Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
8g.54626411A>GCA461098937RP1c.2529A>G (p.Ala843=)
c.787+4123A>G (n.787+4123A>G)
c.2550A>G (p.Ala850=)
8g.54626411A>TCA177237229RP1c.2529A>T (p.Ala843=)
c.787+4123A>T (n.787+4123A>T)
c.2550A>T (p.Ala850=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54626412T>ACA370994047RP1c.2530T>A (p.Ser844Thr)
c.787+4124T>A (n.787+4124T>A)
c.2551T>A (p.Ser851Thr)
8g.54626412T>CCA370994048RP1c.2530T>C (p.Ser844Pro)
c.787+4124T>C (n.787+4124T>C)
c.2551T>C (p.Ser851Pro)
8g.54626412T>GCA370994049RP1c.2530T>G (p.Ser844Ala)
c.787+4124T>G (n.787+4124T>G)
c.2551T>G (p.Ser851Ala)
8g.54626413C>ACA370994050RP1c.2531C>A (p.Ser844Tyr)
c.787+4125C>A (n.787+4125C>A)
c.2552C>A (p.Ser851Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.54626413C=CA1785188311RP1c.2531C= (p.Ser844=)
c.787+4125C= (n.787+4125C=)
c.2552C= (p.Ser851=)
8g.54626413C>GCA370994051RP1c.2531C>G (p.Ser844Cys)
c.787+4125C>G (n.787+4125C>G)
c.2552C>G (p.Ser851Cys)
8g.54626413C>TCA370994052RP1c.2531C>T (p.Ser844Phe)
c.787+4125C>T (n.787+4125C>T)
c.2552C>T (p.Ser851Phe)
 ClinVar dbSNP gnomAD v4 COSMIC
8g.54626414T>ACA461098938RP1c.2532T>A (p.Ser844=)
c.787+4126T>A (n.787+4126T>A)
c.2553T>A (p.Ser851=)
 COSMIC
8g.54626414T>CCA461098940RP1c.2532T>C (p.Ser844=)
c.787+4126T>C (n.787+4126T>C)
c.2553T>C (p.Ser851=)
8g.54626414T>GCA461098939RP1c.2532T>G (p.Ser844=)
c.787+4126T>G (n.787+4126T>G)
c.2553T>G (p.Ser851=)
8g.54626415G>ACA370994053RP1c.2533G>A (p.Gly845Arg)
c.787+4127G>A (n.787+4127G>A)
c.2554G>A (p.Gly852Arg)
 dbSNP gnomAD v3 gnomAD v4
8g.54626415G>CCA370994054RP1c.2533G>C (p.Gly845Arg)
c.787+4127G>C (n.787+4127G>C)
c.2554G>C (p.Gly852Arg)
8g.54626415G=CA1785188312RP1c.2533G= (p.Gly845=)
c.787+4127G= (n.787+4127G=)
c.2554G= (p.Gly852=)
8g.54626415G>TCA370994055RP1c.2533G>T (p.Gly845Trp)
c.787+4127G>T (n.787+4127G>T)
c.2554G>T (p.Gly852Trp)
8g.54626416G>ACA370994056RP1c.2534G>A (p.Gly845Glu)
c.787+4128G>A (n.787+4128G>A)
c.2555G>A (p.Gly852Glu)
8g.54626416G>CCA370994058RP1c.2534G>C (p.Gly845Ala)
c.787+4128G>C (n.787+4128G>C)
c.2555G>C (p.Gly852Ala)
8g.54626416G>TCA370994057RP1c.2534G>T (p.Gly845Val)
c.787+4128G>T (n.787+4128G>T)
c.2555G>T (p.Gly852Val)
8g.54626417G>ACA461098941RP1c.2535G>A (p.Gly845=)
c.787+4129G>A (n.787+4129G>A)
c.2556G>A (p.Gly852=)
8g.54626417G>CCA461098942RP1c.2535G>C (p.Gly845=)
c.787+4129G>C (n.787+4129G>C)
c.2556G>C (p.Gly852=)
8g.54626417G=CA1785188313RP1c.2535G= (p.Gly845=)
c.787+4129G= (n.787+4129G=)
c.2556G= (p.Gly852=)
8g.54626417G>TCA461098943RP1c.2535G>T (p.Gly845=)
c.787+4129G>T (n.787+4129G>T)
c.2556G>T (p.Gly852=)
 dbSNP gnomAD v4
8g.54626418T>ACA370994059RP1c.2536T>A (p.Tyr846Asn)
c.787+4130T>A (n.787+4130T>A)
c.2557T>A (p.Tyr853Asn)
8g.54626418T>CCA370994060RP1c.2536T>C (p.Tyr846His)
c.787+4130T>C (n.787+4130T>C)
c.2557T>C (p.Tyr853His)
8g.54626418T>GCA370994061RP1c.2536T>G (p.Tyr846Asp)
c.787+4130T>G (n.787+4130T>G)
c.2557T>G (p.Tyr853Asp)
8g.54626419A>CCA370994062RP1c.2537A>C (p.Tyr846Ser)
c.787+4131A>C (n.787+4131A>C)
c.2558A>C (p.Tyr853Ser)
8g.54626419A>GCA370994063RP1c.2537A>G (p.Tyr846Cys)
c.787+4131A>G (n.787+4131A>G)
c.2558A>G (p.Tyr853Cys)
 gnomAD v4
8g.54626419A>TCA370994064RP1c.2537A>T (p.Tyr846Phe)
c.787+4131A>T (n.787+4131A>T)
c.2558A>T (p.Tyr853Phe)
 gnomAD v4
8g.54626420T>ACA370994065RP1c.2538T>A (p.Tyr846Ter)
c.787+4132T>A (n.787+4132T>A)
c.2559T>A (p.Tyr853Ter)

Number of alleles fetched