Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.35806048_35806058del | CA2678432741 | LHFPL5 | c.378_388del (p.Tyr127CysfsTer20) c.378_388del (p.Tyr127CysfsTer21) c.210_220del (p.Tyr71CysfsTer20) | gnomAD v4 |
6 | g.35806055A= | CA1621062668 | LHFPL5 | c.385A= (p.Ile129=) c.217A= (p.Ile73=) | |
6 | g.35806055A>C | CA363785185 | LHFPL5 | c.385A>C (p.Ile129Leu) c.217A>C (p.Ile73Leu) | |
6 | g.35806055A>G | CA3774385 | LHFPL5 | c.385A>G (p.Ile129Val) c.217A>G (p.Ile73Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35806055A>T | CA363785186 | LHFPL5 | c.385A>T (p.Ile129Phe) c.217A>T (p.Ile73Phe) | |
6 | g.35806056T>A | CA363785187 | LHFPL5 | c.386T>A (p.Ile129Asn) c.218T>A (p.Ile73Asn) | |
6 | g.35806056T>C | CA363785188 | LHFPL5 | c.386T>C (p.Ile129Thr) c.218T>C (p.Ile73Thr) | |
6 | g.35806056T>G | CA363785189 | LHFPL5 | c.386T>G (p.Ile129Ser) c.218T>G (p.Ile73Ser) | |
6 | g.35806057C>A | CA450125449 | LHFPL5 | c.387C>A (p.Ile129=) c.219C>A (p.Ile73=) | |
6 | g.35806057C>G | CA363785190 | LHFPL5 | c.387C>G (p.Ile129Met) c.219C>G (p.Ile73Met) | |
6 | g.35806057C>T | CA450125450 | LHFPL5 | c.387C>T (p.Ile129=) c.219C>T (p.Ile73=) | |
6 | g.35806058T>A | CA363785191 | LHFPL5 | c.388T>A (p.Cys130Ser) c.220T>A (p.Cys74Ser) | gnomAD v4 |
6 | g.35806058T>C | CA363785192 | LHFPL5 | c.388T>C (p.Cys130Arg) c.220T>C (p.Cys74Arg) | |
6 | g.35806058T>G | CA363785193 | LHFPL5 | c.388T>G (p.Cys130Gly) c.220T>G (p.Cys74Gly) | |
6 | g.35806059G>A | CA363785194 | LHFPL5 | c.389G>A (p.Cys130Tyr) c.221G>A (p.Cys74Tyr) | |
6 | g.35806059G>C | CA363785195 | LHFPL5 | c.389G>C (p.Cys130Ser) c.221G>C (p.Cys74Ser) | dbSNP |
6 | g.35806059G= | CA1621062669 | LHFPL5 | c.389G= (p.Cys130=) c.221G= (p.Cys74=) | |
6 | g.35806059G>T | CA363785196 | LHFPL5 | c.389G>T (p.Cys130Phe) c.221G>T (p.Cys74Phe) | |
6 | g.35806060T>A | CA363785198 | LHFPL5 | c.390T>A (p.Cys130Ter) c.222T>A (p.Cys74Ter) | |
6 | g.35806060T>C | CA450125454 | LHFPL5 | c.390T>C (p.Cys130=) c.222T>C (p.Cys74=) | |
6 | g.35806060T>G | CA363785197 | LHFPL5 | c.390T>G (p.Cys130Trp) c.222T>G (p.Cys74Trp) | |
6 | g.35806061G>A | CA363785199 | LHFPL5 | c.391G>A (p.Ala131Thr) c.223G>A (p.Ala75Thr) | |
6 | g.35806061G>C | CA363785200 | LHFPL5 | c.391G>C (p.Ala131Pro) c.223G>C (p.Ala75Pro) | |
6 | g.35806061G= | CA1621062670 | LHFPL5 | c.391G= (p.Ala131=) c.223G= (p.Ala75=) | |
6 | g.35806061G>T | CA363785201 | LHFPL5 | c.391G>T (p.Ala131Ser) c.223G>T (p.Ala75Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.35806062C>A | CA363785202 | LHFPL5 | c.392C>A (p.Ala131Glu) c.224C>A (p.Ala75Glu) | |
6 | g.35806062C>G | CA363785203 | LHFPL5 | c.392C>G (p.Ala131Gly) c.224C>G (p.Ala75Gly) | gnomAD v4 |
6 | g.35806062C>T | CA363785205 | LHFPL5 | c.392C>T (p.Ala131Val) c.224C>T (p.Ala75Val) | gnomAD v4 |
6 | g.35806063A>C | CA450125455 | LHFPL5 | c.393A>C (p.Ala131=) c.225A>C (p.Ala75=) | |
6 | g.35806063A>G | CA450125456 | LHFPL5 | c.393A>G (p.Ala131=) c.225A>G (p.Ala75=) | gnomAD v4 |
6 | g.35806063A>T | CA450125458 | LHFPL5 | c.393A>T (p.Ala131=) c.225A>T (p.Ala75=) | |
6 | g.35806064T>A | CA363785206 | LHFPL5 | c.394T>A (p.Trp132Arg) c.226T>A (p.Trp76Arg) | |
6 | g.35806064T>C | CA363785207 | LHFPL5 | c.394T>C (p.Trp132Arg) c.226T>C (p.Trp76Arg) | gnomAD v4 |
6 | g.35806064T>G | CA363785208 | LHFPL5 | c.394T>G (p.Trp132Gly) c.226T>G (p.Trp76Gly) | |
6 | g.35806065G>A | CA363785209 | LHFPL5 | c.395G>A (p.Trp132Ter) c.227G>A (p.Trp76Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35806065G>C | CA363785210 | LHFPL5 | c.395G>C (p.Trp132Ser) c.227G>C (p.Trp76Ser) | |
6 | g.35806065G= | CA1621062671 | LHFPL5 | c.395G= (p.Trp132=) c.227G= (p.Trp76=) | |
6 | g.35806065G>T | CA3774386 | LHFPL5 | c.395G>T (p.Trp132Leu) c.227G>T (p.Trp76Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35806066G>A | CA363785213 | LHFPL5 | c.396G>A (p.Trp132Ter) c.228G>A (p.Trp76Ter) | |
6 | g.35806066G>C | CA363785212 | LHFPL5 | c.396G>C (p.Trp132Cys) c.228G>C (p.Trp76Cys) | |
6 | g.35806066G>T | CA363785211 | LHFPL5 | c.396G>T (p.Trp132Cys) c.228G>T (p.Trp76Cys) | |
6 | g.35806067A= | CA1621062672 | LHFPL5 | c.397A= (p.Met133=) c.229A= (p.Met77=) | |
6 | g.35806067A>C | CA363785214 | LHFPL5 | c.397A>C (p.Met133Leu) c.229A>C (p.Met77Leu) | gnomAD v4 |
6 | g.35806067A>G | CA363785216 | LHFPL5 | c.397A>G (p.Met133Val) c.229A>G (p.Met77Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.35806067A>T | CA363785215 | LHFPL5 | c.397A>T (p.Met133Leu) c.229A>T (p.Met77Leu) | |
6 | g.35806068del | CA2678432742 | LHFPL5 | c.398del (p.Met133SerfsTer9) c.398del (p.Met133SerfsTer?) c.230del (p.Met77SerfsTer9) | gnomAD v4 |
6 | g.35806068T>A | CA363785218 | LHFPL5 | c.398T>A (p.Met133Lys) c.230T>A (p.Met77Lys) | |
6 | g.35806068T>C | CA363785223 | LHFPL5 | c.398T>C (p.Met133Thr) c.230T>C (p.Met77Thr) | |
6 | g.35806068T>G | CA363785220 | LHFPL5 | c.398T>G (p.Met133Arg) c.230T>G (p.Met77Arg) | |
6 | g.35806069G>A | CA363785225 | LHFPL5 | c.399G>A (p.Met133Ile) c.231G>A (p.Met77Ile) | gnomAD v4 |