Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.125468753G>A | CA441373020 | FAT4 | c.12147G>A (p.Lys4049=) c.6918G>A (p.Lys2306=) c.6930G>A (p.Lys2310=) c.12141G>A (p.Lys4047=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.125468753G>C | CA358128821 | FAT4 | c.12147G>C (p.Lys4049Asn) c.6918G>C (p.Lys2306Asn) c.6930G>C (p.Lys2310Asn) c.12141G>C (p.Lys4047Asn) | gnomAD v4 |
4 | g.125468753G= | CA1491662385 | FAT4 | c.12147G= (p.Lys4049=) c.6918G= (p.Lys2306=) c.6930G= (p.Lys2310=) c.12141G= (p.Lys4047=) | |
4 | g.125468753G>T | CA358128824 | FAT4 | c.12147G>T (p.Lys4049Asn) c.6918G>T (p.Lys2306Asn) c.6930G>T (p.Lys2310Asn) c.12141G>T (p.Lys4047Asn) | dbSNP gnomAD v4 |
4 | g.125468754C>A | CA358128827 | FAT4 | c.12148C>A (p.Leu4050Ile) c.6919C>A (p.Leu2307Ile) c.6931C>A (p.Leu2311Ile) c.12142C>A (p.Leu4048Ile) | |
4 | g.125468754C>G | CA358128830 | FAT4 | c.12148C>G (p.Leu4050Val) c.6919C>G (p.Leu2307Val) c.6931C>G (p.Leu2311Val) c.12142C>G (p.Leu4048Val) | |
4 | g.125468754C>T | CA358128833 | FAT4 | c.12148C>T (p.Leu4050Phe) c.6919C>T (p.Leu2307Phe) c.6931C>T (p.Leu2311Phe) c.12142C>T (p.Leu4048Phe) | |
4 | g.125468755T>A | CA358128841 | FAT4 | c.12149T>A (p.Leu4050His) c.6920T>A (p.Leu2307His) c.6932T>A (p.Leu2311His) c.12143T>A (p.Leu4048His) | |
4 | g.125468755T>C | CA358128838 | FAT4 | c.12149T>C (p.Leu4050Pro) c.6920T>C (p.Leu2307Pro) c.6932T>C (p.Leu2311Pro) c.12143T>C (p.Leu4048Pro) | |
4 | g.125468755T>G | CA358128836 | FAT4 | c.12149T>G (p.Leu4050Arg) c.6920T>G (p.Leu2307Arg) c.6932T>G (p.Leu2311Arg) c.12143T>G (p.Leu4048Arg) | |
4 | g.125468756C>A | CA441373021 | FAT4 | c.12150C>A (p.Leu4050=) c.6921C>A (p.Leu2307=) c.6933C>A (p.Leu2311=) c.12144C>A (p.Leu4048=) | |
4 | g.125468756C= | CA1491662386 | FAT4 | c.12150C= (p.Leu4050=) c.6921C= (p.Leu2307=) c.6933C= (p.Leu2311=) c.12144C= (p.Leu4048=) | |
4 | g.125468756C>G | CA441373022 | FAT4 | c.12150C>G (p.Leu4050=) c.6921C>G (p.Leu2307=) c.6933C>G (p.Leu2311=) c.12144C>G (p.Leu4048=) | |
4 | g.125468756C>T | CA441373023 | FAT4 | c.12150C>T (p.Leu4050=) c.6921C>T (p.Leu2307=) c.6933C>T (p.Leu2311=) c.12144C>T (p.Leu4048=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.125468757A= | CA1491662387 | FAT4 | c.12151A= (p.Thr4051=) c.6922A= (p.Thr2308=) c.6934A= (p.Thr2312=) c.12145A= (p.Thr4049=) | |
4 | g.125468757A>C | CA358128844 | FAT4 | c.12151A>C (p.Thr4051Pro) c.6922A>C (p.Thr2308Pro) c.6934A>C (p.Thr2312Pro) c.12145A>C (p.Thr4049Pro) | |
4 | g.125468757A>G | CA358128846 | FAT4 | c.12151A>G (p.Thr4051Ala) c.6922A>G (p.Thr2308Ala) c.6934A>G (p.Thr2312Ala) c.12145A>G (p.Thr4049Ala) | dbSNP gnomAD v2 COSMIC COSMIC |
4 | g.125468757A>T | CA104860467 | FAT4 | c.12151A>T (p.Thr4051Ser) c.6922A>T (p.Thr2308Ser) c.6934A>T (p.Thr2312Ser) c.12145A>T (p.Thr4049Ser) | dbSNP |
4 | g.125468758C>A | CA358128859 | FAT4 | c.12152C>A (p.Thr4051Asn) c.6923C>A (p.Thr2308Asn) c.6935C>A (p.Thr2312Asn) c.12146C>A (p.Thr4049Asn) | |
4 | g.125468758C= | CA1491662388 | FAT4 | c.12152C= (p.Thr4051=) c.6923C= (p.Thr2308=) c.6935C= (p.Thr2312=) c.12146C= (p.Thr4049=) | |
4 | g.125468758C>G | CA358128861 | FAT4 | c.12152C>G (p.Thr4051Ser) c.6923C>G (p.Thr2308Ser) c.6935C>G (p.Thr2312Ser) c.12146C>G (p.Thr4049Ser) | |
4 | g.125468758C>T | CA104860481 | FAT4 | c.12152C>T (p.Thr4051Ile) c.6923C>T (p.Thr2308Ile) c.6935C>T (p.Thr2312Ile) c.12146C>T (p.Thr4049Ile) | dbSNP |
4 | g.125468759C>A | CA441373024 | FAT4 | c.12153C>A (p.Thr4051=) c.6924C>A (p.Thr2308=) c.6936C>A (p.Thr2312=) c.12147C>A (p.Thr4049=) | |
4 | g.125468759C>G | CA441373026 | FAT4 | c.12153C>G (p.Thr4051=) c.6924C>G (p.Thr2308=) c.6936C>G (p.Thr2312=) c.12147C>G (p.Thr4049=) | |
4 | g.125468759C>T | CA441373025 | FAT4 | c.12153C>T (p.Thr4051=) c.6924C>T (p.Thr2308=) c.6936C>T (p.Thr2312=) c.12147C>T (p.Thr4049=) | |
4 | g.125468760A>C | CA358128868 | FAT4 | c.12154A>C (p.Thr4052Pro) c.6925A>C (p.Thr2309Pro) c.6937A>C (p.Thr2313Pro) c.12148A>C (p.Thr4050Pro) | |
4 | g.125468760A>G | CA358128872 | FAT4 | c.12154A>G (p.Thr4052Ala) c.6925A>G (p.Thr2309Ala) c.6937A>G (p.Thr2313Ala) c.12148A>G (p.Thr4050Ala) | |
4 | g.125468760A>T | CA358128869 | FAT4 | c.12154A>T (p.Thr4052Ser) c.6925A>T (p.Thr2309Ser) c.6937A>T (p.Thr2313Ser) c.12148A>T (p.Thr4050Ser) | |
4 | g.125468761C>A | CA104860484 | FAT4 | c.12155C>A (p.Thr4052Asn) c.6926C>A (p.Thr2309Asn) c.6938C>A (p.Thr2313Asn) c.12149C>A (p.Thr4050Asn) | dbSNP gnomAD v4 |
4 | g.125468761C= | CA1491662389 | FAT4 | c.12155C= (p.Thr4052=) c.6926C= (p.Thr2309=) c.6938C= (p.Thr2313=) c.12149C= (p.Thr4050=) | |
4 | g.125468761C>G | CA358128880 | FAT4 | c.12155C>G (p.Thr4052Ser) c.6926C>G (p.Thr2309Ser) c.6938C>G (p.Thr2313Ser) c.12149C>G (p.Thr4050Ser) | |
4 | g.125468761C>T | CA358128879 | FAT4 | c.12155C>T (p.Thr4052Ile) c.6926C>T (p.Thr2309Ile) c.6938C>T (p.Thr2313Ile) c.12149C>T (p.Thr4050Ile) | |
4 | g.125468762C>A | CA441373027 | FAT4 | c.12156C>A (p.Thr4052=) c.6927C>A (p.Thr2309=) c.6939C>A (p.Thr2313=) c.12150C>A (p.Thr4050=) | dbSNP |
4 | g.125468762C= | CA1491662390 | FAT4 | c.12156C= (p.Thr4052=) c.6927C= (p.Thr2309=) c.6939C= (p.Thr2313=) c.12150C= (p.Thr4050=) | |
4 | g.125468762C>G | CA441373028 | FAT4 | c.12156C>G (p.Thr4052=) c.6927C>G (p.Thr2309=) c.6939C>G (p.Thr2313=) c.12150C>G (p.Thr4050=) | |
4 | g.125468762C>T | CA441373029 | FAT4 | c.12156C>T (p.Thr4052=) c.6927C>T (p.Thr2309=) c.6939C>T (p.Thr2313=) c.12150C>T (p.Thr4050=) | |
4 | g.125468763A>C | CA358128884 | FAT4 | c.12157A>C (p.Met4053Leu) c.6928A>C (p.Met2310Leu) c.6940A>C (p.Met2314Leu) c.12151A>C (p.Met4051Leu) | |
4 | g.125468763A>G | CA358128890 | FAT4 | c.12157A>G (p.Met4053Val) c.6928A>G (p.Met2310Val) c.6940A>G (p.Met2314Val) c.12151A>G (p.Met4051Val) | ClinVar gnomAD v4 |
4 | g.125468763A>T | CA358128887 | FAT4 | c.12157A>T (p.Met4053Leu) c.6928A>T (p.Met2310Leu) c.6940A>T (p.Met2314Leu) c.12151A>T (p.Met4051Leu) | |
4 | g.125468764T>A | CA358128893 | FAT4 | c.12158T>A (p.Met4053Lys) c.6929T>A (p.Met2310Lys) c.6941T>A (p.Met2314Lys) c.12152T>A (p.Met4051Lys) | gnomAD v4 |
4 | g.125468764T>C | CA358128898 | FAT4 | c.12158T>C (p.Met4053Thr) c.6929T>C (p.Met2310Thr) c.6941T>C (p.Met2314Thr) c.12152T>C (p.Met4051Thr) | dbSNP |
4 | g.125468764T>G | CA358128895 | FAT4 | c.12158T>G (p.Met4053Arg) c.6929T>G (p.Met2310Arg) c.6941T>G (p.Met2314Arg) c.12152T>G (p.Met4051Arg) | |
4 | g.125468765G>A | CA104860485 | FAT4 | c.12159G>A (p.Met4053Ile) c.6930G>A (p.Met2310Ile) c.6942G>A (p.Met2314Ile) c.12153G>A (p.Met4051Ile) | dbSNP COSMIC COSMIC |
4 | g.125468765G>C | CA358128904 | FAT4 | c.12159G>C (p.Met4053Ile) c.6930G>C (p.Met2310Ile) c.6942G>C (p.Met2314Ile) c.12153G>C (p.Met4051Ile) | |
4 | g.125468765G= | CA1491662391 | FAT4 | c.12159G= (p.Met4053=) c.6930G= (p.Met2310=) c.6942G= (p.Met2314=) c.12153G= (p.Met4051=) | |
4 | g.125468765G>T | CA358128907 | FAT4 | c.12159G>T (p.Met4053Ile) c.6930G>T (p.Met2310Ile) c.6942G>T (p.Met2314Ile) c.12153G>T (p.Met4051Ile) | |
4 | g.125468766A>C | CA358128911 | FAT4 | c.12160A>C (p.Lys4054Gln) c.6931A>C (p.Lys2311Gln) c.6943A>C (p.Lys2315Gln) c.12154A>C (p.Lys4052Gln) | |
4 | g.125468766A>G | CA358128917 | FAT4 | c.12160A>G (p.Lys4054Glu) c.6931A>G (p.Lys2311Glu) c.6943A>G (p.Lys2315Glu) c.12154A>G (p.Lys4052Glu) | |
4 | g.125468766A>T | CA358128919 | FAT4 | c.12160A>T (p.Lys4054Ter) c.6931A>T (p.Lys2311Ter) c.6943A>T (p.Lys2315Ter) c.12154A>T (p.Lys4052Ter) | |
4 | g.125468767A>C | CA358128926 | FAT4 | c.12161A>C (p.Lys4054Thr) c.6932A>C (p.Lys2311Thr) c.6944A>C (p.Lys2315Thr) c.12155A>C (p.Lys4052Thr) | |
4 | g.125468767A>G | CA358128921 | FAT4 | c.12161A>G (p.Lys4054Arg) c.6932A>G (p.Lys2311Arg) c.6944A>G (p.Lys2315Arg) c.12155A>G (p.Lys4052Arg) | |
4 | g.125468767A>T | CA358128923 | FAT4 | c.12161A>T (p.Lys4054Met) c.6932A>T (p.Lys2311Met) c.6944A>T (p.Lys2315Met) c.12155A>T (p.Lys4052Met) | |
4 | g.125468768G>A | CA441373030 | FAT4 | c.12162G>A (p.Lys4054=) c.6933G>A (p.Lys2311=) c.6945G>A (p.Lys2315=) c.12156G>A (p.Lys4052=) | |
4 | g.125468768G>C | CA358128930 | FAT4 | c.12162G>C (p.Lys4054Asn) c.6933G>C (p.Lys2311Asn) c.6945G>C (p.Lys2315Asn) c.12156G>C (p.Lys4052Asn) | |
4 | g.125468768G>T | CA358128933 | FAT4 | c.12162G>T (p.Lys4054Asn) c.6933G>T (p.Lys2311Asn) c.6945G>T (p.Lys2315Asn) c.12156G>T (p.Lys4052Asn) | |
4 | g.125468769A>C | CA358128937 | FAT4 | c.12163A>C (p.Lys4055Gln) c.6934A>C (p.Lys2312Gln) c.6946A>C (p.Lys2316Gln) c.12157A>C (p.Lys4053Gln) | |
4 | g.125468769A>G | CA358128939 | FAT4 | c.12163A>G (p.Lys4055Glu) c.6934A>G (p.Lys2312Glu) c.6946A>G (p.Lys2316Glu) c.12157A>G (p.Lys4053Glu) | |
4 | g.125468769A>T | CA358128943 | FAT4 | c.12163A>T (p.Lys4055Ter) c.6934A>T (p.Lys2312Ter) c.6946A>T (p.Lys2316Ter) c.12157A>T (p.Lys4053Ter) | |
4 | g.125468770A>C | CA358128954 | FAT4 | c.12164A>C (p.Lys4055Thr) c.6935A>C (p.Lys2312Thr) c.6947A>C (p.Lys2316Thr) c.12158A>C (p.Lys4053Thr) | |
4 | g.125468770A>G | CA358128948 | FAT4 | c.12164A>G (p.Lys4055Arg) c.6935A>G (p.Lys2312Arg) c.6947A>G (p.Lys2316Arg) c.12158A>G (p.Lys4053Arg) | |
4 | g.125468770A>T | CA358128951 | FAT4 | c.12164A>T (p.Lys4055Met) c.6935A>T (p.Lys2312Met) c.6947A>T (p.Lys2316Met) c.12158A>T (p.Lys4053Met) | gnomAD v4 |
4 | g.125468771G>A | CA441373031 | FAT4 | c.12165G>A (p.Lys4055=) c.6936G>A (p.Lys2312=) c.6948G>A (p.Lys2316=) c.12159G>A (p.Lys4053=) | gnomAD v4 |
4 | g.125468771G>C | CA358128957 | FAT4 | c.12165G>C (p.Lys4055Asn) c.6936G>C (p.Lys2312Asn) c.6948G>C (p.Lys2316Asn) c.12159G>C (p.Lys4053Asn) | |
4 | g.125468771G>T | CA358128959 | FAT4 | c.12165G>T (p.Lys4055Asn) c.6936G>T (p.Lys2312Asn) c.6948G>T (p.Lys2316Asn) c.12159G>T (p.Lys4053Asn) | |
4 | g.125468772G>A | CA358128962 | FAT4 | c.12166G>A (p.Val4056Met) c.6937G>A (p.Val2313Met) c.6949G>A (p.Val2317Met) c.12160G>A (p.Val4054Met) | |
4 | g.125468772G>C | CA358128964 | FAT4 | c.12166G>C (p.Val4056Leu) c.6937G>C (p.Val2313Leu) c.6949G>C (p.Val2317Leu) c.12160G>C (p.Val4054Leu) | |
4 | g.125468772G= | CA1491662392 | FAT4 | c.12166G= (p.Val4056=) c.6937G= (p.Val2313=) c.6949G= (p.Val2317=) c.12160G= (p.Val4054=) | |
4 | g.125468772G>T | CA3074016 | FAT4 | c.12166G>T (p.Val4056Leu) c.6937G>T (p.Val2313Leu) c.6949G>T (p.Val2317Leu) c.12160G>T (p.Val4054Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125468773T>A | CA358128968 | FAT4 | c.12167T>A (p.Val4056Glu) c.6938T>A (p.Val2313Glu) c.6950T>A (p.Val2317Glu) c.12161T>A (p.Val4054Glu) | |
4 | g.125468773T>C | CA358128972 | FAT4 | c.12167T>C (p.Val4056Ala) c.6938T>C (p.Val2313Ala) c.6950T>C (p.Val2317Ala) c.12161T>C (p.Val4054Ala) | gnomAD v4 |
4 | g.125468773T>G | CA358128975 | FAT4 | c.12167T>G (p.Val4056Gly) c.6938T>G (p.Val2313Gly) c.6950T>G (p.Val2317Gly) c.12161T>G (p.Val4054Gly) | |
4 | g.125468774G>A | CA441373033 | FAT4 | c.12168G>A (p.Val4056=) c.6939G>A (p.Val2313=) c.6951G>A (p.Val2317=) c.12162G>A (p.Val4054=) | |
4 | g.125468774G>C | CA441373032 | FAT4 | c.12168G>C (p.Val4056=) c.6939G>C (p.Val2313=) c.6951G>C (p.Val2317=) c.12162G>C (p.Val4054=) | |
4 | g.125468774G= | CA1491662393 | FAT4 | c.12168G= (p.Val4056=) c.6939G= (p.Val2313=) c.6951G= (p.Val2317=) c.12162G= (p.Val4054=) | |
4 | g.125468774G>T | CA3074017 | FAT4 | c.12168G>T (p.Val4056=) c.6939G>T (p.Val2313=) c.6951G>T (p.Val2317=) c.12162G>T (p.Val4054=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125468775T>A | CA358128981 | FAT4 | c.12169T>A (p.Ser4057Thr) c.6940T>A (p.Ser2314Thr) c.6952T>A (p.Ser2318Thr) c.12163T>A (p.Ser4055Thr) | |
4 | g.125468775T>C | CA358128984 | FAT4 | c.12169T>C (p.Ser4057Pro) c.6940T>C (p.Ser2314Pro) c.6952T>C (p.Ser2318Pro) c.12163T>C (p.Ser4055Pro) | |
4 | g.125468775T>G | CA358128986 | FAT4 | c.12169T>G (p.Ser4057Ala) c.6940T>G (p.Ser2314Ala) c.6952T>G (p.Ser2318Ala) c.12163T>G (p.Ser4055Ala) | COSMIC COSMIC |
4 | g.125468776C>A | CA358128989 | FAT4 | c.12170C>A (p.Ser4057Ter) c.6941C>A (p.Ser2314Ter) c.6953C>A (p.Ser2318Ter) c.12164C>A (p.Ser4055Ter) | |
4 | g.125468776C= | CA1491662394 | FAT4 | c.12170C= (p.Ser4057=) c.6941C= (p.Ser2314=) c.6953C= (p.Ser2318=) c.12164C= (p.Ser4055=) | |
4 | g.125468776C>G | CA358128995 | FAT4 | c.12170C>G (p.Ser4057Ter) c.6941C>G (p.Ser2314Ter) c.6953C>G (p.Ser2318Ter) c.12164C>G (p.Ser4055Ter) | |
4 | g.125468776C>T | CA358128992 | FAT4 | c.12170C>T (p.Ser4057Leu) c.6941C>T (p.Ser2314Leu) c.6953C>T (p.Ser2318Leu) c.12164C>T (p.Ser4055Leu) | |
4 | g.125468777A= | CA1491662396 | FAT4 | c.12171A= (p.Ser4057=) c.6942A= (p.Ser2314=) c.6954A= (p.Ser2318=) c.12165A= (p.Ser4055=) | |
4 | g.125468777A>C | CA441373034 | FAT4 | c.12171A>C (p.Ser4057=) c.6942A>C (p.Ser2314=) c.6954A>C (p.Ser2318=) c.12165A>C (p.Ser4055=) | |
4 | g.125468777A>G | CA441373035 | FAT4 | c.12171A>G (p.Ser4057=) c.6942A>G (p.Ser2314=) c.6954A>G (p.Ser2318=) c.12165A>G (p.Ser4055=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125468777A>T | CA441373036 | FAT4 | c.12171A>T (p.Ser4057=) c.6942A>T (p.Ser2314=) c.6954A>T (p.Ser2318=) c.12165A>T (p.Ser4055=) | |
4 | g.125468777_125468778insTA | CA1491662395 | FAT4 | c.12171_12172insTA (p.Asp4058Ter) c.6942_6943insTA (p.Asp2315Ter) c.6954_6955insTA (p.Asp2319Ter) c.12165_12166insTA (p.Asp4056Ter) | dbSNP |
4 | g.125468778G>A | CA358128998 | FAT4 | c.12172G>A (p.Asp4058Asn) c.6943G>A (p.Asp2315Asn) c.6955G>A (p.Asp2319Asn) c.12166G>A (p.Asp4056Asn) | |
4 | g.125468778G>C | CA358129001 | FAT4 | c.12172G>C (p.Asp4058His) c.6943G>C (p.Asp2315His) c.6955G>C (p.Asp2319His) c.12166G>C (p.Asp4056His) | |
4 | g.125468778G= | CA1491662397 | FAT4 | c.12172G= (p.Asp4058=) c.6943G= (p.Asp2315=) c.6955G= (p.Asp2319=) c.12166G= (p.Asp4056=) | |
4 | g.125468778G>T | CA358129003 | FAT4 | c.12172G>T (p.Asp4058Tyr) c.6943G>T (p.Asp2315Tyr) c.6955G>T (p.Asp2319Tyr) c.12166G>T (p.Asp4056Tyr) | |
4 | g.125468778_125468779insTTGTAAAGCA | CA1491662398 | FAT4 | c.12172_12173insTTGTAAAGCA (p.Asp4058ValfsTer28) c.6943_6944insTTGTAAAGCA (p.Asp2315ValfsTer28) c.6955_6956insTTGTAAAGCA (p.Asp2319ValfsTer28) c.12166_12167insTTGTAAAGCA (p.Asp4056ValfsTer28) | dbSNP |
4 | g.125468779A>C | CA358129007 | FAT4 | c.12173A>C (p.Asp4058Ala) c.6944A>C (p.Asp2315Ala) c.6956A>C (p.Asp2319Ala) c.12167A>C (p.Asp4056Ala) | |
4 | g.125468779A>G | CA358129010 | FAT4 | c.12173A>G (p.Asp4058Gly) c.6944A>G (p.Asp2315Gly) c.6956A>G (p.Asp2319Gly) c.12167A>G (p.Asp4056Gly) | |
4 | g.125468779A>T | CA358129012 | FAT4 | c.12173A>T (p.Asp4058Val) c.6944A>T (p.Asp2315Val) c.6956A>T (p.Asp2319Val) c.12167A>T (p.Asp4056Val) | |
4 | g.125468780T>A | CA358129014 | FAT4 | c.12174T>A (p.Asp4058Glu) c.6945T>A (p.Asp2315Glu) c.6957T>A (p.Asp2319Glu) c.12168T>A (p.Asp4056Glu) | |
4 | g.125468780T>C | CA441373037 | FAT4 | c.12174T>C (p.Asp4058=) c.6945T>C (p.Asp2315=) c.6957T>C (p.Asp2319=) c.12168T>C (p.Asp4056=) | dbSNP |
4 | g.125468780T>G | CA358129017 | FAT4 | c.12174T>G (p.Asp4058Glu) c.6945T>G (p.Asp2315Glu) c.6957T>G (p.Asp2319Glu) c.12168T>G (p.Asp4056Glu) | gnomAD v4 |
4 | g.125468781G>A | CA358129019 | FAT4 | c.12175G>A (p.Gly4059Arg) c.6946G>A (p.Gly2316Arg) c.6958G>A (p.Gly2320Arg) c.12169G>A (p.Gly4057Arg) | |
4 | g.125468781G>C | CA358129022 | FAT4 | c.12175G>C (p.Gly4059Arg) c.6946G>C (p.Gly2316Arg) c.6958G>C (p.Gly2320Arg) c.12169G>C (p.Gly4057Arg) | |
4 | g.125468781G>T | CA358129025 | FAT4 | c.12175G>T (p.Gly4059Ter) c.6946G>T (p.Gly2316Ter) c.6958G>T (p.Gly2320Ter) c.12169G>T (p.Gly4057Ter) | |
4 | g.125468782G>A | CA358129035 | FAT4 | c.12176G>A (p.Gly4059Glu) c.6947G>A (p.Gly2316Glu) c.6959G>A (p.Gly2320Glu) c.12170G>A (p.Gly4057Glu) | COSMIC COSMIC |
4 | g.125468782G>C | CA358129032 | FAT4 | c.12176G>C (p.Gly4059Ala) c.6947G>C (p.Gly2316Ala) c.6959G>C (p.Gly2320Ala) c.12170G>C (p.Gly4057Ala) | |
4 | g.125468782G>T | CA358129028 | FAT4 | c.12176G>T (p.Gly4059Val) c.6947G>T (p.Gly2316Val) c.6959G>T (p.Gly2320Val) c.12170G>T (p.Gly4057Val) | |
4 | g.125468783A= | CA1491662399 | FAT4 | c.12177A= (p.Gly4059=) c.6948A= (p.Gly2316=) c.6960A= (p.Gly2320=) c.12171A= (p.Gly4057=) | |
4 | g.125468783A>C | CA441373038 | FAT4 | c.12177A>C (p.Gly4059=) c.6948A>C (p.Gly2316=) c.6960A>C (p.Gly2320=) c.12171A>C (p.Gly4057=) | |
4 | g.125468783A>G | CA441373039 | FAT4 | c.12177A>G (p.Gly4059=) c.6948A>G (p.Gly2316=) c.6960A>G (p.Gly2320=) c.12171A>G (p.Gly4057=) | |
4 | g.125468783A>T | CA441373040 | FAT4 | c.12177A>T (p.Gly4059=) c.6948A>T (p.Gly2316=) c.6960A>T (p.Gly2320=) c.12171A>T (p.Gly4057=) | dbSNP COSMIC COSMIC |
4 | g.125468784C>A | CA358129037 | FAT4 | c.12178C>A (p.His4060Asn) c.6949C>A (p.His2317Asn) c.6961C>A (p.His2321Asn) c.12172C>A (p.His4058Asn) | |
4 | g.125468784C= | CA1491662400 | FAT4 | c.12178C= (p.His4060=) c.6949C= (p.His2317=) c.6961C= (p.His2321=) c.12172C= (p.His4058=) | |
4 | g.125468784C>G | CA358129041 | FAT4 | c.12178C>G (p.His4060Asp) c.6949C>G (p.His2317Asp) c.6961C>G (p.His2321Asp) c.12172C>G (p.His4058Asp) | |
4 | g.125468784C>T | CA3074018 | FAT4 | c.12178C>T (p.His4060Tyr) c.6949C>T (p.His2317Tyr) c.6961C>T (p.His2321Tyr) c.12172C>T (p.His4058Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125468785A= | CA1491662401 | FAT4 | c.12179A= (p.His4060=) c.6950A= (p.His2317=) c.6962A= (p.His2321=) c.12173A= (p.His4058=) | |
4 | g.125468785A>C | CA358129046 | FAT4 | c.12179A>C (p.His4060Pro) c.6950A>C (p.His2317Pro) c.6962A>C (p.His2321Pro) c.12173A>C (p.His4058Pro) | |
4 | g.125468785A>G | CA3074019 | FAT4 | c.12179A>G (p.His4060Arg) c.6950A>G (p.His2317Arg) c.6962A>G (p.His2321Arg) c.12173A>G (p.His4058Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125468785A>T | CA358129051 | FAT4 | c.12179A>T (p.His4060Leu) c.6950A>T (p.His2317Leu) c.6962A>T (p.His2321Leu) c.12173A>T (p.His4058Leu) | |
4 | g.125468786T>A | CA358129053 | FAT4 | c.12180T>A (p.His4060Gln) c.6951T>A (p.His2317Gln) c.6963T>A (p.His2321Gln) c.12174T>A (p.His4058Gln) | |
4 | g.125468786T>C | CA441373041 | FAT4 | c.12180T>C (p.His4060=) c.6951T>C (p.His2317=) c.6963T>C (p.His2321=) c.12174T>C (p.His4058=) | ClinVar |
4 | g.125468786T>G | CA358129055 | FAT4 | c.12180T>G (p.His4060Gln) c.6951T>G (p.His2317Gln) c.6963T>G (p.His2321Gln) c.12174T>G (p.His4058Gln) | |
4 | g.125468789del | CA645528128 | FAT4 | c.12183del (p.His4062ThrfsTer3) c.6954del (p.His2319ThrfsTer3) c.6966del (p.His2323ThrfsTer3) c.12177del (p.His4060ThrfsTer3) | COSMIC COSMIC COSMIC |
4 | g.125468787T>A | CA358129062 | FAT4 | c.12181T>A (p.Phe4061Ile) c.6952T>A (p.Phe2318Ile) c.6964T>A (p.Phe2322Ile) c.12175T>A (p.Phe4059Ile) | |
4 | g.125468787T>C | CA358129064 | FAT4 | c.12181T>C (p.Phe4061Leu) c.6952T>C (p.Phe2318Leu) c.6964T>C (p.Phe2322Leu) c.12175T>C (p.Phe4059Leu) | |
4 | g.125468787T>G | CA358129066 | FAT4 | c.12181T>G (p.Phe4061Val) c.6952T>G (p.Phe2318Val) c.6964T>G (p.Phe2322Val) c.12175T>G (p.Phe4059Val) | |
4 | g.125468788T>A | CA358129072 | FAT4 | c.12182T>A (p.Phe4061Tyr) c.6953T>A (p.Phe2318Tyr) c.6965T>A (p.Phe2322Tyr) c.12176T>A (p.Phe4059Tyr) | |
4 | g.125468788T>C | CA358129071 | FAT4 | c.12182T>C (p.Phe4061Ser) c.6953T>C (p.Phe2318Ser) c.6965T>C (p.Phe2322Ser) c.12176T>C (p.Phe4059Ser) | |
4 | g.125468788T>G | CA358129068 | FAT4 | c.12182T>G (p.Phe4061Cys) c.6953T>G (p.Phe2318Cys) c.6965T>G (p.Phe2322Cys) c.12176T>G (p.Phe4059Cys) | |
4 | g.125468789T>A | CA358129075 | FAT4 | c.12183T>A (p.Phe4061Leu) c.6954T>A (p.Phe2318Leu) c.6966T>A (p.Phe2322Leu) c.12177T>A (p.Phe4059Leu) | |
4 | g.125468789T>C | CA441373042 | FAT4 | c.12183T>C (p.Phe4061=) c.6954T>C (p.Phe2318=) c.6966T>C (p.Phe2322=) c.12177T>C (p.Phe4059=) | gnomAD v4 |
4 | g.125468789T>G | CA358129077 | FAT4 | c.12183T>G (p.Phe4061Leu) c.6954T>G (p.Phe2318Leu) c.6966T>G (p.Phe2322Leu) c.12177T>G (p.Phe4059Leu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125468789T= | CA1491662402 | FAT4 | c.12183T= (p.Phe4061=) c.6954T= (p.Phe2318=) c.6966T= (p.Phe2322=) c.12177T= (p.Phe4059=) | |
4 | g.125468790C>A | CA358129079 | FAT4 | c.12184C>A (p.His4062Asn) c.6955C>A (p.His2319Asn) c.6967C>A (p.His2323Asn) c.12178C>A (p.His4060Asn) | |
4 | g.125468790C>G | CA358129081 | FAT4 | c.12184C>G (p.His4062Asp) c.6955C>G (p.His2319Asp) c.6967C>G (p.His2323Asp) c.12178C>G (p.His4060Asp) | |
4 | g.125468790C>T | CA358129085 | FAT4 | c.12184C>T (p.His4062Tyr) c.6955C>T (p.His2319Tyr) c.6967C>T (p.His2323Tyr) c.12178C>T (p.His4060Tyr) | |
4 | g.125468791A>C | CA358129088 | FAT4 | c.12185A>C (p.His4062Pro) c.6956A>C (p.His2319Pro) c.6968A>C (p.His2323Pro) c.12179A>C (p.His4060Pro) | |
4 | g.125468791A>G | CA358129091 | FAT4 | c.12185A>G (p.His4062Arg) c.6956A>G (p.His2319Arg) c.6968A>G (p.His2323Arg) c.12179A>G (p.His4060Arg) | |
4 | g.125468791A>T | CA358129092 | FAT4 | c.12185A>T (p.His4062Leu) c.6956A>T (p.His2319Leu) c.6968A>T (p.His2323Leu) c.12179A>T (p.His4060Leu) | |
4 | g.125468792C>A | CA358129097 | FAT4 | c.12186C>A (p.His4062Gln) c.6957C>A (p.His2319Gln) c.6969C>A (p.His2323Gln) c.12180C>A (p.His4060Gln) | |
4 | g.125468792C>G | CA358129101 | FAT4 | c.12186C>G (p.His4062Gln) c.6957C>G (p.His2319Gln) c.6969C>G (p.His2323Gln) c.12180C>G (p.His4060Gln) | |
4 | g.125468792C>T | CA441204205 | FAT4 | c.12186C>T (p.His4062=) c.6957C>T (p.His2319=) c.6969C>T (p.His2323=) c.12180C>T (p.His4060=) | |
4 | g.125468793A= | CA1491662403 | FAT4 | c.12187A= (p.Thr4063=) c.6958A= (p.Thr2320=) c.6970A= (p.Thr2324=) c.12181A= (p.Thr4061=) | |
4 | g.125468793A>C | CA358129104 | FAT4 | c.12187A>C (p.Thr4063Pro) c.6958A>C (p.Thr2320Pro) c.6970A>C (p.Thr2324Pro) c.12181A>C (p.Thr4061Pro) | |
4 | g.125468793A>G | CA3074020 | FAT4 | c.12187A>G (p.Thr4063Ala) c.6958A>G (p.Thr2320Ala) c.6970A>G (p.Thr2324Ala) c.12181A>G (p.Thr4061Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125468793A>T | CA358129109 | FAT4 | c.12187A>T (p.Thr4063Ser) c.6958A>T (p.Thr2320Ser) c.6970A>T (p.Thr2324Ser) c.12181A>T (p.Thr4061Ser) | |
4 | g.125468794C>A | CA358129116 | FAT4 | c.12188C>A (p.Thr4063Asn) c.6959C>A (p.Thr2320Asn) c.6971C>A (p.Thr2324Asn) c.12182C>A (p.Thr4061Asn) | |
4 | g.125468794C>G | CA358129114 | FAT4 | c.12188C>G (p.Thr4063Ser) c.6959C>G (p.Thr2320Ser) c.6971C>G (p.Thr2324Ser) c.12182C>G (p.Thr4061Ser) | |
4 | g.125468794C>T | CA358129112 | FAT4 | c.12188C>T (p.Thr4063Ile) c.6959C>T (p.Thr2320Ile) c.6971C>T (p.Thr2324Ile) c.12182C>T (p.Thr4061Ile) | |
4 | g.125468795T>A | CA441204211 | FAT4 | c.12189T>A (p.Thr4063=) c.6960T>A (p.Thr2320=) c.6972T>A (p.Thr2324=) c.12183T>A (p.Thr4061=) | |
4 | g.125468795T>C | CA441204210 | FAT4 | c.12189T>C (p.Thr4063=) c.6960T>C (p.Thr2320=) c.6972T>C (p.Thr2324=) c.12183T>C (p.Thr4061=) | dbSNP gnomAD v4 |
4 | g.125468795T>G | CA441204209 | FAT4 | c.12189T>G (p.Thr4063=) c.6960T>G (p.Thr2320=) c.6972T>G (p.Thr2324=) c.12183T>G (p.Thr4061=) | dbSNP gnomAD v4 |
4 | g.125468795T= | CA1491662404 | FAT4 | c.12189T= (p.Thr4063=) c.6960T= (p.Thr2320=) c.6972T= (p.Thr2324=) c.12183T= (p.Thr4061=) | |
4 | g.125468796G>A | CA358129120 | FAT4 | c.12190G>A (p.Val4064Met) c.6961G>A (p.Val2321Met) c.6973G>A (p.Val2325Met) c.12184G>A (p.Val4062Met) | dbSNP |
4 | g.125468796G>C | CA358129124 | FAT4 | c.12190G>C (p.Val4064Leu) c.6961G>C (p.Val2321Leu) c.6973G>C (p.Val2325Leu) c.12184G>C (p.Val4062Leu) | |
4 | g.125468796G= | CA1491662405 | FAT4 | c.12190G= (p.Val4064=) c.6961G= (p.Val2321=) c.6973G= (p.Val2325=) c.12184G= (p.Val4062=) | |
4 | g.125468796G>T | CA358129127 | FAT4 | c.12190G>T (p.Val4064Leu) c.6961G>T (p.Val2321Leu) c.6973G>T (p.Val2325Leu) c.12184G>T (p.Val4062Leu) | |
4 | g.125468797T>A | CA358129130 | FAT4 | c.12191T>A (p.Val4064Glu) c.6962T>A (p.Val2321Glu) c.6974T>A (p.Val2325Glu) c.12185T>A (p.Val4062Glu) | |
4 | g.125468797T>C | CA358129134 | FAT4 | c.12191T>C (p.Val4064Ala) c.6962T>C (p.Val2321Ala) c.6974T>C (p.Val2325Ala) c.12185T>C (p.Val4062Ala) | |
4 | g.125468797T>G | CA358129136 | FAT4 | c.12191T>G (p.Val4064Gly) c.6962T>G (p.Val2321Gly) c.6974T>G (p.Val2325Gly) c.12185T>G (p.Val4062Gly) | |
4 | g.125468798G>A | CA441204213 | FAT4 | c.12192G>A (p.Val4064=) c.6963G>A (p.Val2321=) c.6975G>A (p.Val2325=) c.12186G>A (p.Val4062=) | |
4 | g.125468798G>C | CA441204214 | FAT4 | c.12192G>C (p.Val4064=) c.6963G>C (p.Val2321=) c.6975G>C (p.Val2325=) c.12186G>C (p.Val4062=) | |
4 | g.125468798G>T | CA441204215 | FAT4 | c.12192G>T (p.Val4064=) c.6963G>T (p.Val2321=) c.6975G>T (p.Val2325=) c.12186G>T (p.Val4062=) | |
4 | g.125468799A= | CA1491662406 | FAT4 | c.12193A= (p.Ile4065=) c.6964A= (p.Ile2322=) c.6976A= (p.Ile2326=) c.12187A= (p.Ile4063=) | |
4 | g.125468799A>C | CA358129142 | FAT4 | c.12193A>C (p.Ile4065Leu) c.6964A>C (p.Ile2322Leu) c.6976A>C (p.Ile2326Leu) c.12187A>C (p.Ile4063Leu) | |
4 | g.125468799A>G | CA358129145 | FAT4 | c.12193A>G (p.Ile4065Val) c.6964A>G (p.Ile2322Val) c.6976A>G (p.Ile2326Val) c.12187A>G (p.Ile4063Val) | |
4 | g.125468799A>T | CA358129149 | FAT4 | c.12193A>T (p.Ile4065Phe) c.6964A>T (p.Ile2322Phe) c.6976A>T (p.Ile2326Phe) c.12187A>T (p.Ile4063Phe) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125468800T>A | CA358129154 | FAT4 | c.12194T>A (p.Ile4065Asn) c.6965T>A (p.Ile2322Asn) c.6977T>A (p.Ile2326Asn) c.12188T>A (p.Ile4063Asn) | |
4 | g.125468800T>C | CA358129160 | FAT4 | c.12194T>C (p.Ile4065Thr) c.6965T>C (p.Ile2322Thr) c.6977T>C (p.Ile2326Thr) c.12188T>C (p.Ile4063Thr) | |
4 | g.125468800T>G | CA358129162 | FAT4 | c.12194T>G (p.Ile4065Ser) c.6965T>G (p.Ile2322Ser) c.6977T>G (p.Ile2326Ser) c.12188T>G (p.Ile4063Ser) | |
4 | g.125468801T>A | CA441204218 | FAT4 | c.12195T>A (p.Ile4065=) c.6966T>A (p.Ile2322=) c.6978T>A (p.Ile2326=) c.12189T>A (p.Ile4063=) | |
4 | g.125468801T>C | CA441204220 | FAT4 | c.12195T>C (p.Ile4065=) c.6966T>C (p.Ile2322=) c.6978T>C (p.Ile2326=) c.12189T>C (p.Ile4063=) | |
4 | g.125468801T>G | CA358129164 | FAT4 | c.12195T>G (p.Ile4065Met) c.6966T>G (p.Ile2322Met) c.6978T>G (p.Ile2326Met) c.12189T>G (p.Ile4063Met) | |
4 | g.125468802G>A | CA358129168 | FAT4 | c.12196G>A (p.Ala4066Thr) c.6967G>A (p.Ala2323Thr) c.6979G>A (p.Ala2327Thr) c.12190G>A (p.Ala4064Thr) | gnomAD v4 |
4 | g.125468802G>C | CA358129169 | FAT4 | c.12196G>C (p.Ala4066Pro) c.6967G>C (p.Ala2323Pro) c.6979G>C (p.Ala2327Pro) c.12190G>C (p.Ala4064Pro) | |
4 | g.125468802G>T | CA358129167 | FAT4 | c.12196G>T (p.Ala4066Ser) c.6967G>T (p.Ala2323Ser) c.6979G>T (p.Ala2327Ser) c.12190G>T (p.Ala4064Ser) | |
4 | g.125468803C>A | CA358129171 | FAT4 | c.12197C>A (p.Ala4066Asp) c.6968C>A (p.Ala2323Asp) c.6980C>A (p.Ala2327Asp) c.12191C>A (p.Ala4064Asp) | gnomAD v4 |
4 | g.125468803C= | CA1491662407 | FAT4 | c.12197C= (p.Ala4066=) c.6968C= (p.Ala2323=) c.6980C= (p.Ala2327=) c.12191C= (p.Ala4064=) | |
4 | g.125468803C>G | CA358129175 | FAT4 | c.12197C>G (p.Ala4066Gly) c.6968C>G (p.Ala2323Gly) c.6980C>G (p.Ala2327Gly) c.12191C>G (p.Ala4064Gly) | |
4 | g.125468803C>T | CA104860510 | FAT4 | c.12197C>T (p.Ala4066Val) c.6968C>T (p.Ala2323Val) c.6980C>T (p.Ala2327Val) c.12191C>T (p.Ala4064Val) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125468804C>A | CA441204221 | FAT4 | c.12198C>A (p.Ala4066=) c.6969C>A (p.Ala2323=) c.6981C>A (p.Ala2327=) c.12192C>A (p.Ala4064=) | |
4 | g.125468804C= | CA1491662408 | FAT4 | c.12198C= (p.Ala4066=) c.6969C= (p.Ala2323=) c.6981C= (p.Ala2327=) c.12192C= (p.Ala4064=) | |
4 | g.125468804C>G | CA441204222 | FAT4 | c.12198C>G (p.Ala4066=) c.6969C>G (p.Ala2323=) c.6981C>G (p.Ala2327=) c.12192C>G (p.Ala4064=) | |
4 | g.125468804C>T | CA441204223 | FAT4 | c.12198C>T (p.Ala4066=) c.6969C>T (p.Ala2323=) c.6981C>T (p.Ala2327=) c.12192C>T (p.Ala4064=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125468805A>C | CA441204224 | FAT4 | c.12199A>C (p.Arg4067=) c.6970A>C (p.Arg2324=) c.6982A>C (p.Arg2328=) c.12193A>C (p.Arg4065=) | |
4 | g.125468805A>G | CA358129181 | FAT4 | c.12199A>G (p.Arg4067Gly) c.6970A>G (p.Arg2324Gly) c.6982A>G (p.Arg2328Gly) c.12193A>G (p.Arg4065Gly) | gnomAD v4 COSMIC COSMIC |
4 | g.125468805A>T | CA358129182 | FAT4 | c.12199A>T (p.Arg4067Trp) c.6970A>T (p.Arg2324Trp) c.6982A>T (p.Arg2328Trp) c.12193A>T (p.Arg4065Trp) | |
4 | g.125468806G>A | CA358129187 | FAT4 | c.12200G>A (p.Arg4067Lys) c.6971G>A (p.Arg2324Lys) c.6983G>A (p.Arg2328Lys) c.12194G>A (p.Arg4065Lys) | |
4 | g.125468806G>C | CA358129190 | FAT4 | c.12200G>C (p.Arg4067Thr) c.6971G>C (p.Arg2324Thr) c.6983G>C (p.Arg2328Thr) c.12194G>C (p.Arg4065Thr) | |
4 | g.125468806G>T | CA358129192 | FAT4 | c.12200G>T (p.Arg4067Met) c.6971G>T (p.Arg2324Met) c.6983G>T (p.Arg2328Met) c.12194G>T (p.Arg4065Met) | |
4 | g.125468807G>A | CA441204227 | FAT4 | c.12201G>A (p.Arg4067=) c.6972G>A (p.Arg2324=) c.6984G>A (p.Arg2328=) c.12195G>A (p.Arg4065=) | dbSNP COSMIC COSMIC |
4 | g.125468807G>C | CA358129195 | FAT4 | c.12201G>C (p.Arg4067Ser) c.6972G>C (p.Arg2324Ser) c.6984G>C (p.Arg2328Ser) c.12195G>C (p.Arg4065Ser) | COSMIC COSMIC |
4 | g.125468807G= | CA1491662409 | FAT4 | c.12201G= (p.Arg4067=) c.6972G= (p.Arg2324=) c.6984G= (p.Arg2328=) c.12195G= (p.Arg4065=) | |
4 | g.125468807G>T | CA358129198 | FAT4 | c.12201G>T (p.Arg4067Ser) c.6972G>T (p.Arg2324Ser) c.6984G>T (p.Arg2328Ser) c.12195G>T (p.Arg4065Ser) | |
4 | g.125468808A>C | CA441204228 | FAT4 | c.12202A>C (p.Arg4068=) c.6973A>C (p.Arg2325=) c.6985A>C (p.Arg2329=) c.12196A>C (p.Arg4066=) | |
4 | g.125468808A>G | CA358129203 | FAT4 | c.12202A>G (p.Arg4068Gly) c.6973A>G (p.Arg2325Gly) c.6985A>G (p.Arg2329Gly) c.12196A>G (p.Arg4066Gly) | gnomAD v4 |
4 | g.125468808A>T | CA358129205 | FAT4 | c.12202A>T (p.Arg4068Ter) c.6973A>T (p.Arg2325Ter) c.6985A>T (p.Arg2329Ter) c.12196A>T (p.Arg4066Ter) | |
4 | g.125468809G>A | CA358129213 | FAT4 | c.12203G>A (p.Arg4068Lys) c.6974G>A (p.Arg2325Lys) c.6986G>A (p.Arg2329Lys) c.12197G>A (p.Arg4066Lys) | gnomAD v4 |
4 | g.125468809G>C | CA358129208 | FAT4 | c.12203G>C (p.Arg4068Thr) c.6974G>C (p.Arg2325Thr) c.6986G>C (p.Arg2329Thr) c.12197G>C (p.Arg4066Thr) | dbSNP gnomAD v4 |
4 | g.125468809G= | CA1491662410 | FAT4 | c.12203G= (p.Arg4068=) c.6974G= (p.Arg2325=) c.6986G= (p.Arg2329=) c.12197G= (p.Arg4066=) | |
4 | g.125468809G>T | CA104860513 | FAT4 | c.12203G>T (p.Arg4068Ile) c.6974G>T (p.Arg2325Ile) c.6986G>T (p.Arg2329Ile) c.12197G>T (p.Arg4066Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125468810A>C | CA358129216 | FAT4 | c.12204A>C (p.Arg4068Ser) c.6975A>C (p.Arg2325Ser) c.6987A>C (p.Arg2329Ser) c.12198A>C (p.Arg4066Ser) | |
4 | g.125468810A>G | CA441204232 | FAT4 | c.12204A>G (p.Arg4068=) c.6975A>G (p.Arg2325=) c.6987A>G (p.Arg2329=) c.12198A>G (p.Arg4066=) | COSMIC COSMIC |
4 | g.125468810A>T | CA358129219 | FAT4 | c.12204A>T (p.Arg4068Ser) c.6975A>T (p.Arg2325Ser) c.6987A>T (p.Arg2329Ser) c.12198A>T (p.Arg4066Ser) | |
4 | g.125468811G>A | CA358129233 | FAT4 | c.12205G>A (p.Ala4069Thr) c.6976G>A (p.Ala2326Thr) c.6988G>A (p.Ala2330Thr) c.12199G>A (p.Ala4067Thr) | |
4 | g.125468811G>C | CA358129238 | FAT4 | c.12205G>C (p.Ala4069Pro) c.6976G>C (p.Ala2326Pro) c.6988G>C (p.Ala2330Pro) c.12199G>C (p.Ala4067Pro) | |
4 | g.125468811G>T | CA358129240 | FAT4 | c.12205G>T (p.Ala4069Ser) c.6976G>T (p.Ala2326Ser) c.6988G>T (p.Ala2330Ser) c.12199G>T (p.Ala4067Ser) | |
4 | g.125468812C>A | CA358129243 | FAT4 | c.12206C>A (p.Ala4069Glu) c.6977C>A (p.Ala2326Glu) c.6989C>A (p.Ala2330Glu) c.12200C>A (p.Ala4067Glu) | |
4 | g.125468812C= | CA1491662411 | FAT4 | c.12206C= (p.Ala4069=) c.6977C= (p.Ala2326=) c.6989C= (p.Ala2330=) c.12200C= (p.Ala4067=) | |
4 | g.125468812C>G | CA358129246 | FAT4 | c.12206C>G (p.Ala4069Gly) c.6977C>G (p.Ala2326Gly) c.6989C>G (p.Ala2330Gly) c.12200C>G (p.Ala4067Gly) | |
4 | g.125468812C>T | CA358129249 | FAT4 | c.12206C>T (p.Ala4069Val) c.6977C>T (p.Ala2326Val) c.6989C>T (p.Ala2330Val) c.12200C>T (p.Ala4067Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.125468813A>C | CA441204234 | FAT4 | c.12207A>C (p.Ala4069=) c.6978A>C (p.Ala2326=) c.6990A>C (p.Ala2330=) c.12201A>C (p.Ala4067=) | |
4 | g.125468813A>G | CA441204235 | FAT4 | c.12207A>G (p.Ala4069=) c.6978A>G (p.Ala2326=) c.6990A>G (p.Ala2330=) c.12201A>G (p.Ala4067=) | |
4 | g.125468813A>T | CA441204236 | FAT4 | c.12207A>T (p.Ala4069=) c.6978A>T (p.Ala2326=) c.6990A>T (p.Ala2330=) c.12201A>T (p.Ala4067=) | |
4 | g.125468814G>A | CA358129253 | FAT4 | c.12208G>A (p.Gly4070Arg) c.6979G>A (p.Gly2327Arg) c.6991G>A (p.Gly2331Arg) c.12202G>A (p.Gly4068Arg) | |
4 | g.125468814G>C | CA358129256 | FAT4 | c.12208G>C (p.Gly4070Arg) c.6979G>C (p.Gly2327Arg) c.6991G>C (p.Gly2331Arg) c.12202G>C (p.Gly4068Arg) | |
4 | g.125468814G>T | CA358129259 | FAT4 | c.12208G>T (p.Gly4070Ter) c.6979G>T (p.Gly2327Ter) c.6991G>T (p.Gly2331Ter) c.12202G>T (p.Gly4068Ter) | |
4 | g.125468815G>A | CA358129267 | FAT4 | c.12209G>A (p.Gly4070Glu) c.6980G>A (p.Gly2327Glu) c.6992G>A (p.Gly2331Glu) c.12203G>A (p.Gly4068Glu) | |
4 | g.125468815G>C | CA358129264 | FAT4 | c.12209G>C (p.Gly4070Ala) c.6980G>C (p.Gly2327Ala) c.6992G>C (p.Gly2331Ala) c.12203G>C (p.Gly4068Ala) | |
4 | g.125468815G>T | CA358129261 | FAT4 | c.12209G>T (p.Gly4070Val) c.6980G>T (p.Gly2327Val) c.6992G>T (p.Gly2331Val) c.12203G>T (p.Gly4068Val) | |
4 | g.125468816A>C | CA441204240 | FAT4 | c.12210A>C (p.Gly4070=) c.6981A>C (p.Gly2327=) c.6993A>C (p.Gly2331=) c.12204A>C (p.Gly4068=) | |
4 | g.125468816A>G | CA441204239 | FAT4 | c.12210A>G (p.Gly4070=) c.6981A>G (p.Gly2327=) c.6993A>G (p.Gly2331=) c.12204A>G (p.Gly4068=) | |
4 | g.125468816A>T | CA441204238 | FAT4 | c.12210A>T (p.Gly4070=) c.6981A>T (p.Gly2327=) c.6993A>T (p.Gly2331=) c.12204A>T (p.Gly4068=) | |
4 | g.125468817A>C | CA358129270 | FAT4 | c.12211A>C (p.Met4071Leu) c.6982A>C (p.Met2328Leu) c.6994A>C (p.Met2332Leu) c.12205A>C (p.Met4069Leu) | |
4 | g.125468817A>G | CA358129276 | FAT4 | c.12211A>G (p.Met4071Val) c.6982A>G (p.Met2328Val) c.6994A>G (p.Met2332Val) c.12205A>G (p.Met4069Val) | gnomAD v4 COSMIC COSMIC |
