Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.127823973_127830053delCA1139661202ENGc.-327-226_588+331del
c.220-226_1134+331del
 ClinVar
9g.127823973_127830815delCA1139661203ENGc.-327-988_588+331del
c.220-988_1134+331del
 ClinVar
9g.127824679_127826283delCA1139661205ENGc.-24+229_445+123del
c.523+229_991+123del
 ClinVar
9g.127824681_127830056delCA1139661206ENGc.-327-225_445+123del
c.220-225_991+123del
 ClinVar
9g.127825238T>ACA374983036ENGc.263A>T (p.Gln88Leu)
c.809A>T (p.Gln270Leu)
9g.127825238T>CCA5252979ENGc.263A>G (p.Gln88Arg)
c.809A>G (p.Gln270Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.127825238T>GCA374983038ENGc.263A>C (p.Gln88Pro)
c.809A>C (p.Gln270Pro)
9g.127825238T=CA1879974254ENGc.263A= (p.Gln88=)
c.809A= (p.Gln270=)
9g.127825239G>ACA374983040ENGc.262C>T (p.Gln88Ter)
c.808C>T (p.Gln270Ter)
 ClinVar dbSNP
9g.127825239G>CCA374983041ENGc.262C>G (p.Gln88Glu)
c.808C>G (p.Gln270Glu)
9g.127825239G=CA1879974260ENGc.262C= (p.Gln88=)
c.808C= (p.Gln270=)
9g.127825239G>TCA374983044ENGc.262C>A (p.Gln88Lys)
c.808C>A (p.Gln270Lys)
 gnomAD v4
9g.127825240C>ACA374983051ENGc.261G>T (p.Met87Ile)
c.807G>T (p.Met269Ile)
9g.127825240C>GCA374983049ENGc.261G>C (p.Met87Ile)
c.807G>C (p.Met269Ile)
9g.127825240C>TCA374983047ENGc.261G>A (p.Met87Ile)
c.807G>A (p.Met269Ile)
 gnomAD v4
9g.127825241A=CA1879974278ENGc.260T= (p.Met87=)
c.806T= (p.Met269=)
9g.127825241A>CCA374983056ENGc.260T>G (p.Met87Arg)
c.806T>G (p.Met269Arg)
 ClinVar dbSNP
9g.127825241A>GCA5252980ENGc.260T>C (p.Met87Thr)
c.806T>C (p.Met269Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.127825241A>TCA374983058ENGc.260T>A (p.Met87Lys)
c.806T>A (p.Met269Lys)
 ClinVar dbSNP
9g.127825242T>ACA374983061ENGc.259A>T (p.Met87Leu)
c.805A>T (p.Met269Leu)
 gnomAD v4
9g.127825242T>CCA374983063ENGc.259A>G (p.Met87Val)
c.805A>G (p.Met269Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127825242T>GCA374983065ENGc.259A>C (p.Met87Leu)
c.805A>C (p.Met269Leu)
 dbSNP gnomAD v2
9g.127825242T=CA1879974294ENGc.259A= (p.Met87=)
c.805A= (p.Met269=)
9g.127825242_127825248delinsTGTTGTGCA1879974299ENGc.253_259delinsCACAACA (p.His85=)
c.799_805delinsCACAACA (p.His267=)
9g.127825243G>ACA467475083ENGc.258C>T (p.Asn86=)
c.804C>T (p.Asn268=)
 gnomAD v4
9g.127825243G>CCA374983068ENGc.258C>G (p.Asn86Lys)
c.804C>G (p.Asn268Lys)
9g.127825243G>TCA374983070ENGc.258C>A (p.Asn86Lys)
c.804C>A (p.Asn268Lys)
9g.127825247_127825252delCA915947174ENGc.253_258del (p.His85_Asn86del)
c.799_804del (p.His267_Asn268del)
 ClinVar dbSNP
9g.127825244T>ACA374983073ENGc.257A>T (p.Asn86Ile)
c.803A>T (p.Asn268Ile)
9g.127825244T>CCA374983075ENGc.257A>G (p.Asn86Ser)
c.803A>G (p.Asn268Ser)
9g.127825244T>GCA374983077ENGc.257A>C (p.Asn86Thr)
c.803A>C (p.Asn268Thr)
9g.127825245T>ACA374983080ENGc.256A>T (p.Asn86Tyr)
c.802A>T (p.Asn268Tyr)
9g.127825245T>CCA374983082ENGc.256A>G (p.Asn86Asp)
c.802A>G (p.Asn268Asp)
9g.127825245T>GCA374983084ENGc.256A>C (p.Asn86His)
c.802A>C (p.Asn268His)
9g.127825246G>ACA467475084ENGc.255C>T (p.His85=)
c.801C>T (p.His267=)
 dbSNP gnomAD v2 gnomAD v4
9g.127825246G>CCA374983086ENGc.255C>G (p.His85Gln)
c.801C>G (p.His267Gln)
9g.127825246G=CA1879974308ENGc.255C= (p.His85=)
c.801C= (p.His267=)
9g.127825246G>TCA374983090ENGc.255C>A (p.His85Gln)
c.801C>A (p.His267Gln)
9g.127825247T>ACA374983096ENGc.254A>T (p.His85Leu)
c.800A>T (p.His267Leu)
9g.127825247T>CCA374983092ENGc.254A>G (p.His85Arg)
c.800A>G (p.His267Arg)
9g.127825247T>GCA374983094ENGc.254A>C (p.His85Pro)
c.800A>C (p.His267Pro)
9g.127825248G>ACA374983101ENGc.253C>T (p.His85Tyr)
c.799C>T (p.His267Tyr)
9g.127825248G>CCA374983102ENGc.253C>G (p.His85Asp)
c.799C>G (p.His267Asp)
9g.127825248G=CA1879974313ENGc.253C= (p.His85=)
c.799C= (p.His267=)
9g.127825248G>TCA374983104ENGc.253C>A (p.His85Asn)
c.799C>A (p.His267Asn)
 dbSNP
9g.127825249G>ACA467475085ENGc.252C>T (p.Asn84=)
c.798C>T (p.Asn266=)
 gnomAD v4
9g.127825249G>CCA374983107ENGc.252C>G (p.Asn84Lys)
c.798C>G (p.Asn266Lys)
9g.127825249G>TCA374983108ENGc.252C>A (p.Asn84Lys)
c.798C>A (p.Asn266Lys)
9g.127825250_127825258delCA2573143975ENGc.244_252del (p.Asp82_Asn84del)
c.790_798del (p.Asp264_Asn266del)
 ClinVar dbSNP
9g.127825250T>ACA374983112ENGc.251A>T (p.Asn84Ile)
c.797A>T (p.Asn266Ile)
 gnomAD v4
9g.127825250T>CCA374983114ENGc.251A>G (p.Asn84Ser)
c.797A>G (p.Asn266Ser)
9g.127825250T>GCA374983116ENGc.251A>C (p.Asn84Thr)
c.797A>C (p.Asn266Thr)
9g.127825251T>ACA374983119ENGc.250A>T (p.Asn84Tyr)
c.796A>T (p.Asn266Tyr)
9g.127825251T>CCA374983121ENGc.250A>G (p.Asn84Asp)
c.796A>G (p.Asn266Asp)
9g.127825251T>GCA374983123ENGc.250A>C (p.Asn84His)
c.796A>C (p.Asn266His)
9g.127825252G>ACA467475086ENGc.249C>T (p.Ala83=)
