Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.21570341A>C | CA338879942 | ALPL | c.829A>C (p.Thr277Pro) c.39A>C c.598A>C (p.Thr200Pro) c.664A>C (p.Thr222Pro) c.673A>C (p.Thr225Pro) | |
1 | g.21570341A>G | CA338879943 | ALPL | c.829A>G (p.Thr277Ala) c.39A>G c.598A>G (p.Thr200Ala) c.664A>G (p.Thr222Ala) c.673A>G (p.Thr225Ala) | |
1 | g.21570341A>T | CA338879944 | ALPL | c.829A>T (p.Thr277Ser) c.39A>T c.598A>T (p.Thr200Ser) c.664A>T (p.Thr222Ser) c.673A>T (p.Thr225Ser) | |
1 | g.21570342C>A | CA338879947 | ALPL | c.830C>A (p.Thr277Asn) c.40C>A c.599C>A (p.Thr200Asn) c.665C>A (p.Thr222Asn) c.674C>A (p.Thr225Asn) | |
1 | g.21570342C>G | CA338879946 | ALPL | c.830C>G (p.Thr277Ser) c.40C>G c.599C>G (p.Thr200Ser) c.665C>G (p.Thr222Ser) c.674C>G (p.Thr225Ser) | |
1 | g.21570342C>T | CA338879945 | ALPL | c.830C>T (p.Thr277Ile) c.40C>T c.599C>T (p.Thr200Ile) c.665C>T (p.Thr222Ile) c.674C>T (p.Thr225Ile) | gnomAD v3 gnomAD v4 |
1 | g.21570343C>A | CA416530950 | ALPL | c.831C>A (p.Thr277=) c.41C>A c.600C>A (p.Thr200=) c.666C>A (p.Thr222=) c.675C>A (p.Thr225=) | ClinVar dbSNP gnomAD v2 |
1 | g.21570343C= | CA1158016967 | ALPL | c.831C= (p.Thr277=) c.41C= c.600C= (p.Thr200=) c.666C= (p.Thr222=) c.675C= (p.Thr225=) | |
1 | g.21570343C>G | CA416530952 | ALPL | c.831C>G (p.Thr277=) c.41C>G c.600C>G (p.Thr200=) c.666C>G (p.Thr222=) c.675C>G (p.Thr225=) | ClinVar dbSNP |
1 | g.21570343C>T | CA416530948 | ALPL | c.831C>T (p.Thr277=) c.41C>T c.600C>T (p.Thr200=) c.666C>T (p.Thr222=) c.675C>T (p.Thr225=) | ClinVar dbSNP gnomAD v4 |
1 | g.21570344C>A | CA338879948 | ALPL | c.832C>A (p.Leu278Ile) c.42C>A c.601C>A (p.Leu201Ile) c.667C>A (p.Leu223Ile) c.676C>A (p.Leu226Ile) | |
1 | g.21570344C>G | CA338879949 | ALPL | c.832C>G (p.Leu278Val) c.42C>G c.601C>G (p.Leu201Val) c.667C>G (p.Leu223Val) c.676C>G (p.Leu226Val) | gnomAD v4 |
1 | g.21570344C>T | CA338879950 | ALPL | c.832C>T (p.Leu278Phe) c.42C>T c.601C>T (p.Leu201Phe) c.667C>T (p.Leu223Phe) c.676C>T (p.Leu226Phe) | |
1 | g.21570345T>A | CA338879951 | ALPL | c.833T>A (p.Leu278His) c.43T>A c.602T>A (p.Leu201His) c.668T>A (p.Leu223His) c.677T>A (p.Leu226His) | gnomAD v4 |
1 | g.21570345T>C | CA338879952 | ALPL | c.833T>C (p.Leu278Pro) c.43T>C c.602T>C (p.Leu201Pro) c.668T>C (p.Leu223Pro) c.677T>C (p.Leu226Pro) | ClinVar dbSNP |
1 | g.21570345T>G | CA338879953 | ALPL | c.833T>G (p.Leu278Arg) c.43T>G c.602T>G (p.Leu201Arg) c.668T>G (p.Leu223Arg) c.677T>G (p.Leu226Arg) | |
1 | g.21570346T>A | CA416530961 | ALPL | c.834T>A (p.Leu278=) c.44T>A c.603T>A (p.Leu201=) c.669T>A (p.Leu223=) c.678T>A (p.Leu226=) | |
1 | g.21570346T>C | CA416530957 | ALPL | c.834T>C (p.Leu278=) c.44T>C c.603T>C (p.Leu201=) c.669T>C (p.Leu223=) c.678T>C (p.Leu226=) | |
1 | g.21570346T>G | CA416530959 | ALPL | c.834T>G (p.Leu278=) c.44T>G c.603T>G (p.Leu201=) c.669T>G (p.Leu223=) c.678T>G (p.Leu226=) | |
1 | g.21570347G>A | CA338879954 | ALPL | c.835G>A (p.Asp279Asn) c.45G>A c.604G>A (p.Asp202Asn) c.670G>A (p.Asp224Asn) c.679G>A (p.Asp227Asn) | |
1 | g.21570347G>C | CA338879955 | ALPL | c.835G>C (p.Asp279His) c.45G>C c.604G>C (p.Asp202His) c.670G>C (p.Asp224His) c.679G>C (p.Asp227His) | dbSNP gnomAD v2 |
1 | g.21570347G= | CA1158016968 | ALPL | c.835G= (p.Asp279=) c.45G= c.604G= (p.Asp202=) c.670G= (p.Asp224=) c.679G= (p.Asp227=) | |
1 | g.21570347G>T | CA338879956 | ALPL | c.835G>T (p.Asp279Tyr) c.45G>T c.604G>T (p.Asp202Tyr) c.670G>T (p.Asp224Tyr) c.679G>T (p.Asp227Tyr) | |
1 | g.21570348A>C | CA338879957 | ALPL | c.836A>C (p.Asp279Ala) c.46A>C c.605A>C (p.Asp202Ala) c.671A>C (p.Asp224Ala) c.680A>C (p.Asp227Ala) | |
1 | g.21570348A>G | CA338879958 | ALPL | c.836A>G (p.Asp279Gly) c.46A>G c.605A>G (p.Asp202Gly) c.671A>G (p.Asp224Gly) c.680A>G (p.Asp227Gly) | |
1 | g.21570348A>T | CA338879959 | ALPL | c.836A>T (p.Asp279Val) c.46A>T c.605A>T (p.Asp202Val) c.671A>T (p.Asp224Val) c.680A>T (p.Asp227Val) | |
1 | g.21570348_21570349delinsAC | CA1158016969 | ALPL | c.836_837delinsAC (p.Asp279=) c.46_47delinsAC c.605_606delinsAC (p.Asp202=) c.671_672delinsAC (p.Asp224=) c.680_681delinsAC (p.Asp227=) | |
1 | g.21570349C>A | CA338879961 | ALPL | c.837C>A (p.Asp279Glu) c.47C>A c.606C>A (p.Asp202Glu) c.672C>A (p.Asp224Glu) c.681C>A (p.Asp227Glu) | |
1 | g.21570349C= | CA1158016970 | ALPL | c.837C= (p.Asp279=) c.47C= c.606C= (p.Asp202=) c.672C= (p.Asp224=) c.681C= (p.Asp227=) | |
1 | g.21570349C>G | CA338879960 | ALPL | c.837C>G (p.Asp279Glu) c.47C>G c.606C>G (p.Asp202Glu) c.672C>G (p.Asp224Glu) c.681C>G (p.Asp227Glu) | |
1 | g.21570349C>T | CA416530966 | ALPL | c.837C>T (p.Asp279=) c.47C>T c.606C>T (p.Asp202=) c.672C>T (p.Asp224=) c.681C>T (p.Asp227=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.21570353dup | CA731320306 | ALPL | c.841dup (p.His281ProfsTer?) c.51dup c.610dup (p.His204ProfsTer?) c.676dup (p.His226ProfsTer?) c.685dup (p.His229ProfsTer?) | dbSNP gnomAD v4 |
1 | g.21570353del | CA16040718 | ALPL | c.841del (p.His281ThrfsTer19) c.51del c.610del (p.His204ThrfsTer19) c.676del (p.His226ThrfsTer19) c.685del (p.His229ThrfsTer19) | ClinVar dbSNP |
1 | g.21570350C>A | CA666631 | ALPL | c.838C>A (p.Pro280Thr) c.48C>A c.607C>A (p.Pro203Thr) c.673C>A (p.Pro225Thr) c.682C>A (p.Pro228Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570350C= | CA1158016971 | ALPL | c.838C= (p.Pro280=) c.48C= c.607C= (p.Pro203=) c.673C= (p.Pro225=) c.682C= (p.Pro228=) | |
