Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26477630G>ACA1563969OTOFc.2315+19C>T (n.2315+19C>T)
c.74+19C>T (n.74+19C>T)
c.245+19C>T (n.245+19C>T)
c.2360+19C>T (n.2360+19C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477630G=CA1239830366OTOFc.2315+19C= (n.2315+19C=)
c.74+19C= (n.74+19C=)
c.245+19C= (n.245+19C=)
c.2360+19C= (n.2360+19C=)
2g.26477633_26477635delCA2658238248OTOFc.2315+17_2315+19del (n.2315+17_2315+19del)
c.74+17_74+19del (n.74+17_74+19del)
c.245+17_245+19del (n.245+17_245+19del)
c.2360+17_2360+19del (n.2360+17_2360+19del)
 gnomAD v4
2g.26477631C>ACA1563970OTOFc.2315+18G>T (n.2315+18G>T)
c.74+18G>T (n.74+18G>T)
c.245+18G>T (n.245+18G>T)
c.2360+18G>T (n.2360+18G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477631C=CA1239830367OTOFc.2315+18G= (n.2315+18G=)
c.74+18G= (n.74+18G=)
c.245+18G= (n.245+18G=)
c.2360+18G= (n.2360+18G=)
2g.26477632C>ACA531761918OTOFc.2315+17G>T (n.2315+17G>T)
c.74+17G>T (n.74+17G>T)
c.245+17G>T (n.245+17G>T)
c.2360+17G>T (n.2360+17G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.26477632C=CA1239830369OTOFc.2315+17G= (n.2315+17G=)
c.74+17G= (n.74+17G=)
c.245+17G= (n.245+17G=)
c.2360+17G= (n.2360+17G=)
2g.26477632C>TCA1563971OTOFc.2315+17G>A (n.2315+17G>A)
c.74+17G>A (n.74+17G>A)
c.245+17G>A (n.245+17G>A)
c.2360+17G>A (n.2360+17G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477633G>ACA1563972OTOFc.2315+16C>T (n.2315+16C>T)
c.74+16C>T (n.74+16C>T)
c.245+16C>T (n.245+16C>T)
c.2360+16C>T (n.2360+16C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477633G>CCA1028608438OTOFc.2315+16C>G (n.2315+16C>G)
c.74+16C>G (n.74+16C>G)
c.245+16C>G (n.245+16C>G)
c.2360+16C>G (n.2360+16C>G)
 gnomAD v3 gnomAD v4
2g.26477633G=CA1239830371OTOFc.2315+16C= (n.2315+16C=)
c.74+16C= (n.74+16C=)
c.245+16C= (n.245+16C=)
c.2360+16C= (n.2360+16C=)
2g.26477633G>TCA531761919OTOFc.2315+16C>A (n.2315+16C>A)
c.74+16C>A (n.74+16C>A)
c.245+16C>A (n.245+16C>A)
c.2360+16C>A (n.2360+16C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.26477634C>GCA2576699524OTOFc.2315+15G>C (n.2315+15G>C)
c.74+15G>C (n.74+15G>C)
c.245+15G>C (n.245+15G>C)
c.2360+15G>C (n.2360+15G>C)
2g.26477634C>TCA2658238252OTOFc.2315+15G>A (n.2315+15G>A)
c.74+15G>A (n.74+15G>A)
c.245+15G>A (n.245+15G>A)
c.2360+15G>A (n.2360+15G>A)
 gnomAD v4
2g.26477635C>TCA2550145963OTOFc.2315+14G>A (n.2315+14G>A)
c.74+14G>A (n.74+14G>A)
c.245+14G>A (n.245+14G>A)
c.2360+14G>A (n.2360+14G>A)
2g.26477638T>CCA2576699525OTOFc.2315+11A>G (n.2315+11A>G)
c.74+11A>G (n.74+11A>G)
c.245+11A>G (n.245+11A>G)
c.2360+11A>G (n.2360+11A>G)
2g.26477638T>GCA2698921592OTOFc.2315+11A>C (n.2315+11A>C)
c.74+11A>C (n.74+11A>C)
c.245+11A>C (n.245+11A>C)
c.2360+11A>C (n.2360+11A>C)
 dbSNP
2g.26477639C>TCA2658238253OTOFc.2315+10G>A (n.2315+10G>A)
c.74+10G>A (n.74+10G>A)
c.245+10G>A (n.245+10G>A)
c.2360+10G>A (n.2360+10G>A)
 gnomAD v4
2g.26477640C>TCA2658238254OTOFc.2315+9G>A (n.2315+9G>A)
c.74+9G>A (n.74+9G>A)
c.245+9G>A (n.245+9G>A)
c.2360+9G>A (n.2360+9G>A)
 ClinVar gnomAD v4
2g.26477641C>TCA2658238255OTOFc.2315+8G>A (n.2315+8G>A)
c.74+8G>A (n.74+8G>A)
c.245+8G>A (n.245+8G>A)
c.2360+8G>A (n.2360+8G>A)
 gnomAD v4
2g.26477644C=CA1239830373OTOFc.2315+5G= (n.2315+5G=)
c.74+5G= (n.74+5G=)
c.245+5G= (n.245+5G=)
c.2360+5G= (n.2360+5G=)
2g.26477644C>TCA44398644OTOFc.2315+5G>A (n.2315+5G>A)
c.74+5G>A (n.74+5G>A)
c.245+5G>A (n.245+5G>A)
c.2360+5G>A (n.2360+5G>A)
 dbSNP gnomAD v4
2g.26477646C>TCA2594511719OTOFc.2315+3G>A (n.2315+3G>A)
c.74+3G>A (n.74+3G>A)
c.245+3G>A (n.245+3G>A)
c.2360+3G>A (n.2360+3G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.26477647A>CCA346123462OTOFc.2315+2T>G (n.2315+2T>G)
c.74+2T>G (n.74+2T>G)
c.245+2T>G (n.245+2T>G)
c.2360+2T>G (n.2360+2T>G)
2g.26477647A>GCA346123470OTOFc.2315+2T>C (n.2315+2T>C)
c.74+2T>C (n.74+2T>C)
c.245+2T>C (n.245+2T>C)
c.2360+2T>C (n.2360+2T>C)
2g.26477647A>TCA346123471OTOFc.2315+2T>A (n.2315+2T>A)
c.74+2T>A (n.74+2T>A)
c.245+2T>A (n.245+2T>A)
c.2360+2T>A (n.2360+2T>A)
2g.26477648C>ACA44398647OTOFc.2315+1G>T (n.2315+1G>T)
c.74+1G>T (n.74+1G>T)
c.245+1G>T (n.245+1G>T)
c.2360+1G>T (n.2360+1G>T)
 dbSNP
2g.26477648C=CA1239830375OTOFc.2315+1G= (n.2315+1G=)
c.74+1G= (n.74+1G=)
c.245+1G= (n.245+1G=)
c.2360+1G= (n.2360+1G=)
2g.26477648C>GCA346123474OTOFc.2315+1G>C (n.2315+1G>C)
c.74+1G>C (n.74+1G>C)
c.245+1G>C (n.245+1G>C)
c.2360+1G>C (n.2360+1G>C)
2g.26477648C>TCA346123477OTOFc.2315+1G>A (n.2315+1G>A)
c.74+1G>A (n.74+1G>A)
c.245+1G>A (n.245+1G>A)
c.2360+1G>A (n.2360+1G>A)
2g.26477649C>ACA346123485OTOFc.2315G>T (p.Cys772Phe)
c.74G>T (p.Cys25Phe)
c.245G>T (p.Cys82Phe)
c.2360G>T (p.Cys787Phe)
2g.26477649C>GCA346123509OTOFc.2315G>C (p.Cys772Ser)
c.74G>C (p.Cys25Ser)
c.245G>C (p.Cys82Ser)
c.2360G>C (p.Cys787Ser)
2g.26477649C>TCA346123512OTOFc.2315G>A (p.Cys772Tyr)
c.74G>A (p.Cys25Tyr)
c.245G>A (p.Cys82Tyr)
c.2360G>A (p.Cys787Tyr)
2g.26477650A=CA1239830377OTOFc.2314T= (p.Cys772=)
c.73T= (p.Cys25=)
c.244T= (p.Cys82=)
c.2359T= (p.Cys787=)
2g.26477650A>CCA346123517OTOFc.2314T>G (p.Cys772Gly)
c.73T>G (p.Cys25Gly)
c.244T>G (p.Cys82Gly)
c.2359T>G (p.Cys787Gly)
2g.26477650A>GCA1563973OTOFc.2314T>C (p.Cys772Arg)
c.73T>C (p.Cys25Arg)
c.244T>C (p.Cys82Arg)
c.2359T>C (p.Cys787Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477650A>TCA346123522OTOFc.2314T>A (p.Cys772Ser)
c.73T>A (p.Cys25Ser)
c.244T>A (p.Cys82Ser)
c.2359T>A (p.Cys787Ser)
2g.26477651G>ACA425360086OTOFc.2313C>T (p.Cys771=)
c.72C>T (p.Cys24=)
c.243C>T (p.Cys81=)
c.2358C>T (p.Cys786=)
2g.26477651G>CCA346123533OTOFc.2313C>G (p.Cys771Trp)
c.72C>G (p.Cys24Trp)
c.243C>G (p.Cys81Trp)
c.2358C>G (p.Cys786Trp)
2g.26477651G>TCA346123536OTOFc.2313C>A (p.Cys771Ter)
c.72C>A (p.Cys24Ter)
c.243C>A (p.Cys81Ter)
c.2358C>A (p.Cys786Ter)
2g.26477652C>ACA346123546OTOFc.2312G>T (p.Cys771Phe)
c.71G>T (p.Cys24Phe)
c.242G>T (p.Cys81Phe)
c.2357G>T (p.Cys786Phe)
 dbSNP COSMIC COSMIC COSMIC
2g.26477652C=CA1239830379OTOFc.2312G= (p.Cys771=)
c.71G= (p.Cys24=)
c.242G= (p.Cys81=)
c.2357G= (p.Cys786=)
2g.26477652C>GCA346123549OTOFc.2312G>C (p.Cys771Ser)
c.71G>C (p.Cys24Ser)
c.242G>C (p.Cys81Ser)
c.2357G>C (p.Cys786Ser)
2g.26477652C>TCA346123552OTOFc.2312G>A (p.Cys771Tyr)
c.71G>A (p.Cys24Tyr)
c.242G>A (p.Cys81Tyr)
c.2357G>A (p.Cys786Tyr)
2g.26477653A>CCA346123556OTOFc.2311T>G (p.Cys771Gly)
c.70T>G (p.Cys24Gly)
c.241T>G (p.Cys81Gly)
c.2356T>G (p.Cys786Gly)
2g.26477653A>GCA346123557OTOFc.2311T>C (p.Cys771Arg)
c.70T>C (p.Cys24Arg)
c.241T>C (p.Cys81Arg)
c.2356T>C (p.Cys786Arg)
2g.26477653A>TCA346123554OTOFc.2311T>A (p.Cys771Ser)
c.70T>A (p.Cys24Ser)
c.241T>A (p.Cys81Ser)
c.2356T>A (p.Cys786Ser)
2g.26477654G>ACA425360091OTOFc.2310C>T (p.Gly770=)
c.69C>T (p.Gly23=)
c.240C>T (p.Gly80=)
c.2355C>T (p.Gly785=)
 gnomAD v4
2g.26477654G>CCA425360092OTOFc.2310C>G (p.Gly770=)
c.69C>G (p.Gly23=)
c.240C>G (p.Gly80=)
c.2355C>G (p.Gly785=)
 gnomAD v4
2g.26477654G>TCA425360090OTOFc.2310C>A (p.Gly770=)
c.69C>A (p.Gly23=)
c.240C>A (p.Gly80=)
c.2355C>A (p.Gly785=)
 dbSNP
2g.26477655C>ACA346123558OTOFc.2309G>T (p.Gly770Val)
c.68G>T (p.Gly23Val)
c.239G>T (p.Gly80Val)
c.2354G>T (p.Gly785Val)
 gnomAD v4
2g.26477655C=CA1239830381OTOFc.2309G= (p.Gly770=)
c.68G= (p.Gly23=)
c.239G= (p.Gly80=)
c.2354G= (p.Gly785=)
2g.26477655C>GCA346123559OTOFc.2309G>C (p.Gly770Ala)
c.68G>C (p.Gly23Ala)
c.239G>C (p.Gly80Ala)
c.2354G>C (p.Gly785Ala)
 gnomAD v4
2g.26477655C>TCA346123560OTOFc.2309G>A (p.Gly770Asp)
c.68G>A (p.Gly23Asp)
c.239G>A (p.Gly80Asp)
c.2354G>A (p.Gly785Asp)
 dbSNP
2g.26477656C>ACA346123562OTOFc.2308G>T (p.Gly770Cys)
c.67G>T (p.Gly23Cys)
c.238G>T (p.Gly80Cys)
c.2353G>T (p.Gly785Cys)
2g.26477656C>GCA346123563OTOFc.2308G>C (p.Gly770Arg)
c.67G>C (p.Gly23Arg)
c.238G>C (p.Gly80Arg)
c.2353G>C (p.Gly785Arg)
2g.26477656C>TCA346123564OTOFc.2308G>A (p.Gly770Ser)
c.67G>A (p.Gly23Ser)
c.238G>A (p.Gly80Ser)
c.2353G>A (p.Gly785Ser)
2g.26477657A>CCA346123566OTOFc.2307T>G (p.Cys769Trp)
c.66T>G (p.Cys22Trp)
c.237T>G (p.Cys79Trp)
c.2352T>G (p.Cys784Trp)
2g.26477657A>GCA425360093OTOFc.2307T>C (p.Cys769=)
c.66T>C (p.Cys22=)
c.237T>C (p.Cys79=)
c.2352T>C (p.Cys784=)
2g.26477657A>TCA346123567OTOFc.2307T>A (p.Cys769Ter)
c.66T>A (p.Cys22Ter)
c.237T>A (p.Cys79Ter)
c.2352T>A (p.Cys784Ter)
2g.26477658C>ACA346123568OTOFc.2306G>T (p.Cys769Phe)
c.65G>T (p.Cys22Phe)
c.236G>T (p.Cys79Phe)
c.2351G>T (p.Cys784Phe)
2g.26477658C>GCA346123569OTOFc.2306G>C (p.Cys769Ser)
c.65G>C (p.Cys22Ser)
c.236G>C (p.Cys79Ser)
c.2351G>C (p.Cys784Ser)
2g.26477658C>TCA346123570OTOFc.2306G>A (p.Cys769Tyr)
c.65G>A (p.Cys22Tyr)
c.236G>A (p.Cys79Tyr)
c.2351G>A (p.Cys784Tyr)
 gnomAD v4
2g.26477659A>CCA346123573OTOFc.2305T>G (p.Cys769Gly)
c.64T>G (p.Cys22Gly)
c.235T>G (p.Cys79Gly)
c.2350T>G (p.Cys784Gly)
2g.26477659A>GCA346123575OTOFc.2305T>C (p.Cys769Arg)
c.64T>C (p.Cys22Arg)
c.235T>C (p.Cys79Arg)
c.2350T>C (p.Cys784Arg)
2g.26477659A>TCA346123571OTOFc.2305T>A (p.Cys769Ser)
c.64T>A (p.Cys22Ser)
c.235T>A (p.Cys79Ser)
c.2350T>A (p.Cys784Ser)
2g.26477660G>ACA425360098OTOFc.2304C>T (p.Ser768=)
c.63C>T (p.Ser21=)
c.234C>T (p.Ser78=)
c.2349C>T (p.Ser783=)
2g.26477660G>CCA346123577OTOFc.2304C>G (p.Ser768Arg)
c.63C>G (p.Ser21Arg)
c.234C>G (p.Ser78Arg)
c.2349C>G (p.Ser783Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.26477660G=CA1239830383OTOFc.2304C= (p.Ser768=)
c.63C= (p.Ser21=)
c.234C= (p.Ser78=)
c.2349C= (p.Ser783=)
2g.26477660G>TCA346123580OTOFc.2304C>A (p.Ser768Arg)
c.63C>A (p.Ser21Arg)
c.234C>A (p.Ser78Arg)
c.2349C>A (p.Ser783Arg)
2g.26477661C>ACA346123583OTOFc.2303G>T (p.Ser768Ile)
c.62G>T (p.Ser21Ile)
c.233G>T (p.Ser78Ile)
c.2348G>T (p.Ser783Ile)
2g.26477661C=CA1239830384OTOFc.2303G= (p.Ser768=)
c.62G= (p.Ser21=)
c.233G= (p.Ser78=)
c.2348G= (p.Ser783=)
2g.26477661C>GCA346123584OTOFc.2303G>C (p.Ser768Thr)
c.62G>C (p.Ser21Thr)
c.233G>C (p.Ser78Thr)
c.2348G>C (p.Ser783Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.26477661C>TCA346123585OTOFc.2303G>A (p.Ser768Asn)
c.62G>A (p.Ser21Asn)
c.233G>A (p.Ser78Asn)
c.2348G>A (p.Ser783Asn)
2g.26477662T>ACA346123588OTOFc.2302A>T (p.Ser768Cys)
c.61A>T (p.Ser21Cys)
c.232A>T (p.Ser78Cys)
c.2347A>T (p.Ser783Cys)
2g.26477662T>CCA346123586OTOFc.2302A>G (p.Ser768Gly)
c.61A>G (p.Ser21Gly)
c.232A>G (p.Ser78Gly)
c.2347A>G (p.Ser783Gly)
2g.26477662T>GCA346123587OTOFc.2302A>C (p.Ser768Arg)
c.61A>C (p.Ser21Arg)
c.232A>C (p.Ser78Arg)
c.2347A>C (p.Ser783Arg)
2g.26477662_26477664delinsTCACA1239830385OTOFc.2300_2302delinsTGA (p.Leu767=)
c.59_61delinsTGA (p.Leu20=)
c.230_232delinsTGA (p.Leu77=)
c.2345_2347delinsTGA (p.Leu782=)
2g.26477663C>ACA425360100OTOFc.2301G>T (p.Leu767=)
c.60G>T (p.Leu20=)
c.231G>T (p.Leu77=)
c.2346G>T (p.Leu782=)
2g.26477663C>GCA425360101OTOFc.2301G>C (p.Leu767=)
c.60G>C (p.Leu20=)
c.231G>C (p.Leu77=)
c.2346G>C (p.Leu782=)
 COSMIC COSMIC COSMIC
2g.26477663C>TCA425360102OTOFc.2301G>A (p.Leu767=)
c.60G>A (p.Leu20=)
c.231G>A (p.Leu77=)
c.2346G>A (p.Leu782=)
2g.26477663_26477664delCA1563974OTOFc.2300_2301del (p.Leu767GlnfsTer12)
c.59_60del (p.Leu20GlnfsTer12)
c.230_231del (p.Leu77GlnfsTer12)
c.2345_2346del (p.Leu782GlnfsTer12)
 ClinVar dbSNP ExAC
2g.26477664A>CCA346123589OTOFc.2300T>G (p.Leu767Arg)
c.59T>G (p.Leu20Arg)
c.230T>G (p.Leu77Arg)
c.2345T>G (p.Leu782Arg)
2g.26477664A>GCA346123590OTOFc.2300T>C (p.Leu767Pro)
c.59T>C (p.Leu20Pro)
c.230T>C (p.Leu77Pro)
c.2345T>C (p.Leu782Pro)
 gnomAD v4
2g.26477664A>TCA346123592OTOFc.2300T>A (p.Leu767Gln)
c.59T>A (p.Leu20Gln)
c.230T>A (p.Leu77Gln)
c.2345T>A (p.Leu782Gln)
2g.26477665G>ACA425360103OTOFc.2299C>T (p.Leu767=)
c.58C>T (p.Leu20=)
c.229C>T (p.Leu77=)
c.2344C>T (p.Leu782=)
 ClinVar gnomAD v4
2g.26477665G>CCA346123594OTOFc.2299C>G (p.Leu767Val)
c.58C>G (p.Leu20Val)
c.229C>G (p.Leu77Val)
c.2344C>G (p.Leu782Val)
 gnomAD v4
2g.26477665G>TCA346123598OTOFc.2299C>A (p.Leu767Met)
c.58C>A (p.Leu20Met)
c.229C>A (p.Leu77Met)
c.2344C>A (p.Leu782Met)
2g.26477666C>ACA346123601OTOFc.2298G>T (p.Glu766Asp)
c.57G>T (p.Glu19Asp)
c.228G>T (p.Glu76Asp)
c.2343G>T (p.Glu781Asp)
2g.26477666C>GCA346123599OTOFc.2298G>C (p.Glu766Asp)
c.57G>C (p.Glu19Asp)
c.228G>C (p.Glu76Asp)
c.2343G>C (p.Glu781Asp)
2g.26477666C>TCA425360104OTOFc.2298G>A (p.Glu766=)
c.57G>A (p.Glu19=)
c.228G>A (p.Glu76=)
c.2343G>A (p.Glu781=)
2g.26477670_26477672delCA2586968839OTOFc.2296_2298del (p.Glu766del)
c.55_57del (p.Glu19del)
c.226_228del (p.Glu76del)
c.2341_2343del (p.Glu781del)
2g.26477667T>ACA346123602OTOFc.2297A>T (p.Glu766Val)
c.56A>T (p.Glu19Val)
c.227A>T (p.Glu76Val)
c.2342A>T (p.Glu781Val)
2g.26477667T>CCA346123606OTOFc.2297A>G (p.Glu766Gly)
c.56A>G (p.Glu19Gly)
c.227A>G (p.Glu76Gly)
c.2342A>G (p.Glu781Gly)
2g.26477667T>GCA346123603OTOFc.2297A>C (p.Glu766Ala)
c.56A>C (p.Glu19Ala)
c.227A>C (p.Glu76Ala)
c.2342A>C (p.Glu781Ala)
2g.26477668C>ACA346123607OTOFc.2296G>T (p.Glu766Ter)
c.55G>T (p.Glu19Ter)
c.226G>T (p.Glu76Ter)
c.2341G>T (p.Glu781Ter)
 gnomAD v4
2g.26477668C>GCA346123608OTOFc.2296G>C (p.Glu766Gln)
c.55G>C (p.Glu19Gln)
c.226G>C (p.Glu76Gln)
c.2341G>C (p.Glu781Gln)
2g.26477668C>TCA346123612OTOFc.2296G>A (p.Glu766Lys)
c.55G>A (p.Glu19Lys)
c.226G>A (p.Glu76Lys)
c.2341G>A (p.Glu781Lys)
2g.26477669delCA2658238257OTOFc.2296del (p.Glu766SerfsTer2)
c.55del (p.Glu19SerfsTer2)
c.226del (p.Glu76SerfsTer2)
c.2341del (p.Glu781SerfsTer2)
 gnomAD v4
2g.26477669C>ACA346123615OTOFc.2295G>T (p.Glu765Asp)
c.54G>T (p.Glu18Asp)
c.225G>T (p.Glu75Asp)
c.2340G>T (p.Glu780Asp)
2g.26477669C=CA1239830388OTOFc.2295G= (p.Glu765=)
c.54G= (p.Glu18=)
c.225G= (p.Glu75=)
c.2340G= (p.Glu780=)
2g.26477669C>GCA346123619OTOFc.2295G>C (p.Glu765Asp)
c.54G>C (p.Glu18Asp)
c.225G>C (p.Glu75Asp)
c.2340G>C (p.Glu780Asp)
2g.26477669C>TCA1563975OTOFc.2295G>A (p.Glu765=)
c.54G>A (p.Glu18=)
c.225G>A (p.Glu75=)
c.2340G>A (p.Glu780=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477670T>ACA346123620OTOFc.2294A>T (p.Glu765Val)
c.53A>T (p.Glu18Val)
c.224A>T (p.Glu75Val)
c.2339A>T (p.Glu780Val)
2g.26477670T>CCA346123622OTOFc.2294A>G (p.Glu765Gly)
c.53A>G (p.Glu18Gly)
c.224A>G (p.Glu75Gly)
c.2339A>G (p.Glu780Gly)
2g.26477670T>GCA346123623OTOFc.2294A>C (p.Glu765Ala)
c.53A>C (p.Glu18Ala)
c.224A>C (p.Glu75Ala)
c.2339A>C (p.Glu780Ala)
2g.26477671C>ACA346123625OTOFc.2293G>T (p.Glu765Ter)
c.52G>T (p.Glu18Ter)
c.223G>T (p.Glu75Ter)
c.2338G>T (p.Glu780Ter)
2g.26477671C>GCA346123627OTOFc.2293G>C (p.Glu765Gln)
c.52G>C (p.Glu18Gln)
c.223G>C (p.Glu75Gln)
c.2338G>C (p.Glu780Gln)
2g.26477671C>TCA346123629OTOFc.2293G>A (p.Glu765Lys)
c.52G>A (p.Glu18Lys)
c.223G>A (p.Glu75Lys)
c.2338G>A (p.Glu780Lys)
 gnomAD v4
2g.26477672C>ACA425360106OTOFc.2292G>T (p.Leu764=)
c.51G>T (p.Leu17=)
c.222G>T (p.Leu74=)
c.2337G>T (p.Leu779=)
2g.26477672C=CA1239830390OTOFc.2292G= (p.Leu764=)
c.51G= (p.Leu17=)
c.222G= (p.Leu74=)
c.2337G= (p.Leu779=)
2g.26477672C>GCA425360107OTOFc.2292G>C (p.Leu764=)
c.51G>C (p.Leu17=)
c.222G>C (p.Leu74=)
c.2337G>C (p.Leu779=)
2g.26477672C>TCA1563976OTOFc.2292G>A (p.Leu764=)
c.51G>A (p.Leu17=)
c.222G>A (p.Leu74=)
c.2337G>A (p.Leu779=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477673A=CA1239830393OTOFc.2291T= (p.Leu764=)
c.50T= (p.Leu17=)
c.221T= (p.Leu74=)
c.2336T= (p.Leu779=)
2g.26477673A>CCA1563977OTOFc.2291T>G (p.Leu764Arg)
c.50T>G (p.Leu17Arg)
c.221T>G (p.Leu74Arg)
c.2336T>G (p.Leu779Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477673A>GCA346123633OTOFc.2291T>C (p.Leu764Pro)
c.50T>C (p.Leu17Pro)
c.221T>C (p.Leu74Pro)
c.2336T>C (p.Leu779Pro)
2g.26477673A>TCA346123632OTOFc.2291T>A (p.Leu764Gln)
c.50T>A (p.Leu17Gln)
c.221T>A (p.Leu74Gln)
c.2336T>A (p.Leu779Gln)
2g.26477674G>ACA44398675OTOFc.2290C>T (p.Leu764=)
c.49C>T (p.Leu17=)
c.220C>T (p.Leu74=)
c.2335C>T (p.Leu779=)
 dbSNP gnomAD v4
2g.26477674G>CCA346123635OTOFc.2290C>G (p.Leu764Val)
c.49C>G (p.Leu17Val)
c.220C>G (p.Leu74Val)
c.2335C>G (p.Leu779Val)
2g.26477674G=CA1239830395OTOFc.2290C= (p.Leu764=)
c.49C= (p.Leu17=)
c.220C= (p.Leu74=)
c.2335C= (p.Leu779=)
2g.26477674G>TCA346123640OTOFc.2290C>A (p.Leu764Met)
c.49C>A (p.Leu17Met)
c.220C>A (p.Leu74Met)
c.2335C>A (p.Leu779Met)
2g.26477675G>ACA425360109OTOFc.2289C>T (p.Val763=)
c.48C>T (p.Val16=)
c.219C>T (p.Val73=)
c.2334C>T (p.Val778=)
2g.26477675G>CCA425360108OTOFc.2289C>G (p.Val763=)
c.48C>G (p.Val16=)
c.219C>G (p.Val73=)
c.2334C>G (p.Val778=)
2g.26477675G>TCA425360110OTOFc.2289C>A (p.Val763=)
c.48C>A (p.Val16=)
c.219C>A (p.Val73=)
c.2334C>A (p.Val778=)
2g.26477676A=CA1239830397OTOFc.2288T= (p.Val763=)
c.47T= (p.Val16=)
c.218T= (p.Val73=)
c.2333T= (p.Val778=)
2g.26477676A>CCA346123643OTOFc.2288T>G (p.Val763Gly)
c.47T>G (p.Val16Gly)
c.218T>G (p.Val73Gly)
c.2333T>G (p.Val778Gly)
2g.26477676A>GCA44398679OTOFc.2288T>C (p.Val763Ala)
c.47T>C (p.Val16Ala)
c.218T>C (p.Val73Ala)
c.2333T>C (p.Val778Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.26477676A>TCA346123644OTOFc.2288T>A (p.Val763Asp)
c.47T>A (p.Val16Asp)
c.218T>A (p.Val73Asp)
c.2333T>A (p.Val778Asp)
 dbSNP gnomAD v4
2g.26477677delCA2740257660OTOFc.2287del (p.Val763SerfsTer5)
c.46del (p.Val16SerfsTer5)
c.217del (p.Val73SerfsTer5)
c.2332del (p.Val778SerfsTer5)
2g.26477677C>ACA1563979OTOFc.2287G>T (p.Val763Phe)
c.46G>T (p.Val16Phe)
c.217G>T (p.Val73Phe)
c.2332G>T (p.Val778Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477677C=CA1239830399OTOFc.2287G= (p.Val763=)
c.46G= (p.Val16=)
c.217G= (p.Val73=)
c.2332G= (p.Val778=)
2g.26477677C>GCA346123650OTOFc.2287G>C (p.Val763Leu)
c.46G>C (p.Val16Leu)
c.217G>C (p.Val73Leu)
c.2332G>C (p.Val778Leu)
2g.26477677C>TCA1563978OTOFc.2287G>A (p.Val763Ile)
c.46G>A (p.Val16Ile)
c.217G>A (p.Val73Ile)
c.2332G>A (p.Val778Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477678G>ACA1563981OTOFc.2286C>T (p.Gly762=)
c.45C>T (p.Gly15=)
c.216C>T (p.Gly72=)
c.2331C>T (p.Gly777=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477678G>CCA1563980OTOFc.2286C>G (p.Gly762=)
c.45C>G (p.Gly15=)
c.216C>G (p.Gly72=)
c.2331C>G (p.Gly777=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477678G=CA1239830403OTOFc.2286C= (p.Gly762=)
c.45C= (p.Gly15=)
c.216C= (p.Gly72=)
c.2331C= (p.Gly777=)
2g.26477678G>TCA425360111OTOFc.2286C>A (p.Gly762=)
c.45C>A (p.Gly15=)
c.216C>A (p.Gly72=)
c.2331C>A (p.Gly777=)
2g.26477679C>ACA346123672OTOFc.2285G>T (p.Gly762Val)
c.44G>T (p.Gly15Val)
c.215G>T (p.Gly72Val)
c.2330G>T (p.Gly777Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26477679C=CA1239830404OTOFc.2285G= (p.Gly762=)
c.44G= (p.Gly15=)
c.215G= (p.Gly72=)
c.2330G= (p.Gly777=)
2g.26477679C>GCA346123669OTOFc.2285G>C (p.Gly762Ala)
c.44G>C (p.Gly15Ala)
c.215G>C (p.Gly72Ala)
c.2330G>C (p.Gly777Ala)
2g.26477679C>TCA346123666OTOFc.2285G>A (p.Gly762Asp)
c.44G>A (p.Gly15Asp)
c.215G>A (p.Gly72Asp)
c.2330G>A (p.Gly777Asp)
 gnomAD v4
2g.26477680C>ACA346123676OTOFc.2284G>T (p.Gly762Cys)
c.43G>T (p.Gly15Cys)
c.214G>T (p.Gly72Cys)
c.2329G>T (p.Gly777Cys)
 gnomAD v4
2g.26477680C>GCA346123679OTOFc.2284G>C (p.Gly762Arg)
c.43G>C (p.Gly15Arg)
c.214G>C (p.Gly72Arg)
c.2329G>C (p.Gly777Arg)
2g.26477680C>TCA346123684OTOFc.2284G>A (p.Gly762Ser)
c.43G>A (p.Gly15Ser)
c.214G>A (p.Gly72Ser)
c.2329G>A (p.Gly777Ser)
 gnomAD v4
2g.26477681C>ACA425360112OTOFc.2283G>T (p.Arg761=)
c.42G>T (p.Arg14=)
c.213G>T (p.Arg71=)
c.2328G>T (p.Arg776=)
 gnomAD v4
2g.26477681C>GCA425360113OTOFc.2283G>C (p.Arg761=)
c.42G>C (p.Arg14=)
c.213G>C (p.Arg71=)
c.2328G>C (p.Arg776=)
2g.26477681C>TCA425360114OTOFc.2283G>A (p.Arg761=)
c.42G>A (p.Arg14=)
c.213G>A (p.Arg71=)
c.2328G>A (p.Arg776=)
2g.26477682C>ACA346123686OTOFc.2282G>T (p.Arg761Leu)
c.41G>T (p.Arg14Leu)
c.212G>T (p.Arg71Leu)
c.2327G>T (p.Arg776Leu)
2g.26477682C=CA1239830406OTOFc.2282G= (p.Arg761=)
c.41G= (p.Arg14=)
c.212G= (p.Arg71=)
c.2327G= (p.Arg776=)
2g.26477682C>GCA346123687OTOFc.2282G>C (p.Arg761Pro)
c.41G>C (p.Arg14Pro)
c.212G>C (p.Arg71Pro)
c.2327G>C (p.Arg776Pro)
2g.26477682C>TCA1563982OTOFc.2282G>A (p.Arg761Gln)
c.41G>A (p.Arg14Gln)
c.212G>A (p.Arg71Gln)
c.2327G>A (p.Arg776Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477683G>ACA1563983OTOFc.2281C>T (p.Arg761Trp)
c.40C>T (p.Arg14Trp)
c.211C>T (p.Arg71Trp)
c.2326C>T (p.Arg776Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477683G>CCA346123691OTOFc.2281C>G (p.Arg761Gly)
c.40C>G (p.Arg14Gly)
c.211C>G (p.Arg71Gly)
c.2326C>G (p.Arg776Gly)
 COSMIC COSMIC COSMIC
2g.26477683G=CA1239830408OTOFc.2281C= (p.Arg761=)
c.40C= (p.Arg14=)
c.211C= (p.Arg71=)
c.2326C= (p.Arg776=)
2g.26477683G>TCA425360115OTOFc.2281C>A (p.Arg761=)
c.40C>A (p.Arg14=)
c.211C>A (p.Arg71=)
c.2326C>A (p.Arg776=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
2g.26477684C>ACA425360116OTOFc.2280G>T (p.Leu760=)
c.39G>T (p.Leu13=)
c.210G>T (p.Leu70=)
c.2325G>T (p.Leu775=)
2g.26477684C>GCA425360117OTOFc.2280G>C (p.Leu760=)
c.39G>C (p.Leu13=)
c.210G>C (p.Leu70=)
c.2325G>C (p.Leu775=)
2g.26477684C>TCA425360119OTOFc.2280G>A (p.Leu760=)
c.39G>A (p.Leu13=)
c.210G>A (p.Leu70=)
c.2325G>A (p.Leu775=)
2g.26477685A>CCA346123693OTOFc.2279T>G (p.Leu760Arg)
c.38T>G (p.Leu13Arg)
c.209T>G (p.Leu70Arg)
c.2324T>G (p.Leu775Arg)
2g.26477685A>GCA346123694OTOFc.2279T>C (p.Leu760Pro)
c.38T>C (p.Leu13Pro)
c.209T>C (p.Leu70Pro)
c.2324T>C (p.Leu775Pro)
2g.26477685A>TCA346123695OTOFc.2279T>A (p.Leu760Gln)
c.38T>A (p.Leu13Gln)
c.209T>A (p.Leu70Gln)
c.2324T>A (p.Leu775Gln)
2g.26477686G>ACA425360122OTOFc.2278C>T (p.Leu760=)
c.37C>T (p.Leu13=)
c.208C>T (p.Leu70=)
c.2323C>T (p.Leu775=)
2g.26477686G>CCA346123696OTOFc.2278C>G (p.Leu760Val)
c.37C>G (p.Leu13Val)
c.208C>G (p.Leu70Val)
c.2323C>G (p.Leu775Val)
2g.26477686G>TCA346123697OTOFc.2278C>A (p.Leu760Met)
c.37C>A (p.Leu13Met)
c.208C>A (p.Leu70Met)
c.2323C>A (p.Leu775Met)
2g.26477687G>ACA425360123OTOFc.2277C>T (p.Arg759=)
c.36C>T (p.Arg12=)
c.207C>T (p.Arg69=)
c.2322C>T (p.Arg774=)
2g.26477687G>CCA425360124OTOFc.2277C>G (p.Arg759=)
c.36C>G (p.Arg12=)
c.207C>G (p.Arg69=)
c.2322C>G (p.Arg774=)
2g.26477687G=CA1239830410OTOFc.2277C= (p.Arg759=)
c.36C= (p.Arg12=)
c.207C= (p.Arg69=)
c.2322C= (p.Arg774=)
2g.26477687G>TCA425360125OTOFc.2277C>A (p.Arg759=)
c.36C>A (p.Arg12=)
c.207C>A (p.Arg69=)
c.2322C>A (p.Arg774=)
 dbSNP
2g.26477688C>ACA346123703OTOFc.2276G>T (p.Arg759Leu)
c.35G>T (p.Arg12Leu)
c.206G>T (p.Arg69Leu)
c.2321G>T (p.Arg774Leu)
2g.26477688C=CA1239830411OTOFc.2276G= (p.Arg759=)
c.35G= (p.Arg12=)
c.206G= (p.Arg69=)
c.2321G= (p.Arg774=)
2g.26477688C>GCA346123698OTOFc.2276G>C (p.Arg759Pro)
c.35G>C (p.Arg12Pro)
c.206G>C (p.Arg69Pro)
c.2321G>C (p.Arg774Pro)
2g.26477688C>TCA1563984OTOFc.2276G>A (p.Arg759His)
c.35G>A (p.Arg12His)
c.206G>A (p.Arg69His)
c.2321G>A (p.Arg774His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477689G>ACA1563985OTOFc.2275C>T (p.Arg759Cys)
c.34C>T (p.Arg12Cys)
c.205C>T (p.Arg69Cys)
c.2320C>T (p.Arg774Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477689G>CCA346123706OTOFc.2275C>G (p.Arg759Gly)
c.34C>G (p.Arg12Gly)
c.205C>G (p.Arg69Gly)
c.2320C>G (p.Arg774Gly)
2g.26477689G=CA1239830419OTOFc.2275C= (p.Arg759=)
c.34C= (p.Arg12=)
c.205C= (p.Arg69=)
c.2320C= (p.Arg774=)
2g.26477689G>TCA346123708OTOFc.2275C>A (p.Arg759Ser)
c.34C>A (p.Arg12Ser)
c.205C>A (p.Arg69Ser)
c.2320C>A (p.Arg774Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.26477690A=CA1239830420OTOFc.2274T= (p.Arg758=)
c.33T= (p.Arg11=)
c.204T= (p.Arg68=)
c.2319T= (p.Arg773=)
2g.26477690A>CCA425360127OTOFc.2274T>G (p.Arg758=)
c.33T>G (p.Arg11=)
c.204T>G (p.Arg68=)
c.2319T>G (p.Arg773=)
2g.26477690A>GCA1563986OTOFc.2274T>C (p.Arg758=)
c.33T>C (p.Arg11=)
c.204T>C (p.Arg68=)
c.2319T>C (p.Arg773=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477690A>TCA425360126OTOFc.2274T>A (p.Arg758=)
c.33T>A (p.Arg11=)
c.204T>A (p.Arg68=)
c.2319T>A (p.Arg773=)
2g.26477690_26477695delinsTCA2586968840OTOFc.2269_2274delinsA (p.Glu757ThrfsTer21)
c.28_33delinsA (p.Glu10ThrfsTer21)
c.199_204delinsA (p.Glu67ThrfsTer21)
c.2314_2319delinsA (p.Glu772ThrfsTer21)
2g.26477691C>ACA346123713OTOFc.2273G>T (p.Arg758Leu)
c.32G>T (p.Arg11Leu)
c.203G>T (p.Arg68Leu)
c.2318G>T (p.Arg773Leu)
2g.26477691C=CA1239830421OTOFc.2273G= (p.Arg758=)
c.32G= (p.Arg11=)
c.203G= (p.Arg68=)
c.2318G= (p.Arg773=)
2g.26477691C>GCA346123714OTOFc.2273G>C (p.Arg758Pro)
c.32G>C (p.Arg11Pro)
c.203G>C (p.Arg68Pro)
c.2318G>C (p.Arg773Pro)
2g.26477691C>TCA1563987OTOFc.2273G>A (p.Arg758His)
c.32G>A (p.Arg11His)
c.203G>A (p.Arg68His)
c.2318G>A (p.Arg773His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477692G>ACA1563988OTOFc.2272C>T (p.Arg758Cys)
c.31C>T (p.Arg11Cys)
c.202C>T (p.Arg68Cys)
c.2317C>T (p.Arg773Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26477692G>CCA346123717OTOFc.2272C>G (p.Arg758Gly)
c.31C>G (p.Arg11Gly)
c.202C>G (p.Arg68Gly)
c.2317C>G (p.Arg773Gly)
 gnomAD v4
2g.26477692G=CA1239830422OTOFc.2272C= (p.Arg758=)
c.31C= (p.Arg11=)
c.202C= (p.Arg68=)
c.2317C= (p.Arg773=)
2g.26477692G>TCA346123719OTOFc.2272C>A (p.Arg758Ser)
c.31C>A (p.Arg11Ser)
c.202C>A (p.Arg68Ser)
c.2317C>A (p.Arg773Ser)
2g.26477693C>ACA346123720OTOFc.2271G>T (p.Glu757Asp)
c.30G>T (p.Glu10Asp)
c.201G>T (p.Glu67Asp)
c.2316G>T (p.Glu772Asp)
2g.26477693C>GCA346123721OTOFc.2271G>C (p.Glu757Asp)
c.30G>C (p.Glu10Asp)
c.201G>C (p.Glu67Asp)
c.2316G>C (p.Glu772Asp)
 gnomAD v4
2g.26477693C>TCA425360128OTOFc.2271G>A (p.Glu757=)
c.30G>A (p.Glu10=)
c.201G>A (p.Glu67=)
c.2316G>A (p.Glu772=)
2g.26477694T>ACA346123725OTOFc.2270A>T (p.Glu757Val)
c.29A>T (p.Glu10Val)
c.200A>T (p.Glu67Val)
c.2315A>T (p.Glu772Val)
2g.26477694T>CCA346123728OTOFc.2270A>G (p.Glu757Gly)
c.29A>G (p.Glu10Gly)
c.200A>G (p.Glu67Gly)
c.2315A>G (p.Glu772Gly)
 gnomAD v4
2g.26477694T>GCA346123723OTOFc.2270A>C (p.Glu757Ala)
c.29A>C (p.Glu10Ala)
c.200A>C (p.Glu67Ala)
c.2315A>C (p.Glu772Ala)
2g.26477695C>ACA346123732OTOFc.2269G>T (p.Glu757Ter)
c.28G>T (p.Glu10Ter)
c.199G>T (p.Glu67Ter)
c.2314G>T (p.Glu772Ter)
2g.26477695C>GCA346123729OTOFc.2269G>C (p.Glu757Gln)
c.28G>C (p.Glu10Gln)
c.199G>C (p.Glu67Gln)
c.2314G>C (p.Glu772Gln)
2g.26477695C>TCA346123730OTOFc.2269G>A (p.Glu757Lys)
c.28G>A (p.Glu10Lys)
c.199G>A (p.Glu67Lys)
c.2314G>A (p.Glu772Lys)
2g.26477696A>CCA425360131OTOFc.2268T>G (p.Pro756=)
c.27T>G (p.Pro9=)
c.198T>G (p.Pro66=)
c.2313T>G (p.Pro771=)
2g.26477696A>GCA425360132OTOFc.2268T>C (p.Pro756=)
c.27T>C (p.Pro9=)
c.198T>C (p.Pro66=)
c.2313T>C (p.Pro771=)
2g.26477696A>TCA425360133OTOFc.2268T>A (p.Pro756=)
c.27T>A (p.Pro9=)
c.198T>A (p.Pro66=)
c.2313T>A (p.Pro771=)
2g.26477697G>ACA346123733OTOFc.2267C>T (p.Pro756Leu)
c.26C>T (p.Pro9Leu)
c.197C>T (p.Pro66Leu)
c.2312C>T (p.Pro771Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.26477697G>CCA346123735OTOFc.2267C>G (p.Pro756Arg)
c.26C>G (p.Pro9Arg)
c.197C>G (p.Pro66Arg)
c.2312C>G (p.Pro771Arg)
2g.26477697G=CA1239830423OTOFc.2267C= (p.Pro756=)
c.26C= (p.Pro9=)
c.197C= (p.Pro66=)
c.2312C= (p.Pro771=)
2g.26477697G>TCA346123737OTOFc.2267C>A (p.Pro756His)
c.26C>A (p.Pro9His)
c.197C>A (p.Pro66His)
c.2312C>A (p.Pro771His)
 gnomAD v4
2g.26477698G>ACA346123746OTOFc.2266C>T (p.Pro756Ser)
c.25C>T (p.Pro9Ser)
c.196C>T (p.Pro66Ser)
c.2311C>T (p.Pro771Ser)
2g.26477698G>CCA346123745OTOFc.2266C>G (p.Pro756Ala)
c.25C>G (p.Pro9Ala)
c.196C>G (p.Pro66Ala)
c.2311C>G (p.Pro771Ala)
2g.26477698G=CA1239830425OTOFc.2266C= (p.Pro756=)
c.25C= (p.Pro9=)
c.196C= (p.Pro66=)
c.2311C= (p.Pro771=)
2g.26477698G>TCA1563989OTOFc.2266C>A (p.Pro756Thr)
c.25C>A (p.Pro9Thr)
c.196C>A (p.Pro66Thr)
c.2311C>A (p.Pro771Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477699G>ACA1563990OTOFc.2265C>T (p.Tyr755=)
c.24C>T (p.Tyr8=)
c.195C>T (p.Tyr65=)
c.2310C>T (p.Tyr770=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477699G>CCA346123749OTOFc.2265C>G (p.Tyr755Ter)
c.24C>G (p.Tyr8Ter)
c.195C>G (p.Tyr65Ter)
c.2310C>G (p.Tyr770Ter)
2g.26477699G=CA1239830426OTOFc.2265C= (p.Tyr755=)
c.24C= (p.Tyr8=)
c.195C= (p.Tyr65=)
c.2310C= (p.Tyr770=)
2g.26477699G>TCA44398701OTOFc.2265C>A (p.Tyr755Ter)
c.24C>A (p.Tyr8Ter)
c.195C>A (p.Tyr65Ter)
c.2310C>A (p.Tyr770Ter)
 dbSNP
2g.26477700T>ACA1563991OTOFc.2264A>T (p.Tyr755Phe)
c.23A>T (p.Tyr8Phe)
c.194A>T (p.Tyr65Phe)
c.2309A>T (p.Tyr770Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477700T>CCA346123752OTOFc.2264A>G (p.Tyr755Cys)
c.23A>G (p.Tyr8Cys)
c.194A>G (p.Tyr65Cys)
c.2309A>G (p.Tyr770Cys)
2g.26477700T>GCA346123756OTOFc.2264A>C (p.Tyr755Ser)
c.23A>C (p.Tyr8Ser)
c.194A>C (p.Tyr65Ser)
c.2309A>C (p.Tyr770Ser)
 dbSNP
2g.26477700T=CA1239830428OTOFc.2264A= (p.Tyr755=)
c.23A= (p.Tyr8=)
c.194A= (p.Tyr65=)
c.2309A= (p.Tyr770=)
2g.26477701A>CCA346123766OTOFc.2263T>G (p.Tyr755Asp)
c.22T>G (p.Tyr8Asp)
c.193T>G (p.Tyr65Asp)
c.2308T>G (p.Tyr770Asp)
2g.26477701A>GCA346123761OTOFc.2263T>C (p.Tyr755His)
c.22T>C (p.Tyr8His)
c.193T>C (p.Tyr65His)
c.2308T>C (p.Tyr770His)
2g.26477701A>TCA346123764OTOFc.2263T>A (p.Tyr755Asn)
c.22T>A (p.Tyr8Asn)
c.193T>A (p.Tyr65Asn)
c.2308T>A (p.Tyr770Asn)
2g.26477702G>ACA1563992OTOFc.2262C>T (p.Ser754=)
c.21C>T (p.Ser7=)
c.192C>T (p.Ser64=)
c.2307C>T (p.Ser769=)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.26477702G>CCA425360155OTOFc.2262C>G (p.Ser754=)
c.21C>G (p.Ser7=)
c.192C>G (p.Ser64=)
c.2307C>G (p.Ser769=)
2g.26477702G=CA1239830430OTOFc.2262C= (p.Ser754=)
c.21C= (p.Ser7=)
c.192C= (p.Ser64=)
c.2307C= (p.Ser769=)
2g.26477702G>TCA425360156OTOFc.2262C>A (p.Ser754=)
c.21C>A (p.Ser7=)
c.192C>A (p.Ser64=)
c.2307C>A (p.Ser769=)
2g.26477703G>ACA346123770OTOFc.2261C>T (p.Ser754Phe)
c.20C>T (p.Ser7Phe)
c.191C>T (p.Ser64Phe)
c.2306C>T (p.Ser769Phe)
2g.26477703G>CCA346123771OTOFc.2261C>G (p.Ser754Cys)
c.20C>G (p.Ser7Cys)
c.191C>G (p.Ser64Cys)
c.2306C>G (p.Ser769Cys)
2g.26477703G>TCA346123772OTOFc.2261C>A (p.Ser754Tyr)
c.20C>A (p.Ser7Tyr)
c.191C>A (p.Ser64Tyr)
c.2306C>A (p.Ser769Tyr)
2g.26477704A>CCA346123774OTOFc.2260T>G (p.Ser754Ala)
c.19T>G (p.Ser7Ala)
c.190T>G (p.Ser64Ala)
c.2305T>G (p.Ser769Ala)
2g.26477704A>GCA346123776OTOFc.2260T>C (p.Ser754Pro)
c.19T>C (p.Ser7Pro)
c.190T>C (p.Ser64Pro)
c.2305T>C (p.Ser769Pro)
2g.26477704A>TCA346123778OTOFc.2260T>A (p.Ser754Thr)
c.19T>A (p.Ser7Thr)
c.190T>A (p.Ser64Thr)
c.2305T>A (p.Ser769Thr)
2g.26477705C>ACA346123780OTOFc.2259G>T (p.Lys753Asn)
c.18G>T (p.Lys6Asn)
c.189G>T (p.Lys63Asn)
c.2304G>T (p.Lys768Asn)
2g.26477705C>GCA346123788OTOFc.2259G>C (p.Lys753Asn)
c.18G>C (p.Lys6Asn)
c.189G>C (p.Lys63Asn)
c.2304G>C (p.Lys768Asn)
2g.26477705C>TCA425360157OTOFc.2259G>A (p.Lys753=)
c.18G>A (p.Lys6=)
c.189G>A (p.Lys63=)
c.2304G>A (p.Lys768=)
 gnomAD v4
2g.26477706T>ACA346123792OTOFc.2258A>T (p.Lys753Met)
c.17A>T (p.Lys6Met)
c.188A>T (p.Lys63Met)
c.2303A>T (p.Lys768Met)
2g.26477706T>CCA346123797OTOFc.2258A>G (p.Lys753Arg)
c.17A>G (p.Lys6Arg)
c.188A>G (p.Lys63Arg)
c.2303A>G (p.Lys768Arg)
2g.26477706T>GCA346123814OTOFc.2258A>C (p.Lys753Thr)
c.17A>C (p.Lys6Thr)
c.188A>C (p.Lys63Thr)
c.2303A>C (p.Lys768Thr)
2g.26477707T>ACA346123820OTOFc.2257A>T (p.Lys753Ter)
c.16A>T (p.Lys6Ter)
c.187A>T (p.Lys63Ter)
c.2302A>T (p.Lys768Ter)
2g.26477707T>CCA346123825OTOFc.2257A>G (p.Lys753Glu)
c.16A>G (p.Lys6Glu)
c.187A>G (p.Lys63Glu)
c.2302A>G (p.Lys768Glu)
 gnomAD v4
2g.26477707T>GCA346123823OTOFc.2257A>C (p.Lys753Gln)
c.16A>C (p.Lys6Gln)
c.187A>C (p.Lys63Gln)
c.2302A>C (p.Lys768Gln)
2g.26477708C>ACA346123831OTOFc.2256G>T (p.Glu752Asp)
c.15G>T (p.Glu5Asp)
c.186G>T (p.Glu62Asp)
c.2301G>T (p.Glu767Asp)
2g.26477708C>GCA346123836OTOFc.2256G>C (p.Glu752Asp)
c.15G>C (p.Glu5Asp)
c.186G>C (p.Glu62Asp)
c.2301G>C (p.Glu767Asp)
2g.26477708C>TCA425360158OTOFc.2256G>A (p.Glu752=)
c.15G>A (p.Glu5=)
c.186G>A (p.Glu62=)
c.2301G>A (p.Glu767=)
 ClinVar
2g.26477709T>ACA346123840OTOFc.2255A>T (p.Glu752Val)
c.14A>T (p.Glu5Val)
c.185A>T (p.Glu62Val)
c.2300A>T (p.Glu767Val)
2g.26477709T>CCA1563993OTOFc.2255A>G (p.Glu752Gly)
c.14A>G (p.Glu5Gly)
c.185A>G (p.Glu62Gly)
c.2300A>G (p.Glu767Gly)
 dbSNP ExAC
2g.26477709T>GCA346123845OTOFc.2255A>C (p.Glu752Ala)
c.14A>C (p.Glu5Ala)
c.185A>C (p.Glu62Ala)
c.2300A>C (p.Glu767Ala)
2g.26477709T=CA1239830432OTOFc.2255A= (p.Glu752=)
c.14A= (p.Glu5=)
c.185A= (p.Glu62=)
c.2300A= (p.Glu767=)
2g.26477710C>ACA346123848OTOFc.2254G>T (p.Glu752Ter)
c.13G>T (p.Glu5Ter)
c.184G>T (p.Glu62Ter)
c.2299G>T (p.Glu767Ter)
2g.26477710C>GCA346123849OTOFc.2254G>C (p.Glu752Gln)
c.13G>C (p.Glu5Gln)
c.184G>C (p.Glu62Gln)
c.2299G>C (p.Glu767Gln)
2g.26477710C>TCA346123851OTOFc.2254G>A (p.Glu752Lys)
c.13G>A (p.Glu5Lys)
c.184G>A (p.Glu62Lys)
c.2299G>A (p.Glu767Lys)
 COSMIC COSMIC COSMIC
2g.26477711C>ACA425360160OTOFc.2253G>T (p.Thr751=)
c.12G>T (p.Thr4=)
c.183G>T (p.Thr61=)
c.2298G>T (p.Thr766=)
 dbSNP gnomAD v3 gnomAD v4
2g.26477711C=CA1239830435OTOFc.2253G= (p.Thr751=)
c.12G= (p.Thr4=)
c.183G= (p.Thr61=)
c.2298G= (p.Thr766=)
2g.26477711C>GCA425360159OTOFc.2253G>C (p.Thr751=)
c.12G>C (p.Thr4=)
c.183G>C (p.Thr61=)
c.2298G>C (p.Thr766=)
 ClinVar
2g.26477711C>TCA1563994OTOFc.2253G>A (p.Thr751=)
c.12G>A (p.Thr4=)
c.183G>A (p.Thr61=)
c.2298G>A (p.Thr766=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477712G>ACA177555OTOFc.2252C>T (p.Thr751Met)
c.11C>T (p.Thr4Met)
c.182C>T (p.Thr61Met)
c.2297C>T (p.Thr766Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26477712G>CCA346123889OTOFc.2252C>G (p.Thr751Arg)
c.11C>G (p.Thr4Arg)
c.182C>G (p.Thr61Arg)
c.2297C>G (p.Thr766Arg)
2g.26477712G=CA1239830438OTOFc.2252C= (p.Thr751=)
c.11C= (p.Thr4=)
c.182C= (p.Thr61=)
c.2297C= (p.Thr766=)
2g.26477712G>TCA346123906OTOFc.2252C>A (p.Thr751Lys)
c.11C>A (p.Thr4Lys)
c.182C>A (p.Thr61Lys)
c.2297C>A (p.Thr766Lys)
 gnomAD v4
2g.26477713T>ACA346123917OTOFc.2251A>T (p.Thr751Ser)
c.10A>T (p.Thr4Ser)
c.181A>T (p.Thr61Ser)
c.2296A>T (p.Thr766Ser)
2g.26477713T>CCA346123913OTOFc.2251A>G (p.Thr751Ala)
c.10A>G (p.Thr4Ala)
c.181A>G (p.Thr61Ala)
c.2296A>G (p.Thr766Ala)
2g.26477713T>GCA346123915OTOFc.2251A>C (p.Thr751Pro)
c.10A>C (p.Thr4Pro)
c.181A>C (p.Thr61Pro)
c.2296A>C (p.Thr766Pro)
2g.26477716delCA2658238258OTOFc.2251del (p.Thr751ArgfsTer17)
c.10del (p.Thr4ArgfsTer17)
c.181del (p.Thr61ArgfsTer17)
c.2296del (p.Thr766ArgfsTer17)
 gnomAD v4
2g.26477714T>ACA346123921OTOFc.2250A>T (p.Lys750Asn)
c.9A>T (p.Lys3Asn)
c.180A>T (p.Lys60Asn)
c.2295A>T (p.Lys765Asn)
2g.26477714T>CCA425360161OTOFc.2250A>G (p.Lys750=)
c.9A>G (p.Lys3=)
c.180A>G (p.Lys60=)
c.2295A>G (p.Lys765=)
2g.26477714T>GCA346123922OTOFc.2250A>C (p.Lys750Asn)
c.9A>C (p.Lys3Asn)
c.180A>C (p.Lys60Asn)
c.2295A>C (p.Lys765Asn)
2g.26477715T>ACA346123927OTOFc.2249A>T (p.Lys750Ile)
c.8A>T (p.Lys3Ile)
c.179A>T (p.Lys60Ile)
c.2294A>T (p.Lys765Ile)
2g.26477715T>CCA346123932OTOFc.2249A>G (p.Lys750Arg)
c.8A>G (p.Lys3Arg)
c.179A>G (p.Lys60Arg)
c.2294A>G (p.Lys765Arg)
2g.26477715T>GCA346123935OTOFc.2249A>C (p.Lys750Thr)
c.8A>C (p.Lys3Thr)
c.179A>C (p.Lys60Thr)
c.2294A>C (p.Lys765Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.26477715T=CA1239830440OTOFc.2249A= (p.Lys750=)
c.8A= (p.Lys3=)
c.179A= (p.Lys60=)
c.2294A= (p.Lys765=)
2g.26477716T>ACA346123940OTOFc.2248A>T (p.Lys750Ter)
c.7A>T (p.Lys3Ter)
c.178A>T (p.Lys60Ter)
c.2293A>T (p.Lys765Ter)
2g.26477716T>CCA177558OTOFc.2248A>G (p.Lys750Glu)
c.7A>G (p.Lys3Glu)
c.178A>G (p.Lys60Glu)
c.2293A>G (p.Lys765Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477716T>GCA346123945OTOFc.2248A>C (p.Lys750Gln)
c.7A>C (p.Lys3Gln)
c.178A>C (p.Lys60Gln)
c.2293A>C (p.Lys765Gln)
2g.26477716T=CA1239830442OTOFc.2248A= (p.Lys750=)
c.7A= (p.Lys3=)
c.178A= (p.Lys60=)
c.2293A= (p.Lys765=)
2g.26477717G>ACA425360164OTOFc.2247C>T (p.Ile749=)
c.6C>T (p.Ile2=)
c.177C>T (p.Ile59=)
c.2292C>T (p.Ile764=)
2g.26477717G>CCA346123948OTOFc.2247C>G (p.Ile749Met)
c.6C>G (p.Ile2Met)
c.177C>G (p.Ile59Met)
c.2292C>G (p.Ile764Met)
2g.26477717G>TCA425360163OTOFc.2247C>A (p.Ile749=)
c.6C>A (p.Ile2=)
c.177C>A (p.Ile59=)
c.2292C>A (p.Ile764=)
2g.26477718A=CA1239830445OTOFc.2246T= (p.Ile749=)
c.5T= (p.Ile2=)
c.176T= (p.Ile59=)
c.2291T= (p.Ile764=)
2g.26477718A>CCA346123957OTOFc.2246T>G (p.Ile749Ser)
c.5T>G (p.Ile2Ser)
c.176T>G (p.Ile59Ser)
c.2291T>G (p.Ile764Ser)
2g.26477718A>GCA346123960OTOFc.2246T>C (p.Ile749Thr)
c.5T>C (p.Ile2Thr)
c.176T>C (p.Ile59Thr)
c.2291T>C (p.Ile764Thr)
2g.26477718A>TCA1563995OTOFc.2246T>A (p.Ile749Asn)
c.5T>A (p.Ile2Asn)
c.176T>A (p.Ile59Asn)
c.2291T>A (p.Ile764Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477719T>ACA1563996OTOFc.2245A>T (p.Ile749Phe)
c.4A>T (p.Ile2Phe)
c.175A>T (p.Ile59Phe)
c.2290A>T (p.Ile764Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477719T>CCA346123966OTOFc.2245A>G (p.Ile749Val)
c.4A>G (p.Ile2Val)
c.175A>G (p.Ile59Val)
c.2290A>G (p.Ile764Val)
 dbSNP gnomAD v2 gnomAD v4
2g.26477719T>GCA346123963OTOFc.2245A>C (p.Ile749Leu)
c.4A>C (p.Ile2Leu)
c.175A>C (p.Ile59Leu)
c.2290A>C (p.Ile764Leu)
2g.26477719T=CA1239830449OTOFc.2245A= (p.Ile749=)
c.4A= (p.Ile2=)
c.175A= (p.Ile59=)
c.2290A= (p.Ile764=)
2g.26477720C>ACA346123980OTOFc.2244G>T (p.Met748Ile)
c.3G>T (p.Met1Ile)
c.174G>T (p.Met58Ile)
c.2289G>T (p.Met763Ile)
2g.26477720C=CA1239830450OTOFc.2244G= (p.Met748=)
c.3G= (p.Met1=)
c.174G= (p.Met58=)
c.2289G= (p.Met763=)
2g.26477720C>GCA346123971OTOFc.2244G>C (p.Met748Ile)
c.3G>C (p.Met1Ile)
c.174G>C (p.Met58Ile)
c.2289G>C (p.Met763Ile)
2g.26477720C>TCA346123979OTOFc.2244G>A (p.Met748Ile)
c.3G>A (p.Met1Ile)
c.174G>A (p.Met58Ile)
c.2289G>A (p.Met763Ile)
 dbSNP gnomAD v4
2g.26477721A=CA1239830452OTOFc.2243T= (p.Met748=)
c.2T= (p.Met1=)
c.173T= (p.Met58=)
c.2288T= (p.Met763=)
2g.26477721A>CCA346123981OTOFc.2243T>G (p.Met748Arg)
c.2T>G (p.Met1Arg)
c.173T>G (p.Met58Arg)
c.2288T>G (p.Met763Arg)
2g.26477721A>GCA1563997OTOFc.2243T>C (p.Met748Thr)
c.2T>C (p.Met1Thr)
c.173T>C (p.Met58Thr)
c.2288T>C (p.Met763Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477721A>TCA346123982OTOFc.2243T>A (p.Met748Lys)
c.2T>A (p.Met1Lys)
c.173T>A (p.Met58Lys)
c.2288T>A (p.Met763Lys)
2g.26477722T>ACA346123989OTOFc.2242A>T (p.Met748Leu)
c.1A>T (p.Met1Leu)
c.172A>T (p.Met58Leu)
c.2287A>T (p.Met763Leu)
2g.26477722T>CCA346123998OTOFc.2242A>G (p.Met748Val)
c.1A>G (p.Met1Val)
c.172A>G (p.Met58Val)
c.2287A>G (p.Met763Val)
 gnomAD v4
2g.26477722T>GCA346124003OTOFc.2242A>C (p.Met748Leu)
c.1A>C (p.Met1Leu)
c.172A>C (p.Met58Leu)
c.2287A>C (p.Met763Leu)
2g.26477723C>ACA346124005OTOFc.2241G>T (p.Glu747Asp)
c.-1G>T (n.-1G>T)
c.171G>T (p.Glu57Asp)
c.2286G>T (p.Glu762Asp)
2g.26477723C>GCA346124007OTOFc.2241G>C (p.Glu747Asp)
c.-1G>C (n.-1G>C)
c.171G>C (p.Glu57Asp)
c.2286G>C (p.Glu762Asp)
2g.26477723C>TCA425360165OTOFc.2241G>A (p.Glu747=)
c.-1G>A (n.-1G>A)
c.171G>A (p.Glu57=)
c.2286G>A (p.Glu762=)
 gnomAD v4
2g.26477724T>ACA346124008OTOFc.2240A>T (p.Glu747Val)
c.-2A>T (n.-2A>T)
c.170A>T (p.Glu57Val)
c.2285A>T (p.Glu762Val)
2g.26477724T>CCA346124011OTOFc.2240A>G (p.Glu747Gly)
c.-2A>G (n.-2A>G)
c.170A>G (p.Glu57Gly)
c.2285A>G (p.Glu762Gly)
2g.26477724T>GCA346124013OTOFc.2240A>C (p.Glu747Ala)
c.-2A>C (n.-2A>C)
c.170A>C (p.Glu57Ala)
c.2285A>C (p.Glu762Ala)
2g.26477725C>ACA345101OTOFc.2239G>T (p.Glu747Ter)
c.-3G>T (n.-3G>T)
c.169G>T (p.Glu57Ter)
c.2284G>T (p.Glu762Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26477725C=CA1239830456OTOFc.2239G= (p.Glu747=)
c.-3G= (n.-3G=)
c.169G= (p.Glu57=)
c.2284G= (p.Glu762=)
2g.26477725C>GCA346124017OTOFc.2239G>C (p.Glu747Gln)
c.-3G>C (n.-3G>C)
c.169G>C (p.Glu57Gln)
c.2284G>C (p.Glu762Gln)
2g.26477725C>TCA346124019OTOFc.2239G>A (p.Glu747Lys)
c.-3G>A (n.-3G>A)
c.169G>A (p.Glu57Lys)
c.2284G>A (p.Glu762Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.26477726C>ACA346124028OTOFc.2238G>T (p.Gln746His)
c.-4G>T (n.-4G>T)
c.168G>T (p.Gln56His)
c.2283G>T (p.Gln761His)
2g.26477726C>GCA346124031OTOFc.2238G>C (p.Gln746His)
c.-4G>C (n.-4G>C)
c.168G>C (p.Gln56His)
c.2283G>C (p.Gln761His)
2g.26477726C>TCA425360166OTOFc.2238G>A (p.Gln746=)
c.-4G>A (n.-4G>A)
c.168G>A (p.Gln56=)
c.2283G>A (p.Gln761=)
 gnomAD v4
2g.26477727T>ACA346124033OTOFc.2237A>T (p.Gln746Leu)
c.-5A>T (n.-5A>T)
c.167A>T (p.Gln56Leu)
c.2282A>T (p.Gln761Leu)
2g.26477727T>CCA346124048OTOFc.2237A>G (p.Gln746Arg)
c.-5A>G (n.-5A>G)
c.167A>G (p.Gln56Arg)
c.2282A>G (p.Gln761Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.26477727T>GCA346124051OTOFc.2237A>C (p.Gln746Pro)
c.-5A>C (n.-5A>C)
c.167A>C (p.Gln56Pro)
c.2282A>C (p.Gln761Pro)
2g.26477727T=CA1239830457OTOFc.2237A= (p.Gln746=)
c.-5A= (n.-5A=)
c.167A= (p.Gln56=)
c.2282A= (p.Gln761=)
2g.26477728G>ACA1563998OTOFc.2236C>T (p.Gln746Ter)
c.-6C>T (n.-6C>T)
c.166C>T (p.Gln56Ter)
c.2281C>T (p.Gln761Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477728G>CCA346124055OTOFc.2236C>G (p.Gln746Glu)
c.-6C>G (n.-6C>G)
c.166C>G (p.Gln56Glu)
c.2281C>G (p.Gln761Glu)
2g.26477728G=CA1239830459OTOFc.2236C= (p.Gln746=)
c.-6C= (n.-6C=)
c.166C= (p.Gln56=)
c.2281C= (p.Gln761=)
2g.26477728G>TCA346124057OTOFc.2236C>A (p.Gln746Lys)
c.-6C>A (n.-6C>A)
c.166C>A (p.Gln56Lys)
c.2281C>A (p.Gln761Lys)
 gnomAD v4
2g.26477729T>ACA425360167OTOFc.2235A>T (p.Ile745=)
c.-7A>T (n.-7A>T)
c.165A>T (p.Ile55=)
c.2280A>T (p.Ile760=)
 COSMIC COSMIC
2g.26477729T>CCA346124060OTOFc.2235A>G (p.Ile745Met)
c.-7A>G (n.-7A>G)
c.165A>G (p.Ile55Met)
c.2280A>G (p.Ile760Met)
 gnomAD v4
2g.26477729T>GCA425360168OTOFc.2235A>C (p.Ile745=)
c.-7A>C (n.-7A>C)
c.165A>C (p.Ile55=)
c.2280A>C (p.Ile760=)
2g.26477730A=CA1239830460OTOFc.2234T= (p.Ile745=)
c.-8T= (n.-8T=)
c.164T= (p.Ile55=)
c.2279T= (p.Ile760=)
2g.26477730A>CCA346124064OTOFc.2234T>G (p.Ile745Arg)
c.-8T>G (n.-8T>G)
c.164T>G (p.Ile55Arg)
c.2279T>G (p.Ile760Arg)
2g.26477730A>GCA1563999OTOFc.2234T>C (p.Ile745Thr)
c.-8T>C (n.-8T>C)
c.164T>C (p.Ile55Thr)
c.2279T>C (p.Ile760Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477730A>TCA346124069OTOFc.2234T>A (p.Ile745Lys)
c.-8T>A (n.-8T>A)
c.164T>A (p.Ile55Lys)
c.2279T>A (p.Ile760Lys)

Number of alleles fetched