4 | g.125468817A>T | CA358129273 | FAT4 | c.12211A>T (p.Met4071Leu) c.6982A>T (p.Met2328Leu) c.6994A>T (p.Met2332Leu) c.12205A>T (p.Met4069Leu) | |
4 | g.125468818T>A | CA358129285 | FAT4 | c.12212T>A (p.Met4071Lys) c.6983T>A (p.Met2328Lys) c.6995T>A (p.Met2332Lys) c.12206T>A (p.Met4069Lys) | |
4 | g.125468818T>C | CA358129290 | FAT4 | c.12212T>C (p.Met4071Thr) c.6983T>C (p.Met2328Thr) c.6995T>C (p.Met2332Thr) c.12206T>C (p.Met4069Thr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125468818T>G | CA358129287 | FAT4 | c.12212T>G (p.Met4071Arg) c.6983T>G (p.Met2328Arg) c.6995T>G (p.Met2332Arg) c.12206T>G (p.Met4069Arg) | |
4 | g.125468818T= | CA1491662412 | FAT4 | c.12212T= (p.Met4071=) c.6983T= (p.Met2328=) c.6995T= (p.Met2332=) c.12206T= (p.Met4069=) | |
4 | g.125468819G>A | CA358129294 | FAT4 | c.12213G>A (p.Met4071Ile) c.6984G>A (p.Met2328Ile) c.6996G>A (p.Met2332Ile) c.12207G>A (p.Met4069Ile) | gnomAD v4 |
4 | g.125468819G>C | CA358129296 | FAT4 | c.12213G>C (p.Met4071Ile) c.6984G>C (p.Met2328Ile) c.6996G>C (p.Met2332Ile) c.12207G>C (p.Met4069Ile) | |
4 | g.125468819G>T | CA358129299 | FAT4 | c.12213G>T (p.Met4071Ile) c.6984G>T (p.Met2328Ile) c.6996G>T (p.Met2332Ile) c.12207G>T (p.Met4069Ile) | |
4 | g.125468820G>A | CA358129301 | FAT4 | c.12213+1G>A (n.12213+1G>A) c.6984+1G>A (n.6984+1G>A) c.6996+1G>A (n.6996+1G>A) c.12207+1G>A (n.12207+1G>A) | |
4 | g.125468820G>C | CA358129305 | FAT4 | c.12213+1G>C (n.12213+1G>C) c.6984+1G>C (n.6984+1G>C) c.6996+1G>C (n.6996+1G>C) c.12207+1G>C (n.12207+1G>C) | |
4 | g.125468820G>T | CA358129307 | FAT4 | c.12213+1G>T (n.12213+1G>T) c.6984+1G>T (n.6984+1G>T) c.6996+1G>T (n.6996+1G>T) c.12207+1G>T (n.12207+1G>T) | |
4 | g.125468821T>A | CA358129316 | FAT4 | c.12213+2T>A (n.12213+2T>A) c.6984+2T>A (n.6984+2T>A) c.6996+2T>A (n.6996+2T>A) c.12207+2T>A (n.12207+2T>A) | |
4 | g.125468821T>C | CA358129318 | FAT4 | c.12213+2T>C (n.12213+2T>C) c.6984+2T>C (n.6984+2T>C) c.6996+2T>C (n.6996+2T>C) c.12207+2T>C (n.12207+2T>C) | |
4 | g.125468821T>G | CA358129321 | FAT4 | c.12213+2T>G (n.12213+2T>G) c.6984+2T>G (n.6984+2T>G) c.6996+2T>G (n.6996+2T>G) c.12207+2T>G (n.12207+2T>G) | |
4 | g.125468821_125468827delinsTAAGATA | CA1491662413 | FAT4 | c.12213+2_12213+8delinsTAAGATA (n.12213+2_12213+8delinsTAAGATA) c.6984+2_6984+8delinsTAAGATA (n.6984+2_6984+8delinsTAAGATA) c.6996+2_6996+8delinsTAAGATA (n.6996+2_6996+8delinsTAAGATA) c.12207+2_12207+8delinsTAAGATA (n.12207+2_12207+8delinsTAAGATA) | |
4 | g.125468822_125468827del | CA554717005 | FAT4 | c.12213+3_12213+8del (n.12213+3_12213+8del) c.6984+3_6984+8del (n.6984+3_6984+8del) c.6996+3_6996+8del (n.6996+3_6996+8del) c.12207+3_12207+8del (n.12207+3_12207+8del) | dbSNP gnomAD v2 |
4 | g.125468824G= | CA1491662414 | FAT4 | c.12213+5G= (n.12213+5G=) c.6984+5G= (n.6984+5G=) c.6996+5G= (n.6996+5G=) c.12207+5G= (n.12207+5G=) | |
4 | g.125468824G>T | CA786686227 | FAT4 | c.12213+5G>T (n.12213+5G>T) c.6984+5G>T (n.6984+5G>T) c.6996+5G>T (n.6996+5G>T) c.12207+5G>T (n.12207+5G>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125468825A>C | CA2672011537 | FAT4 | c.12213+6A>C (n.12213+6A>C) c.6984+6A>C (n.6984+6A>C) c.6996+6A>C (n.6996+6A>C) c.12207+6A>C (n.12207+6A>C) | gnomAD v4 |
4 | g.125468825A>G | CA2672011536 | FAT4 | c.12213+6A>G (n.12213+6A>G) c.6984+6A>G (n.6984+6A>G) c.6996+6A>G (n.6996+6A>G) c.12207+6A>G (n.12207+6A>G) | gnomAD v4 |
4 | g.125468827A>G | CA2672011538 | FAT4 | c.12213+8A>G (n.12213+8A>G) c.6984+8A>G (n.6984+8A>G) c.6996+8A>G (n.6996+8A>G) c.12207+8A>G (n.12207+8A>G) | ClinVar gnomAD v4 |
4 | g.125468829T>C | CA2672011539 | FAT4 | c.12213+10T>C (n.12213+10T>C) c.6984+10T>C (n.6984+10T>C) c.6996+10T>C (n.6996+10T>C) c.12207+10T>C (n.12207+10T>C) | gnomAD v4 |
4 | g.125468829T>G | CA554717009 | FAT4 | c.12213+10T>G (n.12213+10T>G) c.6984+10T>G (n.6984+10T>G) c.6996+10T>G (n.6996+10T>G) c.12207+10T>G (n.12207+10T>G) | dbSNP gnomAD v2 |
4 | g.125468829T= | CA1491662415 | FAT4 | c.12213+10T= (n.12213+10T=) c.6984+10T= (n.6984+10T=) c.6996+10T= (n.6996+10T=) c.12207+10T= (n.12207+10T=) | |
4 | g.125468830T>G | CA2763422743 | FAT4 | c.12213+11T>G (n.12213+11T>G) c.6984+11T>G (n.6984+11T>G) c.6996+11T>G (n.6996+11T>G) c.12207+11T>G (n.12207+11T>G) | |
4 | g.125468831C>A | CA2672011540 | FAT4 | c.12213+12C>A (n.12213+12C>A) c.6984+12C>A (n.6984+12C>A) c.6996+12C>A (n.6996+12C>A) c.12207+12C>A (n.12207+12C>A) | gnomAD v4 |
4 | g.125468832A= | CA1491662416 | FAT4 | c.12213+13A= (n.12213+13A=) c.6984+13A= (n.6984+13A=) c.6996+13A= (n.6996+13A=) c.12207+13A= (n.12207+13A=) | |
4 | g.125468832A>C | CA2672011541 | FAT4 | c.12213+13A>C (n.12213+13A>C) c.6984+13A>C (n.6984+13A>C) c.6996+13A>C (n.6996+13A>C) c.12207+13A>C (n.12207+13A>C) | gnomAD v4 |
4 | g.125468832A>G | CA554717011 | FAT4 | c.12213+13A>G (n.12213+13A>G) c.6984+13A>G (n.6984+13A>G) c.6996+13A>G (n.6996+13A>G) c.12207+13A>G (n.12207+13A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125468833T>C | CA3074021 | FAT4 | c.12213+14T>C (n.12213+14T>C) c.6984+14T>C (n.6984+14T>C) c.6996+14T>C (n.6996+14T>C) c.12207+14T>C (n.12207+14T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125468833T= | CA1491662417 | FAT4 | c.12213+14T= (n.12213+14T=) c.6984+14T= (n.6984+14T=) c.6996+14T= (n.6996+14T=) c.12207+14T= (n.12207+14T=) | |
4 | g.125468834T>C | CA2672011542 | FAT4 | c.12213+15T>C (n.12213+15T>C) c.6984+15T>C (n.6984+15T>C) c.6996+15T>C (n.6996+15T>C) c.12207+15T>C (n.12207+15T>C) | gnomAD v4 |
4 | g.125468836T>G | CA2672011543 | FAT4 | c.12213+17T>G (n.12213+17T>G) c.6984+17T>G (n.6984+17T>G) c.6996+17T>G (n.6996+17T>G) c.12207+17T>G (n.12207+17T>G) | gnomAD v4 |
