Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.69035772_69035877del | CA2690187648 | FXN | c.-11_95del | gnomAD v4 |
9 | g.69035812C>A | CA465233053 | FXN | c.30C>A (p.Ala10=) c.28C>A | dbSNP gnomAD v4 |
9 | g.69035812C= | CA1854034931 | FXN | c.30C= (p.Ala10=) c.28C= | |
9 | g.69035812C>G | CA465233051 | FXN | c.30C>G (p.Ala10=) c.28C>G | gnomAD v4 |
9 | g.69035812C>T | CA193368957 | FXN | c.30C>T (p.Ala10=) c.28C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035813G>A | CA373527289 | FXN | c.31G>A (p.Gly11Ser) c.29G>A | dbSNP gnomAD v4 |
9 | g.69035813G>C | CA373527290 | FXN | c.31G>C (p.Gly11Arg) c.29G>C | |
9 | g.69035813G= | CA1854034932 | FXN | c.31G= (p.Gly11=) c.29G= | |
9 | g.69035813G>T | CA373527291 | FXN | c.31G>T (p.Gly11Cys) c.29G>T | gnomAD v4 |
9 | g.69035814G>A | CA373527292 | FXN | c.32G>A (p.Gly11Asp) c.30G>A | gnomAD v4 |
9 | g.69035814G>C | CA373527293 | FXN | c.32G>C (p.Gly11Ala) c.30G>C | |
9 | g.69035814G= | CA1854034933 | FXN | c.32G= (p.Gly11=) c.30G= | |
9 | g.69035814G>T | CA373527294 | FXN | c.32G>T (p.Gly11Val) c.30G>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035815C>A | CA465233065 | FXN | c.33C>A (p.Gly11=) c.31C>A | gnomAD v4 |
9 | g.69035815C= | CA1854034934 | FXN | c.33C= (p.Gly11=) c.31C= | |
9 | g.69035815C>G | CA465233069 | FXN | c.33C>G (p.Gly11=) c.31C>G | |
9 | g.69035815C>T | CA465233067 | FXN | c.33C>T (p.Gly11=) c.31C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035816C>A | CA373527295 | FXN | c.34C>A (p.Leu12Ile) c.32C>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035816C= | CA1854034935 | FXN | c.34C= (p.Leu12=) c.32C= | |
9 | g.69035816C>G | CA373527297 | FXN | c.34C>G (p.Leu12Val) c.32C>G | ClinVar dbSNP gnomAD v4 |
9 | g.69035816C>T | CA373527296 | FXN | c.34C>T (p.Leu12Phe) c.32C>T | |
9 | g.69035817T>A | CA373527298 | FXN | c.35T>A (p.Leu12His) c.33T>A | |
9 | g.69035817T>C | CA373527299 | FXN | c.35T>C (p.Leu12Pro) c.33T>C | gnomAD v4 |
9 | g.69035817T>G | CA373527300 | FXN | c.35T>G (p.Leu12Arg) c.33T>G | |
9 | g.69035818C>A | CA465233079 | FXN | c.36C>A (p.Leu12=) c.34C>A | gnomAD v4 |
9 | g.69035818C= | CA1854034936 | FXN | c.36C= (p.Leu12=) c.34C= | |
9 | g.69035818C>G | CA465233083 | FXN | c.36C>G (p.Leu12=) c.34C>G | |
9 | g.69035818C>T | CA465233081 | FXN | c.36C>T (p.Leu12=) c.34C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035819C>A | CA373527301 | FXN | c.37C>A (p.Leu13Met) c.35C>A | |
9 | g.69035819C>G | CA373527302 | FXN | c.37C>G (p.Leu13Val) c.35C>G | |
9 | g.69035819C>T | CA465233087 | FXN | c.37C>T (p.Leu13=) c.35C>T | gnomAD v4 |
9 | g.69035820T>A | CA373527303 | FXN | c.38T>A (p.Leu13Gln) c.36T>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035820T>C | CA373527304 | FXN | c.38T>C (p.Leu13Pro) c.36T>C | gnomAD v4 |
9 | g.69035820T>G | CA373527305 | FXN | c.38T>G (p.Leu13Arg) c.36T>G | |
9 | g.69035820T= | CA1854034937 | FXN | c.38T= (p.Leu13=) c.36T= | |
9 | g.69035821G>A | CA465233096 | FXN | c.39G>A (p.Leu13=) c.37G>A | gnomAD v4 |
9 | g.69035821G>C | CA465233098 | FXN | c.39G>C (p.Leu13=) c.37G>C | |
9 | g.69035821G>T | CA465233095 | FXN | c.39G>T (p.Leu13=) c.37G>T | gnomAD v4 |
9 | g.69035822del | CA2690187673 | FXN | c.40del (p.Ala14ArgfsTer?) c.38del | gnomAD v4 |
9 | g.69035822G>A | CA373527306 | FXN | c.40G>A (p.Ala14Thr) c.38G>A | gnomAD v4 |
9 | g.69035822G>C | CA373527307 | FXN | c.40G>C (p.Ala14Pro) c.38G>C | |
9 | g.69035822G>T | CA373527308 | FXN | c.40G>T (p.Ala14Ser) c.38G>T | |
9 | g.69035823C>A | CA5072635 | FXN | c.41C>A (p.Ala14Glu) c.39C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035823C= | CA1854034938 | FXN | c.41C= (p.Ala14=) c.39C= | |
9 | g.69035823C>G | CA373527310 | FXN | c.41C>G (p.Ala14Gly) c.39C>G | |
9 | g.69035823C>T | CA373527309 | FXN | c.41C>T (p.Ala14Val) c.39C>T | ClinVar gnomAD v4 |
9 | g.69035824G>A | CA465233111 | FXN | c.42G>A (p.Ala14=) c.40G>A | gnomAD v4 |
9 | g.69035824G>C | CA465233110 | FXN | c.42G>C (p.Ala14=) c.40G>C | gnomAD v4 |
9 | g.69035824G>T | CA465233113 | FXN | c.42G>T (p.Ala14=) c.40G>T | gnomAD v4 |
9 | g.69035824dup | CA2690187674 | FXN | c.42dup (p.Ser15ValfsTer?) c.40dup | gnomAD v4 |