Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.122381388G>A | CA374780410 | PTGS1 | c.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) | |
9 | g.122381388G>C | CA374780412 | PTGS1 | c.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 |
9 | g.122381388G= | CA1877496546 | PTGS1 | c.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=) | |
9 | g.122381388G>T | CA374780413 | PTGS1 | c.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) | |
9 | g.122381389A>C | CA374780418 | PTGS1 | c.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) | |
9 | g.122381389A>G | CA374780417 | PTGS1 | c.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) | |
9 | g.122381389A>T | CA374780415 | PTGS1 | c.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) | |
9 | g.122381390T>A | CA5224838 | PTGS1 | c.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 |
9 | g.122381390T>C | CA467190897 | PTGS1 | c.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=) | |
9 | g.122381390T>G | CA374780420 | PTGS1 | c.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) | |
9 | g.122381390T= | CA1877496547 | PTGS1 | c.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=) | |
9 | g.122381391G>A | CA374780426 | PTGS1 | c.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) | |
9 | g.122381391G>C | CA374780422 | PTGS1 | c.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) | |
9 | g.122381391G>T | CA374780425 | PTGS1 | c.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) | |
9 | g.122381392C>A | CA374780427 | PTGS1 | c.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) | |
9 | g.122381392C>G | CA374780429 | PTGS1 | c.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) | |
9 | g.122381392C>T | CA374780431 | PTGS1 | c.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) | |
9 | g.122381393C>A | CA467190898 | PTGS1 | c.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 |
9 | g.122381393C>G | CA467190899 | PTGS1 | c.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=) | |
9 | g.122381393C>T | CA467190900 | PTGS1 | c.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=) | |
9 | g.122381393_122381395del | CA2691551906 | PTGS1 | c.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 |
9 | g.122381394C>A | CA374780432 | PTGS1 | c.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) | |
9 | g.122381394C>G | CA374780434 | PTGS1 | c.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) | |
9 | g.122381394C>T | CA374780436 | PTGS1 | c.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 |
9 | g.122381395A>C | CA374780440 | PTGS1 | c.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) | |
9 | g.122381395A>G | CA374780442 | PTGS1 | c.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) | |
9 | g.122381395A>T | CA374780444 | PTGS1 | c.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) | |
9 | g.122381396G>A | CA467190901 | PTGS1 | c.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=) | |
9 | g.122381396G>C | CA374780446 | PTGS1 | c.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) | |
9 | g.122381396G>T | CA374780447 | PTGS1 | c.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) | |
9 | g.122381397C>A | CA374780449 | PTGS1 | c.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) | |
9 | g.122381397C= | CA1877496548 | PTGS1 | c.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=) | |
9 | g.122381397C>G | CA374780448 | PTGS1 | c.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 |
9 | g.122381397C>T | CA5224839 | PTGS1 | c.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 |
9 | g.122381398_122381406del | CA2691551907 | PTGS1 | c.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 |
9 | g.122381398T>A | CA374780450 | PTGS1 | c.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) | |
9 | g.122381398T>C | CA374780451 | PTGS1 | c.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 |
9 | g.122381398T>G | CA374780453 | PTGS1 | c.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) | |
9 | g.122381399C>A | CA5224840 | PTGS1 | c.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 |
9 | g.122381399C= | CA1877496549 | PTGS1 | c.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=) | |
9 | g.122381399C>G | CA467190903 | PTGS1 | c.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 |
9 | g.122381399C>T | CA467190902 | PTGS1 | c.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=) | |
9 | g.122381400C>A | CA374780455 | PTGS1 | c.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) | |
9 | g.122381400C>G | CA374780457 | PTGS1 | c.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) | |
9 | g.122381400C>T | CA467190904 | PTGS1 | c.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=) | |
9 | g.122381401T>A | CA374780459 | PTGS1 | c.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) | |
9 | g.122381401T>C | CA374780461 | PTGS1 | c.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) | |
9 | g.122381401T>G | CA374780463 | PTGS1 | c.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) | |
9 | g.122381402G>A | CA467190905 | PTGS1 | c.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=) | |
9 | g.122381402G>C | CA467190906 | PTGS1 | c.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 |
9 | g.122381402G= | CA1877496550 | PTGS1 | c.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=) | |
9 | g.122381402G>T | CA467190907 | PTGS1 | c.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=) | |
9 | g.122381403G>A | CA374780464 | PTGS1 | c.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 |
9 | g.122381403G>C | CA374780465 | PTGS1 | c.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) | |
9 | g.122381403G= | CA1877496551 | PTGS1 | c.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=) | |
9 | g.122381403G>T | CA374780466 | PTGS1 | c.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) | |
9 | g.122381404C>A | CA374780471 | PTGS1 | c.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 |
9 | g.122381404C= | CA1877496552 | PTGS1 | c.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=) | |
9 | g.122381404C>G | CA374780470 | PTGS1 | c.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) | |
9 | g.122381404C>T | CA374780468 | PTGS1 | c.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 |
9 | g.122381405C>A | CA467190908 | PTGS1 | c.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=) | |
9 | g.122381405C>G | CA467190909 | PTGS1 | c.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=) | |
9 | g.122381405C>T | CA467190910 | PTGS1 | c.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=) | |
9 | g.122381406C>A | CA374780473 | PTGS1 | c.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 |
9 | g.122381406C= | CA1877496553 | PTGS1 | c.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=) | |
9 | g.122381406C>G | CA374780474 | PTGS1 | c.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) | |
9 | g.122381406C>T | CA5224841 | PTGS1 | c.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 |
9 | g.122381407G>A | CA5224842 | PTGS1 | c.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 |
9 | g.122381407G>C | CA374780479 | PTGS1 | c.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) | |
9 | g.122381407G= | CA1877496554 | PTGS1 | c.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=) | |
9 | g.122381407G>T | CA374780480 | PTGS1 | c.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 |
9 | g.122381408C>A | CA467190911 | PTGS1 | c.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=) | |
9 | g.122381408C>G | CA467190912 | PTGS1 | c.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=) | |
9 | g.122381408C>T | CA467190913 | PTGS1 | c.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=) | |
9 | g.122381409C>A | CA374780482 | PTGS1 | c.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) | |
9 | g.122381409C= | CA1877496555 | PTGS1 | c.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=) | |
9 | g.122381409C>G | CA374780484 | PTGS1 | c.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) | |
9 | g.122381409C>T | CA5224843 | PTGS1 | c.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 |
9 | g.122381409_122381410insAGGA | CA590503346 | PTGS1 | c.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 |
9 | g.122381410G>A | CA5224844 | PTGS1 | c.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 |
9 | g.122381410G>C | CA374780486 | PTGS1 | c.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) | |
9 | g.122381410G= | CA1877496556 | PTGS1 | c.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=) | |
9 | g.122381410G>T | CA374780487 | PTGS1 | c.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) | |
9 | g.122381411C>A | CA467190914 | PTGS1 | c.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=) | |
9 | g.122381411C>G | CA467190915 | PTGS1 | c.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=) | |
9 | g.122381411C>T | CA467190916 | PTGS1 | c.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 |
9 | g.122381412T>A | CA374780489 | PTGS1 | c.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) | |
9 | g.122381412T>C | CA374780490 | PTGS1 | c.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) | |
9 | g.122381412T>G | CA374780488 | PTGS1 | c.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) | |
9 | g.122381413T>A | CA374780491 | PTGS1 | c.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) | |
9 | g.122381413T>C | CA374780494 | PTGS1 | c.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) | |
9 | g.122381413T>G | CA374780496 | PTGS1 | c.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) | |
9 | g.122381414C>A | CA374780498 | PTGS1 | c.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) | |
9 | g.122381414C= | CA1877496557 | PTGS1 | c.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=) | |
9 | g.122381414C>G | CA5224845 | PTGS1 | c.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 |
9 | g.122381414C>T | CA467190917 | PTGS1 | c.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 |
9 | g.122381415C>A | CA374780502 | PTGS1 | c.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 |
9 | g.122381415C= | CA1877496558 | PTGS1 | c.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=) | |
9 | g.122381415C>G | CA374780500 | PTGS1 | c.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) | |
9 | g.122381415C>T | CA467190918 | PTGS1 | c.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 |