1 | g.21570350C>G | CA338879962 | ALPL | c.838C>G (p.Pro280Ala) c.48C>G c.607C>G (p.Pro203Ala) c.673C>G (p.Pro225Ala) c.682C>G (p.Pro228Ala) | |
1 | g.21570350C>T | CA338879963 | ALPL | c.838C>T (p.Pro280Ser) c.48C>T c.607C>T (p.Pro203Ser) c.673C>T (p.Pro225Ser) c.682C>T (p.Pro228Ser) | |
1 | g.21570351C>A | CA338879964 | ALPL | c.839C>A (p.Pro280His) c.49C>A c.608C>A (p.Pro203His) c.674C>A (p.Pro225His) c.683C>A (p.Pro228His) | |
1 | g.21570351C>G | CA338879965 | ALPL | c.839C>G (p.Pro280Arg) c.49C>G c.608C>G (p.Pro203Arg) c.674C>G (p.Pro225Arg) c.683C>G (p.Pro228Arg) | gnomAD v4 |
1 | g.21570351C>T | CA338879966 | ALPL | c.839C>T (p.Pro280Leu) c.49C>T c.608C>T (p.Pro203Leu) c.674C>T (p.Pro225Leu) c.683C>T (p.Pro228Leu) | |
1 | g.21570352C>A | CA416530978 | ALPL | c.840C>A (p.Pro280=) c.50C>A c.609C>A (p.Pro203=) c.675C>A (p.Pro225=) c.684C>A (p.Pro228=) | |
1 | g.21570352C>G | CA416530974 | ALPL | c.840C>G (p.Pro280=) c.50C>G c.609C>G (p.Pro203=) c.675C>G (p.Pro225=) c.684C>G (p.Pro228=) | |
1 | g.21570352C>T | CA416530976 | ALPL | c.840C>T (p.Pro280=) c.50C>T c.609C>T (p.Pro203=) c.675C>T (p.Pro225=) c.684C>T (p.Pro228=) | |
1 | g.21570353C>A | CA338879967 | ALPL | c.841C>A (p.His281Asn) c.51C>A c.610C>A (p.His204Asn) c.676C>A (p.His226Asn) c.685C>A (p.His229Asn) | |
1 | g.21570353C= | CA1158016972 | ALPL | c.841C= (p.His281=) c.51C= c.610C= (p.His204=) c.676C= (p.His226=) c.685C= (p.His229=) | |
1 | g.21570353C>G | CA338879968 | ALPL | c.841C>G (p.His281Asp) c.51C>G c.610C>G (p.His204Asp) c.676C>G (p.His226Asp) c.685C>G (p.His229Asp) | dbSNP gnomAD v4 |
1 | g.21570353C>T | CA338879969 | ALPL | c.841C>T (p.His281Tyr) c.51C>T c.610C>T (p.His204Tyr) c.676C>T (p.His226Tyr) c.685C>T (p.His229Tyr) | |
1 | g.21570354A>C | CA338879970 | ALPL | c.842A>C (p.His281Pro) c.52A>C c.611A>C (p.His204Pro) c.677A>C (p.His226Pro) c.686A>C (p.His229Pro) | |
1 | g.21570354A>G | CA338879971 | ALPL | c.842A>G (p.His281Arg) c.52A>G c.611A>G (p.His204Arg) c.677A>G (p.His226Arg) c.686A>G (p.His229Arg) | gnomAD v4 |
1 | g.21570354A>T | CA338879972 | ALPL | c.842A>T (p.His281Leu) c.52A>T c.611A>T (p.His204Leu) c.677A>T (p.His226Leu) c.686A>T (p.His229Leu) | |
1 | g.21570355C>A | CA338879973 | ALPL | c.843C>A (p.His281Gln) c.53C>A c.612C>A (p.His204Gln) c.678C>A (p.His226Gln) c.687C>A (p.His229Gln) | |
1 | g.21570355C>G | CA338879974 | ALPL | c.843C>G (p.His281Gln) c.53C>G c.612C>G (p.His204Gln) c.678C>G (p.His226Gln) c.687C>G (p.His229Gln) | |
1 | g.21570355C>T | CA416530983 | ALPL | c.843C>T (p.His281=) c.53C>T c.612C>T (p.His204=) c.678C>T (p.His226=) c.687C>T (p.His229=) | |
1 | g.21570356A>C | CA338879975 | ALPL | c.844A>C (p.Asn282His) c.54A>C c.613A>C (p.Asn205His) c.679A>C (p.Asn227His) c.688A>C (p.Asn230His) | |
1 | g.21570356A>G | CA338879977 | ALPL | c.844A>G (p.Asn282Asp) c.54A>G c.613A>G (p.Asn205Asp) c.679A>G (p.Asn227Asp) c.688A>G (p.Asn230Asp) | |
1 | g.21570356A>T | CA338879976 | ALPL | c.844A>T (p.Asn282Tyr) c.54A>T c.613A>T (p.Asn205Tyr) c.679A>T (p.Asn227Tyr) c.688A>T (p.Asn230Tyr) | gnomAD v4 |
1 | g.21570357del | CA2574253169 | ALPL | c.845del (p.Asn282MetfsTer18) c.55del c.614del (p.Asn205MetfsTer18) c.680del (p.Asn227MetfsTer18) c.689del (p.Asn230MetfsTer18) | |
1 | g.21570357A>C | CA338879978 | ALPL | c.845A>C (p.Asn282Thr) c.55A>C c.614A>C (p.Asn205Thr) c.680A>C (p.Asn227Thr) c.689A>C (p.Asn230Thr) | |
1 | g.21570357A>G | CA338879979 | ALPL | c.845A>G (p.Asn282Ser) c.55A>G c.614A>G (p.Asn205Ser) c.680A>G (p.Asn227Ser) c.689A>G (p.Asn230Ser) | |
1 | g.21570357A>T | CA338879980 | ALPL | c.845A>T (p.Asn282Ile) c.55A>T c.614A>T (p.Asn205Ile) c.680A>T (p.Asn227Ile) c.689A>T (p.Asn230Ile) | gnomAD v4 |
1 | g.21570358del | CA2643930668 | ALPL | c.846del (p.Asn282LysfsTer18) c.56del c.615del (p.Asn205LysfsTer18) c.681del (p.Asn227LysfsTer18) c.690del (p.Asn230LysfsTer18) | gnomAD v4 |
1 | g.21570358T>A | CA338879981 | ALPL | c.846T>A (p.Asn282Lys) c.56T>A c.615T>A (p.Asn205Lys) c.681T>A (p.Asn227Lys) c.690T>A (p.Asn230Lys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21570358T>C | CA666632 | ALPL | c.846T>C (p.Asn282=) c.56T>C c.615T>C (p.Asn205=) c.681T>C (p.Asn227=) c.690T>C (p.Asn230=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21570358T>G | CA338879982 | ALPL | c.846T>G (p.Asn282Lys) c.56T>G c.615T>G (p.Asn205Lys) c.681T>G (p.Asn227Lys) c.690T>G (p.Asn230Lys) | |
1 | g.21570358T= | CA1158016973 | ALPL | c.846T= (p.Asn282=) c.56T= c.615T= (p.Asn205=) c.681T= (p.Asn227=) c.690T= (p.Asn230=) | |
1 | g.21570359G>A | CA338879983 | ALPL | c.847G>A (p.Val283Met) c.57G>A c.616G>A (p.Val206Met) c.682G>A (p.Val228Met) c.691G>A (p.Val231Met) | gnomAD v4 |
1 | g.21570359G>C | CA338879984 | ALPL | c.847G>C (p.Val283Leu) c.57G>C c.616G>C (p.Val206Leu) c.682G>C (p.Val228Leu) c.691G>C (p.Val231Leu) | |
1 | g.21570359G>T | CA338879985 | ALPL | c.847G>T (p.Val283Leu) c.57G>T c.616G>T (p.Val206Leu) c.682G>T (p.Val228Leu) c.691G>T (p.Val231Leu) | gnomAD v4 |
1 | g.21570360T>A | CA338879986 | ALPL | c.848T>A (p.Val283Glu) c.58T>A c.617T>A (p.Val206Glu) c.683T>A (p.Val228Glu) c.692T>A (p.Val231Glu) | |
1 | g.21570360T>C | CA338879987 | ALPL | c.848T>C (p.Val283Ala) c.58T>C c.617T>C (p.Val206Ala) c.683T>C (p.Val228Ala) c.692T>C (p.Val231Ala) | |
1 | g.21570360T>G | CA338879988 | ALPL | c.848T>G (p.Val283Gly) c.58T>G c.617T>G (p.Val206Gly) c.683T>G (p.Val228Gly) c.692T>G (p.Val231Gly) | |
1 | g.21570361G>A | CA416531003 | ALPL | c.849G>A (p.Val283=) c.59G>A c.618G>A (p.Val206=) c.684G>A (p.Val228=) c.693G>A (p.Val231=) | |
1 | g.21570361G>C | CA416531004 | ALPL | c.849G>C (p.Val283=) c.59G>C c.618G>C (p.Val206=) c.684G>C (p.Val228=) c.693G>C (p.Val231=) | |
1 | g.21570361G>T | CA416531001 | ALPL | c.849G>T (p.Val283=) c.59G>T c.618G>T (p.Val206=) c.684G>T (p.Val228=) c.693G>T (p.Val231=) | |
1 | g.21570362G>A | CA338879990 | ALPL | c.850G>A (p.Asp284Asn) c.60G>A c.619G>A (p.Asp207Asn) c.685G>A (p.Asp229Asn) c.694G>A (p.Asp232Asn) | ClinVar |
1 | g.21570362G>C | CA666633 | ALPL | c.850G>C (p.Asp284His) c.60G>C c.619G>C (p.Asp207His) c.685G>C (p.Asp229His) c.694G>C (p.Asp232His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21570362G= | CA1148406008 | ALPL | c.850G= (p.Asp284=) c.60G= c.619G= (p.Asp207=) c.685G= (p.Asp229=) c.694G= (p.Asp232=) | |
1 | g.21570362G>T | CA338879989 | ALPL | c.850G>T (p.Asp284Tyr) c.60G>T c.619G>T (p.Asp207Tyr) c.685G>T (p.Asp229Tyr) c.694G>T (p.Asp232Tyr) | |
1 | g.21570362_21570365dup | CA2586964049 | ALPL | c.850_853dup (p.Tyr285Ter) c.60_63dup c.619_622dup (p.Tyr208Ter) c.685_688dup (p.Tyr230Ter) c.694_697dup (p.Tyr233Ter) | |
1 | g.21570363A>C | CA338879991 | ALPL | c.851A>C (p.Asp284Ala) c.61A>C c.620A>C (p.Asp207Ala) c.686A>C (p.Asp229Ala) c.695A>C (p.Asp232Ala) | |
1 | g.21570363A>G | CA338879992 | ALPL | c.851A>G (p.Asp284Gly) c.61A>G c.620A>G (p.Asp207Gly) c.686A>G (p.Asp229Gly) c.695A>G (p.Asp232Gly) | |
1 | g.21570363A>T | CA338879993 | ALPL | c.851A>T (p.Asp284Val) c.61A>T c.620A>T (p.Asp207Val) c.686A>T (p.Asp229Val) c.695A>T (p.Asp232Val) | |
1 | g.21570364C>A | CA338879994 | ALPL | c.852C>A (p.Asp284Glu) c.62C>A c.621C>A (p.Asp207Glu) c.687C>A (p.Asp229Glu) c.696C>A (p.Asp232Glu) | |
1 | g.21570364C= | CA1158016974 | ALPL | c.852C= (p.Asp284=) c.62C= c.621C= (p.Asp207=) c.687C= (p.Asp229=) c.696C= (p.Asp232=) | |
1 | g.21570364C>G | CA338879995 | ALPL | c.852C>G (p.Asp284Glu) c.62C>G c.621C>G (p.Asp207Glu) c.687C>G (p.Asp229Glu) c.696C>G (p.Asp232Glu) | dbSNP |
1 | g.21570364C>T | CA416531011 | ALPL | c.852C>T (p.Asp284=) c.62C>T c.621C>T (p.Asp207=) c.687C>T (p.Asp229=) c.696C>T (p.Asp232=) | ClinVar dbSNP |
1 | g.21570365T>A | CA338879996 | ALPL | c.853T>A (p.Tyr285Asn) c.63T>A c.622T>A (p.Tyr208Asn) c.688T>A (p.Tyr230Asn) c.697T>A (p.Tyr233Asn) | |
1 | g.21570365T>C | CA338879997 | ALPL | c.853T>C (p.Tyr285His) c.63T>C c.622T>C (p.Tyr208His) c.688T>C (p.Tyr230His) c.697T>C (p.Tyr233His) | |
1 | g.21570365T>G | CA338879998 | ALPL | c.853T>G (p.Tyr285Asp) c.63T>G c.622T>G (p.Tyr208Asp) c.688T>G (p.Tyr230Asp) c.697T>G (p.Tyr233Asp) | |
1 | g.21570366A>C | CA338879999 | ALPL | c.854A>C (p.Tyr285Ser) c.64A>C c.623A>C (p.Tyr208Ser) c.689A>C (p.Tyr230Ser) c.698A>C (p.Tyr233Ser) | |
1 | g.21570366A>G | CA338880000 | ALPL | c.854A>G (p.Tyr285Cys) c.64A>G c.623A>G (p.Tyr208Cys) c.689A>G (p.Tyr230Cys) c.698A>G (p.Tyr233Cys) | |
1 | g.21570366A>T | CA338880001 | ALPL | c.854A>T (p.Tyr285Phe) c.64A>T c.623A>T (p.Tyr208Phe) c.689A>T (p.Tyr230Phe) c.698A>T (p.Tyr233Phe) | |
1 | g.21570367C>A | CA338880002 | ALPL | c.855C>A (p.Tyr285Ter) c.65C>A c.624C>A (p.Tyr208Ter) c.690C>A (p.Tyr230Ter) c.699C>A (p.Tyr233Ter) | |
1 | g.21570367C>G | CA338880003 | ALPL | c.855C>G (p.Tyr285Ter) c.65C>G c.624C>G (p.Tyr208Ter) c.690C>G (p.Tyr230Ter) c.699C>G (p.Tyr233Ter) | ClinVar |
1 | g.21570367C>T | CA416531017 | ALPL | c.855C>T (p.Tyr285=) c.65C>T c.624C>T (p.Tyr208=) c.690C>T (p.Tyr230=) c.699C>T (p.Tyr233=) | |
1 | g.21570368C>A | CA338880004 | ALPL | c.856C>A (p.Leu286Ile) c.66C>A c.625C>A (p.Leu209Ile) c.691C>A (p.Leu231Ile) c.700C>A (p.Leu234Ile) | |
1 | g.21570368C>G | CA338880005 | ALPL | c.856C>G (p.Leu286Val) c.66C>G c.625C>G (p.Leu209Val) c.691C>G (p.Leu231Val) c.700C>G (p.Leu234Val) | |
1 | g.21570368C>T | CA416531020 | ALPL | c.856C>T (p.Leu286=) c.66C>T c.625C>T (p.Leu209=) c.691C>T (p.Leu231=) c.700C>T (p.Leu234=) | |
1 | g.21570369T>A | CA338880006 | ALPL | c.857T>A (p.Leu286Gln) c.67T>A c.626T>A (p.Leu209Gln) c.692T>A (p.Leu231Gln) c.701T>A (p.Leu234Gln) | |
1 | g.21570369T>C | CA338880007 | ALPL | c.857T>C (p.Leu286Pro) c.67T>C c.626T>C (p.Leu209Pro) c.692T>C (p.Leu231Pro) c.701T>C (p.Leu234Pro) | |
1 | g.21570369T>G | CA338880008 | ALPL | c.857T>G (p.Leu286Arg) c.67T>G c.626T>G (p.Leu209Arg) c.692T>G (p.Leu231Arg) c.701T>G (p.Leu234Arg) | |
1 | g.21570370A= | CA1144032801 | ALPL | c.858A= (p.Leu286=) c.68A= c.627A= (p.Leu209=) c.693A= (p.Leu231=) c.702A= (p.Leu234=) | |
1 | g.21570370A>C | CA416531024 | ALPL | c.858A>C (p.Leu286=) c.68A>C c.627A>C (p.Leu209=) c.693A>C (p.Leu231=) c.702A>C (p.Leu234=) | gnomAD v4 |
1 | g.21570370A>G | CA666634 | ALPL | c.858A>G (p.Leu286=) c.68A>G c.627A>G (p.Leu209=) c.693A>G (p.Leu231=) c.702A>G (p.Leu234=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570370A>T | CA416531025 | ALPL | c.858A>T (p.Leu286=) c.68A>T c.627A>T (p.Leu209=) c.693A>T (p.Leu231=) c.702A>T (p.Leu234=) | |
1 | g.21570371T>A | CA338880010 | ALPL | c.859T>A (p.Leu287Met) c.69T>A c.628T>A (p.Leu210Met) c.694T>A (p.Leu232Met) c.703T>A (p.Leu235Met) | |
