Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.35814720C>A | CA3774446 | LHFPL5 | c.587C>A (p.Ala196Asp) n.366C>A c.*70-4717C>A (n.*70-4717C>A) c.419C>A (p.Ala140Asp) | dbSNP ExAC gnomAD v2 |
6 | g.35814720C= | CA1621066479 | LHFPL5 | c.587C= (p.Ala196=) n.366C= c.*70-4717C= (n.*70-4717C=) c.419C= (p.Ala140=) | |
6 | g.35814720C>G | CA363786237 | LHFPL5 | c.587C>G (p.Ala196Gly) n.366C>G c.*70-4717C>G (n.*70-4717C>G) c.419C>G (p.Ala140Gly) | |
6 | g.35814720C>T | CA363786238 | LHFPL5 | c.587C>T (p.Ala196Val) n.366C>T c.*70-4717C>T (n.*70-4717C>T) c.419C>T (p.Ala140Val) | |
6 | g.35814721C>A | CA3774447 | LHFPL5 | c.588C>A (p.Ala196=) n.367C>A c.*70-4716C>A (n.*70-4716C>A) c.420C>A (p.Ala140=) | dbSNP ExAC gnomAD v4 |
6 | g.35814721C= | CA1621066480 | LHFPL5 | c.588C= (p.Ala196=) n.367C= c.*70-4716C= (n.*70-4716C=) c.420C= (p.Ala140=) | |
6 | g.35814721C>G | CA450125279 | LHFPL5 | c.588C>G (p.Ala196=) n.367C>G c.*70-4716C>G (n.*70-4716C>G) c.420C>G (p.Ala140=) | |
6 | g.35814721C>T | CA3774448 | LHFPL5 | c.588C>T (p.Ala196=) n.367C>T c.*70-4716C>T (n.*70-4716C>T) c.420C>T (p.Ala140=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814722T>A | CA363786241 | LHFPL5 | c.589T>A (p.Phe197Ile) n.368T>A c.*70-4715T>A (n.*70-4715T>A) c.421T>A (p.Phe141Ile) | |
6 | g.35814722T>C | CA363786242 | LHFPL5 | c.589T>C (p.Phe197Leu) n.368T>C c.*70-4715T>C (n.*70-4715T>C) c.421T>C (p.Phe141Leu) | |
6 | g.35814722T>G | CA363786244 | LHFPL5 | c.589T>G (p.Phe197Val) n.368T>G c.*70-4715T>G (n.*70-4715T>G) c.421T>G (p.Phe141Val) | |
6 | g.35814723T>A | CA363786246 | LHFPL5 | c.590T>A (p.Phe197Tyr) n.369T>A c.*70-4714T>A (n.*70-4714T>A) c.422T>A (p.Phe141Tyr) | |
6 | g.35814723T>C | CA363786248 | LHFPL5 | c.590T>C (p.Phe197Ser) n.369T>C c.*70-4714T>C (n.*70-4714T>C) c.422T>C (p.Phe141Ser) | |
6 | g.35814723T>G | CA363786250 | LHFPL5 | c.590T>G (p.Phe197Cys) n.369T>G c.*70-4714T>G (n.*70-4714T>G) c.422T>G (p.Phe141Cys) | |
6 | g.35814724C>A | CA363786254 | LHFPL5 | c.591C>A (p.Phe197Leu) n.370C>A c.*70-4713C>A (n.*70-4713C>A) c.423C>A (p.Phe141Leu) | |
6 | g.35814724C= | CA1621066481 | LHFPL5 | c.591C= (p.Phe197=) n.370C= c.*70-4713C= (n.*70-4713C=) c.423C= (p.Phe141=) | |
6 | g.35814724C>G | CA363786252 | LHFPL5 | c.591C>G (p.Phe197Leu) n.370C>G c.*70-4713C>G (n.*70-4713C>G) c.423C>G (p.Phe141Leu) | |
6 | g.35814724C>T | CA3774449 | LHFPL5 | c.591C>T (p.Phe197=) n.370C>T c.*70-4713C>T (n.*70-4713C>T) c.423C>T (p.Phe141=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.35814725G>A | CA3774450 | LHFPL5 | c.592G>A (p.Val198Met) n.371G>A c.*70-4712G>A (n.*70-4712G>A) c.424G>A (p.Val142Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.35814725G>C | CA363786257 | LHFPL5 | c.592G>C (p.Val198Leu) n.371G>C c.*70-4712G>C (n.*70-4712G>C) c.424G>C (p.Val142Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814725G= | CA1621066482 | LHFPL5 | c.592G= (p.Val198=) n.371G= c.*70-4712G= (n.*70-4712G=) c.424G= (p.Val142=) | |
6 | g.35814725G>T | CA363786259 | LHFPL5 | c.592G>T (p.Val198Leu) n.371G>T c.*70-4712G>T (n.*70-4712G>T) c.424G>T (p.Val142Leu) | |
6 | g.35814726T>A | CA363786261 | LHFPL5 | c.593T>A (p.Val198Glu) n.372T>A c.*70-4711T>A (n.*70-4711T>A) c.425T>A (p.Val142Glu) | |
6 | g.35814726T>C | CA363786263 | LHFPL5 | c.593T>C (p.Val198Ala) n.372T>C c.*70-4711T>C (n.*70-4711T>C) c.425T>C (p.Val142Ala) | |
6 | g.35814726T>G | CA363786264 | LHFPL5 | c.593T>G (p.Val198Gly) n.372T>G c.*70-4711T>G (n.*70-4711T>G) c.425T>G (p.Val142Gly) | |
6 | g.35814727del | CA2578626544 | LHFPL5 | c.594del (p.Leu199TrpfsTer?) n.373del c.*70-4710del (n.*70-4710del) c.426del (p.Leu143TrpfsTer?) | |
6 | g.35814727G>A | CA450125280 | LHFPL5 | c.594G>A (p.Val198=) n.373G>A c.*70-4710G>A (n.*70-4710G>A) c.426G>A (p.Val142=) | |
6 | g.35814727G>C | CA450125281 | LHFPL5 | c.594G>C (p.Val198=) n.373G>C c.*70-4710G>C (n.*70-4710G>C) c.426G>C (p.Val142=) | |
6 | g.35814727G>T | CA450125282 | LHFPL5 | c.594G>T (p.Val198=) n.373G>T c.*70-4710G>T (n.*70-4710G>T) c.426G>T (p.Val142=) | gnomAD v4 |
6 | g.35814728T>A | CA363786265 | LHFPL5 | c.595T>A (p.Leu199Met) n.374T>A c.*70-4709T>A (n.*70-4709T>A) c.427T>A (p.Leu143Met) | |
6 | g.35814728T>C | CA450125283 | LHFPL5 | c.595T>C (p.Leu199=) n.374T>C c.*70-4709T>C (n.*70-4709T>C) c.427T>C (p.Leu143=) | |
6 | g.35814728T>G | CA363786266 | LHFPL5 | c.595T>G (p.Leu199Val) n.374T>G c.*70-4709T>G (n.*70-4709T>G) c.427T>G (p.Leu143Val) | |
6 | g.35814729T>A | CA363786268 | LHFPL5 | c.596T>A (p.Leu199Ter) n.375T>A c.*70-4708T>A (n.*70-4708T>A) c.428T>A (p.Leu143Ter) | |
6 | g.35814729T>C | CA363786270 | LHFPL5 | c.596T>C (p.Leu199Ser) n.375T>C c.*70-4708T>C (n.*70-4708T>C) c.428T>C (p.Leu143Ser) | |
