Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117602152_117612006delCA325806CFTRc.2620-674_3367+198del
c.2710-674_3457+198del
c.2377-674_3124+198del
n.2530-674_3277+198del
7g.117603633T>ACA368986675CFTRc.2759T>A (p.Val920Glu)
c.2849T>A (p.Val950Glu)
c.2516T>A (p.Val839Glu)
n.2669T>A (p.Val890Glu)
7g.117603633T>CCA368986677CFTRc.2759T>C (p.Val920Ala)
c.2849T>C (p.Val950Ala)
c.2516T>C (p.Val839Ala)
n.2669T>C (p.Val890Ala)
7g.117603633T>GCA368986679CFTRc.2759T>G (p.Val920Gly)
c.2849T>G (p.Val950Gly)
c.2516T>G (p.Val839Gly)
n.2669T>G (p.Val890Gly)
7g.117603634G>ACA457227952CFTRc.2760G>A (p.Val920=)
c.2850G>A (p.Val950=)
c.2517G>A (p.Val839=)
n.2670G>A (p.Val890=)
gnomAD
7g.117603634G>CCA457227953CFTRc.2760G>C (p.Val920=)
c.2850G>C (p.Val950=)
c.2517G>C (p.Val839=)
n.2670G>C (p.Val890=)
7g.117603634G>TCA457227954CFTRc.2760G>T (p.Val920=)
c.2850G>T (p.Val950=)
c.2517G>T (p.Val839=)
n.2670G>T (p.Val890=)
7g.117603636delCA4451283CFTRc.2762del (p.Gly921GlufsTer2)
c.2852del (p.Gly951GlufsTer2)
c.2519del (p.Gly840GlufsTer2)
n.2672del (p.Gly891GlufsTer2)
dbSNP ExAC gnomAD
7g.117603635G>ACA4451284CFTRc.2761G>A (p.Gly921Arg)
c.2851G>A (p.Gly951Arg)
c.2518G>A (p.Gly840Arg)
n.2671G>A (p.Gly891Arg)
dbSNP ExAC gnomAD
7g.117603635G>CCA368986680CFTRc.2761G>C (p.Gly921Arg)
c.2851G>C (p.Gly951Arg)
c.2518G>C (p.Gly840Arg)
n.2671G>C (p.Gly891Arg)
7g.117603635G>TCA368986681CFTRc.2761G>T (p.Gly921Ter)
c.2851G>T (p.Gly951Ter)
c.2518G>T (p.Gly840Ter)
n.2671G>T (p.Gly891Ter)
7g.117603636G>ACA260220CFTRc.2762G>A (p.Gly921Glu)
c.2852G>A (p.Gly951Glu)
c.2519G>A (p.Gly840Glu)
n.2672G>A (p.Gly891Glu)
ClinVar dbSNP gnomAD COSMIC
7g.117603636G>CCA368986682CFTRc.2762G>C (p.Gly921Ala)
c.2852G>C (p.Gly951Ala)
c.2519G>C (p.Gly840Ala)
n.2672G>C (p.Gly891Ala)
7g.117603636G>TCA368986685CFTRc.2762G>T (p.Gly921Val)
c.2852G>T (p.Gly951Val)
c.2519G>T (p.Gly840Val)
n.2672G>T (p.Gly891Val)
7g.117603637_117603638dupCA326920CFTRc.2763_2764dup (p.Val922GlufsTer2)
c.2853_2854dup (p.Val952GlufsTer2)
c.2520_2521dup (p.Val841GlufsTer2)
n.2673_2674dup (p.Val892GlufsTer2)
ClinVar dbSNP gnomAD
7g.117603637A>CCA457227955CFTRc.2763A>C (p.Gly921=)
c.2853A>C (p.Gly951=)
c.2520A>C (p.Gly840=)
n.2673A>C (p.Gly891=)
7g.117603637A>GCA457227956CFTRc.2763A>G (p.Gly921=)
c.2853A>G (p.Gly951=)
c.2520A>G (p.Gly840=)
n.2673A>G (p.Gly891=)
7g.117603637A>TCA457227957CFTRc.2763A>T (p.Gly921=)
c.2853A>T (p.Gly951=)
c.2520A>T (p.Gly840=)
n.2673A>T (p.Gly891=)
7g.117603638G>ACA368986694CFTRc.2764G>A (p.Val922Ile)
c.2854G>A (p.Val952Ile)
c.2521G>A (p.Val841Ile)
n.2674G>A (p.Val892Ile)
COSMIC
7g.117603638G>CCA368986689CFTRc.2764G>C (p.Val922Leu)
c.2854G>C (p.Val952Leu)
c.2521G>C (p.Val841Leu)
n.2674G>C (p.Val892Leu)
7g.117603638G>TCA368986692CFTRc.2764G>T (p.Val922Leu)
c.2854G>T (p.Val952Leu)
c.2521G>T (p.Val841Leu)
n.2674G>T (p.Val892Leu)
7g.117603639T>ACA368986697CFTRc.2765T>A (p.Val922Glu)
c.2855T>A (p.Val952Glu)
c.2522T>A (p.Val841Glu)
n.2675T>A (p.Val892Glu)
7g.117603639T>CCA368986699CFTRc.2765T>C (p.Val922Ala)
c.2855T>C (p.Val952Ala)
c.2522T>C (p.Val841Ala)
n.2675T>C (p.Val892Ala)
7g.117603639T>GCA368986702CFTRc.2765T>G (p.Val922Gly)
c.2855T>G (p.Val952Gly)
c.2522T>G (p.Val841Gly)
n.2675T>G (p.Val892Gly)
gnomAD
7g.117603640A>CCA457227958CFTRc.2766A>C (p.Val922=)
c.2856A>C (p.Val952=)
c.2523A>C (p.Val841=)
n.2676A>C (p.Val892=)
7g.117603640A>GCA4451285CFTRc.2766A>G (p.Val922=)
c.2856A>G (p.Val952=)
c.2523A>G (p.Val841=)
n.2676A>G (p.Val892=)
ClinVar dbSNP ExAC gnomAD
7g.117603640A>TCA457227959CFTRc.2766A>T (p.Val922=)
c.2856A>T (p.Val952=)
c.2523A>T (p.Val841=)
n.2676A>T (p.Val892=)
7g.117603641G>ACA368986708CFTRc.2767G>A (p.Ala923Thr)
c.2857G>A (p.Ala953Thr)
c.2524G>A (p.Ala842Thr)
n.2677G>A (p.Ala893Thr)
7g.117603641G>CCA368986710CFTRc.2767G>C (p.Ala923Pro)
c.2857G>C (p.Ala953Pro)
c.2524G>C (p.Ala842Pro)
n.2677G>C (p.Ala893Pro)
7g.117603641G>TCA368986713CFTRc.2767G>T (p.Ala923Ser)
c.2857G>T (p.Ala953Ser)
c.2524G>T (p.Ala842Ser)
n.2677G>T (p.Ala893Ser)
7g.117603642C>ACA260222CFTRc.2768C>A (p.Ala923Asp)
c.2858C>A (p.Ala953Asp)
c.2525C>A (p.Ala842Asp)
n.2678C>A (p.Ala893Asp)
ClinVar dbSNP
7g.117603642C>GCA368986716CFTRc.2768C>G (p.Ala923Gly)
c.2858C>G (p.Ala953Gly)
c.2525C>G (p.Ala842Gly)
n.2678C>G (p.Ala893Gly)
7g.117603642C>TCA368986719CFTRc.2768C>T (p.Ala923Val)
c.2858C>T (p.Ala953Val)
c.2525C>T (p.Ala842Val)
n.2678C>T (p.Ala893Val)
7g.117603643C>ACA457227960CFTRc.2769C>A (p.Ala923=)
c.2859C>A (p.Ala953=)
c.2526C>A (p.Ala842=)
n.2679C>A (p.Ala893=)
7g.117603643C>GCA457227961CFTRc.2769C>G (p.Ala923=)
c.2859C>G (p.Ala953=)
c.2526C>G (p.Ala842=)
n.2679C>G (p.Ala893=)
7g.117603643C>TCA221014CFTRc.2769C>T (p.Ala923=)
c.2859C>T (p.Ala953=)
c.2526C>T (p.Ala842=)
n.2679C>T (p.Ala893=)
ClinVar dbSNP ExAC gnomAD
7g.117603644G>ACA326923CFTRc.2770G>A (p.Asp924Asn)
c.2860G>A (p.Asp954Asn)
c.2527G>A (p.Asp843Asn)
n.2680G>A (p.Asp894Asn)
ClinVar dbSNP ExAC gnomAD COSMIC
7g.117603644G>CCA368986725CFTRc.2770G>C (p.Asp924His)
c.2860G>C (p.Asp954His)
c.2527G>C (p.Asp843His)
n.2680G>C (p.Asp894His)
ClinVar
7g.117603644G>TCA368986723CFTRc.2770G>T (p.Asp924Tyr)
c.2860G>T (p.Asp954Tyr)
c.2527G>T (p.Asp843Tyr)
n.2680G>T (p.Asp894Tyr)
7g.117603645A>CCA368986727CFTRc.2771A>C (p.Asp924Ala)
c.2861A>C (p.Asp954Ala)
c.2528A>C (p.Asp843Ala)
n.2681A>C (p.Asp894Ala)
7g.117603645A>GCA368986729CFTRc.2771A>G (p.Asp924Gly)
c.2861A>G (p.Asp954Gly)
c.2528A>G (p.Asp843Gly)
n.2681A>G (p.Asp894Gly)
COSMIC
7g.117603645A>TCA368986731CFTRc.2771A>T (p.Asp924Val)
c.2861A>T (p.Asp954Val)
c.2528A>T (p.Asp843Val)
n.2681A>T (p.Asp894Val)
7g.117603646C>ACA368986737CFTRc.2772C>A (p.Asp924Glu)
c.2862C>A (p.Asp954Glu)
c.2529C>A (p.Asp843Glu)
n.2682C>A (p.Asp894Glu)
ClinVar COSMIC
7g.117603646C>GCA368986740CFTRc.2772C>G (p.Asp924Glu)
c.2862C>G (p.Asp954Glu)
c.2529C>G (p.Asp843Glu)
n.2682C>G (p.Asp894Glu)
7g.117603646C>TCA457227962CFTRc.2772C>T (p.Asp924=)
c.2862C>T (p.Asp954=)
c.2529C>T (p.Asp843=)
n.2682C>T (p.Asp894=)
7g.117603647A>CCA368986742CFTRc.2773A>C (p.Thr925Pro)
c.2863A>C (p.Thr955Pro)
c.2530A>C (p.Thr844Pro)
n.2683A>C (p.Thr895Pro)
7g.117603647A>GCA368986746CFTRc.2773A>G (p.Thr925Ala)
c.2863A>G (p.Thr955Ala)
c.2530A>G (p.Thr844Ala)
n.2683A>G (p.Thr895Ala)
7g.117603647A>TCA368986749CFTRc.2773A>T (p.Thr925Ser)
c.2863A>T (p.Thr955Ser)
c.2530A>T (p.Thr844Ser)
n.2683A>T (p.Thr895Ser)
7g.117603648C>ACA368986752CFTRc.2774C>A (p.Thr925Asn)
c.2864C>A (p.Thr955Asn)
c.2531C>A (p.Thr844Asn)
n.2684C>A (p.Thr895Asn)
gnomAD
7g.117603648C>GCA368986755CFTRc.2774C>G (p.Thr925Ser)
c.2864C>G (p.Thr955Ser)
c.2531C>G (p.Thr844Ser)
n.2684C>G (p.Thr895Ser)

Number of alleles fetched