c.795C>T (p.Ala265=)
9g.127825252G>CCA467475087ENGc.249C>G (p.Ala83=)
c.795C>G (p.Ala265=)
9g.127825252G>TCA467475088ENGc.249C>A (p.Ala83=)
c.795C>A (p.Ala265=)
9g.127825253G>ACA374983130ENGc.248C>T (p.Ala83Val)
c.794C>T (p.Ala265Val)
 gnomAD v4
9g.127825253G>CCA374983127ENGc.248C>G (p.Ala83Gly)
c.794C>G (p.Ala265Gly)
9g.127825253G>TCA374983126ENGc.248C>A (p.Ala83Asp)
c.794C>A (p.Ala265Asp)
 ClinVar dbSNP
9g.127825254C>ACA374983134ENGc.247G>T (p.Ala83Ser)
c.793G>T (p.Ala265Ser)
9g.127825254C=CA1879974317ENGc.247G= (p.Ala83=)
c.793G= (p.Ala265=)
9g.127825254C>GCA374983135ENGc.247G>C (p.Ala83Pro)
c.793G>C (p.Ala265Pro)
9g.127825254C>TCA5252981ENGc.247G>A (p.Ala83Thr)
c.793G>A (p.Ala265Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127825255G>ACA5252982ENGc.246C>T (p.Asp82=)
c.792C>T (p.Asp264=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825255G>CCA374983139ENGc.246C>G (p.Asp82Glu)
c.792C>G (p.Asp264Glu)
9g.127825255G=CA1879974322ENGc.246C= (p.Asp82=)
c.792C= (p.Asp264=)
9g.127825255G>TCA374983141ENGc.246C>A (p.Asp82Glu)
c.792C>A (p.Asp264Glu)
 COSMIC COSMIC
9g.127825256T>ACA374983143ENGc.245A>T (p.Asp82Val)
c.791A>T (p.Asp264Val)
9g.127825256T>CCA374983145ENGc.245A>G (p.Asp82Gly)
c.791A>G (p.Asp264Gly)
9g.127825256T>GCA374983147ENGc.245A>C (p.Asp82Ala)
c.791A>C (p.Asp264Ala)
9g.127825257C>ACA374983151ENGc.244G>T (p.Asp82Tyr)
c.790G>T (p.Asp264Tyr)
9g.127825257C=CA1879974325ENGc.244G= (p.Asp82=)
c.790G= (p.Asp264=)
9g.127825257C>GCA374983152ENGc.244G>C (p.Asp82His)
c.790G>C (p.Asp264His)
9g.127825257C>TCA374983156ENGc.244G>A (p.Asp82Asn)
c.790G>A (p.Asp264Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.127825257_127825260delinsCGATCA1879974329ENGc.241_244delinsATCG (p.Ile81=)
c.787_790delinsATCG (p.Ile263=)
9g.127825258G>ACA467475089ENGc.243C>T (p.Ile81=)
c.789C>T (p.Ile263=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127825258G>CCA374983158ENGc.243C>G (p.Ile81Met)
c.789C>G (p.Ile263Met)
9g.127825258G=CA1879974340ENGc.243C= (p.Ile81=)
c.789C= (p.Ile263=)
9g.127825258G>TCA467475090ENGc.243C>A (p.Ile81=)
c.789C>A (p.Ile263=)
9g.127825260_127825262delCA916081555ENGc.241_243del (p.Ile81del)
c.787_789del (p.Ile263del)
 ClinVar dbSNP gnomAD v4
9g.127825259_127825263delCA2695211289ENGc.239_243del (p.Leu80ArgfsTer?)
c.785_789del (p.Leu262ArgfsTer?)
9g.127825260_127825269dupCA915947175ENGc.234_243dup (p.Asp82LeufsTer?)
c.780_789dup (p.Asp264LeufsTer?)
 ClinVar dbSNP
9g.127825259A=CA1879974347ENGc.242T= (p.Ile81=)
c.788T= (p.Ile263=)
9g.127825259A>CCA374983166ENGc.242T>G (p.Ile81Ser)
c.788T>G (p.Ile263Ser)
 ClinVar dbSNP
9g.127825259A>GCA374983162ENGc.242T>C (p.Ile81Thr)
c.788T>C (p.Ile263Thr)
 dbSNP gnomAD v3 gnomAD v4
9g.127825259A>TCA374983163ENGc.242T>A (p.Ile81Asn)
c.788T>A (p.Ile263Asn)
 ClinVar dbSNP
9g.127825260T>ACA374983168ENGc.241A>T (p.Ile81Phe)
c.787A>T (p.Ile263Phe)
9g.127825260T>CCA374983171ENGc.241A>G (p.Ile81Val)
c.787A>G (p.Ile263Val)
9g.127825260T>GCA374983173ENGc.241A>C (p.Ile81Leu)
c.787A>C (p.Ile263Leu)
9g.127825261G>ACA5252983ENGc.240C>T (p.Leu80=)
c.786C>T (p.Leu262=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825261G>CCA467475091ENGc.240C>G (p.Leu80=)
c.786C>G (p.Leu262=)
9g.127825261G=CA1879974357ENGc.240C= (p.Leu80=)
c.786C= (p.Leu262=)
9g.127825261G>TCA467475092ENGc.240C>A (p.Leu80=)
c.786C>A (p.Leu262=)
9g.127825263_127825282delCA2499219641ENGc.221_240del (p.Pro74HisfsTer?)
c.767_786del (p.Pro256HisfsTer?)
 ClinVar dbSNP
9g.127825262A>CCA374983179ENGc.239T>G (p.Leu80Arg)
c.785T>G (p.Leu262Arg)
9g.127825262A>GCA374983181ENGc.239T>C (p.Leu80Pro)
c.785T>C (p.Leu262Pro)
9g.127825262A>TCA374983184ENGc.239T>A (p.Leu80His)
c.785T>A (p.Leu262His)
9g.127825263G>ACA374983189ENGc.238C>T (p.Leu80Phe)
c.784C>T (p.Leu262Phe)
9g.127825263G>CCA374983190ENGc.238C>G (p.Leu80Val)
c.784C>G (p.Leu262Val)
 dbSNP gnomAD v4
9g.127825263G=CA1879974366ENGc.238C= (p.Leu80=)
c.784C= (p.Leu262=)
9g.127825263G>TCA374983191ENGc.238C>A (p.Leu80Ile)
c.784C>A (p.Leu262Ile)
9g.127825264C>ACA374983193ENGc.237G>T (p.Trp79Cys)
c.783G>T (p.Trp261Cys)
9g.127825264C>GCA374983195ENGc.237G>C (p.Trp79Cys)
c.783G>C (p.Trp261Cys)
9g.127825264C>TCA374983197ENGc.237G>A (p.Trp79Ter)
c.783G>A (p.Trp261Ter)
9g.127825265C>ACA16612706ENGc.236G>T (p.Trp79Leu)
c.782G>T (p.Trp261Leu)
 ClinVar dbSNP
9g.127825265C=CA1879974377ENGc.236G= (p.Trp79=)
c.782G= (p.Trp261=)
9g.127825265C>GCA374983203ENGc.236G>C (p.Trp79Ser)
c.782G>C (p.Trp261Ser)
9g.127825265C>TCA374983201ENGc.236G>A (p.Trp79Ter)
c.782G>A (p.Trp261Ter)
 ClinVar dbSNP
9g.127825265_127825266dupCA2573053102ENGc.235_236dup (p.Trp79CysfsTer?)
c.781_782dup (p.Trp261CysfsTer?)
 ClinVar dbSNP
9g.127825265_127825294delinsCAGGACACGTAGGGGGGACCCTGCAGGATGCA1879974372ENGc.207_236delinsCATCCTGCAGGGTCCCCCCTACGTGTCCTG (p.Leu69=)
c.753_782delinsCATCCTGCAGGGTCCCCCCTACGTGTCCTG (p.Leu251=)
9g.127825266A=CA1879974393ENGc.235T= (p.Trp79=)
c.781T= (p.Trp261=)
9g.127825266A>CCA374983206ENGc.235T>G (p.Trp79Gly)
c.781T>G (p.Trp261Gly)
 ClinVar dbSNP
9g.127825266A>GCA374983210ENGc.235T>C (p.Trp79Arg)
c.781T>C (p.Trp261Arg)
9g.127825266A>TCA374983208ENGc.235T>A (p.Trp79Arg)
c.781T>A (p.Trp261Arg)
9g.127825271_127825299delCA915947176ENGc.207_235del (p.Ile70AlafsTer?)
c.753_781del (p.Ile252AlafsTer?)
 ClinVar dbSNP
9g.127825266_127825267insCGTAGGGGCA2695211290ENGc.234_235insCCCCTACG (p.Trp79ProfsTer?)
c.780_781insCCCCTACG (p.Trp261ProfsTer?)
9g.127825267G>ACA467475093ENGc.234C>T (p.Ser78=)
c.780C>T (p.Ser260=)
 dbSNP gnomAD v4
9g.127825267G>CCA467475094ENGc.234C>G (p.Ser78=)
c.780C>G (p.Ser260=)
9g.127825267G=CA1879974401ENGc.234C= (p.Ser78=)
c.780C= (p.Ser260=)
9g.127825267G>TCA467475095ENGc.234C>A (p.Ser78=)
c.780C>A (p.Ser260=)
9g.127825268G>ACA374983212ENGc.233C>T (p.Ser78Phe)
c.779C>T (p.Ser260Phe)
 gnomAD v4
9g.127825268G>CCA374983215ENGc.233C>G (p.Ser78Cys)
c.779C>G (p.Ser260Cys)
9g.127825268G=CA1879974405ENGc.233C= (p.Ser78=)
c.779C= (p.Ser260=)
9g.127825268G>TCA374983213ENGc.233C>A (p.Ser78Tyr)
c.779C>A (p.Ser260Tyr)
9g.127825269A>CCA374983218ENGc.232T>G (p.Ser78Ala)
c.778T>G (p.Ser260Ala)
9g.127825269A>GCA374983220ENGc.232T>C (p.Ser78Pro)
c.778T>C (p.Ser260Pro)
9g.127825269A>TCA374983223ENGc.232T>A (p.Ser78Thr)
c.778T>A (p.Ser260Thr)
 gnomAD v4
9g.127825269dupCA2573143976ENGc.232dup (p.Ser78PhefsTer?)
c.778dup (p.Ser260PhefsTer?)
 ClinVar dbSNP
9g.127825269_127825271delinsGACACGTAGGGGCA2695211291ENGc.230_232delinsCCCCTACGTGTC (p.Val77_Ser78delinsAlaProThrCysPro)
c.776_778delinsCCCCTACGTGTC (p.Val259_Ser260delinsAlaProThrCysPro)
9g.127825271_127825272dupCA1879974407ENGc.231_232dup (p.Ser78CysfsTer?)
c.777_778dup (p.Ser260CysfsTer?)
 ClinVar dbSNP
9g.127825270C>ACA467475096ENGc.231G>T (p.Val77=)
c.777G>T (p.Val259=)
 ClinVar dbSNP
9g.127825270C>GCA467475098ENGc.231G>C (p.Val77=)
c.777G>C (p.Val259=)
9g.127825270C>TCA467475097ENGc.231G>A (p.Val77=)
c.777G>A (p.Val259=)
9g.127825270_127825271delinsCACA1879974410ENGc.230_231delinsTG (p.Val77=)
c.776_777delinsTG (p.Val259=)
9g.127825270_127825281delinsCACGTAGGGGGGCA1879974411ENGc.220_231delinsCCCCCCTACGTG (p.Pro74=)
c.766_777delinsCCCCCCTACGTG (p.Pro256=)
9g.127825271delCA915947177ENGc.230del (p.Val77GlyfsTer?)
c.776del (p.Val259GlyfsTer?)
 ClinVar dbSNP
9g.127825271A=CA1879974431ENGc.230T= (p.Val77=)
c.776T= (p.Val259=)
9g.127825271A>CCA374983226ENGc.230T>G (p.Val77Gly)
c.776T>G (p.Val259Gly)
 ClinVar dbSNP
9g.127825271A>GCA200313424ENGc.230T>C (p.Val77Ala)
c.776T>C (p.Val259Ala)
 dbSNP
9g.127825271A>TCA374983229ENGc.230T>A (p.Val77Glu)
c.776T>A (p.Val259Glu)
9g.127825271_127825274delinsGACCCTGCCA2695211292ENGc.227_230delinsGCAGGGTC (p.Tyr76CysfsTer?)
c.773_776delinsGCAGGGTC (p.Tyr258CysfsTer?)
 ClinVar
9g.127825273_127825283delCA1139661209ENGc.220_230del (p.Pro74ValfsTer?)
c.766_776del (p.Pro256ValfsTer?)
 ClinVar dbSNP
9g.127825272delCA2695211293ENGc.229del (p.Val77CysfsTer?)
c.775del (p.Val259CysfsTer?)
9g.127825272C>ACA374983236ENGc.229G>T (p.Val77Leu)
c.775G>T (p.Val259Leu)
9g.127825272C=CA1879974442ENGc.229G= (p.Val77=)
c.775G= (p.Val259=)
9g.127825272C>GCA374983238ENGc.229G>C (p.Val77Leu)
c.775G>C (p.Val259Leu)
9g.127825272C>TCA5252984ENGc.229G>A (p.Val77Met)
c.775G>A (p.Val259Met)
 ClinVar dbSNP ExAC gnomAD v2
9g.127825273delCA2573334441ENGc.228del (p.Tyr76Ter)
c.774del (p.Tyr258Ter)
 ClinVar
9g.127825273G>ACA5252985ENGc.228C>T (p.Tyr76=)
c.774C>T (p.Tyr258=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825273G>CCA374983244ENGc.228C>G (p.Tyr76Ter)
c.774C>G (p.Tyr258Ter)
 ClinVar dbSNP
9g.127825273G=CA1879974455ENGc.228C= (p.Tyr76=)
c.774C= (p.Tyr258=)
9g.127825273G>TCA374983246ENGc.228C>A (p.Tyr76Ter)
c.774C>A (p.Tyr258Ter)
 ClinVar dbSNP
9g.127825273_127825275delinsTCA2695211294ENGc.226_228delinsA (p.Tyr76SerfsTer?)
c.772_774delinsA (p.Tyr258SerfsTer?)
9g.127825274T>ACA374983255ENGc.227A>T (p.Tyr76Phe)
c.773A>T (p.Tyr258Phe)
9g.127825274T>CCA374983250ENGc.227A>G (p.Tyr76Cys)
c.773A>G (p.Tyr258Cys)
 dbSNP gnomAD v2 gnomAD v4
9g.127825274T>GCA374983253ENGc.227A>C (p.Tyr76Ser)
c.773A>C (p.Tyr258Ser)
9g.127825274T=CA1879974468ENGc.227A= (p.Tyr76=)
c.773A= (p.Tyr258=)
9g.127825274_127825275delinsTACA1879974470ENGc.226_227delinsTA (p.Tyr76=)
c.772_773delinsTA (p.Tyr258=)
9g.127825275delCA1139661210ENGc.226del (p.Tyr76ThrfsTer?)
c.772del (p.Tyr258ThrfsTer?)
 ClinVar dbSNP gnomAD v4
9g.127825275A=CA1879974485ENGc.226T= (p.Tyr76=)
c.772T= (p.Tyr258=)
9g.127825275A>CCA5252986ENGc.226T>G (p.Tyr76Asp)
c.772T>G (p.Tyr258Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127825275A>GCA374983259ENGc.226T>C (p.Tyr76His)
c.772T>C (p.Tyr258His)
9g.127825275A>TCA374983261ENGc.226T>A (p.Tyr76Asn)
c.772T>A (p.Tyr258Asn)
9g.127825275_127825276delinsAGCA1879974512ENGc.225_226delinsCT (p.Pro75=)
c.771_772delinsCT (p.Pro257=)
9g.127825276G>ACA467475099ENGc.225C>T (p.Pro75=)
c.771C>T (p.Pro257=)
 dbSNP gnomAD v4
9g.127825276G>CCA467475100ENGc.225C>G (p.Pro75=)
c.771C>G (p.Pro257=)
9g.127825276G=CA1879974523ENGc.225C= (p.Pro75=)
c.771C= (p.Pro257=)
9g.127825276G>TCA467475101ENGc.225C>A (p.Pro75=)
c.771C>A (p.Pro257=)
9g.127825281dupCA915947179ENGc.225dup (p.Tyr76LeufsTer?)
c.771dup (p.Tyr258LeufsTer?)
 ClinVar dbSNP gnomAD v4
9g.127825281delCA915947178ENGc.225del (p.Tyr76ThrfsTer?)
c.771del (p.Tyr258ThrfsTer?)
 ClinVar dbSNP
9g.127825280_127825281delCA2573143977ENGc.224_225del (p.Pro75LeufsTer?)
c.770_771del (p.Pro257LeufsTer?)
 ClinVar dbSNP
9g.127825276_127825285delCA2691809073ENGc.216_225del (p.Gln72HisfsTer?)
c.762_771del (p.Gln254HisfsTer?)
 gnomAD v4
9g.127825277G>ACA5252987ENGc.224C>T (p.Pro75Leu)
c.770C>T (p.Pro257Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.127825277G>CCA200313445ENGc.224C>G (p.Pro75Arg)
c.770C>G (p.Pro257Arg)
 dbSNP gnomAD v2 gnomAD v4
9g.127825277G=CA1879974532ENGc.224C= (p.Pro75=)
c.770C= (p.Pro257=)
9g.127825277G>TCA374983268ENGc.224C>A (p.Pro75His)
c.770C>A (p.Pro257His)
 dbSNP gnomAD v4 COSMIC COSMIC
9g.127825278G>ACA374983271ENGc.223C>T (p.Pro75Ser)
c.769C>T (p.Pro257Ser)
9g.127825278G>CCA374983275ENGc.223C>G (p.Pro75Ala)
c.769C>G (p.Pro257Ala)
 ClinVar dbSNP
9g.127825278G=CA1879974539ENGc.223C= (p.Pro75=)
c.769C= (p.Pro257=)
9g.127825278G>TCA374983277ENGc.223C>A (p.Pro75Thr)
c.769C>A (p.Pro257Thr)
9g.127825278_127825295delinsGGGGACCCTGCAGGATGACA1879974543ENGc.206_223delinsTCATCCTGCAGGGTCCCC (p.Leu69=)
c.752_769delinsTCATCCTGCAGGGTCCCC (p.Leu251=)
9g.127825279G>ACA5252988ENGc.222C>T (p.Pro74=)
c.768C>T (p.Pro256=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.127825279G>CCA467475102ENGc.222C>G (p.Pro74=)
c.768C>G (p.Pro256=)
9g.127825279G=CA1879974550ENGc.222C= (p.Pro74=)
c.768C= (p.Pro256=)
9g.127825279G>TCA467475103ENGc.222C>A (p.Pro74=)
c.768C>A (p.Pro256=)
9g.127825281_127825297delCA1139661211ENGc.206_222del (p.Leu69ProfsTer?)
c.752_768del (p.Leu251ProfsTer?)
 ClinVar dbSNP
9g.127825280G>ACA374983286ENGc.221C>T (p.Pro74Leu)
c.767C>T (p.Pro256Leu)
 gnomAD v4
9g.127825280G>CCA374983284ENGc.221C>G (p.Pro74Arg)
c.767C>G (p.Pro256Arg)
 gnomAD v4
9g.127825280G>TCA374983280ENGc.221C>A (p.Pro74His)
c.767C>A (p.Pro256His)
 gnomAD v4
9g.127825280_127825281delinsTCA2580079662ENGc.220_221delinsA (p.Pro74ThrfsTer?)
c.766_767delinsA (p.Pro256ThrfsTer?)
 ClinVar
9g.127825280_127825285delinsGGACCCCA1879974555ENGc.216_221delinsGGGTCC (p.Gln72=)
c.762_767delinsGGGTCC (p.Gln254=)
9g.127825281_127825287dupCA1139661212ENGc.215_221dup (p.Pro75GlyfsTer?)
c.761_767dup (p.Pro257GlyfsTer?)
 ClinVar dbSNP
9g.127825281G>ACA5252990ENGc.220C>T (p.Pro74Ser)
c.766C>T (p.Pro256Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825281G>CCA374983287ENGc.220C>G (p.Pro74Ala)
c.766C>G (p.Pro256Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127825281G=CA1879974566ENGc.220C= (p.Pro74=)
c.766C= (p.Pro256=)
9g.127825281G>TCA5252989ENGc.220C>A (p.Pro74Thr)
c.766C>A (p.Pro256Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825281_127825282delinsGACA1879974573ENGc.219_220delinsTC (p.Gly73=)
c.765_766delinsTC (p.Gly255=)
9g.127825281_127825285delCA1129279787ENGc.216_220del (p.Gln72HisfsTer?)
c.762_766del (p.Gln254HisfsTer?)
 dbSNP gnomAD v3 gnomAD v4
9g.127825282delCA645509432ENGc.219del (p.Tyr76ThrfsTer?)
c.765del (p.Tyr258ThrfsTer?)
 ClinVar dbSNP
9g.127825282A=CA1879974582ENGc.219T= (p.Gly73=)
c.765T= (p.Gly255=)
9g.127825282A>CCA467475104ENGc.219T>G (p.Gly73=)
c.765T>G (p.Gly255=)
9g.127825282A>GCA5252991ENGc.219T>C (p.Gly73=)
c.765T>C (p.Gly255=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127825282A>TCA467475105ENGc.219T>A (p.Gly73=)
c.765T>A (p.Gly255=)
9g.127825283C>ACA374983293ENGc.218G>T (p.Gly73Val)
c.764G>T (p.Gly255Val)
 ClinVar dbSNP
9g.127825283C>GCA374983296ENGc.218G>C (p.Gly73Ala)
c.764G>C (p.Gly255Ala)
9g.127825283C>TCA374983298ENGc.218G>A (p.Gly73Asp)
c.764G>A (p.Gly255Asp)
 COSMIC COSMIC
9g.127825284C>ACA374983301ENGc.217G>T (p.Gly73Cys)
c.763G>T (p.Gly255Cys)
 ClinVar dbSNP
9g.127825284C=CA1879974586ENGc.217G= (p.Gly73=)
c.763G= (p.Gly255=)
9g.127825284C>GCA374983303ENGc.217G>C (p.Gly73Arg)
c.763G>C (p.Gly255Arg)
9g.127825284C>TCA374983305ENGc.217G>A (p.Gly73Ser)
c.763G>A (p.Gly255Ser)
9g.127825285C>ACA374983308ENGc.216G>T (p.Gln72His)
c.762G>T (p.Gln254His)
9g.127825285C>GCA374983310ENGc.216G>C (p.Gln72His)
c.762G>C (p.Gln254His)
9g.127825285C>TCA467475106ENGc.216G>A (p.Gln72=)
c.762G>A (p.Gln254=)
9g.127825286delCA2579986000ENGc.215del (p.Gln72ArgfsTer?)
c.761del (p.Gln254ArgfsTer?)
9g.127825286T>ACA374983318ENGc.215A>T (p.Gln72Leu)
c.761A>T (p.Gln254Leu)
9g.127825286T>CCA374983316ENGc.215A>G (p.Gln72Arg)
c.761A>G (p.Gln254Arg)
 dbSNP gnomAD v4
9g.127825286T>GCA374983313ENGc.215A>C (p.Gln72Pro)
c.761A>C (p.Gln254Pro)
9g.127825286T=CA1879974592ENGc.215A= (p.Gln72=)
c.761A= (p.Gln254=)
9g.127825286_127825287insTTTTTCAACA1129279796ENGc.214_215insTTGAAAAA (p.Gln72LeufsTer?)
c.760_761insTTGAAAAA (p.Gln254LeufsTer?)
 dbSNP gnomAD v3 gnomAD v4
9g.127825286_127825287insTTTTTTTTTCAACA2691809074ENGc.214_215insTTGAAAAAAAAA (p.Gln72delinsLeuGluLysLysLys)
c.760_761insTTGAAAAAAAAA (p.Gln254delinsLeuGluLysLysLys)
 gnomAD v4
9g.127825286_127825287insTTTTTTTTTTCAACA2691809075ENGc.214_215insTTGAAAAAAAAAA (p.Gln72LeufsTer?)
c.760_761insTTGAAAAAAAAAA (p.Gln254LeufsTer?)
 gnomAD v4
9g.127825287G>ACA374983319ENGc.214C>T (p.Gln72Ter)
c.760C>T (p.Gln254Ter)
 ClinVar dbSNP
9g.127825287G>CCA374983321ENGc.214C>G (p.Gln72Glu)
c.760C>G (p.Gln254Glu)
9g.127825287G=CA1879974602ENGc.214C= (p.Gln72=)
c.760C= (p.Gln254=)
9g.127825287G>TCA374983323ENGc.214C>A (p.Gln72Lys)
c.760C>A (p.Gln254Lys)
 gnomAD v4
9g.127825288C>ACA467475107ENGc.213G>T (p.Leu71=)
c.759G>T (p.Leu253=)
9g.127825288C>GCA467475108ENGc.213G>C (p.Leu71=)
c.759G>C (p.Leu253=)
9g.127825288C>TCA467475109ENGc.213G>A (p.Leu71=)
c.759G>A (p.Leu253=)
9g.127825289A>CCA374983324ENGc.212T>G (p.Leu71Arg)
c.758T>G (p.Leu253Arg)
9g.127825289A>GCA374983325ENGc.212T>C (p.Leu71Pro)
c.758T>C (p.Leu253Pro)
 ClinVar dbSNP
9g.127825289A>TCA374983326ENGc.212T>A (p.Leu71Gln)
c.758T>A (p.Leu253Gln)
9g.127825289_127825293delinsAGGATCA1879974608ENGc.208_212delinsATCCT (p.Ile70=)
c.754_758delinsATCCT (p.Ile252=)
9g.127825290G>ACA467475110ENGc.211C>T (p.Leu71=)
c.757C>T (p.Leu253=)
9g.127825290G>CCA5252992ENGc.211C>G (p.Leu71Val)
c.757C>G (p.Leu253Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127825290G=CA1879974610ENGc.211C= (p.Leu71=)
c.757C= (p.Leu253=)
9g.127825290G>TCA374983328ENGc.211C>A (p.Leu71Met)
c.757C>A (p.Leu253Met)
9g.127825291_127825294delCA1129279798ENGc.208_211del (p.Ile70CysfsTer?)
c.754_757del (p.Ile252CysfsTer?)
 dbSNP gnomAD v3 gnomAD v4
9g.127825291G>ACA467475112ENGc.210C>T (p.Ile70=)
c.756C>T (p.Ile252=)
9g.127825291G>CCA374983330ENGc.210C>G (p.Ile70Met)
c.756C>G (p.Ile252Met)
9g.127825291G>TCA467475111ENGc.210C>A (p.Ile70=)
c.756C>A (p.Ile252=)
9g.127825293_127825295delCA2739265071ENGc.208_210del (p.Ile70del)
c.754_756del (p.Ile252del)
 ClinVar
9g.127825292A>CCA374983333ENGc.209T>G (p.Ile70Ser)
c.755T>G (p.Ile252Ser)
9g.127825292A>GCA374983335ENGc.209T>C (p.Ile70Thr)
c.755T>C (p.Ile252Thr)
 ClinVar dbSNP
9g.127825292A>TCA374983337ENGc.209T>A (p.Ile70Asn)
c.755T>A (p.Ile252Asn)
9g.127825293T>ACA5252993ENGc.208A>T (p.Ile70Phe)
c.754A>T (p.Ile252Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825293T>CCA374983342ENGc.208A>G (p.Ile70Val)
c.754A>G (p.Ile252Val)
 dbSNP gnomAD v4
9g.127825293T>GCA374983340ENGc.208A>C (p.Ile70Leu)
c.754A>C (p.Ile252Leu)
9g.127825293T=CA1879974620ENGc.208A= (p.Ile70=)
c.754A= (p.Ile252=)
9g.127825293_127825296delCA2538918841ENGc.205_208del (p.Leu69SerfsTer?)
c.751_754del (p.Leu251SerfsTer?)
9g.127825294G>ACA467475115ENGc.207C>T (p.Leu69=)
c.753C>T (p.Leu251=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.127825294G>CCA467475114ENGc.207C>G (p.Leu69=)
c.753C>G (p.Leu251=)
9g.127825294G=CA1879974626ENGc.207C= (p.Leu69=)
c.753C= (p.Leu251=)
9g.127825294G>TCA467475113ENGc.207C>A (p.Leu69=)
c.753C>A (p.Leu251=)
9g.127825296_127825298delCA2695211295ENGc.205_207del (p.Leu69del)
c.751_753del (p.Leu251del)
9g.127825295A=CA1879974634ENGc.206T= (p.Leu69=)
c.752T= (p.Leu251=)
9g.127825295A>CCA374983346ENGc.206T>G (p.Leu69Arg)
c.752T>G (p.Leu251Arg)
9g.127825295A>GCA374983350ENGc.206T>C (p.Leu69Pro)
c.752T>C (p.Leu251Pro)
 ClinVar dbSNP COSMIC
9g.127825295A>TCA374983348ENGc.206T>A (p.Leu69His)
c.752T>A (p.Leu251His)
 ClinVar
9g.127825296G>ACA5252994ENGc.205C>T (p.Leu69Phe)
c.751C>T (p.Leu251Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825296G>CCA374983353ENGc.205C>G (p.Leu69Val)
c.751C>G (p.Leu251Val)
9g.127825296G=CA1879974641ENGc.205C= (p.Leu69=)
c.751C= (p.Leu251=)
9g.127825296G>TCA374983354ENGc.205C>A (p.Leu69Ile)
c.751C>A (p.Leu251Ile)
9g.127825297G>ACA467475116ENGc.204C>T (p.Val68=)
c.750C>T (p.Val250=)
9g.127825297G>CCA467475118ENGc.204C>G (p.Val68=)
c.750C>G (p.Val250=)
9g.127825297G>TCA467475117ENGc.204C>A (p.Val68=)
c.750C>A (p.Val250=)
9g.127825298A>CCA374983355ENGc.203T>G (p.Val68Gly)
c.749T>G (p.Val250Gly)
9g.127825298A>GCA374983356ENGc.203T>C (p.Val68Ala)
c.749T>C (p.Val250Ala)
9g.127825298A>TCA374983357ENGc.203T>A (p.Val68Asp)
c.749T>A (p.Val250Asp)
9g.127825298_127825299delinsGGCA2580612132ENGc.202_203delinsCC (p.Val68Pro)
c.748_749delinsCC (p.Val250Pro)
9g.127825299C>ACA374983358ENGc.202G>T (p.Val68Phe)
c.748G>T (p.Val250Phe)
 gnomAD v4
9g.127825299C=CA1879974649ENGc.202G= (p.Val68=)
c.748G= (p.Val250=)
9g.127825299C>GCA374983359ENGc.202G>C (p.Val68Leu)
c.748G>C (p.Val250Leu)
9g.127825299C>TCA5252995ENGc.202G>A (p.Val68Ile)
c.748G>A (p.Val250Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.127825300G>ACA5252996ENGc.201C>T (p.Ala67=)
c.747C>T (p.Ala249=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825300G>CCA467475119ENGc.201C>G (p.Ala67=)
c.747C>G (p.Ala249=)
 ClinVar gnomAD v4 COSMIC COSMIC
9g.127825300G=CA1879974655ENGc.201C= (p.Ala67=)
c.747C= (p.Ala249=)
9g.127825300G>TCA467475120ENGc.201C>A (p.Ala67=)
c.747C>A (p.Ala249=)
9g.127825301G>ACA374983362ENGc.200C>T (p.Ala67Val)
c.746C>T (p.Ala249Val)
9g.127825301G>CCA374983361ENGc.200C>G (p.Ala67Gly)
c.746C>G (p.Ala249Gly)
9g.127825301G>TCA374983360ENGc.200C>A (p.Ala67Asp)
c.746C>A (p.Ala249Asp)
9g.127825302C>ACA374983363ENGc.199G>T (p.Ala67Ser)
c.745G>T (p.Ala249Ser)
 gnomAD v4
9g.127825302C>GCA374983364ENGc.199G>C (p.Ala67Pro)
c.745G>C (p.Ala249Pro)
9g.127825302C>TCA374983365ENGc.199G>A (p.Ala67Thr)
c.745G>A (p.Ala249Thr)
9g.127825303A>CCA374983366ENGc.198T>G (p.Asp66Glu)
c.744T>G (p.Asp248Glu)
9g.127825303A>GCA467475121ENGc.198T>C (p.Asp66=)
c.744T>C (p.Asp248=)
9g.127825303A>TCA374983367ENGc.198T>A (p.Asp66Glu)
c.744T>A (p.Asp248Glu)
9g.127825303dupCA2691809076ENGc.198dup (p.Ala67CysfsTer?)
c.744dup (p.Ala249CysfsTer?)
 gnomAD v4
9g.127825303_127825304delinsATCA1879974665ENGc.197_198delinsAT (p.Asp66=)
c.743_744delinsAT (p.Asp248=)
9g.127825304delCA915947180ENGc.197del (p.Asp66ValfsTer?)
c.743del (p.Asp248ValfsTer?)
 ClinVar dbSNP
9g.127825304T>ACA374983368ENGc.197A>T (p.Asp66Val)
c.743A>T (p.Asp248Val)
 gnomAD v4
9g.127825304T>CCA374983369ENGc.197A>G (p.Asp66Gly)
c.743A>G (p.Asp248Gly)
9g.127825304T>GCA374983370ENGc.197A>C (p.Asp66Ala)
c.743A>C (p.Asp248Ala)
9g.127825304T=CA1879974677ENGc.197A= (p.Asp66=)
c.743A= (p.Asp248=)
9g.127825304_127825305insACA645549770ENGc.196_197insT (p.Asp66ValfsTer?)
c.742_743insT (p.Asp248ValfsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.127825305C>ACA374983371ENGc.196G>T (p.Asp66Tyr)
c.742G>T (p.Asp248Tyr)
9g.127825305C=CA1879974690ENGc.196G= (p.Asp66=)
c.742G= (p.Asp248=)
9g.127825305C>GCA374983372ENGc.196G>C (p.Asp66His)
c.742G>C (p.Asp248His)
 ClinVar
9g.127825305C>TCA5252997ENGc.196G>A (p.Asp66Asn)
c.742G>A (p.Asp248Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.127825306G>ACA200313483ENGc.195C>T (p.Leu65=)
c.741C>T (p.Leu247=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127825306G>CCA467475122ENGc.195C>G (p.Leu65=)
c.741C>G (p.Leu247=)
9g.127825306G=CA1879974700ENGc.195C= (p.Leu65=)
c.741C= (p.Leu247=)
9g.127825306G>TCA467475123ENGc.195C>A (p.Leu65=)
c.741C>A (p.Leu247=)
 gnomAD v4
9g.127825307delCA2580079669ENGc.194del (p.Leu65ProfsTer?)
c.740del (p.Leu247ProfsTer?)
 ClinVar
9g.127825307A>CCA374983374ENGc.194T>G (p.Leu65Arg)
c.740T>G (p.Leu247Arg)
9g.127825307A>GCA374983375ENGc.194T>C (p.Leu65Pro)
c.740T>C (p.Leu247Pro)
9g.127825307A>TCA374983373ENGc.194T>A (p.Leu65His)
c.740T>A (p.Leu247His)
9g.127825308G>ACA374983376ENGc.193C>T (p.Leu65Phe)
c.739C>T (p.Leu247Phe)
9g.127825308G>CCA374983377ENGc.193C>G (p.Leu65Val)
c.739C>G (p.Leu247Val)
9g.127825308G>TCA374983378ENGc.193C>A (p.Leu65Ile)
c.739C>A (p.Leu247Ile)
9g.127825309A=CA1879974704ENGc.192T= (p.Asp64=)
c.738T= (p.Asp246=)
9g.127825309A>CCA374983379ENGc.192T>G (p.Asp64Glu)
c.738T>G (p.Asp246Glu)
9g.127825309A>GCA467475124ENGc.192T>C (p.Asp64=)
c.738T>C (p.Asp246=)
9g.127825309A>TCA374983380ENGc.192T>A (p.Asp64Glu)
c.738T>A (p.Asp246Glu)
 dbSNP gnomAD v3 gnomAD v4
9g.127825310T>ACA374983383ENGc.191A>T (p.Asp64Val)
c.737A>T (p.Asp246Val)
 dbSNP
9g.127825310T>CCA374983382ENGc.191A>G (p.Asp64Gly)
c.737A>G (p.Asp246Gly)
9g.127825310T>GCA374983381ENGc.191A>C (p.Asp64Ala)
c.737A>C (p.Asp246Ala)
 gnomAD v3 gnomAD v4
9g.127825310T=CA1879974708ENGc.191A= (p.Asp64=)
c.737A= (p.Asp246=)
9g.127825310_127825311delinsTCCA1879974707ENGc.190_191delinsGA (p.Asp64=)
c.736_737delinsGA (p.Asp246=)
9g.127825311C>ACA374983384ENGc.190G>T (p.Asp64Tyr)
c.736G>T (p.Asp246Tyr)
 gnomAD v4
9g.127825311C=CA1879974722ENGc.190G= (p.Asp64=)
c.736G= (p.Asp246=)
9g.127825311C>GCA374983385ENGc.190G>C (p.Asp64His)
c.736G>C (p.Asp246His)
9g.127825311C>TCA200313484ENGc.190G>A (p.Asp64Asn)
c.736G>A (p.Asp246Asn)
 dbSNP
9g.127825314delCA658656035ENGc.190del (p.Asp64IlefsTer?)
c.736del (p.Asp246IlefsTer?)
 ClinVar dbSNP
9g.127825312C>ACA467475125ENGc.189G>T (p.Gly63=)
c.735G>T (p.Gly245=)
9g.127825312C=CA1879974728ENGc.189G= (p.Gly63=)
c.735G= (p.Gly245=)
9g.127825312C>GCA467475126ENGc.189G>C (p.Gly63=)
c.735G>C (p.Gly245=)
9g.127825312C>TCA200313487ENGc.189G>A (p.Gly63=)
c.735G>A (p.Gly245=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127825313C>ACA374983386ENGc.188G>T (p.Gly63Val)
c.734G>T (p.Gly245Val)
9g.127825313C>GCA374983387ENGc.188G>C (p.Gly63Ala)
c.734G>C (p.Gly245Ala)
9g.127825313C>TCA374983388ENGc.188G>A (p.Gly63Glu)
c.734G>A (p.Gly245Glu)
 gnomAD v4
9g.127825314C>ACA374983389ENGc.187G>T (p.Gly63Trp)
c.733G>T (p.Gly245Trp)
9g.127825314C=CA1879974737ENGc.187G= (p.Gly63=)
c.733G= (p.Gly245=)
9g.127825314C>GCA374983390ENGc.187G>C (p.Gly63Arg)
c.733G>C (p.Gly245Arg)
9g.127825314C>TCA5252998ENGc.187G>A (p.Gly63Arg)
c.733G>A (p.Gly245Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.127825314_127825317delCA2568443199ENGc.184_187del (p.Pro62GlyfsTer?)
c.730_733del (p.Pro244GlyfsTer?)
9g.127825315G>ACA5252999ENGc.186C>T (p.Pro62=)
c.732C>T (p.Pro244=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825315G>CCA5253000ENGc.186C>G (p.Pro62=)
c.732C>G (p.Pro244=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127825315G=CA1879974748ENGc.186C= (p.Pro62=)
c.732C= (p.Pro244=)
9g.127825315G>TCA467475127ENGc.186C>A (p.Pro62=)
c.732C>A (p.Pro244=)
9g.127825317dupCA658656036ENGc.186dup (p.Gly63ArgfsTer?)
c.732dup (p.Gly245ArgfsTer?)
 ClinVar dbSNP
9g.127825316G>ACA374983391ENGc.185C>T (p.Pro62Leu)
c.731C>T (p.Pro244Leu)
 dbSNP gnomAD v3 gnomAD v4
9g.127825316G>CCA374983392ENGc.185C>G (p.Pro62Arg)
c.731C>G (p.Pro244Arg)
9g.127825316G=CA1879974755ENGc.185C= (p.Pro62=)
c.731C= (p.Pro244=)
9g.127825316G>TCA374983393ENGc.185C>A (p.Pro62His)
c.731C>A (p.Pro244His)
9g.127825317G>ACA374983394ENGc.184C>T (p.Pro62Ser)
c.730C>T (p.Pro244Ser)
 dbSNP
9g.127825317G>CCA374983395ENGc.184C>G (p.Pro62Ala)
c.730C>G (p.Pro244Ala)
 gnomAD v4
9g.127825317G=CA1879974756ENGc.184C= (p.Pro62=)
c.730C= (p.Pro244=)
9g.127825317G>TCA374983396ENGc.184C>A (p.Pro62Thr)
c.730C>A (p.Pro244Thr)
 gnomAD v4
9g.127825318T>ACA467475130ENGc.183A>T (p.Ala61=)
c.729A>T (p.Ala243=)
9g.127825318T>CCA467475129ENGc.183A>G (p.Ala61=)
c.729A>G (p.Ala243=)
9g.127825318T>GCA467475128ENGc.183A>C (p.Ala61=)
c.729A>C (p.Ala243=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.127825318T=CA1879974759ENGc.183A= (p.Ala61=)
c.729A= (p.Ala243=)
9g.127825318_127825319insCGCA2739291266ENGc.182_183insCG (p.Pro62AspfsTer?)
c.728_729insCG (p.Pro244AspfsTer?)
9g.127825318_127825319insCAAACA2509547280ENGc.182_183insTTTG (p.Pro62LeufsTer?)
c.728_729insTTTG (p.Pro244LeufsTer?)
9g.127825319G>ACA200313501ENGc.182C>T (p.Ala61Val)
c.728C>T (p.Ala243Val)
 ClinVar dbSNP gnomAD v4
9g.127825319G>CCA374983397ENGc.182C>G (p.Ala61Gly)
c.728C>G (p.Ala243Gly)
9g.127825319G=CA1879974765ENGc.182C= (p.Ala61=)
c.728C= (p.Ala243=)
9g.127825319G>TCA374983398ENGc.182C>A (p.Ala61Glu)
c.728C>A (p.Ala243Glu)
9g.127825320C>ACA374983399ENGc.181G>T (p.Ala61Ser)
c.727G>T (p.Ala243Ser)
9g.127825320C=CA1879974770ENGc.181G= (p.Ala61=)
c.727G= (p.Ala243=)
9g.127825320C>GCA5253002ENGc.181G>C (p.Ala61Pro)
c.727G>C (p.Ala243Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127825320C>TCA5253001ENGc.181G>A (p.Ala61Thr)
c.727G>A (p.Ala243Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825321G>ACA5253003ENGc.180C>T (p.Cys60=)
c.726C>T (p.Cys242=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825321G>CCA374983401ENGc.180C>G (p.Cys60Trp)
c.726C>G (p.Cys242Trp)
9g.127825321G=CA1879974779ENGc.180C= (p.Cys60=)
c.726C= (p.Cys242=)
9g.127825321G>TCA374983400ENGc.180C>A (p.Cys60Ter)
c.726C>A (p.Cys242Ter)
 ClinVar dbSNP
9g.127825321_127825326delinsGCAGCTCA1879974778ENGc.175_180delinsAGCTGC (p.Ser59=)
c.721_726delinsAGCTGC (p.Ser241=)
9g.127825322C>ACA374983402ENGc.179G>T (p.Cys60Phe)
c.725G>T (p.Cys242Phe)
 gnomAD v4
9g.127825322C>GCA374983404ENGc.179G>C (p.Cys60Ser)
c.725G>C (p.Cys242Ser)
9g.127825322C>TCA374983403ENGc.179G>A (p.Cys60Tyr)
c.725G>A (p.Cys242Tyr)
9g.127825325_127825329delCA16618749ENGc.175_179del (p.Ser59ArgfsTer?)
c.721_725del (p.Ser241ArgfsTer?)
 ClinVar dbSNP
9g.127825323A>CCA374983405ENGc.178T>G (p.Cys60Gly)
c.724T>G (p.Cys242Gly)
9g.127825323A>GCA374983406ENGc.178T>C (p.Cys60Arg)
c.724T>C (p.Cys242Arg)
9g.127825323A>TCA374983407ENGc.178T>A (p.Cys60Ser)
c.724T>A (p.Cys242Ser)
9g.127825324G>ACA467475131ENGc.177C>T (p.Ser59=)
c.723C>T (p.Ser241=)
 dbSNP gnomAD v2 gnomAD v4
9g.127825324G>CCA374983408ENGc.177C>G (p.Ser59Arg)
c.723C>G (p.Ser241Arg)
9g.127825324G=CA1879974790ENGc.177C= (p.Ser59=)
c.723C= (p.Ser241=)
9g.127825324G>TCA374983409ENGc.177C>A (p.Ser59Arg)
c.723C>A (p.Ser241Arg)
9g.127825325C>ACA374983410ENGc.176G>T (p.Ser59Ile)
c.722G>T (p.Ser241Ile)
9g.127825325C=CA1879974792ENGc.176G= (p.Ser59=)
c.722G= (p.Ser241=)
9g.127825325C>GCA374983411ENGc.176G>C (p.Ser59Thr)
c.722G>C (p.Ser241Thr)
9g.127825325C>TCA16612707ENGc.176G>A (p.Ser59Asn)
c.722G>A (p.Ser241Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.127825326T>ACA374983412ENGc.175A>T (p.Ser59Cys)
c.721A>T (p.Ser241Cys)
9g.127825326T>CCA374983413ENGc.175A>G (p.Ser59Gly)
c.721A>G (p.Ser241Gly)
9g.127825326T>GCA374983414ENGc.175A>C (p.Ser59Arg)
c.721A>C (p.Ser241Arg)
9g.127825327C>ACA467475132ENGc.174G>T (p.Leu58=)
c.720G>T (p.Leu240=)
9g.127825327C=CA1879974805ENGc.174G= (p.Leu58=)
c.720G= (p.Leu240=)
9g.127825327C>GCA467475133ENGc.174G>C (p.Leu58=)
c.720G>C (p.Leu240=)
 ClinVar dbSNP gnomAD v4
9g.127825327C>TCA467475134ENGc.174G>A (p.Leu58=)
c.720G>A (p.Leu240=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.127825328A>CCA374983415ENGc.173T>G (p.Leu58Arg)
c.719T>G (p.Leu240Arg)
9g.127825328A>GCA374983416ENGc.173T>C (p.Leu58Pro)
c.719T>C (p.Leu240Pro)
9g.127825328A>TCA374983417ENGc.173T>A (p.Leu58Gln)
c.719T>A (p.Leu240Gln)
9g.127825329G>ACA467475135ENGc.172C>T (p.Leu58=)
c.718C>T (p.Leu240=)
 ClinVar
9g.127825329G>CCA5253004ENGc.172C>G (p.Leu58Val)
c.718C>G (p.Leu240Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127825329G=CA1879974810ENGc.172C= (p.Leu58=)
c.718C= (p.Leu240=)
9g.127825329G>TCA374983418ENGc.172C>A (p.Leu58Met)
c.718C>A (p.Leu240Met)
 gnomAD v3 gnomAD v4
9g.127825330T>ACA374983419ENGc.171A>T (p.Glu57Asp)
c.717A>T (p.Glu239Asp)
9g.127825330T>CCA467475136ENGc.171A>G (p.Glu57=)
c.717A>G (p.Glu239=)
9g.127825330T>GCA374983420ENGc.171A>C (p.Glu57Asp)
c.717A>C (p.Glu239Asp)
 dbSNP gnomAD v3 gnomAD v4
9g.127825330T=CA1879974814ENGc.171A= (p.Glu57=)
c.717A= (p.Glu239=)
9g.127825331T>ACA374983421ENGc.170A>T (p.Glu57Val)
c.716A>T (p.Glu239Val)
 ClinVar
9g.127825331T>CCA374983422ENGc.170A>G (p.Glu57Gly)
c.716A>G (p.Glu239Gly)
 ClinVar
9g.127825331T>GCA374983423ENGc.170A>C (p.Glu57Ala)
c.716A>C (p.Glu239Ala)
9g.127825331T=CA1879974817ENGc.170A= (p.Glu57=)
c.716A= (p.Glu239=)
9g.127825332C>ACA16618750ENGc.169G>T (p.Glu57Ter)
c.715G>T (p.Glu239Ter)
 ClinVar dbSNP
9g.127825332C=CA1879974828ENGc.169G= (p.Glu57=)
c.715G= (p.Glu239=)
9g.127825332C>GCA374983424ENGc.169G>C (p.Glu57Gln)
c.715G>C (p.Glu239Gln)
9g.127825332C>TCA374983425ENGc.169G>A (p.Glu57Lys)
c.715G>A (p.Glu239Lys)
9g.127825333dupCA16612595ENGc.169dup (p.Glu57GlyfsTer?)
c.715dup (p.Glu239GlyfsTer?)
 ClinVar dbSNP
9g.127825333C>ACA467475137ENGc.168G>T (p.Val56=)
c.714G>T (p.Val238=)
9g.127825333C>GCA467475138ENGc.168G>C (p.Val56=)
c.714G>C (p.Val238=)
9g.127825333C>TCA467475139ENGc.168G>A (p.Val56=)
c.714G>A (p.Val238=)
 gnomAD v4
9g.127825337_127825342dupCA5253005ENGc.163_168dup (p.Val56_Glu57insLysVal)
c.709_714dup (p.Val238_Glu239insLysVal)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127825334A=CA1879974840ENGc.167T= (p.Val56=)
c.713T= (p.Val238=)
9g.127825334A>CCA374983426ENGc.167T>G (p.Val56Gly)
c.713T>G (p.Val238Gly)
9g.127825334A>GCA374983427ENGc.167T>C (p.Val56Ala)
c.713T>C (p.Val238Ala)
9g.127825334A>TCA16612408ENGc.167T>A (p.Val56Glu)
c.713T>A (p.Val238Glu)
 ClinVar dbSNP
9g.127825334_127825335delinsACCA1879974837ENGc.166_167delinsGT (p.Val56=)
c.712_713delinsGT (p.Val238=)
9g.127825335C>ACA374983430ENGc.166G>T (p.Val56Leu)
c.712G>T (p.Val238Leu)
 ClinVar
9g.127825335C>GCA374983429ENGc.166G>C (p.Val56Leu)
c.712G>C (p.Val238Leu)
9g.127825335C>TCA374983428ENGc.166G>A (p.Val56Met)
c.712G>A (p.Val238Met)
 gnomAD v4
9g.127825336delCA10603150ENGc.166del (p.Val56TrpfsTer3)
c.712del (p.Val238TrpfsTer3)
 ClinVar dbSNP
9g.127825336C>ACA374983432ENGc.165G>T (p.Lys55Asn)
c.711G>T (p.Lys237Asn)
9g.127825336C>GCA374983431ENGc.165G>C (p.Lys55Asn)
c.711G>C (p.Lys237Asn)
9g.127825336C>TCA467475140ENGc.165G>A (p.Lys55=)
c.711G>A (p.Lys237=)
9g.127825337T>ACA374983433ENGc.164A>T (p.Lys55Met)
c.710A>T (p.Lys237Met)
9g.127825337T>CCA374983434ENGc.164A>G (p.Lys55Arg)
c.710A>G (p.Lys237Arg)
 gnomAD v4
9g.127825337T>GCA374983435ENGc.164A>C (p.Lys55Thr)
c.710A>C (p.Lys237Thr)
9g.127825337_127825343delinsTTCACCGCA1879974849ENGc.158_164delinsCGGTGAA (p.Thr53=)
c.704_710delinsCGGTGAA (p.Thr235=)
9g.127825338T>ACA374983436ENGc.163A>T (p.Lys55Ter)
c.709A>T (p.Lys237Ter)
9g.127825338T>CCA374983437ENGc.163A>G (p.Lys55Glu)
c.709A>G (p.Lys237Glu)
9g.127825338T>GCA374983438ENGc.163A>C (p.Lys55Gln)
c.709A>C (p.Lys237Gln)
9g.127825338_127825341delinsTCACCA1879974857ENGc.160_163delinsGTGA (p.Val54=)
c.706_709delinsGTGA (p.Val236=)
9g.127825346_127825351dupCA2691809077ENGc.158_163dup (p.Val54_Lys55insThrVal)
c.704_709dup (p.Val236_Lys237insThrVal)
 gnomAD v4
9g.127825346_127825351delCA915947181ENGc.158_163del (p.Thr53_Val54del)
c.704_709del (p.Thr235_Val236del)
 ClinVar dbSNP

Number of alleles fetched