4 | g.125468837A= | CA1491662418 | FAT4 | c.12213+18A= (n.12213+18A=) c.6984+18A= (n.6984+18A=) c.6996+18A= (n.6996+18A=) c.12207+18A= (n.12207+18A=) | |
4 | g.125468837A>G | CA3074022 | FAT4 | c.12213+18A>G (n.12213+18A>G) c.6984+18A>G (n.6984+18A>G) c.6996+18A>G (n.6996+18A>G) c.12207+18A>G (n.12207+18A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125468837A>T | CA554717017 | FAT4 | c.12213+18A>T (n.12213+18A>T) c.6984+18A>T (n.6984+18A>T) c.6996+18A>T (n.6996+18A>T) c.12207+18A>T (n.12207+18A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125468838T>C | CA3074023 | FAT4 | c.12213+19T>C (n.12213+19T>C) c.6984+19T>C (n.6984+19T>C) c.6996+19T>C (n.6996+19T>C) c.12207+19T>C (n.12207+19T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125468838T= | CA1491662419 | FAT4 | c.12213+19T= (n.12213+19T=) c.6984+19T= (n.6984+19T=) c.6996+19T= (n.6996+19T=) c.12207+19T= (n.12207+19T=) | |
4 | g.125468845_125468847del | CA2506168583 | FAT4 | c.12213+26_12213+28del (n.12213+26_12213+28del) c.6984+26_6984+28del (n.6984+26_6984+28del) c.6996+26_6996+28del (n.6996+26_6996+28del) c.12207+26_12207+28del (n.12207+26_12207+28del) | ClinVar gnomAD v4 |
4 | g.125468840G>A | CA3074024 | FAT4 | c.12213+21G>A (n.12213+21G>A) c.6984+21G>A (n.6984+21G>A) c.6996+21G>A (n.6996+21G>A) c.12207+21G>A (n.12207+21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125468840G= | CA1491662420 | FAT4 | c.12213+21G= (n.12213+21G=) c.6984+21G= (n.6984+21G=) c.6996+21G= (n.6996+21G=) c.12207+21G= (n.12207+21G=) | |
4 | g.125468840G>T | CA2763422744 | FAT4 | c.12213+21G>T (n.12213+21G>T) c.6984+21G>T (n.6984+21G>T) c.6996+21G>T (n.6996+21G>T) c.12207+21G>T (n.12207+21G>T) | |
4 | g.125468841T>C | CA554717021 | FAT4 | c.12213+22T>C (n.12213+22T>C) c.6984+22T>C (n.6984+22T>C) c.6996+22T>C (n.6996+22T>C) c.12207+22T>C (n.12207+22T>C) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125468841T= | CA1491662421 | FAT4 | c.12213+22T= (n.12213+22T=) c.6984+22T= (n.6984+22T=) c.6996+22T= (n.6996+22T=) c.12207+22T= (n.12207+22T=) | |
4 | g.125468842del | CA2604301795 | FAT4 | c.12213+23del (n.12213+23del) c.6984+23del (n.6984+23del) c.6996+23del (n.6996+23del) c.12207+23del (n.12207+23del) | gnomAD v3 gnomAD v4 |
4 | g.125468842T>C | CA554717023 | FAT4 | c.12213+23T>C (n.12213+23T>C) c.6984+23T>C (n.6984+23T>C) c.6996+23T>C (n.6996+23T>C) c.12207+23T>C (n.12207+23T>C) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125468842T= | CA1491662422 | FAT4 | c.12213+23T= (n.12213+23T=) c.6984+23T= (n.6984+23T=) c.6996+23T= (n.6996+23T=) c.12207+23T= (n.12207+23T=) | |
4 | g.125468843G>T | CA2672011544 | FAT4 | c.12213+24G>T (n.12213+24G>T) c.6984+24G>T (n.6984+24G>T) c.6996+24G>T (n.6996+24G>T) c.12207+24G>T (n.12207+24G>T) | gnomAD v4 |
4 | g.125468844T>C | CA2578191186 | FAT4 | c.12213+25T>C (n.12213+25T>C) c.6984+25T>C (n.6984+25T>C) c.6996+25T>C (n.6996+25T>C) c.12207+25T>C (n.12207+25T>C) | gnomAD v4 |
4 | g.125468846G>A | CA2672011545 | FAT4 | c.12213+27G>A (n.12213+27G>A) c.6984+27G>A (n.6984+27G>A) c.6996+27G>A (n.6996+27G>A) c.12207+27G>A (n.12207+27G>A) | gnomAD v4 |
4 | g.125468846G>T | CA2578191187 | FAT4 | c.12213+27G>T (n.12213+27G>T) c.6984+27G>T (n.6984+27G>T) c.6996+27G>T (n.6996+27G>T) c.12207+27G>T (n.12207+27G>T) | gnomAD v4 |
4 | g.125468847T>C | CA554717024 | FAT4 | c.12213+28T>C (n.12213+28T>C) c.6984+28T>C (n.6984+28T>C) c.6996+28T>C (n.6996+28T>C) c.12207+28T>C (n.12207+28T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125468847T= | CA1491662423 | FAT4 | c.12213+28T= (n.12213+28T=) c.6984+28T= (n.6984+28T=) c.6996+28T= (n.6996+28T=) c.12207+28T= (n.12207+28T=) | |
4 | g.125468848A= | CA1491662424 | FAT4 | c.12213+29A= (n.12213+29A=) c.6984+29A= (n.6984+29A=) c.6996+29A= (n.6996+29A=) c.12207+29A= (n.12207+29A=) | |
4 | g.125468848A>G | CA1067674304 | FAT4 | c.12213+29A>G (n.12213+29A>G) c.6984+29A>G (n.6984+29A>G) c.6996+29A>G (n.6996+29A>G) c.12207+29A>G (n.12207+29A>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125468849T>G | CA2672011546 | FAT4 | c.12213+30T>G (n.12213+30T>G) c.6984+30T>G (n.6984+30T>G) c.6996+30T>G (n.6996+30T>G) c.12207+30T>G (n.12207+30T>G) | gnomAD v4 |
4 | g.125468851T>A | CA649228565 | FAT4 | c.12213+32T>A (n.12213+32T>A) c.6984+32T>A (n.6984+32T>A) c.6996+32T>A (n.6996+32T>A) c.12207+32T>A (n.12207+32T>A) | COSMIC |
4 | g.125468851_125468852delinsTC | CA1491662425 | FAT4 | c.12213+32_12213+33delinsTC (n.12213+32_12213+33delinsTC) c.6984+32_6984+33delinsTC (n.6984+32_6984+33delinsTC) c.6996+32_6996+33delinsTC (n.6996+32_6996+33delinsTC) c.12207+32_12207+33delinsTC (n.12207+32_12207+33delinsTC) | |
4 | g.125468852C>A | CA2672011547 | FAT4 | c.12213+33C>A (n.12213+33C>A) c.6984+33C>A (n.6984+33C>A) c.6996+33C>A (n.6996+33C>A) c.12207+33C>A (n.12207+33C>A) | gnomAD v4 |
4 | g.125468853del | CA554717025 | FAT4 | c.12213+34del (n.12213+34del) c.6984+34del (n.6984+34del) c.6996+34del (n.6996+34del) c.12207+34del (n.12207+34del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125468853C>A | CA2672011548 | FAT4 | c.12213+34C>A (n.12213+34C>A) c.6984+34C>A (n.6984+34C>A) c.6996+34C>A (n.6996+34C>A) c.12207+34C>A (n.12207+34C>A) | gnomAD v4 |
4 | g.125468853C= | CA1491662426 | FAT4 | c.12213+34C= (n.12213+34C=) c.6984+34C= (n.6984+34C=) c.6996+34C= (n.6996+34C=) c.12207+34C= (n.12207+34C=) | |
4 | g.125468853C>G | CA3074025 | FAT4 | c.12213+34C>G (n.12213+34C>G) c.6984+34C>G (n.6984+34C>G) c.6996+34C>G (n.6996+34C>G) c.12207+34C>G (n.12207+34C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |