366A>T)
c.304-101A>T (n.304-101A>T)
c.614A>T (p.Gln205Leu)
9g.122381396G>ACA467190901PTGS1c.522G>A (p.Gln174=)
c.195G>A (p.Gln65=)
c.313-100G>A (n.313-100G>A)
c.447G>A (p.Gln149=)
c.378G>A (p.Gln126=)
n.616G>A
n.519+2823G>A
c.*367G>A (n.*367G>A)
c.304-100G>A (n.304-100G>A)
c.615G>A (p.Gln205=)
9g.122381396G>CCA374780446PTGS1c.522G>C (p.Gln174His)
c.195G>C (p.Gln65His)
c.313-100G>C (n.313-100G>C)
c.447G>C (p.Gln149His)
c.378G>C (p.Gln126His)
n.616G>C
n.519+2823G>C
c.*367G>C (n.*367G>C)
c.304-100G>C (n.304-100G>C)
c.615G>C (p.Gln205His)
9g.122381396G>TCA374780447PTGS1c.522G>T (p.Gln174His)
c.195G>T (p.Gln65His)
c.313-100G>T (n.313-100G>T)
c.447G>T (p.Gln149His)
c.378G>T (p.Gln126His)
n.616G>T
n.519+2823G>T
c.*367G>T (n.*367G>T)
c.304-100G>T (n.304-100G>T)
c.615G>T (p.Gln205His)
9g.122381397C>ACA374780449PTGS1c.523C>A (p.Leu175Ile)
c.196C>A (p.Leu66Ile)
c.313-99C>A (n.313-99C>A)
c.448C>A (p.Leu150Ile)
c.379C>A (p.Leu127Ile)
n.617C>A
n.519+2824C>A
c.*368C>A (n.*368C>A)
c.304-99C>A (n.304-99C>A)
c.616C>A (p.Leu206Ile)
9g.122381397C=CA1877496548PTGS1c.523C= (p.Leu175=)
c.196C= (p.Leu66=)
c.313-99C= (n.313-99C=)
c.448C= (p.Leu150=)
c.379C= (p.Leu127=)
n.617C=
n.519+2824C=
c.*368C= (n.*368C=)
c.304-99C= (n.304-99C=)
c.616C= (p.Leu206=)
9g.122381397C>GCA374780448PTGS1c.523C>G (p.Leu175Val)
c.196C>G (p.Leu66Val)
c.313-99C>G (n.313-99C>G)
c.448C>G (p.Leu150Val)
c.379C>G (p.Leu127Val)
n.617C>G
n.519+2824C>G
c.*368C>G (n.*368C>G)
c.304-99C>G (n.304-99C>G)
c.616C>G (p.Leu206Val)
gnomAD v4
9g.122381397C>TCA5224839PTGS1c.523C>T (p.Leu175Phe)
c.196C>T (p.Leu66Phe)
c.313-99C>T (n.313-99C>T)
c.448C>T (p.Leu150Phe)
c.379C>T (p.Leu127Phe)
n.617C>T
n.519+2824C>T
c.*368C>T (n.*368C>T)
c.304-99C>T (n.304-99C>T)
c.616C>T (p.Leu206Phe)
dbSNP ExAC gnomAD v2
9g.122381398_122381406delCA2691551907PTGS1c.524_532del (p.Leu175_Ala177del)
c.197_205del (p.Leu66_Ala68del)
c.313-98_313-90del (n.313-98_313-90del)
c.449_457del (p.Leu150_Ala152del)
c.380_388del (p.Leu127_Ala129del)
n.618_626del
n.519+2825_519+2833del
c.*369_*377del (n.*369_*377del)
c.304-98_304-90del (n.304-98_304-90del)
c.617_625del (p.Leu206_Ala208del)
gnomAD v4
9g.122381398T>ACA374780450PTGS1c.524T>A (p.Leu175His)
c.197T>A (p.Leu66His)
c.313-98T>A (n.313-98T>A)
c.449T>A (p.Leu150His)
c.380T>A (p.Leu127His)
n.618T>A
n.519+2825T>A
c.*369T>A (n.*369T>A)
c.304-98T>A (n.304-98T>A)
c.617T>A (p.Leu206His)
9g.122381398T>CCA374780451PTGS1c.524T>C (p.Leu175Pro)
c.197T>C (p.Leu66Pro)
c.313-98T>C (n.313-98T>C)
c.449T>C (p.Leu150Pro)
c.380T>C (p.Leu127Pro)
n.618T>C
n.519+2825T>C
c.*369T>C (n.*369T>C)
c.304-98T>C (n.304-98T>C)
c.617T>C (p.Leu206Pro)
gnomAD v4
9g.122381398T>GCA374780453PTGS1c.524T>G (p.Leu175Arg)
c.197T>G (p.Leu66Arg)
c.313-98T>G (n.313-98T>G)
c.449T>G (p.Leu150Arg)
c.380T>G (p.Leu127Arg)
n.618T>G
n.519+2825T>G
c.*369T>G (n.*369T>G)
c.304-98T>G (n.304-98T>G)
c.617T>G (p.Leu206Arg)
9g.122381399C>ACA5224840PTGS1c.525C>A (p.Leu175=)
c.198C>A (p.Leu66=)
c.313-97C>A (n.313-97C>A)
c.450C>A (p.Leu150=)
c.381C>A (p.Leu127=)
n.619C>A
n.519+2826C>A
c.*370C>A (n.*370C>A)
c.304-97C>A (n.304-97C>A)
c.618C>A (p.Leu206=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.122381399C=CA1877496549PTGS1c.525C= (p.Leu175=)
c.198C= (p.Leu66=)
c.313-97C= (n.313-97C=)
c.450C= (p.Leu150=)
c.381C= (p.Leu127=)
n.619C=
n.519+2826C=
c.*370C= (n.*370C=)
c.304-97C= (n.304-97C=)
c.618C= (p.Leu206=)
9g.122381399C>GCA467190903PTGS1c.525C>G (p.Leu175=)
c.198C>G (p.Leu66=)
c.313-97C>G (n.313-97C>G)
c.450C>G (p.Leu150=)
c.381C>G (p.Leu127=)
n.619C>G
n.519+2826C>G
c.*370C>G (n.*370C>G)
c.304-97C>G (n.304-97C>G)
c.618C>G (p.Leu206=)
dbSNP gnomAD v3 gnomAD v4
9g.122381399C>TCA467190902PTGS1c.525C>T (p.Leu175=)
c.198C>T (p.Leu66=)
c.313-97C>T (n.313-97C>T)
c.450C>T (p.Leu150=)
c.381C>T (p.Leu127=)
n.619C>T
n.519+2826C>T
c.*370C>T (n.*370C>T)
c.304-97C>T (n.304-97C>T)
c.618C>T (p.Leu206=)
9g.122381400C>ACA374780455PTGS1c.526C>A (p.Leu176Met)
c.199C>A (p.Leu67Met)
c.313-96C>A (n.313-96C>A)
c.451C>A (p.Leu151Met)
c.382C>A (p.Leu128Met)
n.620C>A
n.519+2827C>A
c.*371C>A (n.*371C>A)
c.304-96C>A (n.304-96C>A)
c.619C>A (p.Leu207Met)
9g.122381400C>GCA374780457PTGS1c.526C>G (p.Leu176Val)
c.199C>G (p.Leu67Val)
c.313-96C>G (n.313-96C>G)
c.451C>G (p.Leu151Val)
c.382C>G (p.Leu128Val)
n.620C>G
n.519+2827C>G
c.*371C>G (n.*371C>G)
c.304-96C>G (n.304-96C>G)
c.619C>G (p.Leu207Val)
9g.122381400C>TCA467190904PTGS1c.526C>T (p.Leu176=)
c.199C>T (p.Leu67=)
c.313-96C>T (n.313-96C>T)
c.451C>T (p.Leu151=)
c.382C>T (p.Leu128=)
n.620C>T
n.519+2827C>T
c.*371C>T (n.*371C>T)
c.304-96C>T (n.304-96C>T)
c.619C>T (p.Leu207=)
9g.122381401T>ACA374780459PTGS1c.527T>A (p.Leu176Gln)
c.200T>A (p.Leu67Gln)
c.313-95T>A (n.313-95T>A)
c.452T>A (p.Leu151Gln)
c.383T>A (p.Leu128Gln)
n.621T>A
n.519+2828T>A
c.*372T>A (n.*372T>A)
c.304-95T>A (n.304-95T>A)
c.620T>A (p.Leu207Gln)
9g.122381401T>CCA374780461PTGS1c.527T>C (p.Leu176Pro)
c.200T>C (p.Leu67Pro)
c.313-95T>C (n.313-95T>C)
c.452T>C (p.Leu151Pro)
c.383T>C (p.Leu128Pro)
n.621T>C
n.519+2828T>C
c.*372T>C (n.*372T>C)
c.304-95T>C (n.304-95T>C)
c.620T>C (p.Leu207Pro)
9g.122381401T>GCA374780463PTGS1c.527T>G (p.Leu176Arg)
c.200T>G (p.Leu67Arg)
c.313-95T>G (n.313-95T>G)
c.452T>G (p.Leu151Arg)
c.383T>G (p.Leu128Arg)
n.621T>G
n.519+2828T>G
c.*372T>G (n.*372T>G)
c.304-95T>G (n.304-95T>G)
c.620T>G (p.Leu207Arg)
9g.122381402G>ACA467190905PTGS1c.528G>A (p.Leu176=)
c.201G>A (p.Leu67=)
c.313-94G>A (n.313-94G>A)
c.453G>A (p.Leu151=)
c.384G>A (p.Leu128=)
n.622G>A
n.519+2829G>A
c.*373G>A (n.*373G>A)
c.304-94G>A (n.304-94G>A)
c.621G>A (p.Leu207=)
9g.122381402G>CCA467190906PTGS1c.528G>C (p.Leu176=)
c.201G>C (p.Leu67=)
c.313-94G>C (n.313-94G>C)
c.453G>C (p.Leu151=)
c.384G>C (p.Leu128=)
n.622G>C
n.519+2829G>C
c.*373G>C (n.*373G>C)
c.304-94G>C (n.304-94G>C)
c.621G>C (p.Leu207=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.122381402G=CA1877496550PTGS1c.528G= (p.Leu176=)
c.201G= (p.Leu67=)
c.313-94G= (n.313-94G=)
c.453G= (p.Leu151=)
c.384G= (p.Leu128=)
n.622G=
n.519+2829G=
c.*373G= (n.*373G=)
c.304-94G= (n.304-94G=)
c.621G= (p.Leu207=)
9g.122381402G>TCA467190907PTGS1c.528G>T (p.Leu176=)
c.201G>T (p.Leu67=)
c.313-94G>T (n.313-94G>T)
c.453G>T (p.Leu151=)
c.384G>T (p.Leu128=)
n.622G>T
n.519+2829G>T
c.*373G>T (n.*373G>T)
c.304-94G>T (n.304-94G>T)
c.621G>T (p.Leu207=)
9g.122381403G>ACA374780464PTGS1c.529G>A (p.Ala177Thr)
c.202G>A (p.Ala68Thr)
c.313-93G>A (n.313-93G>A)
c.454G>A (p.Ala152Thr)
c.385G>A (p.Ala129Thr)
n.623G>A
n.519+2830G>A
c.*374G>A (n.*374G>A)
c.304-93G>A (n.304-93G>A)
c.622G>A (p.Ala208Thr)
dbSNP gnomAD v4
9g.122381403G>CCA374780465PTGS1c.529G>C (p.Ala177Pro)
c.202G>C (p.Ala68Pro)
c.313-93G>C (n.313-93G>C)
c.454G>C (p.Ala152Pro)
c.385G>C (p.Ala129Pro)
n.623G>C
n.519+2830G>C
c.*374G>C (n.*374G>C)
c.304-93G>C (n.304-93G>C)
c.622G>C (p.Ala208Pro)
9g.122381403G=CA1877496551PTGS1c.529G= (p.Ala177=)
c.202G= (p.Ala68=)
c.313-93G= (n.313-93G=)
c.454G= (p.Ala152=)
c.385G= (p.Ala129=)
n.623G=
n.519+2830G=
c.*374G= (n.*374G=)
c.304-93G= (n.304-93G=)
c.622G= (p.Ala208=)
9g.122381403G>TCA374780466PTGS1c.529G>T (p.Ala177Ser)
c.202G>T (p.Ala68Ser)
c.313-93G>T (n.313-93G>T)
c.454G>T (p.Ala152Ser)
c.385G>T (p.Ala129Ser)
n.623G>T
n.519+2830G>T
c.*374G>T (n.*374G>T)
c.304-93G>T (n.304-93G>T)
c.622G>T (p.Ala208Ser)
9g.122381404C>ACA374780471PTGS1c.530C>A (p.Ala177Asp)
c.203C>A (p.Ala68Asp)
c.313-92C>A (n.313-92C>A)
c.455C>A (p.Ala152Asp)
c.386C>A (p.Ala129Asp)
n.624C>A
n.519+2831C>A
c.*375C>A (n.*375C>A)
c.304-92C>A (n.304-92C>A)
c.623C>A (p.Ala208Asp)
gnomAD v4
9g.122381404C=CA1877496552PTGS1c.530C= (p.Ala177=)
c.203C= (p.Ala68=)
c.313-92C= (n.313-92C=)
c.455C= (p.Ala152=)
c.386C= (p.Ala129=)
n.624C=
n.519+2831C=
c.*375C= (n.*375C=)
c.304-92C= (n.304-92C=)
c.623C= (p.Ala208=)
9g.122381404C>GCA374780470PTGS1c.530C>G (p.Ala177Gly)
c.203C>G (p.Ala68Gly)
c.313-92C>G (n.313-92C>G)
c.455C>G (p.Ala152Gly)
c.386C>G (p.Ala129Gly)
n.624C>G
n.519+2831C>G
c.*375C>G (n.*375C>G)
c.304-92C>G (n.304-92C>G)
c.623C>G (p.Ala208Gly)
9g.122381404C>TCA374780468PTGS1c.530C>T (p.Ala177Val)
c.203C>T (p.Ala68Val)
c.313-92C>T (n.313-92C>T)
c.455C>T (p.Ala152Val)
c.386C>T (p.Ala129Val)
n.624C>T
n.519+2831C>T
c.*375C>T (n.*375C>T)
c.304-92C>T (n.304-92C>T)
c.623C>T (p.Ala208Val)
dbSNP
9g.122381405C>ACA467190908PTGS1c.531C>A (p.Ala177=)
c.204C>A (p.Ala68=)
c.313-91C>A (n.313-91C>A)
c.456C>A (p.Ala152=)
c.387C>A (p.Ala129=)
n.625C>A
n.519+2832C>A
c.*376C>A (n.*376C>A)
c.304-91C>A (n.304-91C>A)
c.624C>A (p.Ala208=)
9g.122381405C>GCA467190909PTGS1c.531C>G (p.Ala177=)
c.204C>G (p.Ala68=)
c.313-91C>G (n.313-91C>G)
c.456C>G (p.Ala152=)
c.387C>G (p.Ala129=)
n.625C>G
n.519+2832C>G
c.*376C>G (n.*376C>G)
c.304-91C>G (n.304-91C>G)
c.624C>G (p.Ala208=)
9g.122381405C>TCA467190910PTGS1c.531C>T (p.Ala177=)
c.204C>T (p.Ala68=)
c.313-91C>T (n.313-91C>T)
c.456C>T (p.Ala152=)
c.387C>T (p.Ala129=)
n.625C>T
n.519+2832C>T
c.*376C>T (n.*376C>T)
c.304-91C>T (n.304-91C>T)
c.624C>T (p.Ala208=)
9g.122381406C>ACA374780473PTGS1c.532C>A (p.Arg178Ser)
c.205C>A (p.Arg69Ser)
c.313-90C>A (n.313-90C>A)
c.457C>A (p.Arg153Ser)
c.388C>A (p.Arg130Ser)
n.626C>A
n.519+2833C>A
c.*377C>A (n.*377C>A)
c.304-90C>A (n.304-90C>A)
c.625C>A (p.Arg209Ser)
dbSNP gnomAD v2 gnomAD v4
9g.122381406C=CA1877496553PTGS1c.532C= (p.Arg178=)
c.205C= (p.Arg69=)
c.313-90C= (n.313-90C=)
c.457C= (p.Arg153=)
c.388C= (p.Arg130=)
n.626C=
n.519+2833C=
c.*377C= (n.*377C=)
c.304-90C= (n.304-90C=)
c.625C= (p.Arg209=)
9g.122381406C>GCA374780474PTGS1c.532C>G (p.Arg178Gly)
c.205C>G (p.Arg69Gly)
c.313-90C>G (n.313-90C>G)
c.457C>G (p.Arg153Gly)
c.388C>G (p.Arg130Gly)
n.626C>G
n.519+2833C>G
c.*377C>G (n.*377C>G)
c.304-90C>G (n.304-90C>G)
c.625C>G (p.Arg209Gly)
9g.122381406C>TCA5224841PTGS1c.532C>T (p.Arg178Cys)
c.205C>T (p.Arg69Cys)
c.313-90C>T (n.313-90C>T)
c.457C>T (p.Arg153Cys)
c.388C>T (p.Arg130Cys)
n.626C>T
n.519+2833C>T
c.*377C>T (n.*377C>T)
c.304-90C>T (n.304-90C>T)
c.625C>T (p.Arg209Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.122381407G>ACA5224842PTGS1c.533G>A (p.Arg178His)
c.206G>A (p.Arg69His)
c.313-89G>A (n.313-89G>A)
c.458G>A (p.Arg153His)
c.389G>A (p.Arg130His)
n.627G>A
n.519+2834G>A
c.*378G>A (n.*378G>A)
c.304-89G>A (n.304-89G>A)
c.626G>A (p.Arg209His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.122381407G>CCA374780479PTGS1c.533G>C (p.Arg178Pro)
c.206G>C (p.Arg69Pro)
c.313-89G>C (n.313-89G>C)
c.458G>C (p.Arg153Pro)
c.389G>C (p.Arg130Pro)
n.627G>C
n.519+2834G>C
c.*378G>C (n.*378G>C)
c.304-89G>C (n.304-89G>C)
c.626G>C (p.Arg209Pro)
9g.122381407G=CA1877496554PTGS1c.533G= (p.Arg178=)
c.206G= (p.Arg69=)
c.313-89G= (n.313-89G=)
c.458G= (p.Arg153=)
c.389G= (p.Arg130=)
n.627G=
n.519+2834G=
c.*378G= (n.*378G=)
c.304-89G= (n.304-89G=)
c.626G= (p.Arg209=)
9g.122381407G>TCA374780480PTGS1c.533G>T (p.Arg178Leu)
c.206G>T (p.Arg69Leu)
c.313-89G>T (n.313-89G>T)
c.458G>T (p.Arg153Leu)
c.389G>T (p.Arg130Leu)
