| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.136207837G>A | CA414608384 | FHL1 | c.425G>A (p.Cys142Tyr) c.377G>A (p.Cys126Tyr) c.464G>A (p.Cys155Tyr) n.81G>A n.427G>A n.788G>A | |
| X | g.136207837G>C | CA414608385 | FHL1 | c.425G>C (p.Cys142Ser) c.377G>C (p.Cys126Ser) c.464G>C (p.Cys155Ser) n.81G>C n.427G>C n.788G>C | ClinVar |
| X | g.136207837G>T | CA414608386 | FHL1 | c.425G>T (p.Cys142Phe) c.377G>T (p.Cys126Phe) c.464G>T (p.Cys155Phe) n.81G>T n.427G>T n.788G>T | COSMIC COSMIC COSMIC COSMIC |
| X | g.136207838C>A | CA414608387 | FHL1 | c.426C>A (p.Cys142Ter) c.378C>A (p.Cys126Ter) c.465C>A (p.Cys155Ter) n.82C>A n.428C>A n.789C>A | |
| X | g.136207838C= | CA2460259455 | FHL1 | c.426C= (p.Cys142=) c.378C= (p.Cys126=) c.465C= (p.Cys155=) n.82C= n.428C= n.789C= | |
| X | g.136207838C>G | CA414608388 | FHL1 | c.426C>G (p.Cys142Trp) c.378C>G (p.Cys126Trp) c.465C>G (p.Cys155Trp) n.82C>G n.428C>G n.789C>G | |
| X | g.136207838C>T | CA10525008 | FHL1 | c.426C>T (p.Cys142=) c.378C>T (p.Cys126=) c.465C>T (p.Cys155=) n.82C>T n.428C>T n.789C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.136207839T>A | CA414608389 | FHL1 | c.427T>A (p.Phe143Ile) c.379T>A (p.Phe127Ile) c.466T>A (p.Phe156Ile) n.83T>A n.429T>A n.790T>A | |
| X | g.136207839T>C | CA414608390 | FHL1 | c.427T>C (p.Phe143Leu) c.379T>C (p.Phe127Leu) c.466T>C (p.Phe156Leu) n.83T>C n.429T>C n.790T>C | ClinVar dbSNP |
| X | g.136207839T>G | CA414608391 | FHL1 | c.427T>G (p.Phe143Val) c.379T>G (p.Phe127Val) c.466T>G (p.Phe156Val) n.83T>G n.429T>G n.790T>G | |
| X | g.136207839T= | CA2460259456 | FHL1 | c.427T= (p.Phe143=) c.379T= (p.Phe127=) c.466T= (p.Phe156=) n.83T= n.429T= n.790T= | |
| X | g.136207840T>A | CA414608392 | FHL1 | c.428T>A (p.Phe143Tyr) c.380T>A (p.Phe127Tyr) c.467T>A (p.Phe156Tyr) n.84T>A n.430T>A n.791T>A | |
| X | g.136207840T>C | CA414608393 | FHL1 | c.428T>C (p.Phe143Ser) c.380T>C (p.Phe127Ser) c.467T>C (p.Phe156Ser) n.84T>C n.430T>C n.791T>C | |
| X | g.136207840T>G | CA414608394 | FHL1 | c.428T>G (p.Phe143Cys) c.380T>G (p.Phe127Cys) c.467T>G (p.Phe156Cys) n.84T>G n.430T>G n.791T>G | |
| X | g.136207840_136207842dup | CA913184928 | FHL1 | c.428_430dup (p.Phe143_Thr144insIle) c.380_382dup (p.Phe127_Thr128insIle) c.467_469dup (p.Phe156_Thr157insIle) n.84_86dup n.430_432dup n.791_793dup | ClinVar dbSNP gnomAD v4 |
| X | g.136207841C>A | CA414608395 | FHL1 | c.429C>A (p.Phe143Leu) c.381C>A (p.Phe127Leu) c.468C>A (p.Phe156Leu) n.85C>A n.431C>A n.792C>A | |
| X | g.136207841C>G | CA414608396 | FHL1 | c.429C>G (p.Phe143Leu) c.381C>G (p.Phe127Leu) c.468C>G (p.Phe156Leu) n.85C>G n.431C>G n.792C>G | |
| X | g.136207841C>T | CA518489290 | FHL1 | c.429C>T (p.Phe143=) c.381C>T (p.Phe127=) c.468C>T (p.Phe156=) n.85C>T n.431C>T n.792C>T | ClinVar |
| X | g.136207842A>C | CA414608397 | FHL1 | c.430A>C (p.Thr144Pro) c.382A>C (p.Thr128Pro) c.469A>C (p.Thr157Pro) n.86A>C n.432A>C n.793A>C | |
| X | g.136207842A>G | CA414608398 | FHL1 | c.430A>G (p.Thr144Ala) c.382A>G (p.Thr128Ala) c.469A>G (p.Thr157Ala) n.86A>G n.432A>G n.793A>G | |
| X | g.136207842A>T | CA414608399 | FHL1 | c.430A>T (p.Thr144Ser) c.382A>T (p.Thr128Ser) c.469A>T (p.Thr157Ser) n.86A>T n.432A>T n.793A>T | |
| X | g.136207843C>A | CA414608402 | FHL1 | c.431C>A (p.Thr144Asn) c.383C>A (p.Thr128Asn) c.470C>A (p.Thr157Asn) n.87C>A n.433C>A n.794C>A | |
| X | g.136207843C>G | CA414608401 | FHL1 | c.431C>G (p.Thr144Ser) c.383C>G (p.Thr128Ser) c.470C>G (p.Thr157Ser) n.87C>G n.433C>G n.794C>G | |
| X | g.136207843C>T | CA414608400 | FHL1 | c.431C>T (p.Thr144Ile) c.383C>T (p.Thr128Ile) c.470C>T (p.Thr157Ile) n.87C>T n.433C>T n.794C>T | gnomAD v4 |
| X | g.136207844C>A | CA518489293 | FHL1 | c.432C>A (p.Thr144=) c.384C>A (p.Thr128=) c.471C>A (p.Thr157=) n.88C>A n.434C>A n.795C>A | COSMIC COSMIC COSMIC COSMIC |
| X | g.136207844C= | CA2460259457 | FHL1 | c.432C= (p.Thr144=) c.384C= (p.Thr128=) c.471C= (p.Thr157=) n.88C= n.434C= n.795C= | |
| X | g.136207844C>G | CA518489291 | FHL1 | c.432C>G (p.Thr144=) c.384C>G (p.Thr128=) c.471C>G (p.Thr157=) n.88C>G n.434C>G n.795C>G | ClinVar dbSNP gnomAD v4 |
| X | g.136207844C>T | CA518489292 | FHL1 | c.432C>T (p.Thr144=) c.384C>T (p.Thr128=) c.471C>T (p.Thr157=) n.88C>T n.434C>T n.795C>T | ClinVar dbSNP gnomAD v4 |
| X | g.136207845T>A | CA414608403 | FHL1 | c.433T>A (p.Cys145Ser) c.385T>A (p.Cys129Ser) c.472T>A (p.Cys158Ser) n.89T>A n.435T>A n.796T>A | |
| X | g.136207845T>C | CA414608405 | FHL1 | c.433T>C (p.Cys145Arg) c.385T>C (p.Cys129Arg) c.472T>C (p.Cys158Arg) n.89T>C n.435T>C n.796T>C | |
| X | g.136207845T>G | CA414608404 | FHL1 | c.433T>G (p.Cys145Gly) c.385T>G (p.Cys129Gly) c.472T>G (p.Cys158Gly) n.89T>G n.435T>G n.796T>G | |
| X | g.136207846G>A | CA414608406 | FHL1 | c.434G>A (p.Cys145Tyr) c.386G>A (p.Cys129Tyr) c.473G>A (p.Cys158Tyr) n.90G>A n.436G>A n.797G>A | |
| X | g.136207846G>C | CA414608407 | FHL1 | c.434G>C (p.Cys145Ser) c.386G>C (p.Cys129Ser) c.473G>C (p.Cys158Ser) n.90G>C n.436G>C n.797G>C | |
| X | g.136207846G>T | CA414608408 | FHL1 | c.434G>T (p.Cys145Phe) c.386G>T (p.Cys129Phe) c.473G>T (p.Cys158Phe) n.90G>T n.436G>T n.797G>T | |
| X | g.136207847T>A | CA414608409 | FHL1 | c.435T>A (p.Cys145Ter) c.387T>A (p.Cys129Ter) c.474T>A (p.Cys158Ter) n.91T>A n.437T>A n.798T>A | |
| X | g.136207847T>C | CA518489295 | FHL1 | c.435T>C (p.Cys145=) c.387T>C (p.Cys129=) c.474T>C (p.Cys158=) n.91T>C n.437T>C n.798T>C | |
| X | g.136207847T>G | CA414608410 | FHL1 | c.435T>G (p.Cys145Trp) c.387T>G (p.Cys129Trp) c.474T>G (p.Cys158Trp) n.91T>G n.437T>G n.798T>G | |
| X | g.136207848A= | CA2460259458 | FHL1 | c.436A= (p.Ser146=) c.388A= (p.Ser130=) c.475A= (p.Ser159=) n.92A= n.438A= n.799A= | |
| X | g.136207848A>C | CA414608411 | FHL1 | c.436A>C (p.Ser146Arg) c.388A>C (p.Ser130Arg) c.475A>C (p.Ser159Arg) n.92A>C n.438A>C n.799A>C | |
| X | g.136207848A>G | CA10583932 | FHL1 | c.436A>G (p.Ser146Gly) c.388A>G (p.Ser130Gly) c.475A>G (p.Ser159Gly) n.92A>G n.438A>G n.799A>G | ClinVar dbSNP gnomAD v4 |
| X | g.136207848A>T | CA414608412 | FHL1 | c.436A>T (p.Ser146Cys) c.388A>T (p.Ser130Cys) c.475A>T (p.Ser159Cys) n.92A>T n.438A>T n.799A>T | |
| X | g.136207849G>A | CA414608413 | FHL1 | c.437G>A (p.Ser146Asn) c.389G>A (p.Ser130Asn) c.476G>A (p.Ser159Asn) n.93G>A n.439G>A n.800G>A | |
| X | g.136207849G>C | CA414608414 | FHL1 | c.437G>C (p.Ser146Thr) c.389G>C (p.Ser130Thr) c.476G>C (p.Ser159Thr) n.93G>C n.439G>C n.800G>C | |
| X | g.136207849G>T | CA414608415 | FHL1 | c.437G>T (p.Ser146Ile) c.389G>T (p.Ser130Ile) c.476G>T (p.Ser159Ile) n.93G>T n.439G>T n.800G>T | |
| X | g.136207850T>A | CA414608416 | FHL1 | c.438T>A (p.Ser146Arg) c.390T>A (p.Ser130Arg) c.477T>A (p.Ser159Arg) n.94T>A n.440T>A n.801T>A | |
| X | g.136207850T>C | CA518489297 | FHL1 | c.438T>C (p.Ser146=) c.390T>C (p.Ser130=) c.477T>C (p.Ser159=) n.94T>C n.440T>C n.801T>C | |
| X | g.136207850T>G | CA414608417 | FHL1 | c.438T>G (p.Ser146Arg) c.390T>G (p.Ser130Arg) c.477T>G (p.Ser159Arg) n.94T>G n.440T>G n.801T>G | |
| X | g.136207851A= | CA2460259459 | FHL1 | c.439A= (p.Asn147=) c.391A= (p.Asn131=) c.478A= (p.Asn160=) n.95A= c.391A= n.441A= n.802A= | |
| X | g.136207851A>C | CA414608418 | FHL1 | c.439A>C (p.Asn147His) c.391A>C (p.Asn131His) c.478A>C (p.Asn160His) n.95A>C c.391A>C n.441A>C n.802A>C | |
| X | g.136207851A>G | CA414608420 | FHL1 | c.439A>G (p.Asn147Asp) c.391A>G (p.Asn131Asp) c.478A>G (p.Asn160Asp) n.95A>G c.391A>G n.441A>G n.802A>G | dbSNP gnomAD v3 gnomAD v4 |