Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.35814638A>C | CA363785931 | LHFPL5 | c.505A>C (p.Thr169Pro) n.284A>C c.*70-4799A>C (n.*70-4799A>C) c.337A>C (p.Thr113Pro) | |
6 | g.35814638A>G | CA363785932 | LHFPL5 | c.505A>G (p.Thr169Ala) n.284A>G c.*70-4799A>G (n.*70-4799A>G) c.337A>G (p.Thr113Ala) | |
6 | g.35814638A>T | CA363785934 | LHFPL5 | c.505A>T (p.Thr169Ser) n.284A>T c.*70-4799A>T (n.*70-4799A>T) c.337A>T (p.Thr113Ser) | |
6 | g.35814639C>A | CA363785938 | LHFPL5 | c.506C>A (p.Thr169Lys) n.285C>A c.*70-4798C>A (n.*70-4798C>A) c.338C>A (p.Thr113Lys) | |
6 | g.35814639C= | CA1621066439 | LHFPL5 | c.506C= (p.Thr169=) n.285C= c.*70-4798C= (n.*70-4798C=) c.338C= (p.Thr113=) | |
6 | g.35814639C>G | CA363785936 | LHFPL5 | c.506C>G (p.Thr169Arg) n.285C>G c.*70-4798C>G (n.*70-4798C>G) c.338C>G (p.Thr113Arg) | |
6 | g.35814639C>T | CA3774429 | LHFPL5 | c.506C>T (p.Thr169Met) n.285C>T c.*70-4798C>T (n.*70-4798C>T) c.338C>T (p.Thr113Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814640G>A | CA3774430 | LHFPL5 | c.507G>A (p.Thr169=) n.286G>A c.*70-4797G>A (n.*70-4797G>A) c.339G>A (p.Thr113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814640G>C | CA450125227 | LHFPL5 | c.507G>C (p.Thr169=) n.286G>C c.*70-4797G>C (n.*70-4797G>C) c.339G>C (p.Thr113=) | |
6 | g.35814640G= | CA1621066440 | LHFPL5 | c.507G= (p.Thr169=) n.286G= c.*70-4797G= (n.*70-4797G=) c.339G= (p.Thr113=) | |
6 | g.35814640G>T | CA450125226 | LHFPL5 | c.507G>T (p.Thr169=) n.286G>T c.*70-4797G>T (n.*70-4797G>T) c.339G>T (p.Thr113=) | |
6 | g.35814641C>A | CA363785940 | LHFPL5 | c.508C>A (p.Leu170Met) n.287C>A c.*70-4796C>A (n.*70-4796C>A) c.340C>A (p.Leu114Met) | |
6 | g.35814641C>G | CA363785942 | LHFPL5 | c.508C>G (p.Leu170Val) n.287C>G c.*70-4796C>G (n.*70-4796C>G) c.340C>G (p.Leu114Val) | |
6 | g.35814641C>T | CA450125228 | LHFPL5 | c.508C>T (p.Leu170=) n.287C>T c.*70-4796C>T (n.*70-4796C>T) c.340C>T (p.Leu114=) | |
6 | g.35814642T>A | CA3774431 | LHFPL5 | c.509T>A (p.Leu170Gln) n.288T>A c.*70-4795T>A (n.*70-4795T>A) c.341T>A (p.Leu114Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814642T>C | CA363785945 | LHFPL5 | c.509T>C (p.Leu170Pro) n.288T>C c.*70-4795T>C (n.*70-4795T>C) c.341T>C (p.Leu114Pro) | |
6 | g.35814642T>G | CA363785947 | LHFPL5 | c.509T>G (p.Leu170Arg) n.288T>G c.*70-4795T>G (n.*70-4795T>G) c.341T>G (p.Leu114Arg) | |
6 | g.35814642T= | CA1621066441 | LHFPL5 | c.509T= (p.Leu170=) n.288T= c.*70-4795T= (n.*70-4795T=) c.341T= (p.Leu114=) | |
6 | g.35814643G>A | CA450125229 | LHFPL5 | c.510G>A (p.Leu170=) n.289G>A c.*70-4794G>A (n.*70-4794G>A) c.342G>A (p.Leu114=) | |
6 | g.35814643G>C | CA450125230 | LHFPL5 | c.510G>C (p.Leu170=) n.289G>C c.*70-4794G>C (n.*70-4794G>C) c.342G>C (p.Leu114=) | |
6 | g.35814643G>T | CA450125231 | LHFPL5 | c.510G>T (p.Leu170=) n.289G>T c.*70-4794G>T (n.*70-4794G>T) c.342G>T (p.Leu114=) | |
6 | g.35814644G>A | CA363785948 | LHFPL5 | c.511G>A (p.Gly171Ser) n.290G>A c.*70-4793G>A (n.*70-4793G>A) c.343G>A (p.Gly115Ser) | ClinVar dbSNP gnomAD v4 |
6 | g.35814644G>C | CA363785950 | LHFPL5 | c.511G>C (p.Gly171Arg) n.290G>C c.*70-4793G>C (n.*70-4793G>C) c.343G>C (p.Gly115Arg) | |
6 | g.35814644G>T | CA363785952 | LHFPL5 | c.511G>T (p.Gly171Cys) n.290G>T c.*70-4793G>T (n.*70-4793G>T) c.343G>T (p.Gly115Cys) | |
6 | g.35814645G>A | CA363785954 | LHFPL5 | c.512G>A (p.Gly171Asp) n.291G>A c.*70-4792G>A (n.*70-4792G>A) c.344G>A (p.Gly115Asp) | |
6 | g.35814645G>C | CA363785955 | LHFPL5 | c.512G>C (p.Gly171Ala) n.291G>C c.*70-4792G>C (n.*70-4792G>C) c.344G>C (p.Gly115Ala) | |
6 | g.35814645G>T | CA363785957 | LHFPL5 | c.512G>T (p.Gly171Val) n.291G>T c.*70-4792G>T (n.*70-4792G>T) c.344G>T (p.Gly115Val) | |
6 | g.35814646C>A | CA450125232 | LHFPL5 | c.513C>A (p.Gly171=) n.292C>A c.*70-4791C>A (n.*70-4791C>A) c.345C>A (p.Gly115=) | gnomAD v4 |
6 | g.35814646C>G | CA450125234 | LHFPL5 | c.513C>G (p.Gly171=) n.292C>G c.*70-4791C>G (n.*70-4791C>G) c.345C>G (p.Gly115=) | |
6 | g.35814646C>T | CA450125233 | LHFPL5 | c.513C>T (p.Gly171=) n.292C>T c.*70-4791C>T (n.*70-4791C>T) c.345C>T (p.Gly115=) | |
6 | g.35814647C>A | CA363785961 | LHFPL5 | c.514C>A (p.His172Asn) n.293C>A c.*70-4790C>A (n.*70-4790C>A) c.346C>A (p.His116Asn) | |
6 | g.35814647C>G | CA363785962 | LHFPL5 | c.514C>G (p.His172Asp) n.293C>G c.*70-4790C>G (n.*70-4790C>G) c.346C>G (p.His116Asp) | |
6 | g.35814647C>T | CA363785959 | LHFPL5 | c.514C>T (p.His172Tyr) n.293C>T c.*70-4790C>T (n.*70-4790C>T) c.346C>T (p.His116Tyr) | |
6 | g.35814648A= | CA1621066442 | LHFPL5 | c.515A= (p.His172=) n.294A= c.*70-4789A= (n.*70-4789A=) c.347A= (p.His116=) | |
6 | g.35814648A>C | CA363785965 | LHFPL5 | c.515A>C (p.His172Pro) n.294A>C c.*70-4789A>C (n.*70-4789A>C) c.347A>C (p.His116Pro) | |
6 | g.35814648A>G | CA363785966 | LHFPL5 | c.515A>G (p.His172Arg) n.294A>G c.*70-4789A>G (n.*70-4789A>G) c.347A>G (p.His116Arg) | dbSNP |
6 | g.35814648A>T | CA363785967 | LHFPL5 | c.515A>T (p.His172Leu) n.294A>T c.*70-4789A>T (n.*70-4789A>T) c.347A>T (p.His116Leu) | |
6 | g.35814649C>A | CA363785970 | LHFPL5 | c.516C>A (p.His172Gln) n.295C>A c.*70-4788C>A (n.*70-4788C>A) c.348C>A (p.His116Gln) | |
6 | g.35814649C>G | CA363785971 | LHFPL5 | c.516C>G (p.His172Gln) n.295C>G c.*70-4788C>G (n.*70-4788C>G) c.348C>G (p.His116Gln) | |
6 | g.35814649C>T | CA450125235 | LHFPL5 | c.516C>T (p.His172=) n.295C>T c.*70-4788C>T (n.*70-4788C>T) c.348C>T (p.His116=) | |
6 | g.35814650T>A | CA363785976 | LHFPL5 | c.517T>A (p.Cys173Ser) n.296T>A c.*70-4787T>A (n.*70-4787T>A) c.349T>A (p.Cys117Ser) | |
6 | g.35814650T>C | CA363785973 | LHFPL5 | c.517T>C (p.Cys173Arg) n.296T>C c.*70-4787T>C (n.*70-4787T>C) c.349T>C (p.Cys117Arg) | |
6 | g.35814650T>G | CA363785974 | LHFPL5 | c.517T>G (p.Cys173Gly) n.296T>G c.*70-4787T>G (n.*70-4787T>G) c.349T>G (p.Cys117Gly) | |
6 | g.35814651G>A | CA363785978 | LHFPL5 | c.518G>A (p.Cys173Tyr) n.297G>A c.*70-4786G>A (n.*70-4786G>A) c.350G>A (p.Cys117Tyr) | |
6 | g.35814651G>C | CA363785980 | LHFPL5 | c.518G>C (p.Cys173Ser) n.297G>C c.*70-4786G>C (n.*70-4786G>C) c.350G>C (p.Cys117Ser) | gnomAD v4 |
6 | g.35814651G>T | CA363785981 | LHFPL5 | c.518G>T (p.Cys173Phe) n.297G>T c.*70-4786G>T (n.*70-4786G>T) c.350G>T (p.Cys117Phe) | |
6 | g.35814652C>A | CA363785983 | LHFPL5 | c.519C>A (p.Cys173Ter) n.298C>A c.*70-4785C>A (n.*70-4785C>A) c.351C>A (p.Cys117Ter) | |
6 | g.35814652C>G | CA363785985 | LHFPL5 | c.519C>G (p.Cys173Trp) n.298C>G c.*70-4785C>G (n.*70-4785C>G) c.351C>G (p.Cys117Trp) | |
6 | g.35814652C>T | CA450125236 | LHFPL5 | c.519C>T (p.Cys173=) n.298C>T c.*70-4785C>T (n.*70-4785C>T) c.351C>T (p.Cys117=) | |
6 | g.35814653A= | CA1621066443 | LHFPL5 | c.520A= (p.Thr174=) n.299A= c.*70-4784A= (n.*70-4784A=) c.352A= (p.Thr118=) | |
6 | g.35814653A>C | CA363785988 | LHFPL5 | c.520A>C (p.Thr174Pro) n.299A>C c.*70-4784A>C (n.*70-4784A>C) c.352A>C (p.Thr118Pro) | dbSNP gnomAD v4 |
6 | g.35814653A>G | CA363785987 | LHFPL5 | c.520A>G (p.Thr174Ala) n.299A>G c.*70-4784A>G (n.*70-4784A>G) c.352A>G (p.Thr118Ala) | |
6 | g.35814653A>T | CA363785986 | LHFPL5 | c.520A>T (p.Thr174Ser) n.299A>T c.*70-4784A>T (n.*70-4784A>T) c.352A>T (p.Thr118Ser) | |
6 | g.35814654C>A | CA363785990 | LHFPL5 | c.521C>A (p.Thr174Asn) n.300C>A c.*70-4783C>A (n.*70-4783C>A) c.353C>A (p.Thr118Asn) | |
6 | g.35814654C= | CA1621066444 | LHFPL5 | c.521C= (p.Thr174=) n.300C= c.*70-4783C= (n.*70-4783C=) c.353C= (p.Thr118=) | |
6 | g.35814654C>G | CA363785993 | LHFPL5 | c.521C>G (p.Thr174Ser) n.300C>G c.*70-4783C>G (n.*70-4783C>G) c.353C>G (p.Thr118Ser) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35814654C>T | CA363785992 | LHFPL5 | c.521C>T (p.Thr174Ile) n.300C>T c.*70-4783C>T (n.*70-4783C>T) c.353C>T (p.Thr118Ile) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35814655C>A | CA450125238 | LHFPL5 | c.522C>A (p.Thr174=) n.301C>A c.*70-4782C>A (n.*70-4782C>A) c.354C>A (p.Thr118=) | |
6 | g.35814655C= | CA1621066445 | LHFPL5 | c.522C= (p.Thr174=) n.301C= c.*70-4782C= (n.*70-4782C=) c.354C= (p.Thr118=) | |
6 | g.35814655C>G | CA450125237 | LHFPL5 | c.522C>G (p.Thr174=) n.301C>G c.*70-4782C>G (n.*70-4782C>G) c.354C>G (p.Thr118=) | gnomAD v4 |
6 | g.35814655C>T | CA137310688 | LHFPL5 | c.522C>T (p.Thr174=) n.301C>T c.*70-4782C>T (n.*70-4782C>T) c.354C>T (p.Thr118=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814656A= | CA1621066446 | LHFPL5 | c.523A= (p.Ile175=) n.302A= c.*70-4781A= (n.*70-4781A=) c.355A= (p.Ile119=) | |
6 | g.35814656A>C | CA363785995 | LHFPL5 | c.523A>C (p.Ile175Leu) n.302A>C c.*70-4781A>C (n.*70-4781A>C) c.355A>C (p.Ile119Leu) | |
6 | g.35814656A>G | CA363785999 | LHFPL5 | c.523A>G (p.Ile175Val) n.302A>G c.*70-4781A>G (n.*70-4781A>G) c.355A>G (p.Ile119Val) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.35814656A>T | CA363785997 | LHFPL5 | c.523A>T (p.Ile175Phe) n.302A>T c.*70-4781A>T (n.*70-4781A>T) c.355A>T (p.Ile119Phe) | |
6 | g.35814657T>A | CA363786000 | LHFPL5 | c.524T>A (p.Ile175Asn) n.303T>A c.*70-4780T>A (n.*70-4780T>A) c.356T>A (p.Ile119Asn) | |
6 | g.35814657T>C | CA363786004 | LHFPL5 | c.524T>C (p.Ile175Thr) n.303T>C c.*70-4780T>C (n.*70-4780T>C) c.356T>C (p.Ile119Thr) | |
6 | g.35814657T>G | CA363786002 | LHFPL5 | c.524T>G (p.Ile175Ser) n.303T>G c.*70-4780T>G (n.*70-4780T>G) c.356T>G (p.Ile119Ser) | |
6 | g.35814658C>A | CA3774433 | LHFPL5 | c.525C>A (p.Ile175=) n.304C>A c.*70-4779C>A (n.*70-4779C>A) c.357C>A (p.Ile119=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35814658C= | CA1621066447 | LHFPL5 | c.525C= (p.Ile175=) n.304C= c.*70-4779C= (n.*70-4779C=) c.357C= (p.Ile119=) | |
6 | g.35814658C>G | CA363786007 | LHFPL5 | c.525C>G (p.Ile175Met) n.304C>G c.*70-4779C>G (n.*70-4779C>G) c.357C>G (p.Ile119Met) | |
6 | g.35814658C>T | CA3774432 | LHFPL5 | c.525C>T (p.Ile175=) n.304C>T c.*70-4779C>T (n.*70-4779C>T) c.357C>T (p.Ile119=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814659del | CA2678433169 | LHFPL5 | c.526del (p.Arg176AlafsTer?) n.305del c.*70-4778del (n.*70-4778del) c.358del (p.Arg120AlafsTer?) | gnomAD v4 |
6 | g.35814659C>A | CA363786009 | LHFPL5 | c.526C>A (p.Arg176Ser) n.305C>A c.*70-4778C>A (n.*70-4778C>A) c.358C>A (p.Arg120Ser) | |
6 | g.35814659C= | CA1621066448 | LHFPL5 | c.526C= (p.Arg176=) n.305C= c.*70-4778C= (n.*70-4778C=) c.358C= (p.Arg120=) | |
6 | g.35814659C>G | CA363786010 | LHFPL5 | c.526C>G (p.Arg176Gly) n.305C>G c.*70-4778C>G (n.*70-4778C>G) c.358C>G (p.Arg120Gly) | |
6 | g.35814659C>T | CA3774434 | LHFPL5 | c.526C>T (p.Arg176Cys) n.305C>T c.*70-4778C>T (n.*70-4778C>T) c.358C>T (p.Arg120Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.35814659_35814672delinsCGCTGGGCCTTCAT | CA1621066449 | LHFPL5 | c.526_539delinsCGCTGGGCCTTCAT (p.Arg176=) n.305_318delinsCGCTGGGCCTTCAT c.*70-4778_*70-4765delinsCGCTGGGCCTTCAT (n.*70-4778_*70-4765delinsCGCTGGGCCTTCAT) c.358_371delinsCGCTGGGCCTTCAT (p.Arg120=) | |
6 | g.35814660G>A | CA3774435 | LHFPL5 | c.527G>A (p.Arg176His) n.306G>A c.*70-4777G>A (n.*70-4777G>A) c.359G>A (p.Arg120His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814660G>C | CA363786012 | LHFPL5 | c.527G>C (p.Arg176Pro) n.306G>C c.*70-4777G>C (n.*70-4777G>C) c.359G>C (p.Arg120Pro) | |
6 | g.35814660G= | CA1621066451 | LHFPL5 | c.527G= (p.Arg176=) n.306G= c.*70-4777G= (n.*70-4777G=) c.359G= (p.Arg120=) | |
6 | g.35814660G>T | CA363786014 | LHFPL5 | c.527G>T (p.Arg176Leu) n.306G>T c.*70-4777G>T (n.*70-4777G>T) c.359G>T (p.Arg120Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.35814665_35814677del | CA1621066450 | LHFPL5 | c.532_544del (p.Ala178ProfsTer?) n.311_323del c.*70-4772_*70-4760del (n.*70-4772_*70-4760del) c.364_376del (p.Ala122ProfsTer?) | dbSNP |
6 | g.35814661C>A | CA450125239 | LHFPL5 | c.528C>A (p.Arg176=) n.307C>A c.*70-4776C>A (n.*70-4776C>A) c.360C>A (p.Arg120=) | |
6 | g.35814661C>G | CA450125240 | LHFPL5 | c.528C>G (p.Arg176=) n.307C>G c.*70-4776C>G (n.*70-4776C>G) c.360C>G (p.Arg120=) | |
6 | g.35814661C>T | CA450125241 | LHFPL5 | c.528C>T (p.Arg176=) n.307C>T c.*70-4776C>T (n.*70-4776C>T) c.360C>T (p.Arg120=) | gnomAD v4 |
6 | g.35814662T>A | CA363786016 | LHFPL5 | c.529T>A (p.Trp177Arg) n.308T>A c.*70-4775T>A (n.*70-4775T>A) c.361T>A (p.Trp121Arg) | |
6 | g.35814662T>C | CA363786018 | LHFPL5 | c.529T>C (p.Trp177Arg) n.308T>C c.*70-4775T>C (n.*70-4775T>C) c.361T>C (p.Trp121Arg) | |
6 | g.35814662T>G | CA363786020 | LHFPL5 | c.529T>G (p.Trp177Gly) n.308T>G c.*70-4775T>G (n.*70-4775T>G) c.361T>G (p.Trp121Gly) | |
6 | g.35814663G>A | CA363786022 | LHFPL5 | c.530G>A (p.Trp177Ter) n.309G>A c.*70-4774G>A (n.*70-4774G>A) c.362G>A (p.Trp121Ter) | |
6 | g.35814663G>C | CA363786024 | LHFPL5 | c.530G>C (p.Trp177Ser) n.309G>C c.*70-4774G>C (n.*70-4774G>C) c.362G>C (p.Trp121Ser) | |
6 | g.35814663G>T | CA363786025 | LHFPL5 | c.530G>T (p.Trp177Leu) n.309G>T c.*70-4774G>T (n.*70-4774G>T) c.362G>T (p.Trp121Leu) | |
6 | g.35814664G>A | CA137310702 | LHFPL5 | c.531G>A (p.Trp177Ter) n.310G>A c.*70-4773G>A (n.*70-4773G>A) c.363G>A (p.Trp121Ter) | dbSNP |
6 | g.35814664G>C | CA363786028 | LHFPL5 | c.531G>C (p.Trp177Cys) n.310G>C c.*70-4773G>C (n.*70-4773G>C) c.363G>C (p.Trp121Cys) | |
6 | g.35814664G= | CA1621066452 | LHFPL5 | c.531G= (p.Trp177=) n.310G= c.*70-4773G= (n.*70-4773G=) c.363G= (p.Trp121=) | |
6 | g.35814664G>T | CA363786030 | LHFPL5 | c.531G>T (p.Trp177Cys) n.310G>T c.*70-4773G>T (n.*70-4773G>T) c.363G>T (p.Trp121Cys) | |
6 | g.35814665G>A | CA363786031 | LHFPL5 | c.532G>A (p.Ala178Thr) n.311G>A c.*70-4772G>A (n.*70-4772G>A) c.364G>A (p.Ala122Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814665G>C | CA363786035 | LHFPL5 | c.532G>C (p.Ala178Pro) n.311G>C c.*70-4772G>C (n.*70-4772G>C) c.364G>C (p.Ala122Pro) | gnomAD v4 |
6 | g.35814665G= | CA1621066453 | LHFPL5 | c.532G= (p.Ala178=) n.311G= c.*70-4772G= (n.*70-4772G=) c.364G= (p.Ala122=) | |
6 | g.35814665G>T | CA363786033 | LHFPL5 | c.532G>T (p.Ala178Ser) n.311G>T c.*70-4772G>T (n.*70-4772G>T) c.364G>T (p.Ala122Ser) | |
6 | g.35814666C>A | CA363786037 | LHFPL5 | c.533C>A (p.Ala178Asp) n.312C>A c.*70-4771C>A (n.*70-4771C>A) c.365C>A (p.Ala122Asp) | |
6 | g.35814666C>G | CA363786039 | LHFPL5 | c.533C>G (p.Ala178Gly) n.312C>G c.*70-4771C>G (n.*70-4771C>G) c.365C>G (p.Ala122Gly) | |
6 | g.35814666C>T | CA363786040 | LHFPL5 | c.533C>T (p.Ala178Val) n.312C>T c.*70-4771C>T (n.*70-4771C>T) c.365C>T (p.Ala122Val) | |
6 | g.35814667C>A | CA450125242 | LHFPL5 | c.534C>A (p.Ala178=) n.313C>A c.*70-4770C>A (n.*70-4770C>A) c.366C>A (p.Ala122=) | |
6 | g.35814667C>G | CA450125243 | LHFPL5 | c.534C>G (p.Ala178=) n.313C>G c.*70-4770C>G (n.*70-4770C>G) c.366C>G (p.Ala122=) | |
6 | g.35814667C>T | CA450125244 | LHFPL5 | c.534C>T (p.Ala178=) n.313C>T c.*70-4770C>T (n.*70-4770C>T) c.366C>T (p.Ala122=) | |
6 | g.35814668T>A | CA363786042 | LHFPL5 | c.535T>A (p.Phe179Ile) n.314T>A c.*70-4769T>A (n.*70-4769T>A) c.367T>A (p.Phe123Ile) | |
6 | g.35814668T>C | CA363786043 | LHFPL5 | c.535T>C (p.Phe179Leu) n.314T>C c.*70-4769T>C (n.*70-4769T>C) c.367T>C (p.Phe123Leu) | |
6 | g.35814668T>G | CA363786045 | LHFPL5 | c.535T>G (p.Phe179Val) n.314T>G c.*70-4769T>G (n.*70-4769T>G) c.367T>G (p.Phe123Val) | |
6 | g.35814669T>A | CA363786047 | LHFPL5 | c.536T>A (p.Phe179Tyr) n.315T>A c.*70-4768T>A (n.*70-4768T>A) c.368T>A (p.Phe123Tyr) | |
6 | g.35814669T>C | CA363786049 | LHFPL5 | c.536T>C (p.Phe179Ser) n.315T>C c.*70-4768T>C (n.*70-4768T>C) c.368T>C (p.Phe123Ser) | gnomAD v4 |
6 | g.35814669T>G | CA363786050 | LHFPL5 | c.536T>G (p.Phe179Cys) n.315T>G c.*70-4768T>G (n.*70-4768T>G) c.368T>G (p.Phe123Cys) | |
6 | g.35814670C>A | CA363786053 | LHFPL5 | c.537C>A (p.Phe179Leu) n.316C>A c.*70-4767C>A (n.*70-4767C>A) c.369C>A (p.Phe123Leu) | |
6 | g.35814670C>G | CA363786052 | LHFPL5 | c.537C>G (p.Phe179Leu) n.316C>G c.*70-4767C>G (n.*70-4767C>G) c.369C>G (p.Phe123Leu) | |
6 | g.35814670C>T | CA450125245 | LHFPL5 | c.537C>T (p.Phe179=) n.316C>T c.*70-4767C>T (n.*70-4767C>T) c.369C>T (p.Phe123=) | gnomAD v4 |
6 | g.35814671A= | CA1621066454 | LHFPL5 | c.538A= (p.Met180=) n.317A= c.*70-4766A= (n.*70-4766A=) c.370A= (p.Met124=) | |
6 | g.35814671A>C | CA363786056 | LHFPL5 | c.538A>C (p.Met180Leu) n.317A>C c.*70-4766A>C (n.*70-4766A>C) c.370A>C (p.Met124Leu) | gnomAD v4 |
6 | g.35814671A>G | CA363786057 | LHFPL5 | c.538A>G (p.Met180Val) n.317A>G c.*70-4766A>G (n.*70-4766A>G) c.370A>G (p.Met124Val) | dbSNP |
6 | g.35814671A>T | CA363786059 | LHFPL5 | c.538A>T (p.Met180Leu) n.317A>T c.*70-4766A>T (n.*70-4766A>T) c.370A>T (p.Met124Leu) | |
6 | g.35814672T>A | CA363786061 | LHFPL5 | c.539T>A (p.Met180Lys) n.318T>A c.*70-4765T>A (n.*70-4765T>A) c.371T>A (p.Met124Lys) | |
6 | g.35814672T>C | CA363786062 | LHFPL5 | c.539T>C (p.Met180Thr) n.318T>C c.*70-4765T>C (n.*70-4765T>C) c.371T>C (p.Met124Thr) | dbSNP gnomAD v4 |
6 | g.35814672T>G | CA363786064 | LHFPL5 | c.539T>G (p.Met180Arg) n.318T>G c.*70-4765T>G (n.*70-4765T>G) c.371T>G (p.Met124Arg) | |
6 | g.35814672T= | CA1621066455 | LHFPL5 | c.539T= (p.Met180=) n.318T= c.*70-4765T= (n.*70-4765T=) c.371T= (p.Met124=) | |
6 | g.35814673G>A | CA363786068 | LHFPL5 | c.540G>A (p.Met180Ile) n.319G>A c.*70-4764G>A (n.*70-4764G>A) c.372G>A (p.Met124Ile) | dbSNP |
6 | g.35814673G>C | CA363786065 | LHFPL5 | c.540G>C (p.Met180Ile) n.319G>C c.*70-4764G>C (n.*70-4764G>C) c.372G>C (p.Met124Ile) | gnomAD v4 |
6 | g.35814673G= | CA1621066456 | LHFPL5 | c.540G= (p.Met180=) n.319G= c.*70-4764G= (n.*70-4764G=) c.372G= (p.Met124=) | |
6 | g.35814673G>T | CA363786067 | LHFPL5 | c.540G>T (p.Met180Ile) n.319G>T c.*70-4764G>T (n.*70-4764G>T) c.372G>T (p.Met124Ile) | |
6 | g.35814674C>A | CA363786070 | LHFPL5 | c.541C>A (p.Leu181Met) n.320C>A c.*70-4763C>A (n.*70-4763C>A) c.373C>A (p.Leu125Met) | |
6 | g.35814674C>G | CA363786072 | LHFPL5 | c.541C>G (p.Leu181Val) n.320C>G c.*70-4763C>G (n.*70-4763C>G) c.373C>G (p.Leu125Val) | gnomAD v4 |
6 | g.35814674C>T | CA450125246 | LHFPL5 | c.541C>T (p.Leu181=) n.320C>T c.*70-4763C>T (n.*70-4763C>T) c.373C>T (p.Leu125=) | |
6 | g.35814675T>A | CA363786074 | LHFPL5 | c.542T>A (p.Leu181Gln) n.321T>A c.*70-4762T>A (n.*70-4762T>A) c.374T>A (p.Leu125Gln) | |
6 | g.35814675T>C | CA363786075 | LHFPL5 | c.542T>C (p.Leu181Pro) n.321T>C c.*70-4762T>C (n.*70-4762T>C) c.374T>C (p.Leu125Pro) | |
6 | g.35814675T>G | CA363786077 | LHFPL5 | c.542T>G (p.Leu181Arg) n.321T>G c.*70-4762T>G (n.*70-4762T>G) c.374T>G (p.Leu125Arg) | |
6 | g.35814676G>A | CA450125249 | LHFPL5 | c.543G>A (p.Leu181=) n.322G>A c.*70-4761G>A (n.*70-4761G>A) c.375G>A (p.Leu125=) | |
6 | g.35814676G>C | CA450125247 | LHFPL5 | c.543G>C (p.Leu181=) n.322G>C c.*70-4761G>C (n.*70-4761G>C) c.375G>C (p.Leu125=) | |
6 | g.35814676G>T | CA450125248 | LHFPL5 | c.543G>T (p.Leu181=) n.322G>T c.*70-4761G>T (n.*70-4761G>T) c.375G>T (p.Leu125=) | |
6 | g.35814677G>A | CA363786079 | LHFPL5 | c.544G>A (p.Ala182Thr) n.323G>A c.*70-4760G>A (n.*70-4760G>A) c.376G>A (p.Ala126Thr) | |
6 | g.35814677G>C | CA363786083 | LHFPL5 | c.544G>C (p.Ala182Pro) n.323G>C c.*70-4760G>C (n.*70-4760G>C) c.376G>C (p.Ala126Pro) | |
6 | g.35814677G>T | CA363786081 | LHFPL5 | c.544G>T (p.Ala182Ser) n.323G>T c.*70-4760G>T (n.*70-4760G>T) c.376G>T (p.Ala126Ser) | gnomAD v4 |
6 | g.35814678C>A | CA363786085 | LHFPL5 | c.545C>A (p.Ala182Asp) n.324C>A c.*70-4759C>A (n.*70-4759C>A) c.377C>A (p.Ala126Asp) | dbSNP |
6 | g.35814678C= | CA1621066457 | LHFPL5 | c.545C= (p.Ala182=) n.324C= c.*70-4759C= (n.*70-4759C=) c.377C= (p.Ala126=) | |
6 | g.35814678C>G | CA363786086 | LHFPL5 | c.545C>G (p.Ala182Gly) n.324C>G c.*70-4759C>G (n.*70-4759C>G) c.377C>G (p.Ala126Gly) | |
6 | g.35814678C>T | CA137310705 | LHFPL5 | c.545C>T (p.Ala182Val) n.324C>T c.*70-4759C>T (n.*70-4759C>T) c.377C>T (p.Ala126Val) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.35814679C>A | CA450125250 | LHFPL5 | c.546C>A (p.Ala182=) n.325C>A c.*70-4758C>A (n.*70-4758C>A) c.378C>A (p.Ala126=) | |
6 | g.35814679C>G | CA450125251 | LHFPL5 | c.546C>G (p.Ala182=) n.325C>G c.*70-4758C>G (n.*70-4758C>G) c.378C>G (p.Ala126=) | |
6 | g.35814679C>T | CA450125252 | LHFPL5 | c.546C>T (p.Ala182=) n.325C>T c.*70-4758C>T (n.*70-4758C>T) c.378C>T (p.Ala126=) | |
6 | g.35814680A>C | CA363786088 | LHFPL5 | c.547A>C (p.Ile183Leu) n.326A>C c.*70-4757A>C (n.*70-4757A>C) c.379A>C (p.Ile127Leu) | |
6 | g.35814680A>G | CA363786090 | LHFPL5 | c.547A>G (p.Ile183Val) n.326A>G c.*70-4757A>G (n.*70-4757A>G) c.379A>G (p.Ile127Val) | gnomAD v4 |
6 | g.35814680A>T | CA363786091 | LHFPL5 | c.547A>T (p.Ile183Phe) n.326A>T c.*70-4757A>T (n.*70-4757A>T) c.379A>T (p.Ile127Phe) | |
6 | g.35814681T>A | CA363786092 | LHFPL5 | c.548T>A (p.Ile183Asn) n.327T>A c.*70-4756T>A (n.*70-4756T>A) c.380T>A (p.Ile127Asn) | |
6 | g.35814681T>C | CA363786094 | LHFPL5 | c.548T>C (p.Ile183Thr) n.327T>C c.*70-4756T>C (n.*70-4756T>C) c.380T>C (p.Ile127Thr) | |
6 | g.35814681T>G | CA363786096 | LHFPL5 | c.548T>G (p.Ile183Ser) n.327T>G c.*70-4756T>G (n.*70-4756T>G) c.380T>G (p.Ile127Ser) | |
6 | g.35814682C>A | CA3774436 | LHFPL5 | c.549C>A (p.Ile183=) n.328C>A c.*70-4755C>A (n.*70-4755C>A) c.381C>A (p.Ile127=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35814682C= | CA1621066458 | LHFPL5 | c.549C= (p.Ile183=) n.328C= c.*70-4755C= (n.*70-4755C=) c.381C= (p.Ile127=) | |
6 | g.35814682C>G | CA363786098 | LHFPL5 | c.549C>G (p.Ile183Met) n.328C>G c.*70-4755C>G (n.*70-4755C>G) c.381C>G (p.Ile127Met) | |
6 | g.35814682C>T | CA450125253 | LHFPL5 | c.549C>T (p.Ile183=) n.328C>T c.*70-4755C>T (n.*70-4755C>T) c.381C>T (p.Ile127=) | gnomAD v4 |
6 | g.35814683del | CA2678433170 | LHFPL5 | c.550del (p.Leu184SerfsTer?) n.329del c.*70-4754del (n.*70-4754del) c.382del (p.Leu128SerfsTer?) | gnomAD v4 |
6 | g.35814683C>A | CA363786103 | LHFPL5 | c.550C>A (p.Leu184Ile) n.329C>A c.*70-4754C>A (n.*70-4754C>A) c.382C>A (p.Leu128Ile) | |
6 | g.35814683C>G | CA363786101 | LHFPL5 | c.550C>G (p.Leu184Val) n.329C>G c.*70-4754C>G (n.*70-4754C>G) c.382C>G (p.Leu128Val) | |
6 | g.35814683C>T | CA363786100 | LHFPL5 | c.550C>T (p.Leu184Phe) n.329C>T c.*70-4754C>T (n.*70-4754C>T) c.382C>T (p.Leu128Phe) | |
6 | g.35814684T>A | CA3774437 | LHFPL5 | c.551T>A (p.Leu184His) n.330T>A c.*70-4753T>A (n.*70-4753T>A) c.383T>A (p.Leu128His) | dbSNP ExAC gnomAD v4 |
6 | g.35814684T>C | CA363786105 | LHFPL5 | c.551T>C (p.Leu184Pro) n.330T>C c.*70-4753T>C (n.*70-4753T>C) c.383T>C (p.Leu128Pro) | |
6 | g.35814684T>G | CA363786106 | LHFPL5 | c.551T>G (p.Leu184Arg) n.330T>G c.*70-4753T>G (n.*70-4753T>G) c.383T>G (p.Leu128Arg) | |
6 | g.35814684T= | CA1621066459 | LHFPL5 | c.551T= (p.Leu184=) n.330T= c.*70-4753T= (n.*70-4753T=) c.383T= (p.Leu128=) | |
6 | g.35814685C>A | CA450125254 | LHFPL5 | c.552C>A (p.Leu184=) n.331C>A c.*70-4752C>A (n.*70-4752C>A) c.384C>A (p.Leu128=) | |
6 | g.35814685C= | CA1621066460 | LHFPL5 | c.552C= (p.Leu184=) n.331C= c.*70-4752C= (n.*70-4752C=) c.384C= (p.Leu128=) | |
6 | g.35814685C>G | CA450125255 | LHFPL5 | c.552C>G (p.Leu184=) n.331C>G c.*70-4752C>G (n.*70-4752C>G) c.384C>G (p.Leu128=) | |
6 | g.35814685C>T | CA3774438 | LHFPL5 | c.552C>T (p.Leu184=) n.331C>T c.*70-4752C>T (n.*70-4752C>T) c.384C>T (p.Leu128=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35814686A= | CA1621066461 | LHFPL5 | c.553A= (p.Ser185=) n.332A= c.*70-4751A= (n.*70-4751A=) c.385A= (p.Ser129=) | |
6 | g.35814686A>C | CA363786109 | LHFPL5 | c.553A>C (p.Ser185Arg) n.332A>C c.*70-4751A>C (n.*70-4751A>C) c.385A>C (p.Ser129Arg) | |
6 | g.35814686A>G | CA363786111 | LHFPL5 | c.553A>G (p.Ser185Gly) n.332A>G c.*70-4751A>G (n.*70-4751A>G) c.385A>G (p.Ser129Gly) | dbSNP |
6 | g.35814686A>T | CA363786112 | LHFPL5 | c.553A>T (p.Ser185Cys) n.332A>T c.*70-4751A>T (n.*70-4751A>T) c.385A>T (p.Ser129Cys) | |
6 | g.35814687G>A | CA363786114 | LHFPL5 | c.554G>A (p.Ser185Asn) n.333G>A c.*70-4750G>A (n.*70-4750G>A) c.386G>A (p.Ser129Asn) | |
6 | g.35814687G>C | CA363786116 | LHFPL5 | c.554G>C (p.Ser185Thr) n.333G>C c.*70-4750G>C (n.*70-4750G>C) c.386G>C (p.Ser129Thr) | |
6 | g.35814687G>T | CA363786118 | LHFPL5 | c.554G>T (p.Ser185Ile) n.333G>T c.*70-4750G>T (n.*70-4750G>T) c.386G>T (p.Ser129Ile) | gnomAD v4 |
6 | g.35814688C>A | CA363786119 | LHFPL5 | c.555C>A (p.Ser185Arg) n.334C>A c.*70-4749C>A (n.*70-4749C>A) c.387C>A (p.Ser129Arg) | gnomAD v4 |
6 | g.35814688C>G | CA363786121 | LHFPL5 | c.555C>G (p.Ser185Arg) n.334C>G c.*70-4749C>G (n.*70-4749C>G) c.387C>G (p.Ser129Arg) | |
6 | g.35814688C>T | CA450125256 | LHFPL5 | c.555C>T (p.Ser185=) n.334C>T c.*70-4749C>T (n.*70-4749C>T) c.387C>T (p.Ser129=) | gnomAD v4 |
6 | g.35814689A= | CA1621066462 | LHFPL5 | c.556A= (p.Ile186=) n.335A= c.*70-4748A= (n.*70-4748A=) c.388A= (p.Ile130=) | |
6 | g.35814689A>C | CA363786122 | LHFPL5 | c.556A>C (p.Ile186Leu) n.335A>C c.*70-4748A>C (n.*70-4748A>C) c.388A>C (p.Ile130Leu) | |
6 | g.35814689A>G | CA363786123 | LHFPL5 | c.556A>G (p.Ile186Val) n.335A>G c.*70-4748A>G (n.*70-4748A>G) c.388A>G (p.Ile130Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814689A>T | CA363786125 | LHFPL5 | c.556A>T (p.Ile186Phe) n.335A>T c.*70-4748A>T (n.*70-4748A>T) c.388A>T (p.Ile130Phe) | |
6 | g.35814690T>A | CA363786129 | LHFPL5 | c.557T>A (p.Ile186Asn) n.336T>A c.*70-4747T>A (n.*70-4747T>A) c.389T>A (p.Ile130Asn) | |
6 | g.35814690T>C | CA363786128 | LHFPL5 | c.557T>C (p.Ile186Thr) n.336T>C c.*70-4747T>C (n.*70-4747T>C) c.389T>C (p.Ile130Thr) | dbSNP gnomAD v4 |
6 | g.35814690T>G | CA363786127 | LHFPL5 | c.557T>G (p.Ile186Ser) n.336T>G c.*70-4747T>G (n.*70-4747T>G) c.389T>G (p.Ile130Ser) | |
6 | g.35814690T= | CA1621066463 | LHFPL5 | c.557T= (p.Ile186=) n.336T= c.*70-4747T= (n.*70-4747T=) c.389T= (p.Ile130=) | |
6 | g.35814691T>A | CA450125257 | LHFPL5 | c.558T>A (p.Ile186=) n.337T>A c.*70-4746T>A (n.*70-4746T>A) c.390T>A (p.Ile130=) | |
6 | g.35814691T>C | CA450125258 | LHFPL5 | c.558T>C (p.Ile186=) n.337T>C c.*70-4746T>C (n.*70-4746T>C) c.390T>C (p.Ile130=) | |
6 | g.35814691T>G | CA363786131 | LHFPL5 | c.558T>G (p.Ile186Met) n.337T>G c.*70-4746T>G (n.*70-4746T>G) c.390T>G (p.Ile130Met) | |
6 | g.35814692G>A | CA363786133 | LHFPL5 | c.559G>A (p.Gly187Ser) n.338G>A c.*70-4745G>A (n.*70-4745G>A) c.391G>A (p.Gly131Ser) | |
6 | g.35814692G>C | CA363786135 | LHFPL5 | c.559G>C (p.Gly187Arg) n.338G>C c.*70-4745G>C (n.*70-4745G>C) c.391G>C (p.Gly131Arg) | |
6 | g.35814692G>T | CA363786136 | LHFPL5 | c.559G>T (p.Gly187Cys) n.338G>T c.*70-4745G>T (n.*70-4745G>T) c.391G>T (p.Gly131Cys) | gnomAD v4 |
6 | g.35814693G>A | CA363786138 | LHFPL5 | c.560G>A (p.Gly187Asp) n.339G>A c.*70-4744G>A (n.*70-4744G>A) c.392G>A (p.Gly131Asp) | |
6 | g.35814693G>C | CA363786139 | LHFPL5 | c.560G>C (p.Gly187Ala) n.339G>C c.*70-4744G>C (n.*70-4744G>C) c.392G>C (p.Gly131Ala) | |
6 | g.35814693G>T | CA363786140 | LHFPL5 | c.560G>T (p.Gly187Val) n.339G>T c.*70-4744G>T (n.*70-4744G>T) c.392G>T (p.Gly131Val) | |
6 | g.35814694C>A | CA450125259 | LHFPL5 | c.561C>A (p.Gly187=) n.340C>A c.*70-4743C>A (n.*70-4743C>A) c.393C>A (p.Gly131=) | |
6 | g.35814694C= | CA1621066464 | LHFPL5 | c.561C= (p.Gly187=) n.340C= c.*70-4743C= (n.*70-4743C=) c.393C= (p.Gly131=) | |
6 | g.35814694C>G | CA450125260 | LHFPL5 | c.561C>G (p.Gly187=) n.340C>G c.*70-4743C>G (n.*70-4743C>G) c.393C>G (p.Gly131=) | |
6 | g.35814694C>T | CA450125261 | LHFPL5 | c.561C>T (p.Gly187=) n.340C>T c.*70-4743C>T (n.*70-4743C>T) c.393C>T (p.Gly131=) | dbSNP gnomAD v4 COSMIC |
6 | g.35814695G>A | CA3774439 | LHFPL5 | c.562G>A (p.Asp188Asn) n.341G>A c.*70-4742G>A (n.*70-4742G>A) c.394G>A (p.Asp132Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814695G>C | CA363786143 | LHFPL5 | c.562G>C (p.Asp188His) n.341G>C c.*70-4742G>C (n.*70-4742G>C) c.394G>C (p.Asp132His) | |
6 | g.35814695G= | CA1621066465 | LHFPL5 | c.562G= (p.Asp188=) n.341G= c.*70-4742G= (n.*70-4742G=) c.394G= (p.Asp132=) | |
6 | g.35814695G>T | CA363786145 | LHFPL5 | c.562G>T (p.Asp188Tyr) n.341G>T c.*70-4742G>T (n.*70-4742G>T) c.394G>T (p.Asp132Tyr) | |
6 | g.35814696A>C | CA363786147 | LHFPL5 | c.563A>C (p.Asp188Ala) n.342A>C c.*70-4741A>C (n.*70-4741A>C) c.395A>C (p.Asp132Ala) | |
6 | g.35814696A>G | CA363786149 | LHFPL5 | c.563A>G (p.Asp188Gly) n.342A>G c.*70-4741A>G (n.*70-4741A>G) c.395A>G (p.Asp132Gly) | |
6 | g.35814696A>T | CA363786151 | LHFPL5 | c.563A>T (p.Asp188Val) n.342A>T c.*70-4741A>T (n.*70-4741A>T) c.395A>T (p.Asp132Val) | |
6 | g.35814697C>A | CA363786152 | LHFPL5 | c.564C>A (p.Asp188Glu) n.343C>A c.*70-4740C>A (n.*70-4740C>A) c.396C>A (p.Asp132Glu) | |
6 | g.35814697C= | CA1621066466 | LHFPL5 | c.564C= (p.Asp188=) n.343C= c.*70-4740C= (n.*70-4740C=) c.396C= (p.Asp132=) | |
6 | g.35814697C>G | CA363786154 | LHFPL5 | c.564C>G (p.Asp188Glu) n.343C>G c.*70-4740C>G (n.*70-4740C>G) c.396C>G (p.Asp132Glu) | |
6 | g.35814697C>T | CA450125262 | LHFPL5 | c.564C>T (p.Asp188=) n.343C>T c.*70-4740C>T (n.*70-4740C>T) c.396C>T (p.Asp132=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.35814698G>A | CA3774440 | LHFPL5 | c.565G>A (p.Ala189Thr) n.344G>A c.*70-4739G>A (n.*70-4739G>A) c.397G>A (p.Ala133Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814698G>C | CA363786156 | LHFPL5 | c.565G>C (p.Ala189Pro) n.344G>C c.*70-4739G>C (n.*70-4739G>C) c.397G>C (p.Ala133Pro) | |
6 | g.35814698G= | CA1621066467 | LHFPL5 | c.565G= (p.Ala189=) n.344G= c.*70-4739G= (n.*70-4739G=) c.397G= (p.Ala133=) | |
6 | g.35814698G>T | CA363786158 | LHFPL5 | c.565G>T (p.Ala189Ser) n.344G>T c.*70-4739G>T (n.*70-4739G>T) c.397G>T (p.Ala133Ser) | |
6 | g.35814699C>A | CA363786159 | LHFPL5 | c.566C>A (p.Ala189Asp) n.345C>A c.*70-4738C>A (n.*70-4738C>A) c.398C>A (p.Ala133Asp) | |
6 | g.35814699C= | CA1621066468 | LHFPL5 | c.566C= (p.Ala189=) n.345C= c.*70-4738C= (n.*70-4738C=) c.398C= (p.Ala133=) | |
6 | g.35814699C>G | CA3774441 | LHFPL5 | c.566C>G (p.Ala189Gly) n.345C>G c.*70-4738C>G (n.*70-4738C>G) c.398C>G (p.Ala133Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35814699C>T | CA363786160 | LHFPL5 | c.566C>T (p.Ala189Val) n.345C>T c.*70-4738C>T (n.*70-4738C>T) c.398C>T (p.Ala133Val) | |
6 | g.35814700C>A | CA450125263 | LHFPL5 | c.567C>A (p.Ala189=) n.346C>A c.*70-4737C>A (n.*70-4737C>A) c.399C>A (p.Ala133=) | |
6 | g.35814700C= | CA1621066469 | LHFPL5 | c.567C= (p.Ala189=) n.346C= c.*70-4737C= (n.*70-4737C=) c.399C= (p.Ala133=) | |
6 | g.35814700C>G | CA3774442 | LHFPL5 | c.567C>G (p.Ala189=) n.346C>G c.*70-4737C>G (n.*70-4737C>G) c.399C>G (p.Ala133=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814700C>T | CA450125264 | LHFPL5 | c.567C>T (p.Ala189=) n.346C>T c.*70-4737C>T (n.*70-4737C>T) c.399C>T (p.Ala133=) | |
6 | g.35814701C>A | CA363786164 | LHFPL5 | c.568C>A (p.Leu190Ile) n.347C>A c.*70-4736C>A (n.*70-4736C>A) c.400C>A (p.Leu134Ile) | |
6 | g.35814701C= | CA1621066470 | LHFPL5 | c.568C= (p.Leu190=) n.347C= c.*70-4736C= (n.*70-4736C=) c.400C= (p.Leu134=) | |
6 | g.35814701C>G | CA363786166 | LHFPL5 | c.568C>G (p.Leu190Val) n.347C>G c.*70-4736C>G (n.*70-4736C>G) c.400C>G (p.Leu134Val) | gnomAD v4 |
6 | g.35814701C>T | CA363786165 | LHFPL5 | c.568C>T (p.Leu190Phe) n.347C>T c.*70-4736C>T (n.*70-4736C>T) c.400C>T (p.Leu134Phe) | dbSNP |
6 | g.35814702T>A | CA363786169 | LHFPL5 | c.569T>A (p.Leu190His) n.348T>A c.*70-4735T>A (n.*70-4735T>A) c.401T>A (p.Leu134His) | |
6 | g.35814702T>C | CA363786170 | LHFPL5 | c.569T>C (p.Leu190Pro) n.348T>C c.*70-4735T>C (n.*70-4735T>C) c.401T>C (p.Leu134Pro) | |
6 | g.35814702T>G | CA363786172 | LHFPL5 | c.569T>G (p.Leu190Arg) n.348T>G c.*70-4735T>G (n.*70-4735T>G) c.401T>G (p.Leu134Arg) | dbSNP |
6 | g.35814702T= | CA1621066471 | LHFPL5 | c.569T= (p.Leu190=) n.348T= c.*70-4735T= (n.*70-4735T=) c.401T= (p.Leu134=) | |
6 | g.35814703C>A | CA450125265 | LHFPL5 | c.570C>A (p.Leu190=) n.349C>A c.*70-4734C>A (n.*70-4734C>A) c.402C>A (p.Leu134=) | |
6 | g.35814703C= | CA1621066472 | LHFPL5 | c.570C= (p.Leu190=) n.349C= c.*70-4734C= (n.*70-4734C=) c.402C= (p.Leu134=) | |
6 | g.35814703C>G | CA450125266 | LHFPL5 | c.570C>G (p.Leu190=) n.349C>G c.*70-4734C>G (n.*70-4734C>G) c.402C>G (p.Leu134=) | |
6 | g.35814703C>T | CA3774443 | LHFPL5 | c.570C>T (p.Leu190=) n.349C>T c.*70-4734C>T (n.*70-4734C>T) c.402C>T (p.Leu134=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35814704A>C | CA363786175 | LHFPL5 | c.571A>C (p.Ile191Leu) n.350A>C c.*70-4733A>C (n.*70-4733A>C) c.403A>C (p.Ile135Leu) | |
6 | g.35814704A>G | CA363786178 | LHFPL5 | c.571A>G (p.Ile191Val) n.350A>G c.*70-4733A>G (n.*70-4733A>G) c.403A>G (p.Ile135Val) | |
6 | g.35814704A>T | CA363786177 | LHFPL5 | c.571A>T (p.Ile191Phe) n.350A>T c.*70-4733A>T (n.*70-4733A>T) c.403A>T (p.Ile135Phe) | |
6 | g.35814705T>A | CA363786182 | LHFPL5 | c.572T>A (p.Ile191Asn) n.351T>A c.*70-4732T>A (n.*70-4732T>A) c.404T>A (p.Ile135Asn) | |
6 | g.35814705T>C | CA363786183 | LHFPL5 | c.572T>C (p.Ile191Thr) n.351T>C c.*70-4732T>C (n.*70-4732T>C) c.404T>C (p.Ile135Thr) | |
6 | g.35814705T>G | CA363786185 | LHFPL5 | c.572T>G (p.Ile191Ser) n.351T>G c.*70-4732T>G (n.*70-4732T>G) c.404T>G (p.Ile135Ser) | |
6 | g.35814706C>A | CA450125268 | LHFPL5 | c.573C>A (p.Ile191=) n.352C>A c.*70-4731C>A (n.*70-4731C>A) c.405C>A (p.Ile135=) | |
6 | g.35814706C>G | CA363786188 | LHFPL5 | c.573C>G (p.Ile191Met) n.352C>G c.*70-4731C>G (n.*70-4731C>G) c.405C>G (p.Ile135Met) | |
6 | g.35814706C>T | CA450125267 | LHFPL5 | c.573C>T (p.Ile191=) n.352C>T c.*70-4731C>T (n.*70-4731C>T) c.405C>T (p.Ile135=) | |
6 | g.35814707C>A | CA363786189 | LHFPL5 | c.574C>A (p.Leu192Ile) n.353C>A c.*70-4730C>A (n.*70-4730C>A) c.406C>A (p.Leu136Ile) | gnomAD v4 |
6 | g.35814707C>G | CA363786190 | LHFPL5 | c.574C>G (p.Leu192Val) n.353C>G c.*70-4730C>G (n.*70-4730C>G) c.406C>G (p.Leu136Val) | |
6 | g.35814707C>T | CA363786191 | LHFPL5 | c.574C>T (p.Leu192Phe) n.353C>T c.*70-4730C>T (n.*70-4730C>T) c.406C>T (p.Leu136Phe) | |
6 | g.35814708T>A | CA363786193 | LHFPL5 | c.575T>A (p.Leu192His) n.354T>A c.*70-4729T>A (n.*70-4729T>A) c.407T>A (p.Leu136His) | |
6 | g.35814708T>C | CA363786195 | LHFPL5 | c.575T>C (p.Leu192Pro) n.354T>C c.*70-4729T>C (n.*70-4729T>C) c.407T>C (p.Leu136Pro) | ClinVar dbSNP |
6 | g.35814708T>G | CA363786196 | LHFPL5 | c.575T>G (p.Leu192Arg) n.354T>G c.*70-4729T>G (n.*70-4729T>G) c.407T>G (p.Leu136Arg) | |
6 | g.35814708T= | CA1621066473 | LHFPL5 | c.575T= (p.Leu192=) n.354T= c.*70-4729T= (n.*70-4729T=) c.407T= (p.Leu136=) | |
6 | g.35814709C>A | CA450125269 | LHFPL5 | c.576C>A (p.Leu192=) n.355C>A c.*70-4728C>A (n.*70-4728C>A) c.408C>A (p.Leu136=) | |
6 | g.35814709C= | CA1621066474 | LHFPL5 | c.576C= (p.Leu192=) n.355C= c.*70-4728C= (n.*70-4728C=) c.408C= (p.Leu136=) | |
6 | g.35814709C>G | CA450125270 | LHFPL5 | c.576C>G (p.Leu192=) n.355C>G c.*70-4728C>G (n.*70-4728C>G) c.408C>G (p.Leu136=) | gnomAD v4 |
6 | g.35814709C>T | CA3774444 | LHFPL5 | c.576C>T (p.Leu192=) n.355C>T c.*70-4728C>T (n.*70-4728C>T) c.408C>T (p.Leu136=) | dbSNP ExAC |
6 | g.35814710T>A | CA363786201 | LHFPL5 | c.577T>A (p.Ser193Thr) n.356T>A c.*70-4727T>A (n.*70-4727T>A) c.409T>A (p.Ser137Thr) | |
6 | g.35814710T>C | CA137310729 | LHFPL5 | c.577T>C (p.Ser193Pro) n.356T>C c.*70-4727T>C (n.*70-4727T>C) c.409T>C (p.Ser137Pro) | dbSNP gnomAD v4 |
6 | g.35814710T>G | CA363786200 | LHFPL5 | c.577T>G (p.Ser193Ala) n.356T>G c.*70-4727T>G (n.*70-4727T>G) c.409T>G (p.Ser137Ala) | |
6 | g.35814710T= | CA1621066475 | LHFPL5 | c.577T= (p.Ser193=) n.356T= c.*70-4727T= (n.*70-4727T=) c.409T= (p.Ser137=) | |
6 | g.35814711C>A | CA363786204 | LHFPL5 | c.578C>A (p.Ser193Tyr) n.357C>A c.*70-4726C>A (n.*70-4726C>A) c.410C>A (p.Ser137Tyr) | |
6 | g.35814711C= | CA1621066476 | LHFPL5 | c.578C= (p.Ser193=) n.357C= c.*70-4726C= (n.*70-4726C=) c.410C= (p.Ser137=) | |
6 | g.35814711C>G | CA363786208 | LHFPL5 | c.578C>G (p.Ser193Cys) n.357C>G c.*70-4726C>G (n.*70-4726C>G) c.410C>G (p.Ser137Cys) | |
6 | g.35814711C>T | CA363786206 | LHFPL5 | c.578C>T (p.Ser193Phe) n.357C>T c.*70-4726C>T (n.*70-4726C>T) c.410C>T (p.Ser137Phe) | dbSNP COSMIC |
6 | g.35814712C>A | CA450125271 | LHFPL5 | c.579C>A (p.Ser193=) n.358C>A c.*70-4725C>A (n.*70-4725C>A) c.411C>A (p.Ser137=) | |
6 | g.35814712C>G | CA450125272 | LHFPL5 | c.579C>G (p.Ser193=) n.358C>G c.*70-4725C>G (n.*70-4725C>G) c.411C>G (p.Ser137=) | |
6 | g.35814712C>T | CA450125273 | LHFPL5 | c.579C>T (p.Ser193=) n.358C>T c.*70-4725C>T (n.*70-4725C>T) c.411C>T (p.Ser137=) | gnomAD v4 COSMIC |
6 | g.35814713T>A | CA363786210 | LHFPL5 | c.580T>A (p.Phe194Ile) n.359T>A c.*70-4724T>A (n.*70-4724T>A) c.412T>A (p.Phe138Ile) | COSMIC |
6 | g.35814713T>C | CA363786213 | LHFPL5 | c.580T>C (p.Phe194Leu) n.359T>C c.*70-4724T>C (n.*70-4724T>C) c.412T>C (p.Phe138Leu) | |
6 | g.35814713T>G | CA363786211 | LHFPL5 | c.580T>G (p.Phe194Val) n.359T>G c.*70-4724T>G (n.*70-4724T>G) c.412T>G (p.Phe138Val) | |
6 | g.35814714T>A | CA363786214 | LHFPL5 | c.581T>A (p.Phe194Tyr) n.360T>A c.*70-4723T>A (n.*70-4723T>A) c.413T>A (p.Phe138Tyr) | |
6 | g.35814714T>C | CA363786216 | LHFPL5 | c.581T>C (p.Phe194Ser) n.360T>C c.*70-4723T>C (n.*70-4723T>C) c.413T>C (p.Phe138Ser) | |
6 | g.35814714T>G | CA363786218 | LHFPL5 | c.581T>G (p.Phe194Cys) n.360T>G c.*70-4723T>G (n.*70-4723T>G) c.413T>G (p.Phe138Cys) | |
6 | g.35814715C>A | CA363786219 | LHFPL5 | c.582C>A (p.Phe194Leu) n.361C>A c.*70-4722C>A (n.*70-4722C>A) c.414C>A (p.Phe138Leu) | |
6 | g.35814715C>G | CA363786221 | LHFPL5 | c.582C>G (p.Phe194Leu) n.361C>G c.*70-4722C>G (n.*70-4722C>G) c.414C>G (p.Phe138Leu) | |
6 | g.35814715C>T | CA450125274 | LHFPL5 | c.582C>T (p.Phe194=) n.361C>T c.*70-4722C>T (n.*70-4722C>T) c.414C>T (p.Phe138=) | |
6 | g.35814716C>A | CA363786222 | LHFPL5 | c.583C>A (p.Leu195Met) n.362C>A c.*70-4721C>A (n.*70-4721C>A) c.415C>A (p.Leu139Met) | |
6 | g.35814716C>G | CA363786224 | LHFPL5 | c.583C>G (p.Leu195Val) n.362C>G c.*70-4721C>G (n.*70-4721C>G) c.415C>G (p.Leu139Val) | |
6 | g.35814716C>T | CA450125275 | LHFPL5 | c.583C>T (p.Leu195=) n.362C>T c.*70-4721C>T (n.*70-4721C>T) c.415C>T (p.Leu139=) | |
6 | g.35814717T>A | CA363786226 | LHFPL5 | c.584T>A (p.Leu195Gln) n.363T>A c.*70-4720T>A (n.*70-4720T>A) c.416T>A (p.Leu139Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814717T>C | CA363786228 | LHFPL5 | c.584T>C (p.Leu195Pro) n.363T>C c.*70-4720T>C (n.*70-4720T>C) c.416T>C (p.Leu139Pro) | |
6 | g.35814717T>G | CA363786229 | LHFPL5 | c.584T>G (p.Leu195Arg) n.363T>G c.*70-4720T>G (n.*70-4720T>G) c.416T>G (p.Leu139Arg) | |
6 | g.35814717T= | CA1621066477 | LHFPL5 | c.584T= (p.Leu195=) n.363T= c.*70-4720T= (n.*70-4720T=) c.416T= (p.Leu139=) | |
6 | g.35814718G>A | CA450125276 | LHFPL5 | c.585G>A (p.Leu195=) n.364G>A c.*70-4719G>A (n.*70-4719G>A) c.417G>A (p.Leu139=) | |
6 | g.35814718G>C | CA450125277 | LHFPL5 | c.585G>C (p.Leu195=) n.364G>C c.*70-4719G>C (n.*70-4719G>C) c.417G>C (p.Leu139=) | |
6 | g.35814718G>T | CA450125278 | LHFPL5 | c.585G>T (p.Leu195=) n.364G>T c.*70-4719G>T (n.*70-4719G>T) c.417G>T (p.Leu139=) | COSMIC |
6 | g.35814719G>A | CA363786234 | LHFPL5 | c.586G>A (p.Ala196Thr) n.365G>A c.*70-4718G>A (n.*70-4718G>A) c.418G>A (p.Ala140Thr) | |
6 | g.35814719G>C | CA363786232 | LHFPL5 | c.586G>C (p.Ala196Pro) n.365G>C c.*70-4718G>C (n.*70-4718G>C) c.418G>C (p.Ala140Pro) | |
6 | g.35814719G= | CA1621066478 | LHFPL5 | c.586G= (p.Ala196=) n.365G= c.*70-4718G= (n.*70-4718G=) c.418G= (p.Ala140=) | |
6 | g.35814719G>T | CA3774445 | LHFPL5 | c.586G>T (p.Ala196Ser) n.365G>T c.*70-4718G>T (n.*70-4718G>T) c.418G>T (p.Ala140Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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 |