| 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.35806050A= | CA1621062665 | LHFPL5 | c.380A= (p.Tyr127=) c.212A= (p.Tyr71=) | |
| 6 | g.35806050A>C | CA363785157 | LHFPL5 | c.380A>C (p.Tyr127Ser) c.212A>C (p.Tyr71Ser) | |
| 6 | g.35806050A>G | CA251915 | LHFPL5 | c.380A>G (p.Tyr127Cys) c.212A>G (p.Tyr71Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35806050A>T | CA363785159 | LHFPL5 | c.380A>T (p.Tyr127Phe) c.212A>T (p.Tyr71Phe) | |
| 6 | g.35806051T>A | CA363785162 | LHFPL5 | c.381T>A (p.Tyr127Ter) c.213T>A (p.Tyr71Ter) | |
| 6 | g.35806051T>C | CA450125445 | LHFPL5 | c.381T>C (p.Tyr127=) c.213T>C (p.Tyr71=) | |
| 6 | g.35806051T>G | CA363785163 | LHFPL5 | c.381T>G (p.Tyr127Ter) c.213T>G (p.Tyr71Ter) | |
| 6 | g.35806052A= | CA1621062666 | LHFPL5 | c.382A= (p.Lys128=) c.214A= (p.Lys72=) | |
| 6 | g.35806052A>C | CA363785166 | LHFPL5 | c.382A>C (p.Lys128Gln) c.214A>C (p.Lys72Gln) | |
| 6 | g.35806052A>G | CA363785168 | LHFPL5 | c.382A>G (p.Lys128Glu) c.214A>G (p.Lys72Glu) | dbSNP gnomAD v4 |
| 6 | g.35806052A>T | CA363785171 | LHFPL5 | c.382A>T (p.Lys128Ter) c.214A>T (p.Lys72Ter) | |
| 6 | g.35806053A>C | CA363785174 | LHFPL5 | c.383A>C (p.Lys128Thr) c.215A>C (p.Lys72Thr) | |
| 6 | g.35806053A>G | CA363785176 | LHFPL5 | c.383A>G (p.Lys128Arg) c.215A>G (p.Lys72Arg) | |
| 6 | g.35806053A>T | CA363785178 | LHFPL5 | c.383A>T (p.Lys128Met) c.215A>T (p.Lys72Met) | |
| 6 | g.35806054G>A | CA137307604 | LHFPL5 | c.384G>A (p.Lys128=) c.216G>A (p.Lys72=) | dbSNP |
| 6 | g.35806054G>C | CA363785183 | LHFPL5 | c.384G>C (p.Lys128Asn) c.216G>C (p.Lys72Asn) | |
| 6 | g.35806054G= | CA1621062667 | LHFPL5 | c.384G= (p.Lys128=) c.216G= (p.Lys72=) | |
| 6 | g.35806054G>T | CA363785181 | LHFPL5 | c.384G>T (p.Lys128Asn) c.216G>T (p.Lys72Asn) | |
| 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) |