1 | g.21570371T>C | CA666635 | ALPL | c.859T>C (p.Leu287=) c.69T>C c.628T>C (p.Leu210=) c.694T>C (p.Leu232=) c.703T>C (p.Leu235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570371T>G | CA338880009 | ALPL | c.859T>G (p.Leu287Val) c.69T>G c.628T>G (p.Leu210Val) c.694T>G (p.Leu232Val) c.703T>G (p.Leu235Val) | |
1 | g.21570371T= | CA1141823792 | ALPL | c.859T= (p.Leu287=) c.69T= c.628T= (p.Leu210=) c.694T= (p.Leu232=) c.703T= (p.Leu235=) | |
1 | g.21570372T>A | CA338880011 | ALPL | c.860T>A (p.Leu287Ter) c.70T>A c.629T>A (p.Leu210Ter) c.695T>A (p.Leu232Ter) c.704T>A (p.Leu235Ter) | |
1 | g.21570372T>C | CA338880012 | ALPL | c.860T>C (p.Leu287Ser) c.70T>C c.629T>C (p.Leu210Ser) c.695T>C (p.Leu232Ser) c.704T>C (p.Leu235Ser) | |
1 | g.21570372T>G | CA338880013 | ALPL | c.860T>G (p.Leu287Trp) c.70T>G c.629T>G (p.Leu210Trp) c.695T>G (p.Leu232Trp) c.704T>G (p.Leu235Trp) | |
1 | g.21570373G>A | CA416531032 | ALPL | c.861G>A (p.Leu287=) c.71G>A c.630G>A (p.Leu210=) c.696G>A (p.Leu232=) c.705G>A (p.Leu235=) | gnomAD v4 |
1 | g.21570373G>C | CA338880014 | ALPL | c.861G>C (p.Leu287Phe) c.71G>C c.630G>C (p.Leu210Phe) c.696G>C (p.Leu232Phe) c.705G>C (p.Leu235Phe) | gnomAD v4 |
1 | g.21570373G>T | CA338880016 | ALPL | c.861G>T (p.Leu287Phe) c.71G>T c.630G>T (p.Leu210Phe) c.696G>T (p.Leu232Phe) c.705G>T (p.Leu235Phe) | |
1 | g.21570374G>A | CA338880018 | ALPL | c.862G>A (p.Gly288Ser) c.72G>A c.631G>A (p.Gly211Ser) c.697G>A (p.Gly233Ser) c.706G>A (p.Gly236Ser) | |
1 | g.21570374G>C | CA338880021 | ALPL | c.862G>C (p.Gly288Arg) c.72G>C c.631G>C (p.Gly211Arg) c.697G>C (p.Gly233Arg) c.706G>C (p.Gly236Arg) | gnomAD v4 |
1 | g.21570374G>T | CA338880020 | ALPL | c.862G>T (p.Gly288Cys) c.72G>T c.631G>T (p.Gly211Cys) c.697G>T (p.Gly233Cys) c.706G>T (p.Gly236Cys) | |
1 | g.21570375G>A | CA338880022 | ALPL | c.862+1G>A (n.862+1G>A) c.72+1G>A c.631+1G>A (n.631+1G>A) c.697+1G>A (n.697+1G>A) c.706+1G>A (n.706+1G>A) | ClinVar dbSNP |
1 | g.21570375G>C | CA338880024 | ALPL | c.862+1G>C (n.862+1G>C) c.72+1G>C c.631+1G>C (n.631+1G>C) c.697+1G>C (n.697+1G>C) c.706+1G>C (n.706+1G>C) | |
1 | g.21570375G= | CA1158016977 | ALPL | c.862+1G= (n.862+1G=) c.72+1G= c.631+1G= (n.631+1G=) c.697+1G= (n.697+1G=) c.706+1G= (n.706+1G=) | |
1 | g.21570375G>T | CA338880026 | ALPL | c.862+1G>T (n.862+1G>T) c.72+1G>T c.631+1G>T (n.631+1G>T) c.697+1G>T (n.697+1G>T) c.706+1G>T (n.706+1G>T) | |
1 | g.21570376T>A | CA338880028 | ALPL | c.862+2T>A (n.862+2T>A) c.72+2T>A c.631+2T>A (n.631+2T>A) c.697+2T>A (n.697+2T>A) c.706+2T>A (n.706+2T>A) | |
1 | g.21570376T>C | CA338880029 | ALPL | c.862+2T>C (n.862+2T>C) c.72+2T>C c.631+2T>C (n.631+2T>C) c.697+2T>C (n.697+2T>C) c.706+2T>C (n.706+2T>C) | gnomAD v4 |
1 | g.21570376T>G | CA338880030 | ALPL | c.862+2T>G (n.862+2T>G) c.72+2T>G c.631+2T>G (n.631+2T>G) c.697+2T>G (n.697+2T>G) c.706+2T>G (n.706+2T>G) | ClinVar dbSNP |
1 | g.21570376T= | CA1158016978 | ALPL | c.862+2T= (n.862+2T=) c.72+2T= c.631+2T= (n.631+2T=) c.697+2T= (n.697+2T=) c.706+2T= (n.706+2T=) | |
1 | g.21570378A>G | CA2573130507 | ALPL | c.862+4A>G (n.862+4A>G) c.72+4A>G c.631+4A>G (n.631+4A>G) c.697+4A>G (n.697+4A>G) c.706+4A>G (n.706+4A>G) | ClinVar dbSNP gnomAD v4 |
1 | g.21570379G>A | CA2586964050 | ALPL | c.862+5G>A (n.862+5G>A) c.72+5G>A c.631+5G>A (n.631+5G>A) c.697+5G>A (n.697+5G>A) c.706+5G>A (n.706+5G>A) | gnomAD v4 |
1 | g.21570388_21570396dup | CA2697552246 | ALPL | c.862+14_862+22dup (n.862+14_862+22dup) c.72+14_72+22dup c.631+14_631+22dup (n.631+14_631+22dup) c.697+14_697+22dup (n.697+14_697+22dup) c.706+14_706+22dup (n.706+14_706+22dup) | ClinVar |
1 | g.21570388_21570396del | CA2574252797 | ALPL | c.862+14_862+22del (n.862+14_862+22del) c.72+14_72+22del c.631+14_631+22del (n.631+14_631+22del) c.697+14_697+22del (n.697+14_697+22del) c.706+14_706+22del (n.706+14_706+22del) | gnomAD v4 |
1 | g.21570380T>C | CA19065155 | ALPL | c.862+6T>C (n.862+6T>C) c.72+6T>C c.631+6T>C (n.631+6T>C) c.697+6T>C (n.697+6T>C) c.706+6T>C (n.706+6T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21570380T= | CA1158016979 | ALPL | c.862+6T= (n.862+6T=) c.72+6T= c.631+6T= (n.631+6T=) c.697+6T= (n.697+6T=) c.706+6T= (n.706+6T=) | |
1 | g.21570382G>A | CA666636 | ALPL | c.862+8G>A (n.862+8G>A) c.72+8G>A c.631+8G>A (n.631+8G>A) c.697+8G>A (n.697+8G>A) c.706+8G>A (n.706+8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21570382G>C | CA2573130508 | ALPL | c.862+8G>C (n.862+8G>C) c.72+8G>C c.631+8G>C (n.631+8G>C) c.697+8G>C (n.697+8G>C) c.706+8G>C (n.706+8G>C) | ClinVar dbSNP |
1 | g.21570382G= | CA1148718497 | ALPL | c.862+8G= (n.862+8G=) c.72+8G= c.631+8G= (n.631+8G=) c.697+8G= (n.697+8G=) c.706+8G= (n.706+8G=) | |
1 | g.21570383_21570384delinsAG | CA1158016980 | ALPL | c.862+9_862+10delinsAG (n.862+9_862+10delinsAG) c.72+9_72+10delinsAG c.631+9_631+10delinsAG (n.631+9_631+10delinsAG) c.697+9_697+10delinsAG (n.697+9_697+10delinsAG) c.706+9_706+10delinsAG (n.706+9_706+10delinsAG) | |
1 | g.21570384G>C | CA666637 | ALPL | c.862+10G>C (n.862+10G>C) c.72+10G>C c.631+10G>C (n.631+10G>C) c.697+10G>C (n.697+10G>C) c.706+10G>C (n.706+10G>C) | ClinVar dbSNP ExAC gnomAD v4 |
1 | g.21570384G= | CA1158016981 | ALPL | c.862+10G= (n.862+10G=) c.72+10G= c.631+10G= (n.631+10G=) c.697+10G= (n.697+10G=) c.706+10G= (n.706+10G=) | |
1 | g.21570388del | CA999407852 | ALPL | c.862+14del (n.862+14del) c.72+14del c.631+14del (n.631+14del) c.697+14del (n.697+14del) c.706+14del (n.706+14del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21570385G>A | CA731320363 | ALPL | c.862+11G>A (n.862+11G>A) c.72+11G>A c.631+11G>A (n.631+11G>A) c.697+11G>A (n.697+11G>A) c.706+11G>A (n.706+11G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.21570385G= | CA1158016982 | ALPL | c.862+11G= (n.862+11G=) c.72+11G= c.631+11G= (n.631+11G=) c.697+11G= (n.697+11G=) c.706+11G= (n.706+11G=) | |
1 | g.21570385G>T | CA521577608 | ALPL | c.862+11G>T (n.862+11G>T) c.72+11G>T c.631+11G>T (n.631+11G>T) c.697+11G>T (n.697+11G>T) c.706+11G>T (n.706+11G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570386G>A | CA1158016984 | ALPL | c.862+12G>A (n.862+12G>A) c.72+12G>A c.631+12G>A (n.631+12G>A) c.697+12G>A (n.697+12G>A) c.706+12G>A (n.706+12G>A) | ClinVar dbSNP |
1 | g.21570386G= | CA1158016983 | ALPL | c.862+12G= (n.862+12G=) c.72+12G= c.631+12G= (n.631+12G=) c.697+12G= (n.697+12G=) c.706+12G= (n.706+12G=) | |
1 | g.21570386G>T | CA2643930701 | ALPL | c.862+12G>T (n.862+12G>T) c.72+12G>T c.631+12G>T (n.631+12G>T) c.697+12G>T (n.697+12G>T) c.706+12G>T (n.706+12G>T) | gnomAD v4 |
1 | g.21570387G>C | CA1158016976 | ALPL | c.862+13G>C (n.862+13G>C) c.72+13G>C c.631+13G>C (n.631+13G>C) c.697+13G>C (n.697+13G>C) c.706+13G>C (n.706+13G>C) | dbSNP |
1 | g.21570387G= | CA1158016975 | ALPL | c.862+13G= (n.862+13G=) c.72+13G= c.631+13G= (n.631+13G=) c.697+13G= (n.697+13G=) c.706+13G= (n.706+13G=) | |
1 | g.21570387G>T | CA521577610 | ALPL | c.862+13G>T (n.862+13G>T) c.72+13G>T c.631+13G>T (n.631+13G>T) c.697+13G>T (n.697+13G>T) c.706+13G>T (n.706+13G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570388G= | CA1158016985 | ALPL | c.862+14G= (n.862+14G=) c.72+14G= c.631+14G= (n.631+14G=) c.697+14G= (n.697+14G=) c.706+14G= (n.706+14G=) | |
1 | g.21570388G>T | CA999407858 | ALPL | c.862+14G>T (n.862+14G>T) c.72+14G>T c.631+14G>T (n.631+14G>T) c.697+14G>T (n.697+14G>T) c.706+14G>T (n.706+14G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.21570389T>G | CA2695501126 | ALPL | c.862+15T>G (n.862+15T>G) c.72+15T>G c.631+15T>G (n.631+15T>G) c.697+15T>G (n.697+15T>G) c.706+15T>G (n.706+15T>G) | dbSNP |
1 | g.21570390G>A | CA2643930705 | ALPL | c.862+16G>A (n.862+16G>A) c.72+16G>A c.631+16G>A (n.631+16G>A) c.697+16G>A (n.697+16G>A) c.706+16G>A (n.706+16G>A) | gnomAD v4 |
1 | g.21570393G>A | CA666638 | ALPL | c.862+19G>A (n.862+19G>A) c.72+19G>A c.631+19G>A (n.631+19G>A) c.697+19G>A (n.697+19G>A) c.706+19G>A (n.706+19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570393G>C | CA731320373 | ALPL | c.862+19G>C (n.862+19G>C) c.72+19G>C c.631+19G>C (n.631+19G>C) c.697+19G>C (n.697+19G>C) c.706+19G>C (n.706+19G>C) | dbSNP |
1 | g.21570393G= | CA1158016986 | ALPL | c.862+19G= (n.862+19G=) c.72+19G= c.631+19G= (n.631+19G=) c.697+19G= (n.697+19G=) c.706+19G= (n.706+19G=) | |
1 | g.21570393G>T | CA2839739699 | ALPL | c.862+19G>T (n.862+19G>T) c.72+19G>T c.631+19G>T (n.631+19G>T) c.697+19G>T (n.697+19G>T) c.706+19G>T (n.706+19G>T) | |
1 | g.21570394G>A | CA2581649594 | ALPL | c.862+20G>A (n.862+20G>A) c.72+20G>A c.631+20G>A (n.631+20G>A) c.697+20G>A (n.697+20G>A) c.706+20G>A (n.706+20G>A) | |
1 | g.21570394G>C | CA521577612 | ALPL | c.862+20G>C (n.862+20G>C) c.72+20G>C c.631+20G>C (n.631+20G>C) c.697+20G>C (n.697+20G>C) c.706+20G>C (n.706+20G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21570394G= | CA1139925427 | ALPL | c.862+20G= (n.862+20G=) c.72+20G= c.631+20G= (n.631+20G=) c.697+20G= (n.697+20G=) c.706+20G= (n.706+20G=) | |
1 | g.21570394G>T | CA666639 | ALPL | c.862+20G>T (n.862+20G>T) c.72+20G>T c.631+20G>T (n.631+20G>T) c.697+20G>T (n.697+20G>T) c.706+20G>T (n.706+20G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570395G>A | CA666640 | ALPL | c.862+21G>A (n.862+21G>A) c.72+21G>A c.631+21G>A (n.631+21G>A) c.697+21G>A (n.697+21G>A) c.706+21G>A (n.706+21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570395G= | CA1158016987 | ALPL | c.862+21G= (n.862+21G=) c.72+21G= c.631+21G= (n.631+21G=) c.697+21G= (n.697+21G=) c.706+21G= (n.706+21G=) | |
1 | g.21570395G>T | CA2742753877 | ALPL | c.862+21G>T (n.862+21G>T) c.72+21G>T c.631+21G>T (n.631+21G>T) c.697+21G>T (n.697+21G>T) c.706+21G>T (n.706+21G>T) | |
1 | g.21570396G>A | CA2574252803 | ALPL | c.862+22G>A (n.862+22G>A) c.72+22G>A c.631+22G>A (n.631+22G>A) c.697+22G>A (n.697+22G>A) c.706+22G>A (n.706+22G>A) | |
1 | g.21570396G>T | CA2841021447 | ALPL | c.862+22G>T (n.862+22G>T) c.72+22G>T c.631+22G>T (n.631+22G>T) c.697+22G>T (n.697+22G>T) c.706+22G>T (n.706+22G>T) | |
1 | g.21570398G>A | CA521577615 | ALPL | c.862+24G>A (n.862+24G>A) c.72+24G>A c.631+24G>A (n.631+24G>A) c.697+24G>A (n.697+24G>A) c.706+24G>A (n.706+24G>A) | dbSNP gnomAD v2 |
1 | g.21570398G= | CA1158016988 | ALPL | c.862+24G= (n.862+24G=) c.72+24G= c.631+24G= (n.631+24G=) c.697+24G= (n.697+24G=) c.706+24G= (n.706+24G=) | |
1 | g.21570400_21570407dup | CA2643930725 | ALPL | c.862+26_862+33dup (n.862+26_862+33dup) c.72+26_72+33dup c.631+26_631+33dup (n.631+26_631+33dup) c.697+26_697+33dup (n.697+26_697+33dup) c.706+26_706+33dup (n.706+26_706+33dup) | gnomAD v4 |
1 | g.21570399G>T | CA645684355 | ALPL | c.862+25G>T (n.862+25G>T) c.72+25G>T c.631+25G>T (n.631+25G>T) c.697+25G>T (n.697+25G>T) c.706+25G>T (n.706+25G>T) | gnomAD v4 COSMIC |
1 | g.21570399_21570400delinsGA | CA1158016989 | ALPL | c.862+25_862+26delinsGA (n.862+25_862+26delinsGA) c.72+25_72+26delinsGA c.631+25_631+26delinsGA (n.631+25_631+26delinsGA) c.697+25_697+26delinsGA (n.697+25_697+26delinsGA) c.706+25_706+26delinsGA (n.706+25_706+26delinsGA) | |
1 | g.21570400del | CA666641 | ALPL | c.862+26del (n.862+26del) c.72+26del c.631+26del (n.631+26del) c.697+26del (n.697+26del) c.706+26del (n.706+26del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21570400A= | CA1143520634 | ALPL | c.862+26A= (n.862+26A=) c.72+26A= c.631+26A= (n.631+26A=) c.697+26A= (n.697+26A=) c.706+26A= (n.706+26A=) | |
1 | g.21570400A>T | CA666642 | ALPL | c.862+26A>T (n.862+26A>T) c.72+26A>T c.631+26A>T (n.631+26A>T) c.697+26A>T (n.697+26A>T) c.706+26A>T (n.706+26A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570402G>A | CA666643 | ALPL | c.862+28G>A (n.862+28G>A) c.72+28G>A c.631+28G>A (n.631+28G>A) c.697+28G>A (n.697+28G>A) c.706+28G>A (n.706+28G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570402G= | CA1140698794 | ALPL | c.862+28G= (n.862+28G=) c.72+28G= c.631+28G= (n.631+28G=) c.697+28G= (n.697+28G=) c.706+28G= (n.706+28G=) | |
1 | g.21570403C>A | CA2643930740 | ALPL | c.862+29C>A (n.862+29C>A) c.72+29C>A c.631+29C>A (n.631+29C>A) c.697+29C>A (n.697+29C>A) c.706+29C>A (n.706+29C>A) | gnomAD v4 |
1 | g.21570403C= | CA1158016990 | ALPL | c.862+29C= (n.862+29C=) c.72+29C= c.631+29C= (n.631+29C=) c.697+29C= (n.697+29C=) c.706+29C= (n.706+29C=) | |
1 | g.21570403C>T | CA1158016991 | ALPL | c.862+29C>T (n.862+29C>T) c.72+29C>T c.631+29C>T (n.631+29C>T) c.697+29C>T (n.697+29C>T) c.706+29C>T (n.706+29C>T) | dbSNP gnomAD v4 |
1 | g.21570404A= | CA1158016992 | ALPL | c.862+30A= (n.862+30A=) c.72+30A= c.631+30A= (n.631+30A=) c.697+30A= (n.697+30A=) c.706+30A= (n.706+30A=) | |
1 | g.21570404A>G | CA2643930742 | ALPL | c.862+30A>G (n.862+30A>G) c.72+30A>G c.631+30A>G (n.631+30A>G) c.697+30A>G (n.697+30A>G) c.706+30A>G (n.706+30A>G) | gnomAD v4 |
1 | g.21570404A>T | CA521577617 | ALPL | c.862+30A>T (n.862+30A>T) c.72+30A>T c.631+30A>T (n.631+30A>T) c.697+30A>T (n.697+30A>T) c.706+30A>T (n.706+30A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21570405T>C | CA666644 | ALPL | c.862+31T>C (n.862+31T>C) c.72+31T>C c.631+31T>C (n.631+31T>C) c.697+31T>C (n.697+31T>C) c.706+31T>C (n.706+31T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21570405T= | CA1158016993 | ALPL | c.862+31T= (n.862+31T=) c.72+31T= c.631+31T= (n.631+31T=) c.697+31T= (n.697+31T=) c.706+31T= (n.706+31T=) | |
1 | g.21570406G>T | CA2841021449 | ALPL | c.862+32G>T (n.862+32G>T) c.72+32G>T c.631+32G>T (n.631+32G>T) c.697+32G>T (n.697+32G>T) c.706+32G>T (n.706+32G>T) | |
1 | g.21570407dup | CA2841021448 | ALPL | c.862+33dup (n.862+33dup) c.72+33dup c.631+33dup (n.631+33dup) c.697+33dup (n.697+33dup) c.706+33dup (n.706+33dup) | |
1 | g.21570407del | CA2839113642 | ALPL | c.862+33del (n.862+33del) c.72+33del c.631+33del (n.631+33del) c.697+33del (n.697+33del) c.706+33del (n.706+33del) | |
1 | g.21570407G>A | CA666645 | ALPL | c.862+33G>A (n.862+33G>A) c.72+33G>A c.631+33G>A (n.631+33G>A) c.697+33G>A (n.697+33G>A) c.706+33G>A (n.706+33G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21570407G= | CA1158016994 | ALPL | c.862+33G= (n.862+33G=) c.72+33G= c.631+33G= (n.631+33G=) c.697+33G= (n.697+33G=) c.706+33G= (n.706+33G=) | |
1 | g.21570407G>T | CA2643930746 | ALPL | c.862+33G>T (n.862+33G>T) c.72+33G>T c.631+33G>T (n.631+33G>T) c.697+33G>T (n.697+33G>T) c.706+33G>T (n.706+33G>T) | gnomAD v4 |
1 | g.21570410C= | CA1158016995 | ALPL | c.862+36C= (n.862+36C=) c.72+36C= c.631+36C= (n.631+36C=) c.697+36C= (n.697+36C=) c.706+36C= (n.706+36C=) | |
1 | g.21570410C>T | CA666646 | ALPL | c.862+36C>T (n.862+36C>T) c.72+36C>T c.631+36C>T (n.631+36C>T) c.697+36C>T (n.697+36C>T) c.706+36C>T (n.706+36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570410dup | CA2643930749 | ALPL | c.862+36dup (n.862+36dup) c.72+36dup c.631+36dup (n.631+36dup) c.697+36dup (n.697+36dup) c.706+36dup (n.706+36dup) | gnomAD v4 |
1 | g.21570411G>A | CA666647 | ALPL | c.862+37G>A (n.862+37G>A) c.72+37G>A c.631+37G>A (n.631+37G>A) c.697+37G>A (n.697+37G>A) c.706+37G>A (n.706+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570411G= | CA1158016996 | ALPL | c.862+37G= (n.862+37G=) c.72+37G= c.631+37G= (n.631+37G=) c.697+37G= (n.697+37G=) c.706+37G= (n.706+37G=) | |
1 | g.21570412_21570413insCCACCAGGCTCCG | CA2643930751 | ALPL | c.862+38_862+39insCCACCAGGCTCCG (n.862+38_862+39insCCACCAGGCTCCG) c.72+38_72+39insCCACCAGGCTCCG c.631+38_631+39insCCACCAGGCTCCG (n.631+38_631+39insCCACCAGGCTCCG) c.697+38_697+39insCCACCAGGCTCCG (n.697+38_697+39insCCACCAGGCTCCG) c.706+38_706+39insCCACCAGGCTCCG (n.706+38_706+39insCCACCAGGCTCCG) | gnomAD v4 |
1 | g.21570413A= | CA1158016997 | ALPL | c.862+39A= (n.862+39A=) c.72+39A= c.631+39A= (n.631+39A=) c.697+39A= (n.697+39A=) c.706+39A= (n.706+39A=) | |
1 | g.21570413A>G | CA521577623 | ALPL | c.862+39A>G (n.862+39A>G) c.72+39A>G c.631+39A>G (n.631+39A>G) c.697+39A>G (n.697+39A>G) c.706+39A>G (n.706+39A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21570414G>T | CA2643930752 | ALPL | c.862+40G>T (n.862+40G>T) c.72+40G>T c.631+40G>T (n.631+40G>T) c.697+40G>T (n.697+40G>T) c.706+40G>T (n.706+40G>T) | gnomAD v4 |
1 | g.21570415C= | CA1158016998 | ALPL | c.862+41C= (n.862+41C=) c.72+41C= c.631+41C= (n.631+41C=) c.697+41C= (n.697+41C=) c.706+41C= (n.706+41C=) | |
1 | g.21570415C>G | CA19065295 | ALPL | c.862+41C>G (n.862+41C>G) c.72+41C>G c.631+41C>G (n.631+41C>G) c.697+41C>G (n.697+41C>G) c.706+41C>G (n.706+41C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570415C>T | CA521577624 | ALPL | c.862+41C>T (n.862+41C>T) c.72+41C>T c.631+41C>T (n.631+41C>T) c.697+41C>T (n.697+41C>T) c.706+41C>T (n.706+41C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570416C>A | CA2574252817 | ALPL | c.862+42C>A (n.862+42C>A) c.72+42C>A c.631+42C>A (n.631+42C>A) c.697+42C>A (n.697+42C>A) c.706+42C>A (n.706+42C>A) | |
1 | g.21570417T>C | CA2574252818 | ALPL | c.862+43T>C (n.862+43T>C) c.72+43T>C c.631+43T>C (n.631+43T>C) c.697+43T>C (n.697+43T>C) c.706+43T>C (n.706+43T>C) | gnomAD v4 |
1 | g.21570418G>C | CA19065296 | ALPL | c.862+44G>C (n.862+44G>C) c.72+44G>C c.631+44G>C (n.631+44G>C) c.697+44G>C (n.697+44G>C) c.706+44G>C (n.706+44G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21570418G= | CA1158016999 | ALPL | c.862+44G= (n.862+44G=) c.72+44G= c.631+44G= (n.631+44G=) c.697+44G= (n.697+44G=) c.706+44G= (n.706+44G=) | |
1 | g.21570418G>T | CA2574252819 | ALPL | c.862+44G>T (n.862+44G>T) c.72+44G>T c.631+44G>T (n.631+44G>T) c.697+44G>T (n.697+44G>T) c.706+44G>T (n.706+44G>T) | |
1 | g.21570419G>C | CA2643930759 | ALPL | c.862+45G>C (n.862+45G>C) c.72+45G>C c.631+45G>C (n.631+45G>C) c.697+45G>C (n.697+45G>C) c.706+45G>C (n.706+45G>C) | gnomAD v4 |
1 | g.21570420T>C | CA666648 | ALPL | c.862+46T>C (n.862+46T>C) c.72+46T>C c.631+46T>C (n.631+46T>C) c.697+46T>C (n.697+46T>C) c.706+46T>C (n.706+46T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570420T>G | CA1158017001 | ALPL | c.862+46T>G (n.862+46T>G) c.72+46T>G c.631+46T>G (n.631+46T>G) c.697+46T>G (n.697+46T>G) c.706+46T>G (n.706+46T>G) | dbSNP |
1 | g.21570420T= | CA1158017000 | ALPL | c.862+46T= (n.862+46T=) c.72+46T= c.631+46T= (n.631+46T=) c.697+46T= (n.697+46T=) c.706+46T= (n.706+46T=) | |
1 | g.21570421G>C | CA2643930761 | ALPL | c.862+47G>C (n.862+47G>C) c.72+47G>C c.631+47G>C (n.631+47G>C) c.697+47G>C (n.697+47G>C) c.706+47G>C (n.706+47G>C) | gnomAD v4 |
1 | g.21570421G>T | CA2838196700 | ALPL | c.862+47G>T (n.862+47G>T) c.72+47G>T c.631+47G>T (n.631+47G>T) c.697+47G>T (n.697+47G>T) c.706+47G>T (n.706+47G>T) | |
1 | g.21570422G>A | CA521577627 | ALPL | c.862+48G>A (n.862+48G>A) c.72+48G>A c.631+48G>A (n.631+48G>A) c.697+48G>A (n.697+48G>A) c.706+48G>A (n.706+48G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21570422G= | CA1158017002 | ALPL | c.862+48G= (n.862+48G=) c.72+48G= c.631+48G= (n.631+48G=) c.697+48G= (n.697+48G=) c.706+48G= (n.706+48G=) | |
1 | g.21570423C>A | CA1158017004 | ALPL | c.862+49C>A (n.862+49C>A) c.72+49C>A c.631+49C>A (n.631+49C>A) c.697+49C>A (n.697+49C>A) c.706+49C>A (n.706+49C>A) | dbSNP gnomAD v4 |
1 | g.21570423C= | CA1158017003 | ALPL | c.862+49C= (n.862+49C=) c.72+49C= c.631+49C= (n.631+49C=) c.697+49C= (n.697+49C=) c.706+49C= (n.706+49C=) | |
1 | g.21570423C>T | CA2643930764 | ALPL | c.862+49C>T (n.862+49C>T) c.72+49C>T c.631+49C>T (n.631+49C>T) c.697+49C>T (n.697+49C>T) c.706+49C>T (n.706+49C>T) | gnomAD v4 |
1 | g.21570424C>A | CA2574252822 | ALPL | c.862+50C>A (n.862+50C>A) c.72+50C>A c.631+50C>A (n.631+50C>A) c.697+50C>A (n.697+50C>A) c.706+50C>A (n.706+50C>A) | gnomAD v4 |
1 | g.21570424C= | CA1143831212 | ALPL | c.862+50C= (n.862+50C=) c.72+50C= c.631+50C= (n.631+50C=) c.697+50C= (n.697+50C=) c.706+50C= (n.706+50C=) | |
1 | g.21570424C>T | CA666649 | ALPL | c.862+50C>T (n.862+50C>T) c.72+50C>T c.631+50C>T (n.631+50C>T) c.697+50C>T (n.697+50C>T) c.706+50C>T (n.706+50C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570424_21570425delinsCG | CA1158017005 | ALPL | c.862+50_862+51delinsCG (n.862+50_862+51delinsCG) c.72+50_72+51delinsCG c.631+50_631+51delinsCG (n.631+50_631+51delinsCG) c.697+50_697+51delinsCG (n.697+50_697+51delinsCG) c.706+50_706+51delinsCG (n.706+50_706+51delinsCG) | |
1 | g.21570425G>A | CA666650 | ALPL | c.862+51G>A (n.862+51G>A) c.72+51G>A c.631+51G>A (n.631+51G>A) c.697+51G>A (n.697+51G>A) c.706+51G>A (n.706+51G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570425G>C | CA2581649595 | ALPL | c.862+51G>C (n.862+51G>C) c.72+51G>C c.631+51G>C (n.631+51G>C) c.697+51G>C (n.697+51G>C) c.706+51G>C (n.706+51G>C) | |
1 | g.21570425G= | CA1139925428 | ALPL | c.862+51G= (n.862+51G=) c.72+51G= c.631+51G= (n.631+51G=) c.697+51G= (n.697+51G=) c.706+51G= (n.706+51G=) | |
1 | g.21570425G>T | CA2581649596 | ALPL | c.862+51G>T (n.862+51G>T) c.72+51G>T c.631+51G>T (n.631+51G>T) c.697+51G>T (n.697+51G>T) c.706+51G>T (n.706+51G>T) | gnomAD v4 |
1 | g.21570426dup | CA2838430746 | ALPL | c.862+52dup (n.862+52dup) c.72+52dup c.631+52dup (n.631+52dup) c.697+52dup (n.697+52dup) c.706+52dup (n.706+52dup) | |
1 | g.21570426del | CA521577628 | ALPL | c.862+52del (n.862+52del) c.72+52del c.631+52del (n.631+52del) c.697+52del (n.697+52del) c.706+52del (n.706+52del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21570425_21570428dup | CA2831125085 | ALPL | c.862+51_862+54dup (n.862+51_862+54dup) c.72+51_72+54dup c.631+51_631+54dup (n.631+51_631+54dup) c.697+51_697+54dup (n.697+51_697+54dup) c.706+51_706+54dup (n.706+51_706+54dup) | |