9 | g.122381416T>A | CA374780504 | PTGS1 | c.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) | |
9 | g.122381416T>C | CA374780506 | PTGS1 | c.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) | |
9 | g.122381416T>G | CA374780511 | PTGS1 | c.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) | |
9 | g.122381417G>A | CA5224846 | PTGS1 | c.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 |
9 | g.122381417G>C | CA467190919 | PTGS1 | c.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=) | |
9 | g.122381417G= | CA1877496559 | PTGS1 | c.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=) | |
9 | g.122381417G>T | CA467190920 | PTGS1 | c.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 |
9 | g.122381418C>A | CA374780514 | PTGS1 | c.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) | |
9 | g.122381418C>G | CA374780515 | PTGS1 | c.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 |
9 | g.122381418C>T | CA374780517 | PTGS1 | c.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) | |
9 | g.122381419T>A | CA374780522 | PTGS1 | c.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) | |
9 | g.122381419T>C | CA374780524 | PTGS1 | c.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) | |
9 | g.122381419T>G | CA374780520 | PTGS1 | c.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) | |
9 | g.122381420C>A | CA467190921 | PTGS1 | c.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=) | |
9 | g.122381420C>G | CA467190923 | PTGS1 | c.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 |
9 | g.122381420C>T | CA467190922 | PTGS1 | c.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 |
9 | g.122381421A= | CA1877496560 | PTGS1 | c.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=) | |
9 | g.122381421A>C | CA467190924 | PTGS1 | c.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=) | |
9 | g.122381421A>G | CA374780526 | PTGS1 | c.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) | |
9 | g.122381421A>T | CA5224847 | PTGS1 | c.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 |
9 | g.122381422G>A | CA374780528 | PTGS1 | c.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) | |
9 | g.122381422G>C | CA374780532 | PTGS1 | c.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) | |
9 | g.122381422G>T | CA374780530 | PTGS1 | c.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) | |
9 | g.122381423G>A | CA467190925 | PTGS1 | c.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=) | |
9 | g.122381423G>C | CA374780534 | PTGS1 | c.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) | |
9 | g.122381423G>T | CA374780536 | PTGS1 | c.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) | |
9 | g.122381424A>C | CA467190926 | PTGS1 | c.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=) | |
9 | g.122381424A>G | CA374780537 | PTGS1 | c.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) | |
9 | g.122381424A>T | CA374780539 | PTGS1 | c.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) | |
9 | g.122381425G>A | CA374780540 | PTGS1 | c.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 |
9 | g.122381425G>C | CA374780541 | PTGS1 | c.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) | |
9 | g.122381425G= | CA1877496561 | PTGS1 | c.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=) | |
9 | g.122381425G>T | CA374780543 | PTGS1 | c.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) | |
9 | g.122381426G>A | CA467190927 | PTGS1 | c.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=) | |
9 | g.122381426G>C | CA374780545 | PTGS1 | c.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) | |
9 | g.122381426G>T | CA374780546 | PTGS1 | c.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) | |
9 | g.122381426_122381427dup | CA2691551908 | PTGS1 | c.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 |
9 | g.122381427A>C | CA374780548 | PTGS1 | c.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) | |
9 | g.122381427A>G | CA374780550 | PTGS1 | c.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) | |
9 | g.122381427A>T | CA374780552 | PTGS1 | c.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) | |
9 | g.122381428A= | CA1877496562 | PTGS1 | c.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=) | |
9 | g.122381428A>C | CA5224848 | PTGS1 | c.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 |
9 | g.122381428A>G | CA374780557 | PTGS1 | c.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 |
9 | g.122381428A>T | CA374780554 | PTGS1 | c.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) | |
9 | g.122381429G>A | CA467190928 | PTGS1 | c.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 |
9 | g.122381429G>C | CA374780561 | PTGS1 | c.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) | |
9 | g.122381429G>T | CA374780564 | PTGS1 | c.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) | |
9 | g.122381430T>A | CA374780566 | PTGS1 | c.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) | |
9 | g.122381430T>C | CA374780568 | PTGS1 | c.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) | |
9 | g.122381430T>G | CA374780569 | PTGS1 | c.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) | |
9 | g.122381431T>A | CA374780571 | PTGS1 | c.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) | |