n.627G>T
n.519+2834G>T
c.*378G>T (n.*378G>T)
c.304-89G>T (n.304-89G>T)
c.626G>T (p.Arg209Leu)
gnomAD v4
9g.122381408C>ACA467190911PTGS1c.534C>A (p.Arg178=)
c.207C>A (p.Arg69=)
c.313-88C>A (n.313-88C>A)
c.459C>A (p.Arg153=)
c.390C>A (p.Arg130=)
n.628C>A
n.519+2835C>A
c.*379C>A (n.*379C>A)
c.304-88C>A (n.304-88C>A)
c.627C>A (p.Arg209=)
9g.122381408C>GCA467190912PTGS1c.534C>G (p.Arg178=)
c.207C>G (p.Arg69=)
c.313-88C>G (n.313-88C>G)
c.459C>G (p.Arg153=)
c.390C>G (p.Arg130=)
n.628C>G
n.519+2835C>G
c.*379C>G (n.*379C>G)
c.304-88C>G (n.304-88C>G)
c.627C>G (p.Arg209=)
9g.122381408C>TCA467190913PTGS1c.534C>T (p.Arg178=)
c.207C>T (p.Arg69=)
c.313-88C>T (n.313-88C>T)
c.459C>T (p.Arg153=)
c.390C>T (p.Arg130=)
n.628C>T
n.519+2835C>T
c.*379C>T (n.*379C>T)
c.304-88C>T (n.304-88C>T)
c.627C>T (p.Arg209=)
9g.122381409C>ACA374780482PTGS1c.535C>A (p.Arg179Ser)
c.208C>A (p.Arg70Ser)
c.313-87C>A (n.313-87C>A)
c.460C>A (p.Arg154Ser)
c.391C>A (p.Arg131Ser)
n.629C>A
n.519+2836C>A
c.*380C>A (n.*380C>A)
c.304-87C>A (n.304-87C>A)
c.628C>A (p.Arg210Ser)
9g.122381409C=CA1877496555PTGS1c.535C= (p.Arg179=)
c.208C= (p.Arg70=)
c.313-87C= (n.313-87C=)
c.460C= (p.Arg154=)
c.391C= (p.Arg131=)
n.629C=
n.519+2836C=
c.*380C= (n.*380C=)
c.304-87C= (n.304-87C=)
c.628C= (p.Arg210=)
9g.122381409C>GCA374780484PTGS1c.535C>G (p.Arg179Gly)
c.208C>G (p.Arg70Gly)
c.313-87C>G (n.313-87C>G)
c.460C>G (p.Arg154Gly)
c.391C>G (p.Arg131Gly)
n.629C>G
n.519+2836C>G
c.*380C>G (n.*380C>G)
c.304-87C>G (n.304-87C>G)
c.628C>G (p.Arg210Gly)
9g.122381409C>TCA5224843PTGS1c.535C>T (p.Arg179Cys)
c.208C>T (p.Arg70Cys)
c.313-87C>T (n.313-87C>T)
c.460C>T (p.Arg154Cys)
c.391C>T (p.Arg131Cys)
n.629C>T
n.519+2836C>T
c.*380C>T (n.*380C>T)
c.304-87C>T (n.304-87C>T)
c.628C>T (p.Arg210Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.122381409_122381410insAGGACA590503346PTGS1c.535_536insAGGA (p.Arg179GlnfsTer12)
c.208_209insAGGA (p.Arg70GlnfsTer12)
c.313-87_313-86insAGGA (n.313-87_313-86insAGGA)
c.460_461insAGGA (p.Arg154GlnfsTer12)
c.391_392insAGGA (p.Arg131GlnfsTer12)
n.629_630insAGGA
n.519+2836_519+2837insAGGA
c.*380_*381insAGGA (n.*380_*381insAGGA)
c.304-87_304-86insAGGA (n.304-87_304-86insAGGA)
c.628_629insAGGA (p.Arg210GlnfsTer12)
dbSNP gnomAD v2 gnomAD v4
9g.122381410G>ACA5224844PTGS1c.536G>A (p.Arg179His)
c.209G>A (p.Arg70His)
c.313-86G>A (n.313-86G>A)
c.461G>A (p.Arg154His)
c.392G>A (p.Arg131His)
n.630G>A
n.519+2837G>A
c.*381G>A (n.*381G>A)
c.304-86G>A (n.304-86G>A)
c.629G>A (p.Arg210His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.122381410G>CCA374780486PTGS1c.536G>C (p.Arg179Pro)
c.209G>C (p.Arg70Pro)
c.313-86G>C (n.313-86G>C)
c.461G>C (p.Arg154Pro)
c.392G>C (p.Arg131Pro)
n.630G>C
n.519+2837G>C
c.*381G>C (n.*381G>C)
c.304-86G>C (n.304-86G>C)
c.629G>C (p.Arg210Pro)
9g.122381410G=CA1877496556PTGS1c.536G= (p.Arg179=)
c.209G= (p.Arg70=)
c.313-86G= (n.313-86G=)
c.461G= (p.Arg154=)
c.392G= (p.Arg131=)
n.630G=
n.519+2837G=
c.*381G= (n.*381G=)
c.304-86G= (n.304-86G=)
c.629G= (p.Arg210=)
9g.122381410G>TCA374780487PTGS1c.536G>T (p.Arg179Leu)
c.209G>T (p.Arg70Leu)
c.313-86G>T (n.313-86G>T)
c.461G>T (p.Arg154Leu)
c.392G>T (p.Arg131Leu)
n.630G>T
n.519+2837G>T
c.*381G>T (n.*381G>T)
c.304-86G>T (n.304-86G>T)
c.629G>T (p.Arg210Leu)
9g.122381411C>ACA467190914PTGS1c.537C>A (p.Arg179=)
c.210C>A (p.Arg70=)
c.313-85C>A (n.313-85C>A)
c.462C>A (p.Arg154=)
c.393C>A (p.Arg131=)
n.631C>A
n.519+2838C>A
c.*382C>A (n.*382C>A)
c.304-85C>A (n.304-85C>A)
c.630C>A (p.Arg210=)
9g.122381411C>GCA467190915PTGS1c.537C>G (p.Arg179=)
c.210C>G (p.Arg70=)
c.313-85C>G (n.313-85C>G)
c.462C>G (p.Arg154=)
c.393C>G (p.Arg131=)
n.631C>G
n.519+2838C>G
c.*382C>G (n.*382C>G)
c.304-85C>G (n.304-85C>G)
c.630C>G (p.Arg210=)
9g.122381411C>TCA467190916PTGS1c.537C>T (p.Arg179=)
c.210C>T (p.Arg70=)
c.313-85C>T (n.313-85C>T)
c.462C>T (p.Arg154=)
c.393C>T (p.Arg131=)
n.631C>T
n.519+2838C>T
c.*382C>T (n.*382C>T)
c.304-85C>T (n.304-85C>T)
c.630C>T (p.Arg210=)
gnomAD v4
9g.122381412T>ACA374780489PTGS1c.538T>A (p.Phe180Ile)
c.211T>A (p.Phe71Ile)
c.313-84T>A (n.313-84T>A)
c.463T>A (p.Phe155Ile)
c.394T>A (p.Phe132Ile)
n.632T>A
n.519+2839T>A
c.*383T>A (n.*383T>A)
c.304-84T>A (n.304-84T>A)
c.631T>A (p.Phe211Ile)
9g.122381412T>CCA374780490PTGS1c.538T>C (p.Phe180Leu)
c.211T>C (p.Phe71Leu)
c.313-84T>C (n.313-84T>C)
c.463T>C (p.Phe155Leu)
c.394T>C (p.Phe132Leu)
n.632T>C
n.519+2839T>C
c.*383T>C (n.*383T>C)
c.304-84T>C (n.304-84T>C)
c.631T>C (p.Phe211Leu)
9g.122381412T>GCA374780488PTGS1c.538T>G (p.Phe180Val)
c.211T>G (p.Phe71Val)
c.313-84T>G (n.313-84T>G)
c.463T>G (p.Phe155Val)
c.394T>G (p.Phe132Val)
n.632T>G
n.519+2839T>G
c.*383T>G (n.*383T>G)
c.304-84T>G (n.304-84T>G)
c.631T>G (p.Phe211Val)
9g.122381413T>ACA374780491PTGS1c.539T>A (p.Phe180Tyr)
c.212T>A (p.Phe71Tyr)
c.313-83T>A (n.313-83T>A)
c.464T>A (p.Phe155Tyr)
c.395T>A (p.Phe132Tyr)
n.633T>A
n.519+2840T>A
c.*384T>A (n.*384T>A)
c.304-83T>A (n.304-83T>A)
c.632T>A (p.Phe211Tyr)
9g.122381413T>CCA374780494PTGS1c.539T>C (p.Phe180Ser)
c.212T>C (p.Phe71Ser)
c.313-83T>C (n.313-83T>C)
c.464T>C (p.Phe155Ser)
c.395T>C (p.Phe132Ser)
n.633T>C
n.519+2840T>C
c.*384T>C (n.*384T>C)
c.304-83T>C (n.304-83T>C)
c.632T>C (p.Phe211Ser)
9g.122381413T>GCA374780496PTGS1c.539T>G (p.Phe180Cys)
c.212T>G (p.Phe71Cys)
c.313-83T>G (n.313-83T>G)
c.464T>G (p.Phe155Cys)
c.395T>G (p.Phe132Cys)
n.633T>G
n.519+2840T>G
c.*384T>G (n.*384T>G)
c.304-83T>G (n.304-83T>G)
c.632T>G (p.Phe211Cys)
9g.122381414C>ACA374780498PTGS1c.540C>A (p.Phe180Leu)
c.213C>A (p.Phe71Leu)
c.313-82C>A (n.313-82C>A)
c.465C>A (p.Phe155Leu)
c.396C>A (p.Phe132Leu)
n.634C>A
n.519+2841C>A
c.*385C>A (n.*385C>A)
c.304-82C>A (n.304-82C>A)
c.633C>A (p.Phe211Leu)
9g.122381414C=CA1877496557PTGS1c.540C= (p.Phe180=)
c.213C= (p.Phe71=)
c.313-82C= (n.313-82C=)
c.465C= (p.Phe155=)
c.396C= (p.Phe132=)
n.634C=
n.519+2841C=
c.*385C= (n.*385C=)
c.304-82C= (n.304-82C=)
c.633C= (p.Phe211=)
9g.122381414C>GCA5224845PTGS1c.540C>G (p.Phe180Leu)
c.213C>G (p.Phe71Leu)
c.313-82C>G (n.313-82C>G)
c.465C>G (p.Phe155Leu)
c.396C>G (p.Phe132Leu)
n.634C>G
n.519+2841C>G
c.*385C>G (n.*385C>G)
c.304-82C>G (n.304-82C>G)
c.633C>G (p.Phe211Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.122381414C>TCA467190917PTGS1c.540C>T (p.Phe180=)
c.213C>T (p.Phe71=)
c.313-82C>T (n.313-82C>T)
c.465C>T (p.Phe155=)
c.396C>T (p.Phe132=)
n.634C>T
n.519+2841C>T
c.*385C>T (n.*385C>T)
c.304-82C>T (n.304-82C>T)
c.633C>T (p.Phe211=)
dbSNP gnomAD v3 gnomAD v4
9g.122381415C>ACA374780502PTGS1c.541C>A (p.Leu181Met)
c.214C>A (p.Leu72Met)
c.313-81C>A (n.313-81C>A)
c.466C>A (p.Leu156Met)
c.397C>A (p.Leu133Met)
n.635C>A
n.519+2842C>A
c.*386C>A (n.*386C>A)
c.304-81C>A (n.304-81C>A)
c.634C>A (p.Leu212Met)
gnomAD v4
9g.122381415C=CA1877496558PTGS1c.541C= (p.Leu181=)
c.214C= (p.Leu72=)
c.313-81C= (n.313-81C=)
c.466C= (p.Leu156=)
c.397C= (p.Leu133=)
n.635C=
n.519+2842C=
c.*386C= (n.*386C=)
c.304-81C= (n.304-81C=)
c.634C= (p.Leu212=)
9g.122381415C>GCA374780500PTGS1c.541C>G (p.Leu181Val)
c.214C>G (p.Leu72Val)
c.313-81C>G (n.313-81C>G)
c.466C>G (p.Leu156Val)
c.397C>G (p.Leu133Val)
n.635C>G
n.519+2842C>G
c.*386C>G (n.*386C>G)
c.304-81C>G (n.304-81C>G)
c.634C>G (p.Leu212Val)
9g.122381415C>TCA467190918PTGS1c.541C>T (p.Leu181=)
c.214C>T (p.Leu72=)
c.313-81C>T (n.313-81C>T)
c.466C>T (p.Leu156=)
c.397C>T (p.Leu133=)
n.635C>T
n.519+2842C>T
c.*386C>T (n.*386C>T)
c.304-81C>T (n.304-81C>T)
c.634C>T (p.Leu212=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.122381416T>ACA374780504PTGS1c.542T>A (p.Leu181Gln)
c.215T>A (p.Leu72Gln)
c.313-80T>A (n.313-80T>A)
c.467T>A (p.Leu156Gln)
c.398T>A (p.Leu133Gln)
n.636T>A
n.519+2843T>A
c.*387T>A (n.*387T>A)
c.304-80T>A (n.304-80T>A)
c.635T>A (p.Leu212Gln)
9g.122381416T>CCA374780506PTGS1c.542T>C (p.Leu181Pro)
c.215T>C (p.Leu72Pro)
c.313-80T>C (n.313-80T>C)
c.467T>C (p.Leu156Pro)
c.398T>C (p.Leu133Pro)
n.636T>C
n.519+2843T>C
c.*387T>C (n.*387T>C)
c.304-80T>C (n.304-80T>C)
c.635T>C (p.Leu212Pro)
9g.122381416T>GCA374780511PTGS1c.542T>G (p.Leu181Arg)
c.215T>G (p.Leu72Arg)
c.313-80T>G (n.313-80T>G)
c.467T>G (p.Leu156Arg)
c.398T>G (p.Leu133Arg)
n.636T>G
n.519+2843T>G
c.*387T>G (n.*387T>G)
c.304-80T>G (n.304-80T>G)
c.635T>G (p.Leu212Arg)
9g.122381417G>ACA5224846PTGS1c.543G>A (p.Leu181=)
c.216G>A (p.Leu72=)
c.313-79G>A (n.313-79G>A)
c.468G>A (p.Leu156=)
c.399G>A (p.Leu133=)
n.637G>A
n.519+2844G>A
c.*388G>A (n.*388G>A)
c.304-79G>A (n.304-79G>A)
c.636G>A (p.Leu212=)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.122381417G>CCA467190919PTGS1c.543G>C (p.Leu181=)
c.216G>C (p.Leu72=)
c.313-79G>C (n.313-79G>C)
c.468G>C (p.Leu156=)
c.399G>C (p.Leu133=)
n.637G>C
n.519+2844G>C
c.*388G>C (n.*388G>C)
c.304-79G>C (n.304-79G>C)
c.636G>C (p.Leu212=)
9g.122381417G=CA1877496559PTGS1c.543G= (p.Leu181=)
c.216G= (p.Leu72=)
c.313-79G= (n.313-79G=)
c.468G= (p.Leu156=)
c.399G= (p.Leu133=)
n.637G=
n.519+2844G=
c.*388G= (n.*388G=)
c.304-79G= (n.304-79G=)
c.636G= (p.Leu212=)
9g.122381417G>TCA467190920PTGS1c.543G>T (p.Leu181=)
c.216G>T (p.Leu72=)
c.313-79G>T (n.313-79G>T)
c.468G>T (p.Leu156=)
c.399G>T (p.Leu133=)
n.637G>T
n.519+2844G>T
c.*388G>T (n.*388G>T)
c.304-79G>T (n.304-79G>T)
c.636G>T (p.Leu212=)
dbSNP
9g.122381418C>ACA374780514PTGS1c.544C>A (p.Leu182Ile)
c.217C>A (p.Leu73Ile)
c.313-78C>A (n.313-78C>A)
c.469C>A (p.Leu157Ile)
c.400C>A (p.Leu134Ile)
n.638C>A
n.519+2845C>A
c.*389C>A (n.*389C>A)
c.304-78C>A (n.304-78C>A)
c.637C>A (p.Leu213Ile)
9g.122381418C>GCA374780515PTGS1c.544C>G (p.Leu182Val)
c.217C>G (p.Leu73Val)
c.313-78C>G (n.313-78C>G)
c.469C>G (p.Leu157Val)
c.400C>G (p.Leu134Val)
n.638C>G
n.519+2845C>G
c.*389C>G (n.*389C>G)
c.304-78C>G (n.304-78C>G)
c.637C>G (p.Leu213Val)
gnomAD v4
9g.122381418C>TCA374780517PTGS1c.544C>T (p.Leu182Phe)
c.217C>T (p.Leu73Phe)
c.313-78C>T (n.313-78C>T)
c.469C>T (p.Leu157Phe)
c.400C>T (p.Leu134Phe)
n.638C>T
n.519+2845C>T
c.*389C>T (n.*389C>T)
c.304-78C>T (n.304-78C>T)
c.637C>T (p.Leu213Phe)
9g.122381419T>ACA374780522PTGS1c.545T>A (p.Leu182His)
c.218T>A (p.Leu73His)
c.313-77T>A (n.313-77T>A)
c.470T>A (p.Leu157His)
c.401T>A (p.Leu134His)
n.639T>A
n.519+2846T>A
c.*390T>A (n.*390T>A)
c.304-77T>A (n.304-77T>A)
c.638T>A (p.Leu213His)
9g.122381419T>CCA374780524PTGS1c.545T>C (p.Leu182Pro)
c.218T>C (p.Leu73Pro)
c.313-77T>C (n.313-77T>C)
c.470T>C (p.Leu157Pro)
c.401T>C (p.Leu134Pro)
n.639T>C
n.519+2846T>C
c.*390T>C (n.*390T>C)
c.304-77T>C (n.304-77T>C)
c.638T>C (p.Leu213Pro)
9g.122381419T>GCA374780520PTGS1c.545T>G (p.Leu182Arg)
c.218T>G (p.Leu73Arg)
c.313-77T>G (n.313-77T>G)
c.470T>G (p.Leu157Arg)
c.401T>G (p.Leu134Arg)
n.639T>G
n.519+2846T>G
c.*390T>G (n.*390T>G)
c.304-77T>G (n.304-77T>G)
c.638T>G (p.Leu213Arg)
9g.122381420C>ACA467190921PTGS1c.546C>A (p.Leu182=)
c.219C>A (p.Leu73=)
c.313-76C>A (n.313-76C>A)
c.471C>A (p.Leu157=)
c.402C>A (p.Leu134=)
n.640C>A
n.519+2847C>A
c.*391C>A (n.*391C>A)
c.304-76C>A (n.304-76C>A)
c.639C>A (p.Leu213=)
