Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54626397C>ACA370994014RP1c.2515C>A (p.Gln839Lys)
c.787+4109C>A (n.787+4109C>A)
c.2536C>A (p.Gln846Lys)
8g.54626397C>GCA370994015RP1c.2515C>G (p.Gln839Glu)
c.787+4109C>G (n.787+4109C>G)
c.2536C>G (p.Gln846Glu)
 gnomAD v4
8g.54626397C>TCA370994016RP1c.2515C>T (p.Gln839Ter)
c.787+4109C>T (n.787+4109C>T)
c.2536C>T (p.Gln846Ter)
 ClinVar dbSNP
8g.54626398A>CCA370994017RP1c.2516A>C (p.Gln839Pro)
c.787+4110A>C (n.787+4110A>C)
c.2537A>C (p.Gln846Pro)
 gnomAD v4 COSMIC
8g.54626398A>GCA370994018RP1c.2516A>G (p.Gln839Arg)
c.787+4110A>G (n.787+4110A>G)
c.2537A>G (p.Gln846Arg)
8g.54626398A>TCA370994019RP1c.2516A>T (p.Gln839Leu)
c.787+4110A>T (n.787+4110A>T)
c.2537A>T (p.Gln846Leu)
8g.54626399A>CCA370994020RP1c.2517A>C (p.Gln839His)
c.787+4111A>C (n.787+4111A>C)
c.2538A>C (p.Gln846His)
8g.54626399A>GCA461098931RP1c.2517A>G (p.Gln839=)
c.787+4111A>G (n.787+4111A>G)
c.2538A>G (p.Gln846=)
8g.54626399A>TCA370994021RP1c.2517A>T (p.Gln839His)
c.787+4111A>T (n.787+4111A>T)
c.2538A>T (p.Gln846His)
8g.54626400G>ACA370994022RP1c.2518G>A (p.Ala840Thr)
c.787+4112G>A (n.787+4112G>A)
c.2539G>A (p.Ala847Thr)
8g.54626400G>CCA370994023RP1c.2518G>C (p.Ala840Pro)
c.787+4112G>C (n.787+4112G>C)
c.2539G>C (p.Ala847Pro)
8g.54626400G>TCA370994024RP1c.2518G>T (p.Ala840Ser)
c.787+4112G>T (n.787+4112G>T)
c.2539G>T (p.Ala847Ser)
8g.54626401C>ACA370994025RP1c.2519C>A (p.Ala840Glu)
c.787+4113C>A (n.787+4113C>A)
c.2540C>A (p.Ala847Glu)
8g.54626401C>GCA370994026RP1c.2519C>G (p.Ala840Gly)
c.787+4113C>G (n.787+4113C>G)
c.2540C>G (p.Ala847Gly)
8g.54626401C>TCA370994027RP1c.2519C>T (p.Ala840Val)
c.787+4113C>T (n.787+4113C>T)
c.2540C>T (p.Ala847Val)
 gnomAD v4
8g.54626402A=CA1785188304RP1c.2520A= (p.Ala840=)
c.787+4114A= (n.787+4114A=)
c.2541A= (p.Ala847=)
8g.54626402A>CCA461098932RP1c.2520A>C (p.Ala840=)
c.787+4114A>C (n.787+4114A>C)
c.2541A>C (p.Ala847=)
8g.54626402A>GCA4751554RP1c.2520A>G (p.Ala840=)
c.787+4114A>G (n.787+4114A>G)
c.2541A>G (p.Ala847=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626402A>TCA461098933RP1c.2520A>T (p.Ala840=)
c.787+4114A>T (n.787+4114A>T)
c.2541A>T (p.Ala847=)
8g.54626403G>ACA370994028RP1c.2521G>A (p.Glu841Lys)
c.787+4115G>A (n.787+4115G>A)
c.2542G>A (p.Glu848Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54626403G>CCA370994029RP1c.2521G>C (p.Glu841Gln)
c.787+4115G>C (n.787+4115G>C)
c.2542G>C (p.Glu848Gln)
8g.54626403G=CA1785188305RP1c.2521G= (p.Glu841=)
c.787+4115G= (n.787+4115G=)
c.2542G= (p.Glu848=)
8g.54626403G>TCA370994030RP1c.2521G>T (p.Glu841Ter)
c.787+4115G>T (n.787+4115G>T)
c.2542G>T (p.Glu848Ter)
8g.54626404A>CCA370994031RP1c.2522A>C (p.Glu841Ala)
c.787+4116A>C (n.787+4116A>C)
c.2543A>C (p.Glu848Ala)
 gnomAD v4
8g.54626404A>GCA370994032RP1c.2522A>G (p.Glu841Gly)
c.787+4116A>G (n.787+4116A>G)
c.2543A>G (p.Glu848Gly)
8g.54626404A>TCA370994033RP1c.2522A>T (p.Glu841Val)
c.787+4116A>T (n.787+4116A>T)
c.2543A>T (p.Glu848Val)
 gnomAD v4
8g.54626405A=CA1785188306RP1c.2523A= (p.Glu841=)
c.787+4117A= (n.787+4117A=)
c.2544A= (p.Glu848=)
8g.54626405A>CCA370994034RP1c.2523A>C (p.Glu841Asp)
c.787+4117A>C (n.787+4117A>C)
c.2544A>C (p.Glu848Asp)
8g.54626405A>GCA4751555RP1c.2523A>G (p.Glu841=)
c.787+4117A>G (n.787+4117A>G)
c.2544A>G (p.Glu848=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626405A>TCA370994035RP1c.2523A>T (p.Glu841Asp)
c.787+4117A>T (n.787+4117A>T)
c.2544A>T (p.Glu848Asp)
8g.54626406G>ACA10631271RP1c.2524G>A (p.Val842Met)
c.787+4118G>A (n.787+4118G>A)
c.2545G>A (p.Val849Met)
 ClinVar dbSNP gnomAD v4
8g.54626406G>CCA370994036RP1c.2524G>C (p.Val842Leu)
c.787+4118G>C (n.787+4118G>C)
c.2545G>C (p.Val849Leu)
8g.54626406G=CA1785188307RP1c.2524G= (p.Val842=)
c.787+4118G= (n.787+4118G=)
c.2545G= (p.Val849=)
8g.54626406G>TCA370994037RP1c.2524G>T (p.Val842Leu)
c.787+4118G>T (n.787+4118G>T)
c.2545G>T (p.Val849Leu)
8g.54626407T>ACA370994040RP1c.2525T>A (p.Val842Glu)
c.787+4119T>A (n.787+4119T>A)
c.2546T>A (p.Val849Glu)
8g.54626407T>CCA370994039RP1c.2525T>C (p.Val842Ala)
c.787+4119T>C (n.787+4119T>C)
c.2546T>C (p.Val849Ala)
 gnomAD v4
8g.54626407T>GCA370994038RP1c.2525T>G (p.Val842Gly)
c.787+4119T>G (n.787+4119T>G)
c.2546T>G (p.Val849Gly)
 dbSNP
8g.54626407T=CA1785188308RP1c.2525T= (p.Val842=)
c.787+4119T= (n.787+4119T=)
c.2546T= (p.Val849=)
8g.54626408G>ACA461098935RP1c.2526G>A (p.Val842=)
c.787+4120G>A (n.787+4120G>A)
c.2547G>A (p.Val849=)
8g.54626408G>CCA461098936RP1c.2526G>C (p.Val842=)
c.787+4120G>C (n.787+4120G>C)
c.2547G>C (p.Val849=)
8g.54626408G>TCA461098934RP1c.2526G>T (p.Val842=)
c.787+4120G>T (n.787+4120G>T)
c.2547G>T (p.Val849=)
8g.54626409G>ACA370994041RP1c.2527G>A (p.Ala843Thr)
c.787+4121G>A (n.787+4121G>A)
c.2548G>A (p.Ala850Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54626409G>CCA370994043RP1c.2527G>C (p.Ala843Pro)
c.787+4121G>C (n.787+4121G>C)
c.2548G>C (p.Ala850Pro)
8g.54626409G=CA1785188309RP1c.2527G= (p.Ala843=)
c.787+4121G= (n.787+4121G=)
c.2548G= (p.Ala850=)
8g.54626409G>TCA370994042RP1c.2527G>T (p.Ala843Ser)
c.787+4121G>T (n.787+4121G>T)
c.2548G>T (p.Ala850Ser)
8g.54626410C>ACA370994044RP1c.2528C>A (p.Ala843Glu)
c.787+4122C>A (n.787+4122C>A)
c.2549C>A (p.Ala850Glu)
8g.54626410C>GCA370994045RP1c.2528C>G (p.Ala843Gly)
c.787+4122C>G (n.787+4122C>G)
c.2549C>G (p.Ala850Gly)
8g.54626410C>TCA370994046RP1c.2528C>T (p.Ala843Val)
c.787+4122C>T (n.787+4122C>T)
c.2549C>T (p.Ala850Val)
8g.54626411A=CA1785188310RP1c.2529A= (p.Ala843=)
c.787+4123A= (n.787+4123A=)
c.2550A= (p.Ala850=)
8g.54626411A>CCA4751556RP1c.2529A>C (p.Ala843=)
c.787+4123A>C (n.787+4123A>C)
c.2550A>C (p.Ala850=)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched