Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.35805836_35805885delinsACACCGCAGGCAGGCTACTTCGGCCTTTTCTCCTACTGCGTGGGTAACGT | CA1621062574 | LHFPL5 | c.166_215delinsACACCGCAGGCAGGCTACTTCGGCCTTTTCTCCTACTGCGTGGGTAACGT (p.Thr56=) | |
6 | g.35805837_35805885del | CA566703525 | LHFPL5 | c.167_215del (p.Thr56SerfsTer13) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35805850C>A | CA450125603 | LHFPL5 | c.180C>A (p.Gly60=) c.12C>A (p.Gly4=) | |
6 | g.35805850C>G | CA450125602 | LHFPL5 | c.180C>G (p.Gly60=) c.12C>G (p.Gly4=) | |
6 | g.35805850C>T | CA450125601 | LHFPL5 | c.180C>T (p.Gly60=) c.12C>T (p.Gly4=) | |
6 | g.35805851T>A | CA363784438 | LHFPL5 | c.181T>A (p.Tyr61Asn) c.13T>A (p.Tyr5Asn) | |
6 | g.35805851T>C | CA3774351 | LHFPL5 | c.181T>C (p.Tyr61His) c.13T>C (p.Tyr5His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35805851T>G | CA363784437 | LHFPL5 | c.181T>G (p.Tyr61Asp) c.13T>G (p.Tyr5Asp) | |
6 | g.35805851T= | CA1621062581 | LHFPL5 | c.181T= (p.Tyr61=) c.13T= (p.Tyr5=) | |
6 | g.35805852A>C | CA363784440 | LHFPL5 | c.182A>C (p.Tyr61Ser) c.14A>C (p.Tyr5Ser) | |
6 | g.35805852A>G | CA363784439 | LHFPL5 | c.182A>G (p.Tyr61Cys) c.14A>G (p.Tyr5Cys) | |
6 | g.35805852A>T | CA363784441 | LHFPL5 | c.182A>T (p.Tyr61Phe) c.14A>T (p.Tyr5Phe) | |
6 | g.35805853C>A | CA363784442 | LHFPL5 | c.183C>A (p.Tyr61Ter) c.15C>A (p.Tyr5Ter) | gnomAD v4 |
6 | g.35805853C>G | CA363784443 | LHFPL5 | c.183C>G (p.Tyr61Ter) c.15C>G (p.Tyr5Ter) | |
6 | g.35805853C>T | CA450125604 | LHFPL5 | c.183C>T (p.Tyr61=) c.15C>T (p.Tyr5=) | |
6 | g.35805854T>A | CA363784444 | LHFPL5 | c.184T>A (p.Phe62Ile) c.16T>A (p.Phe6Ile) | |
6 | g.35805854T>C | CA363784445 | LHFPL5 | c.184T>C (p.Phe62Leu) c.16T>C (p.Phe6Leu) | |
6 | g.35805854T>G | CA363784446 | LHFPL5 | c.184T>G (p.Phe62Val) c.16T>G (p.Phe6Val) | |
6 | g.35805855del | CA2678432734 | LHFPL5 | c.185del (p.Phe62SerfsTer23) c.17del (p.Phe6SerfsTer23) | gnomAD v4 |
6 | g.35805855T>A | CA363784447 | LHFPL5 | c.185T>A (p.Phe62Tyr) c.17T>A (p.Phe6Tyr) | |
6 | g.35805855T>C | CA363784448 | LHFPL5 | c.185T>C (p.Phe62Ser) c.17T>C (p.Phe6Ser) | |
6 | g.35805855T>G | CA363784449 | LHFPL5 | c.185T>G (p.Phe62Cys) c.17T>G (p.Phe6Cys) | |
6 | g.35805856C>A | CA363784450 | LHFPL5 | c.186C>A (p.Phe62Leu) c.18C>A (p.Phe6Leu) | |
6 | g.35805856C= | CA1621062582 | LHFPL5 | c.186C= (p.Phe62=) c.18C= (p.Phe6=) | |
6 | g.35805856C>G | CA363784451 | LHFPL5 | c.186C>G (p.Phe62Leu) c.18C>G (p.Phe6Leu) | |
6 | g.35805856C>T | CA450125605 | LHFPL5 | c.186C>T (p.Phe62=) c.18C>T (p.Phe6=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.35805857G>A | CA3774352 | LHFPL5 | c.187G>A (p.Gly63Ser) c.19G>A (p.Gly7Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35805857G>C | CA363784452 | LHFPL5 | c.187G>C (p.Gly63Arg) c.19G>C (p.Gly7Arg) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.35805857G= | CA1621062583 | LHFPL5 | c.187G= (p.Gly63=) c.19G= (p.Gly7=) | |
6 | g.35805857G>T | CA363784453 | LHFPL5 | c.187G>T (p.Gly63Cys) c.19G>T (p.Gly7Cys) | |
6 | g.35805858G>A | CA363784456 | LHFPL5 | c.188G>A (p.Gly63Asp) c.20G>A (p.Gly7Asp) | dbSNP COSMIC |
6 | g.35805858G>C | CA363784455 | LHFPL5 | c.188G>C (p.Gly63Ala) c.20G>C (p.Gly7Ala) | |
6 | g.35805858G= | CA1621062584 | LHFPL5 | c.188G= (p.Gly63=) c.20G= (p.Gly7=) | |
6 | g.35805858G>T | CA363784454 | LHFPL5 | c.188G>T (p.Gly63Val) c.20G>T (p.Gly7Val) | |
6 | g.35805859C>A | CA450125606 | LHFPL5 | c.189C>A (p.Gly63=) c.21C>A (p.Gly7=) | |
6 | g.35805859C>G | CA450125607 | LHFPL5 | c.189C>G (p.Gly63=) c.21C>G (p.Gly7=) | |
6 | g.35805859C>T | CA450125608 | LHFPL5 | c.189C>T (p.Gly63=) c.21C>T (p.Gly7=) | |
6 | g.35805860C>A | CA363784457 | LHFPL5 | c.190C>A (p.Leu64Ile) c.22C>A (p.Leu8Ile) | |
6 | g.35805860C>G | CA363784458 | LHFPL5 | c.190C>G (p.Leu64Val) c.22C>G (p.Leu8Val) | |
6 | g.35805860C>T | CA363784459 | LHFPL5 | c.190C>T (p.Leu64Phe) c.22C>T (p.Leu8Phe) | |
6 | g.35805861T>A | CA363784460 | LHFPL5 | c.191T>A (p.Leu64His) c.23T>A (p.Leu8His) | |
6 | g.35805861T>C | CA363784461 | LHFPL5 | c.191T>C (p.Leu64Pro) c.23T>C (p.Leu8Pro) | |
6 | g.35805861T>G | CA363784462 | LHFPL5 | c.191T>G (p.Leu64Arg) c.23T>G (p.Leu8Arg) | |
6 | g.35805862T>A | CA450125609 | LHFPL5 | c.192T>A (p.Leu64=) c.24T>A (p.Leu8=) | |
6 | g.35805862T>C | CA450125610 | LHFPL5 | c.192T>C (p.Leu64=) c.24T>C (p.Leu8=) | |
6 | g.35805862T>G | CA450125611 | LHFPL5 | c.192T>G (p.Leu64=) c.24T>G (p.Leu8=) | |
6 | g.35805863T>A | CA363784463 | LHFPL5 | c.193T>A (p.Phe65Ile) c.25T>A (p.Phe9Ile) | |
6 | g.35805863T>C | CA363784464 | LHFPL5 | c.193T>C (p.Phe65Leu) c.25T>C (p.Phe9Leu) | |
6 | g.35805863T>G | CA363784465 | LHFPL5 | c.193T>G (p.Phe65Val) c.25T>G (p.Phe9Val) | |
6 | g.35805864T>A | CA363784466 | LHFPL5 | c.194T>A (p.Phe65Tyr) c.26T>A (p.Phe9Tyr) |