9 | g.122381431T>C | CA374780574 | PTGS1 | c.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 |
9 | g.122381431T>G | CA374780580 | PTGS1 | c.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) | |
9 | g.122381432C>A | CA374780588 | PTGS1 | c.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) | |
9 | g.122381432C>G | CA374780592 | PTGS1 | c.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) | |
9 | g.122381432C>T | CA467190929 | PTGS1 | c.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=) | |
9 | g.122381433A>C | CA374780600 | PTGS1 | c.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) | |
9 | g.122381433A>G | CA374780602 | PTGS1 | c.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) | |
9 | g.122381433A>T | CA374780594 | PTGS1 | c.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) | |
9 | g.122381434T>A | CA374780605 | PTGS1 | c.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) | |
9 | g.122381434T>C | CA374780607 | PTGS1 | c.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 |
9 | g.122381434T>G | CA374780611 | PTGS1 | c.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) | |
9 | g.122381435A= | CA1877496563 | PTGS1 | c.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=) | |
9 | g.122381435A>C | CA467190930 | PTGS1 | c.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=) | |
9 | g.122381435A>G | CA374780614 | PTGS1 | c.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 |
9 | g.122381435A>T | CA467190931 | PTGS1 | c.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=) | |
9 | g.122381436C>A | CA374780617 | PTGS1 | c.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) | |
9 | g.122381436C= | CA1877496564 | PTGS1 | c.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=) | |
9 | g.122381436C>G | CA374780619 | PTGS1 | c.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 |
9 | g.122381436C>T | CA374780622 | PTGS1 | c.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 |
9 | g.122381437C>A | CA374780625 | PTGS1 | c.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) | |
9 | g.122381437C= | CA1877496565 | PTGS1 | c.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=) | |
9 | g.122381437C>G | CA374780627 | PTGS1 | c.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 |
9 | g.122381437C>T | CA374780629 | PTGS1 | c.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) | |
9 | g.122381438T>A | CA467190932 | PTGS1 | c.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=) | |
9 | g.122381438T>C | CA467190933 | PTGS1 | c.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=) | |
9 | g.122381438T>G | CA467190934 | PTGS1 | c.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=) | |
9 | g.122381439G>A | CA374780631 | PTGS1 | c.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) | |
9 | g.122381439G>C | CA374780634 | PTGS1 | c.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) | |
9 | g.122381439G>T | CA374780636 | PTGS1 | c.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) | |
9 | g.122381440A>C | CA374780642 | PTGS1 | c.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) | |
9 | g.122381440A>G | CA374780641 | PTGS1 | c.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) | |
9 | g.122381440A>T | CA374780639 | PTGS1 | c.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) | |
9 | g.122381441C>A | CA199478771 | PTGS1 | c.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 |
9 | g.122381441C= | CA1877496566 | PTGS1 | c.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=) | |
9 | g.122381441C>G | CA374780647 | PTGS1 | c.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 |
9 | g.122381441C>T | CA467190935 | PTGS1 | c.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 |
9 | g.122381442C>A | CA5224849 | PTGS1 | c.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 |
9 | g.122381442C= | CA1877496567 | PTGS1 | c.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=) | |
9 | g.122381442C>G | CA374780651 | PTGS1 | c.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) | |
9 | g.122381442C>T | CA374780654 | PTGS1 | c.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 |
9 | g.122381443C>A | CA374780656 | PTGS1 | c.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) | |
9 | g.122381443C>G | CA374780659 | PTGS1 | c.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) | |
9 | g.122381443C>T | CA374780662 | PTGS1 | c.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) | |
9 | g.122381444C>A | CA467190937 | PTGS1 | c.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=) | |
9 | g.122381444C= | CA1877496568 | PTGS1 | c.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=) | |
9 | g.122381444C>G | CA5224850 | PTGS1 | c.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 |
9 | g.122381444C>T | CA467190936 | PTGS1 | c.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 |
9 | g.122381445C>A | CA5224851 | PTGS1 | c.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 |
9 | g.122381445C= | CA1877496569 | PTGS1 | c.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=) | |
9 | g.122381445C>G | CA374780670 | PTGS1 | c.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) | |
9 | g.122381445C>T | CA374780672 | PTGS1 | c.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) | |
9 | g.122381445_122381446del | CA2539418483 | PTGS1 | c.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?) | |
9 | g.122381446A= | CA1877496570 | PTGS1 | c.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=) | |
9 | g.122381446A>C | CA374780680 | PTGS1 | c.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) | |
9 | g.122381446A>G | CA374780677 | PTGS1 | c.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 |
9 | g.122381446A>T | CA374780675 | PTGS1 | c.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) | |
9 | g.122381447A>C | CA374780683 | PTGS1 | c.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) | |
9 | g.122381447A>G | CA467190938 | PTGS1 | c.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 |
9 | g.122381447A>T | CA374780684 | PTGS1 | c.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) | |
9 | g.122381448G>A | CA5224852 | PTGS1 | c.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 |
9 | g.122381448G>C | CA374780688 | PTGS1 | c.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) | |
9 | g.122381448G= | CA1877496571 | PTGS1 | c.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=) | |
9 | g.122381448G>T | CA374780691 | PTGS1 | c.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) | |
9 | g.122381448_122381449dup | CA2516246815 | PTGS1 | c.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?) | |
9 | g.122381449del | CA2691551909 | PTGS1 | c.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 |
9 | g.122381449G>A | CA374780694 | PTGS1 | c.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 |
9 | g.122381449G>C | CA374780695 | PTGS1 | c.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) | |
9 | g.122381449G= | CA1877496572 | PTGS1 | c.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=) | |
9 | g.122381449G>T | CA374780697 | PTGS1 | c.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) | |
9 | g.122381450C>A | CA467190939 | PTGS1 | c.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=) | |
9 | g.122381450C>G | CA467190940 | PTGS1 | c.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=) | |
9 | g.122381450C>T | CA467190941 | PTGS1 | c.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=) | |
9 | g.122381451A>C | CA374780700 | PTGS1 | c.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) | |
9 | g.122381451A>G | CA374780703 | PTGS1 | c.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) | |
9 | g.122381451A>T | CA374780706 | PTGS1 | c.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) | |
9 | g.122381452C>A | CA374780709 | PTGS1 | c.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) | |
9 | g.122381452C>G | CA374780712 | PTGS1 | c.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) | |
9 | g.122381452C>T | CA374780714 | PTGS1 | c.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) | |
9 | g.122381453C>A | CA467190942 | PTGS1 | c.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=) | |
9 | g.122381453C>G | CA467190943 | PTGS1 | c.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=) | |
9 | g.122381453C>T | CA467190944 | PTGS1 | c.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 |
9 | g.122381454A>C | CA374780723 | PTGS1 | c.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) | |
9 | g.122381454A>G | CA374780720 | PTGS1 | c.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) | |
9 | g.122381454A>T | CA374780717 | PTGS1 | c.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) | |
9 | g.122381455A= | CA1877496573 | PTGS1 | c.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=) | |
9 | g.122381455A>C | CA374780724 | PTGS1 | c.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) | |
9 | g.122381455A>G | CA5224853 | PTGS1 | c.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 |
9 | g.122381455A>T | CA374780727 | PTGS1 | c.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) | |
9 | g.122381455_122381456insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA | CA1128881689 | PTGS1 | c.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 |
9 | g.122381456C>A | CA374780731 | PTGS1 | c.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 |
9 | g.122381456C= | CA1877496574 | PTGS1 | c.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=) | |
9 | g.122381456C>G | CA374780734 | PTGS1 | c.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) | |
9 | g.122381456C>T | CA199478816 | PTGS1 | c.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 |
9 | g.122381457C>A | CA374780737 | PTGS1 | c.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) | |
9 | g.122381457C= | CA1877496575 | PTGS1 | c.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=) | |
9 | g.122381457C>G | CA374780741 | PTGS1 | c.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 |
9 | g.122381457C>T | CA199478835 | PTGS1 | c.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 |
9 | g.122381457_122381458insCACTTACGGGCCAGCTGCATAAAAA | CA1128881691 | PTGS1 | c.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 |
9 | g.122381458T>A | CA374780746 | PTGS1 | c.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) | |
9 | g.122381458T>C | CA199478840 | PTGS1 | c.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 |
9 | g.122381458T>G | CA374780748 | PTGS1 | c.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) | |
9 | g.122381458T= | CA1877496576 | PTGS1 | c.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=) | |
9 | g.122381459C>A | CA467190945 | PTGS1 | c.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=) | |
9 | g.122381459C>G | CA467190946 | PTGS1 | c.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=) | |
9 | g.122381459C>T | CA467190947 | PTGS1 | c.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=) | |
9 | g.122381460A>C | CA374780754 | PTGS1 | c.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 |
9 | g.122381460A>G | CA374780753 | PTGS1 | c.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) | |
9 | g.122381460A>T | CA374780750 | PTGS1 | c.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) | |
9 | g.122381461_122381462insTTAGAAAGCTGAT | CA1128881693 | PTGS1 | c.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 |
9 | g.122381461T>A | CA374780757 | PTGS1 | c.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 |
9 | g.122381461T>C | CA374780760 | PTGS1 | c.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 |
9 | g.122381461T>G | CA374780763 | PTGS1 | c.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) | |
9 | g.122381462G>A | CA374780766 | PTGS1 | c.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) | |
9 | g.122381462G>C | CA374780767 | PTGS1 | c.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) | |
9 | g.122381462G>T | CA374780769 | PTGS1 | c.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 |
9 | g.122381463T>A | CA374780776 | PTGS1 | c.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) | |
9 | g.122381463T>C | CA374780770 | PTGS1 | c.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 |
9 | g.122381463T>G | CA374780772 | PTGS1 | c.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) | |
9 | g.122381464T>A | CA374780779 | PTGS1 | c.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) | |
9 | g.122381464T>C | CA374780781 | PTGS1 | c.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 |
9 | g.122381464T>G | CA374780784 | PTGS1 | c.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) | |
9 | g.122381465T>A | CA374780786 | PTGS1 | c.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) | |
9 | g.122381465T>C | CA467190948 | PTGS1 | c.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 |
9 | g.122381465T>G | CA374780788 | PTGS1 | c.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) | |
9 | g.122381466G>A | CA5224854 | PTGS1 | c.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 |
9 | g.122381466G>C | CA374780793 | PTGS1 | c.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) | |
9 | g.122381466G= | CA1877496577 | PTGS1 | c.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=) | |
9 | g.122381466G>T | CA374780790 | PTGS1 | c.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) | |
9 | g.122381467C>A | CA374780796 | PTGS1 | c.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) | |
9 | g.122381467C= | CA1877496578 | PTGS1 | c.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=) | |
9 | g.122381467C>G | CA374780797 | PTGS1 | c.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 |
9 | g.122381467C>T | CA374780801 | PTGS1 | c.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 |
9 | g.122381468C>A | CA467190951 | PTGS1 | c.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=) | |
9 | g.122381468C>G | CA467190950 | PTGS1 | c.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 |
9 | g.122381468C>T | CA467190949 | PTGS1 | c.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=) | |
9 | g.122381469T>A | CA374780803 | PTGS1 | c.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) | |
9 | g.122381469T>C | CA374780806 | PTGS1 | c.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) | |
9 | g.122381469T>G | CA374780809 | PTGS1 | c.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 |
9 | g.122381470T>A | CA374780811 | PTGS1 | c.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) | |
9 | g.122381470T>C | CA374780813 | PTGS1 | c.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) | |
9 | g.122381470T>G | CA374780816 | PTGS1 | c.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) | |
9 | g.122381471C>A | CA374780818 | PTGS1 | c.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) | |
9 | g.122381471C= | CA1877496579 | PTGS1 | c.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=) | |
9 | g.122381471C>G | CA5224855 | PTGS1 | c.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 |
9 | g.122381471C>T | CA467190952 | PTGS1 | c.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=) | |
9 | g.122381472T>A | CA374780823 | PTGS1 | c.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) | |
9 | g.122381472T>C | CA374780829 | PTGS1 | c.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 |
9 | g.122381472T>G | CA374780825 | PTGS1 | c.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) | |
9 | g.122381472T= | CA1877496580 | PTGS1 | c.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=) | |
9 | g.122381473T>A | CA374780832 | PTGS1 | c.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) | |
9 | g.122381473T>C | CA374780837 | PTGS1 | c.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) | |
9 | g.122381473T>G | CA374780834 | PTGS1 | c.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) | |
9 | g.122381474T>A | CA374780839 | PTGS1 | c.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) | |
9 | g.122381474T>C | CA467190953 | PTGS1 | c.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=) | |
9 | g.122381474T>G | CA374780841 | PTGS1 | c.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) | |
9 | g.122381475G>A | CA374780843 | PTGS1 | c.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) | |
9 | g.122381475G>C | CA374780847 | PTGS1 | c.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) | |
9 | g.122381475G>T | CA374780845 | PTGS1 | c.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) | |
9 | g.122381476C>A | CA374780850 | PTGS1 | c.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) | |
9 | g.122381476C>G | CA374780852 | PTGS1 | c.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) | |
9 | g.122381476C>T | CA374780853 | PTGS1 | c.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) | |
9 | g.122381477A>C | CA467190954 | PTGS1 | c.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=) | |
9 | g.122381477A>G | CA467190955 | PTGS1 | c.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 |
9 | g.122381477A>T | CA467190956 | PTGS1 | c.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=) | |
9 | g.122381478C>A | CA374780854 | PTGS1 | c.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 |
9 | g.122381478C= | CA1877496581 | PTGS1 | c.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=) | |
9 | g.122381478C>G | CA374780855 | PTGS1 | c.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) | |
9 | g.122381478C>T | CA374780856 | PTGS1 | c.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 |
9 | g.122381479A>C | CA374780857 | PTGS1 | c.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) | |
9 | g.122381479A>G | CA374780858 | PTGS1 | c.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) | |
9 | g.122381479A>T | CA374780861 | PTGS1 | c.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) | |
9 | g.122381480A>C | CA374780863 | PTGS1 | c.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) | |
9 | g.122381480A>G | CA467190957 | PTGS1 | c.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=) | |
9 | g.122381480A>T | CA374780865 | PTGS1 | c.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 |
9 | g.122381481C>A | CA374780873 | PTGS1 | c.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) | |
9 | g.122381481C>G | CA374780867 | PTGS1 | c.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) | |
9 | g.122381481C>T | CA374780870 | PTGS1 | c.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 |
9 | g.122381482A>C | CA374780877 | PTGS1 | c.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 |
9 | g.122381482A>G | CA374780879 | PTGS1 | c.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 |
9 | g.122381482A>T | CA374780881 | PTGS1 | c.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 |
9 | g.122381483C>A | CA374780884 | PTGS1 | c.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) | |
9 | g.122381483C>G | CA374780890 | PTGS1 | c.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) | |
9 | g.122381483C>T | CA467190958 | PTGS1 | c.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=) | |
9 | g.122381484T>A | CA374780891 | PTGS1 | c.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) | |
9 | g.122381484T>C | CA5224856 | PTGS1 | c.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 |
9 | g.122381484T>G | CA374780892 | PTGS1 | c.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) | |
9 | g.122381484T= | CA1877496582 | PTGS1 | c.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=) | |
9 | g.122381485T>A | CA374780893 | PTGS1 | c.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) | |
9 | g.122381485T>C | CA374780896 | PTGS1 | c.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) | |
9 | g.122381485T>G | CA374780897 | PTGS1 | c.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) | |
9 | g.122381486C>A | CA374780901 | PTGS1 | c.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) | |
9 | g.122381486C>G | CA374780902 | PTGS1 | c.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) | |
9 | g.122381486C>T | CA467190959 | PTGS1 | c.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 |
9 | g.122381487A>C | CA374780903 | PTGS1 | c.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) | |
9 | g.122381487A>G | CA374780904 | PTGS1 | c.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) | |
9 | g.122381487A>T | CA374780905 | PTGS1 | c.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) | |
9 | g.122381488C>A | CA374780910 | PTGS1 | c.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) | |
9 | g.122381488C= | CA1877496583 | PTGS1 | c.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=) | |
9 | g.122381488C>G | CA374780912 | PTGS1 | c.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) | |
9 | g.122381488C>T | CA199478847 | PTGS1 | c.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 |