6 | g.35814729T>G | CA363786272 | LHFPL5 | c.596T>G (p.Leu199Trp) n.375T>G c.*70-4708T>G (n.*70-4708T>G) c.428T>G (p.Leu143Trp) | |
6 | g.35814730G>A | CA450125284 | LHFPL5 | c.597G>A (p.Leu199=) n.376G>A c.*70-4707G>A (n.*70-4707G>A) c.429G>A (p.Leu143=) | |
6 | g.35814730G>C | CA363786273 | LHFPL5 | c.597G>C (p.Leu199Phe) n.376G>C c.*70-4707G>C (n.*70-4707G>C) c.429G>C (p.Leu143Phe) | gnomAD v4 |
6 | g.35814730G>T | CA363786275 | LHFPL5 | c.597G>T (p.Leu199Phe) n.376G>T c.*70-4707G>T (n.*70-4707G>T) c.429G>T (p.Leu143Phe) | |
6 | g.35814731G>A | CA363786277 | LHFPL5 | c.598G>A (p.Gly200Ser) n.377G>A c.*70-4706G>A (n.*70-4706G>A) c.430G>A (p.Gly144Ser) | |
6 | g.35814731G>C | CA363786281 | LHFPL5 | c.598G>C (p.Gly200Arg) n.377G>C c.*70-4706G>C (n.*70-4706G>C) c.430G>C (p.Gly144Arg) | |
6 | g.35814731G>T | CA363786279 | LHFPL5 | c.598G>T (p.Gly200Cys) n.377G>T c.*70-4706G>T (n.*70-4706G>T) c.430G>T (p.Gly144Cys) | |
6 | g.35814732G>A | CA363786283 | LHFPL5 | c.599G>A (p.Gly200Asp) n.378G>A c.*70-4705G>A (n.*70-4705G>A) c.431G>A (p.Gly144Asp) | dbSNP gnomAD v4 |
6 | g.35814732G>C | CA363786285 | LHFPL5 | c.599G>C (p.Gly200Ala) n.378G>C c.*70-4705G>C (n.*70-4705G>C) c.431G>C (p.Gly144Ala) | dbSNP |
6 | g.35814732G= | CA1621066483 | LHFPL5 | c.599G= (p.Gly200=) n.378G= c.*70-4705G= (n.*70-4705G=) c.431G= (p.Gly144=) | |
6 | g.35814732G>T | CA3774451 | LHFPL5 | c.599G>T (p.Gly200Val) n.378G>T c.*70-4705G>T (n.*70-4705G>T) c.431G>T (p.Gly144Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35814733C>A | CA450125285 | LHFPL5 | c.600C>A (p.Gly200=) n.379C>A c.*70-4704C>A (n.*70-4704C>A) c.432C>A (p.Gly144=) | |
6 | g.35814733C>G | CA450125286 | LHFPL5 | c.600C>G (p.Gly200=) n.379C>G c.*70-4704C>G (n.*70-4704C>G) c.432C>G (p.Gly144=) | |
6 | g.35814733C>T | CA450125287 | LHFPL5 | c.600C>T (p.Gly200=) n.379C>T c.*70-4704C>T (n.*70-4704C>T) c.432C>T (p.Gly144=) | |
6 | g.35814734T>A | CA363786287 | LHFPL5 | c.601T>A (p.Tyr201Asn) n.380T>A c.*70-4703T>A (n.*70-4703T>A) c.433T>A (p.Tyr145Asn) | |
6 | g.35814734T>C | CA3774452 | LHFPL5 | c.601T>C (p.Tyr201His) n.380T>C c.*70-4703T>C (n.*70-4703T>C) c.433T>C (p.Tyr145His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35814734T>G | CA363786289 | LHFPL5 | c.601T>G (p.Tyr201Asp) n.380T>G c.*70-4703T>G (n.*70-4703T>G) c.433T>G (p.Tyr145Asp) | |
6 | g.35814734T= | CA1621066484 | LHFPL5 | c.601T= (p.Tyr201=) n.380T= c.*70-4703T= (n.*70-4703T=) c.433T= (p.Tyr145=) | |
6 | g.35814735A= | CA1621066485 | LHFPL5 | c.602A= (p.Tyr201=) n.381A= c.*70-4702A= (n.*70-4702A=) c.434A= (p.Tyr145=) | |
6 | g.35814735A>C | CA363786291 | LHFPL5 | c.602A>C (p.Tyr201Ser) n.381A>C c.*70-4702A>C (n.*70-4702A>C) c.434A>C (p.Tyr145Ser) | |
6 | g.35814735A>G | CA363786293 | LHFPL5 | c.602A>G (p.Tyr201Cys) n.381A>G c.*70-4702A>G (n.*70-4702A>G) c.434A>G (p.Tyr145Cys) | |
6 | g.35814735A>T | CA363786294 | LHFPL5 | c.602A>T (p.Tyr201Phe) n.381A>T c.*70-4702A>T (n.*70-4702A>T) c.434A>T (p.Tyr145Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814736C>A | CA363786296 | LHFPL5 | c.603C>A (p.Tyr201Ter) n.382C>A c.*70-4701C>A (n.*70-4701C>A) c.435C>A (p.Tyr145Ter) | |
6 | g.35814736C>G | CA363786298 | LHFPL5 | c.603C>G (p.Tyr201Ter) n.382C>G c.*70-4701C>G (n.*70-4701C>G) c.435C>G (p.Tyr145Ter) | |
6 | g.35814736C>T | CA450125288 | LHFPL5 | c.603C>T (p.Tyr201=) n.382C>T c.*70-4701C>T (n.*70-4701C>T) c.435C>T (p.Tyr145=) | gnomAD v4 |
6 | g.35814737dup | CA2678433171 | LHFPL5 | c.604dup (p.Arg202ProfsTer8) n.383dup c.*70-4700dup (n.*70-4700dup) c.436dup (p.Arg146ProfsTer8) | gnomAD v4 |
6 | g.35814737C>A | CA450125289 | LHFPL5 | c.604C>A (p.Arg202=) n.383C>A c.*70-4700C>A (n.*70-4700C>A) c.436C>A (p.Arg146=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35814737C= | CA1621066486 | LHFPL5 | c.604C= (p.Arg202=) n.383C= c.*70-4700C= (n.*70-4700C=) c.436C= (p.Arg146=) | |
6 | g.35814737C>G | CA363786300 | LHFPL5 | c.604C>G (p.Arg202Gly) n.383C>G c.*70-4700C>G (n.*70-4700C>G) c.436C>G (p.Arg146Gly) | |
6 | g.35814737C>T | CA3774453 | LHFPL5 | c.604C>T (p.Arg202Trp) n.383C>T c.*70-4700C>T (n.*70-4700C>T) c.436C>T (p.Arg146Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814738G>A | CA3774454 | LHFPL5 | c.605G>A (p.Arg202Gln) n.384G>A c.*70-4699G>A (n.*70-4699G>A) c.437G>A (p.Arg146Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814738G>C | CA137310767 | LHFPL5 | c.605G>C (p.Arg202Pro) n.384G>C c.*70-4699G>C (n.*70-4699G>C) c.437G>C (p.Arg146Pro) | dbSNP gnomAD v4 |
6 | g.35814738G= | CA1621066487 | LHFPL5 | c.605G= (p.Arg202=) n.384G= c.*70-4699G= (n.*70-4699G=) c.437G= (p.Arg146=) | |
6 | g.35814738G>T | CA363786303 | LHFPL5 | c.605G>T (p.Arg202Leu) n.384G>T c.*70-4699G>T (n.*70-4699G>T) c.437G>T (p.Arg146Leu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35814739G>A | CA450125290 | LHFPL5 | c.606G>A (p.Arg202=) n.385G>A c.*70-4698G>A (n.*70-4698G>A) c.438G>A (p.Arg146=) | |
6 | g.35814739G>C | CA450125291 | LHFPL5 | c.606G>C (p.Arg202=) n.385G>C c.*70-4698G>C (n.*70-4698G>C) c.438G>C (p.Arg146=) | |
6 | g.35814739G>T | CA450125292 | LHFPL5 | c.606G>T (p.Arg202=) n.385G>T c.*70-4698G>T (n.*70-4698G>T) c.438G>T (p.Arg146=) | |
6 | g.35814740del | CA2678433172 | LHFPL5 | c.607del (p.Gln203ArgfsTer?) n.386del c.*70-4697del (n.*70-4697del) c.439del (p.Gln147ArgfsTer27) | gnomAD v4 |
6 | g.35814740C>A | CA363786305 | LHFPL5 | c.607C>A (p.Gln203Lys) n.386C>A c.*70-4697C>A (n.*70-4697C>A) c.439C>A (p.Gln147Lys) | |
6 | g.35814740C>G | CA363786307 | LHFPL5 | c.607C>G (p.Gln203Glu) n.386C>G c.*70-4697C>G (n.*70-4697C>G) c.439C>G (p.Gln147Glu) | |
6 | g.35814740C>T | CA363786308 | LHFPL5 | c.607C>T (p.Gln203Ter) n.386C>T c.*70-4697C>T (n.*70-4697C>T) c.439C>T (p.Gln147Ter) | |
6 | g.35814741A>C | CA363786309 | LHFPL5 | c.608A>C (p.Gln203Pro) n.387A>C c.*70-4696A>C (n.*70-4696A>C) c.440A>C (p.Gln147Pro) | |
6 | g.35814741A>G | CA363786310 | LHFPL5 | c.608A>G (p.Gln203Arg) n.387A>G c.*70-4696A>G (n.*70-4696A>G) c.440A>G (p.Gln147Arg) | |
6 | g.35814741A>T | CA363786313 | LHFPL5 | c.608A>T (p.Gln203Leu) n.387A>T c.*70-4696A>T (n.*70-4696A>T) c.440A>T (p.Gln147Leu) | |
6 | g.35814742G>A | CA450125293 | LHFPL5 | c.609G>A (p.Gln203=) n.388G>A c.*70-4695G>A (n.*70-4695G>A) c.441G>A (p.Gln147=) | gnomAD v4 |
6 | g.35814742G>C | CA363786314 | LHFPL5 | c.609G>C (p.Gln203His) n.388G>C c.*70-4695G>C (n.*70-4695G>C) c.441G>C (p.Gln147His) | |
6 | g.35814742G>T | CA363786315 | LHFPL5 | c.609G>T (p.Gln203His) n.388G>T c.*70-4695G>T (n.*70-4695G>T) c.441G>T (p.Gln147His) | |
6 | g.35814743G>A | CA363786317 | LHFPL5 | c.610G>A (p.Asp204Asn) n.389G>A c.*70-4694G>A (n.*70-4694G>A) c.442G>A (p.Asp148Asn) | |
6 | g.35814743G>C | CA363786319 | LHFPL5 | c.610G>C (p.Asp204His) n.389G>C c.*70-4694G>C (n.*70-4694G>C) c.442G>C (p.Asp148His) | |
6 | g.35814743G>T | CA363786320 | LHFPL5 | c.610G>T (p.Asp204Tyr) n.389G>T c.*70-4694G>T (n.*70-4694G>T) c.442G>T (p.Asp148Tyr) | |
6 | g.35814744A= | CA1621066488 | LHFPL5 | c.611A= (p.Asp204=) n.390A= c.*70-4693A= (n.*70-4693A=) c.443A= (p.Asp148=) | |
6 | g.35814744A>C | CA363786323 | LHFPL5 | c.611A>C (p.Asp204Ala) n.390A>C c.*70-4693A>C (n.*70-4693A>C) c.443A>C (p.Asp148Ala) | |
6 | g.35814744A>G | CA3774455 | LHFPL5 | c.611A>G (p.Asp204Gly) n.390A>G c.*70-4693A>G (n.*70-4693A>G) c.443A>G (p.Asp148Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35814744A>T | CA363786322 | LHFPL5 | c.611A>T (p.Asp204Val) n.390A>T c.*70-4693A>T (n.*70-4693A>T) c.443A>T (p.Asp148Val) | |
6 | g.35814745C>A | CA363786324 | LHFPL5 | c.612C>A (p.Asp204Glu) n.391C>A c.*70-4692C>A (n.*70-4692C>A) c.444C>A (p.Asp148Glu) | gnomAD v4 |
6 | g.35814745C= | CA1621066489 | LHFPL5 | c.612C= (p.Asp204=) n.391C= c.*70-4692C= (n.*70-4692C=) c.444C= (p.Asp148=) | |
6 | g.35814745C>G | CA3774456 | LHFPL5 | c.612C>G (p.Asp204Glu) n.391C>G c.*70-4692C>G (n.*70-4692C>G) c.444C>G (p.Asp148Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35814745C>T | CA450125294 | LHFPL5 | c.612C>T (p.Asp204=) n.391C>T c.*70-4692C>T (n.*70-4692C>T) c.444C>T (p.Asp148=) | gnomAD v4 |
6 | g.35814746A= | CA1621066490 | LHFPL5 | c.613A= (p.Lys205=) n.392A= c.*70-4691A= (n.*70-4691A=) c.445A= (p.Lys149=) | |
6 | g.35814746A>C | CA363786326 | LHFPL5 | c.613A>C (p.Lys205Gln) n.392A>C c.*70-4691A>C (n.*70-4691A>C) c.445A>C (p.Lys149Gln) | |
6 | g.35814746A>G | CA137310779 | LHFPL5 | c.613A>G (p.Lys205Glu) n.392A>G c.*70-4691A>G (n.*70-4691A>G) c.445A>G (p.Lys149Glu) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.35814746A>T | CA363786328 | LHFPL5 | c.613A>T (p.Lys205Ter) n.392A>T c.*70-4691A>T (n.*70-4691A>T) c.445A>T (p.Lys149Ter) | |
6 | g.35814747A>C | CA363786330 | LHFPL5 | c.614A>C (p.Lys205Thr) n.393A>C c.*70-4690A>C (n.*70-4690A>C) c.446A>C (p.Lys149Thr) | |
6 | g.35814747A>G | CA363786332 | LHFPL5 | c.614A>G (p.Lys205Arg) n.393A>G c.*70-4690A>G (n.*70-4690A>G) c.446A>G (p.Lys149Arg) | |
6 | g.35814747A>T | CA363786334 | LHFPL5 | c.614A>T (p.Lys205Met) n.393A>T c.*70-4690A>T (n.*70-4690A>T) c.446A>T (p.Lys149Met) | |
6 | g.35814748G>A | CA3774457 | LHFPL5 | c.615G>A (p.Lys205=) n.394G>A c.*70-4689G>A (n.*70-4689G>A) c.447G>A (p.Lys149=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814748G>C | CA176574 | LHFPL5 | c.615G>C (p.Lys205Asn) n.394G>C c.*70-4689G>C (n.*70-4689G>C) c.447G>C (p.Lys149Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814748G= | CA1621066491 | LHFPL5 | c.615G= (p.Lys205=) n.394G= c.*70-4689G= (n.*70-4689G=) c.447G= (p.Lys149=) | |
6 | g.35814748G>T | CA363786335 | LHFPL5 | c.615G>T (p.Lys205Asn) n.394G>T c.*70-4689G>T (n.*70-4689G>T) c.447G>T (p.Lys149Asn) | |
6 | g.35814749C>A | CA363786340 | LHFPL5 | c.616C>A (p.Leu206Ile) n.395C>A c.*70-4688C>A (n.*70-4688C>A) c.448C>A (p.Leu150Ile) | |
6 | g.35814749C= | CA1621066492 | LHFPL5 | c.616C= (p.Leu206=) n.395C= c.*70-4688C= (n.*70-4688C=) c.448C= (p.Leu150=) | |
6 | g.35814749C>G | CA363786339 | LHFPL5 | c.616C>G (p.Leu206Val) n.395C>G c.*70-4688C>G (n.*70-4688C>G) c.448C>G (p.Leu150Val) | |
6 | g.35814749C>T | CA363786337 | LHFPL5 | c.616C>T (p.Leu206Phe) n.395C>T c.*70-4688C>T (n.*70-4688C>T) c.448C>T (p.Leu150Phe) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.35814750T>A | CA363786342 | LHFPL5 | c.617T>A (p.Leu206His) n.396T>A c.*70-4687T>A (n.*70-4687T>A) c.449T>A (p.Leu150His) | dbSNP |
6 | g.35814750T>C | CA363786344 | LHFPL5 | c.617T>C (p.Leu206Pro) n.396T>C c.*70-4687T>C (n.*70-4687T>C) c.449T>C (p.Leu150Pro) | |
6 | g.35814750T>G | CA363786345 | LHFPL5 | c.617T>G (p.Leu206Arg) n.396T>G c.*70-4687T>G (n.*70-4687T>G) c.449T>G (p.Leu150Arg) | |
6 | g.35814750_35814751delinsTC | CA1621066493 | LHFPL5 | c.617_618delinsTC (p.Leu206=) n.396_397delinsTC c.*70-4687_*70-4686delinsTC (n.*70-4687_*70-4686delinsTC) c.449_450delinsTC (p.Leu150=) | |
6 | g.35814751C>A | CA450125295 | LHFPL5 | c.618C>A (p.Leu206=) n.397C>A c.*70-4686C>A (n.*70-4686C>A) c.450C>A (p.Leu150=) | gnomAD v4 |
6 | g.35814751C= | CA1621066494 | LHFPL5 | c.618C= (p.Leu206=) n.397C= c.*70-4686C= (n.*70-4686C=) c.450C= (p.Leu150=) | |
6 | g.35814751C>G | CA450125296 | LHFPL5 | c.618C>G (p.Leu206=) n.397C>G c.*70-4686C>G (n.*70-4686C>G) c.450C>G (p.Leu150=) | |
6 | g.35814751C>T | CA3774458 | LHFPL5 | c.618C>T (p.Leu206=) n.397C>T c.*70-4686C>T (n.*70-4686C>T) c.450C>T (p.Leu150=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35814752del | CA566703527 | LHFPL5 | c.619del (p.Leu207SerfsTer?) n.398del c.*70-4685del (n.*70-4685del) c.451del (p.Leu151SerfsTer23) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35814752C>A | CA363786347 | LHFPL5 | c.619C>A (p.Leu207Ile) n.398C>A c.*70-4685C>A (n.*70-4685C>A) c.451C>A (p.Leu151Ile) | |
6 | g.35814752C= | CA1621066495 | LHFPL5 | c.619C= (p.Leu207=) n.398C= c.*70-4685C= (n.*70-4685C=) c.451C= (p.Leu151=) | |
6 | g.35814752C>G | CA363786349 | LHFPL5 | c.619C>G (p.Leu207Val) n.398C>G c.*70-4685C>G (n.*70-4685C>G) c.451C>G (p.Leu151Val) | |
6 | g.35814752C>T | CA363786352 | LHFPL5 | c.619C>T (p.Leu207Phe) n.398C>T c.*70-4685C>T (n.*70-4685C>T) c.451C>T (p.Leu151Phe) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35814753T>A | CA363786353 | LHFPL5 | c.620T>A (p.Leu207His) n.399T>A c.*70-4684T>A (n.*70-4684T>A) c.452T>A (p.Leu151His) | |
6 | g.35814753T>C | CA363786355 | LHFPL5 | c.620T>C (p.Leu207Pro) n.399T>C c.*70-4684T>C (n.*70-4684T>C) c.452T>C (p.Leu151Pro) | |
6 | g.35814753T>G | CA363786357 | LHFPL5 | c.620T>G (p.Leu207Arg) n.399T>G c.*70-4684T>G (n.*70-4684T>G) c.452T>G (p.Leu151Arg) | |
6 | g.35814754C>A | CA450125297 | LHFPL5 | c.621C>A (p.Leu207=) n.400C>A c.*70-4683C>A (n.*70-4683C>A) c.453C>A (p.Leu151=) | |
6 | g.35814754C>G | CA450125298 | LHFPL5 | c.621C>G (p.Leu207=) n.400C>G c.*70-4683C>G (n.*70-4683C>G) c.453C>G (p.Leu151=) | |
6 | g.35814754C>T | CA450125299 | LHFPL5 | c.621C>T (p.Leu207=) n.400C>T c.*70-4683C>T (n.*70-4683C>T) c.453C>T (p.Leu151=) | gnomAD v4 |
6 | g.35814755C>A | CA363786358 | LHFPL5 | c.622C>A (p.Pro208Thr) n.401C>A c.*70-4682C>A (n.*70-4682C>A) c.454C>A (p.Pro152Thr) | |
6 | g.35814755C>G | CA363786360 | LHFPL5 | c.622C>G (p.Pro208Ala) n.401C>G c.*70-4682C>G (n.*70-4682C>G) c.454C>G (p.Pro152Ala) | |
6 | g.35814755C>T | CA363786361 | LHFPL5 | c.622C>T (p.Pro208Ser) n.401C>T c.*70-4682C>T (n.*70-4682C>T) c.454C>T (p.Pro152Ser) | |
6 | g.35814756C>A | CA363786366 | LHFPL5 | c.623C>A (p.Pro208His) n.402C>A c.*70-4681C>A (n.*70-4681C>A) c.455C>A (p.Pro152His) | |
6 | g.35814756C>G | CA363786362 | LHFPL5 | c.623C>G (p.Pro208Arg) n.402C>G c.*70-4681C>G (n.*70-4681C>G) c.455C>G (p.Pro152Arg) | |
6 | g.35814756C>T | CA363786364 | LHFPL5 | c.623C>T (p.Pro208Leu) n.402C>T c.*70-4681C>T (n.*70-4681C>T) c.455C>T (p.Pro152Leu) | |
6 | g.35814756_35814757delinsCT | CA1621066496 | LHFPL5 | c.623_624delinsCT (p.Pro208=) n.402_403delinsCT c.*70-4681_*70-4680delinsCT (n.*70-4681_*70-4680delinsCT) c.455_456delinsCT (p.Pro152=) | |
6 | g.35814757del | CA1621066497 | LHFPL5 | c.624del (p.Asp209ThrfsTer?) n.403del c.*70-4680del (n.*70-4680del) c.456del (p.Asp153ThrfsTer21) | dbSNP |
6 | g.35814757T>A | CA450125300 | LHFPL5 | c.624T>A (p.Pro208=) n.403T>A c.*70-4680T>A (n.*70-4680T>A) c.456T>A (p.Pro152=) | |
6 | g.35814757T>C | CA450125301 | LHFPL5 | c.624T>C (p.Pro208=) n.403T>C c.*70-4680T>C (n.*70-4680T>C) c.456T>C (p.Pro152=) | gnomAD v4 |
6 | g.35814757T>G | CA450125302 | LHFPL5 | c.624T>G (p.Pro208=) n.403T>G c.*70-4680T>G (n.*70-4680T>G) c.456T>G (p.Pro152=) | |
6 | g.35814758G>A | CA137310790 | LHFPL5 | c.625G>A (p.Asp209Asn) n.404G>A c.*70-4679G>A (n.*70-4679G>A) c.457G>A (p.Asp153Asn) | dbSNP gnomAD v4 |
6 | g.35814758G>C | CA363786369 | LHFPL5 | c.625G>C (p.Asp209His) n.404G>C c.*70-4679G>C (n.*70-4679G>C) c.457G>C (p.Asp153His) | |
6 | g.35814758G= | CA1621066498 | LHFPL5 | c.625G= (p.Asp209=) n.404G= c.*70-4679G= (n.*70-4679G=) c.457G= (p.Asp153=) | |
6 | g.35814758G>T | CA363786371 | LHFPL5 | c.625G>T (p.Asp209Tyr) n.404G>T c.*70-4679G>T (n.*70-4679G>T) c.457G>T (p.Asp153Tyr) | |
6 | g.35814761_35814763del | CA2578626545 | LHFPL5 | c.628_630del (p.Asp210del) n.407_409del c.*70-4676_*70-4674del (n.*70-4676_*70-4674del) c.460_462del (p.Asp154del) | gnomAD v4 |
6 | g.35814759A>C | CA363786373 | LHFPL5 | c.626A>C (p.Asp209Ala) n.405A>C c.*70-4678A>C (n.*70-4678A>C) c.458A>C (p.Asp153Ala) | |
6 | g.35814759A>G | CA363786374 | LHFPL5 | c.626A>G (p.Asp209Gly) n.405A>G c.*70-4678A>G (n.*70-4678A>G) c.458A>G (p.Asp153Gly) | |
6 | g.35814759A>T | CA363786376 | LHFPL5 | c.626A>T (p.Asp209Val) n.405A>T c.*70-4678A>T (n.*70-4678A>T) c.458A>T (p.Asp153Val) | |
6 | g.35814760C>A | CA363786378 | LHFPL5 | c.627C>A (p.Asp209Glu) n.406C>A c.*70-4677C>A (n.*70-4677C>A) c.459C>A (p.Asp153Glu) | |
6 | g.35814760C= | CA1621066499 | LHFPL5 | c.627C= (p.Asp209=) n.406C= c.*70-4677C= (n.*70-4677C=) c.459C= (p.Asp153=) | |
6 | g.35814760C>G | CA363786380 | LHFPL5 | c.627C>G (p.Asp209Glu) n.406C>G c.*70-4677C>G (n.*70-4677C>G) c.459C>G (p.Asp153Glu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35814760C>T | CA3774459 | LHFPL5 | c.627C>T (p.Asp209=) n.406C>T c.*70-4677C>T (n.*70-4677C>T) c.459C>T (p.Asp153=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814761G>A | CA3774460 | LHFPL5 | c.628G>A (p.Asp210Asn) n.407G>A c.*70-4676G>A (n.*70-4676G>A) c.460G>A (p.Asp154Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814761G>C | CA363786384 | LHFPL5 | c.628G>C (p.Asp210His) n.407G>C c.*70-4676G>C (n.*70-4676G>C) c.460G>C (p.Asp154His) | |
6 | g.35814761G= | CA1621066500 | LHFPL5 | c.628G= (p.Asp210=) n.407G= c.*70-4676G= (n.*70-4676G=) c.460G= (p.Asp154=) | |
6 | g.35814761G>T | CA363786386 | LHFPL5 | c.628G>T (p.Asp210Tyr) n.407G>T c.*70-4676G>T (n.*70-4676G>T) c.460G>T (p.Asp154Tyr) | |
6 | g.35814762A>C | CA363786389 | LHFPL5 | c.629A>C (p.Asp210Ala) n.408A>C c.*70-4675A>C (n.*70-4675A>C) c.461A>C (p.Asp154Ala) | |
6 | g.35814762A>G | CA363786391 | LHFPL5 | c.629A>G (p.Asp210Gly) n.408A>G c.*70-4675A>G (n.*70-4675A>G) c.461A>G (p.Asp154Gly) | |
6 | g.35814762A>T | CA363786388 | LHFPL5 | c.629A>T (p.Asp210Val) n.408A>T c.*70-4675A>T (n.*70-4675A>T) c.461A>T (p.Asp154Val) | |
6 | g.35814763C>A | CA363786394 | LHFPL5 | c.630C>A (p.Asp210Glu) n.409C>A c.*70-4674C>A (n.*70-4674C>A) c.462C>A (p.Asp154Glu) | COSMIC |
6 | g.35814763C>G | CA363786393 | LHFPL5 | c.630C>G (p.Asp210Glu) n.409C>G c.*70-4674C>G (n.*70-4674C>G) c.462C>G (p.Asp154Glu) | |
6 | g.35814763C>T | CA450125303 | LHFPL5 | c.630C>T (p.Asp210=) n.409C>T c.*70-4674C>T (n.*70-4674C>T) c.462C>T (p.Asp154=) | |
6 | g.35814764T>A | CA3774461 | LHFPL5 | c.631T>A (p.Tyr211Asn) n.410T>A c.*70-4673T>A (n.*70-4673T>A) c.463T>A (p.Tyr155Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35814764T>C | CA363786396 | LHFPL5 | c.631T>C (p.Tyr211His) n.410T>C c.*70-4673T>C (n.*70-4673T>C) c.463T>C (p.Tyr155His) | |
6 | g.35814764T>G | CA363786399 | LHFPL5 | c.631T>G (p.Tyr211Asp) n.410T>G c.*70-4673T>G (n.*70-4673T>G) c.463T>G (p.Tyr155Asp) | |
6 | g.35814764T= | CA1621066501 | LHFPL5 | c.631T= (p.Tyr211=) n.410T= c.*70-4673T= (n.*70-4673T=) c.463T= (p.Tyr155=) | |
6 | g.35814765A>C | CA363786401 | LHFPL5 | c.632A>C (p.Tyr211Ser) n.411A>C c.*70-4672A>C (n.*70-4672A>C) c.464A>C (p.Tyr155Ser) | |
6 | g.35814765A>G | CA363786403 | LHFPL5 | c.632A>G (p.Tyr211Cys) n.411A>G c.*70-4672A>G (n.*70-4672A>G) c.464A>G (p.Tyr155Cys) | gnomAD v4 |
6 | g.35814765A>T | CA363786405 | LHFPL5 | c.632A>T (p.Tyr211Phe) n.411A>T c.*70-4672A>T (n.*70-4672A>T) c.464A>T (p.Tyr155Phe) | |
6 | g.35814766C>A | CA363786407 | LHFPL5 | c.633C>A (p.Tyr211Ter) n.412C>A c.*70-4671C>A (n.*70-4671C>A) c.465C>A (p.Tyr155Ter) | |
6 | g.35814766C>G | CA363786408 | LHFPL5 | c.633C>G (p.Tyr211Ter) n.412C>G c.*70-4671C>G (n.*70-4671C>G) c.465C>G (p.Tyr155Ter) | |
6 | g.35814766C>T | CA450125304 | LHFPL5 | c.633C>T (p.Tyr211=) n.412C>T c.*70-4671C>T (n.*70-4671C>T) c.465C>T (p.Tyr155=) | |
6 | g.35814767A= | CA1621066502 | LHFPL5 | c.634A= (p.Lys212=) n.413A= c.*70-4670A= (n.*70-4670A=) c.466A= (p.Lys156=) | |
6 | g.35814767A>C | CA3774462 | LHFPL5 | c.634A>C (p.Lys212Gln) n.413A>C c.*70-4670A>C (n.*70-4670A>C) c.466A>C (p.Lys156Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35814767A>G | CA3774463 | LHFPL5 | c.634A>G (p.Lys212Glu) n.413A>G c.*70-4670A>G (n.*70-4670A>G) c.466A>G (p.Lys156Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35814767A>T | CA363786411 | LHFPL5 | c.634A>T (p.Lys212Ter) n.413A>T c.*70-4670A>T (n.*70-4670A>T) c.466A>T (p.Lys156Ter) | |
6 | g.35814768A>C | CA363786413 | LHFPL5 | c.635A>C (p.Lys212Thr) n.414A>C c.*70-4669A>C (n.*70-4669A>C) c.467A>C (p.Lys156Thr) | |
6 | g.35814768A>G | CA363786414 | LHFPL5 | c.635A>G (p.Lys212Arg) n.414A>G c.*70-4669A>G (n.*70-4669A>G) c.467A>G (p.Lys156Arg) | |
6 | g.35814768A>T | CA363786416 | LHFPL5 | c.635A>T (p.Lys212Met) n.414A>T c.*70-4669A>T (n.*70-4669A>T) c.467A>T (p.Lys156Met) | |
6 | g.35814769G>A | CA450125305 | LHFPL5 | c.636G>A (p.Lys212=) n.415G>A c.*70-4668G>A (n.*70-4668G>A) c.468G>A (p.Lys156=) | |
6 | g.35814769G>C | CA363786419 | LHFPL5 | c.636G>C (p.Lys212Asn) n.415G>C c.*70-4668G>C (n.*70-4668G>C) c.468G>C (p.Lys156Asn) | |
6 | g.35814769G>T | CA363786420 | LHFPL5 | c.636G>T (p.Lys212Asn) n.415G>T c.*70-4668G>T (n.*70-4668G>T) c.468G>T (p.Lys156Asn) | |
6 | g.35814770G>A | CA363786426 | LHFPL5 | c.637G>A (p.Ala213Thr) n.416G>A c.*70-4667G>A (n.*70-4667G>A) c.469G>A (p.Ala157Thr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35814770G>C | CA363786422 | LHFPL5 | c.637G>C (p.Ala213Pro) n.416G>C c.*70-4667G>C (n.*70-4667G>C) c.469G>C (p.Ala157Pro) | |
6 | g.35814770G= | CA1621066503 | LHFPL5 | c.637G= (p.Ala213=) n.416G= c.*70-4667G= (n.*70-4667G=) c.469G= (p.Ala157=) | |
6 | g.35814770G>T | CA363786424 | LHFPL5 | c.637G>T (p.Ala213Ser) n.416G>T c.*70-4667G>T (n.*70-4667G>T) c.469G>T (p.Ala157Ser) | |
6 | g.35814771C>A | CA176576 | LHFPL5 | c.638C>A (p.Ala213Glu) n.417C>A c.*70-4666C>A (n.*70-4666C>A) c.470C>A (p.Ala157Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814771C= | CA1621066504 | LHFPL5 | c.638C= (p.Ala213=) n.417C= c.*70-4666C= (n.*70-4666C=) c.470C= (p.Ala157=) | |
6 | g.35814771C>G | CA363786429 | LHFPL5 | c.638C>G (p.Ala213Gly) n.417C>G c.*70-4666C>G (n.*70-4666C>G) c.470C>G (p.Ala157Gly) | |
6 | g.35814771C>T | CA363786431 | LHFPL5 | c.638C>T (p.Ala213Val) n.417C>T c.*70-4666C>T (n.*70-4666C>T) c.470C>T (p.Ala157Val) | gnomAD v4 |
6 | g.35814772A>C | CA450125306 | LHFPL5 | c.639A>C (p.Ala213=) n.418A>C c.*70-4665A>C (n.*70-4665A>C) c.471A>C (p.Ala157=) | gnomAD v4 |
6 | g.35814772A>G | CA450125307 | LHFPL5 | c.639A>G (p.Ala213=) n.418A>G c.*70-4665A>G (n.*70-4665A>G) c.471A>G (p.Ala157=) | |
6 | g.35814772A>T | CA450125308 | LHFPL5 | c.639A>T (p.Ala213=) n.418A>T c.*70-4665A>T (n.*70-4665A>T) c.471A>T (p.Ala157=) | |
6 | g.35814773G>A | CA3774464 | LHFPL5 | c.640G>A (p.Asp214Asn) n.419G>A c.*70-4664G>A (n.*70-4664G>A) c.472G>A (p.Asp158Asn) | dbSNP ExAC gnomAD v2 |
6 | g.35814773G>C | CA363786434 | LHFPL5 | c.640G>C (p.Asp214His) n.419G>C c.*70-4664G>C (n.*70-4664G>C) c.472G>C (p.Asp158His) | |
6 | g.35814773G= | CA1621066505 | LHFPL5 | c.640G= (p.Asp214=) n.419G= c.*70-4664G= (n.*70-4664G=) c.472G= (p.Asp158=) | |
6 | g.35814773G>T | CA363786436 | LHFPL5 | c.640G>T (p.Asp214Tyr) n.419G>T c.*70-4664G>T (n.*70-4664G>T) c.472G>T (p.Asp158Tyr) | |
6 | g.35814774A>C | CA363786439 | LHFPL5 | c.641A>C (p.Asp214Ala) n.420A>C c.*70-4663A>C (n.*70-4663A>C) c.473A>C (p.Asp158Ala) | |
6 | g.35814774A>G | CA363786440 | LHFPL5 | c.641A>G (p.Asp214Gly) n.420A>G c.*70-4663A>G (n.*70-4663A>G) c.473A>G (p.Asp158Gly) | gnomAD v4 |
6 | g.35814774A>T | CA363786442 | LHFPL5 | c.641A>T (p.Asp214Val) n.420A>T c.*70-4663A>T (n.*70-4663A>T) c.473A>T (p.Asp158Val) | |
6 | g.35814775T>A | CA363786443 | LHFPL5 | c.642T>A (p.Asp214Glu) n.421T>A c.*70-4662T>A (n.*70-4662T>A) c.474T>A (p.Asp158Glu) | gnomAD v4 |
6 | g.35814775T>C | CA450125309 | LHFPL5 | c.642T>C (p.Asp214=) n.421T>C c.*70-4662T>C (n.*70-4662T>C) c.474T>C (p.Asp158=) | |
6 | g.35814775T>G | CA363786444 | LHFPL5 | c.642T>G (p.Asp214Glu) n.421T>G c.*70-4662T>G (n.*70-4662T>G) c.474T>G (p.Asp158Glu) | |
6 | g.35814776G>A | CA363786450 | LHFPL5 | c.643G>A (p.Gly215Arg) n.422G>A c.*70-4661G>A (n.*70-4661G>A) c.475G>A (p.Gly159Arg) | |
6 | g.35814776G>C | CA363786448 | LHFPL5 | c.643G>C (p.Gly215Arg) n.422G>C c.*70-4661G>C (n.*70-4661G>C) c.475G>C (p.Gly159Arg) | |
6 | g.35814776G>T | CA363786446 | LHFPL5 | c.643G>T (p.Gly215Ter) n.422G>T c.*70-4661G>T (n.*70-4661G>T) c.475G>T (p.Gly159Ter) | |
6 | g.35814777G>A | CA363786452 | LHFPL5 | c.644G>A (p.Gly215Glu) n.423G>A c.*70-4660G>A (n.*70-4660G>A) c.476G>A (p.Gly159Glu) | dbSNP |
6 | g.35814777G>C | CA363786454 | LHFPL5 | c.644G>C (p.Gly215Ala) n.423G>C c.*70-4660G>C (n.*70-4660G>C) c.476G>C (p.Gly159Ala) | |
6 | g.35814777G= | CA1621066506 | LHFPL5 | c.644G= (p.Gly215=) n.423G= c.*70-4660G= (n.*70-4660G=) c.476G= (p.Gly159=) | |
6 | g.35814777G>T | CA363786455 | LHFPL5 | c.644G>T (p.Gly215Val) n.423G>T c.*70-4660G>T (n.*70-4660G>T) c.476G>T (p.Gly159Val) | |
6 | g.35814778A>C | CA450125310 | LHFPL5 | c.645A>C (p.Gly215=) n.424A>C c.*70-4659A>C (n.*70-4659A>C) c.477A>C (p.Gly159=) | |
6 | g.35814778A>G | CA450125311 | LHFPL5 | c.645A>G (p.Gly215=) n.424A>G c.*70-4659A>G (n.*70-4659A>G) c.477A>G (p.Gly159=) | |
6 | g.35814778A>T | CA450125312 | LHFPL5 | c.645A>T (p.Gly215=) n.424A>T c.*70-4659A>T (n.*70-4659A>T) c.477A>T (p.Gly159=) | |
6 | g.35814779A>C | CA363786457 | LHFPL5 | c.646A>C (p.Thr216Pro) n.425A>C c.*70-4658A>C (n.*70-4658A>C) c.478A>C (p.Thr160Pro) | |
6 | g.35814779A>G | CA363786459 | LHFPL5 | c.646A>G (p.Thr216Ala) n.425A>G c.*70-4658A>G (n.*70-4658A>G) c.478A>G (p.Thr160Ala) | |
6 | g.35814779A>T | CA363786461 | LHFPL5 | c.646A>T (p.Thr216Ser) n.425A>T c.*70-4658A>T (n.*70-4658A>T) c.478A>T (p.Thr160Ser) | |
6 | g.35814780C>A | CA363786467 | LHFPL5 | c.647C>A (p.Thr216Asn) n.426C>A c.*70-4657C>A (n.*70-4657C>A) c.479C>A (p.Thr160Asn) | |
6 | g.35814780C>G | CA363786463 | LHFPL5 | c.647C>G (p.Thr216Ser) n.426C>G c.*70-4657C>G (n.*70-4657C>G) c.479C>G (p.Thr160Ser) | |
6 | g.35814780C>T | CA363786465 | LHFPL5 | c.647C>T (p.Thr216Ile) n.426C>T c.*70-4657C>T (n.*70-4657C>T) c.479C>T (p.Thr160Ile) | |
6 | g.35814781C>A | CA137310808 | LHFPL5 | c.648C>A (p.Thr216=) n.427C>A c.*70-4656C>A (n.*70-4656C>A) c.480C>A (p.Thr160=) | gnomAD v4 |
6 | g.35814781C= | CA1621066507 | LHFPL5 | c.648C= (p.Thr216=) n.427C= c.*70-4656C= (n.*70-4656C=) c.480C= (p.Thr160=) | |
6 | g.35814781C>G | CA450125313 | LHFPL5 | c.648C>G (p.Thr216=) n.427C>G c.*70-4656C>G (n.*70-4656C>G) c.480C>G (p.Thr160=) | |
6 | g.35814781C>T | CA3774465 | LHFPL5 | c.648C>T (p.Thr216=) n.427C>T c.*70-4656C>T (n.*70-4656C>T) c.480C>T (p.Thr160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814781_35814782delinsCG | CA1621066508 | LHFPL5 | c.648_649delinsCG (p.Thr216=) n.427_428delinsCG c.*70-4656_*70-4655delinsCG (n.*70-4656_*70-4655delinsCG) c.480_481delinsCG (p.Thr160=) | |
6 | g.35814782G>A | CA363786472 | LHFPL5 | c.649G>A (p.Glu217Lys) n.428G>A c.*70-4655G>A (n.*70-4655G>A) c.481G>A (p.Glu161Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814782G>C | CA363786473 | LHFPL5 | c.649G>C (p.Glu217Gln) n.428G>C c.*70-4655G>C (n.*70-4655G>C) c.481G>C (p.Glu161Gln) | dbSNP gnomAD v4 |
6 | g.35814782G= | CA1621066509 | LHFPL5 | c.649G= (p.Glu217=) n.428G= c.*70-4655G= (n.*70-4655G=) c.481G= (p.Glu161=) | |
6 | g.35814782G>T | CA363786475 | LHFPL5 | c.649G>T (p.Glu217Ter) n.428G>T c.*70-4655G>T (n.*70-4655G>T) c.481G>T (p.Glu161Ter) | |
6 | g.35814783del | CA915944241 | LHFPL5 | c.649+1del n.428+1del c.*70-4654del (n.*70-4654del) c.481+1del | ClinVar dbSNP |
6 | g.35814783G>A | CA363786476 | LHFPL5 | c.649+1G>A (n.649+1G>A) n.428+1G>A c.*70-4654G>A (n.*70-4654G>A) c.481+1G>A (n.481+1G>A) | |
6 | g.35814783G>C | CA363786480 | LHFPL5 | c.649+1G>C (n.649+1G>C) n.428+1G>C c.*70-4654G>C (n.*70-4654G>C) c.481+1G>C (n.481+1G>C) | |
6 | g.35814783G= | CA1621066510 | LHFPL5 | c.649+1G= (n.649+1G=) n.428+1G= c.*70-4654G= (n.*70-4654G=) c.481+1G= (n.481+1G=) | |
6 | g.35814783G>T | CA363786478 | LHFPL5 | c.649+1G>T (n.649+1G>T) n.428+1G>T c.*70-4654G>T (n.*70-4654G>T) c.481+1G>T (n.481+1G>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35814784T>A | CA363786482 | LHFPL5 | c.649+2T>A (n.649+2T>A) n.428+2T>A c.*70-4653T>A (n.*70-4653T>A) c.481+2T>A (n.481+2T>A) | |
6 | g.35814784T>C | CA363786483 | LHFPL5 | c.649+2T>C (n.649+2T>C) n.428+2T>C c.*70-4653T>C (n.*70-4653T>C) c.481+2T>C (n.481+2T>C) | |
6 | g.35814784T>G | CA363786485 | LHFPL5 | c.649+2T>G (n.649+2T>G) n.428+2T>G c.*70-4653T>G (n.*70-4653T>G) c.481+2T>G (n.481+2T>G) | |
6 | g.35814788C>A | CA2573140334 | LHFPL5 | c.649+6C>A (n.649+6C>A) n.428+6C>A c.*70-4649C>A (n.*70-4649C>A) c.481+6C>A (n.481+6C>A) | ClinVar dbSNP |
6 | g.35814788C>T | CA2770639324 | LHFPL5 | c.649+6C>T (n.649+6C>T) n.428+6C>T c.*70-4649C>T (n.*70-4649C>T) c.481+6C>T (n.481+6C>T) | |
6 | g.35814790C>T | CA2678433173 | LHFPL5 | c.649+8C>T (n.649+8C>T) n.428+8C>T c.*70-4647C>T (n.*70-4647C>T) c.481+8C>T (n.481+8C>T) | gnomAD v4 |
6 | g.35814791C>A | CA2678433174 | LHFPL5 | c.649+9C>A (n.649+9C>A) n.428+9C>A c.*70-4646C>A (n.*70-4646C>A) c.481+9C>A (n.481+9C>A) | gnomAD v4 |
6 | g.35814791C= | CA1621066511 | LHFPL5 | c.649+9C= (n.649+9C=) n.428+9C= c.*70-4646C= (n.*70-4646C=) c.481+9C= (n.481+9C=) | |
6 | g.35814791C>T | CA3774466 | LHFPL5 | c.649+9C>T (n.649+9C>T) n.428+9C>T c.*70-4646C>T (n.*70-4646C>T) c.481+9C>T (n.481+9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35814792C>G | CA2678433175 | LHFPL5 | c.649+10C>G (n.649+10C>G) n.428+10C>G c.*70-4645C>G (n.*70-4645C>G) c.481+10C>G (n.481+10C>G) | gnomAD v4 |
6 | g.35814794A= | CA1621066512 | LHFPL5 | c.649+12A= (n.649+12A=) n.428+12A= c.*70-4643A= (n.*70-4643A=) c.481+12A= (n.481+12A=) | |
6 | g.35814794A>C | CA566703528 | LHFPL5 | c.649+12A>C (n.649+12A>C) n.428+12A>C c.*70-4643A>C (n.*70-4643A>C) c.481+12A>C (n.481+12A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814794A>G | CA2711152441 | LHFPL5 | c.649+12A>G (n.649+12A>G) n.428+12A>G c.*70-4643A>G (n.*70-4643A>G) c.481+12A>G (n.481+12A>G) | dbSNP |
6 | g.35814795C= | CA1621066513 | LHFPL5 | c.649+13C= (n.649+13C=) n.428+13C= c.*70-4642C= (n.*70-4642C=) c.481+13C= (n.481+13C=) | |
6 | g.35814795C>T | CA3774467 | LHFPL5 | c.649+13C>T (n.649+13C>T) n.428+13C>T c.*70-4642C>T (n.*70-4642C>T) c.481+13C>T (n.481+13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35814798C= | CA1621066514 | LHFPL5 | c.649+16C= (n.649+16C=) n.428+16C= c.*70-4639C= (n.*70-4639C=) c.481+16C= (n.481+16C=) | |
6 | g.35814798C>T | CA566703529 | LHFPL5 | c.649+16C>T (n.649+16C>T) n.428+16C>T c.*70-4639C>T (n.*70-4639C>T) c.481+16C>T (n.481+16C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35814799A= | CA1621066515 | LHFPL5 | c.649+17A= (n.649+17A=) n.428+17A= c.*70-4638A= (n.*70-4638A=) c.481+17A= (n.481+17A=) | |
6 | g.35814799A>G | CA3774468 | LHFPL5 | c.649+17A>G (n.649+17A>G) n.428+17A>G c.*70-4638A>G (n.*70-4638A>G) c.481+17A>G (n.481+17A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814800C>A | CA2578626549 | LHFPL5 | c.649+18C>A (n.649+18C>A) n.428+18C>A c.*70-4637C>A (n.*70-4637C>A) c.481+18C>A (n.481+18C>A) | |
6 | g.35814800C= | CA1621066516 | LHFPL5 | c.649+18C= (n.649+18C=) n.428+18C= c.*70-4637C= (n.*70-4637C=) c.481+18C= (n.481+18C=) | |
6 | g.35814800C>T | CA566703530 | LHFPL5 | c.649+18C>T (n.649+18C>T) n.428+18C>T c.*70-4637C>T (n.*70-4637C>T) c.481+18C>T (n.481+18C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35814803T>A | CA2770639325 | LHFPL5 | c.649+21T>A (n.649+21T>A) n.428+21T>A c.*70-4634T>A (n.*70-4634T>A) c.481+21T>A (n.481+21T>A) | |
6 | g.35814808_35814814del | CA2770639326 | LHFPL5 | c.649+26_649+32del (n.649+26_649+32del) n.428+26_428+32del c.*70-4629_*70-4623del (n.*70-4629_*70-4623del) c.481+26_481+32del (n.481+26_481+32del) | |
6 | g.35814807G>A | CA2578626551 | LHFPL5 | c.649+25G>A (n.649+25G>A) n.428+25G>A c.*70-4630G>A (n.*70-4630G>A) c.481+25G>A (n.481+25G>A) | gnomAD v4 |
6 | g.35814809C= | CA1621066517 | LHFPL5 | c.649+27C= (n.649+27C=) n.428+27C= c.*70-4628C= (n.*70-4628C=) c.481+27C= (n.481+27C=) | |
6 | g.35814809C>T | CA566703531 | LHFPL5 | c.649+27C>T (n.649+27C>T) n.428+27C>T c.*70-4628C>T (n.*70-4628C>T) c.481+27C>T (n.481+27C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35814812dup | CA2678433176 | LHFPL5 | c.649+30dup (n.649+30dup) n.428+30dup c.*70-4625dup (n.*70-4625dup) c.481+30dup (n.481+30dup) | gnomAD v4 |
6 | g.35814815_35814827del | CA2678433177 | LHFPL5 | c.649+33_649+45del (n.649+33_649+45del) n.428+33_428+45del c.*70-4622_*70-4610del (n.*70-4622_*70-4610del) c.481+33_481+45del (n.481+33_481+45del) | gnomAD v4 |
6 | g.35814811C= | CA1621066518 | LHFPL5 | c.649+29C= (n.649+29C=) n.428+29C= c.*70-4626C= (n.*70-4626C=) c.481+29C= (n.481+29C=) | |
6 | g.35814811C>T | CA566703532 | LHFPL5 | c.649+29C>T (n.649+29C>T) n.428+29C>T c.*70-4626C>T (n.*70-4626C>T) c.481+29C>T (n.481+29C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814813T>C | CA2678433178 | LHFPL5 | c.649+31T>C (n.649+31T>C) n.428+31T>C c.*70-4624T>C (n.*70-4624T>C) c.481+31T>C (n.481+31T>C) | gnomAD v4 |
6 | g.35814814G>A | CA2770639327 | LHFPL5 | c.649+32G>A (n.649+32G>A) n.428+32G>A c.*70-4623G>A (n.*70-4623G>A) c.481+32G>A (n.481+32G>A) | |
6 | g.35814815C>A | CA2678433179 | LHFPL5 | c.649+33C>A (n.649+33C>A) n.428+33C>A c.*70-4622C>A (n.*70-4622C>A) c.481+33C>A (n.481+33C>A) | gnomAD v4 |
6 | g.35814815C>T | CA2678433180 | LHFPL5 | c.649+33C>T (n.649+33C>T) n.428+33C>T c.*70-4622C>T (n.*70-4622C>T) c.481+33C>T (n.481+33C>T) | gnomAD v4 |
6 | g.35814819G>C | CA1621066520 | LHFPL5 | c.649+37G>C (n.649+37G>C) n.428+37G>C c.*70-4618G>C (n.*70-4618G>C) c.481+37G>C (n.481+37G>C) | dbSNP |
6 | g.35814819G= | CA1621066519 | LHFPL5 | c.649+37G= (n.649+37G=) n.428+37G= c.*70-4618G= (n.*70-4618G=) c.481+37G= (n.481+37G=) |