9g.122381420C>GCA467190923PTGS1c.546C>G (p.Leu182=)
c.219C>G (p.Leu73=)
c.313-76C>G (n.313-76C>G)
c.471C>G (p.Leu157=)
c.402C>G (p.Leu134=)
n.640C>G
n.519+2847C>G
c.*391C>G (n.*391C>G)
c.304-76C>G (n.304-76C>G)
c.639C>G (p.Leu213=)
gnomAD v4
9g.122381420C>TCA467190922PTGS1c.546C>T (p.Leu182=)
c.219C>T (p.Leu73=)
c.313-76C>T (n.313-76C>T)
c.471C>T (p.Leu157=)
c.402C>T (p.Leu134=)
n.640C>T
n.519+2847C>T
c.*391C>T (n.*391C>T)
c.304-76C>T (n.304-76C>T)
c.639C>T (p.Leu213=)
dbSNP gnomAD v3 gnomAD v4
9g.122381421A=CA1877496560PTGS1c.547A= (p.Arg183=)
c.220A= (p.Arg74=)
c.313-75A= (n.313-75A=)
c.472A= (p.Arg158=)
c.403A= (p.Arg135=)
n.641A=
n.519+2848A=
c.*392A= (n.*392A=)
c.304-75A= (n.304-75A=)
c.640A= (p.Arg214=)
9g.122381421A>CCA467190924PTGS1c.547A>C (p.Arg183=)
c.220A>C (p.Arg74=)
c.313-75A>C (n.313-75A>C)
c.472A>C (p.Arg158=)
c.403A>C (p.Arg135=)
n.641A>C
n.519+2848A>C
c.*392A>C (n.*392A>C)
c.304-75A>C (n.304-75A>C)
c.640A>C (p.Arg214=)
9g.122381421A>GCA374780526PTGS1c.547A>G (p.Arg183Gly)
c.220A>G (p.Arg74Gly)
c.313-75A>G (n.313-75A>G)
c.472A>G (p.Arg158Gly)
c.403A>G (p.Arg135Gly)
n.641A>G
n.519+2848A>G
c.*392A>G (n.*392A>G)
c.304-75A>G (n.304-75A>G)
c.640A>G (p.Arg214Gly)
9g.122381421A>TCA5224847PTGS1c.547A>T (p.Arg183Trp)
c.220A>T (p.Arg74Trp)
c.313-75A>T (n.313-75A>T)
c.472A>T (p.Arg158Trp)
c.403A>T (p.Arg135Trp)
n.641A>T
n.519+2848A>T
c.*392A>T (n.*392A>T)
c.304-75A>T (n.304-75A>T)
c.640A>T (p.Arg214Trp)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.122381422G>ACA374780528PTGS1c.548G>A (p.Arg183Lys)
c.221G>A (p.Arg74Lys)
c.313-74G>A (n.313-74G>A)
c.473G>A (p.Arg158Lys)
c.404G>A (p.Arg135Lys)
n.642G>A
n.519+2849G>A
c.*393G>A (n.*393G>A)
c.304-74G>A (n.304-74G>A)
c.641G>A (p.Arg214Lys)
9g.122381422G>CCA374780532PTGS1c.548G>C (p.Arg183Thr)
c.221G>C (p.Arg74Thr)
c.313-74G>C (n.313-74G>C)
c.473G>C (p.Arg158Thr)
c.404G>C (p.Arg135Thr)
n.642G>C
n.519+2849G>C
c.*393G>C (n.*393G>C)
c.304-74G>C (n.304-74G>C)
c.641G>C (p.Arg214Thr)
9g.122381422G>TCA374780530PTGS1c.548G>T (p.Arg183Met)
c.221G>T (p.Arg74Met)
c.313-74G>T (n.313-74G>T)
c.473G>T (p.Arg158Met)
c.404G>T (p.Arg135Met)
n.642G>T
n.519+2849G>T
c.*393G>T (n.*393G>T)
c.304-74G>T (n.304-74G>T)
c.641G>T (p.Arg214Met)
9g.122381423G>ACA467190925PTGS1c.549G>A (p.Arg183=)
c.222G>A (p.Arg74=)
c.313-73G>A (n.313-73G>A)
c.474G>A (p.Arg158=)
c.405G>A (p.Arg135=)
n.643G>A
n.519+2850G>A
c.*394G>A (n.*394G>A)
c.304-73G>A (n.304-73G>A)
c.642G>A (p.Arg214=)
9g.122381423G>CCA374780534PTGS1c.549G>C (p.Arg183Ser)
c.222G>C (p.Arg74Ser)
c.313-73G>C (n.313-73G>C)
c.474G>C (p.Arg158Ser)
c.405G>C (p.Arg135Ser)
n.643G>C
n.519+2850G>C
c.*394G>C (n.*394G>C)
c.304-73G>C (n.304-73G>C)
c.642G>C (p.Arg214Ser)
9g.122381423G>TCA374780536PTGS1c.549G>T (p.Arg183Ser)
c.222G>T (p.Arg74Ser)
c.313-73G>T (n.313-73G>T)
c.474G>T (p.Arg158Ser)
c.405G>T (p.Arg135Ser)
n.643G>T
n.519+2850G>T
c.*394G>T (n.*394G>T)
c.304-73G>T (n.304-73G>T)
c.642G>T (p.Arg214Ser)
9g.122381424A>CCA467190926PTGS1c.550A>C (p.Arg184=)
c.223A>C (p.Arg75=)
c.313-72A>C (n.313-72A>C)
c.475A>C (p.Arg159=)
c.406A>C (p.Arg136=)
n.644A>C
n.519+2851A>C
c.*395A>C (n.*395A>C)
c.304-72A>C (n.304-72A>C)
c.643A>C (p.Arg215=)
9g.122381424A>GCA374780537PTGS1c.550A>G (p.Arg184Gly)
c.223A>G (p.Arg75Gly)
c.313-72A>G (n.313-72A>G)
c.475A>G (p.Arg159Gly)
c.406A>G (p.Arg136Gly)
n.644A>G
n.519+2851A>G
c.*395A>G (n.*395A>G)
c.304-72A>G (n.304-72A>G)
c.643A>G (p.Arg215Gly)
9g.122381424A>TCA374780539PTGS1c.550A>T (p.Arg184Trp)
c.223A>T (p.Arg75Trp)
c.313-72A>T (n.313-72A>T)
c.475A>T (p.Arg159Trp)
c.406A>T (p.Arg136Trp)
n.644A>T
n.519+2851A>T
c.*395A>T (n.*395A>T)
c.304-72A>T (n.304-72A>T)
c.643A>T (p.Arg215Trp)
9g.122381425G>ACA374780540PTGS1c.551G>A (p.Arg184Lys)
c.224G>A (p.Arg75Lys)
c.313-71G>A (n.313-71G>A)
c.476G>A (p.Arg159Lys)
c.407G>A (p.Arg136Lys)
n.645G>A
n.519+2852G>A
c.*396G>A (n.*396G>A)
c.304-71G>A (n.304-71G>A)
c.644G>A (p.Arg215Lys)
dbSNP gnomAD v3 gnomAD v4
9g.122381425G>CCA374780541PTGS1c.551G>C (p.Arg184Thr)
c.224G>C (p.Arg75Thr)
c.313-71G>C (n.313-71G>C)
c.476G>C (p.Arg159Thr)
c.407G>C (p.Arg136Thr)
n.645G>C
n.519+2852G>C
c.*396G>C (n.*396G>C)
c.304-71G>C (n.304-71G>C)
c.644G>C (p.Arg215Thr)
9g.122381425G=CA1877496561PTGS1c.551G= (p.Arg184=)
c.224G= (p.Arg75=)
c.313-71G= (n.313-71G=)
c.476G= (p.Arg159=)
c.407G= (p.Arg136=)
n.645G=
n.519+2852G=
c.*396G= (n.*396G=)
c.304-71G= (n.304-71G=)
c.644G= (p.Arg215=)
9g.122381425G>TCA374780543PTGS1c.551G>T (p.Arg184Met)
c.224G>T (p.Arg75Met)
c.313-71G>T (n.313-71G>T)
c.476G>T (p.Arg159Met)
c.407G>T (p.Arg136Met)
n.645G>T
n.519+2852G>T
c.*396G>T (n.*396G>T)
c.304-71G>T (n.304-71G>T)
c.644G>T (p.Arg215Met)
9g.122381426G>ACA467190927PTGS1c.552G>A (p.Arg184=)
c.225G>A (p.Arg75=)
c.313-70G>A (n.313-70G>A)
c.477G>A (p.Arg159=)
c.408G>A (p.Arg136=)
n.646G>A
n.519+2853G>A
c.*397G>A (n.*397G>A)
c.304-70G>A (n.304-70G>A)
c.645G>A (p.Arg215=)
9g.122381426G>CCA374780545PTGS1c.552G>C (p.Arg184Ser)
c.225G>C (p.Arg75Ser)
c.313-70G>C (n.313-70G>C)
c.477G>C (p.Arg159Ser)
c.408G>C (p.Arg136Ser)
n.646G>C
n.519+2853G>C
c.*397G>C (n.*397G>C)
c.304-70G>C (n.304-70G>C)
c.645G>C (p.Arg215Ser)
9g.122381426G>TCA374780546PTGS1c.552G>T (p.Arg184Ser)
c.225G>T (p.Arg75Ser)
c.313-70G>T (n.313-70G>T)
c.477G>T (p.Arg159Ser)
c.408G>T (p.Arg136Ser)
n.646G>T
n.519+2853G>T
c.*397G>T (n.*397G>T)
c.304-70G>T (n.304-70G>T)
c.645G>T (p.Arg215Ser)
9g.122381426_122381427dupCA2691551908PTGS1c.552_553dup (p.Lys185ArgfsTer?)
c.225_226dup (p.Lys76ArgfsTer?)
c.313-70_313-69dup (n.313-70_313-69dup)
c.477_478dup (p.Lys160ArgfsTer?)
c.408_409dup (p.Lys137ArgfsTer?)
n.646_647dup
n.519+2853_519+2854dup
c.*397_*398dup (n.*397_*398dup)
c.304-70_304-69dup (n.304-70_304-69dup)
c.645_646dup (p.Lys216ArgfsTer?)
gnomAD v4
9g.122381427A>CCA374780548PTGS1c.553A>C (p.Lys185Gln)
c.226A>C (p.Lys76Gln)
c.313-69A>C (n.313-69A>C)
c.478A>C (p.Lys160Gln)
c.409A>C (p.Lys137Gln)
n.647A>C
n.519+2854A>C
c.*398A>C (n.*398A>C)
c.304-69A>C (n.304-69A>C)
c.646A>C (p.Lys216Gln)
9g.122381427A>GCA374780550PTGS1c.553A>G (p.Lys185Glu)
c.226A>G (p.Lys76Glu)
c.313-69A>G (n.313-69A>G)
c.478A>G (p.Lys160Glu)
c.409A>G (p.Lys137Glu)
n.647A>G
n.519+2854A>G
c.*398A>G (n.*398A>G)
c.304-69A>G (n.304-69A>G)
c.646A>G (p.Lys216Glu)
9g.122381427A>TCA374780552PTGS1c.553A>T (p.Lys185Ter)
c.226A>T (p.Lys76Ter)
c.313-69A>T (n.313-69A>T)
c.478A>T (p.Lys160Ter)
c.409A>T (p.Lys137Ter)
n.647A>T
n.519+2854A>T
c.*398A>T (n.*398A>T)
c.304-69A>T (n.304-69A>T)
c.646A>T (p.Lys216Ter)
9g.122381428A=CA1877496562PTGS1c.554A= (p.Lys185=)
c.227A= (p.Lys76=)
c.313-68A= (n.313-68A=)
c.479A= (p.Lys160=)
c.410A= (p.Lys137=)
n.648A=
n.519+2855A=
c.*399A= (n.*399A=)
c.304-68A= (n.304-68A=)
c.647A= (p.Lys216=)
9g.122381428A>CCA5224848PTGS1c.554A>C (p.Lys185Thr)
c.227A>C (p.Lys76Thr)
c.313-68A>C (n.313-68A>C)
c.479A>C (p.Lys160Thr)
c.410A>C (p.Lys137Thr)
n.648A>C
n.519+2855A>C
c.*399A>C (n.*399A>C)
c.304-68A>C (n.304-68A>C)
c.647A>C (p.Lys216Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.122381428A>GCA374780557PTGS1c.554A>G (p.Lys185Arg)
c.227A>G (p.Lys76Arg)
c.313-68A>G (n.313-68A>G)
c.479A>G (p.Lys160Arg)
c.410A>G (p.Lys137Arg)
n.648A>G
n.519+2855A>G
c.*399A>G (n.*399A>G)
c.304-68A>G (n.304-68A>G)
c.647A>G (p.Lys216Arg)
gnomAD v4
9g.122381428A>TCA374780554PTGS1c.554A>T (p.Lys185Met)
c.227A>T (p.Lys76Met)
c.313-68A>T (n.313-68A>T)
c.479A>T (p.Lys160Met)
c.410A>T (p.Lys137Met)
n.648A>T
n.519+2855A>T
c.*399A>T (n.*399A>T)
c.304-68A>T (n.304-68A>T)
c.647A>T (p.Lys216Met)
9g.122381429G>ACA467190928PTGS1c.555G>A (p.Lys185=)
c.228G>A (p.Lys76=)
c.313-67G>A (n.313-67G>A)
c.480G>A (p.Lys160=)
c.411G>A (p.Lys137=)
n.649G>A
n.519+2856G>A
c.*400G>A (n.*400G>A)
c.304-67G>A (n.304-67G>A)
c.648G>A (p.Lys216=)
gnomAD v4
9g.122381429G>CCA374780561PTGS1c.555G>C (p.Lys185Asn)
c.228G>C (p.Lys76Asn)
c.313-67G>C (n.313-67G>C)
c.480G>C (p.Lys160Asn)
c.411G>C (p.Lys137Asn)
n.649G>C
n.519+2856G>C
c.*400G>C (n.*400G>C)
c.304-67G>C (n.304-67G>C)
c.648G>C (p.Lys216Asn)
9g.122381429G>TCA374780564PTGS1c.555G>T (p.Lys185Asn)
c.228G>T (p.Lys76Asn)
c.313-67G>T (n.313-67G>T)
c.480G>T (p.Lys160Asn)
c.411G>T (p.Lys137Asn)
n.649G>T
n.519+2856G>T
c.*400G>T (n.*400G>T)
c.304-67G>T (n.304-67G>T)
c.648G>T (p.Lys216Asn)
9g.122381430T>ACA374780566PTGS1c.556T>A (p.Phe186Ile)
c.229T>A (p.Phe77Ile)
c.313-66T>A (n.313-66T>A)
c.481T>A (p.Phe161Ile)
c.412T>A (p.Phe138Ile)
n.650T>A
n.519+2857T>A
c.*401T>A (n.*401T>A)
c.304-66T>A (n.304-66T>A)
c.649T>A (p.Phe217Ile)
9g.122381430T>CCA374780568PTGS1c.556T>C (p.Phe186Leu)
c.229T>C (p.Phe77Leu)
c.313-66T>C (n.313-66T>C)
c.481T>C (p.Phe161Leu)
c.412T>C (p.Phe138Leu)
n.650T>C
n.519+2857T>C
c.*401T>C (n.*401T>C)
c.304-66T>C (n.304-66T>C)
c.649T>C (p.Phe217Leu)
9g.122381430T>GCA374780569PTGS1c.556T>G (p.Phe186Val)
c.229T>G (p.Phe77Val)
c.313-66T>G (n.313-66T>G)
c.481T>G (p.Phe161Val)
c.412T>G (p.Phe138Val)
n.650T>G
n.519+2857T>G
c.*401T>G (n.*401T>G)
c.304-66T>G (n.304-66T>G)
c.649T>G (p.Phe217Val)
9g.122381431T>ACA374780571PTGS1c.557T>A (p.Phe186Tyr)
c.230T>A (p.Phe77Tyr)
c.313-65T>A (n.313-65T>A)
c.482T>A (p.Phe161Tyr)
c.413T>A (p.Phe138Tyr)
n.651T>A
n.519+2858T>A
c.*402T>A (n.*402T>A)
c.304-65T>A (n.304-65T>A)
c.650T>A (p.Phe217Tyr)
9g.122381431T>CCA374780574PTGS1c.557T>C (p.Phe186Ser)
c.230T>C (p.Phe77Ser)
c.313-65T>C (n.313-65T>C)
c.482T>C (p.Phe161Ser)
c.413T>C (p.Phe138Ser)
n.651T>C
n.519+2858T>C
c.*402T>C (n.*402T>C)
c.304-65T>C (n.304-65T>C)
c.650T>C (p.Phe217Ser)
gnomAD v4
9g.122381431T>GCA374780580PTGS1c.557T>G (p.Phe186Cys)
c.230T>G (p.Phe77Cys)
c.313-65T>G (n.313-65T>G)
c.482T>G (p.Phe161Cys)
c.413T>G (p.Phe138Cys)
n.651T>G
n.519+2858T>G
c.*402T>G (n.*402T>G)
c.304-65T>G (n.304-65T>G)
c.650T>G (p.Phe217Cys)
9g.122381432C>ACA374780588PTGS1c.558C>A (p.Phe186Leu)
c.231C>A (p.Phe77Leu)
c.313-64C>A (n.313-64C>A)
c.483C>A (p.Phe161Leu)
c.414C>A (p.Phe138Leu)
n.652C>A
n.519+2859C>A
c.*403C>A (n.*403C>A)
c.304-64C>A (n.304-64C>A)
c.651C>A (p.Phe217Leu)
9g.122381432C>GCA374780592PTGS1c.558C>G (p.Phe186Leu)
c.231C>G (p.Phe77Leu)
c.313-64C>G (n.313-64C>G)
c.483C>G (p.Phe161Leu)
c.414C>G (p.Phe138Leu)
n.652C>G
n.519+2859C>G
c.*403C>G (n.*403C>G)
c.304-64C>G (n.304-64C>G)
c.651C>G (p.Phe217Leu)
9g.122381432C>TCA467190929PTGS1c.558C>T (p.Phe186=)
c.231C>T (p.Phe77=)
c.313-64C>T (n.313-64C>T)
c.483C>T (p.Phe161=)
c.414C>T (p.Phe138=)
n.652C>T
n.519+2859C>T
c.*403C>T (n.*403C>T)
c.304-64C>T (n.304-64C>T)
c.651C>T (p.Phe217=)
9g.122381433A>CCA374780600PTGS1c.559A>C (p.Ile187Leu)
c.232A>C (p.Ile78Leu)
c.313-63A>C (n.313-63A>C)
c.484A>C (p.Ile162Leu)
c.415A>C (p.Ile139Leu)
n.653A>C
n.519+2860A>C
c.*404A>C (n.*404A>C)
c.304-63A>C (n.304-63A>C)
c.652A>C (p.Ile218Leu)
9g.122381433A>GCA374780602PTGS1c.559A>G (p.Ile187Val)
c.232A>G (p.Ile78Val)
c.313-63A>G (n.313-63A>G)
c.484A>G (p.Ile162Val)
c.415A>G (p.Ile139Val)
n.653A>G
n.519+2860A>G
c.*404A>G (n.*404A>G)
c.304-63A>G (n.304-63A>G)
c.652A>G (p.Ile218Val)
