Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
6 | g.35806069G>C | CA363785226 | LHFPL5 | c.399G>C (p.Met133Ile) c.231G>C (p.Met77Ile) | |
6 | g.35806069G>T | CA363785229 | LHFPL5 | c.399G>T (p.Met133Ile) c.231G>T (p.Met77Ile) | |
6 | g.35806070C>A | CA363785231 | LHFPL5 | c.400C>A (p.Gln134Lys) c.232C>A (p.Gln78Lys) | gnomAD v4 |
6 | g.35806070C= | CA1621062673 | LHFPL5 | c.400C= (p.Gln134=) c.232C= (p.Gln78=) | |
6 | g.35806070C>G | CA363785233 | LHFPL5 | c.400C>G (p.Gln134Glu) c.232C>G (p.Gln78Glu) | |
6 | g.35806070C>T | CA363785235 | LHFPL5 | c.400C>T (p.Gln134Ter) c.232C>T (p.Gln78Ter) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35806071A>C | CA363785237 | LHFPL5 | c.401A>C (p.Gln134Pro) c.233A>C (p.Gln78Pro) | |
6 | g.35806071A>G | CA363785239 | LHFPL5 | c.401A>G (p.Gln134Arg) c.233A>G (p.Gln78Arg) | |
6 | g.35806071A>T | CA363785241 | LHFPL5 | c.401A>T (p.Gln134Leu) c.233A>T (p.Gln78Leu) | |
6 | g.35806072G>A | CA450125467 | LHFPL5 | c.402G>A (p.Gln134=) c.234G>A (p.Gln78=) | |
6 | g.35806072G>C | CA363785243 | LHFPL5 | c.402G>C (p.Gln134His) c.234G>C (p.Gln78His) | |
6 | g.35806072G>T | CA363785245 | LHFPL5 | c.402G>T (p.Gln134His) c.234G>T (p.Gln78His) | |
6 | g.35806073C>A | CA363785247 | LHFPL5 | c.403C>A (p.Leu135Met) c.235C>A (p.Leu79Met) | |
6 | g.35806073C>G | CA363785249 | LHFPL5 | c.403C>G (p.Leu135Val) c.235C>G (p.Leu79Val) | |
6 | g.35806073C>T | CA450125470 | LHFPL5 | c.403C>T (p.Leu135=) c.235C>T (p.Leu79=) | |
6 | g.35806074T>A | CA363785257 | LHFPL5 | c.404T>A (p.Leu135Gln) c.236T>A (p.Leu79Gln) | |
6 | g.35806074T>C | CA363785254 | LHFPL5 | c.404T>C (p.Leu135Pro) c.236T>C (p.Leu79Pro) | |
6 | g.35806074T>G | CA363785252 | LHFPL5 | c.404T>G (p.Leu135Arg) c.236T>G (p.Leu79Arg) | dbSNP gnomAD v2 |
6 | g.35806074T= | CA1621062674 | LHFPL5 | c.404T= (p.Leu135=) c.236T= (p.Leu79=) | |
6 | g.35806075G>A | CA450125473 | LHFPL5 | c.405G>A (p.Leu135=) c.237G>A (p.Leu79=) | |
6 | g.35806075G>C | CA450125474 | LHFPL5 | c.405G>C (p.Leu135=) c.237G>C (p.Leu79=) |