1 | g.21570426G>A | CA1158017007 | ALPL | c.862+52G>A (n.862+52G>A) c.72+52G>A c.631+52G>A (n.631+52G>A) c.697+52G>A (n.697+52G>A) c.706+52G>A (n.706+52G>A) | dbSNP |
1 | g.21570426G= | CA1158017006 | ALPL | c.862+52G= (n.862+52G=) c.72+52G= c.631+52G= (n.631+52G=) c.697+52G= (n.697+52G=) c.706+52G= (n.706+52G=) | |
1 | g.21570426G>T | CA2643930771 | ALPL | c.862+52G>T (n.862+52G>T) c.72+52G>T c.631+52G>T (n.631+52G>T) c.697+52G>T (n.697+52G>T) c.706+52G>T (n.706+52G>T) | gnomAD v4 |
1 | g.21570428G>T | CA2643930772 | ALPL | c.862+54G>T (n.862+54G>T) c.72+54G>T c.631+54G>T (n.631+54G>T) c.697+54G>T (n.697+54G>T) c.706+54G>T (n.706+54G>T) | gnomAD v4 |
1 | g.21570429C>A | CA521577629 | ALPL | c.862+55C>A (n.862+55C>A) c.72+55C>A c.631+55C>A (n.631+55C>A) c.697+55C>A (n.697+55C>A) c.706+55C>A (n.706+55C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570429C= | CA1158017008 | ALPL | c.862+55C= (n.862+55C=) c.72+55C= c.631+55C= (n.631+55C=) c.697+55C= (n.697+55C=) c.706+55C= (n.706+55C=) | |
1 | g.21570429C>G | CA731320465 | ALPL | c.862+55C>G (n.862+55C>G) c.72+55C>G c.631+55C>G (n.631+55C>G) c.697+55C>G (n.697+55C>G) c.706+55C>G (n.706+55C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21570431G>A | CA19065331 | ALPL | c.862+57G>A (n.862+57G>A) c.72+57G>A c.631+57G>A (n.631+57G>A) c.697+57G>A (n.697+57G>A) c.706+57G>A (n.706+57G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570431G= | CA1158017009 | ALPL | c.862+57G= (n.862+57G=) c.72+57G= c.631+57G= (n.631+57G=) c.697+57G= (n.697+57G=) c.706+57G= (n.706+57G=) | |
1 | g.21570431G>T | CA2841021450 | ALPL | c.862+57G>T (n.862+57G>T) c.72+57G>T c.631+57G>T (n.631+57G>T) c.697+57G>T (n.697+57G>T) c.706+57G>T (n.706+57G>T) | |
1 | g.21570432_21570433del | CA2574252830 | ALPL | c.862+58_862+59del (n.862+58_862+59del) c.72+58_72+59del c.631+58_631+59del (n.631+58_631+59del) c.697+58_697+59del (n.697+58_697+59del) c.706+58_706+59del (n.706+58_706+59del) | |
1 | g.21570432C>A | CA2581649597 | ALPL | c.862+58C>A (n.862+58C>A) c.72+58C>A c.631+58C>A (n.631+58C>A) c.697+58C>A (n.697+58C>A) c.706+58C>A (n.706+58C>A) | gnomAD v4 |
1 | g.21570432C= | CA1139925430 | ALPL | c.862+58C= (n.862+58C=) c.72+58C= c.631+58C= (n.631+58C=) c.697+58C= (n.697+58C=) c.706+58C= (n.706+58C=) | |
1 | g.21570432C>G | CA2581649598 | ALPL | c.862+58C>G (n.862+58C>G) c.72+58C>G c.631+58C>G (n.631+58C>G) c.697+58C>G (n.697+58C>G) c.706+58C>G (n.706+58C>G) | gnomAD v4 |
1 | g.21570432C>T | CA10765517 | ALPL | c.862+58C>T (n.862+58C>T) c.72+58C>T c.631+58C>T (n.631+58C>T) c.697+58C>T (n.697+58C>T) c.706+58C>T (n.706+58C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570433G>A | CA19065333 | ALPL | c.862+59G>A (n.862+59G>A) c.72+59G>A c.631+59G>A (n.631+59G>A) c.697+59G>A (n.697+59G>A) c.706+59G>A (n.706+59G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570433G>C | CA2643930776 | ALPL | c.862+59G>C (n.862+59G>C) c.72+59G>C c.631+59G>C (n.631+59G>C) c.697+59G>C (n.697+59G>C) c.706+59G>C (n.706+59G>C) | gnomAD v4 |
1 | g.21570433G= | CA1145907389 | ALPL | c.862+59G= (n.862+59G=) c.72+59G= c.631+59G= (n.631+59G=) c.697+59G= (n.697+59G=) c.706+59G= (n.706+59G=) | |
1 | g.21570433G>T | CA2557984035 | ALPL | c.862+59G>T (n.862+59G>T) c.72+59G>T c.631+59G>T (n.631+59G>T) c.697+59G>T (n.697+59G>T) c.706+59G>T (n.706+59G>T) | gnomAD v4 |
1 | g.21570435G>A | CA2574252839 | ALPL | c.862+61G>A (n.862+61G>A) c.72+61G>A c.631+61G>A (n.631+61G>A) c.697+61G>A (n.697+61G>A) c.706+61G>A (n.706+61G>A) | gnomAD v4 |
1 | g.21570437G>T | CA2643930777 | ALPL | c.862+63G>T (n.862+63G>T) c.72+63G>T c.631+63G>T (n.631+63G>T) c.697+63G>T (n.697+63G>T) c.706+63G>T (n.706+63G>T) | gnomAD v4 |
1 | g.21570438G>A | CA731320472 | ALPL | c.862+64G>A (n.862+64G>A) c.72+64G>A c.631+64G>A (n.631+64G>A) c.697+64G>A (n.697+64G>A) c.706+64G>A (n.706+64G>A) | dbSNP |
1 | g.21570438G= | CA1158017010 | ALPL | c.862+64G= (n.862+64G=) c.72+64G= c.631+64G= (n.631+64G=) c.697+64G= (n.697+64G=) c.706+64G= (n.706+64G=) | |
1 | g.21570438G>T | CA2643930778 | ALPL | c.862+64G>T (n.862+64G>T) c.72+64G>T c.631+64G>T (n.631+64G>T) c.697+64G>T (n.697+64G>T) c.706+64G>T (n.706+64G>T) | gnomAD v4 |
1 | g.21570439C>A | CA2574252841 | ALPL | c.862+65C>A (n.862+65C>A) c.72+65C>A c.631+65C>A (n.631+65C>A) c.697+65C>A (n.697+65C>A) c.706+65C>A (n.706+65C>A) | gnomAD v4 |
1 | g.21570439C>T | CA2643930779 | ALPL | c.862+65C>T (n.862+65C>T) c.72+65C>T c.631+65C>T (n.631+65C>T) c.697+65C>T (n.697+65C>T) c.706+65C>T (n.706+65C>T) | gnomAD v4 |
1 | g.21570440del | CA2574252840 | ALPL | c.862+66del (n.862+66del) c.72+66del c.631+66del (n.631+66del) c.697+66del (n.697+66del) c.706+66del (n.706+66del) | gnomAD v4 |
1 | g.21570440C>A | CA2643930780 | ALPL | c.862+66C>A (n.862+66C>A) c.72+66C>A c.631+66C>A (n.631+66C>A) c.697+66C>A (n.697+66C>A) c.706+66C>A (n.706+66C>A) | gnomAD v4 |
1 | g.21570440C= | CA1144033801 | ALPL | c.862+66C= (n.862+66C=) c.72+66C= c.631+66C= (n.631+66C=) c.697+66C= (n.697+66C=) c.706+66C= (n.706+66C=) | |
1 | g.21570440C>T | CA19065337 | ALPL | c.862+66C>T (n.862+66C>T) c.72+66C>T c.631+66C>T (n.631+66C>T) c.697+66C>T (n.697+66C>T) c.706+66C>T (n.706+66C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21570441A>G | CA2643930781 | ALPL | c.862+67A>G (n.862+67A>G) c.72+67A>G c.631+67A>G (n.631+67A>G) c.697+67A>G (n.697+67A>G) c.706+67A>G (n.706+67A>G) | gnomAD v4 |