9g.122381433A>TCA374780594PTGS1c.559A>T (p.Ile187Leu)
c.232A>T (p.Ile78Leu)
c.313-63A>T (n.313-63A>T)
c.484A>T (p.Ile162Leu)
c.415A>T (p.Ile139Leu)
n.653A>T
n.519+2860A>T
c.*404A>T (n.*404A>T)
c.304-63A>T (n.304-63A>T)
c.652A>T (p.Ile218Leu)
9g.122381434T>ACA374780605PTGS1c.560T>A (p.Ile187Lys)
c.233T>A (p.Ile78Lys)
c.313-62T>A (n.313-62T>A)
c.485T>A (p.Ile162Lys)
c.416T>A (p.Ile139Lys)
n.654T>A
n.519+2861T>A
c.*405T>A (n.*405T>A)
c.304-62T>A (n.304-62T>A)
c.653T>A (p.Ile218Lys)
9g.122381434T>CCA374780607PTGS1c.560T>C (p.Ile187Thr)
c.233T>C (p.Ile78Thr)
c.313-62T>C (n.313-62T>C)
c.485T>C (p.Ile162Thr)
c.416T>C (p.Ile139Thr)
n.654T>C
n.519+2861T>C
c.*405T>C (n.*405T>C)
c.304-62T>C (n.304-62T>C)
c.653T>C (p.Ile218Thr)
gnomAD v4
9g.122381434T>GCA374780611PTGS1c.560T>G (p.Ile187Arg)
c.233T>G (p.Ile78Arg)
c.313-62T>G (n.313-62T>G)
c.485T>G (p.Ile162Arg)
c.416T>G (p.Ile139Arg)
n.654T>G
n.519+2861T>G
c.*405T>G (n.*405T>G)
c.304-62T>G (n.304-62T>G)
c.653T>G (p.Ile218Arg)
9g.122381435A=CA1877496563PTGS1c.561A= (p.Ile187=)
c.234A= (p.Ile78=)
c.313-61A= (n.313-61A=)
c.486A= (p.Ile162=)
c.417A= (p.Ile139=)
n.655A=
n.519+2862A=
c.*406A= (n.*406A=)
c.304-61A= (n.304-61A=)
c.654A= (p.Ile218=)
9g.122381435A>CCA467190930PTGS1c.561A>C (p.Ile187=)
c.234A>C (p.Ile78=)
c.313-61A>C (n.313-61A>C)
c.486A>C (p.Ile162=)
c.417A>C (p.Ile139=)
n.655A>C
n.519+2862A>C
c.*406A>C (n.*406A>C)
c.304-61A>C (n.304-61A>C)
c.654A>C (p.Ile218=)
9g.122381435A>GCA374780614PTGS1c.561A>G (p.Ile187Met)
c.234A>G (p.Ile78Met)
c.313-61A>G (n.313-61A>G)
c.486A>G (p.Ile162Met)
c.417A>G (p.Ile139Met)
n.655A>G
n.519+2862A>G
c.*406A>G (n.*406A>G)
c.304-61A>G (n.304-61A>G)
c.654A>G (p.Ile218Met)
dbSNP gnomAD v4
9g.122381435A>TCA467190931PTGS1c.561A>T (p.Ile187=)
c.234A>T (p.Ile78=)
c.313-61A>T (n.313-61A>T)
c.486A>T (p.Ile162=)
c.417A>T (p.Ile139=)
n.655A>T
n.519+2862A>T
c.*406A>T (n.*406A>T)
c.304-61A>T (n.304-61A>T)
c.654A>T (p.Ile218=)
9g.122381436C>ACA374780617PTGS1c.562C>A (p.Pro188Thr)
c.235C>A (p.Pro79Thr)
c.313-60C>A (n.313-60C>A)
c.487C>A (p.Pro163Thr)
c.418C>A (p.Pro140Thr)
n.656C>A
n.519+2863C>A
c.*407C>A (n.*407C>A)
c.304-60C>A (n.304-60C>A)
c.655C>A (p.Pro219Thr)
9g.122381436C=CA1877496564PTGS1c.562C= (p.Pro188=)
c.235C= (p.Pro79=)
c.313-60C= (n.313-60C=)
c.487C= (p.Pro163=)
c.418C= (p.Pro140=)
n.656C=
n.519+2863C=
c.*407C= (n.*407C=)
c.304-60C= (n.304-60C=)
c.655C= (p.Pro219=)
9g.122381436C>GCA374780619PTGS1c.562C>G (p.Pro188Ala)
c.235C>G (p.Pro79Ala)
c.313-60C>G (n.313-60C>G)
c.487C>G (p.Pro163Ala)
c.418C>G (p.Pro140Ala)
n.656C>G
n.519+2863C>G
c.*407C>G (n.*407C>G)
c.304-60C>G (n.304-60C>G)
c.655C>G (p.Pro219Ala)
dbSNP gnomAD v2 gnomAD v4
9g.122381436C>TCA374780622PTGS1c.562C>T (p.Pro188Ser)
c.235C>T (p.Pro79Ser)
c.313-60C>T (n.313-60C>T)
c.487C>T (p.Pro163Ser)
c.418C>T (p.Pro140Ser)
n.656C>T
n.519+2863C>T
c.*407C>T (n.*407C>T)
c.304-60C>T (n.304-60C>T)
c.655C>T (p.Pro219Ser)
dbSNP gnomAD v4
9g.122381437C>ACA374780625PTGS1c.563C>A (p.Pro188His)
c.236C>A (p.Pro79His)
c.313-59C>A (n.313-59C>A)
c.488C>A (p.Pro163His)
c.419C>A (p.Pro140His)
n.657C>A
n.519+2864C>A
c.*408C>A (n.*408C>A)
c.304-59C>A (n.304-59C>A)
c.656C>A (p.Pro219His)
9g.122381437C=CA1877496565PTGS1c.563C= (p.Pro188=)
c.236C= (p.Pro79=)
c.313-59C= (n.313-59C=)
c.488C= (p.Pro163=)
c.419C= (p.Pro140=)
n.657C=
n.519+2864C=
c.*408C= (n.*408C=)
c.304-59C= (n.304-59C=)
c.656C= (p.Pro219=)
9g.122381437C>GCA374780627PTGS1c.563C>G (p.Pro188Arg)
c.236C>G (p.Pro79Arg)
c.313-59C>G (n.313-59C>G)
c.488C>G (p.Pro163Arg)
c.419C>G (p.Pro140Arg)
n.657C>G
n.519+2864C>G
c.*408C>G (n.*408C>G)
c.304-59C>G (n.304-59C>G)
c.656C>G (p.Pro219Arg)
dbSNP gnomAD v2 gnomAD v4
9g.122381437C>TCA374780629PTGS1c.563C>T (p.Pro188Leu)
c.236C>T (p.Pro79Leu)
c.313-59C>T (n.313-59C>T)
c.488C>T (p.Pro163Leu)
c.419C>T (p.Pro140Leu)
n.657C>T
n.519+2864C>T
c.*408C>T (n.*408C>T)
c.304-59C>T (n.304-59C>T)
c.656C>T (p.Pro219Leu)
9g.122381438T>ACA467190932PTGS1c.564T>A (p.Pro188=)
c.237T>A (p.Pro79=)
c.313-58T>A (n.313-58T>A)
c.489T>A (p.Pro163=)
c.420T>A (p.Pro140=)
n.658T>A
n.519+2865T>A
c.*409T>A (n.*409T>A)
c.304-58T>A (n.304-58T>A)
c.657T>A (p.Pro219=)
9g.122381438T>CCA467190933PTGS1c.564T>C (p.Pro188=)
c.237T>C (p.Pro79=)
c.313-58T>C (n.313-58T>C)
c.489T>C (p.Pro163=)
c.420T>C (p.Pro140=)
n.658T>C
n.519+2865T>C
c.*409T>C (n.*409T>C)
c.304-58T>C (n.304-58T>C)
c.657T>C (p.Pro219=)
9g.122381438T>GCA467190934PTGS1c.564T>G (p.Pro188=)
c.237T>G (p.Pro79=)
c.313-58T>G (n.313-58T>G)
c.489T>G (p.Pro163=)
c.420T>G (p.Pro140=)
n.658T>G
n.519+2865T>G
c.*409T>G (n.*409T>G)
c.304-58T>G (n.304-58T>G)
c.657T>G (p.Pro219=)
9g.122381439G>ACA374780631PTGS1c.565G>A (p.Asp189Asn)
c.238G>A (p.Asp80Asn)
c.313-57G>A (n.313-57G>A)
c.490G>A (p.Asp164Asn)
c.421G>A (p.Asp141Asn)
n.659G>A
n.519+2866G>A
c.*410G>A (n.*410G>A)
c.304-57G>A (n.304-57G>A)
c.658G>A (p.Asp220Asn)
9g.122381439G>CCA374780634PTGS1c.565G>C (p.Asp189His)
c.238G>C (p.Asp80His)
c.313-57G>C (n.313-57G>C)
c.490G>C (p.Asp164His)
c.421G>C (p.Asp141His)
n.659G>C
n.519+2866G>C
c.*410G>C (n.*410G>C)
c.304-57G>C (n.304-57G>C)
c.658G>C (p.Asp220His)
9g.122381439G>TCA374780636PTGS1c.565G>T (p.Asp189Tyr)
c.238G>T (p.Asp80Tyr)
c.313-57G>T (n.313-57G>T)
c.490G>T (p.Asp164Tyr)
c.421G>T (p.Asp141Tyr)
n.659G>T
n.519+2866G>T
c.*410G>T (n.*410G>T)
c.304-57G>T (n.304-57G>T)
c.658G>T (p.Asp220Tyr)
9g.122381440A>CCA374780642PTGS1c.566A>C (p.Asp189Ala)
c.239A>C (p.Asp80Ala)
c.313-56A>C (n.313-56A>C)
c.491A>C (p.Asp164Ala)
c.422A>C (p.Asp141Ala)
n.660A>C
n.519+2867A>C
c.*411A>C (n.*411A>C)
c.304-56A>C (n.304-56A>C)
c.659A>C (p.Asp220Ala)
9g.122381440A>GCA374780641PTGS1c.566A>G (p.Asp189Gly)
c.239A>G (p.Asp80Gly)
c.313-56A>G (n.313-56A>G)
c.491A>G (p.Asp164Gly)
c.422A>G (p.Asp141Gly)
n.660A>G
n.519+2867A>G
c.*411A>G (n.*411A>G)
c.304-56A>G (n.304-56A>G)
c.659A>G (p.Asp220Gly)
9g.122381440A>TCA374780639PTGS1c.566A>T (p.Asp189Val)
c.239A>T (p.Asp80Val)
c.313-56A>T (n.313-56A>T)
c.491A>T (p.Asp164Val)
c.422A>T (p.Asp141Val)
n.660A>T
n.519+2867A>T
c.*411A>T (n.*411A>T)
c.304-56A>T (n.304-56A>T)
c.659A>T (p.Asp220Val)
9g.122381441C>ACA199478771PTGS1c.567C>A (p.Asp189Glu)
c.240C>A (p.Asp80Glu)
c.313-55C>A (n.313-55C>A)
c.492C>A (p.Asp164Glu)
c.423C>A (p.Asp141Glu)
n.661C>A
n.519+2868C>A
c.*412C>A (n.*412C>A)
c.304-55C>A (n.304-55C>A)
c.660C>A (p.Asp220Glu)
dbSNP gnomAD v4
9g.122381441C=CA1877496566PTGS1c.567C= (p.Asp189=)
c.240C= (p.Asp80=)
c.313-55C= (n.313-55C=)
c.492C= (p.Asp164=)
c.423C= (p.Asp141=)
n.661C=
n.519+2868C=
c.*412C= (n.*412C=)
c.304-55C= (n.304-55C=)
c.660C= (p.Asp220=)
9g.122381441C>GCA374780647PTGS1c.567C>G (p.Asp189Glu)
c.240C>G (p.Asp80Glu)
c.313-55C>G (n.313-55C>G)
c.492C>G (p.Asp164Glu)
c.423C>G (p.Asp141Glu)
n.661C>G
n.519+2868C>G
c.*412C>G (n.*412C>G)
c.304-55C>G (n.304-55C>G)
c.660C>G (p.Asp220Glu)
dbSNP
9g.122381441C>TCA467190935PTGS1c.567C>T (p.Asp189=)
c.240C>T (p.Asp80=)
c.313-55C>T (n.313-55C>T)
c.492C>T (p.Asp164=)
c.423C>T (p.Asp141=)
n.661C>T
n.519+2868C>T
c.*412C>T (n.*412C>T)
c.304-55C>T (n.304-55C>T)
c.660C>T (p.Asp220=)
dbSNP gnomAD v2 gnomAD v4
9g.122381442C>ACA5224849PTGS1c.568C>A (p.Pro190Thr)
c.241C>A (p.Pro81Thr)
c.313-54C>A (n.313-54C>A)
c.493C>A (p.Pro165Thr)
c.424C>A (p.Pro142Thr)
n.662C>A
n.519+2869C>A
c.*413C>A (n.*413C>A)
c.304-54C>A (n.304-54C>A)
c.661C>A (p.Pro221Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.122381442C=CA1877496567PTGS1c.568C= (p.Pro190=)
c.241C= (p.Pro81=)
c.313-54C= (n.313-54C=)
c.493C= (p.Pro165=)
c.424C= (p.Pro142=)
n.662C=
n.519+2869C=
c.*413C= (n.*413C=)
c.304-54C= (n.304-54C=)
c.661C= (p.Pro221=)
9g.122381442C>GCA374780651PTGS1c.568C>G (p.Pro190Ala)
c.241C>G (p.Pro81Ala)
c.313-54C>G (n.313-54C>G)
c.493C>G (p.Pro165Ala)
c.424C>G (p.Pro142Ala)
n.662C>G
n.519+2869C>G
c.*413C>G (n.*413C>G)
c.304-54C>G (n.304-54C>G)
c.661C>G (p.Pro221Ala)
9g.122381442C>TCA374780654PTGS1c.568C>T (p.Pro190Ser)
c.241C>T (p.Pro81Ser)
c.313-54C>T (n.313-54C>T)
c.493C>T (p.Pro165Ser)
c.424C>T (p.Pro142Ser)
n.662C>T
n.519+2869C>T
c.*413C>T (n.*413C>T)
c.304-54C>T (n.304-54C>T)
c.661C>T (p.Pro221Ser)
gnomAD v4
9g.122381443C>ACA374780656PTGS1c.569C>A (p.Pro190His)
c.242C>A (p.Pro81His)
c.313-53C>A (n.313-53C>A)
c.494C>A (p.Pro165His)
c.425C>A (p.Pro142His)
n.663C>A
n.519+2870C>A
c.*414C>A (n.*414C>A)
c.304-53C>A (n.304-53C>A)
c.662C>A (p.Pro221His)
9g.122381443C>GCA374780659PTGS1c.569C>G (p.Pro190Arg)
c.242C>G (p.Pro81Arg)
c.313-53C>G (n.313-53C>G)
c.494C>G (p.Pro165Arg)
c.425C>G (p.Pro142Arg)
n.663C>G
n.519+2870C>G
c.*414C>G (n.*414C>G)
c.304-53C>G (n.304-53C>G)
c.662C>G (p.Pro221Arg)
9g.122381443C>TCA374780662PTGS1c.569C>T (p.Pro190Leu)
c.242C>T (p.Pro81Leu)
c.313-53C>T (n.313-53C>T)
c.494C>T (p.Pro165Leu)
c.425C>T (p.Pro142Leu)
n.663C>T
n.519+2870C>T
c.*414C>T (n.*414C>T)
c.304-53C>T (n.304-53C>T)
c.662C>T (p.Pro221Leu)
9g.122381444C>ACA467190937PTGS1c.570C>A (p.Pro190=)
c.243C>A (p.Pro81=)
c.313-52C>A (n.313-52C>A)
c.495C>A (p.Pro165=)
c.426C>A (p.Pro142=)
n.664C>A
n.519+2871C>A
c.*415C>A (n.*415C>A)
c.304-52C>A (n.304-52C>A)
c.663C>A (p.Pro221=)
9g.122381444C=CA1877496568PTGS1c.570C= (p.Pro190=)
c.243C= (p.Pro81=)
c.313-52C= (n.313-52C=)
c.495C= (p.Pro165=)
c.426C= (p.Pro142=)
n.664C=
n.519+2871C=
c.*415C= (n.*415C=)
c.304-52C= (n.304-52C=)
c.663C= (p.Pro221=)
9g.122381444C>GCA5224850PTGS1c.570C>G (p.Pro190=)
c.243C>G (p.Pro81=)
c.313-52C>G (n.313-52C>G)
c.495C>G (p.Pro165=)
c.426C>G (p.Pro142=)
n.664C>G
n.519+2871C>G
c.*415C>G (n.*415C>G)
c.304-52C>G (n.304-52C>G)
c.663C>G (p.Pro221=)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.122381444C>TCA467190936PTGS1c.570C>T (p.Pro190=)
c.243C>T (p.Pro81=)
c.313-52C>T (n.313-52C>T)
c.495C>T (p.Pro165=)
c.426C>T (p.Pro142=)
n.664C>T
n.519+2871C>T
c.*415C>T (n.*415C>T)
c.304-52C>T (n.304-52C>T)
c.663C>T (p.Pro221=)
dbSNP gnomAD v4
9g.122381445C>ACA5224851PTGS1c.571C>A (p.Gln191Lys)
c.244C>A (p.Gln82Lys)
c.313-51C>A (n.313-51C>A)
c.496C>A (p.Gln166Lys)
c.427C>A (p.Gln143Lys)
n.665C>A
n.519+2872C>A
c.*416C>A (n.*416C>A)
c.304-51C>A (n.304-51C>A)
c.664C>A (p.Gln222Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.122381445C=CA1877496569PTGS1c.571C= (p.Gln191=)
c.244C= (p.Gln82=)
c.313-51C= (n.313-51C=)
c.496C= (p.Gln166=)
c.427C= (p.Gln143=)
n.665C=
n.519+2872C=
c.*416C= (n.*416C=)
c.304-51C= (n.304-51C=)
c.664C= (p.Gln222=)
9g.122381445C>GCA374780670PTGS1c.571C>G (p.Gln191Glu)
c.244C>G (p.Gln82Glu)
c.313-51C>G (n.313-51C>G)
c.496C>G (p.Gln166Glu)
c.427C>G (p.Gln143Glu)
n.665C>G
n.519+2872C>G
c.*416C>G (n.*416C>G)
c.304-51C>G (n.304-51C>G)
c.664C>G (p.Gln222Glu)
9g.122381445C>TCA374780672PTGS1c.571C>T (p.Gln191Ter)
c.244C>T (p.Gln82Ter)
c.313-51C>T (n.313-51C>T)
c.496C>T (p.Gln166Ter)
c.427C>T (p.Gln143Ter)
n.665C>T
n.519+2872C>T
c.*416C>T (n.*416C>T)
c.304-51C>T (n.304-51C>T)
c.664C>T (p.Gln222Ter)
9g.122381445_122381446delCA2539418483PTGS1c.571_572del (p.Gln191ArgfsTer?)
c.244_245del (p.Gln82ArgfsTer?)
c.313-51_313-50del (n.313-51_313-50del)
c.496_497del (p.Gln166ArgfsTer?)
c.427_428del (p.Gln143ArgfsTer?)
n.665_666del
n.519+2872_519+2873del
c.*416_*417del (n.*416_*417del)
c.304-51_304-50del (n.304-51_304-50del)
c.664_665del (p.Gln222ArgfsTer?)
9g.122381446A=CA1877496570PTGS1c.572A= (p.Gln191=)
c.245A= (p.Gln82=)
c.313-50A= (n.313-50A=)
c.497A= (p.Gln166=)
c.428A= (p.Gln143=)
n.666A=
n.519+2873A=
c.*417A= (n.*417A=)
c.304-50A= (n.304-50A=)
c.665A= (p.Gln222=)
9g.122381446A>CCA374780680PTGS1c.572A>C (p.Gln191Pro)
c.245A>C (p.Gln82Pro)
c.313-50A>C (n.313-50A>C)
c.497A>C (p.Gln166Pro)
c.428A>C (p.Gln143Pro)
n.666A>C
n.519+2873A>C
c.*417A>C (n.*417A>C)
c.304-50A>C (n.304-50A>C)
c.665A>C (p.Gln222Pro)
9g.122381446A>GCA374780677PTGS1c.572A>G (p.Gln191Arg)
c.245A>G (p.Gln82Arg)
c.313-50A>G (n.313-50A>G)
c.497A>G (p.Gln166Arg)
c.428A>G (p.Gln143Arg)
n.666A>G
n.519+2873A>G
c.*417A>G (n.*417A>G)
c.304-50A>G (n.304-50A>G)
c.665A>G (p.Gln222Arg)
dbSNP gnomAD v2 gnomAD v4
9g.122381446A>TCA374780675PTGS1c.572A>T (p.Gln191Leu)
c.245A>T (p.Gln82Leu)
c.313-50A>T (n.313-50A>T)
c.497A>T (p.Gln166Leu)
c.428A>T (p.Gln143Leu)
n.666A>T
n.519+2873A>T
c.*417A>T (n.*417A>T)
c.304-50A>T (n.304-50A>T)
c.665A>T (p.Gln222Leu)
9g.122381447A>CCA374780683PTGS1c.573A>C (p.Gln191His)
c.246A>C (p.Gln82His)
c.313-49A>C (n.313-49A>C)
c.498A>C (p.Gln166His)
c.429A>C (p.Gln143His)
n.667A>C
n.519+2874A>C
c.*418A>C (n.*418A>C)
c.304-49A>C (n.304-49A>C)
c.666A>C (p.Gln222His)
9g.122381447A>GCA467190938PTGS1c.573A>G (p.Gln191=)
c.246A>G (p.Gln82=)
c.313-49A>G (n.313-49A>G)
c.498A>G (p.Gln166=)
c.429A>G (p.Gln143=)
n.667A>G
n.519+2874A>G
c.*418A>G (n.*418A>G)
c.304-49A>G (n.304-49A>G)
c.666A>G (p.Gln222=)
gnomAD v4
9g.122381447A>TCA374780684PTGS1c.573A>T (p.Gln191His)
c.246A>T (p.Gln82His)
c.313-49A>T (n.313-49A>T)
c.498A>T (p.Gln166His)
c.429A>T (p.Gln143His)
n.667A>T
n.519+2874A>T
c.*418A>T (n.*418A>T)
c.304-49A>T (n.304-49A>T)
c.666A>T (p.Gln222His)
9g.122381448G>ACA5224852PTGS1c.574G>A (p.Gly192Ser)
c.247G>A (p.Gly83Ser)
c.313-48G>A (n.313-48G>A)
c.499G>A (p.Gly167Ser)
c.430G>A (p.Gly144Ser)
n.668G>A
n.519+2875G>A
c.*419G>A (n.*419G>A)
c.304-48G>A (n.304-48G>A)
c.667G>A (p.Gly223Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.122381448G>CCA374780688PTGS1c.574G>C (p.Gly192Arg)
c.247G>C (p.Gly83Arg)
c.313-48G>C (n.313-48G>C)
c.499G>C (p.Gly167Arg)
c.430G>C (p.Gly144Arg)
n.668G>C
n.519+2875G>C
c.*419G>C (n.*419G>C)
c.304-48G>C (n.304-48G>C)
c.667G>C (p.Gly223Arg)
9g.122381448G=CA1877496571PTGS1c.574G= (p.Gly192=)
c.247G= (p.Gly83=)
c.313-48G= (n.313-48G=)
c.499G= (p.Gly167=)
c.430G= (p.Gly144=)
n.668G=
n.519+2875G=
c.*419G= (n.*419G=)
c.304-48G= (n.304-48G=)
c.667G= (p.Gly223=)
9g.122381448G>TCA374780691PTGS1c.574G>T (p.Gly192Cys)
c.247G>T (p.Gly83Cys)
c.313-48G>T (n.313-48G>T)
c.499G>T (p.Gly167Cys)
c.430G>T (p.Gly144Cys)
n.668G>T
n.519+2875G>T
c.*419G>T (n.*419G>T)
c.304-48G>T (n.304-48G>T)
c.667G>T (p.Gly223Cys)
9g.122381448_122381449dupCA2516246815PTGS1c.574_575dup (p.Thr193AlafsTer?)
c.247_248dup (p.Thr84AlafsTer?)
c.313-48_313-47dup (n.313-48_313-47dup)
c.499_500dup (p.Thr168AlafsTer?)
c.430_431dup (p.Thr145AlafsTer?)
n.668_669dup
n.519+2875_519+2876dup
c.*419_*420dup (n.*419_*420dup)
c.304-48_304-47dup (n.304-48_304-47dup)
c.667_668dup (p.Thr224AlafsTer?)
9g.122381449delCA2691551909PTGS1c.575del (p.Gly192AlafsTer?)
c.248del (p.Gly83AlafsTer?)
c.313-47del (n.313-47del)
c.500del (p.Gly167AlafsTer?)
c.431del (p.Gly144AlafsTer?)
n.669del
n.519+2876del
c.*420del (n.*420del)
c.304-47del (n.304-47del)
c.668del (p.Gly223AlafsTer?)
gnomAD v4
9g.122381449G>ACA374780694PTGS1c.575G>A (p.Gly192Asp)
c.248G>A (p.Gly83Asp)
c.313-47G>A (n.313-47G>A)
c.500G>A (p.Gly167Asp)
c.431G>A (p.Gly144Asp)
n.669G>A
n.519+2876G>A
c.*420G>A (n.*420G>A)
c.304-47G>A (n.304-47G>A)
c.668G>A (p.Gly223Asp)
dbSNP gnomAD v4
9g.122381449G>CCA374780695PTGS1c.575G>C (p.Gly192Ala)
c.248G>C (p.Gly83Ala)
c.313-47G>C (n.313-47G>C)
c.500G>C (p.Gly167Ala)
c.431G>C (p.Gly144Ala)
n.669G>C
n.519+2876G>C
c.*420G>C (n.*420G>C)
c.304-47G>C (n.304-47G>C)
c.668G>C (p.Gly223Ala)
9g.122381449G=CA1877496572PTGS1c.575G= (p.Gly192=)
c.248G= (p.Gly83=)
c.313-47G= (n.313-47G=)
c.500G= (p.Gly167=)
c.431G= (p.Gly144=)
n.669G=
n.519+2876G=
c.*420G= (n.*420G=)
c.304-47G= (n.304-47G=)
c.668G= (p.Gly223=)
9g.122381449G>TCA374780697PTGS1c.575G>T (p.Gly192Val)
c.248G>T (p.Gly83Val)
c.313-47G>T (n.313-47G>T)
c.500G>T (p.Gly167Val)
c.431G>T (p.Gly144Val)
n.669G>T
n.519+2876G>T
c.*420G>T (n.*420G>T)
c.304-47G>T (n.304-47G>T)
c.668G>T (p.Gly223Val)
9g.122381450C>ACA467190939PTGS1c.576C>A (p.Gly192=)
c.249C>A (p.Gly83=)
c.313-46C>A (n.313-46C>A)
c.501C>A (p.Gly167=)
c.432C>A (p.Gly144=)
n.670C>A
n.519+2877C>A
c.*421C>A (n.*421C>A)
c.304-46C>A (n.304-46C>A)
c.669C>A (p.Gly223=)
9g.122381450C>GCA467190940PTGS1c.576C>G (p.Gly192=)
c.249C>G (p.Gly83=)
c.313-46C>G (n.313-46C>G)
c.501C>G (p.Gly167=)
c.432C>G (p.Gly144=)
n.670C>G
n.519+2877C>G
c.*421C>G (n.*421C>G)
c.304-46C>G (n.304-46C>G)
c.669C>G (p.Gly223=)
9g.122381450C>TCA467190941PTGS1c.576C>T (p.Gly192=)
c.249C>T (p.Gly83=)
c.313-46C>T (n.313-46C>T)
c.501C>T (p.Gly167=)
c.432C>T (p.Gly144=)
n.670C>T
n.519+2877C>T
c.*421C>T (n.*421C>T)
c.304-46C>T (n.304-46C>T)
c.669C>T (p.Gly223=)
9g.122381451A>CCA374780700PTGS1c.577A>C (p.Thr193Pro)
c.250A>C (p.Thr84Pro)
c.313-45A>C (n.313-45A>C)
c.502A>C (p.Thr168Pro)
c.433A>C (p.Thr145Pro)
n.671A>C
n.519+2878A>C
c.*422A>C (n.*422A>C)
c.304-45A>C (n.304-45A>C)
c.670A>C (p.Thr224Pro)
9g.122381451A>GCA374780703PTGS1c.577A>G (p.Thr193Ala)
c.250A>G (p.Thr84Ala)
c.313-45A>G (n.313-45A>G)
c.502A>G (p.Thr168Ala)
c.433A>G (p.Thr145Ala)
n.671A>G
n.519+2878A>G
c.*422A>G (n.*422A>G)
c.304-45A>G (n.304-45A>G)
c.670A>G (p.Thr224Ala)
9g.122381451A>TCA374780706PTGS1c.577A>T (p.Thr193Ser)
c.250A>T (p.Thr84Ser)
c.313-45A>T (n.313-45A>T)
c.502A>T (p.Thr168Ser)
c.433A>T (p.Thr145Ser)
n.671A>T
n.519+2878A>T
c.*422A>T (n.*422A>T)
c.304-45A>T (n.304-45A>T)
c.670A>T (p.Thr224Ser)
9g.122381452C>ACA374780709PTGS1c.578C>A (p.Thr193Asn)
c.251C>A (p.Thr84Asn)
c.313-44C>A (n.313-44C>A)
c.503C>A (p.Thr168Asn)
c.434C>A (p.Thr145Asn)
n.672C>A
n.519+2879C>A
c.*423C>A (n.*423C>A)
c.304-44C>A (n.304-44C>A)
c.671C>A (p.Thr224Asn)
9g.122381452C>GCA374780712PTGS1c.578C>G (p.Thr193Ser)
c.251C>G (p.Thr84Ser)
c.313-44C>G (n.313-44C>G)
c.503C>G (p.Thr168Ser)
c.434C>G (p.Thr145Ser)
n.672C>G
n.519+2879C>G
c.*423C>G (n.*423C>G)
c.304-44C>G (n.304-44C>G)
c.671C>G (p.Thr224Ser)
9g.122381452C>TCA374780714PTGS1c.578C>T (p.Thr193Ile)
c.251C>T (p.Thr84Ile)
c.313-44C>T (n.313-44C>T)
c.503C>T (p.Thr168Ile)
c.434C>T (p.Thr145Ile)
n.672C>T
n.519+2879C>T
c.*423C>T (n.*423C>T)
c.304-44C>T (n.304-44C>T)
c.671C>T (p.Thr224Ile)
9g.122381453C>ACA467190942PTGS1c.579C>A (p.Thr193=)
c.252C>A (p.Thr84=)
c.313-43C>A (n.313-43C>A)
c.504C>A (p.Thr168=)
c.435C>A (p.Thr145=)
n.673C>A
n.519+2880C>A
c.*424C>A (n.*424C>A)
c.304-43C>A (n.304-43C>A)
c.672C>A (p.Thr224=)
9g.122381453C>GCA467190943PTGS1c.579C>G (p.Thr193=)
c.252C>G (p.Thr84=)
c.313-43C>G (n.313-43C>G)
c.504C>G (p.Thr168=)
c.435C>G (p.Thr145=)
n.673C>G
n.519+2880C>G
c.*424C>G (n.*424C>G)
c.304-43C>G (n.304-43C>G)
c.672C>G (p.Thr224=)
9g.122381453C>TCA467190944PTGS1c.579C>T (p.Thr193=)
c.252C>T (p.Thr84=)
c.313-43C>T (n.313-43C>T)
c.504C>T (p.Thr168=)
c.435C>T (p.Thr145=)
n.673C>T
n.519+2880C>T
c.*424C>T (n.*424C>T)
c.304-43C>T (n.304-43C>T)
c.672C>T (p.Thr224=)
gnomAD v4
9g.122381454A>CCA374780723PTGS1c.580A>C (p.Asn194His)
c.253A>C (p.Asn85His)
c.313-42A>C (n.313-42A>C)
c.505A>C (p.Asn169His)
c.436A>C (p.Asn146His)
n.674A>C
n.519+2881A>C
c.*425A>C (n.*425A>C)
c.304-42A>C (n.304-42A>C)
c.673A>C (p.Asn225His)
9g.122381454A>GCA374780720PTGS1c.580A>G (p.Asn194Asp)
c.253A>G (p.Asn85Asp)
c.313-42A>G (n.313-42A>G)
c.505A>G (p.Asn169Asp)
c.436A>G (p.Asn146Asp)
n.674A>G
n.519+2881A>G
c.*425A>G (n.*425A>G)
c.304-42A>G (n.304-42A>G)
c.673A>G (p.Asn225Asp)
9g.122381454A>TCA374780717PTGS1c.580A>T (p.Asn194Tyr)
c.253A>T (p.Asn85Tyr)
c.313-42A>T (n.313-42A>T)
c.505A>T (p.Asn169Tyr)
c.436A>T (p.Asn146Tyr)
n.674A>T
n.519+2881A>T
c.*425A>T (n.*425A>T)
c.304-42A>T (n.304-42A>T)
c.673A>T (p.Asn225Tyr)
9g.122381455A=CA1877496573PTGS1c.581A= (p.Asn194=)
c.254A= (p.Asn85=)
c.313-41A= (n.313-41A=)
c.506A= (p.Asn169=)
c.437A= (p.Asn146=)
n.675A=
n.519+2882A=
c.*426A= (n.*426A=)
c.304-41A= (n.304-41A=)
c.674A= (p.Asn225=)
9g.122381455A>CCA374780724PTGS1c.581A>C (p.Asn194Thr)
c.254A>C (p.Asn85Thr)
c.313-41A>C (n.313-41A>C)
c.506A>C (p.Asn169Thr)
c.437A>C (p.Asn146Thr)
n.675A>C
n.519+2882A>C
c.*426A>C (n.*426A>C)
c.304-41A>C (n.304-41A>C)
c.674A>C (p.Asn225Thr)
9g.122381455A>GCA5224853PTGS1c.581A>G (p.Asn194Ser)
c.254A>G (p.Asn85Ser)
c.313-41A>G (n.313-41A>G)
c.506A>G (p.Asn169Ser)
c.437A>G (p.Asn146Ser)
n.675A>G
n.519+2882A>G
c.*426A>G (n.*426A>G)
c.304-41A>G (n.304-41A>G)
c.674A>G (p.Asn225Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.122381455A>TCA374780727PTGS1c.581A>T (p.Asn194Ile)
c.254A>T (p.Asn85Ile)
c.313-41A>T (n.313-41A>T)
c.506A>T (p.Asn169Ile)
c.437A>T (p.Asn146Ile)
n.675A>T
n.519+2882A>T
c.*426A>T (n.*426A>T)
c.304-41A>T (n.304-41A>T)
c.674A>T (p.Asn225Ile)
9g.122381455_122381456insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTACA1128881689PTGS1c.581_582insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA (p.Asn194LysfsTer?)
c.254_255insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA (p.Asn85LysfsTer?)
c.313-41_313-40insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA (n.313-41_313-40insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA)
c.506_507insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA (p.Asn169LysfsTer?)
c.437_438insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA (p.Asn146LysfsTer?)
n.675_676insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA
n.519+2882_519+2883insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA
c.*426_*427insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA (n.*426_*427insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA)
c.304-41_304-40insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA (n.304-41_304-40insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA)
c.674_675insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA (p.Asn225LysfsTer?)
gnomAD v3 gnomAD v4
9g.122381456C>ACA374780731PTGS1c.582C>A (p.Asn194Lys)
c.255C>A (p.Asn85Lys)
c.313-40C>A (n.313-40C>A)
c.507C>A (p.Asn169Lys)
c.438C>A (p.Asn146Lys)
n.676C>A
n.519+2883C>A
c.*427C>A (n.*427C>A)
c.304-40C>A (n.304-40C>A)
c.675C>A (p.Asn225Lys)
gnomAD v4
9g.122381456C=CA1877496574PTGS1c.582C= (p.Asn194=)
c.255C= (p.Asn85=)
c.313-40C= (n.313-40C=)
c.507C= (p.Asn169=)
c.438C= (p.Asn146=)
n.676C=
n.519+2883C=
c.*427C= (n.*427C=)
c.304-40C= (n.304-40C=)
c.675C= (p.Asn225=)
9g.122381456C>GCA374780734PTGS1c.582C>G (p.Asn194Lys)
c.255C>G (p.Asn85Lys)
c.313-40C>G (n.313-40C>G)
c.507C>G (p.Asn169Lys)
c.438C>G (p.Asn146Lys)
n.676C>G
n.519+2883C>G
c.*427C>G (n.*427C>G)
c.304-40C>G (n.304-40C>G)
c.675C>G (p.Asn225Lys)
9g.122381456C>TCA199478816PTGS1c.582C>T (p.Asn194=)
c.255C>T (p.Asn85=)
c.313-40C>T (n.313-40C>T)
c.507C>T (p.Asn169=)
c.438C>T (p.Asn146=)
n.676C>T
n.519+2883C>T
c.*427C>T (n.*427C>T)
c.304-40C>T (n.304-40C>T)
c.675C>T (p.Asn225=)
dbSNP gnomAD v4
9g.122381457C>ACA374780737PTGS1c.583C>A (p.Leu195Ile)
c.256C>A (p.Leu86Ile)
c.313-39C>A (n.313-39C>A)
c.508C>A (p.Leu170Ile)
c.439C>A (p.Leu147Ile)
n.677C>A
n.519+2884C>A
c.*428C>A (n.*428C>A)
c.304-39C>A (n.304-39C>A)
c.676C>A (p.Leu226Ile)
9g.122381457C=CA1877496575PTGS1c.583C= (p.Leu195=)
c.256C= (p.Leu86=)
c.313-39C= (n.313-39C=)
c.508C= (p.Leu170=)
c.439C= (p.Leu147=)
n.677C=
n.519+2884C=
c.*428C= (n.*428C=)
c.304-39C= (n.304-39C=)
c.676C= (p.Leu226=)
9g.122381457C>GCA374780741PTGS1c.583C>G (p.Leu195Val)
c.256C>G (p.Leu86Val)
c.313-39C>G (n.313-39C>G)
c.508C>G (p.Leu170Val)
c.439C>G (p.Leu147Val)
n.677C>G
n.519+2884C>G
c.*428C>G (n.*428C>G)
c.304-39C>G (n.304-39C>G)
c.676C>G (p.Leu226Val)
gnomAD v4
9g.122381457C>TCA199478835PTGS1c.583C>T (p.Leu195Phe)
c.256C>T (p.Leu86Phe)
c.313-39C>T (n.313-39C>T)
c.508C>T (p.Leu170Phe)
c.439C>T (p.Leu147Phe)
n.677C>T
n.519+2884C>T
c.*428C>T (n.*428C>T)
c.304-39C>T (n.304-39C>T)
c.676C>T (p.Leu226Phe)
dbSNP gnomAD v4
9g.122381457_122381458insCACTTACGGGCCAGCTGCATAAAAACA1128881691PTGS1c.583_584insCACTTACGGGCCAGCTGCATAAAAA (p.Leu195ProfsTer?)
c.256_257insCACTTACGGGCCAGCTGCATAAAAA (p.Leu86ProfsTer?)
c.313-39_313-38insCACTTACGGGCCAGCTGCATAAAAA (n.313-39_313-38insCACTTACGGGCCAGCTGCATAAAAA)
c.508_509insCACTTACGGGCCAGCTGCATAAAAA (p.Leu170ProfsTer?)
c.439_440insCACTTACGGGCCAGCTGCATAAAAA (p.Leu147ProfsTer?)
n.677_678insCACTTACGGGCCAGCTGCATAAAAA
n.519+2884_519+2885insCACTTACGGGCCAGCTGCATAAAAA
c.*428_*429insCACTTACGGGCCAGCTGCATAAAAA (n.*428_*429insCACTTACGGGCCAGCTGCATAAAAA)
c.304-39_304-38insCACTTACGGGCCAGCTGCATAAAAA (n.304-39_304-38insCACTTACGGGCCAGCTGCATAAAAA)
c.676_677insCACTTACGGGCCAGCTGCATAAAAA (p.Leu226ProfsTer?)
gnomAD v3 gnomAD v4
9g.122381458T>ACA374780746PTGS1c.584T>A (p.Leu195His)
c.257T>A (p.Leu86His)
c.313-38T>A (n.313-38T>A)
c.509T>A (p.Leu170His)
c.440T>A (p.Leu147His)
n.678T>A
n.519+2885T>A
c.*429T>A (n.*429T>A)
c.304-38T>A (n.304-38T>A)
c.677T>A (p.Leu226His)
9g.122381458T>CCA199478840PTGS1c.584T>C (p.Leu195Pro)
c.257T>C (p.Leu86Pro)
c.313-38T>C (n.313-38T>C)
c.509T>C (p.Leu170Pro)
c.440T>C (p.Leu147Pro)
n.678T>C
n.519+2885T>C
c.*429T>C (n.*429T>C)
c.304-38T>C (n.304-38T>C)
c.677T>C (p.Leu226Pro)
dbSNP
9g.122381458T>GCA374780748PTGS1c.584T>G (p.Leu195Arg)
c.257T>G (p.Leu86Arg)
c.313-38T>G (n.313-38T>G)
c.509T>G (p.Leu170Arg)
c.440T>G (p.Leu147Arg)
n.678T>G
n.519+2885T>G
c.*429T>G (n.*429T>G)
c.304-38T>G (n.304-38T>G)
c.677T>G (p.Leu226Arg)
9g.122381458T=CA1877496576PTGS1c.584T= (p.Leu195=)
c.257T= (p.Leu86=)
c.313-38T= (n.313-38T=)
c.509T= (p.Leu170=)
c.440T= (p.Leu147=)
n.678T=
n.519+2885T=
c.*429T= (n.*429T=)
c.304-38T= (n.304-38T=)
c.677T= (p.Leu226=)
9g.122381459C>ACA467190945PTGS1c.585C>A (p.Leu195=)
c.258C>A (p.Leu86=)
c.313-37C>A (n.313-37C>A)
c.510C>A (p.Leu170=)
c.441C>A (p.Leu147=)
n.679C>A
n.519+2886C>A
c.*430C>A (n.*430C>A)
c.304-37C>A (n.304-37C>A)
c.678C>A (p.Leu226=)
9g.122381459C>GCA467190946PTGS1c.585C>G (p.Leu195=)
c.258C>G (p.Leu86=)
c.313-37C>G (n.313-37C>G)
c.510C>G (p.Leu170=)
c.441C>G (p.Leu147=)
n.679C>G
n.519+2886C>G
c.*430C>G (n.*430C>G)
c.304-37C>G (n.304-37C>G)
c.678C>G (p.Leu226=)
9g.122381459C>TCA467190947PTGS1c.585C>T (p.Leu195=)
c.258C>T (p.Leu86=)
c.313-37C>T (n.313-37C>T)
c.510C>T (p.Leu170=)
c.441C>T (p.Leu147=)
n.679C>T
n.519+2886C>T
c.*430C>T (n.*430C>T)
c.304-37C>T (n.304-37C>T)
c.678C>T (p.Leu226=)
9g.122381460A>CCA374780754PTGS1c.586A>C (p.Met196Leu)
c.259A>C (p.Met87Leu)
c.313-36A>C (n.313-36A>C)
c.511A>C (p.Met171Leu)
c.442A>C (p.Met148Leu)
n.680A>C
n.519+2887A>C
c.*431A>C (n.*431A>C)
c.304-36A>C (n.304-36A>C)
c.679A>C (p.Met227Leu)
gnomAD v4
9g.122381460A>GCA374780753PTGS1c.586A>G (p.Met196Val)
c.259A>G (p.Met87Val)
c.313-36A>G (n.313-36A>G)
c.511A>G (p.Met171Val)
c.442A>G (p.Met148Val)
n.680A>G
n.519+2887A>G
c.*431A>G (n.*431A>G)
c.304-36A>G (n.304-36A>G)
c.679A>G (p.Met227Val)
9g.122381460A>TCA374780750PTGS1c.586A>T (p.Met196Leu)
c.259A>T (p.Met87Leu)
c.313-36A>T (n.313-36A>T)
c.511A>T (p.Met171Leu)
c.442A>T (p.Met148Leu)
n.680A>T
n.519+2887A>T
c.*431A>T (n.*431A>T)
c.304-36A>T (n.304-36A>T)
c.679A>T (p.Met227Leu)
9g.122381461_122381462insTTAGAAAGCTGATCA1128881693PTGS1c.587_588insTTAGAAAGCTGAT (p.Met196IlefsTer2)
c.260_261insTTAGAAAGCTGAT (p.Met87IlefsTer2)
c.313-35_313-34insTTAGAAAGCTGAT (n.313-35_313-34insTTAGAAAGCTGAT)
c.512_513insTTAGAAAGCTGAT (p.Met171IlefsTer2)
c.443_444insTTAGAAAGCTGAT (p.Met148IlefsTer2)
n.681_682insTTAGAAAGCTGAT
n.519+2888_519+2889insTTAGAAAGCTGAT
c.*432_*433insTTAGAAAGCTGAT (n.*432_*433insTTAGAAAGCTGAT)
c.304-35_304-34insTTAGAAAGCTGAT (n.304-35_304-34insTTAGAAAGCTGAT)
c.680_681insTTAGAAAGCTGAT (p.Met227IlefsTer2)
gnomAD v3 gnomAD v4
9g.122381461T>ACA374780757PTGS1c.587T>A (p.Met196Lys)
c.260T>A (p.Met87Lys)
c.313-35T>A (n.313-35T>A)
c.512T>A (p.Met171Lys)
c.443T>A (p.Met148Lys)
n.681T>A
n.519+2888T>A
c.*432T>A (n.*432T>A)
c.304-35T>A (n.304-35T>A)
c.680T>A (p.Met227Lys)
COSMIC
9g.122381461T>CCA374780760PTGS1c.587T>C (p.Met196Thr)
c.260T>C (p.Met87Thr)
c.313-35T>C (n.313-35T>C)
c.512T>C (p.Met171Thr)
c.443T>C (p.Met148Thr)
n.681T>C
n.519+2888T>C
c.*432T>C (n.*432T>C)
c.304-35T>C (n.304-35T>C)
c.680T>C (p.Met227Thr)
gnomAD v4 COSMIC
9g.122381461T>GCA374780763PTGS1c.587T>G (p.Met196Arg)
c.260T>G (p.Met87Arg)
c.313-35T>G (n.313-35T>G)
c.512T>G (p.Met171Arg)
c.443T>G (p.Met148Arg)
n.681T>G
n.519+2888T>G
c.*432T>G (n.*432T>G)
c.304-35T>G (n.304-35T>G)
c.680T>G (p.Met227Arg)
9g.122381462G>ACA374780766PTGS1c.588G>A (p.Met196Ile)
c.261G>A (p.Met87Ile)
c.313-34G>A (n.313-34G>A)
c.513G>A (p.Met171Ile)
c.444G>A (p.Met148Ile)
n.682G>A
n.519+2889G>A
c.*433G>A (n.*433G>A)
c.304-34G>A (n.304-34G>A)
c.681G>A (p.Met227Ile)
9g.122381462G>CCA374780767PTGS1c.588G>C (p.Met196Ile)
c.261G>C (p.Met87Ile)
c.313-34G>C (n.313-34G>C)
c.513G>C (p.Met171Ile)
c.444G>C (p.Met148Ile)
n.682G>C
n.519+2889G>C
c.*433G>C (n.*433G>C)
c.304-34G>C (n.304-34G>C)
c.681G>C (p.Met227Ile)
9g.122381462G>TCA374780769PTGS1c.588G>T (p.Met196Ile)
c.261G>T (p.Met87Ile)
c.313-34G>T (n.313-34G>T)
c.513G>T (p.Met171Ile)
c.444G>T (p.Met148Ile)
n.682G>T
n.519+2889G>T
c.*433G>T (n.*433G>T)
c.304-34G>T (n.304-34G>T)
c.681G>T (p.Met227Ile)
COSMIC
9g.122381463T>ACA374780776PTGS1c.589T>A (p.Phe197Ile)
c.262T>A (p.Phe88Ile)
c.313-33T>A (n.313-33T>A)
c.514T>A (p.Phe172Ile)
c.445T>A (p.Phe149Ile)
n.683T>A
n.519+2890T>A
c.*434T>A (n.*434T>A)
c.304-33T>A (n.304-33T>A)
c.682T>A (p.Phe228Ile)
9g.122381463T>CCA374780770PTGS1c.589T>C (p.Phe197Leu)
c.262T>C (p.Phe88Leu)
c.313-33T>C (n.313-33T>C)
c.514T>C (p.Phe172Leu)
c.445T>C (p.Phe149Leu)
n.683T>C
n.519+2890T>C
c.*434T>C (n.*434T>C)
c.304-33T>C (n.304-33T>C)
c.682T>C (p.Phe228Leu)
COSMIC
9g.122381463T>GCA374780772PTGS1c.589T>G (p.Phe197Val)
c.262T>G (p.Phe88Val)
c.313-33T>G (n.313-33T>G)
c.514T>G (p.Phe172Val)
c.445T>G (p.Phe149Val)
n.683T>G
n.519+2890T>G
c.*434T>G (n.*434T>G)
c.304-33T>G (n.304-33T>G)
c.682T>G (p.Phe228Val)
9g.122381464T>ACA374780779PTGS1c.590T>A (p.Phe197Tyr)
c.263T>A (p.Phe88Tyr)
c.313-32T>A (n.313-32T>A)
c.515T>A (p.Phe172Tyr)
c.446T>A (p.Phe149Tyr)
n.684T>A
n.519+2891T>A
c.*435T>A (n.*435T>A)
c.304-32T>A (n.304-32T>A)
c.683T>A (p.Phe228Tyr)
9g.122381464T>CCA374780781PTGS1c.590T>C (p.Phe197Ser)
c.263T>C (p.Phe88Ser)
c.313-32T>C (n.313-32T>C)
c.515T>C (p.Phe172Ser)
c.446T>C (p.Phe149Ser)
n.684T>C
n.519+2891T>C
c.*435T>C (n.*435T>C)
c.304-32T>C (n.304-32T>C)
c.683T>C (p.Phe228Ser)
COSMIC
9g.122381464T>GCA374780784PTGS1c.590T>G (p.Phe197Cys)
c.263T>G (p.Phe88Cys)
c.313-32T>G (n.313-32T>G)
c.515T>G (p.Phe172Cys)
c.446T>G (p.Phe149Cys)
n.684T>G
n.519+2891T>G
c.*435T>G (n.*435T>G)
c.304-32T>G (n.304-32T>G)
c.683T>G (p.Phe228Cys)
9g.122381465T>ACA374780786PTGS1c.591T>A (p.Phe197Leu)
c.264T>A (p.Phe88Leu)
c.313-31T>A (n.313-31T>A)
c.516T>A (p.Phe172Leu)
c.447T>A (p.Phe149Leu)
n.685T>A
n.519+2892T>A
c.*436T>A (n.*436T>A)
c.304-31T>A (n.304-31T>A)
c.684T>A (p.Phe228Leu)
9g.122381465T>CCA467190948PTGS1c.591T>C (p.Phe197=)
c.264T>C (p.Phe88=)
c.313-31T>C (n.313-31T>C)
c.516T>C (p.Phe172=)
c.447T>C (p.Phe149=)
n.685T>C
n.519+2892T>C
c.*436T>C (n.*436T>C)
c.304-31T>C (n.304-31T>C)
c.684T>C (p.Phe228=)
COSMIC
9g.122381465T>GCA374780788PTGS1c.591T>G (p.Phe197Leu)
c.264T>G (p.Phe88Leu)
c.313-31T>G (n.313-31T>G)
c.516T>G (p.Phe172Leu)
c.447T>G (p.Phe149Leu)
n.685T>G
n.519+2892T>G
c.*436T>G (n.*436T>G)
c.304-31T>G (n.304-31T>G)
c.684T>G (p.Phe228Leu)
9g.122381466G>ACA5224854PTGS1c.592G>A (p.Ala198Thr)
c.265G>A (p.Ala89Thr)
c.313-30G>A (n.313-30G>A)
c.517G>A (p.Ala173Thr)
c.448G>A (p.Ala150Thr)
n.686G>A
n.519+2893G>A
c.*437G>A (n.*437G>A)
c.304-30G>A (n.304-30G>A)
c.685G>A (p.Ala229Thr)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.122381466G>CCA374780793PTGS1c.592G>C (p.Ala198Pro)
c.265G>C (p.Ala89Pro)
c.313-30G>C (n.313-30G>C)
c.517G>C (p.Ala173Pro)
c.448G>C (p.Ala150Pro)
n.686G>C
n.519+2893G>C
c.*437G>C (n.*437G>C)
c.304-30G>C (n.304-30G>C)
c.685G>C (p.Ala229Pro)
9g.122381466G=CA1877496577PTGS1c.592G= (p.Ala198=)
c.265G= (p.Ala89=)
c.313-30G= (n.313-30G=)
c.517G= (p.Ala173=)
c.448G= (p.Ala150=)
n.686G=
n.519+2893G=
c.*437G= (n.*437G=)
c.304-30G= (n.304-30G=)
c.685G= (p.Ala229=)
9g.122381466G>TCA374780790PTGS1c.592G>T (p.Ala198Ser)
c.265G>T (p.Ala89Ser)
c.313-30G>T (n.313-30G>T)
c.517G>T (p.Ala173Ser)
c.448G>T (p.Ala150Ser)
n.686G>T
n.519+2893G>T
c.*437G>T (n.*437G>T)
c.304-30G>T (n.304-30G>T)
c.685G>T (p.Ala229Ser)
9g.122381467C>ACA374780796PTGS1c.593C>A (p.Ala198Asp)
c.266C>A (p.Ala89Asp)
c.313-29C>A (n.313-29C>A)
c.518C>A (p.Ala173Asp)
c.449C>A (p.Ala150Asp)
n.687C>A
n.519+2894C>A
c.*438C>A (n.*438C>A)
c.304-29C>A (n.304-29C>A)
c.686C>A (p.Ala229Asp)
9g.122381467C=CA1877496578PTGS1c.593C= (p.Ala198=)
c.266C= (p.Ala89=)
c.313-29C= (n.313-29C=)
c.518C= (p.Ala173=)
c.449C= (p.Ala150=)
n.687C=
n.519+2894C=
c.*438C= (n.*438C=)
c.304-29C= (n.304-29C=)
c.686C= (p.Ala229=)
9g.122381467C>GCA374780797PTGS1c.593C>G (p.Ala198Gly)
c.266C>G (p.Ala89Gly)
c.313-29C>G (n.313-29C>G)
c.518C>G (p.Ala173Gly)
c.449C>G (p.Ala150Gly)
n.687C>G
n.519+2894C>G
c.*438C>G (n.*438C>G)
c.304-29C>G (n.304-29C>G)
c.686C>G (p.Ala229Gly)
dbSNP gnomAD v3 gnomAD v4
9g.122381467C>TCA374780801PTGS1c.593C>T (p.Ala198Val)
c.266C>T (p.Ala89Val)
c.313-29C>T (n.313-29C>T)
c.518C>T (p.Ala173Val)
c.449C>T (p.Ala150Val)
n.687C>T
n.519+2894C>T
c.*438C>T (n.*438C>T)
c.304-29C>T (n.304-29C>T)
c.686C>T (p.Ala229Val)
COSMIC
9g.122381468C>ACA467190951PTGS1c.594C>A (p.Ala198=)
c.267C>A (p.Ala89=)
c.313-28C>A (n.313-28C>A)
c.519C>A (p.Ala173=)
c.450C>A (p.Ala150=)
n.688C>A
n.519+2895C>A
c.*439C>A (n.*439C>A)
c.304-28C>A (n.304-28C>A)
c.687C>A (p.Ala229=)
9g.122381468C>GCA467190950PTGS1c.594C>G (p.Ala198=)
c.267C>G (p.Ala89=)
c.313-28C>G (n.313-28C>G)
c.519C>G (p.Ala173=)
c.450C>G (p.Ala150=)
n.688C>G
n.519+2895C>G
c.*439C>G (n.*439C>G)
c.304-28C>G (n.304-28C>G)
c.687C>G (p.Ala229=)
COSMIC
9g.122381468C>TCA467190949PTGS1c.594C>T (p.Ala198=)
c.267C>T (p.Ala89=)
c.313-28C>T (n.313-28C>T)
c.519C>T (p.Ala173=)
c.450C>T (p.Ala150=)
n.688C>T
n.519+2895C>T
c.*439C>T (n.*439C>T)
c.304-28C>T (n.304-28C>T)
c.687C>T (p.Ala229=)
9g.122381469T>ACA374780803PTGS1c.595T>A (p.Phe199Ile)
c.268T>A (p.Phe90Ile)
c.313-27T>A (n.313-27T>A)
c.520T>A (p.Phe174Ile)
c.451T>A (p.Phe151Ile)
n.689T>A
n.519+2896T>A
c.*440T>A (n.*440T>A)
c.304-27T>A (n.304-27T>A)
c.688T>A (p.Phe230Ile)
9g.122381469T>CCA374780806PTGS1c.595T>C (p.Phe199Leu)
c.268T>C (p.Phe90Leu)
c.313-27T>C (n.313-27T>C)
c.520T>C (p.Phe174Leu)
c.451T>C (p.Phe151Leu)
n.689T>C
n.519+2896T>C
c.*440T>C (n.*440T>C)
c.304-27T>C (n.304-27T>C)
c.688T>C (p.Phe230Leu)
9g.122381469T>GCA374780809PTGS1c.595T>G (p.Phe199Val)
c.268T>G (p.Phe90Val)
c.313-27T>G (n.313-27T>G)
c.520T>G (p.Phe174Val)
c.451T>G (p.Phe151Val)
n.689T>G
n.519+2896T>G
c.*440T>G (n.*440T>G)
c.304-27T>G (n.304-27T>G)
c.688T>G (p.Phe230Val)
COSMIC
9g.122381470T>ACA374780811PTGS1c.596T>A (p.Phe199Tyr)
c.269T>A (p.Phe90Tyr)
c.313-26T>A (n.313-26T>A)
c.521T>A (p.Phe174Tyr)
c.452T>A (p.Phe151Tyr)
n.690T>A
n.519+2897T>A
c.*441T>A (n.*441T>A)
c.304-26T>A (n.304-26T>A)
c.689T>A (p.Phe230Tyr)
9g.122381470T>CCA374780813PTGS1c.596T>C (p.Phe199Ser)
c.269T>C (p.Phe90Ser)
c.313-26T>C (n.313-26T>C)
c.521T>C (p.Phe174Ser)
c.452T>C (p.Phe151Ser)
n.690T>C
n.519+2897T>C
c.*441T>C (n.*441T>C)
c.304-26T>C (n.304-26T>C)
c.689T>C (p.Phe230Ser)
9g.122381470T>GCA374780816PTGS1c.596T>G (p.Phe199Cys)
c.269T>G (p.Phe90Cys)
c.313-26T>G (n.313-26T>G)
c.521T>G (p.Phe174Cys)
c.452T>G (p.Phe151Cys)
n.690T>G
n.519+2897T>G
c.*441T>G (n.*441T>G)
c.304-26T>G (n.304-26T>G)
c.689T>G (p.Phe230Cys)
9g.122381471C>ACA374780818PTGS1c.597C>A (p.Phe199Leu)
c.270C>A (p.Phe90Leu)
c.313-25C>A (n.313-25C>A)
c.522C>A (p.Phe174Leu)
c.453C>A (p.Phe151Leu)
n.691C>A
n.519+2898C>A
c.*442C>A (n.*442C>A)
c.304-25C>A (n.304-25C>A)
c.690C>A (p.Phe230Leu)
9g.122381471C=CA1877496579PTGS1c.597C= (p.Phe199=)
c.270C= (p.Phe90=)
c.313-25C= (n.313-25C=)
c.522C= (p.Phe174=)
c.453C= (p.Phe151=)
n.691C=
n.519+2898C=
c.*442C= (n.*442C=)
c.304-25C= (n.304-25C=)
c.690C= (p.Phe230=)
9g.122381471C>GCA5224855PTGS1c.597C>G (p.Phe199Leu)
c.270C>G (p.Phe90Leu)
c.313-25C>G (n.313-25C>G)
c.522C>G (p.Phe174Leu)
c.453C>G (p.Phe151Leu)
n.691C>G
n.519+2898C>G
c.*442C>G (n.*442C>G)
c.304-25C>G (n.304-25C>G)
c.690C>G (p.Phe230Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.122381471C>TCA467190952PTGS1c.597C>T (p.Phe199=)
c.270C>T (p.Phe90=)
c.313-25C>T (n.313-25C>T)
c.522C>T (p.Phe174=)
c.453C>T (p.Phe151=)
n.691C>T
n.519+2898C>T
c.*442C>T (n.*442C>T)
c.304-25C>T (n.304-25C>T)
c.690C>T (p.Phe230=)
9g.122381472T>ACA374780823PTGS1c.598T>A (p.Phe200Ile)
c.271T>A (p.Phe91Ile)
c.313-24T>A (n.313-24T>A)
c.523T>A (p.Phe175Ile)
c.454T>A (p.Phe152Ile)
n.692T>A
n.519+2899T>A
c.*443T>A (n.*443T>A)
c.304-24T>A (n.304-24T>A)
c.691T>A (p.Phe231Ile)
9g.122381472T>CCA374780829PTGS1c.598T>C (p.Phe200Leu)
c.271T>C (p.Phe91Leu)
c.313-24T>C (n.313-24T>C)
c.523T>C (p.Phe175Leu)
c.454T>C (p.Phe152Leu)
n.692T>C
n.519+2899T>C
c.*443T>C (n.*443T>C)
c.304-24T>C (n.304-24T>C)
c.691T>C (p.Phe231Leu)
dbSNP gnomAD v2
9g.122381472T>GCA374780825PTGS1c.598T>G (p.Phe200Val)
c.271T>G (p.Phe91Val)
c.313-24T>G (n.313-24T>G)
c.523T>G (p.Phe175Val)
c.454T>G (p.Phe152Val)
n.692T>G
n.519+2899T>G
c.*443T>G (n.*443T>G)
c.304-24T>G (n.304-24T>G)
c.691T>G (p.Phe231Val)
9g.122381472T=CA1877496580PTGS1c.598T= (p.Phe200=)
c.271T= (p.Phe91=)
c.313-24T= (n.313-24T=)
c.523T= (p.Phe175=)
c.454T= (p.Phe152=)
n.692T=
n.519+2899T=
c.*443T= (n.*443T=)
c.304-24T= (n.304-24T=)
c.691T= (p.Phe231=)
9g.122381473T>ACA374780832PTGS1c.599T>A (p.Phe200Tyr)
c.272T>A (p.Phe91Tyr)
c.313-23T>A (n.313-23T>A)
c.524T>A (p.Phe175Tyr)
c.455T>A (p.Phe152Tyr)
n.693T>A
n.519+2900T>A
c.*444T>A (n.*444T>A)
c.304-23T>A (n.304-23T>A)
c.692T>A (p.Phe231Tyr)
9g.122381473T>CCA374780837PTGS1c.599T>C (p.Phe200Ser)
c.272T>C (p.Phe91Ser)
c.313-23T>C (n.313-23T>C)
c.524T>C (p.Phe175Ser)
c.455T>C (p.Phe152Ser)
n.693T>C
n.519+2900T>C
c.*444T>C (n.*444T>C)
c.304-23T>C (n.304-23T>C)
c.692T>C (p.Phe231Ser)
9g.122381473T>GCA374780834PTGS1c.599T>G (p.Phe200Cys)
c.272T>G (p.Phe91Cys)
c.313-23T>G (n.313-23T>G)
c.524T>G (p.Phe175Cys)
c.455T>G (p.Phe152Cys)
n.693T>G
n.519+2900T>G
c.*444T>G (n.*444T>G)
c.304-23T>G (n.304-23T>G)
c.692T>G (p.Phe231Cys)
9g.122381474T>ACA374780839PTGS1c.600T>A (p.Phe200Leu)
c.273T>A (p.Phe91Leu)
c.313-22T>A (n.313-22T>A)
c.525T>A (p.Phe175Leu)
c.456T>A (p.Phe152Leu)
n.694T>A
n.519+2901T>A
c.*445T>A (n.*445T>A)
c.304-22T>A (n.304-22T>A)
c.693T>A (p.Phe231Leu)
9g.122381474T>CCA467190953PTGS1c.600T>C (p.Phe200=)
c.273T>C (p.Phe91=)
c.313-22T>C (n.313-22T>C)
c.525T>C (p.Phe175=)
c.456T>C (p.Phe152=)
n.694T>C
n.519+2901T>C
c.*445T>C (n.*445T>C)
c.304-22T>C (n.304-22T>C)
c.693T>C (p.Phe231=)
9g.122381474T>GCA374780841PTGS1c.600T>G (p.Phe200Leu)
c.273T>G (p.Phe91Leu)
c.313-22T>G (n.313-22T>G)
c.525T>G (p.Phe175Leu)
c.456T>G (p.Phe152Leu)
n.694T>G
n.519+2901T>G
c.*445T>G (n.*445T>G)
c.304-22T>G (n.304-22T>G)
c.693T>G (p.Phe231Leu)
9g.122381475G>ACA374780843PTGS1c.601G>A (p.Ala201Thr)
c.274G>A (p.Ala92Thr)
c.313-21G>A (n.313-21G>A)
c.526G>A (p.Ala176Thr)
c.457G>A (p.Ala153Thr)
n.695G>A
n.519+2902G>A
c.*446G>A (n.*446G>A)
c.304-21G>A (n.304-21G>A)
c.694G>A (p.Ala232Thr)
9g.122381475G>CCA374780847PTGS1c.601G>C (p.Ala201Pro)
c.274G>C (p.Ala92Pro)
c.313-21G>C (n.313-21G>C)
c.526G>C (p.Ala176Pro)
c.457G>C (p.Ala153Pro)
n.695G>C
n.519+2902G>C
c.*446G>C (n.*446G>C)
c.304-21G>C (n.304-21G>C)
c.694G>C (p.Ala232Pro)
9g.122381475G>TCA374780845PTGS1c.601G>T (p.Ala201Ser)
c.274G>T (p.Ala92Ser)
c.313-21G>T (n.313-21G>T)
c.526G>T (p.Ala176Ser)
c.457G>T (p.Ala153Ser)
n.695G>T
n.519+2902G>T
c.*446G>T (n.*446G>T)
c.304-21G>T (n.304-21G>T)
c.694G>T (p.Ala232Ser)
9g.122381476C>ACA374780850PTGS1c.602C>A (p.Ala201Glu)
c.275C>A (p.Ala92Glu)
c.313-20C>A (n.313-20C>A)
c.527C>A (p.Ala176Glu)
c.458C>A (p.Ala153Glu)
n.696C>A
n.519+2903C>A
c.*447C>A (n.*447C>A)
c.304-20C>A (n.304-20C>A)
c.695C>A (p.Ala232Glu)
9g.122381476C>GCA374780852PTGS1c.602C>G (p.Ala201Gly)
c.275C>G (p.Ala92Gly)
c.313-20C>G (n.313-20C>G)
c.527C>G (p.Ala176Gly)
c.458C>G (p.Ala153Gly)
n.696C>G
n.519+2903C>G
c.*447C>G (n.*447C>G)
c.304-20C>G (n.304-20C>G)
c.695C>G (p.Ala232Gly)
9g.122381476C>TCA374780853PTGS1c.602C>T (p.Ala201Val)
c.275C>T (p.Ala92Val)
c.313-20C>T (n.313-20C>T)
c.527C>T (p.Ala176Val)
c.458C>T (p.Ala153Val)
n.696C>T
n.519+2903C>T
c.*447C>T (n.*447C>T)
c.304-20C>T (n.304-20C>T)
c.695C>T (p.Ala232Val)
9g.122381477A>CCA467190954PTGS1c.603A>C (p.Ala201=)
c.276A>C (p.Ala92=)
c.313-19A>C (n.313-19A>C)
c.528A>C (p.Ala176=)
c.459A>C (p.Ala153=)
n.697A>C
n.519+2904A>C
c.*448A>C (n.*448A>C)
c.304-19A>C (n.304-19A>C)
c.696A>C (p.Ala232=)
9g.122381477A>GCA467190955PTGS1c.603A>G (p.Ala201=)
c.276A>G (p.Ala92=)
c.313-19A>G (n.313-19A>G)
c.528A>G (p.Ala176=)
c.459A>G (p.Ala153=)
n.697A>G
n.519+2904A>G
c.*448A>G (n.*448A>G)
c.304-19A>G (n.304-19A>G)
c.696A>G (p.Ala232=)
gnomAD v4
9g.122381477A>TCA467190956PTGS1c.603A>T (p.Ala201=)
c.276A>T (p.Ala92=)
c.313-19A>T (n.313-19A>T)
c.528A>T (p.Ala176=)
c.459A>T (p.Ala153=)
n.697A>T
n.519+2904A>T
c.*448A>T (n.*448A>T)
c.304-19A>T (n.304-19A>T)
c.696A>T (p.Ala232=)
9g.122381478C>ACA374780854PTGS1c.604C>A (p.Gln202Lys)
c.277C>A (p.Gln93Lys)
c.313-18C>A (n.313-18C>A)
c.529C>A (p.Gln177Lys)
c.460C>A (p.Gln154Lys)
n.698C>A
n.519+2905C>A
c.*449C>A (n.*449C>A)
c.304-18C>A (n.304-18C>A)
c.697C>A (p.Gln233Lys)
gnomAD v4
9g.122381478C=CA1877496581PTGS1c.604C= (p.Gln202=)
c.277C= (p.Gln93=)
c.313-18C= (n.313-18C=)
c.529C= (p.Gln177=)
c.460C= (p.Gln154=)
n.698C=
n.519+2905C=
c.*449C= (n.*449C=)
c.304-18C= (n.304-18C=)
c.697C= (p.Gln233=)
9g.122381478C>GCA374780855PTGS1c.604C>G (p.Gln202Glu)
c.277C>G (p.Gln93Glu)
c.313-18C>G (n.313-18C>G)
c.529C>G (p.Gln177Glu)
c.460C>G (p.Gln154Glu)
n.698C>G
n.519+2905C>G
c.*449C>G (n.*449C>G)
c.304-18C>G (n.304-18C>G)
c.697C>G (p.Gln233Glu)
9g.122381478C>TCA374780856PTGS1c.604C>T (p.Gln202Ter)
c.277C>T (p.Gln93Ter)
c.313-18C>T (n.313-18C>T)
c.529C>T (p.Gln177Ter)
c.460C>T (p.Gln154Ter)
n.698C>T
n.519+2905C>T
c.*449C>T (n.*449C>T)
c.304-18C>T (n.304-18C>T)
c.697C>T (p.Gln233Ter)
dbSNP gnomAD v3 gnomAD v4
9g.122381479A>CCA374780857PTGS1c.605A>C (p.Gln202Pro)
c.278A>C (p.Gln93Pro)
c.313-17A>C (n.313-17A>C)
c.530A>C (p.Gln177Pro)
c.461A>C (p.Gln154Pro)
n.699A>C
n.519+2906A>C
c.*450A>C (n.*450A>C)
c.304-17A>C (n.304-17A>C)
c.698A>C (p.Gln233Pro)
9g.122381479A>GCA374780858PTGS1c.605A>G (p.Gln202Arg)
c.278A>G (p.Gln93Arg)
c.313-17A>G (n.313-17A>G)
c.530A>G (p.Gln177Arg)
c.461A>G (p.Gln154Arg)
n.699A>G
n.519+2906A>G
c.*450A>G (n.*450A>G)
c.304-17A>G (n.304-17A>G)
c.698A>G (p.Gln233Arg)
9g.122381479A>TCA374780861PTGS1c.605A>T (p.Gln202Leu)
c.278A>T (p.Gln93Leu)
c.313-17A>T (n.313-17A>T)
c.530A>T (p.Gln177Leu)
c.461A>T (p.Gln154Leu)
n.699A>T
n.519+2906A>T
c.*450A>T (n.*450A>T)
c.304-17A>T (n.304-17A>T)
c.698A>T (p.Gln233Leu)
9g.122381480A>CCA374780863PTGS1c.606A>C (p.Gln202His)
c.279A>C (p.Gln93His)
c.313-16A>C (n.313-16A>C)
c.531A>C (p.Gln177His)
c.462A>C (p.Gln154His)
n.700A>C
n.519+2907A>C
c.*451A>C (n.*451A>C)
c.304-16A>C (n.304-16A>C)
c.699A>C (p.Gln233His)
9g.122381480A>GCA467190957PTGS1c.606A>G (p.Gln202=)
c.279A>G (p.Gln93=)
c.313-16A>G (n.313-16A>G)
c.531A>G (p.Gln177=)
c.462A>G (p.Gln154=)
n.700A>G
n.519+2907A>G
c.*451A>G (n.*451A>G)
c.304-16A>G (n.304-16A>G)
c.699A>G (p.Gln233=)
9g.122381480A>TCA374780865PTGS1c.606A>T (p.Gln202His)
c.279A>T (p.Gln93His)
c.313-16A>T (n.313-16A>T)
c.531A>T (p.Gln177His)
c.462A>T (p.Gln154His)
n.700A>T
n.519+2907A>T
c.*451A>T (n.*451A>T)
c.304-16A>T (n.304-16A>T)
c.699A>T (p.Gln233His)
gnomAD v4
9g.122381481C>ACA374780873PTGS1c.607C>A (p.His203Asn)
c.280C>A (p.His94Asn)
c.313-15C>A (n.313-15C>A)
c.532C>A (p.His178Asn)
c.463C>A (p.His155Asn)
n.701C>A
n.519+2908C>A
c.*452C>A (n.*452C>A)
c.304-15C>A (n.304-15C>A)
c.700C>A (p.His234Asn)
9g.122381481C>GCA374780867PTGS1c.607C>G (p.His203Asp)
c.280C>G (p.His94Asp)
c.313-15C>G (n.313-15C>G)
c.532C>G (p.His178Asp)
c.463C>G (p.His155Asp)
n.701C>G
n.519+2908C>G
c.*452C>G (n.*452C>G)
c.304-15C>G (n.304-15C>G)
c.700C>G (p.His234Asp)
9g.122381481C>TCA374780870PTGS1c.607C>T (p.His203Tyr)
c.280C>T (p.His94Tyr)
c.313-15C>T (n.313-15C>T)
c.532C>T (p.His178Tyr)
c.463C>T (p.His155Tyr)
n.701C>T
n.519+2908C>T
c.*452C>T (n.*452C>T)
c.304-15C>T (n.304-15C>T)
c.700C>T (p.His234Tyr)
gnomAD v4
9g.122381482A>CCA374780877PTGS1c.608A>C (p.His203Pro)
c.281A>C (p.His94Pro)
c.313-14A>C (n.313-14A>C)
c.533A>C (p.His178Pro)
c.464A>C (p.His155Pro)
n.702A>C
n.519+2909A>C
c.*453A>C (n.*453A>C)
c.304-14A>C (n.304-14A>C)
c.701A>C (p.His234Pro)
gnomAD v4
9g.122381482A>GCA374780879PTGS1c.608A>G (p.His203Arg)
c.281A>G (p.His94Arg)
c.313-14A>G (n.313-14A>G)
c.533A>G (p.His178Arg)
c.464A>G (p.His155Arg)
n.702A>G
n.519+2909A>G
c.*453A>G (n.*453A>G)
c.304-14A>G (n.304-14A>G)
c.701A>G (p.His234Arg)
gnomAD v4
9g.122381482A>TCA374780881PTGS1c.608A>T (p.His203Leu)
c.281A>T (p.His94Leu)
c.313-14A>T (n.313-14A>T)
c.533A>T (p.His178Leu)
c.464A>T (p.His155Leu)
n.702A>T
n.519+2909A>T
c.*453A>T (n.*453A>T)
c.304-14A>T (n.304-14A>T)
c.701A>T (p.His234Leu)
gnomAD v4
9g.122381483C>ACA374780884PTGS1c.609C>A (p.His203Gln)
c.282C>A (p.His94Gln)
c.313-13C>A (n.313-13C>A)
c.534C>A (p.His178Gln)
c.465C>A (p.His155Gln)
n.703C>A
n.519+2910C>A
c.*454C>A (n.*454C>A)
c.304-13C>A (n.304-13C>A)
c.702C>A (p.His234Gln)
9g.122381483C>GCA374780890PTGS1c.609C>G (p.His203Gln)
c.282C>G (p.His94Gln)
c.313-13C>G (n.313-13C>G)
c.534C>G (p.His178Gln)
c.465C>G (p.His155Gln)
n.703C>G
n.519+2910C>G
c.*454C>G (n.*454C>G)
c.304-13C>G (n.304-13C>G)
c.702C>G (p.His234Gln)
9g.122381483C>TCA467190958PTGS1c.609C>T (p.His203=)
c.282C>T (p.His94=)
c.313-13C>T (n.313-13C>T)
c.534C>T (p.His178=)
c.465C>T (p.His155=)
n.703C>T
n.519+2910C>T
c.*454C>T (n.*454C>T)
c.304-13C>T (n.304-13C>T)
c.702C>T (p.His234=)
9g.122381484T>ACA374780891PTGS1c.610T>A (p.Phe204Ile)
c.283T>A (p.Phe95Ile)
c.313-12T>A (n.313-12T>A)
c.535T>A (p.Phe179Ile)
c.466T>A (p.Phe156Ile)
n.704T>A
n.519+2911T>A
c.*455T>A (n.*455T>A)
c.304-12T>A (n.304-12T>A)
c.703T>A (p.Phe235Ile)
9g.122381484T>CCA5224856PTGS1c.610T>C (p.Phe204Leu)
c.283T>C (p.Phe95Leu)
c.313-12T>C (n.313-12T>C)
c.535T>C (p.Phe179Leu)
c.466T>C (p.Phe156Leu)
n.704T>C
n.519+2911T>C
c.*455T>C (n.*455T>C)
c.304-12T>C (n.304-12T>C)
c.703T>C (p.Phe235Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.122381484T>GCA374780892PTGS1c.610T>G (p.Phe204Val)
c.283T>G (p.Phe95Val)
c.313-12T>G (n.313-12T>G)
c.535T>G (p.Phe179Val)
c.466T>G (p.Phe156Val)
n.704T>G
n.519+2911T>G
c.*455T>G (n.*455T>G)
c.304-12T>G (n.304-12T>G)
c.703T>G (p.Phe235Val)
9g.122381484T=CA1877496582PTGS1c.610T= (p.Phe204=)
c.283T= (p.Phe95=)
c.313-12T= (n.313-12T=)
c.535T= (p.Phe179=)
c.466T= (p.Phe156=)
n.704T=
n.519+2911T=
c.*455T= (n.*455T=)
c.304-12T= (n.304-12T=)
c.703T= (p.Phe235=)
9g.122381485T>ACA374780893PTGS1c.611T>A (p.Phe204Tyr)
c.284T>A (p.Phe95Tyr)
c.313-11T>A (n.313-11T>A)
c.536T>A (p.Phe179Tyr)
c.467T>A (p.Phe156Tyr)
n.705T>A
n.519+2912T>A
c.*456T>A (n.*456T>A)
c.304-11T>A (n.304-11T>A)
c.704T>A (p.Phe235Tyr)
9g.122381485T>CCA374780896PTGS1c.611T>C (p.Phe204Ser)
c.284T>C (p.Phe95Ser)
c.313-11T>C (n.313-11T>C)
c.536T>C (p.Phe179Ser)
c.467T>C (p.Phe156Ser)
n.705T>C
n.519+2912T>C
c.*456T>C (n.*456T>C)
c.304-11T>C (n.304-11T>C)
c.704T>C (p.Phe235Ser)
9g.122381485T>GCA374780897PTGS1c.611T>G (p.Phe204Cys)
c.284T>G (p.Phe95Cys)
c.313-11T>G (n.313-11T>G)
c.536T>G (p.Phe179Cys)
c.467T>G (p.Phe156Cys)
n.705T>G
n.519+2912T>G
c.*456T>G (n.*456T>G)
c.304-11T>G (n.304-11T>G)
c.704T>G (p.Phe235Cys)
9g.122381486C>ACA374780901PTGS1c.612C>A (p.Phe204Leu)
c.285C>A (p.Phe95Leu)
c.313-10C>A (n.313-10C>A)
c.537C>A (p.Phe179Leu)
c.468C>A (p.Phe156Leu)
n.706C>A
n.519+2913C>A
c.*457C>A (n.*457C>A)
c.304-10C>A (n.304-10C>A)
c.705C>A (p.Phe235Leu)
9g.122381486C>GCA374780902PTGS1c.612C>G (p.Phe204Leu)
c.285C>G (p.Phe95Leu)
c.313-10C>G (n.313-10C>G)
c.537C>G (p.Phe179Leu)
c.468C>G (p.Phe156Leu)
n.706C>G
n.519+2913C>G
c.*457C>G (n.*457C>G)
c.304-10C>G (n.304-10C>G)
c.705C>G (p.Phe235Leu)
9g.122381486C>TCA467190959PTGS1c.612C>T (p.Phe204=)
c.285C>T (p.Phe95=)
c.313-10C>T (n.313-10C>T)
c.537C>T (p.Phe179=)
c.468C>T (p.Phe156=)
n.706C>T
n.519+2913C>T
c.*457C>T (n.*457C>T)
c.304-10C>T (n.304-10C>T)
c.705C>T (p.Phe235=)
gnomAD v4
9g.122381487A>CCA374780903PTGS1c.613A>C (p.Thr205Pro)
c.286A>C (p.Thr96Pro)
c.313-9A>C (n.313-9A>C)
c.538A>C (p.Thr180Pro)
c.469A>C (p.Thr157Pro)
n.707A>C
n.519+2914A>C
c.*458A>C (n.*458A>C)
c.304-9A>C (n.304-9A>C)
c.706A>C (p.Thr236Pro)
9g.122381487A>GCA374780904PTGS1c.613A>G (p.Thr205Ala)
c.286A>G (p.Thr96Ala)
c.313-9A>G (n.313-9A>G)
c.538A>G (p.Thr180Ala)
c.469A>G (p.Thr157Ala)
n.707A>G
n.519+2914A>G
c.*458A>G (n.*458A>G)
c.304-9A>G (n.304-9A>G)
c.706A>G (p.Thr236Ala)
9g.122381487A>TCA374780905PTGS1c.613A>T (p.Thr205Ser)
c.286A>T (p.Thr96Ser)
c.313-9A>T (n.313-9A>T)
c.538A>T (p.Thr180Ser)
c.469A>T (p.Thr157Ser)
n.707A>T
n.519+2914A>T
c.*458A>T (n.*458A>T)
c.304-9A>T (n.304-9A>T)
c.706A>T (p.Thr236Ser)
9g.122381488C>ACA374780910PTGS1c.614C>A (p.Thr205Asn)
c.287C>A (p.Thr96Asn)
c.313-8C>A (n.313-8C>A)
c.539C>A (p.Thr180Asn)
c.470C>A (p.Thr157Asn)
n.708C>A
n.519+2915C>A
c.*459C>A (n.*459C>A)
c.304-8C>A (n.304-8C>A)
c.707C>A (p.Thr236Asn)
9g.122381488C=CA1877496583PTGS1c.614C= (p.Thr205=)
c.287C= (p.Thr96=)
c.313-8C= (n.313-8C=)
c.539C= (p.Thr180=)
c.470C= (p.Thr157=)
n.708C=
n.519+2915C=
c.*459C= (n.*459C=)
c.304-8C= (n.304-8C=)
c.707C= (p.Thr236=)
9g.122381488C>GCA374780912PTGS1c.614C>G (p.Thr205Ser)
c.287C>G (p.Thr96Ser)
c.313-8C>G (n.313-8C>G)
c.539C>G (p.Thr180Ser)
c.470C>G (p.Thr157Ser)
n.708C>G
n.519+2915C>G
c.*459C>G (n.*459C>G)
c.304-8C>G (n.304-8C>G)
c.707C>G (p.Thr236Ser)
9g.122381488C>TCA199478847PTGS1c.614C>T (p.Thr205Ile)
c.287C>T (p.Thr96Ile)
c.313-8C>T (n.313-8C>T)
c.539C>T (p.Thr180Ile)
c.470C>T (p.Thr157Ile)
n.708C>T
n.519+2915C>T
c.*459C>T (n.*459C>T)
c.304-8C>T (n.304-8C>T)
c.707C>T (p.Thr236Ile)
dbSNP

Number of alleles fetched