Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117602148_117612002delCA325806
7g.117604867_117612068delCA913190213 ClinVar
7g.117606672_117611806delCA913190200 ClinVar
7g.117607922_117616820delCA1139532136
7g.117609540_117612054delCA325807 ClinVar
7g.117609611_117610615delinsGACAGCA915945433 ClinVar
7g.117610515_117611804delCA913189830 ClinVar
7g.117610517_117610667delCA326999 ClinVar dbSNP
7g.117610518_117614712delCA913189831 ClinVar
7g.117610567C>ACA368990544CFTRc.3037C>A (p.Pro1013Thr)
n.2947C>A (p.Pro983Thr)
c.3127C>A (p.Pro1043Thr)
c.2794C>A (p.Pro932Thr)
7g.117610567C>GCA368990547CFTRc.3037C>G (p.Pro1013Ala)
n.2947C>G (p.Pro983Ala)
c.3127C>G (p.Pro1043Ala)
c.2794C>G (p.Pro932Ala)
7g.117610567C>TCA164965144CFTRc.3037C>T (p.Pro1013Ser)
n.2947C>T (p.Pro983Ser)
c.3127C>T (p.Pro1043Ser)
c.2794C>T (p.Pro932Ser)
ClinVar dbSNP
7g.117610569dupCA327023CFTRc.3039dup (p.Tyr1014LeufsTer?)
n.2949dup (p.Tyr984LeufsTer?)
c.3129dup (p.Tyr1044LeufsTer?)
c.2796dup (p.Tyr933LeufsTer?)
ClinVar dbSNP dbSNP
7g.117610567delCA327024CFTRc.3037del (p.Tyr1014ThrfsTer9)
n.2947del (p.Tyr984ThrfsTer9)
c.3127del (p.Tyr1044ThrfsTer9)
c.2794del (p.Tyr933ThrfsTer9)
ClinVar dbSNP
7g.117610568C>ACA260231CFTRc.3038C>A (p.Pro1013His)
n.2948C>A (p.Pro983His)
c.3128C>A (p.Pro1043His)
c.2795C>A (p.Pro932His)
ClinVar dbSNP ExAC gnomAD
7g.117610568C>GCA4451368CFTRc.3038C>G (p.Pro1013Arg)
n.2948C>G (p.Pro983Arg)
c.3128C>G (p.Pro1043Arg)
c.2795C>G (p.Pro932Arg)
dbSNP ExAC gnomAD
7g.117610568C>TCA327022CFTRc.3038C>T (p.Pro1013Leu)
n.2948C>T (p.Pro983Leu)
c.3128C>T (p.Pro1043Leu)
c.2795C>T (p.Pro932Leu)
ClinVar dbSNP ExAC gnomAD
7g.117610569C>ACA457229384CFTRc.3039C>A (p.Pro1013=)
n.2949C>A (p.Pro983=)
c.3129C>A (p.Pro1043=)
c.2796C>A (p.Pro932=)
7g.117610569C>GCA457229385CFTRc.3039C>G (p.Pro1013=)
n.2949C>G (p.Pro983=)
c.3129C>G (p.Pro1043=)
c.2796C>G (p.Pro932=)
ClinVar
7g.117610569C>TCA457229386CFTRc.3039C>T (p.Pro1013=)
n.2949C>T (p.Pro983=)
c.3129C>T (p.Pro1043=)
c.2796C>T (p.Pro932=)
7g.117610569_117610571delCA915945435CFTRc.3039_3041del (p.Tyr1014del)
n.2949_2951del (p.Tyr984del)
c.3129_3131del (p.Tyr1044del)
c.2796_2798del (p.Tyr933del)
ClinVar dbSNP
7g.117610570T>ACA368990558CFTRc.3040T>A (p.Tyr1014Asn)
n.2950T>A (p.Tyr984Asn)
c.3130T>A (p.Tyr1044Asn)
c.2797T>A (p.Tyr933Asn)
7g.117610570T>CCA164965162CFTRc.3040T>C (p.Tyr1014His)
n.2950T>C (p.Tyr984His)
c.3130T>C (p.Tyr1044His)
c.2797T>C (p.Tyr933His)
dbSNP
7g.117610570T>GCA368990561CFTRc.3040T>G (p.Tyr1014Asp)
n.2950T>G (p.Tyr984Asp)
c.3130T>G (p.Tyr1044Asp)
c.2797T>G (p.Tyr933Asp)
7g.117610571A>CCA368990568CFTRc.3041A>C (p.Tyr1014Ser)
n.2951A>C (p.Tyr984Ser)
c.3131A>C (p.Tyr1044Ser)
c.2798A>C (p.Tyr933Ser)
7g.117610571A>GCA233700CFTRc.3041A>G (p.Tyr1014Cys)
n.2951A>G (p.Tyr984Cys)
c.3131A>G (p.Tyr1044Cys)
c.2798A>G (p.Tyr933Cys)
ClinVar dbSNP ExAC gnomAD
7g.117610571A>TCA368990566CFTRc.3041A>T (p.Tyr1014Phe)
n.2951A>T (p.Tyr984Phe)
c.3131A>T (p.Tyr1044Phe)
c.2798A>T (p.Tyr933Phe)
7g.117610571_117610572delCA327026CFTRc.3041_3042del (p.Ile1015LeufsTer?)
n.2951_2952del (p.Ile985LeufsTer?)
c.3131_3132del (p.Ile1045LeufsTer?)
c.2798_2799del (p.Ile934LeufsTer?)
dbSNP
7g.117610572C>ACA368990573CFTRc.3042C>A (p.Tyr1014Ter)
n.2952C>A (p.Tyr984Ter)
c.3132C>A (p.Tyr1044Ter)
c.2799C>A (p.Tyr933Ter)
7g.117610572C>GCA368990574CFTRc.3042C>G (p.Tyr1014Ter)
n.2952C>G (p.Tyr984Ter)
c.3132C>G (p.Tyr1044Ter)
c.2799C>G (p.Tyr933Ter)
7g.117610572C>TCA457229387CFTRc.3042C>T (p.Tyr1014=)
n.2952C>T (p.Tyr984=)
c.3132C>T (p.Tyr1044=)
c.2799C>T (p.Tyr933=)
7g.117610573A>CCA368990578CFTRc.3043A>C (p.Ile1015Leu)
n.2953A>C (p.Ile985Leu)
c.3133A>C (p.Ile1045Leu)
c.2800A>C (p.Ile934Leu)
7g.117610573A>GCA368990579CFTRc.3043A>G (p.Ile1015Val)
n.2953A>G (p.Ile985Val)
c.3133A>G (p.Ile1045Val)
c.2800A>G (p.Ile934Val)
7g.117610573A>TCA368990581CFTRc.3043A>T (p.Ile1015Phe)
n.2953A>T (p.Ile985Phe)
c.3133A>T (p.Ile1045Phe)
c.2800A>T (p.Ile934Phe)
7g.117610574T>ACA368990584CFTRc.3044T>A (p.Ile1015Asn)
n.2954T>A (p.Ile985Asn)
c.3134T>A (p.Ile1045Asn)
c.2801T>A (p.Ile934Asn)
7g.117610574T>CCA368990586CFTRc.3044T>C (p.Ile1015Thr)
n.2954T>C (p.Ile985Thr)
c.3134T>C (p.Ile1045Thr)
c.2801T>C (p.Ile934Thr)
7g.117610574T>GCA368990588CFTRc.3044T>G (p.Ile1015Ser)
n.2954T>G (p.Ile985Ser)
c.3134T>G (p.Ile1045Ser)
c.2801T>G (p.Ile934Ser)
7g.117610575C>ACA457229389CFTRc.3045C>A (p.Ile1015=)
n.2955C>A (p.Ile985=)
c.3135C>A (p.Ile1045=)
c.2802C>A (p.Ile934=)
7g.117610575C>GCA368990591CFTRc.3045C>G (p.Ile1015Met)
n.2955C>G (p.Ile985Met)
c.3135C>G (p.Ile1045Met)
c.2802C>G (p.Ile934Met)
7g.117610575C>TCA457229388CFTRc.3045C>T (p.Ile1015=)
n.2955C>T (p.Ile985=)
c.3135C>T (p.Ile1045=)
c.2802C>T (p.Ile934=)
COSMIC
7g.117610576T>ACA368990594CFTRc.3046T>A (p.Phe1016Ile)
n.2956T>A (p.Phe986Ile)
c.3136T>A (p.Phe1046Ile)
c.2803T>A (p.Phe935Ile)
7g.117610576T>CCA368990596CFTRc.3046T>C (p.Phe1016Leu)
n.2956T>C (p.Phe986Leu)
c.3136T>C (p.Phe1046Leu)
c.2803T>C (p.Phe935Leu)
7g.117610576T>GCA368990598CFTRc.3046T>G (p.Phe1016Val)
n.2956T>G (p.Phe986Val)
c.3136T>G (p.Phe1046Val)
c.2803T>G (p.Phe935Val)
7g.117610577T>ACA368990606CFTRc.3047T>A (p.Phe1016Tyr)
n.2957T>A (p.Phe986Tyr)
c.3137T>A (p.Phe1046Tyr)
c.2804T>A (p.Phe935Tyr)
7g.117610577T>CCA327027CFTRc.3047T>C (p.Phe1016Ser)
n.2957T>C (p.Phe986Ser)
c.3137T>C (p.Phe1046Ser)
c.2804T>C (p.Phe935Ser)
ClinVar dbSNP ExAC gnomAD
7g.117610577T>GCA368990602CFTRc.3047T>G (p.Phe1016Cys)
n.2957T>G (p.Phe986Cys)
c.3137T>G (p.Phe1046Cys)
c.2804T>G (p.Phe935Cys)
7g.117610578T>ACA368990608CFTRc.3048T>A (p.Phe1016Leu)
n.2958T>A (p.Phe986Leu)
c.3138T>A (p.Phe1046Leu)
c.2805T>A (p.Phe935Leu)
7g.117610578T>CCA457229390CFTRc.3048T>C (p.Phe1016=)
n.2958T>C (p.Phe986=)
c.3138T>C (p.Phe1046=)
c.2805T>C (p.Phe935=)
7g.117610578T>GCA368990611CFTRc.3048T>G (p.Phe1016Leu)
n.2958T>G (p.Phe986Leu)
c.3138T>G (p.Phe1046Leu)
c.2805T>G (p.Phe935Leu)
7g.117610579G>ACA368990613CFTRc.3049G>A (p.Val1017Ile)
n.2959G>A (p.Val987Ile)
c.3139G>A (p.Val1047Ile)
c.2806G>A (p.Val936Ile)

Number of alleles fetched