Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.153870334_153870382delinsTCTTGATCTGTGTCGCCTTTTCCCTGGGGTTTTCCCTTCGCATTCCATCCTCCCTGAGCTTTCTGCTTCCTGAGCGCTCTCCTCA2697544837L1CAMc.806+6_806+54delinsAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCGAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGA (n.806+6_806+54delinsAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCGAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGA)
c.791+6_791+54delinsAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCGAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGA (n.791+6_791+54delinsAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCGAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGA)
 ClinVar
Xg.153870347_153870352delinsACCCTGCA2466507121L1CAMc.806+36_806+41delinsCAGGGT (n.806+36_806+41delinsCAGGGT)
c.791+36_791+41delinsCAGGGT (n.791+36_791+41delinsCAGGGT)
Xg.153870368_153870372dupCA10554496L1CAMc.806+36_806+40dup (n.806+36_806+40dup)
c.791+36_791+40dup (n.791+36_791+40dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870363_153870372dupCA10554497L1CAMc.806+31_806+40dup (n.806+31_806+40dup)
c.791+31_791+40dup (n.791+31_791+40dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870368_153870372delCA645152269L1CAMc.806+36_806+40del (n.806+36_806+40del)
c.791+36_791+40del (n.791+36_791+40del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870363_153870372delCA2579732994L1CAMc.806+31_806+40del (n.806+31_806+40del)
c.791+31_791+40del (n.791+31_791+40del)
 gnomAD v4
Xg.153870352G>ACA2579732995L1CAMc.806+36C>T (n.806+36C>T)
c.791+36C>T (n.791+36C>T)
Xg.153870352G>TCA2579732996L1CAMc.806+36C>A (n.806+36C>A)
c.791+36C>A (n.791+36C>A)
 gnomAD v4
Xg.153870352_153870353delinsGCCA2466507124L1CAMc.806+35_806+36delinsGC (n.806+35_806+36delinsGC)
c.791+35_791+36delinsGC (n.791+35_791+36delinsGC)
Xg.153870353C=CA2466507125L1CAMc.806+35G= (n.806+35G=)
c.791+35G= (n.791+35G=)
Xg.153870353C>GCA645152270L1CAMc.806+35G>C (n.806+35G>C)
c.791+35G>C (n.791+35G>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.153870353C>TCA2695068615L1CAMc.806+35G>A (n.806+35G>A)
c.791+35G>A (n.791+35G>A)
 gnomAD v4
Xg.153870355delCA1138548904L1CAMc.806+35del (n.806+35del)
c.791+35del (n.791+35del)
 dbSNP gnomAD v3 gnomAD v4
Xg.153870355C=CA2466507126L1CAMc.806+33G= (n.806+33G=)
c.791+33G= (n.791+33G=)
Xg.153870355C>GCA645152273L1CAMc.806+33G>C (n.806+33G>C)
c.791+33G>C (n.791+33G>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.153870355C>TCA2579732997L1CAMc.806+33G>A (n.806+33G>A)
c.791+33G>A (n.791+33G>A)
Xg.153870356T>ACA2579732998L1CAMc.806+32A>T (n.806+32A>T)
c.791+32A>T (n.791+32A>T)
Xg.153870357G>TCA2579732999L1CAMc.806+31C>A (n.806+31C>A)
c.791+31C>A (n.791+31C>A)
Xg.153870359C=CA2466507127L1CAMc.806+29G= (n.806+29G=)
c.791+29G= (n.791+29G=)
Xg.153870359C>GCA2466507128L1CAMc.806+29G>C (n.806+29G>C)
c.791+29G>C (n.791+29G>C)
 dbSNP gnomAD v4
Xg.153870359C>TCA658515073L1CAMc.806+29G>A (n.806+29G>A)
c.791+29G>A (n.791+29G>A)
 COSMIC
Xg.153870360C>GCA2695068616L1CAMc.806+28G>C (n.806+28G>C)
c.791+28G>C (n.791+28G>C)
 gnomAD v4
Xg.153870361T>CCA337263520L1CAMc.806+27A>G (n.806+27A>G)
c.791+27A>G (n.791+27A>G)
 dbSNP
Xg.153870361T=CA2466507129L1CAMc.806+27A= (n.806+27A=)
c.791+27A= (n.791+27A=)
Xg.153870362G>TCA2695068617L1CAMc.806+26C>A (n.806+26C>A)
c.791+26C>A (n.791+26C>A)
 gnomAD v4
Xg.153870364C=CA2466507130L1CAMc.806+24G= (n.806+24G=)
c.791+24G= (n.791+24G=)
Xg.153870364C>TCA10554498L1CAMc.806+24G>A (n.806+24G>A)
c.791+24G>A (n.791+24G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153870365C=CA2466507131L1CAMc.806+23G= (n.806+23G=)
c.791+23G= (n.791+23G=)
Xg.153870365C>TCA10554499L1CAMc.806+23G>A (n.806+23G>A)
c.791+23G>A (n.791+23G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153870366T>CCA2579733000L1CAMc.806+22A>G (n.806+22A>G)
c.791+22A>G (n.791+22A>G)
Xg.153870367G>ACA2695068618L1CAMc.806+21C>T (n.806+21C>T)
c.791+21C>T (n.791+21C>T)
 gnomAD v4
Xg.153870368C>ACA519208623L1CAMc.806+20G>T (n.806+20G>T)
c.791+20G>T (n.791+20G>T)
 ClinVar gnomAD v4
Xg.153870368C=CA2466507132L1CAMc.806+20G= (n.806+20G=)
c.791+20G= (n.791+20G=)
Xg.153870368C>TCA337263536L1CAMc.806+20G>A (n.806+20G>A)
c.791+20G>A (n.791+20G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.153870369C=CA2466507133L1CAMc.806+19G= (n.806+19G=)
c.791+19G= (n.791+19G=)
Xg.153870369C>GCA1138548911L1CAMc.806+19G>C (n.806+19G>C)
c.791+19G>C (n.791+19G>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.153870370C>ACA645152278L1CAMc.806+18G>T (n.806+18G>T)
c.791+18G>T (n.791+18G>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.153870370C=CA2466507134L1CAMc.806+18G= (n.806+18G=)
c.791+18G= (n.791+18G=)
Xg.153870370C>TCA10554500L1CAMc.806+18G>A (n.806+18G>A)
c.791+18G>A (n.791+18G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870372G>ACA2695068620L1CAMc.806+16C>T (n.806+16C>T)
c.791+16C>T (n.791+16C>T)
 gnomAD v4
Xg.153870372G>CCA2739273901L1CAMc.806+16C>G (n.806+16C>G)
c.791+16C>G (n.791+16C>G)
 ClinVar
Xg.153870372G=CA2466507135L1CAMc.806+16C= (n.806+16C=)
c.791+16C= (n.791+16C=)
Xg.153870372G>TCA10554501L1CAMc.806+16C>A (n.806+16C>A)
c.791+16C>A (n.791+16C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870374delCA2695068619L1CAMc.806+16del (n.806+16del)
c.791+16del (n.791+16del)
 gnomAD v4
Xg.153870373G>ACA2695068621L1CAMc.806+15C>T (n.806+15C>T)
c.791+15C>T (n.791+15C>T)
 ClinVar gnomAD v4
Xg.153870373G>TCA2579733001L1CAMc.806+15C>A (n.806+15C>A)
c.791+15C>A (n.791+15C>A)
Xg.153870374G>ACA10554502L1CAMc.806+14C>T (n.806+14C>T)
c.791+14C>T (n.791+14C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153870374G=CA2466507136L1CAMc.806+14C= (n.806+14C=)
c.791+14C= (n.791+14C=)
Xg.153870374G>TCA645152280L1CAMc.806+14C>A (n.806+14C>A)
c.791+14C>A (n.791+14C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.153870377C>TCA2551645175L1CAMc.806+11G>A (n.806+11G>A)
c.791+11G>A (n.791+11G>A)
 gnomAD v4
Xg.153870379delCA2579733002L1CAMc.806+11del (n.806+11del)
c.791+11del (n.791+11del)
Xg.153870378C=CA2466507137L1CAMc.806+10G= (n.806+10G=)
c.791+10G= (n.791+10G=)
Xg.153870378C>GCA2466507138L1CAMc.806+10G>C (n.806+10G>C)
c.791+10G>C (n.791+10G>C)
 ClinVar dbSNP
Xg.153870380A>TCA2697544838L1CAMc.806+8T>A (n.806+8T>A)
c.791+8T>A (n.791+8T>A)
 ClinVar
Xg.153870383C=CA2466507139L1CAMc.806+5G= (n.806+5G=)
c.791+5G= (n.791+5G=)
Xg.153870383C>GCA2580612518L1CAMc.806+5G>C (n.806+5G>C)
c.791+5G>C (n.791+5G>C)
 ClinVar
Xg.153870383C>TCA10583933L1CAMc.806+5G>A (n.806+5G>A)
c.791+5G>A (n.791+5G>A)
 ClinVar dbSNP
Xg.153870384T>ACA2513479282L1CAMc.806+4A>T (n.806+4A>T)
c.791+4A>T (n.791+4A>T)
 gnomAD v4
Xg.153870386A>CCA415132795L1CAMc.806+2T>G (n.806+2T>G)
c.791+2T>G (n.791+2T>G)
Xg.153870386A>GCA415132798L1CAMc.806+2T>C (n.806+2T>C)
c.791+2T>C (n.791+2T>C)
Xg.153870386A>TCA415132802L1CAMc.806+2T>A (n.806+2T>A)
c.791+2T>A (n.791+2T>A)
Xg.153870387C>ACA415132807L1CAMc.806+1G>T (n.806+1G>T)
c.791+1G>T (n.791+1G>T)
Xg.153870387C=CA2466507140L1CAMc.806+1G= (n.806+1G=)
c.791+1G= (n.791+1G=)
Xg.153870387C>GCA16621237L1CAMc.806+1G>C (n.806+1G>C)
c.791+1G>C (n.791+1G>C)
 ClinVar dbSNP
Xg.153870387C>TCA415132810L1CAMc.806+1G>A (n.806+1G>A)
c.791+1G>A (n.791+1G>A)
Xg.153870388A=CA2466507141L1CAMc.806T= (p.Phe269=)
c.791T= (p.Phe264=)
Xg.153870388A>CCA415132824L1CAMc.806T>G (p.Phe269Cys)
c.791T>G (p.Phe264Cys)
Xg.153870388A>GCA415132826L1CAMc.806T>C (p.Phe269Ser)
c.791T>C (p.Phe264Ser)
 ClinVar dbSNP gnomAD v4
Xg.153870388A>TCA415132828L1CAMc.806T>A (p.Phe269Tyr)
c.791T>A (p.Phe264Tyr)
Xg.153870389A>CCA415132837L1CAMc.805T>G (p.Phe269Val)
c.790T>G (p.Phe264Val)
Xg.153870389A>GCA415132840L1CAMc.805T>C (p.Phe269Leu)
c.790T>C (p.Phe264Leu)
Xg.153870389A>TCA415132844L1CAMc.805T>A (p.Phe269Ile)
c.790T>A (p.Phe264Ile)
Xg.153870390G>ACA519208674L1CAMc.804C>T (p.Gly268=)
c.789C>T (p.Gly263=)
Xg.153870390G>CCA519208673L1CAMc.804C>G (p.Gly268=)
c.789C>G (p.Gly263=)
Xg.153870390G=CA2466507142L1CAMc.804C= (p.Gly268=)
c.789C= (p.Gly263=)
Xg.153870390G>TCA10554503L1CAMc.804C>A (p.Gly268=)
c.789C>A (p.Gly263=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870391C>ACA415132848L1CAMc.803G>T (p.Gly268Val)
c.788G>T (p.Gly263Val)
Xg.153870391C>GCA415132849L1CAMc.803G>C (p.Gly268Ala)
c.788G>C (p.Gly263Ala)
Xg.153870391C>TCA415132850L1CAMc.803G>A (p.Gly268Asp)
c.788G>A (p.Gly263Asp)
Xg.153870392C>ACA415132858L1CAMc.802G>T (p.Gly268Cys)
c.787G>T (p.Gly263Cys)
Xg.153870392C>GCA415132855L1CAMc.802G>C (p.Gly268Arg)
c.787G>C (p.Gly263Arg)
Xg.153870392C>TCA415132853L1CAMc.802G>A (p.Gly268Ser)
c.787G>A (p.Gly263Ser)
 gnomAD v4
Xg.153870393C>ACA415132871L1CAMc.801G>T (p.Glu267Asp)
c.786G>T (p.Glu262Asp)
Xg.153870393C=CA2466507143L1CAMc.801G= (p.Glu267=)
c.786G= (p.Glu262=)
Xg.153870393C>GCA415132874L1CAMc.801G>C (p.Glu267Asp)
c.786G>C (p.Glu262Asp)
Xg.153870393C>TCA10554504L1CAMc.801G>A (p.Glu267=)
c.786G>A (p.Glu262=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153870394T>ACA415132880L1CAMc.800A>T (p.Glu267Val)
c.785A>T (p.Glu262Val)
Xg.153870394T>CCA415132885L1CAMc.800A>G (p.Glu267Gly)
c.785A>G (p.Glu262Gly)
Xg.153870394T>GCA415132888L1CAMc.800A>C (p.Glu267Ala)
c.785A>C (p.Glu262Ala)
Xg.153870394dupCA519208696L1CAMc.800dup (p.Phe269LeufsTer?)
c.785dup (p.Phe264LeufsTer?)
Xg.153870395C>ACA415132891L1CAMc.799G>T (p.Glu267Ter)
c.784G>T (p.Glu262Ter)
Xg.153870395C=CA2466507144L1CAMc.799G= (p.Glu267=)
c.784G= (p.Glu262=)
Xg.153870395C>GCA415132893L1CAMc.799G>C (p.Glu267Gln)
c.784G>C (p.Glu262Gln)
Xg.153870395C>TCA10554505L1CAMc.799G>A (p.Glu267Lys)
c.784G>A (p.Glu262Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153870396G>ACA10554506L1CAMc.798C>T (p.Ala266=)
c.783C>T (p.Ala261=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870396G>CCA519208705L1CAMc.798C>G (p.Ala266=)
c.783C>G (p.Ala261=)
 ClinVar
Xg.153870396G=CA2466507145L1CAMc.798C= (p.Ala266=)
c.783C= (p.Ala261=)
Xg.153870396G>TCA519208715L1CAMc.798C>A (p.Ala266=)
c.783C>A (p.Ala261=)
Xg.153870397G>ACA415132904L1CAMc.797C>T (p.Ala266Val)
c.782C>T (p.Ala261Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.153870397G>CCA415132908L1CAMc.797C>G (p.Ala266Gly)
c.782C>G (p.Ala261Gly)
Xg.153870397G=CA2466507146L1CAMc.797C= (p.Ala266=)
c.782C= (p.Ala261=)
Xg.153870397G>TCA415132912L1CAMc.797C>A (p.Ala266Asp)
c.782C>A (p.Ala261Asp)
Xg.153870398C>ACA415132920L1CAMc.796G>T (p.Ala266Ser)
c.781G>T (p.Ala261Ser)
Xg.153870398C=CA2466507147L1CAMc.796G= (p.Ala266=)
c.781G= (p.Ala261=)
Xg.153870398C>GCA415132917L1CAMc.796G>C (p.Ala266Pro)
c.781G>C (p.Ala261Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870398C>TCA415132915L1CAMc.796G>A (p.Ala266Thr)
c.781G>A (p.Ala261Thr)
 dbSNP gnomAD v3 gnomAD v4
Xg.153870399G>ACA10554507L1CAMc.795C>T (p.Ile265=)
c.780C>T (p.Ile260=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870399G>CCA415132928L1CAMc.795C>G (p.Ile265Met)
c.780C>G (p.Ile260Met)
Xg.153870399G=CA2466507148L1CAMc.795C= (p.Ile265=)
c.780C= (p.Ile260=)
Xg.153870399G>TCA519208740L1CAMc.795C>A (p.Ile265=)
c.780C>A (p.Ile260=)
Xg.153870400A>CCA415132931L1CAMc.794T>G (p.Ile265Ser)
c.779T>G (p.Ile260Ser)
Xg.153870400A>GCA415132933L1CAMc.794T>C (p.Ile265Thr)
c.779T>C (p.Ile260Thr)
Xg.153870400A>TCA415132937L1CAMc.794T>A (p.Ile265Asn)
c.779T>A (p.Ile260Asn)
Xg.153870401T>ACA415132947L1CAMc.793A>T (p.Ile265Phe)
c.778A>T (p.Ile260Phe)
Xg.153870401T>CCA415132951L1CAMc.793A>G (p.Ile265Val)
c.778A>G (p.Ile260Val)
Xg.153870401T>GCA415132955L1CAMc.793A>C (p.Ile265Leu)
c.778A>C (p.Ile260Leu)
Xg.153870402G>ACA519208758L1CAMc.792C>T (p.Cys264=)
c.777C>T (p.Cys259=)
Xg.153870402G>CCA415132960L1CAMc.792C>G (p.Cys264Trp)
c.777C>G (p.Cys259Trp)
Xg.153870402G>TCA415132963L1CAMc.792C>A (p.Cys264Ter)
c.777C>A (p.Cys259Ter)
Xg.153870403C>ACA415132966L1CAMc.791G>T (p.Cys264Phe)
c.776G>T (p.Cys259Phe)
 ClinVar dbSNP
Xg.153870403C=CA2466507149L1CAMc.791G= (p.Cys264=)
c.776G= (p.Cys259=)
Xg.153870403C>GCA415132969L1CAMc.791G>C (p.Cys264Ser)
c.776G>C (p.Cys259Ser)
Xg.153870403C>TCA254954L1CAMc.791G>A (p.Cys264Tyr)
c.776G>A (p.Cys259Tyr)
 ClinVar dbSNP
Xg.153870404A>CCA415132985L1CAMc.790T>G (p.Cys264Gly)
c.775T>G (p.Cys259Gly)
Xg.153870404A>GCA415132988L1CAMc.790T>C (p.Cys264Arg)
c.775T>C (p.Cys259Arg)
Xg.153870404A>TCA415132976L1CAMc.790T>A (p.Cys264Ser)
c.775T>A (p.Cys259Ser)
Xg.153870405C>ACA415132993L1CAMc.789G>T (p.Glu263Asp)
c.774G>T (p.Glu258Asp)
Xg.153870405C>GCA415132996L1CAMc.789G>C (p.Glu263Asp)
c.774G>C (p.Glu258Asp)
Xg.153870405C>TCA519208785L1CAMc.789G>A (p.Glu263=)
c.774G>A (p.Glu258=)
 gnomAD v4
Xg.153870406T>ACA415133000L1CAMc.788A>T (p.Glu263Val)
c.773A>T (p.Glu258Val)
Xg.153870406T>CCA415133002L1CAMc.788A>G (p.Glu263Gly)
c.773A>G (p.Glu258Gly)
Xg.153870406T>GCA415133003L1CAMc.788A>C (p.Glu263Ala)
c.773A>C (p.Glu258Ala)
Xg.153870407C>ACA415133006L1CAMc.787G>T (p.Glu263Ter)
c.772G>T (p.Glu258Ter)
Xg.153870407C>GCA415133014L1CAMc.787G>C (p.Glu263Gln)
c.772G>C (p.Glu258Gln)
Xg.153870407C>TCA415133016L1CAMc.787G>A (p.Glu263Lys)
c.772G>A (p.Glu258Lys)
Xg.153870408C>ACA519208802L1CAMc.786G>T (p.Leu262=)
c.771G>T (p.Leu257=)
Xg.153870408C>GCA519208810L1CAMc.786G>C (p.Leu262=)
c.771G>C (p.Leu257=)
Xg.153870408C>TCA519208806L1CAMc.786G>A (p.Leu262=)
c.771G>A (p.Leu257=)
 gnomAD v4
Xg.153870409A=CA2466507150L1CAMc.785T= (p.Leu262=)
c.770T= (p.Leu257=)
Xg.153870409A>CCA415133019L1CAMc.785T>G (p.Leu262Arg)
c.770T>G (p.Leu257Arg)
 ClinVar dbSNP
Xg.153870409A>GCA415133022L1CAMc.785T>C (p.Leu262Pro)
c.770T>C (p.Leu257Pro)
Xg.153870409A>TCA415133026L1CAMc.785T>A (p.Leu262Gln)
c.770T>A (p.Leu257Gln)
Xg.153870409_153870416delCA2695236875L1CAMc.778_785del (p.Leu260GlyfsTer?)
c.763_770del (p.Leu255GlyfsTer?)
Xg.153870410G>ACA519208822L1CAMc.784C>T (p.Leu262=)
c.769C>T (p.Leu257=)
 dbSNP gnomAD v4
Xg.153870410G>CCA415133028L1CAMc.784C>G (p.Leu262Val)
c.769C>G (p.Leu257Val)
Xg.153870410G=CA2466507151L1CAMc.784C= (p.Leu262=)
c.769C= (p.Leu257=)
Xg.153870410G>TCA415133032L1CAMc.784C>A (p.Leu262Met)
c.769C>A (p.Leu257Met)
Xg.153870411G>ACA519208832L1CAMc.783C>T (p.Val261=)
c.768C>T (p.Val256=)
Xg.153870411G>CCA519208834L1CAMc.783C>G (p.Val261=)
c.768C>G (p.Val256=)
Xg.153870411G>TCA519208836L1CAMc.783C>A (p.Val261=)
c.768C>A (p.Val256=)
Xg.153870412A>CCA415133044L1CAMc.782T>G (p.Val261Gly)
c.767T>G (p.Val256Gly)
Xg.153870412A>GCA415133051L1CAMc.782T>C (p.Val261Ala)
c.767T>C (p.Val256Ala)
Xg.153870412A>TCA415133049L1CAMc.782T>A (p.Val261Asp)
c.767T>A (p.Val256Asp)
Xg.153870413C>ACA415133056L1CAMc.781G>T (p.Val261Phe)
c.766G>T (p.Val256Phe)
Xg.153870413C=CA2466507152L1CAMc.781G= (p.Val261=)
c.766G= (p.Val256=)
Xg.153870413C>GCA415133058L1CAMc.781G>C (p.Val261Leu)
c.766G>C (p.Val256Leu)
 dbSNP
Xg.153870413C>TCA415133062L1CAMc.781G>A (p.Val261Ile)
c.766G>A (p.Val256Ile)
Xg.153870414C>ACA415133065L1CAMc.780G>T (p.Leu260Phe)
c.765G>T (p.Leu255Phe)
 dbSNP gnomAD v2 gnomAD v4
Xg.153870414C=CA2466507153L1CAMc.780G= (p.Leu260=)
c.765G= (p.Leu255=)
Xg.153870414C>GCA415133067L1CAMc.780G>C (p.Leu260Phe)
c.765G>C (p.Leu255Phe)
Xg.153870414C>TCA519208854L1CAMc.780G>A (p.Leu260=)
c.765G>A (p.Leu255=)
 dbSNP
Xg.153870415A>CCA415133069L1CAMc.779T>G (p.Leu260Trp)
c.764T>G (p.Leu255Trp)
Xg.153870415A>GCA415133073L1CAMc.779T>C (p.Leu260Ser)
c.764T>C (p.Leu255Ser)
Xg.153870415A>TCA415133077L1CAMc.779T>A (p.Leu260Ter)
c.764T>A (p.Leu255Ter)
Xg.153870416A>CCA415133079L1CAMc.778T>G (p.Leu260Val)
c.763T>G (p.Leu255Val)
Xg.153870416A>GCA519208868L1CAMc.778T>C (p.Leu260=)
c.763T>C (p.Leu255=)
Xg.153870416A>TCA415133082L1CAMc.778T>A (p.Leu260Met)
c.763T>A (p.Leu255Met)
Xg.153870417T>ACA519208870L1CAMc.777A>T (p.Pro259=)
c.762A>T (p.Pro254=)
Xg.153870417T>CCA519208871L1CAMc.777A>G (p.Pro259=)
c.762A>G (p.Pro254=)
 ClinVar
Xg.153870417T>GCA519208872L1CAMc.777A>C (p.Pro259=)
c.762A>C (p.Pro254=)
Xg.153870418G>ACA415133085L1CAMc.776C>T (p.Pro259Leu)
c.761C>T (p.Pro254Leu)
Xg.153870418G>CCA415133090L1CAMc.776C>G (p.Pro259Arg)
c.761C>G (p.Pro254Arg)
Xg.153870418G>TCA415133087L1CAMc.776C>A (p.Pro259Gln)
c.761C>A (p.Pro254Gln)
Xg.153870419delCA2579733003L1CAMc.776del (p.Pro259HisfsTer?)
c.761del (p.Pro254HisfsTer?)
Xg.153870419G>ACA415133094L1CAMc.775C>T (p.Pro259Ser)
c.760C>T (p.Pro254Ser)
Xg.153870419G>CCA415133097L1CAMc.775C>G (p.Pro259Ala)
c.760C>G (p.Pro254Ala)
Xg.153870419G>TCA415133095L1CAMc.775C>A (p.Pro259Thr)
c.760C>A (p.Pro254Thr)
 gnomAD v4
Xg.153870419_153870476delinsCTGTCAATGTCA2499226460L1CAMc.718_775delinsACATTGACAG (p.Pro240_Pro259delinsThrLeuThrAla)
c.703_760delinsACATTGACAG (p.Pro235_Pro254delinsThrLeuThrAla)
 ClinVar dbSNP
Xg.153870420C>ACA415133100L1CAMc.774G>T (p.Gln258His)
c.759G>T (p.Gln253His)
Xg.153870420C=CA2466507154L1CAMc.774G= (p.Gln258=)
c.759G= (p.Gln253=)
Xg.153870420C>GCA415133102L1CAMc.774G>C (p.Gln258His)
c.759G>C (p.Gln253His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.153870420C>TCA337263561L1CAMc.774G>A (p.Gln258=)
c.759G>A (p.Gln253=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.153870421T>ACA415133104L1CAMc.773A>T (p.Gln258Leu)
c.758A>T (p.Gln253Leu)
Xg.153870421T>CCA415133107L1CAMc.773A>G (p.Gln258Arg)
c.758A>G (p.Gln253Arg)
Xg.153870421T>GCA415133110L1CAMc.773A>C (p.Gln258Pro)
c.758A>C (p.Gln253Pro)
Xg.153870422G>ACA415133113L1CAMc.772C>T (p.Gln258Ter)
c.757C>T (p.Gln253Ter)
Xg.153870422G>CCA415133114L1CAMc.772C>G (p.Gln258Glu)
c.757C>G (p.Gln253Glu)
 dbSNP
Xg.153870422G=CA2466507155L1CAMc.772C= (p.Gln258=)
c.757C= (p.Gln253=)
Xg.153870422G>TCA415133116L1CAMc.772C>A (p.Gln258Lys)
c.757C>A (p.Gln253Lys)
Xg.153870423C>ACA10554508L1CAMc.771G>T (p.Gly257=)
c.756G>T (p.Gly252=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870423C=CA2466507156L1CAMc.771G= (p.Gly257=)
c.756G= (p.Gly252=)
Xg.153870423C>GCA519208906L1CAMc.771G>C (p.Gly257=)
c.756G>C (p.Gly252=)
Xg.153870423C>TCA519208911L1CAMc.771G>A (p.Gly257=)
c.756G>A (p.Gly252=)
 dbSNP gnomAD v4
Xg.153870424C>ACA415133127L1CAMc.770G>T (p.Gly257Val)
c.755G>T (p.Gly252Val)
 COSMIC
Xg.153870424C>GCA415133124L1CAMc.770G>C (p.Gly257Ala)
c.755G>C (p.Gly252Ala)
Xg.153870424C>TCA415133122L1CAMc.770G>A (p.Gly257Glu)
c.755G>A (p.Gly252Glu)
Xg.153870425C>ACA415133129L1CAMc.769G>T (p.Gly257Trp)
c.754G>T (p.Gly252Trp)
Xg.153870425C>GCA415133132L1CAMc.769G>C (p.Gly257Arg)
c.754G>C (p.Gly252Arg)
Xg.153870425C>TCA415133135L1CAMc.769G>A (p.Gly257Arg)
c.754G>A (p.Gly252Arg)
 ClinVar dbSNP gnomAD v4
Xg.153870426C>ACA415133136L1CAMc.768G>T (p.Gln256His)
c.753G>T (p.Gln251His)
Xg.153870426C>GCA415133138L1CAMc.768G>C (p.Gln256His)
c.753G>C (p.Gln251His)
Xg.153870426C>TCA519208931L1CAMc.768G>A (p.Gln256=)
c.753G>A (p.Gln251=)
Xg.153870426_153870427delCA2579733004L1CAMc.767_768del (p.Gln256ArgfsTer?)
c.752_753del (p.Gln251ArgfsTer?)
Xg.153870427T>ACA415133140L1CAMc.767A>T (p.Gln256Leu)
c.752A>T (p.Gln251Leu)
Xg.153870427T>CCA415133142L1CAMc.767A>G (p.Gln256Arg)
c.752A>G (p.Gln251Arg)
Xg.153870427T>GCA415133144L1CAMc.767A>C (p.Gln256Pro)
c.752A>C (p.Gln251Pro)
Xg.153870428G>ACA415133148L1CAMc.766C>T (p.Gln256Ter)
c.751C>T (p.Gln251Ter)
Xg.153870428G>CCA415133150L1CAMc.766C>G (p.Gln256Glu)
c.751C>G (p.Gln251Glu)
Xg.153870428G>TCA415133151L1CAMc.766C>A (p.Gln256Lys)
c.751C>A (p.Gln251Lys)
Xg.153870429delCA2579733005L1CAMc.765del (p.Leu255PhefsTer?)
c.750del (p.Leu250PhefsTer?)
Xg.153870429C>ACA415133164L1CAMc.765G>T (p.Leu255Phe)
c.750G>T (p.Leu250Phe)
Xg.153870429C=CA2466507157L1CAMc.765G= (p.Leu255=)
c.750G= (p.Leu250=)
Xg.153870429C>GCA415133165L1CAMc.765G>C (p.Leu255Phe)
c.750G>C (p.Leu250Phe)
Xg.153870429C>TCA10554509L1CAMc.765G>A (p.Leu255=)
c.750G>A (p.Leu250=)
 dbSNP ExAC gnomAD v2
Xg.153870430A>CCA415133168L1CAMc.764T>G (p.Leu255Trp)
c.749T>G (p.Leu250Trp)
Xg.153870430A>GCA415133171L1CAMc.764T>C (p.Leu255Ser)
c.749T>C (p.Leu250Ser)
Xg.153870430A>TCA415133172L1CAMc.764T>A (p.Leu255Ter)
c.749T>A (p.Leu250Ter)
Xg.153870431A>CCA415133173L1CAMc.763T>G (p.Leu255Val)
c.748T>G (p.Leu250Val)
Xg.153870431A>GCA519208966L1CAMc.763T>C (p.Leu255=)
c.748T>C (p.Leu250=)
Xg.153870431A>TCA415133175L1CAMc.763T>A (p.Leu255Met)
c.748T>A (p.Leu250Met)
Xg.153870432G>ACA10554510L1CAMc.762C>T (p.Ala254=)
c.747C>T (p.Ala249=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870432G>CCA519208976L1CAMc.762C>G (p.Ala254=)
c.747C>G (p.Ala249=)
Xg.153870432G=CA2466507158L1CAMc.762C= (p.Ala254=)
c.747C= (p.Ala249=)
Xg.153870432G>TCA519208978L1CAMc.762C>A (p.Ala254=)
c.747C>A (p.Ala249=)
Xg.153870433G>ACA415133179L1CAMc.761C>T (p.Ala254Val)
c.746C>T (p.Ala249Val)
Xg.153870433G>CCA415133181L1CAMc.761C>G (p.Ala254Gly)
c.746C>G (p.Ala249Gly)
Xg.153870433G>TCA415133185L1CAMc.761C>A (p.Ala254Asp)
c.746C>A (p.Ala249Asp)
Xg.153870434C>ACA415133189L1CAMc.760G>T (p.Ala254Ser)
c.745G>T (p.Ala249Ser)
Xg.153870434C>GCA415133191L1CAMc.760G>C (p.Ala254Pro)
c.745G>C (p.Ala249Pro)
Xg.153870434C>TCA415133194L1CAMc.760G>A (p.Ala254Thr)
c.745G>A (p.Ala249Thr)
Xg.153870435C>ACA519208993L1CAMc.759G>T (p.Val253=)
c.744G>T (p.Val248=)
Xg.153870435C>GCA519208994L1CAMc.759G>C (p.Val253=)
c.744G>C (p.Val248=)
Xg.153870435C>TCA519208996L1CAMc.759G>A (p.Val253=)
c.744G>A (p.Val248=)
Xg.153870436A>CCA415133202L1CAMc.758T>G (p.Val253Gly)
c.743T>G (p.Val248Gly)
Xg.153870436A>GCA415133197L1CAMc.758T>C (p.Val253Ala)
c.743T>C (p.Val248Ala)
Xg.153870436A>TCA415133199L1CAMc.758T>A (p.Val253Glu)
c.743T>A (p.Val248Glu)
Xg.153870437C>ACA415133204L1CAMc.757G>T (p.Val253Leu)
c.742G>T (p.Val248Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.153870437C=CA2466507159L1CAMc.757G= (p.Val253=)
c.742G= (p.Val248=)
Xg.153870437C>GCA415133206L1CAMc.757G>C (p.Val253Leu)
c.742G>C (p.Val248Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870437C>TCA415133207L1CAMc.757G>A (p.Val253Met)
c.742G>A (p.Val248Met)
Xg.153870438C>ACA519209015L1CAMc.756G>T (p.Leu252=)
c.741G>T (p.Leu247=)
 gnomAD v4
Xg.153870438C=CA2466507160L1CAMc.756G= (p.Leu252=)
c.741G= (p.Leu247=)
Xg.153870438C>GCA10554511L1CAMc.756G>C (p.Leu252=)
c.741G>C (p.Leu247=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870438C>TCA519209019L1CAMc.756G>A (p.Leu252=)
c.741G>A (p.Leu247=)
Xg.153870439A>CCA415133219L1CAMc.755T>G (p.Leu252Arg)
c.740T>G (p.Leu247Arg)
Xg.153870439A>GCA415133222L1CAMc.755T>C (p.Leu252Pro)
c.740T>C (p.Leu247Pro)
Xg.153870439A>TCA415133224L1CAMc.755T>A (p.Leu252Gln)
c.740T>A (p.Leu247Gln)
Xg.153870440G>ACA519209028L1CAMc.754C>T (p.Leu252=)
c.739C>T (p.Leu247=)
Xg.153870440G>CCA415133227L1CAMc.754C>G (p.Leu252Val)
c.739C>G (p.Leu247Val)
 dbSNP
Xg.153870440G=CA2466507161L1CAMc.754C= (p.Leu252=)
c.739C= (p.Leu247=)
Xg.153870440G>TCA415133229L1CAMc.754C>A (p.Leu252Met)
c.739C>A (p.Leu247Met)
Xg.153870441delCA2740090189L1CAMc.754del (p.Leu252TrpfsTer?)
c.739del (p.Leu247TrpfsTer?)
 ClinVar
Xg.153870441G>ACA519209035L1CAMc.753C>T (p.His251=)
c.738C>T (p.His246=)
Xg.153870441G>CCA415133231L1CAMc.753C>G (p.His251Gln)
c.738C>G (p.His246Gln)
Xg.153870441G>TCA415133233L1CAMc.753C>A (p.His251Gln)
c.738C>A (p.His246Gln)
 COSMIC
Xg.153870442T>ACA415133242L1CAMc.752A>T (p.His251Leu)
c.737A>T (p.His246Leu)
Xg.153870442T>CCA415133236L1CAMc.752A>G (p.His251Arg)
c.737A>G (p.His246Arg)
Xg.153870442T>GCA415133239L1CAMc.752A>C (p.His251Pro)
c.737A>C (p.His246Pro)
Xg.153870443G>ACA415133244L1CAMc.751C>T (p.His251Tyr)
c.736C>T (p.His246Tyr)
Xg.153870443G>CCA415133246L1CAMc.751C>G (p.His251Asp)
c.736C>G (p.His246Asp)
 ClinVar gnomAD v4
Xg.153870443G>TCA415133248L1CAMc.751C>A (p.His251Asn)
c.736C>A (p.His246Asn)
Xg.153870444G>ACA337263564L1CAMc.750C>T (p.Ser250=)
c.735C>T (p.Ser245=)
 dbSNP
Xg.153870444G>CCA415133254L1CAMc.750C>G (p.Ser250Arg)
c.735C>G (p.Ser245Arg)
Xg.153870444G=CA2466507162L1CAMc.750C= (p.Ser250=)
c.735C= (p.Ser245=)
Xg.153870444G>TCA10554512L1CAMc.750C>A (p.Ser250Arg)
c.735C>A (p.Ser245Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153870444_153870445delinsGCCA2466507163L1CAMc.749_750delinsGC (p.Ser250=)
c.734_735delinsGC (p.Ser245=)
Xg.153870445delCA915952052L1CAMc.749del (p.Ser250ThrfsTer?)
c.734del (p.Ser245ThrfsTer?)
 ClinVar dbSNP
Xg.153870445C>ACA415133265L1CAMc.749G>T (p.Ser250Ile)
c.734G>T (p.Ser245Ile)
Xg.153870445C>GCA415133260L1CAMc.749G>C (p.Ser250Thr)
c.734G>C (p.Ser245Thr)
Xg.153870445C>TCA415133262L1CAMc.749G>A (p.Ser250Asn)
c.734G>A (p.Ser245Asn)
Xg.153870446T>ACA415133268L1CAMc.748A>T (p.Ser250Cys)
c.733A>T (p.Ser245Cys)
Xg.153870446T>CCA415133270L1CAMc.748A>G (p.Ser250Gly)
c.733A>G (p.Ser245Gly)
Xg.153870446T>GCA415133271L1CAMc.748A>C (p.Ser250Arg)
c.733A>C (p.Ser245Arg)
Xg.153870447G>ACA519209071L1CAMc.747C>T (p.Ser249=)
c.732C>T (p.Ser244=)
 ClinVar
Xg.153870447G>CCA415133275L1CAMc.747C>G (p.Ser249Arg)
c.732C>G (p.Ser244Arg)
Xg.153870447G>TCA415133277L1CAMc.747C>A (p.Ser249Arg)
c.732C>A (p.Ser244Arg)
Xg.153870448C>ACA415133279L1CAMc.746G>T (p.Ser249Ile)
c.731G>T (p.Ser244Ile)
Xg.153870448C>GCA415133283L1CAMc.746G>C (p.Ser249Thr)
c.731G>C (p.Ser244Thr)
Xg.153870448C>TCA415133281L1CAMc.746G>A (p.Ser249Asn)
c.731G>A (p.Ser244Asn)
Xg.153870449T>ACA415133286L1CAMc.745A>T (p.Ser249Cys)
c.730A>T (p.Ser244Cys)
Xg.153870449T>CCA415133288L1CAMc.745A>G (p.Ser249Gly)
c.730A>G (p.Ser244Gly)
Xg.153870449T>GCA415133290L1CAMc.745A>C (p.Ser249Arg)
c.730A>C (p.Ser244Arg)
Xg.153870450G>ACA519209098L1CAMc.744C>T (p.Ser248=)
c.729C>T (p.Ser243=)
Xg.153870450G>CCA519209100L1CAMc.744C>G (p.Ser248=)
c.729C>G (p.Ser243=)
Xg.153870450G>TCA519209103L1CAMc.744C>A (p.Ser248=)
c.729C>A (p.Ser243=)
Xg.153870451G>ACA415133292L1CAMc.743C>T (p.Ser248Phe)
c.728C>T (p.Ser243Phe)
 dbSNP gnomAD v2 gnomAD v4
Xg.153870451G>CCA415133294L1CAMc.743C>G (p.Ser248Cys)
c.728C>G (p.Ser243Cys)
Xg.153870451G=CA2466507164L1CAMc.743C= (p.Ser248=)
c.728C= (p.Ser243=)
Xg.153870451G>TCA10554513L1CAMc.743C>A (p.Ser248Tyr)
c.728C>A (p.Ser243Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched