Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53247034A>CCA413155701IQSEC2c.2843T>G (p.Met948Arg)
c.636T>G
c.145T>G
c.2684T>G (p.Met895Arg)
n.435T>G
c.2654T>G (p.Met885Arg)
c.2069T>G (p.Met690Arg)
c.2780T>G (p.Met927Arg)
c.2006T>G (p.Met669Arg)
c.1973T>G (p.Met658Arg)
n.3007T>G
c.2186T>G (p.Met729Arg)
n.3001T>G
Xg.53247034A>GCA413155702IQSEC2c.2843T>C (p.Met948Thr)
c.636T>C
c.145T>C
c.2684T>C (p.Met895Thr)
n.435T>C
c.2654T>C (p.Met885Thr)
c.2069T>C (p.Met690Thr)
c.2780T>C (p.Met927Thr)
c.2006T>C (p.Met669Thr)
c.1973T>C (p.Met658Thr)
n.3007T>C
c.2186T>C (p.Met729Thr)
n.3001T>C
 ClinVar dbSNP gnomAD v4
Xg.53247034A>TCA413155705IQSEC2c.2843T>A (p.Met948Lys)
c.636T>A
c.145T>A
c.2684T>A (p.Met895Lys)
n.435T>A
c.2654T>A (p.Met885Lys)
c.2069T>A (p.Met690Lys)
c.2780T>A (p.Met927Lys)
c.2006T>A (p.Met669Lys)
c.1973T>A (p.Met658Lys)
n.3007T>A
c.2186T>A (p.Met729Lys)
n.3001T>A
Xg.53247034dupCA2580101171IQSEC2c.2843dup (p.Met948IlefsTer9)
c.636dup
c.145dup
c.2684dup (p.Met895IlefsTer9)
n.435dup
c.2654dup (p.Met885IlefsTer9)
c.2069dup (p.Met690IlefsTer9)
c.2780dup (p.Met927IlefsTer9)
c.2006dup (p.Met669IlefsTer9)
c.1973dup (p.Met658IlefsTer9)
n.3007dup
c.2186dup (p.Met729IlefsTer9)
n.3001dup
 ClinVar
Xg.53247035T>ACA413155718IQSEC2c.2842A>T (p.Met948Leu)
c.635A>T
c.144A>T
c.2683A>T (p.Met895Leu)
n.434A>T
c.2653A>T (p.Met885Leu)
c.2068A>T (p.Met690Leu)
c.2779A>T (p.Met927Leu)
c.2005A>T (p.Met669Leu)
c.1972A>T (p.Met658Leu)
n.3006A>T
c.2185A>T (p.Met729Leu)
n.3000A>T
Xg.53247035T>CCA413155721IQSEC2c.2842A>G (p.Met948Val)
c.635A>G
c.144A>G
c.2683A>G (p.Met895Val)
n.434A>G
c.2653A>G (p.Met885Val)
c.2068A>G (p.Met690Val)
c.2779A>G (p.Met927Val)
c.2005A>G (p.Met669Val)
c.1972A>G (p.Met658Val)
n.3006A>G
c.2185A>G (p.Met729Val)
n.3000A>G
Xg.53247035T>GCA413155711IQSEC2c.2842A>C (p.Met948Leu)
c.635A>C
c.144A>C
c.2683A>C (p.Met895Leu)
n.434A>C
c.2653A>C (p.Met885Leu)
c.2068A>C (p.Met690Leu)
c.2779A>C (p.Met927Leu)
c.2005A>C (p.Met669Leu)
c.1972A>C (p.Met658Leu)
n.3006A>C
c.2185A>C (p.Met729Leu)
n.3000A>C
Xg.53247036delCA2695234296IQSEC2c.2841del (p.Asp947GlufsTer13)
c.634del
c.143del
c.2682del (p.Asp894GlufsTer13)
n.433del
c.2652del (p.Asp884GlufsTer13)
c.2067del (p.Asp689GlufsTer13)
c.2778del (p.Asp926GlufsTer13)
c.2004del (p.Asp668GlufsTer13)
c.1971del (p.Asp657GlufsTer13)
n.3005del
c.2184del (p.Asp728GlufsTer13)
n.2999del
Xg.53247036G>ACA516427229IQSEC2c.2841C>T (p.Asp947=)
c.634C>T
c.143C>T
c.2682C>T (p.Asp894=)
n.433C>T
c.2652C>T (p.Asp884=)
c.2067C>T (p.Asp689=)
c.2778C>T (p.Asp926=)
c.2004C>T (p.Asp668=)
c.1971C>T (p.Asp657=)
n.3005C>T
c.2184C>T (p.Asp728=)
n.2999C>T
Xg.53247036G>CCA413155741IQSEC2c.2841C>G (p.Asp947Glu)
c.634C>G
c.143C>G
c.2682C>G (p.Asp894Glu)
n.433C>G
c.2652C>G (p.Asp884Glu)
c.2067C>G (p.Asp689Glu)
c.2778C>G (p.Asp926Glu)
c.2004C>G (p.Asp668Glu)
c.1971C>G (p.Asp657Glu)
n.3005C>G
c.2184C>G (p.Asp728Glu)
n.2999C>G
Xg.53247036G>TCA413155729IQSEC2c.2841C>A (p.Asp947Glu)
c.634C>A
c.143C>A
c.2682C>A (p.Asp894Glu)
n.433C>A
c.2652C>A (p.Asp884Glu)
c.2067C>A (p.Asp689Glu)
c.2778C>A (p.Asp926Glu)
c.2004C>A (p.Asp668Glu)
c.1971C>A (p.Asp657Glu)
n.3005C>A
c.2184C>A (p.Asp728Glu)
n.2999C>A
Xg.53247037T>ACA413155745IQSEC2c.2840A>T (p.Asp947Val)
c.633A>T
c.142A>T
c.2681A>T (p.Asp894Val)
n.432A>T
c.2651A>T (p.Asp884Val)
c.2066A>T (p.Asp689Val)
c.2777A>T (p.Asp926Val)
c.2003A>T (p.Asp668Val)
c.1970A>T (p.Asp657Val)
n.3004A>T
c.2183A>T (p.Asp728Val)
n.2998A>T
Xg.53247037T>CCA413155749IQSEC2c.2840A>G (p.Asp947Gly)
c.633A>G
c.142A>G
c.2681A>G (p.Asp894Gly)
n.432A>G
c.2651A>G (p.Asp884Gly)
c.2066A>G (p.Asp689Gly)
c.2777A>G (p.Asp926Gly)
c.2003A>G (p.Asp668Gly)
c.1970A>G (p.Asp657Gly)
n.3004A>G
c.2183A>G (p.Asp728Gly)
n.2998A>G
Xg.53247037T>GCA413155753IQSEC2c.2840A>C (p.Asp947Ala)
c.633A>C
c.142A>C
c.2681A>C (p.Asp894Ala)
n.432A>C
c.2651A>C (p.Asp884Ala)
c.2066A>C (p.Asp689Ala)
c.2777A>C (p.Asp926Ala)
c.2003A>C (p.Asp668Ala)
c.1970A>C (p.Asp657Ala)
n.3004A>C
c.2183A>C (p.Asp728Ala)
n.2998A>C
Xg.53247038C>ACA413155756IQSEC2c.2839G>T (p.Asp947Tyr)
c.632G>T
c.141G>T
c.2680G>T (p.Asp894Tyr)
n.431G>T
c.2650G>T (p.Asp884Tyr)
c.2065G>T (p.Asp689Tyr)
c.2776G>T (p.Asp926Tyr)
c.2002G>T (p.Asp668Tyr)
c.1969G>T (p.Asp657Tyr)
n.3003G>T
c.2182G>T (p.Asp728Tyr)
n.2997G>T
Xg.53247038C=CA2429774599IQSEC2c.2839G= (p.Asp947=)
c.632G=
c.141G=
c.2680G= (p.Asp894=)
n.431G=
c.2650G= (p.Asp884=)
c.2065G= (p.Asp689=)
c.2776G= (p.Asp926=)
c.2002G= (p.Asp668=)
c.1969G= (p.Asp657=)
n.3003G=
c.2182G= (p.Asp728=)
n.2997G=
Xg.53247038C>GCA413155758IQSEC2c.2839G>C (p.Asp947His)
c.632G>C
c.141G>C
c.2680G>C (p.Asp894His)
n.431G>C
c.2650G>C (p.Asp884His)
c.2065G>C (p.Asp689His)
c.2776G>C (p.Asp926His)
c.2002G>C (p.Asp668His)
c.1969G>C (p.Asp657His)
n.3003G>C
c.2182G>C (p.Asp728His)
n.2997G>C
Xg.53247038C>TCA413155760IQSEC2c.2839G>A (p.Asp947Asn)
c.632G>A
c.141G>A
c.2680G>A (p.Asp894Asn)
n.431G>A
c.2650G>A (p.Asp884Asn)
c.2065G>A (p.Asp689Asn)
c.2776G>A (p.Asp926Asn)
c.2002G>A (p.Asp668Asn)
c.1969G>A (p.Asp657Asn)
n.3003G>A
c.2182G>A (p.Asp728Asn)
n.2997G>A
 ClinVar dbSNP
Xg.53247038_53247039insTCA2695234297IQSEC2c.2838_2839insA (p.Asp947ArgfsTer10)
c.631_632insA
c.140_141insA
c.2679_2680insA (p.Asp894ArgfsTer10)
n.430_431insA
c.2649_2650insA (p.Asp884ArgfsTer10)
c.2064_2065insA (p.Asp689ArgfsTer10)
c.2775_2776insA (p.Asp926ArgfsTer10)
c.2001_2002insA (p.Asp668ArgfsTer10)
c.1968_1969insA (p.Asp657ArgfsTer10)
n.3002_3003insA
c.2181_2182insA (p.Asp728ArgfsTer10)
n.2996_2997insA
Xg.53247039G>ACA10419898IQSEC2c.2838C>T (p.Thr946=)
c.631C>T
c.140C>T
c.2679C>T (p.Thr893=)
n.430C>T
c.2649C>T (p.Thr883=)
c.2064C>T (p.Thr688=)
c.2775C>T (p.Thr925=)
c.2001C>T (p.Thr667=)
c.1968C>T (p.Thr656=)
n.3002C>T
c.2181C>T (p.Thr727=)
n.2996C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53247039G>CCA516427252IQSEC2c.2838C>G (p.Thr946=)
c.631C>G
c.140C>G
c.2679C>G (p.Thr893=)
n.430C>G
c.2649C>G (p.Thr883=)
c.2064C>G (p.Thr688=)
c.2775C>G (p.Thr925=)
c.2001C>G (p.Thr667=)
c.1968C>G (p.Thr656=)
n.3002C>G
c.2181C>G (p.Thr727=)
n.2996C>G
 ClinVar dbSNP gnomAD v4
Xg.53247039G=CA2429774600IQSEC2c.2838C= (p.Thr946=)
c.631C=
c.140C=
c.2679C= (p.Thr893=)
n.430C=
c.2649C= (p.Thr883=)
c.2064C= (p.Thr688=)
c.2775C= (p.Thr925=)
c.2001C= (p.Thr667=)
c.1968C= (p.Thr656=)
n.3002C=
c.2181C= (p.Thr727=)
n.2996C=
Xg.53247039G>TCA516427249IQSEC2c.2838C>A (p.Thr946=)
c.631C>A
c.140C>A
c.2679C>A (p.Thr893=)
n.430C>A
c.2649C>A (p.Thr883=)
c.2064C>A (p.Thr688=)
c.2775C>A (p.Thr925=)
c.2001C>A (p.Thr667=)
c.1968C>A (p.Thr656=)
n.3002C>A
c.2181C>A (p.Thr727=)
n.2996C>A
Xg.53247040G>ACA413155765IQSEC2c.2837C>T (p.Thr946Ile)
c.630C>T
c.139C>T
c.2678C>T (p.Thr893Ile)
n.429C>T
c.2648C>T (p.Thr883Ile)
c.2063C>T (p.Thr688Ile)
c.2774C>T (p.Thr925Ile)
c.2000C>T (p.Thr667Ile)
c.1967C>T (p.Thr656Ile)
n.3001C>T
c.2180C>T (p.Thr727Ile)
n.2995C>T
Xg.53247040G>CCA413155774IQSEC2c.2837C>G (p.Thr946Ser)
c.630C>G
c.139C>G
c.2678C>G (p.Thr893Ser)
n.429C>G
c.2648C>G (p.Thr883Ser)
c.2063C>G (p.Thr688Ser)
c.2774C>G (p.Thr925Ser)
c.2000C>G (p.Thr667Ser)
c.1967C>G (p.Thr656Ser)
n.3001C>G
c.2180C>G (p.Thr727Ser)
n.2995C>G
Xg.53247040G>TCA413155768IQSEC2c.2837C>A (p.Thr946Asn)
c.630C>A
c.139C>A
c.2678C>A (p.Thr893Asn)
n.429C>A
c.2648C>A (p.Thr883Asn)
c.2063C>A (p.Thr688Asn)
c.2774C>A (p.Thr925Asn)
c.2000C>A (p.Thr667Asn)
c.1967C>A (p.Thr656Asn)
n.3001C>A
c.2180C>A (p.Thr727Asn)
n.2995C>A
Xg.53247041T>ACA413155776IQSEC2c.2836A>T (p.Thr946Ser)
c.629A>T
c.138A>T
c.2677A>T (p.Thr893Ser)
n.428A>T
c.2647A>T (p.Thr883Ser)
c.2062A>T (p.Thr688Ser)
c.2773A>T (p.Thr925Ser)
c.1999A>T (p.Thr667Ser)
c.1966A>T (p.Thr656Ser)
n.3000A>T
c.2179A>T (p.Thr727Ser)
n.2994A>T
Xg.53247041T>CCA413155781IQSEC2c.2836A>G (p.Thr946Ala)
c.629A>G
c.138A>G
c.2677A>G (p.Thr893Ala)
n.428A>G
c.2647A>G (p.Thr883Ala)
c.2062A>G (p.Thr688Ala)
c.2773A>G (p.Thr925Ala)
c.1999A>G (p.Thr667Ala)
c.1966A>G (p.Thr656Ala)
n.3000A>G
c.2179A>G (p.Thr727Ala)
n.2994A>G
Xg.53247041T>GCA413155784IQSEC2c.2836A>C (p.Thr946Pro)
c.629A>C
c.138A>C
c.2677A>C (p.Thr893Pro)
n.428A>C
c.2647A>C (p.Thr883Pro)
c.2062A>C (p.Thr688Pro)
c.2773A>C (p.Thr925Pro)
c.1999A>C (p.Thr667Pro)
c.1966A>C (p.Thr656Pro)
n.3000A>C
c.2179A>C (p.Thr727Pro)
n.2994A>C
Xg.53247042A>CCA413155787IQSEC2c.2835T>G (p.Asn945Lys)
c.628T>G
c.137T>G
c.2676T>G (p.Asn892Lys)
n.427T>G
c.2646T>G (p.Asn882Lys)
c.2061T>G (p.Asn687Lys)
c.2772T>G (p.Asn924Lys)
c.1998T>G (p.Asn666Lys)
c.1965T>G (p.Asn655Lys)
n.2999T>G
c.2178T>G (p.Asn726Lys)
n.2993T>G
Xg.53247042A>GCA516427263IQSEC2c.2835T>C (p.Asn945=)
c.628T>C
c.137T>C
c.2676T>C (p.Asn892=)
n.427T>C
c.2646T>C (p.Asn882=)
c.2061T>C (p.Asn687=)
c.2772T>C (p.Asn924=)
c.1998T>C (p.Asn666=)
c.1965T>C (p.Asn655=)
n.2999T>C
c.2178T>C (p.Asn726=)
n.2993T>C
Xg.53247042A>TCA413155790IQSEC2c.2835T>A (p.Asn945Lys)
c.628T>A
c.137T>A
c.2676T>A (p.Asn892Lys)
n.427T>A
c.2646T>A (p.Asn882Lys)
c.2061T>A (p.Asn687Lys)
c.2772T>A (p.Asn924Lys)
c.1998T>A (p.Asn666Lys)
c.1965T>A (p.Asn655Lys)
n.2999T>A
c.2178T>A (p.Asn726Lys)
n.2993T>A
Xg.53247043T>ACA413155793IQSEC2c.2834A>T (p.Asn945Ile)
c.627A>T
c.136A>T
c.2675A>T (p.Asn892Ile)
n.426A>T
c.2645A>T (p.Asn882Ile)
c.2060A>T (p.Asn687Ile)
c.2771A>T (p.Asn924Ile)
c.1997A>T (p.Asn666Ile)
c.1964A>T (p.Asn655Ile)
n.2998A>T
c.2177A>T (p.Asn726Ile)
n.2992A>T
Xg.53247043T>CCA413155801IQSEC2c.2834A>G (p.Asn945Ser)
c.627A>G
c.136A>G
c.2675A>G (p.Asn892Ser)
n.426A>G
c.2645A>G (p.Asn882Ser)
c.2060A>G (p.Asn687Ser)
c.2771A>G (p.Asn924Ser)
c.1997A>G (p.Asn666Ser)
c.1964A>G (p.Asn655Ser)
n.2998A>G
c.2177A>G (p.Asn726Ser)
n.2992A>G
Xg.53247043T>GCA413155798IQSEC2c.2834A>C (p.Asn945Thr)
c.627A>C
c.136A>C
c.2675A>C (p.Asn892Thr)
n.426A>C
c.2645A>C (p.Asn882Thr)
c.2060A>C (p.Asn687Thr)
c.2771A>C (p.Asn924Thr)
c.1997A>C (p.Asn666Thr)
c.1964A>C (p.Asn655Thr)
n.2998A>C
c.2177A>C (p.Asn726Thr)
n.2992A>C
 gnomAD v4
Xg.53247044T>ACA413155802IQSEC2c.2833A>T (p.Asn945Tyr)
c.626A>T
c.135A>T
c.2674A>T (p.Asn892Tyr)
n.425A>T
c.2644A>T (p.Asn882Tyr)
c.2059A>T (p.Asn687Tyr)
c.2770A>T (p.Asn924Tyr)
c.1996A>T (p.Asn666Tyr)
c.1963A>T (p.Asn655Tyr)
n.2997A>T
c.2176A>T (p.Asn726Tyr)
n.2991A>T
Xg.53247044T>CCA413155804IQSEC2c.2833A>G (p.Asn945Asp)
c.626A>G
c.135A>G
c.2674A>G (p.Asn892Asp)
n.425A>G
c.2644A>G (p.Asn882Asp)
c.2059A>G (p.Asn687Asp)
c.2770A>G (p.Asn924Asp)
c.1996A>G (p.Asn666Asp)
c.1963A>G (p.Asn655Asp)
n.2997A>G
c.2176A>G (p.Asn726Asp)
n.2991A>G
Xg.53247044T>GCA413155806IQSEC2c.2833A>C (p.Asn945His)
c.626A>C
c.135A>C
c.2674A>C (p.Asn892His)
n.425A>C
c.2644A>C (p.Asn882His)
c.2059A>C (p.Asn687His)
c.2770A>C (p.Asn924His)
c.1996A>C (p.Asn666His)
c.1963A>C (p.Asn655His)
n.2997A>C
c.2176A>C (p.Asn726His)
n.2991A>C
 gnomAD v4
Xg.53247045G>ACA516427285IQSEC2c.2832C>T (p.Leu944=)
c.625C>T
c.134C>T
c.2673C>T (p.Leu891=)
n.424C>T
c.2643C>T (p.Leu881=)
c.2058C>T (p.Leu686=)
c.2769C>T (p.Leu923=)
c.1995C>T (p.Leu665=)
c.1962C>T (p.Leu654=)
n.2996C>T
c.2175C>T (p.Leu725=)
n.2990C>T
Xg.53247045G>CCA516427287IQSEC2c.2832C>G (p.Leu944=)
c.625C>G
c.134C>G
c.2673C>G (p.Leu891=)
n.424C>G
c.2643C>G (p.Leu881=)
c.2058C>G (p.Leu686=)
c.2769C>G (p.Leu923=)
c.1995C>G (p.Leu665=)
c.1962C>G (p.Leu654=)
n.2996C>G
c.2175C>G (p.Leu725=)
n.2990C>G
Xg.53247045G>TCA516427288IQSEC2c.2832C>A (p.Leu944=)
c.625C>A
c.134C>A
c.2673C>A (p.Leu891=)
n.424C>A
c.2643C>A (p.Leu881=)
c.2058C>A (p.Leu686=)
c.2769C>A (p.Leu923=)
c.1995C>A (p.Leu665=)
c.1962C>A (p.Leu654=)
n.2996C>A
c.2175C>A (p.Leu725=)
n.2990C>A
Xg.53247046A>CCA413155810IQSEC2c.2831T>G (p.Leu944Arg)
c.624T>G
c.133T>G
c.2672T>G (p.Leu891Arg)
n.423T>G
c.2642T>G (p.Leu881Arg)
c.2057T>G (p.Leu686Arg)
c.2768T>G (p.Leu923Arg)
c.1994T>G (p.Leu665Arg)
c.1961T>G (p.Leu654Arg)
n.2995T>G
c.2174T>G (p.Leu725Arg)
n.2989T>G
Xg.53247046A>GCA413155812IQSEC2c.2831T>C (p.Leu944Pro)
c.624T>C
c.133T>C
c.2672T>C (p.Leu891Pro)
n.423T>C
c.2642T>C (p.Leu881Pro)
c.2057T>C (p.Leu686Pro)
c.2768T>C (p.Leu923Pro)
c.1994T>C (p.Leu665Pro)
c.1961T>C (p.Leu654Pro)
n.2995T>C
c.2174T>C (p.Leu725Pro)
n.2989T>C
Xg.53247046A>TCA413155813IQSEC2c.2831T>A (p.Leu944His)
c.624T>A
c.133T>A
c.2672T>A (p.Leu891His)
n.423T>A
c.2642T>A (p.Leu881His)
c.2057T>A (p.Leu686His)
c.2768T>A (p.Leu923His)
c.1994T>A (p.Leu665His)
c.1961T>A (p.Leu654His)
n.2995T>A
c.2174T>A (p.Leu725His)
n.2989T>A
Xg.53247047G>ACA413155818IQSEC2c.2830C>T (p.Leu944Phe)
c.623C>T
c.132C>T
c.2671C>T (p.Leu891Phe)
n.422C>T
c.2641C>T (p.Leu881Phe)
c.2056C>T (p.Leu686Phe)
c.2767C>T (p.Leu923Phe)
c.1993C>T (p.Leu665Phe)
c.1960C>T (p.Leu654Phe)
n.2994C>T
c.2173C>T (p.Leu725Phe)
n.2988C>T
Xg.53247047G>CCA413155823IQSEC2c.2830C>G (p.Leu944Val)
c.623C>G
c.132C>G
c.2671C>G (p.Leu891Val)
n.422C>G
c.2641C>G (p.Leu881Val)
c.2056C>G (p.Leu686Val)
c.2767C>G (p.Leu923Val)
c.1993C>G (p.Leu665Val)
c.1960C>G (p.Leu654Val)
n.2994C>G
c.2173C>G (p.Leu725Val)
n.2988C>G
Xg.53247047G>TCA413155826IQSEC2c.2830C>A (p.Leu944Ile)
c.623C>A
c.132C>A
c.2671C>A (p.Leu891Ile)
n.422C>A
c.2641C>A (p.Leu881Ile)
c.2056C>A (p.Leu686Ile)
c.2767C>A (p.Leu923Ile)
c.1993C>A (p.Leu665Ile)
c.1960C>A (p.Leu654Ile)
n.2994C>A
c.2173C>A (p.Leu725Ile)
n.2988C>A
Xg.53247048G>ACA516427301IQSEC2c.2829C>T (p.Leu943=)
c.622C>T
c.131C>T
c.2670C>T (p.Leu890=)
n.421C>T
c.2640C>T (p.Leu880=)
c.2055C>T (p.Leu685=)
c.2766C>T (p.Leu922=)
c.1992C>T (p.Leu664=)
c.1959C>T (p.Leu653=)
n.2993C>T
c.2172C>T (p.Leu724=)
n.2987C>T
 ClinVar dbSNP gnomAD v4
Xg.53247048G>CCA516427302IQSEC2c.2829C>G (p.Leu943=)
c.622C>G
c.131C>G
c.2670C>G (p.Leu890=)
n.421C>G
c.2640C>G (p.Leu880=)
c.2055C>G (p.Leu685=)
c.2766C>G (p.Leu922=)
c.1992C>G (p.Leu664=)
c.1959C>G (p.Leu653=)
n.2993C>G
c.2172C>G (p.Leu724=)
n.2987C>G
Xg.53247048G=CA2429774601IQSEC2c.2829C= (p.Leu943=)
c.622C=
c.131C=
c.2670C= (p.Leu890=)
n.421C=
c.2640C= (p.Leu880=)
c.2055C= (p.Leu685=)
c.2766C= (p.Leu922=)
c.1992C= (p.Leu664=)
c.1959C= (p.Leu653=)
n.2993C=
c.2172C= (p.Leu724=)
n.2987C=
Xg.53247048G>TCA516427304IQSEC2c.2829C>A (p.Leu943=)
c.622C>A
c.131C>A
c.2670C>A (p.Leu890=)
n.421C>A
c.2640C>A (p.Leu880=)
c.2055C>A (p.Leu685=)
c.2766C>A (p.Leu922=)
c.1992C>A (p.Leu664=)
c.1959C>A (p.Leu653=)
n.2993C>A
c.2172C>A (p.Leu724=)
n.2987C>A
Xg.53247049A>CCA413155837IQSEC2c.2828T>G (p.Leu943Arg)
c.621T>G
c.130T>G
c.2669T>G (p.Leu890Arg)
n.420T>G
c.2639T>G (p.Leu880Arg)
c.2054T>G (p.Leu685Arg)
c.2765T>G (p.Leu922Arg)
c.1991T>G (p.Leu664Arg)
c.1958T>G (p.Leu653Arg)
n.2992T>G
c.2171T>G (p.Leu724Arg)
n.2986T>G
Xg.53247049A>GCA413155841IQSEC2c.2828T>C (p.Leu943Pro)
c.621T>C
c.130T>C
c.2669T>C (p.Leu890Pro)
n.420T>C
c.2639T>C (p.Leu880Pro)
c.2054T>C (p.Leu685Pro)
c.2765T>C (p.Leu922Pro)
c.1991T>C (p.Leu664Pro)
c.1958T>C (p.Leu653Pro)
n.2992T>C
c.2171T>C (p.Leu724Pro)
n.2986T>C
Xg.53247049A>TCA413155844IQSEC2c.2828T>A (p.Leu943His)
c.621T>A
c.130T>A
c.2669T>A (p.Leu890His)
n.420T>A
c.2639T>A (p.Leu880His)
c.2054T>A (p.Leu685His)
c.2765T>A (p.Leu922His)
c.1991T>A (p.Leu664His)
c.1958T>A (p.Leu653His)
n.2992T>A
c.2171T>A (p.Leu724His)
n.2986T>A
Xg.53247050G>ACA413155848IQSEC2c.2827C>T (p.Leu943Phe)
c.620C>T
c.129C>T
c.2668C>T (p.Leu890Phe)
n.419C>T
c.2638C>T (p.Leu880Phe)
c.2053C>T (p.Leu685Phe)
c.2764C>T (p.Leu922Phe)
c.1990C>T (p.Leu664Phe)
c.1957C>T (p.Leu653Phe)
n.2991C>T
c.2170C>T (p.Leu724Phe)
n.2985C>T
Xg.53247050G>CCA413155853IQSEC2c.2827C>G (p.Leu943Val)
c.620C>G
c.129C>G
c.2668C>G (p.Leu890Val)
n.419C>G
c.2638C>G (p.Leu880Val)
c.2053C>G (p.Leu685Val)
c.2764C>G (p.Leu922Val)
c.1990C>G (p.Leu664Val)
c.1957C>G (p.Leu653Val)
n.2991C>G
c.2170C>G (p.Leu724Val)
n.2985C>G
Xg.53247050G>TCA413155851IQSEC2c.2827C>A (p.Leu943Ile)
c.620C>A
c.129C>A
c.2668C>A (p.Leu890Ile)
n.419C>A
c.2638C>A (p.Leu880Ile)
c.2053C>A (p.Leu685Ile)
c.2764C>A (p.Leu922Ile)
c.1990C>A (p.Leu664Ile)
c.1957C>A (p.Leu653Ile)
n.2991C>A
c.2170C>A (p.Leu724Ile)
n.2985C>A
Xg.53247051G>ACA516427324IQSEC2c.2826C>T (p.Ile942=)
c.619C>T
c.128C>T
c.2667C>T (p.Ile889=)
n.418C>T
c.2637C>T (p.Ile879=)
c.2052C>T (p.Ile684=)
c.2763C>T (p.Ile921=)
c.1989C>T (p.Ile663=)
c.1956C>T (p.Ile652=)
n.2990C>T
c.2169C>T (p.Ile723=)
n.2984C>T
 ClinVar dbSNP
Xg.53247051G>CCA413155858IQSEC2c.2826C>G (p.Ile942Met)
c.619C>G
c.128C>G
c.2667C>G (p.Ile889Met)
n.418C>G
c.2637C>G (p.Ile879Met)
c.2052C>G (p.Ile684Met)
c.2763C>G (p.Ile921Met)
c.1989C>G (p.Ile663Met)
c.1956C>G (p.Ile652Met)
n.2990C>G
c.2169C>G (p.Ile723Met)
n.2984C>G
Xg.53247051G>TCA516427339IQSEC2c.2826C>A (p.Ile942=)
c.619C>A
c.128C>A
c.2667C>A (p.Ile889=)
n.418C>A
c.2637C>A (p.Ile879=)
c.2052C>A (p.Ile684=)
c.2763C>A (p.Ile921=)
c.1989C>A (p.Ile663=)
c.1956C>A (p.Ile652=)
n.2990C>A
c.2169C>A (p.Ile723=)
n.2984C>A
Xg.53247055_53247057delCA2695234298IQSEC2c.2824_2826del (p.Ile942del)
c.617_619del
c.126_128del
c.2665_2667del (p.Ile889del)
n.416_418del
c.2635_2637del (p.Ile879del)
c.2050_2052del (p.Ile684del)
c.2761_2763del (p.Ile921del)
c.1987_1989del (p.Ile663del)
c.1954_1956del (p.Ile652del)
n.2988_2990del
c.2167_2169del (p.Ile723del)
n.2982_2984del
Xg.53247052A>CCA413155860IQSEC2c.2825T>G (p.Ile942Ser)
c.618T>G
c.127T>G
c.2666T>G (p.Ile889Ser)
n.417T>G
c.2636T>G (p.Ile879Ser)
c.2051T>G (p.Ile684Ser)
c.2762T>G (p.Ile921Ser)
c.1988T>G (p.Ile663Ser)
c.1955T>G (p.Ile652Ser)
n.2989T>G
c.2168T>G (p.Ile723Ser)
n.2983T>G
Xg.53247052A>GCA413155863IQSEC2c.2825T>C (p.Ile942Thr)
c.618T>C
c.127T>C
c.2666T>C (p.Ile889Thr)
n.417T>C
c.2636T>C (p.Ile879Thr)
c.2051T>C (p.Ile684Thr)
c.2762T>C (p.Ile921Thr)
c.1988T>C (p.Ile663Thr)
c.1955T>C (p.Ile652Thr)
n.2989T>C
c.2168T>C (p.Ile723Thr)
n.2983T>C
Xg.53247052A>TCA413155865IQSEC2c.2825T>A (p.Ile942Asn)
c.618T>A
c.127T>A
c.2666T>A (p.Ile889Asn)
n.417T>A
c.2636T>A (p.Ile879Asn)
c.2051T>A (p.Ile684Asn)
c.2762T>A (p.Ile921Asn)
c.1988T>A (p.Ile663Asn)
c.1955T>A (p.Ile652Asn)
n.2989T>A
c.2168T>A (p.Ile723Asn)
n.2983T>A
Xg.53247053T>ACA413155869IQSEC2c.2824A>T (p.Ile942Phe)
c.617A>T
c.126A>T
c.2665A>T (p.Ile889Phe)
n.416A>T
c.2635A>T (p.Ile879Phe)
c.2050A>T (p.Ile684Phe)
c.2761A>T (p.Ile921Phe)
c.1987A>T (p.Ile663Phe)
c.1954A>T (p.Ile652Phe)
n.2988A>T
c.2167A>T (p.Ile723Phe)
n.2982A>T
Xg.53247053T>CCA413155871IQSEC2c.2824A>G (p.Ile942Val)
c.617A>G
c.126A>G
c.2665A>G (p.Ile889Val)
n.416A>G
c.2635A>G (p.Ile879Val)
c.2050A>G (p.Ile684Val)
c.2761A>G (p.Ile921Val)
c.1987A>G (p.Ile663Val)
c.1954A>G (p.Ile652Val)
n.2988A>G
c.2167A>G (p.Ile723Val)
n.2982A>G
Xg.53247053T>GCA413155873IQSEC2c.2824A>C (p.Ile942Leu)
c.617A>C
c.126A>C
c.2665A>C (p.Ile889Leu)
n.416A>C
c.2635A>C (p.Ile879Leu)
c.2050A>C (p.Ile684Leu)
c.2761A>C (p.Ile921Leu)
c.1987A>C (p.Ile663Leu)
c.1954A>C (p.Ile652Leu)
n.2988A>C
c.2167A>C (p.Ile723Leu)
n.2982A>C
Xg.53247054G>ACA516427356IQSEC2c.2823C>T (p.Ile941=)
c.616C>T
c.125C>T
c.2664C>T (p.Ile888=)
n.415C>T
c.2634C>T (p.Ile878=)
c.2049C>T (p.Ile683=)
c.2760C>T (p.Ile920=)
c.1986C>T (p.Ile662=)
c.1953C>T (p.Ile651=)
n.2987C>T
c.2166C>T (p.Ile722=)
n.2981C>T
Xg.53247054G>CCA413155875IQSEC2c.2823C>G (p.Ile941Met)
c.616C>G
c.125C>G
c.2664C>G (p.Ile888Met)
n.415C>G
c.2634C>G (p.Ile878Met)
c.2049C>G (p.Ile683Met)
c.2760C>G (p.Ile920Met)
c.1986C>G (p.Ile662Met)
c.1953C>G (p.Ile651Met)
n.2987C>G
c.2166C>G (p.Ile722Met)
n.2981C>G
Xg.53247054G>TCA516427359IQSEC2c.2823C>A (p.Ile941=)
c.616C>A
c.125C>A
c.2664C>A (p.Ile888=)
n.415C>A
c.2634C>A (p.Ile878=)
c.2049C>A (p.Ile683=)
c.2760C>A (p.Ile920=)
c.1986C>A (p.Ile662=)
c.1953C>A (p.Ile651=)
n.2987C>A
c.2166C>A (p.Ile722=)
n.2981C>A
Xg.53247055A>CCA413155878IQSEC2c.2822T>G (p.Ile941Ser)
c.615T>G
c.124T>G
c.2663T>G (p.Ile888Ser)
n.414T>G
c.2633T>G (p.Ile878Ser)
c.2048T>G (p.Ile683Ser)
c.2759T>G (p.Ile920Ser)
c.1985T>G (p.Ile662Ser)
c.1952T>G (p.Ile651Ser)
n.2986T>G
c.2165T>G (p.Ile722Ser)
n.2980T>G
Xg.53247055A>GCA413155881IQSEC2c.2822T>C (p.Ile941Thr)
c.615T>C
c.124T>C
c.2663T>C (p.Ile888Thr)
n.414T>C
c.2633T>C (p.Ile878Thr)
c.2048T>C (p.Ile683Thr)
c.2759T>C (p.Ile920Thr)
c.1985T>C (p.Ile662Thr)
c.1952T>C (p.Ile651Thr)
n.2986T>C
c.2165T>C (p.Ile722Thr)
n.2980T>C
Xg.53247055A>TCA413155882IQSEC2c.2822T>A (p.Ile941Asn)
c.615T>A
c.124T>A
c.2663T>A (p.Ile888Asn)
n.414T>A
c.2633T>A (p.Ile878Asn)
c.2048T>A (p.Ile683Asn)
c.2759T>A (p.Ile920Asn)
c.1985T>A (p.Ile662Asn)
c.1952T>A (p.Ile651Asn)
n.2986T>A
c.2165T>A (p.Ile722Asn)
n.2980T>A
Xg.53247056T>ACA413155886IQSEC2c.2821A>T (p.Ile941Phe)
c.614A>T
c.123A>T
c.2662A>T (p.Ile888Phe)
n.413A>T
c.2632A>T (p.Ile878Phe)
c.2047A>T (p.Ile683Phe)
c.2758A>T (p.Ile920Phe)
c.1984A>T (p.Ile662Phe)
c.1951A>T (p.Ile651Phe)
n.2985A>T
c.2164A>T (p.Ile722Phe)
n.2979A>T
Xg.53247056T>CCA329165251IQSEC2c.2821A>G (p.Ile941Val)
c.614A>G
c.123A>G
c.2662A>G (p.Ile888Val)
n.413A>G
c.2632A>G (p.Ile878Val)
c.2047A>G (p.Ile683Val)
c.2758A>G (p.Ile920Val)
c.1984A>G (p.Ile662Val)
c.1951A>G (p.Ile651Val)
n.2985A>G
c.2164A>G (p.Ile722Val)
n.2979A>G
 ClinVar dbSNP
Xg.53247056T>GCA413155888IQSEC2c.2821A>C (p.Ile941Leu)
c.614A>C
c.123A>C
c.2662A>C (p.Ile888Leu)
n.413A>C
c.2632A>C (p.Ile878Leu)
c.2047A>C (p.Ile683Leu)
c.2758A>C (p.Ile920Leu)
c.1984A>C (p.Ile662Leu)
c.1951A>C (p.Ile651Leu)
n.2985A>C
c.2164A>C (p.Ile722Leu)
n.2979A>C
Xg.53247056T=CA2429774602IQSEC2c.2821A= (p.Ile941=)
c.614A=
c.123A=
c.2662A= (p.Ile888=)
n.413A=
c.2632A= (p.Ile878=)
c.2047A= (p.Ile683=)
c.2758A= (p.Ile920=)
c.1984A= (p.Ile662=)
c.1951A= (p.Ile651=)
n.2985A=
c.2164A= (p.Ile722=)
n.2979A=
Xg.53247056dupCA2695234299IQSEC2c.2821dup (p.Ile941AsnfsTer16)
c.614dup
c.123dup
c.2662dup (p.Ile888AsnfsTer16)
n.413dup
c.2632dup (p.Ile878AsnfsTer16)
c.2047dup (p.Ile683AsnfsTer16)
c.2758dup (p.Ile920AsnfsTer16)
c.1984dup (p.Ile662AsnfsTer16)
c.1951dup (p.Ile651AsnfsTer16)
n.2985dup
c.2164dup (p.Ile722AsnfsTer16)
n.2979dup
Xg.53247057G>ACA516427369IQSEC2c.2820C>T (p.Ala940=)
c.613C>T
c.122C>T
c.2661C>T (p.Ala887=)
n.412C>T
c.2631C>T (p.Ala877=)
c.2046C>T (p.Ala682=)
c.2757C>T (p.Ala919=)
c.1983C>T (p.Ala661=)
c.1950C>T (p.Ala650=)
n.2984C>T
c.2163C>T (p.Ala721=)
n.2978C>T
Xg.53247057G>CCA516427371IQSEC2c.2820C>G (p.Ala940=)
c.613C>G
c.122C>G
c.2661C>G (p.Ala887=)
n.412C>G
c.2631C>G (p.Ala877=)
c.2046C>G (p.Ala682=)
c.2757C>G (p.Ala919=)
c.1983C>G (p.Ala661=)
c.1950C>G (p.Ala650=)
n.2984C>G
c.2163C>G (p.Ala721=)
n.2978C>G
Xg.53247057G>TCA516427375IQSEC2c.2820C>A (p.Ala940=)
c.613C>A
c.122C>A
c.2661C>A (p.Ala887=)
n.412C>A
c.2631C>A (p.Ala877=)
c.2046C>A (p.Ala682=)
c.2757C>A (p.Ala919=)
c.1983C>A (p.Ala661=)
c.1950C>A (p.Ala650=)
n.2984C>A
c.2163C>A (p.Ala721=)
n.2978C>A
Xg.53247058G>ACA413155890IQSEC2c.2819C>T (p.Ala940Val)
c.612C>T
c.121C>T
c.2660C>T (p.Ala887Val)
n.411C>T
c.2630C>T (p.Ala877Val)
c.2045C>T (p.Ala682Val)
c.2756C>T (p.Ala919Val)
c.1982C>T (p.Ala661Val)
c.1949C>T (p.Ala650Val)
n.2983C>T
c.2162C>T (p.Ala721Val)
n.2977C>T
Xg.53247058G>CCA413155899IQSEC2c.2819C>G (p.Ala940Gly)
c.612C>G
c.121C>G
c.2660C>G (p.Ala887Gly)
n.411C>G
c.2630C>G (p.Ala877Gly)
c.2045C>G (p.Ala682Gly)
c.2756C>G (p.Ala919Gly)
c.1982C>G (p.Ala661Gly)
c.1949C>G (p.Ala650Gly)
n.2983C>G
c.2162C>G (p.Ala721Gly)
n.2977C>G
Xg.53247058G>TCA413155895IQSEC2c.2819C>A (p.Ala940Asp)
c.612C>A
c.121C>A
c.2660C>A (p.Ala887Asp)
n.411C>A
c.2630C>A (p.Ala877Asp)
c.2045C>A (p.Ala682Asp)
c.2756C>A (p.Ala919Asp)
c.1982C>A (p.Ala661Asp)
c.1949C>A (p.Ala650Asp)
n.2983C>A
c.2162C>A (p.Ala721Asp)
n.2977C>A
Xg.53247059C>ACA413155901IQSEC2c.2818G>T (p.Ala940Ser)
c.611G>T
c.120G>T
c.2659G>T (p.Ala887Ser)
n.410G>T
c.2629G>T (p.Ala877Ser)
c.2044G>T (p.Ala682Ser)
c.2755G>T (p.Ala919Ser)
c.1981G>T (p.Ala661Ser)
c.1948G>T (p.Ala650Ser)
n.2982G>T
c.2161G>T (p.Ala721Ser)
n.2976G>T
Xg.53247059C>GCA413155904IQSEC2c.2818G>C (p.Ala940Pro)
c.611G>C
c.120G>C
c.2659G>C (p.Ala887Pro)
n.410G>C
c.2629G>C (p.Ala877Pro)
c.2044G>C (p.Ala682Pro)
c.2755G>C (p.Ala919Pro)
c.1981G>C (p.Ala661Pro)
c.1948G>C (p.Ala650Pro)
n.2982G>C
c.2161G>C (p.Ala721Pro)
n.2976G>C
Xg.53247059C>TCA413155906IQSEC2c.2818G>A (p.Ala940Thr)
c.611G>A
c.120G>A
c.2659G>A (p.Ala887Thr)
n.410G>A
c.2629G>A (p.Ala877Thr)
c.2044G>A (p.Ala682Thr)
c.2755G>A (p.Ala919Thr)
c.1981G>A (p.Ala661Thr)
c.1948G>A (p.Ala650Thr)
n.2982G>A
c.2161G>A (p.Ala721Thr)
n.2976G>A
Xg.53247060A>CCA413155908IQSEC2c.2817T>G (p.Phe939Leu)
c.610T>G
c.119T>G
c.2658T>G (p.Phe886Leu)
n.409T>G
c.2628T>G (p.Phe876Leu)
c.2043T>G (p.Phe681Leu)
c.2754T>G (p.Phe918Leu)
c.1980T>G (p.Phe660Leu)
c.1947T>G (p.Phe649Leu)
n.2981T>G
c.2160T>G (p.Phe720Leu)
n.2975T>G
Xg.53247060A>GCA516427398IQSEC2c.2817T>C (p.Phe939=)
c.610T>C
c.119T>C
c.2658T>C (p.Phe886=)
n.409T>C
c.2628T>C (p.Phe876=)
c.2043T>C (p.Phe681=)
c.2754T>C (p.Phe918=)
c.1980T>C (p.Phe660=)
c.1947T>C (p.Phe649=)
n.2981T>C
c.2160T>C (p.Phe720=)
n.2975T>C
Xg.53247060A>TCA413155912IQSEC2c.2817T>A (p.Phe939Leu)
c.610T>A
c.119T>A
c.2658T>A (p.Phe886Leu)
n.409T>A
c.2628T>A (p.Phe876Leu)
c.2043T>A (p.Phe681Leu)
c.2754T>A (p.Phe918Leu)
c.1980T>A (p.Phe660Leu)
c.1947T>A (p.Phe649Leu)
n.2981T>A
c.2160T>A (p.Phe720Leu)
n.2975T>A
 ClinVar dbSNP
Xg.53247061A>CCA413155915IQSEC2c.2816T>G (p.Phe939Cys)
c.609T>G
c.118T>G
c.2657T>G (p.Phe886Cys)
n.408T>G
c.2627T>G (p.Phe876Cys)
c.2042T>G (p.Phe681Cys)
c.2753T>G (p.Phe918Cys)
c.1979T>G (p.Phe660Cys)
c.1946T>G (p.Phe649Cys)
n.2980T>G
c.2159T>G (p.Phe720Cys)
n.2974T>G
Xg.53247061A>GCA413155919IQSEC2c.2816T>C (p.Phe939Ser)
c.609T>C
c.118T>C
c.2657T>C (p.Phe886Ser)
n.408T>C
c.2627T>C (p.Phe876Ser)
c.2042T>C (p.Phe681Ser)
c.2753T>C (p.Phe918Ser)
c.1979T>C (p.Phe660Ser)
c.1946T>C (p.Phe649Ser)
n.2980T>C
c.2159T>C (p.Phe720Ser)
n.2974T>C
Xg.53247061A>TCA413155922IQSEC2c.2816T>A (p.Phe939Tyr)
c.609T>A
c.118T>A
c.2657T>A (p.Phe886Tyr)
n.408T>A
c.2627T>A (p.Phe876Tyr)
c.2042T>A (p.Phe681Tyr)
c.2753T>A (p.Phe918Tyr)
c.1979T>A (p.Phe660Tyr)
c.1946T>A (p.Phe649Tyr)
n.2980T>A
c.2159T>A (p.Phe720Tyr)
n.2974T>A
Xg.53247062A>CCA413155925IQSEC2c.2815T>G (p.Phe939Val)
c.608T>G
c.117T>G
c.2656T>G (p.Phe886Val)
n.407T>G
c.2626T>G (p.Phe876Val)
c.2041T>G (p.Phe681Val)
c.2752T>G (p.Phe918Val)
c.1978T>G (p.Phe660Val)
c.1945T>G (p.Phe649Val)
n.2979T>G
c.2158T>G (p.Phe720Val)
n.2973T>G
Xg.53247062A>GCA413155926IQSEC2c.2815T>C (p.Phe939Leu)
c.608T>C
c.117T>C
c.2656T>C (p.Phe886Leu)
n.407T>C
c.2626T>C (p.Phe876Leu)
c.2041T>C (p.Phe681Leu)
c.2752T>C (p.Phe918Leu)
c.1978T>C (p.Phe660Leu)
c.1945T>C (p.Phe649Leu)
n.2979T>C
c.2158T>C (p.Phe720Leu)
n.2973T>C
Xg.53247062A>TCA413155929IQSEC2c.2815T>A (p.Phe939Ile)
c.608T>A
c.117T>A
c.2656T>A (p.Phe886Ile)
n.407T>A
c.2626T>A (p.Phe876Ile)
c.2041T>A (p.Phe681Ile)
c.2752T>A (p.Phe918Ile)
c.1978T>A (p.Phe660Ile)
c.1945T>A (p.Phe649Ile)
n.2979T>A
c.2158T>A (p.Phe720Ile)
n.2973T>A
Xg.53247063A=CA2429774603IQSEC2c.2814T= (p.Ala938=)
c.607T=
c.116T=
c.2655T= (p.Ala885=)
n.406T=
c.2625T= (p.Ala875=)
c.2040T= (p.Ala680=)
c.2751T= (p.Ala917=)
c.1977T= (p.Ala659=)
c.1944T= (p.Ala648=)
n.2978T=
c.2157T= (p.Ala719=)
n.2972T=
Xg.53247063A>CCA516427413IQSEC2c.2814T>G (p.Ala938=)
c.607T>G
c.116T>G
c.2655T>G (p.Ala885=)
n.406T>G
c.2625T>G (p.Ala875=)
c.2040T>G (p.Ala680=)
c.2751T>G (p.Ala917=)
c.1977T>G (p.Ala659=)
c.1944T>G (p.Ala648=)
n.2978T>G
c.2157T>G (p.Ala719=)
n.2972T>G
Xg.53247063A>GCA10419899IQSEC2c.2814T>C (p.Ala938=)
c.607T>C
c.116T>C
c.2655T>C (p.Ala885=)
n.406T>C
c.2625T>C (p.Ala875=)
c.2040T>C (p.Ala680=)
c.2751T>C (p.Ala917=)
c.1977T>C (p.Ala659=)
c.1944T>C (p.Ala648=)
n.2978T>C
c.2157T>C (p.Ala719=)
n.2972T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53247063A>TCA516427417IQSEC2c.2814T>A (p.Ala938=)
c.607T>A
c.116T>A
c.2655T>A (p.Ala885=)
n.406T>A
c.2625T>A (p.Ala875=)
c.2040T>A (p.Ala680=)
c.2751T>A (p.Ala917=)
c.1977T>A (p.Ala659=)
c.1944T>A (p.Ala648=)
n.2978T>A
c.2157T>A (p.Ala719=)
n.2972T>A
Xg.53247064G>ACA413155943IQSEC2c.2813C>T (p.Ala938Val)
c.606C>T
c.115C>T
c.2654C>T (p.Ala885Val)
n.405C>T
c.2624C>T (p.Ala875Val)
c.2039C>T (p.Ala680Val)
c.2750C>T (p.Ala917Val)
c.1976C>T (p.Ala659Val)
c.1943C>T (p.Ala648Val)
n.2977C>T
c.2156C>T (p.Ala719Val)
n.2971C>T
Xg.53247064G>CCA413155941IQSEC2c.2813C>G (p.Ala938Gly)
c.606C>G
c.115C>G
c.2654C>G (p.Ala885Gly)
n.405C>G
c.2624C>G (p.Ala875Gly)
c.2039C>G (p.Ala680Gly)
c.2750C>G (p.Ala917Gly)
c.1976C>G (p.Ala659Gly)
c.1943C>G (p.Ala648Gly)
n.2977C>G
c.2156C>G (p.Ala719Gly)
n.2971C>G
Xg.53247064G>TCA413155946IQSEC2c.2813C>A (p.Ala938Asp)
c.606C>A
c.115C>A
c.2654C>A (p.Ala885Asp)
n.405C>A
c.2624C>A (p.Ala875Asp)
c.2039C>A (p.Ala680Asp)
c.2750C>A (p.Ala917Asp)
c.1976C>A (p.Ala659Asp)
c.1943C>A (p.Ala648Asp)
n.2977C>A
c.2156C>A (p.Ala719Asp)
n.2971C>A
Xg.53247065C>ACA413155951IQSEC2c.2812G>T (p.Ala938Ser)
c.605G>T
c.114G>T
c.2653G>T (p.Ala885Ser)
n.404G>T
c.2623G>T (p.Ala875Ser)
c.2038G>T (p.Ala680Ser)
c.2749G>T (p.Ala917Ser)
c.1975G>T (p.Ala659Ser)
c.1942G>T (p.Ala648Ser)
n.2976G>T
c.2155G>T (p.Ala719Ser)
n.2970G>T
Xg.53247065C>GCA413155955IQSEC2c.2812G>C (p.Ala938Pro)
c.605G>C
c.114G>C
c.2653G>C (p.Ala885Pro)
n.404G>C
c.2623G>C (p.Ala875Pro)
c.2038G>C (p.Ala680Pro)
c.2749G>C (p.Ala917Pro)
c.1975G>C (p.Ala659Pro)
c.1942G>C (p.Ala648Pro)
n.2976G>C
c.2155G>C (p.Ala719Pro)
n.2970G>C
Xg.53247065C>TCA413155960IQSEC2c.2812G>A (p.Ala938Thr)
c.605G>A
c.114G>A
c.2653G>A (p.Ala885Thr)
n.404G>A
c.2623G>A (p.Ala875Thr)
c.2038G>A (p.Ala680Thr)
c.2749G>A (p.Ala917Thr)
c.1975G>A (p.Ala659Thr)
c.1942G>A (p.Ala648Thr)
n.2976G>A
c.2155G>A (p.Ala719Thr)
n.2970G>A
Xg.53247066A=CA2429774604IQSEC2c.2811T= (p.Leu937=)
c.604T=
c.113T=
c.2652T= (p.Leu884=)
n.403T=
c.2622T= (p.Leu874=)
c.2037T= (p.Leu679=)
c.2748T= (p.Leu916=)
c.1974T= (p.Leu658=)
c.1941T= (p.Leu647=)
n.2975T=
c.2154T= (p.Leu718=)
n.2969T=
Xg.53247066A>CCA516427432IQSEC2c.2811T>G (p.Leu937=)
c.604T>G
c.113T>G
c.2652T>G (p.Leu884=)
n.403T>G
c.2622T>G (p.Leu874=)
c.2037T>G (p.Leu679=)
c.2748T>G (p.Leu916=)
c.1974T>G (p.Leu658=)
c.1941T>G (p.Leu647=)
n.2975T>G
c.2154T>G (p.Leu718=)
n.2969T>G
Xg.53247066A>GCA516427435IQSEC2c.2811T>C (p.Leu937=)
c.604T>C
c.113T>C
c.2652T>C (p.Leu884=)
n.403T>C
c.2622T>C (p.Leu874=)
c.2037T>C (p.Leu679=)
c.2748T>C (p.Leu916=)
c.1974T>C (p.Leu658=)
c.1941T>C (p.Leu647=)
n.2975T>C
c.2154T>C (p.Leu718=)
n.2969T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53247066A>TCA516427438IQSEC2c.2811T>A (p.Leu937=)
c.604T>A
c.113T>A
c.2652T>A (p.Leu884=)
n.403T>A
c.2622T>A (p.Leu874=)
c.2037T>A (p.Leu679=)
c.2748T>A (p.Leu916=)
c.1974T>A (p.Leu658=)
c.1941T>A (p.Leu647=)
n.2975T>A
c.2154T>A (p.Leu718=)
n.2969T>A
Xg.53247067A>CCA413155964IQSEC2c.2810T>G (p.Leu937Arg)
c.603T>G
c.112T>G
c.2651T>G (p.Leu884Arg)
n.402T>G
c.2621T>G (p.Leu874Arg)
c.2036T>G (p.Leu679Arg)
c.2747T>G (p.Leu916Arg)
c.1973T>G (p.Leu658Arg)
c.1940T>G (p.Leu647Arg)
n.2974T>G
c.2153T>G (p.Leu718Arg)
n.2968T>G
Xg.53247067A>GCA413155966IQSEC2c.2810T>C (p.Leu937Pro)
c.603T>C
c.112T>C
c.2651T>C (p.Leu884Pro)
n.402T>C
c.2621T>C (p.Leu874Pro)
c.2036T>C (p.Leu679Pro)
c.2747T>C (p.Leu916Pro)
c.1973T>C (p.Leu658Pro)
c.1940T>C (p.Leu647Pro)
n.2974T>C
c.2153T>C (p.Leu718Pro)
n.2968T>C
Xg.53247067A>TCA413155968IQSEC2c.2810T>A (p.Leu937His)
c.603T>A
c.112T>A
c.2651T>A (p.Leu884His)
n.402T>A
c.2621T>A (p.Leu874His)
c.2036T>A (p.Leu679His)
c.2747T>A (p.Leu916His)
c.1973T>A (p.Leu658His)
c.1940T>A (p.Leu647His)
n.2974T>A
c.2153T>A (p.Leu718His)
n.2968T>A
Xg.53247068G>ACA413155971IQSEC2c.2809C>T (p.Leu937Phe)
c.602C>T
c.111C>T
c.2650C>T (p.Leu884Phe)
n.401C>T
c.2620C>T (p.Leu874Phe)
c.2035C>T (p.Leu679Phe)
c.2746C>T (p.Leu916Phe)
c.1972C>T (p.Leu658Phe)
c.1939C>T (p.Leu647Phe)
n.2973C>T
c.2152C>T (p.Leu718Phe)
n.2967C>T
Xg.53247068G>CCA413155975IQSEC2c.2809C>G (p.Leu937Val)
c.602C>G
c.111C>G
c.2650C>G (p.Leu884Val)
n.401C>G
c.2620C>G (p.Leu874Val)
c.2035C>G (p.Leu679Val)
c.2746C>G (p.Leu916Val)
c.1972C>G (p.Leu658Val)
c.1939C>G (p.Leu647Val)
n.2973C>G
c.2152C>G (p.Leu718Val)
n.2967C>G
Xg.53247068G>TCA413155982IQSEC2c.2809C>A (p.Leu937Ile)
c.602C>A
c.111C>A
c.2650C>A (p.Leu884Ile)
n.401C>A
c.2620C>A (p.Leu874Ile)
c.2035C>A (p.Leu679Ile)
c.2746C>A (p.Leu916Ile)
c.1972C>A (p.Leu658Ile)
c.1939C>A (p.Leu647Ile)
n.2973C>A
c.2152C>A (p.Leu718Ile)
n.2967C>A
Xg.53247069G>ACA516427454IQSEC2c.2808C>T (p.Ile936=)
c.601C>T
c.110C>T
c.2649C>T (p.Ile883=)
n.400C>T
c.2619C>T (p.Ile873=)
c.2034C>T (p.Ile678=)
c.2745C>T (p.Ile915=)
c.1971C>T (p.Ile657=)
c.1938C>T (p.Ile646=)
n.2972C>T
c.2151C>T (p.Ile717=)
n.2966C>T
Xg.53247069G>CCA413155984IQSEC2c.2808C>G (p.Ile936Met)
c.601C>G
c.110C>G
c.2649C>G (p.Ile883Met)
n.400C>G
c.2619C>G (p.Ile873Met)
c.2034C>G (p.Ile678Met)
c.2745C>G (p.Ile915Met)
c.1971C>G (p.Ile657Met)
c.1938C>G (p.Ile646Met)
n.2972C>G
c.2151C>G (p.Ile717Met)
n.2966C>G
Xg.53247069G>TCA516427450IQSEC2c.2808C>A (p.Ile936=)
c.601C>A
c.110C>A
c.2649C>A (p.Ile883=)
n.400C>A
c.2619C>A (p.Ile873=)
c.2034C>A (p.Ile678=)
c.2745C>A (p.Ile915=)
c.1971C>A (p.Ile657=)
c.1938C>A (p.Ile646=)
n.2972C>A
c.2151C>A (p.Ile717=)
n.2966C>A
Xg.53247070A>CCA413155990IQSEC2c.2807T>G (p.Ile936Ser)
c.600T>G
c.109T>G
c.2648T>G (p.Ile883Ser)
n.399T>G
c.2618T>G (p.Ile873Ser)
c.2033T>G (p.Ile678Ser)
c.2744T>G (p.Ile915Ser)
c.1970T>G (p.Ile657Ser)
c.1937T>G (p.Ile646Ser)
n.2971T>G
c.2150T>G (p.Ile717Ser)
n.2965T>G
Xg.53247070A>GCA413155994IQSEC2c.2807T>C (p.Ile936Thr)
c.600T>C
c.109T>C
c.2648T>C (p.Ile883Thr)
n.399T>C
c.2618T>C (p.Ile873Thr)
c.2033T>C (p.Ile678Thr)
c.2744T>C (p.Ile915Thr)
c.1970T>C (p.Ile657Thr)
c.1937T>C (p.Ile646Thr)
n.2971T>C
c.2150T>C (p.Ile717Thr)
n.2965T>C
 ClinVar
Xg.53247070A>TCA413155997IQSEC2c.2807T>A (p.Ile936Asn)
c.600T>A
c.109T>A
c.2648T>A (p.Ile883Asn)
n.399T>A
c.2618T>A (p.Ile873Asn)
c.2033T>A (p.Ile678Asn)
c.2744T>A (p.Ile915Asn)
c.1970T>A (p.Ile657Asn)
c.1937T>A (p.Ile646Asn)
n.2971T>A
c.2150T>A (p.Ile717Asn)
n.2965T>A
Xg.53247071T>ACA413156007IQSEC2c.2806A>T (p.Ile936Phe)
c.599A>T
c.108A>T
c.2647A>T (p.Ile883Phe)
n.398A>T
c.2617A>T (p.Ile873Phe)
c.2032A>T (p.Ile678Phe)
c.2743A>T (p.Ile915Phe)
c.1969A>T (p.Ile657Phe)
c.1936A>T (p.Ile646Phe)
n.2970A>T
c.2149A>T (p.Ile717Phe)
n.2964A>T
Xg.53247071T>CCA413156002IQSEC2c.2806A>G (p.Ile936Val)
c.599A>G
c.108A>G
c.2647A>G (p.Ile883Val)
n.398A>G
c.2617A>G (p.Ile873Val)
c.2032A>G (p.Ile678Val)
c.2743A>G (p.Ile915Val)
c.1969A>G (p.Ile657Val)
c.1936A>G (p.Ile646Val)
n.2970A>G
c.2149A>G (p.Ile717Val)
n.2964A>G
Xg.53247071T>GCA413156005IQSEC2c.2806A>C (p.Ile936Leu)
c.599A>C
c.108A>C
c.2647A>C (p.Ile883Leu)
n.398A>C
c.2617A>C (p.Ile873Leu)
c.2032A>C (p.Ile678Leu)
c.2743A>C (p.Ile915Leu)
c.1969A>C (p.Ile657Leu)
c.1936A>C (p.Ile646Leu)
n.2970A>C
c.2149A>C (p.Ile717Leu)
n.2964A>C
Xg.53247072G>ACA516427463IQSEC2c.2805C>T (p.Phe935=)
c.598C>T
c.107C>T
c.2646C>T (p.Phe882=)
n.397C>T
c.2616C>T (p.Phe872=)
c.2031C>T (p.Phe677=)
c.2742C>T (p.Phe914=)
c.1968C>T (p.Phe656=)
c.1935C>T (p.Phe645=)
n.2969C>T
c.2148C>T (p.Phe716=)
n.2963C>T
 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53247072G>CCA413156009IQSEC2c.2805C>G (p.Phe935Leu)
c.598C>G
c.107C>G
c.2646C>G (p.Phe882Leu)
n.397C>G
c.2616C>G (p.Phe872Leu)
c.2031C>G (p.Phe677Leu)
c.2742C>G (p.Phe914Leu)
c.1968C>G (p.Phe656Leu)
c.1935C>G (p.Phe645Leu)
n.2969C>G
c.2148C>G (p.Phe716Leu)
n.2963C>G
Xg.53247072G=CA2429774605IQSEC2c.2805C= (p.Phe935=)
c.598C=
c.107C=
c.2646C= (p.Phe882=)
n.397C=
c.2616C= (p.Phe872=)
c.2031C= (p.Phe677=)
c.2742C= (p.Phe914=)
c.1968C= (p.Phe656=)
c.1935C= (p.Phe645=)
n.2969C=
c.2148C= (p.Phe716=)
n.2963C=
Xg.53247072G>TCA413156011IQSEC2c.2805C>A (p.Phe935Leu)
c.598C>A
c.107C>A
c.2646C>A (p.Phe882Leu)
n.397C>A
c.2616C>A (p.Phe872Leu)
c.2031C>A (p.Phe677Leu)
c.2742C>A (p.Phe914Leu)
c.1968C>A (p.Phe656Leu)
c.1935C>A (p.Phe645Leu)
n.2969C>A
c.2148C>A (p.Phe716Leu)
n.2963C>A
Xg.53247073A>CCA413156014IQSEC2c.2804T>G (p.Phe935Cys)
c.597T>G
c.106T>G
c.2645T>G (p.Phe882Cys)
n.396T>G
c.2615T>G (p.Phe872Cys)
c.2030T>G (p.Phe677Cys)
c.2741T>G (p.Phe914Cys)
c.1967T>G (p.Phe656Cys)
c.1934T>G (p.Phe645Cys)
n.2968T>G
c.2147T>G (p.Phe716Cys)
n.2962T>G
Xg.53247073A>GCA413156017IQSEC2c.2804T>C (p.Phe935Ser)
c.597T>C
c.106T>C
c.2645T>C (p.Phe882Ser)
n.396T>C
c.2615T>C (p.Phe872Ser)
c.2030T>C (p.Phe677Ser)
c.2741T>C (p.Phe914Ser)
c.1967T>C (p.Phe656Ser)
c.1934T>C (p.Phe645Ser)
n.2968T>C
c.2147T>C (p.Phe716Ser)
n.2962T>C
Xg.53247073A>TCA413156020IQSEC2c.2804T>A (p.Phe935Tyr)
c.597T>A
c.106T>A
c.2645T>A (p.Phe882Tyr)
n.396T>A
c.2615T>A (p.Phe872Tyr)
c.2030T>A (p.Phe677Tyr)
c.2741T>A (p.Phe914Tyr)
c.1967T>A (p.Phe656Tyr)
c.1934T>A (p.Phe645Tyr)
n.2968T>A
c.2147T>A (p.Phe716Tyr)
n.2962T>A
Xg.53247074dupCA915951128IQSEC2c.2804dup (p.Ile936HisfsTer21)
c.597dup
c.106dup
c.2645dup (p.Ile883HisfsTer21)
n.396dup
c.2615dup (p.Ile873HisfsTer21)
c.2030dup (p.Ile678HisfsTer21)
c.2741dup (p.Ile915HisfsTer21)
c.1967dup (p.Ile657HisfsTer21)
c.1934dup (p.Ile646HisfsTer21)
n.2968dup
c.2147dup (p.Ile717HisfsTer21)
n.2962dup
 ClinVar dbSNP
Xg.53247074A>CCA413156027IQSEC2c.2803T>G (p.Phe935Val)
c.596T>G
c.105T>G
c.2644T>G (p.Phe882Val)
n.395T>G
c.2614T>G (p.Phe872Val)
c.2029T>G (p.Phe677Val)
c.2740T>G (p.Phe914Val)
c.1966T>G (p.Phe656Val)
c.1933T>G (p.Phe645Val)
n.2967T>G
c.2146T>G (p.Phe716Val)
n.2961T>G
Xg.53247074A>GCA413156030IQSEC2c.2803T>C (p.Phe935Leu)
c.596T>C
c.105T>C
c.2644T>C (p.Phe882Leu)
n.395T>C
c.2614T>C (p.Phe872Leu)
c.2029T>C (p.Phe677Leu)
c.2740T>C (p.Phe914Leu)
c.1966T>C (p.Phe656Leu)
c.1933T>C (p.Phe645Leu)
n.2967T>C
c.2146T>C (p.Phe716Leu)
n.2961T>C
Xg.53247074A>TCA413156037IQSEC2c.2803T>A (p.Phe935Ile)
c.596T>A
c.105T>A
c.2644T>A (p.Phe882Ile)
n.395T>A
c.2614T>A (p.Phe872Ile)
c.2029T>A (p.Phe677Ile)
c.2740T>A (p.Phe914Ile)
c.1966T>A (p.Phe656Ile)
c.1933T>A (p.Phe645Ile)
n.2967T>A
c.2146T>A (p.Phe716Ile)
n.2961T>A
Xg.53247075G>ACA516427478IQSEC2c.2802C>T (p.Ile934=)
c.595C>T
c.104C>T
c.2643C>T (p.Ile881=)
n.394C>T
c.2613C>T (p.Ile871=)
c.2028C>T (p.Ile676=)
c.2739C>T (p.Ile913=)
c.1965C>T (p.Ile655=)
c.1932C>T (p.Ile644=)
n.2966C>T
c.2145C>T (p.Ile715=)
n.2960C>T
Xg.53247075G>CCA413156039IQSEC2c.2802C>G (p.Ile934Met)
c.595C>G
c.104C>G
c.2643C>G (p.Ile881Met)
n.394C>G
c.2613C>G (p.Ile871Met)
c.2028C>G (p.Ile676Met)
c.2739C>G (p.Ile913Met)
c.1965C>G (p.Ile655Met)
c.1932C>G (p.Ile644Met)
n.2966C>G
c.2145C>G (p.Ile715Met)
n.2960C>G
Xg.53247075G>TCA516427481IQSEC2c.2802C>A (p.Ile934=)
c.595C>A
c.104C>A
c.2643C>A (p.Ile881=)
n.394C>A
c.2613C>A (p.Ile871=)
c.2028C>A (p.Ile676=)
c.2739C>A (p.Ile913=)
c.1965C>A (p.Ile655=)
c.1932C>A (p.Ile644=)
n.2966C>A
c.2145C>A (p.Ile715=)
n.2960C>A
Xg.53247076A>CCA413156044IQSEC2c.2801T>G (p.Ile934Ser)
c.594T>G
c.103T>G
c.2642T>G (p.Ile881Ser)
n.393T>G
c.2612T>G (p.Ile871Ser)
c.2027T>G (p.Ile676Ser)
c.2738T>G (p.Ile913Ser)
c.1964T>G (p.Ile655Ser)
c.1931T>G (p.Ile644Ser)
n.2965T>G
c.2144T>G (p.Ile715Ser)
n.2959T>G
Xg.53247076A>GCA413156048IQSEC2c.2801T>C (p.Ile934Thr)
c.594T>C
c.103T>C
c.2642T>C (p.Ile881Thr)
n.393T>C
c.2612T>C (p.Ile871Thr)
c.2027T>C (p.Ile676Thr)
c.2738T>C (p.Ile913Thr)
c.1964T>C (p.Ile655Thr)
c.1931T>C (p.Ile644Thr)
n.2965T>C
c.2144T>C (p.Ile715Thr)
n.2959T>C
Xg.53247076A>TCA413156052IQSEC2c.2801T>A (p.Ile934Asn)
c.594T>A
c.103T>A
c.2642T>A (p.Ile881Asn)
n.393T>A
c.2612T>A (p.Ile871Asn)
c.2027T>A (p.Ile676Asn)
c.2738T>A (p.Ile913Asn)
c.1964T>A (p.Ile655Asn)
c.1931T>A (p.Ile644Asn)
n.2965T>A
c.2144T>A (p.Ile715Asn)
n.2959T>A
Xg.53247077T>ACA413156066IQSEC2c.2800A>T (p.Ile934Phe)
c.593A>T
c.102A>T
c.2641A>T (p.Ile881Phe)
n.392A>T
c.2611A>T (p.Ile871Phe)
c.2026A>T (p.Ile676Phe)
c.2737A>T (p.Ile913Phe)
c.1963A>T (p.Ile655Phe)
c.1930A>T (p.Ile644Phe)
n.2964A>T
c.2143A>T (p.Ile715Phe)
n.2958A>T
Xg.53247077T>CCA413156063IQSEC2c.2800A>G (p.Ile934Val)
c.593A>G
c.102A>G
c.2641A>G (p.Ile881Val)
n.392A>G
c.2611A>G (p.Ile871Val)
c.2026A>G (p.Ile676Val)
c.2737A>G (p.Ile913Val)
c.1963A>G (p.Ile655Val)
c.1930A>G (p.Ile644Val)
n.2964A>G
c.2143A>G (p.Ile715Val)
n.2958A>G
Xg.53247077T>GCA413156060IQSEC2c.2800A>C (p.Ile934Leu)
c.593A>C
c.102A>C
c.2641A>C (p.Ile881Leu)
n.392A>C
c.2611A>C (p.Ile871Leu)
c.2026A>C (p.Ile676Leu)
c.2737A>C (p.Ile913Leu)
c.1963A>C (p.Ile655Leu)
c.1930A>C (p.Ile644Leu)
n.2964A>C
c.2143A>C (p.Ile715Leu)
n.2958A>C
Xg.53247078G>ACA516427491IQSEC2c.2799C>T (p.Thr933=)
c.592C>T
c.101C>T
c.2640C>T (p.Thr880=)
n.391C>T
c.2610C>T (p.Thr870=)
c.2025C>T (p.Thr675=)
c.2736C>T (p.Thr912=)
c.1962C>T (p.Thr654=)
c.1929C>T (p.Thr643=)
n.2963C>T
c.2142C>T (p.Thr714=)
n.2957C>T
 gnomAD v4
Xg.53247078G>CCA516427493IQSEC2c.2799C>G (p.Thr933=)
c.592C>G
c.101C>G
c.2640C>G (p.Thr880=)
n.391C>G
c.2610C>G (p.Thr870=)
c.2025C>G (p.Thr675=)
c.2736C>G (p.Thr912=)
c.1962C>G (p.Thr654=)
c.1929C>G (p.Thr643=)
n.2963C>G
c.2142C>G (p.Thr714=)
n.2957C>G
Xg.53247078G>TCA516427495IQSEC2c.2799C>A (p.Thr933=)
c.592C>A
c.101C>A
c.2640C>A (p.Thr880=)
n.391C>A
c.2610C>A (p.Thr870=)
c.2025C>A (p.Thr675=)
c.2736C>A (p.Thr912=)
c.1962C>A (p.Thr654=)
c.1929C>A (p.Thr643=)
n.2963C>A
c.2142C>A (p.Thr714=)
n.2957C>A
Xg.53247079G>ACA413156071IQSEC2c.2798C>T (p.Thr933Ile)
c.591C>T
c.100C>T
c.2639C>T (p.Thr880Ile)
n.390C>T
c.2609C>T (p.Thr870Ile)
c.2024C>T (p.Thr675Ile)
c.2735C>T (p.Thr912Ile)
c.1961C>T (p.Thr654Ile)
c.1928C>T (p.Thr643Ile)
n.2962C>T
c.2141C>T (p.Thr714Ile)
n.2956C>T
Xg.53247079G>CCA413156074IQSEC2c.2798C>G (p.Thr933Ser)
c.591C>G
c.100C>G
c.2639C>G (p.Thr880Ser)
n.390C>G
c.2609C>G (p.Thr870Ser)
c.2024C>G (p.Thr675Ser)
c.2735C>G (p.Thr912Ser)
c.1961C>G (p.Thr654Ser)
c.1928C>G (p.Thr643Ser)
n.2962C>G
c.2141C>G (p.Thr714Ser)
n.2956C>G
Xg.53247079G>TCA413156077IQSEC2c.2798C>A (p.Thr933Asn)
c.591C>A
c.100C>A
c.2639C>A (p.Thr880Asn)
n.390C>A
c.2609C>A (p.Thr870Asn)
c.2024C>A (p.Thr675Asn)
c.2735C>A (p.Thr912Asn)
c.1961C>A (p.Thr654Asn)
c.1928C>A (p.Thr643Asn)
n.2962C>A
c.2141C>A (p.Thr714Asn)
n.2956C>A
Xg.53247080T>ACA413156084IQSEC2c.2797A>T (p.Thr933Ser)
c.590A>T
c.99A>T
c.2638A>T (p.Thr880Ser)
n.389A>T
c.2608A>T (p.Thr870Ser)
c.2023A>T (p.Thr675Ser)
c.2734A>T (p.Thr912Ser)
c.1960A>T (p.Thr654Ser)
c.1927A>T (p.Thr643Ser)
n.2961A>T
c.2140A>T (p.Thr714Ser)
n.2955A>T
Xg.53247080T>CCA413156086IQSEC2c.2797A>G (p.Thr933Ala)
c.590A>G
c.99A>G
c.2638A>G (p.Thr880Ala)
n.389A>G
c.2608A>G (p.Thr870Ala)
c.2023A>G (p.Thr675Ala)
c.2734A>G (p.Thr912Ala)
c.1960A>G (p.Thr654Ala)
c.1927A>G (p.Thr643Ala)
n.2961A>G
c.2140A>G (p.Thr714Ala)
n.2955A>G
Xg.53247080T>GCA413156092IQSEC2c.2797A>C (p.Thr933Pro)
c.590A>C
c.99A>C
c.2638A>C (p.Thr880Pro)
n.389A>C
c.2608A>C (p.Thr870Pro)
c.2023A>C (p.Thr675Pro)
c.2734A>C (p.Thr912Pro)
c.1960A>C (p.Thr654Pro)
c.1927A>C (p.Thr643Pro)
n.2961A>C
c.2140A>C (p.Thr714Pro)
n.2955A>C
Xg.53247081G>ACA516427510IQSEC2c.2796C>T (p.Asp932=)
c.589C>T
c.98C>T
c.2637C>T (p.Asp879=)
n.388C>T
c.2607C>T (p.Asp869=)
c.2022C>T (p.Asp674=)
c.2733C>T (p.Asp911=)
c.1959C>T (p.Asp653=)
c.1926C>T (p.Asp642=)
n.2960C>T
c.2139C>T (p.Asp713=)
n.2954C>T
Xg.53247081G>CCA413156116IQSEC2c.2796C>G (p.Asp932Glu)
c.589C>G
c.98C>G
c.2637C>G (p.Asp879Glu)
n.388C>G
c.2607C>G (p.Asp869Glu)
c.2022C>G (p.Asp674Glu)
c.2733C>G (p.Asp911Glu)
c.1959C>G (p.Asp653Glu)
c.1926C>G (p.Asp642Glu)
n.2960C>G
c.2139C>G (p.Asp713Glu)
n.2954C>G
Xg.53247081G>TCA413156097IQSEC2c.2796C>A (p.Asp932Glu)
c.589C>A
c.98C>A
c.2637C>A (p.Asp879Glu)
n.388C>A
c.2607C>A (p.Asp869Glu)
c.2022C>A (p.Asp674Glu)
c.2733C>A (p.Asp911Glu)
c.1959C>A (p.Asp653Glu)
c.1926C>A (p.Asp642Glu)
n.2960C>A
c.2139C>A (p.Asp713Glu)
n.2954C>A
Xg.53247082T>ACA413156120IQSEC2c.2795A>T (p.Asp932Val)
c.588A>T
c.97A>T
c.2636A>T (p.Asp879Val)
n.387A>T
c.2606A>T (p.Asp869Val)
c.2021A>T (p.Asp674Val)
c.2732A>T (p.Asp911Val)
c.1958A>T (p.Asp653Val)
c.1925A>T (p.Asp642Val)
n.2959A>T
c.2138A>T (p.Asp713Val)
n.2953A>T
Xg.53247082T>CCA413156124IQSEC2c.2795A>G (p.Asp932Gly)
c.588A>G
c.97A>G
c.2636A>G (p.Asp879Gly)
n.387A>G
c.2606A>G (p.Asp869Gly)
c.2021A>G (p.Asp674Gly)
c.2732A>G (p.Asp911Gly)
c.1958A>G (p.Asp653Gly)
c.1925A>G (p.Asp642Gly)
n.2959A>G
c.2138A>G (p.Asp713Gly)
n.2953A>G
Xg.53247082T>GCA413156127IQSEC2c.2795A>C (p.Asp932Ala)
c.588A>C
c.97A>C
c.2636A>C (p.Asp879Ala)
n.387A>C
c.2606A>C (p.Asp869Ala)
c.2021A>C (p.Asp674Ala)
c.2732A>C (p.Asp911Ala)
c.1958A>C (p.Asp653Ala)
c.1925A>C (p.Asp642Ala)
n.2959A>C
c.2138A>C (p.Asp713Ala)
n.2953A>C
Xg.53247083C>ACA413156140IQSEC2c.2794G>T (p.Asp932Tyr)
c.587G>T
c.96G>T
c.2635G>T (p.Asp879Tyr)
n.386G>T
c.2605G>T (p.Asp869Tyr)
c.2020G>T (p.Asp674Tyr)
c.2731G>T (p.Asp911Tyr)
c.1957G>T (p.Asp653Tyr)
c.1924G>T (p.Asp642Tyr)
n.2958G>T
c.2137G>T (p.Asp713Tyr)
n.2952G>T
Xg.53247083C>GCA413156144IQSEC2c.2794G>C (p.Asp932His)
c.587G>C
c.96G>C
c.2635G>C (p.Asp879His)
n.386G>C
c.2605G>C (p.Asp869His)
c.2020G>C (p.Asp674His)
c.2731G>C (p.Asp911His)
c.1957G>C (p.Asp653His)
c.1924G>C (p.Asp642His)
n.2958G>C
c.2137G>C (p.Asp713His)
n.2952G>C
Xg.53247083C>TCA413156149IQSEC2c.2794G>A (p.Asp932Asn)
c.587G>A
c.96G>A
c.2635G>A (p.Asp879Asn)
n.386G>A
c.2605G>A (p.Asp869Asn)
c.2020G>A (p.Asp674Asn)
c.2731G>A (p.Asp911Asn)
c.1957G>A (p.Asp653Asn)
c.1924G>A (p.Asp642Asn)
n.2958G>A
c.2137G>A (p.Asp713Asn)
n.2952G>A
Xg.53247084T>ACA516427515IQSEC2c.2793A>T (p.Pro931=)
c.586A>T
c.95A>T
c.2634A>T (p.Pro878=)
n.385A>T
c.2604A>T (p.Pro868=)
c.2019A>T (p.Pro673=)
c.2730A>T (p.Pro910=)
c.1956A>T (p.Pro652=)
c.1923A>T (p.Pro641=)
n.2957A>T
c.2136A>T (p.Pro712=)
n.2951A>T
Xg.53247084T>CCA516427516IQSEC2c.2793A>G (p.Pro931=)
c.586A>G
c.95A>G
c.2634A>G (p.Pro878=)
n.385A>G
c.2604A>G (p.Pro868=)
c.2019A>G (p.Pro673=)
c.2730A>G (p.Pro910=)
c.1956A>G (p.Pro652=)
c.1923A>G (p.Pro641=)
n.2957A>G
c.2136A>G (p.Pro712=)
n.2951A>G
Xg.53247084T>GCA516427517IQSEC2c.2793A>C (p.Pro931=)
c.586A>C
c.95A>C
c.2634A>C (p.Pro878=)
n.385A>C
c.2604A>C (p.Pro868=)
c.2019A>C (p.Pro673=)
c.2730A>C (p.Pro910=)
c.1956A>C (p.Pro652=)
c.1923A>C (p.Pro641=)
n.2957A>C
c.2136A>C (p.Pro712=)
n.2951A>C
Xg.53247085G>ACA413156152IQSEC2c.2792C>T (p.Pro931Leu)
c.585C>T
c.94C>T
c.2633C>T (p.Pro878Leu)
n.384C>T
c.2603C>T (p.Pro868Leu)
c.2018C>T (p.Pro673Leu)
c.2729C>T (p.Pro910Leu)
c.1955C>T (p.Pro652Leu)
c.1922C>T (p.Pro641Leu)
n.2956C>T
c.2135C>T (p.Pro712Leu)
n.2950C>T
Xg.53247085G>CCA413156162IQSEC2c.2792C>G (p.Pro931Arg)
c.585C>G
c.94C>G
c.2633C>G (p.Pro878Arg)
n.384C>G
c.2603C>G (p.Pro868Arg)
c.2018C>G (p.Pro673Arg)
c.2729C>G (p.Pro910Arg)
c.1955C>G (p.Pro652Arg)
c.1922C>G (p.Pro641Arg)
n.2956C>G
c.2135C>G (p.Pro712Arg)
n.2950C>G
Xg.53247085G>TCA413156160IQSEC2c.2792C>A (p.Pro931Gln)
c.585C>A
c.94C>A
c.2633C>A (p.Pro878Gln)
n.384C>A
c.2603C>A (p.Pro868Gln)
c.2018C>A (p.Pro673Gln)
c.2729C>A (p.Pro910Gln)
c.1955C>A (p.Pro652Gln)
c.1922C>A (p.Pro641Gln)
n.2956C>A
c.2135C>A (p.Pro712Gln)
n.2950C>A
Xg.53247086G>ACA413156168IQSEC2c.2791C>T (p.Pro931Ser)
c.584C>T
c.93C>T
c.2632C>T (p.Pro878Ser)
n.383C>T
c.2602C>T (p.Pro868Ser)
c.2017C>T (p.Pro673Ser)
c.2728C>T (p.Pro910Ser)
c.1954C>T (p.Pro652Ser)
c.1921C>T (p.Pro641Ser)
n.2955C>T
c.2134C>T (p.Pro712Ser)
n.2949C>T
Xg.53247086G>CCA413156172IQSEC2c.2791C>G (p.Pro931Ala)
c.584C>G
c.93C>G
c.2632C>G (p.Pro878Ala)
n.383C>G
c.2602C>G (p.Pro868Ala)
c.2017C>G (p.Pro673Ala)
c.2728C>G (p.Pro910Ala)
c.1954C>G (p.Pro652Ala)
c.1921C>G (p.Pro641Ala)
n.2955C>G
c.2134C>G (p.Pro712Ala)
n.2949C>G
Xg.53247086G>TCA413156175IQSEC2c.2791C>A (p.Pro931Thr)
c.584C>A
c.93C>A
c.2632C>A (p.Pro878Thr)
n.383C>A
c.2602C>A (p.Pro868Thr)
c.2017C>A (p.Pro673Thr)
c.2728C>A (p.Pro910Thr)
c.1954C>A (p.Pro652Thr)
c.1921C>A (p.Pro641Thr)
n.2955C>A
c.2134C>A (p.Pro712Thr)
n.2949C>A
Xg.53247087G>ACA516427524IQSEC2c.2790C>T (p.Asn930=)
c.583C>T
c.92C>T
c.2631C>T (p.Asn877=)
n.382C>T
c.2601C>T (p.Asn867=)
c.2016C>T (p.Asn672=)
c.2727C>T (p.Asn909=)
c.1953C>T (p.Asn651=)
c.1920C>T (p.Asn640=)
n.2954C>T
c.2133C>T (p.Asn711=)
n.2948C>T
 ClinVar
Xg.53247087G>CCA413156179IQSEC2c.2790C>G (p.Asn930Lys)
c.583C>G
c.92C>G
c.2631C>G (p.Asn877Lys)
n.382C>G
c.2601C>G (p.Asn867Lys)
c.2016C>G (p.Asn672Lys)
c.2727C>G (p.Asn909Lys)
c.1953C>G (p.Asn651Lys)
c.1920C>G (p.Asn640Lys)
n.2954C>G
c.2133C>G (p.Asn711Lys)
n.2948C>G
Xg.53247087G>TCA413156182IQSEC2c.2790C>A (p.Asn930Lys)
c.583C>A
c.92C>A
c.2631C>A (p.Asn877Lys)
n.382C>A
c.2601C>A (p.Asn867Lys)
c.2016C>A (p.Asn672Lys)
c.2727C>A (p.Asn909Lys)
c.1953C>A (p.Asn651Lys)
c.1920C>A (p.Asn640Lys)
n.2954C>A
c.2133C>A (p.Asn711Lys)
n.2948C>A
Xg.53247088T>ACA413156186IQSEC2c.2789A>T (p.Asn930Ile)
c.582A>T
c.91A>T
c.2630A>T (p.Asn877Ile)
n.381A>T
c.2600A>T (p.Asn867Ile)
c.2015A>T (p.Asn672Ile)
c.2726A>T (p.Asn909Ile)
c.1952A>T (p.Asn651Ile)
c.1919A>T (p.Asn640Ile)
n.2953A>T
c.2132A>T (p.Asn711Ile)
n.2947A>T
Xg.53247088T>CCA413156188IQSEC2c.2789A>G (p.Asn930Ser)
c.582A>G
c.91A>G
c.2630A>G (p.Asn877Ser)
n.381A>G
c.2600A>G (p.Asn867Ser)
c.2015A>G (p.Asn672Ser)
c.2726A>G (p.Asn909Ser)
c.1952A>G (p.Asn651Ser)
c.1919A>G (p.Asn640Ser)
n.2953A>G
c.2132A>G (p.Asn711Ser)
n.2947A>G
Xg.53247088T>GCA413156202IQSEC2c.2789A>C (p.Asn930Thr)
c.582A>C
c.91A>C
c.2630A>C (p.Asn877Thr)
n.381A>C
c.2600A>C (p.Asn867Thr)
c.2015A>C (p.Asn672Thr)
c.2726A>C (p.Asn909Thr)
c.1952A>C (p.Asn651Thr)
c.1919A>C (p.Asn640Thr)
n.2953A>C
c.2132A>C (p.Asn711Thr)
n.2947A>C
Xg.53247089T>ACA413156207IQSEC2c.2788A>T (p.Asn930Tyr)
c.581A>T
c.90A>T
c.2629A>T (p.Asn877Tyr)
n.380A>T
c.2599A>T (p.Asn867Tyr)
c.2014A>T (p.Asn672Tyr)
c.2725A>T (p.Asn909Tyr)
c.1951A>T (p.Asn651Tyr)
c.1918A>T (p.Asn640Tyr)
n.2952A>T
c.2131A>T (p.Asn711Tyr)
n.2946A>T
Xg.53247089T>CCA413156209IQSEC2c.2788A>G (p.Asn930Asp)
c.581A>G
c.90A>G
c.2629A>G (p.Asn877Asp)
n.380A>G
c.2599A>G (p.Asn867Asp)
c.2014A>G (p.Asn672Asp)
c.2725A>G (p.Asn909Asp)
c.1951A>G (p.Asn651Asp)
c.1918A>G (p.Asn640Asp)
n.2952A>G
c.2131A>G (p.Asn711Asp)
n.2946A>G
Xg.53247089T>GCA413156216IQSEC2c.2788A>C (p.Asn930His)
c.581A>C
c.90A>C
c.2629A>C (p.Asn877His)
n.380A>C
c.2599A>C (p.Asn867His)
c.2014A>C (p.Asn672His)
c.2725A>C (p.Asn909His)
c.1951A>C (p.Asn651His)
c.1918A>C (p.Asn640His)
n.2952A>C
c.2131A>C (p.Asn711His)
n.2946A>C
Xg.53247090C>ACA516427534IQSEC2c.2787G>T (p.Arg929=)
c.580G>T
c.89G>T
c.2628G>T (p.Arg876=)
n.379G>T
c.2598G>T (p.Arg866=)
c.2013G>T (p.Arg671=)
c.2724G>T (p.Arg908=)
c.1950G>T (p.Arg650=)
c.1917G>T (p.Arg639=)
n.2951G>T
c.2130G>T (p.Arg710=)
n.2945G>T
 COSMIC COSMIC COSMIC
Xg.53247090C>GCA516427529IQSEC2c.2787G>C (p.Arg929=)
c.580G>C
c.89G>C
c.2628G>C (p.Arg876=)
n.379G>C
c.2598G>C (p.Arg866=)
c.2013G>C (p.Arg671=)
c.2724G>C (p.Arg908=)
c.1950G>C (p.Arg650=)
c.1917G>C (p.Arg639=)
n.2951G>C
c.2130G>C (p.Arg710=)
n.2945G>C
Xg.53247090C>TCA516427528IQSEC2c.2787G>A (p.Arg929=)
c.580G>A
c.89G>A
c.2628G>A (p.Arg876=)
n.379G>A
c.2598G>A (p.Arg866=)
c.2013G>A (p.Arg671=)
c.2724G>A (p.Arg908=)
c.1950G>A (p.Arg650=)
c.1917G>A (p.Arg639=)
n.2951G>A
c.2130G>A (p.Arg710=)
n.2945G>A
Xg.53247091C>ACA413156230IQSEC2c.2786G>T (p.Arg929Leu)
c.579G>T
c.88G>T
c.2627G>T (p.Arg876Leu)
n.378G>T
c.2597G>T (p.Arg866Leu)
c.2012G>T (p.Arg671Leu)
c.2723G>T (p.Arg908Leu)
c.1949G>T (p.Arg650Leu)
c.1916G>T (p.Arg639Leu)
n.2950G>T
c.2129G>T (p.Arg710Leu)
n.2944G>T
Xg.53247091C=CA2429774606IQSEC2c.2786G= (p.Arg929=)
c.579G=
c.88G=
c.2627G= (p.Arg876=)
n.378G=
c.2597G= (p.Arg866=)
c.2012G= (p.Arg671=)
c.2723G= (p.Arg908=)
c.1949G= (p.Arg650=)
c.1916G= (p.Arg639=)
n.2950G=
c.2129G= (p.Arg710=)
n.2944G=
Xg.53247091C>GCA413156237IQSEC2c.2786G>C (p.Arg929Pro)
c.579G>C
c.88G>C
c.2627G>C (p.Arg876Pro)
n.378G>C
c.2597G>C (p.Arg866Pro)
c.2012G>C (p.Arg671Pro)
c.2723G>C (p.Arg908Pro)
c.1949G>C (p.Arg650Pro)
c.1916G>C (p.Arg639Pro)
n.2950G>C
c.2129G>C (p.Arg710Pro)
n.2944G>C
Xg.53247091C>TCA329165252IQSEC2c.2786G>A (p.Arg929Gln)
c.579G>A
c.88G>A
c.2627G>A (p.Arg876Gln)
n.378G>A
c.2597G>A (p.Arg866Gln)
c.2012G>A (p.Arg671Gln)
c.2723G>A (p.Arg908Gln)
c.1949G>A (p.Arg650Gln)
c.1916G>A (p.Arg639Gln)
n.2950G>A
c.2129G>A (p.Arg710Gln)
n.2944G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53247092G>ACA413156242IQSEC2c.2785C>T (p.Arg929Trp)
c.578C>T
c.87C>T
c.2626C>T (p.Arg876Trp)
n.377C>T
c.2596C>T (p.Arg866Trp)
c.2011C>T (p.Arg671Trp)
c.2722C>T (p.Arg908Trp)
c.1948C>T (p.Arg650Trp)
c.1915C>T (p.Arg639Trp)
n.2949C>T
c.2128C>T (p.Arg710Trp)
n.2943C>T
 dbSNP gnomAD v4
Xg.53247092G>CCA413156247IQSEC2c.2785C>G (p.Arg929Gly)
c.578C>G
c.87C>G
c.2626C>G (p.Arg876Gly)
n.377C>G
c.2596C>G (p.Arg866Gly)
c.2011C>G (p.Arg671Gly)
c.2722C>G (p.Arg908Gly)
c.1948C>G (p.Arg650Gly)
c.1915C>G (p.Arg639Gly)
n.2949C>G
c.2128C>G (p.Arg710Gly)
n.2943C>G
Xg.53247092G=CA2429774607IQSEC2c.2785C= (p.Arg929=)
c.578C=
c.87C=
c.2626C= (p.Arg876=)
n.377C=
c.2596C= (p.Arg866=)
c.2011C= (p.Arg671=)
c.2722C= (p.Arg908=)
c.1948C= (p.Arg650=)
c.1915C= (p.Arg639=)
n.2949C=
c.2128C= (p.Arg710=)
n.2943C=
Xg.53247092G>TCA516427539IQSEC2c.2785C>A (p.Arg929=)
c.578C>A
c.87C>A
c.2626C>A (p.Arg876=)
n.377C>A
c.2596C>A (p.Arg866=)
c.2011C>A (p.Arg671=)
c.2722C>A (p.Arg908=)
c.1948C>A (p.Arg650=)
c.1915C>A (p.Arg639=)
n.2949C>A
c.2128C>A (p.Arg710=)
n.2943C>A
Xg.53247093G>ACA10419900IQSEC2c.2784C>T (p.Phe928=)
c.577C>T
c.86C>T
c.2625C>T (p.Phe875=)
n.376C>T
c.2595C>T (p.Phe865=)
c.2010C>T (p.Phe670=)
c.2721C>T (p.Phe907=)
c.1947C>T (p.Phe649=)
c.1914C>T (p.Phe638=)
n.2948C>T
c.2127C>T (p.Phe709=)
n.2942C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53247093G>CCA413156256IQSEC2c.2784C>G (p.Phe928Leu)
c.577C>G
c.86C>G
c.2625C>G (p.Phe875Leu)
n.376C>G
c.2595C>G (p.Phe865Leu)
c.2010C>G (p.Phe670Leu)
c.2721C>G (p.Phe907Leu)
c.1947C>G (p.Phe649Leu)
c.1914C>G (p.Phe638Leu)
n.2948C>G
c.2127C>G (p.Phe709Leu)
n.2942C>G
Xg.53247093G=CA2429774608IQSEC2c.2784C= (p.Phe928=)
c.577C=
c.86C=
c.2625C= (p.Phe875=)
n.376C=
c.2595C= (p.Phe865=)
c.2010C= (p.Phe670=)
c.2721C= (p.Phe907=)
c.1947C= (p.Phe649=)
c.1914C= (p.Phe638=)
n.2948C=
c.2127C= (p.Phe709=)
n.2942C=
Xg.53247093G>TCA413156265IQSEC2c.2784C>A (p.Phe928Leu)
c.577C>A
c.86C>A
c.2625C>A (p.Phe875Leu)
n.376C>A
c.2595C>A (p.Phe865Leu)
c.2010C>A (p.Phe670Leu)
c.2721C>A (p.Phe907Leu)
c.1947C>A (p.Phe649Leu)
c.1914C>A (p.Phe638Leu)
n.2948C>A
c.2127C>A (p.Phe709Leu)
n.2942C>A
 gnomAD v4
Xg.53247094A>CCA413156271IQSEC2c.2783T>G (p.Phe928Cys)
c.576T>G
c.85T>G
c.2624T>G (p.Phe875Cys)
n.375T>G
c.2594T>G (p.Phe865Cys)
c.2009T>G (p.Phe670Cys)
c.2720T>G (p.Phe907Cys)
c.1946T>G (p.Phe649Cys)
c.1913T>G (p.Phe638Cys)
n.2947T>G
c.2126T>G (p.Phe709Cys)
n.2941T>G
Xg.53247094A>GCA413156273IQSEC2c.2783T>C (p.Phe928Ser)
c.576T>C
c.85T>C
c.2624T>C (p.Phe875Ser)
n.375T>C
c.2594T>C (p.Phe865Ser)
c.2009T>C (p.Phe670Ser)
c.2720T>C (p.Phe907Ser)
c.1946T>C (p.Phe649Ser)
c.1913T>C (p.Phe638Ser)
n.2947T>C
c.2126T>C (p.Phe709Ser)
n.2941T>C
Xg.53247094A>TCA413156275IQSEC2c.2783T>A (p.Phe928Tyr)
c.576T>A
c.85T>A
c.2624T>A (p.Phe875Tyr)
n.375T>A
c.2594T>A (p.Phe865Tyr)
c.2009T>A (p.Phe670Tyr)
c.2720T>A (p.Phe907Tyr)
c.1946T>A (p.Phe649Tyr)
c.1913T>A (p.Phe638Tyr)
n.2947T>A
c.2126T>A (p.Phe709Tyr)
n.2941T>A
Xg.53247095A>CCA413156279IQSEC2c.2782T>G (p.Phe928Val)
c.575T>G
c.84T>G
c.2623T>G (p.Phe875Val)
n.374T>G
c.2593T>G (p.Phe865Val)
c.2008T>G (p.Phe670Val)
c.2719T>G (p.Phe907Val)
c.1945T>G (p.Phe649Val)
c.1912T>G (p.Phe638Val)
n.2946T>G
c.2125T>G (p.Phe709Val)
n.2940T>G
Xg.53247095A>GCA413156290IQSEC2c.2782T>C (p.Phe928Leu)
c.575T>C
c.84T>C
c.2623T>C (p.Phe875Leu)
n.374T>C
c.2593T>C (p.Phe865Leu)
c.2008T>C (p.Phe670Leu)
c.2719T>C (p.Phe907Leu)
c.1945T>C (p.Phe649Leu)
c.1912T>C (p.Phe638Leu)
n.2946T>C
c.2125T>C (p.Phe709Leu)
n.2940T>C
Xg.53247095A>TCA413156287IQSEC2c.2782T>A (p.Phe928Ile)
c.575T>A
c.84T>A
c.2623T>A (p.Phe875Ile)
n.374T>A
c.2593T>A (p.Phe865Ile)
c.2008T>A (p.Phe670Ile)
c.2719T>A (p.Phe907Ile)
c.1945T>A (p.Phe649Ile)
c.1912T>A (p.Phe638Ile)
n.2946T>A
c.2125T>A (p.Phe709Ile)
n.2940T>A
Xg.53247096C>ACA413156295IQSEC2c.2781G>T (p.Gln927His)
c.574G>T
c.83G>T
c.2622G>T (p.Gln874His)
n.373G>T
c.2592G>T (p.Gln864His)
c.2007G>T (p.Gln669His)
c.2718G>T (p.Gln906His)
c.1944G>T (p.Gln648His)
c.1911G>T (p.Gln637His)
n.2945G>T
c.2124G>T (p.Gln708His)
n.2939G>T
Xg.53247096C>GCA413156296IQSEC2c.2781G>C (p.Gln927His)
c.574G>C
c.83G>C
c.2622G>C (p.Gln874His)
n.373G>C
c.2592G>C (p.Gln864His)
c.2007G>C (p.Gln669His)
c.2718G>C (p.Gln906His)
c.1944G>C (p.Gln648His)
c.1911G>C (p.Gln637His)
n.2945G>C
c.2124G>C (p.Gln708His)
n.2939G>C
Xg.53247096C>TCA516427556IQSEC2c.2781G>A (p.Gln927=)
c.574G>A
c.83G>A
c.2622G>A (p.Gln874=)
n.373G>A
c.2592G>A (p.Gln864=)
c.2007G>A (p.Gln669=)
c.2718G>A (p.Gln906=)
c.1944G>A (p.Gln648=)
c.1911G>A (p.Gln637=)
n.2945G>A
c.2124G>A (p.Gln708=)
n.2939G>A
Xg.53247097T>ACA413156297IQSEC2c.2780A>T (p.Gln927Leu)
c.573A>T
c.82A>T
c.2621A>T (p.Gln874Leu)
n.372A>T
c.2591A>T (p.Gln864Leu)
c.2006A>T (p.Gln669Leu)
c.2717A>T (p.Gln906Leu)
c.1943A>T (p.Gln648Leu)
c.1910A>T (p.Gln637Leu)
n.2944A>T
c.2123A>T (p.Gln708Leu)
n.2938A>T
Xg.53247097T>CCA413156298IQSEC2c.2780A>G (p.Gln927Arg)
c.573A>G
c.82A>G
c.2621A>G (p.Gln874Arg)
n.372A>G
c.2591A>G (p.Gln864Arg)
c.2006A>G (p.Gln669Arg)
c.2717A>G (p.Gln906Arg)
c.1943A>G (p.Gln648Arg)
c.1910A>G (p.Gln637Arg)
n.2944A>G
c.2123A>G (p.Gln708Arg)
n.2938A>G
 ClinVar dbSNP gnomAD v4
Xg.53247097T>GCA413156301IQSEC2c.2780A>C (p.Gln927Pro)
c.573A>C
c.82A>C
c.2621A>C (p.Gln874Pro)
n.372A>C
c.2591A>C (p.Gln864Pro)
c.2006A>C (p.Gln669Pro)
c.2717A>C (p.Gln906Pro)
c.1943A>C (p.Gln648Pro)
c.1910A>C (p.Gln637Pro)
n.2944A>C
c.2123A>C (p.Gln708Pro)
n.2938A>C
Xg.53247097T=CA2429774609IQSEC2c.2780A= (p.Gln927=)
c.573A=
c.82A=
c.2621A= (p.Gln874=)
n.372A=
c.2591A= (p.Gln864=)
c.2006A= (p.Gln669=)
c.2717A= (p.Gln906=)
c.1943A= (p.Gln648=)
c.1910A= (p.Gln637=)
n.2944A=
c.2123A= (p.Gln708=)
n.2938A=
Xg.53247098G>ACA413156304IQSEC2c.2779C>T (p.Gln927Ter)
c.572C>T
c.81C>T
c.2620C>T (p.Gln874Ter)
n.371C>T
c.2590C>T (p.Gln864Ter)
c.2005C>T (p.Gln669Ter)
c.2716C>T (p.Gln906Ter)
c.1942C>T (p.Gln648Ter)
c.1909C>T (p.Gln637Ter)
n.2943C>T
c.2122C>T (p.Gln708Ter)
n.2937C>T
Xg.53247098G>CCA413156308IQSEC2c.2779C>G (p.Gln927Glu)
c.572C>G
c.81C>G
c.2620C>G (p.Gln874Glu)
n.371C>G
c.2590C>G (p.Gln864Glu)
c.2005C>G (p.Gln669Glu)
c.2716C>G (p.Gln906Glu)
c.1942C>G (p.Gln648Glu)
c.1909C>G (p.Gln637Glu)
n.2943C>G
c.2122C>G (p.Gln708Glu)
n.2937C>G
Xg.53247098G>TCA413156306IQSEC2c.2779C>A (p.Gln927Lys)
c.572C>A
c.81C>A
c.2620C>A (p.Gln874Lys)
n.371C>A
c.2590C>A (p.Gln864Lys)
c.2005C>A (p.Gln669Lys)
c.2716C>A (p.Gln906Lys)
c.1942C>A (p.Gln648Lys)
c.1909C>A (p.Gln637Lys)
n.2943C>A
c.2122C>A (p.Gln708Lys)
n.2937C>A
Xg.53247099G>ACA516427566IQSEC2c.2778C>T (p.Arg926=)
c.571C>T
c.80C>T
c.2619C>T (p.Arg873=)
n.370C>T
c.2589C>T (p.Arg863=)
c.2004C>T (p.Arg668=)
c.2715C>T (p.Arg905=)
c.1941C>T (p.Arg647=)
c.1908C>T (p.Arg636=)
n.2942C>T
c.2121C>T (p.Arg707=)
n.2936C>T
Xg.53247099G>CCA516427568IQSEC2c.2778C>G (p.Arg926=)
c.571C>G
c.80C>G
c.2619C>G (p.Arg873=)
n.370C>G
c.2589C>G (p.Arg863=)
c.2004C>G (p.Arg668=)
c.2715C>G (p.Arg905=)
c.1941C>G (p.Arg647=)
c.1908C>G (p.Arg636=)
n.2942C>G
c.2121C>G (p.Arg707=)
n.2936C>G
Xg.53247099G>TCA516427570IQSEC2c.2778C>A (p.Arg926=)
c.571C>A
c.80C>A
c.2619C>A (p.Arg873=)
n.370C>A
c.2589C>A (p.Arg863=)
c.2004C>A (p.Arg668=)
c.2715C>A (p.Arg905=)
c.1941C>A (p.Arg647=)
c.1908C>A (p.Arg636=)
n.2942C>A
c.2121C>A (p.Arg707=)
n.2936C>A
Xg.53247100C>ACA413156312IQSEC2c.2777G>T (p.Arg926Leu)
c.570G>T
c.79G>T
c.2618G>T (p.Arg873Leu)
n.369G>T
c.2588G>T (p.Arg863Leu)
c.2003G>T (p.Arg668Leu)
c.2714G>T (p.Arg905Leu)
c.1940G>T (p.Arg647Leu)
c.1907G>T (p.Arg636Leu)
n.2941G>T
c.2120G>T (p.Arg707Leu)
n.2935G>T
Xg.53247100C=CA2429774610IQSEC2c.2777G= (p.Arg926=)
c.570G=
c.79G=
c.2618G= (p.Arg873=)
n.369G=
c.2588G= (p.Arg863=)
c.2003G= (p.Arg668=)
c.2714G= (p.Arg905=)
c.1940G= (p.Arg647=)
c.1907G= (p.Arg636=)
n.2941G=
c.2120G= (p.Arg707=)
n.2935G=
Xg.53247100C>GCA413156315IQSEC2c.2777G>C (p.Arg926Pro)
c.570G>C
c.79G>C
c.2618G>C (p.Arg873Pro)
n.369G>C
c.2588G>C (p.Arg863Pro)
c.2003G>C (p.Arg668Pro)
c.2714G>C (p.Arg905Pro)
c.1940G>C (p.Arg647Pro)
c.1907G>C (p.Arg636Pro)
n.2941G>C
c.2120G>C (p.Arg707Pro)
n.2935G>C
 ClinVar
Xg.53247100C>TCA10419901IQSEC2c.2777G>A (p.Arg926His)
c.570G>A
c.79G>A
c.2618G>A (p.Arg873His)
n.369G>A
c.2588G>A (p.Arg863His)
c.2003G>A (p.Arg668His)
c.2714G>A (p.Arg905His)
c.1940G>A (p.Arg647His)
c.1907G>A (p.Arg636His)
n.2941G>A
c.2120G>A (p.Arg707His)
n.2935G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53247101G>ACA10419902IQSEC2c.2776C>T (p.Arg926Cys)
c.569C>T
c.78C>T
c.2617C>T (p.Arg873Cys)
n.368C>T
c.2587C>T (p.Arg863Cys)
c.2002C>T (p.Arg668Cys)
c.2713C>T (p.Arg905Cys)
c.1939C>T (p.Arg647Cys)
c.1906C>T (p.Arg636Cys)
n.2940C>T
c.2119C>T (p.Arg707Cys)
n.2934C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53247101G>CCA413156319IQSEC2c.2776C>G (p.Arg926Gly)
c.569C>G
c.78C>G
c.2617C>G (p.Arg873Gly)
n.368C>G
c.2587C>G (p.Arg863Gly)
c.2002C>G (p.Arg668Gly)
c.2713C>G (p.Arg905Gly)
c.1939C>G (p.Arg647Gly)
c.1906C>G (p.Arg636Gly)
n.2940C>G
c.2119C>G (p.Arg707Gly)
n.2934C>G
Xg.53247101G=CA2429774611IQSEC2c.2776C= (p.Arg926=)
c.569C=
c.78C=
c.2617C= (p.Arg873=)
n.368C=
c.2587C= (p.Arg863=)
c.2002C= (p.Arg668=)
c.2713C= (p.Arg905=)
c.1939C= (p.Arg647=)
c.1906C= (p.Arg636=)
n.2940C=
c.2119C= (p.Arg707=)
n.2934C=
Xg.53247101G>TCA413156321IQSEC2c.2776C>A (p.Arg926Ser)
c.569C>A
c.78C>A
c.2617C>A (p.Arg873Ser)
n.368C>A
c.2587C>A (p.Arg863Ser)
c.2002C>A (p.Arg668Ser)
c.2713C>A (p.Arg905Ser)
c.1939C>A (p.Arg647Ser)
c.1906C>A (p.Arg636Ser)
n.2940C>A
c.2119C>A (p.Arg707Ser)
n.2934C>A
 ClinVar dbSNP gnomAD v4
Xg.53247102C>ACA516427582IQSEC2c.2775G>T (p.Val925=)
c.568G>T
c.77G>T
c.2616G>T (p.Val872=)
n.367G>T
c.2586G>T (p.Val862=)
c.2001G>T (p.Val667=)
c.2712G>T (p.Val904=)
c.1938G>T (p.Val646=)
c.1905G>T (p.Val635=)
n.2939G>T
c.2118G>T (p.Val706=)
n.2933G>T
Xg.53247102C>GCA516427584IQSEC2c.2775G>C (p.Val925=)
c.568G>C
c.77G>C
c.2616G>C (p.Val872=)
n.367G>C
c.2586G>C (p.Val862=)
c.2001G>C (p.Val667=)
c.2712G>C (p.Val904=)
c.1938G>C (p.Val646=)
c.1905G>C (p.Val635=)
n.2939G>C
c.2118G>C (p.Val706=)
n.2933G>C
Xg.53247102C>TCA516427587IQSEC2c.2775G>A (p.Val925=)
c.568G>A
c.77G>A
c.2616G>A (p.Val872=)
n.367G>A
c.2586G>A (p.Val862=)
c.2001G>A (p.Val667=)
c.2712G>A (p.Val904=)
c.1938G>A (p.Val646=)
c.1905G>A (p.Val635=)
n.2939G>A
c.2118G>A (p.Val706=)
n.2933G>A
Xg.53247103A>CCA413156324IQSEC2c.2774T>G (p.Val925Gly)
c.567T>G
c.76T>G
c.2615T>G (p.Val872Gly)
n.366T>G
c.2585T>G (p.Val862Gly)
c.2000T>G (p.Val667Gly)
c.2711T>G (p.Val904Gly)
c.1937T>G (p.Val646Gly)
c.1904T>G (p.Val635Gly)
n.2938T>G
c.2117T>G (p.Val706Gly)
n.2932T>G
Xg.53247103A>GCA413156325IQSEC2c.2774T>C (p.Val925Ala)
c.567T>C
c.76T>C
c.2615T>C (p.Val872Ala)
n.366T>C
c.2585T>C (p.Val862Ala)
c.2000T>C (p.Val667Ala)
c.2711T>C (p.Val904Ala)
c.1937T>C (p.Val646Ala)
c.1904T>C (p.Val635Ala)
n.2938T>C
c.2117T>C (p.Val706Ala)
n.2932T>C
Xg.53247103A>TCA413156326IQSEC2c.2774T>A (p.Val925Glu)
c.567T>A
c.76T>A
c.2615T>A (p.Val872Glu)
n.366T>A
c.2585T>A (p.Val862Glu)
c.2000T>A (p.Val667Glu)
c.2711T>A (p.Val904Glu)
c.1937T>A (p.Val646Glu)
c.1904T>A (p.Val635Glu)
n.2938T>A
c.2117T>A (p.Val706Glu)
n.2932T>A
Xg.53247104C>ACA413156327IQSEC2c.2773G>T (p.Val925Leu)
c.566G>T
c.75G>T
c.2614G>T (p.Val872Leu)
n.365G>T
c.2584G>T (p.Val862Leu)
c.1999G>T (p.Val667Leu)
c.2710G>T (p.Val904Leu)
c.1936G>T (p.Val646Leu)
c.1903G>T (p.Val635Leu)
n.2937G>T
c.2116G>T (p.Val706Leu)
n.2931G>T
Xg.53247104C>GCA413156329IQSEC2c.2773G>C (p.Val925Leu)
c.566G>C
c.75G>C
c.2614G>C (p.Val872Leu)
n.365G>C
c.2584G>C (p.Val862Leu)
c.1999G>C (p.Val667Leu)
c.2710G>C (p.Val904Leu)
c.1936G>C (p.Val646Leu)
c.1903G>C (p.Val635Leu)
n.2937G>C
c.2116G>C (p.Val706Leu)
n.2931G>C
Xg.53247104C>TCA413156330IQSEC2c.2773G>A (p.Val925Met)
c.566G>A
c.75G>A
c.2614G>A (p.Val872Met)
n.365G>A
c.2584G>A (p.Val862Met)
c.1999G>A (p.Val667Met)
c.2710G>A (p.Val904Met)
c.1936G>A (p.Val646Met)
c.1903G>A (p.Val635Met)
n.2937G>A
c.2116G>A (p.Val706Met)
n.2931G>A
 gnomAD v4
Xg.53247105G>ACA516427599IQSEC2c.2772C>T (p.Leu924=)
c.565C>T
c.74C>T
c.2613C>T (p.Leu871=)
n.364C>T
c.2583C>T (p.Leu861=)
c.1998C>T (p.Leu666=)
c.2709C>T (p.Leu903=)
c.1935C>T (p.Leu645=)
c.1902C>T (p.Leu634=)
n.2936C>T
c.2115C>T (p.Leu705=)
n.2930C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53247105G>CCA516427601IQSEC2c.2772C>G (p.Leu924=)
c.565C>G
c.74C>G
c.2613C>G (p.Leu871=)
n.364C>G
c.2583C>G (p.Leu861=)
c.1998C>G (p.Leu666=)
c.2709C>G (p.Leu903=)
c.1935C>G (p.Leu645=)
c.1902C>G (p.Leu634=)
n.2936C>G
c.2115C>G (p.Leu705=)
n.2930C>G
 dbSNP gnomAD v2 gnomAD v4
Xg.53247105G=CA2429774612IQSEC2c.2772C= (p.Leu924=)
c.565C=
c.74C=
c.2613C= (p.Leu871=)
n.364C=
c.2583C= (p.Leu861=)
c.1998C= (p.Leu666=)
c.2709C= (p.Leu903=)
c.1935C= (p.Leu645=)
c.1902C= (p.Leu634=)
n.2936C=
c.2115C= (p.Leu705=)
n.2930C=
Xg.53247105G>TCA516427603IQSEC2c.2772C>A (p.Leu924=)
c.565C>A
c.74C>A
c.2613C>A (p.Leu871=)
n.364C>A
c.2583C>A (p.Leu861=)
c.1998C>A (p.Leu666=)
c.2709C>A (p.Leu903=)
c.1935C>A (p.Leu645=)
c.1902C>A (p.Leu634=)
n.2936C>A
c.2115C>A (p.Leu705=)
n.2930C>A
 gnomAD v4
Xg.53247106A>CCA413156331IQSEC2c.2771T>G (p.Leu924Arg)
c.564T>G
c.73T>G
c.2612T>G (p.Leu871Arg)
n.363T>G
c.2582T>G (p.Leu861Arg)
c.1997T>G (p.Leu666Arg)
c.2708T>G (p.Leu903Arg)
c.1934T>G (p.Leu645Arg)
c.1901T>G (p.Leu634Arg)
n.2935T>G
c.2114T>G (p.Leu705Arg)
n.2929T>G
Xg.53247106A>GCA413156333IQSEC2c.2771T>C (p.Leu924Pro)
c.564T>C
c.73T>C
c.2612T>C (p.Leu871Pro)
n.363T>C
c.2582T>C (p.Leu861Pro)
c.1997T>C (p.Leu666Pro)
c.2708T>C (p.Leu903Pro)
c.1934T>C (p.Leu645Pro)
c.1901T>C (p.Leu634Pro)
n.2935T>C
c.2114T>C (p.Leu705Pro)
n.2929T>C
Xg.53247106A>TCA413156332IQSEC2c.2771T>A (p.Leu924His)
c.564T>A
c.73T>A
c.2612T>A (p.Leu871His)
n.363T>A
c.2582T>A (p.Leu861His)
c.1997T>A (p.Leu666His)
c.2708T>A (p.Leu903His)
c.1934T>A (p.Leu645His)
c.1901T>A (p.Leu634His)
n.2935T>A
c.2114T>A (p.Leu705His)
n.2929T>A
Xg.53247107G>ACA413156343IQSEC2c.2770C>T (p.Leu924Phe)
c.563C>T
c.72C>T
c.2611C>T (p.Leu871Phe)
n.362C>T
c.2581C>T (p.Leu861Phe)
c.1996C>T (p.Leu666Phe)
c.2707C>T (p.Leu903Phe)
c.1933C>T (p.Leu645Phe)
c.1900C>T (p.Leu634Phe)
n.2934C>T
c.2113C>T (p.Leu705Phe)
n.2928C>T
Xg.53247107G>CCA413156345IQSEC2c.2770C>G (p.Leu924Val)
c.563C>G
c.72C>G
c.2611C>G (p.Leu871Val)
n.362C>G
c.2581C>G (p.Leu861Val)
c.1996C>G (p.Leu666Val)
c.2707C>G (p.Leu903Val)
c.1933C>G (p.Leu645Val)
c.1900C>G (p.Leu634Val)
n.2934C>G
c.2113C>G (p.Leu705Val)
n.2928C>G
Xg.53247107G>TCA413156347IQSEC2c.2770C>A (p.Leu924Ile)
c.563C>A
c.72C>A
c.2611C>A (p.Leu871Ile)
n.362C>A
c.2581C>A (p.Leu861Ile)
c.1996C>A (p.Leu666Ile)
c.2707C>A (p.Leu903Ile)
c.1933C>A (p.Leu645Ile)
c.1900C>A (p.Leu634Ile)
n.2934C>A
c.2113C>A (p.Leu705Ile)
n.2928C>A
Xg.53247108G>ACA516427614IQSEC2c.2769C>T (p.Ala923=)
c.562C>T
c.71C>T
c.2610C>T (p.Ala870=)
n.361C>T
c.2580C>T (p.Ala860=)
c.1995C>T (p.Ala665=)
c.2706C>T (p.Ala902=)
c.1932C>T (p.Ala644=)
c.1899C>T (p.Ala633=)
n.2933C>T
c.2112C>T (p.Ala704=)
n.2927C>T
 gnomAD v4
Xg.53247108G>CCA516427617IQSEC2c.2769C>G (p.Ala923=)
c.562C>G
c.71C>G
c.2610C>G (p.Ala870=)
n.361C>G
c.2580C>G (p.Ala860=)
c.1995C>G (p.Ala665=)
c.2706C>G (p.Ala902=)
c.1932C>G (p.Ala644=)
c.1899C>G (p.Ala633=)
n.2933C>G
c.2112C>G (p.Ala704=)
n.2927C>G
Xg.53247108G>TCA516427619IQSEC2c.2769C>A (p.Ala923=)
c.562C>A
c.71C>A
c.2610C>A (p.Ala870=)
n.361C>A
c.2580C>A (p.Ala860=)
c.1995C>A (p.Ala665=)
c.2706C>A (p.Ala902=)
c.1932C>A (p.Ala644=)
c.1899C>A (p.Ala633=)
n.2933C>A
c.2112C>A (p.Ala704=)
n.2927C>A
Xg.53247109G>ACA413156349IQSEC2c.2768C>T (p.Ala923Val)
c.561C>T
c.70C>T
c.2609C>T (p.Ala870Val)
n.360C>T
c.2579C>T (p.Ala860Val)
c.1994C>T (p.Ala665Val)
c.2705C>T (p.Ala902Val)
c.1931C>T (p.Ala644Val)
c.1898C>T (p.Ala633Val)
n.2932C>T
c.2111C>T (p.Ala704Val)
n.2926C>T
Xg.53247109G>CCA413156350IQSEC2c.2768C>G (p.Ala923Gly)
c.561C>G
c.70C>G
c.2609C>G (p.Ala870Gly)
n.360C>G
c.2579C>G (p.Ala860Gly)
c.1994C>G (p.Ala665Gly)
c.2705C>G (p.Ala902Gly)
c.1931C>G (p.Ala644Gly)
c.1898C>G (p.Ala633Gly)
n.2932C>G
c.2111C>G (p.Ala704Gly)
n.2926C>G
Xg.53247109G>TCA413156352IQSEC2c.2768C>A (p.Ala923Asp)
c.561C>A
c.70C>A
c.2609C>A (p.Ala870Asp)
n.360C>A
c.2579C>A (p.Ala860Asp)
c.1994C>A (p.Ala665Asp)
c.2705C>A (p.Ala902Asp)
c.1931C>A (p.Ala644Asp)
c.1898C>A (p.Ala633Asp)
n.2932C>A
c.2111C>A (p.Ala704Asp)
n.2926C>A
Xg.53247110C>ACA413156355IQSEC2c.2767G>T (p.Ala923Ser)
c.560G>T
c.69G>T
c.2608G>T (p.Ala870Ser)
n.359G>T
c.2578G>T (p.Ala860Ser)
c.1993G>T (p.Ala665Ser)
c.2704G>T (p.Ala902Ser)
c.1930G>T (p.Ala644Ser)
c.1897G>T (p.Ala633Ser)
n.2931G>T
c.2110G>T (p.Ala704Ser)
n.2925G>T
Xg.53247110C>GCA413156356IQSEC2c.2767G>C (p.Ala923Pro)
c.560G>C
c.69G>C
c.2608G>C (p.Ala870Pro)
n.359G>C
c.2578G>C (p.Ala860Pro)
c.1993G>C (p.Ala665Pro)
c.2704G>C (p.Ala902Pro)
c.1930G>C (p.Ala644Pro)
c.1897G>C (p.Ala633Pro)
n.2931G>C
c.2110G>C (p.Ala704Pro)
n.2925G>C
Xg.53247110C>TCA413156359IQSEC2c.2767G>A (p.Ala923Thr)
c.560G>A
c.69G>A
c.2608G>A (p.Ala870Thr)
n.359G>A
c.2578G>A (p.Ala860Thr)
c.1993G>A (p.Ala665Thr)
c.2704G>A (p.Ala902Thr)
c.1930G>A (p.Ala644Thr)
c.1897G>A (p.Ala633Thr)
n.2931G>A
c.2110G>A (p.Ala704Thr)
n.2925G>A
Xg.53247111T>ACA516427634IQSEC2c.2766A>T (p.Pro922=)
c.559A>T
c.68A>T
c.2607A>T (p.Pro869=)
n.358A>T
c.2577A>T (p.Pro859=)
c.1992A>T (p.Pro664=)
c.2703A>T (p.Pro901=)
c.1929A>T (p.Pro643=)
c.1896A>T (p.Pro632=)
n.2930A>T
c.2109A>T (p.Pro703=)
n.2924A>T
Xg.53247111T>CCA516427632IQSEC2c.2766A>G (p.Pro922=)
c.559A>G
c.68A>G
c.2607A>G (p.Pro869=)
n.358A>G
c.2577A>G (p.Pro859=)
c.1992A>G (p.Pro664=)
c.2703A>G (p.Pro901=)
c.1929A>G (p.Pro643=)
c.1896A>G (p.Pro632=)
n.2930A>G
c.2109A>G (p.Pro703=)
n.2924A>G
Xg.53247111T>GCA516427630IQSEC2c.2766A>C (p.Pro922=)
c.559A>C
c.68A>C
c.2607A>C (p.Pro869=)
n.358A>C
c.2577A>C (p.Pro859=)
c.1992A>C (p.Pro664=)
c.2703A>C (p.Pro901=)
c.1929A>C (p.Pro643=)
c.1896A>C (p.Pro632=)
n.2930A>C
c.2109A>C (p.Pro703=)
n.2924A>C
Xg.53247112G>ACA413156361IQSEC2c.2765C>T (p.Pro922Leu)
c.558C>T
c.67C>T
c.2606C>T (p.Pro869Leu)
n.357C>T
c.2576C>T (p.Pro859Leu)
c.1991C>T (p.Pro664Leu)
c.2702C>T (p.Pro901Leu)
c.1928C>T (p.Pro643Leu)
c.1895C>T (p.Pro632Leu)
n.2929C>T
c.2108C>T (p.Pro703Leu)
n.2923C>T
Xg.53247112G>CCA413156364IQSEC2c.2765C>G (p.Pro922Arg)
c.558C>G
c.67C>G
c.2606C>G (p.Pro869Arg)
n.357C>G
c.2576C>G (p.Pro859Arg)
c.1991C>G (p.Pro664Arg)
c.2702C>G (p.Pro901Arg)
c.1928C>G (p.Pro643Arg)
c.1895C>G (p.Pro632Arg)
n.2929C>G
c.2108C>G (p.Pro703Arg)
n.2923C>G
Xg.53247112G>TCA413156365IQSEC2c.2765C>A (p.Pro922Gln)
c.558C>A
c.67C>A
c.2606C>A (p.Pro869Gln)
n.357C>A
c.2576C>A (p.Pro859Gln)
c.1991C>A (p.Pro664Gln)
c.2702C>A (p.Pro901Gln)
c.1928C>A (p.Pro643Gln)
c.1895C>A (p.Pro632Gln)
n.2929C>A
c.2108C>A (p.Pro703Gln)
n.2923C>A
Xg.53247113G>ACA413156367IQSEC2c.2764C>T (p.Pro922Ser)
c.557C>T
c.66C>T
c.2605C>T (p.Pro869Ser)
n.356C>T
c.2575C>T (p.Pro859Ser)
c.1990C>T (p.Pro664Ser)
c.2701C>T (p.Pro901Ser)
c.1927C>T (p.Pro643Ser)
c.1894C>T (p.Pro632Ser)
n.2928C>T
c.2107C>T (p.Pro703Ser)
n.2922C>T
Xg.53247113G>CCA413156368IQSEC2c.2764C>G (p.Pro922Ala)
c.557C>G
c.66C>G
c.2605C>G (p.Pro869Ala)
n.356C>G
c.2575C>G (p.Pro859Ala)
c.1990C>G (p.Pro664Ala)
c.2701C>G (p.Pro901Ala)
c.1927C>G (p.Pro643Ala)
c.1894C>G (p.Pro632Ala)
n.2928C>G
c.2107C>G (p.Pro703Ala)
n.2922C>G
Xg.53247113G>TCA413156366IQSEC2c.2764C>A (p.Pro922Thr)
c.557C>A
c.66C>A
c.2605C>A (p.Pro869Thr)
n.356C>A
c.2575C>A (p.Pro859Thr)
c.1990C>A (p.Pro664Thr)
c.2701C>A (p.Pro901Thr)
c.1927C>A (p.Pro643Thr)
c.1894C>A (p.Pro632Thr)
n.2928C>A
c.2107C>A (p.Pro703Thr)
n.2922C>A
Xg.53247114G>ACA516427649IQSEC2c.2763C>T (p.Asn921=)
c.556C>T
c.65C>T
c.2604C>T (p.Asn868=)
n.355C>T
c.2574C>T (p.Asn858=)
c.1989C>T (p.Asn663=)
c.2700C>T (p.Asn900=)
c.1926C>T (p.Asn642=)
c.1893C>T (p.Asn631=)
n.2927C>T
c.2106C>T (p.Asn702=)
n.2921C>T
Xg.53247114G>CCA413156370IQSEC2c.2763C>G (p.Asn921Lys)
c.556C>G
c.65C>G
c.2604C>G (p.Asn868Lys)
n.355C>G
c.2574C>G (p.Asn858Lys)
c.1989C>G (p.Asn663Lys)
c.2700C>G (p.Asn900Lys)
c.1926C>G (p.Asn642Lys)
c.1893C>G (p.Asn631Lys)
n.2927C>G
c.2106C>G (p.Asn702Lys)
n.2921C>G
Xg.53247114G>TCA413156372IQSEC2c.2763C>A (p.Asn921Lys)
c.556C>A
c.65C>A
c.2604C>A (p.Asn868Lys)
n.355C>A
c.2574C>A (p.Asn858Lys)
c.1989C>A (p.Asn663Lys)
c.2700C>A (p.Asn900Lys)
c.1926C>A (p.Asn642Lys)
c.1893C>A (p.Asn631Lys)
n.2927C>A
c.2106C>A (p.Asn702Lys)
n.2921C>A
Xg.53247115T>ACA413156374IQSEC2c.2762A>T (p.Asn921Ile)
c.555A>T
c.64A>T
c.2603A>T (p.Asn868Ile)
n.354A>T
c.2573A>T (p.Asn858Ile)
c.1988A>T (p.Asn663Ile)
c.2699A>T (p.Asn900Ile)
c.1925A>T (p.Asn642Ile)
c.1892A>T (p.Asn631Ile)
n.2926A>T
c.2105A>T (p.Asn702Ile)
n.2920A>T
Xg.53247115T>CCA413156376IQSEC2c.2762A>G (p.Asn921Ser)
c.555A>G
c.64A>G
c.2603A>G (p.Asn868Ser)
n.354A>G
c.2573A>G (p.Asn858Ser)
c.1988A>G (p.Asn663Ser)
c.2699A>G (p.Asn900Ser)
c.1925A>G (p.Asn642Ser)
c.1892A>G (p.Asn631Ser)
n.2926A>G
c.2105A>G (p.Asn702Ser)
n.2920A>G
Xg.53247115T>GCA413156378IQSEC2c.2762A>C (p.Asn921Thr)
c.555A>C
c.64A>C
c.2603A>C (p.Asn868Thr)
n.354A>C
c.2573A>C (p.Asn858Thr)
c.1988A>C (p.Asn663Thr)
c.2699A>C (p.Asn900Thr)
c.1925A>C (p.Asn642Thr)
c.1892A>C (p.Asn631Thr)
n.2926A>C
c.2105A>C (p.Asn702Thr)
n.2920A>C
Xg.53247116T>ACA413156382IQSEC2c.2761A>T (p.Asn921Tyr)
c.554A>T
c.63A>T
c.2602A>T (p.Asn868Tyr)
n.353A>T
c.2572A>T (p.Asn858Tyr)
c.1987A>T (p.Asn663Tyr)
c.2698A>T (p.Asn900Tyr)
c.1924A>T (p.Asn642Tyr)
c.1891A>T (p.Asn631Tyr)
n.2925A>T
c.2104A>T (p.Asn702Tyr)
n.2919A>T
Xg.53247116T>CCA413156380IQSEC2c.2761A>G (p.Asn921Asp)
c.554A>G
c.63A>G
c.2602A>G (p.Asn868Asp)
n.353A>G
c.2572A>G (p.Asn858Asp)
c.1987A>G (p.Asn663Asp)
c.2698A>G (p.Asn900Asp)
c.1924A>G (p.Asn642Asp)
c.1891A>G (p.Asn631Asp)
n.2925A>G
c.2104A>G (p.Asn702Asp)
n.2919A>G
Xg.53247116T>GCA413156381IQSEC2c.2761A>C (p.Asn921His)
c.554A>C
c.63A>C
c.2602A>C (p.Asn868His)
n.353A>C
c.2572A>C (p.Asn858His)
c.1987A>C (p.Asn663His)
c.2698A>C (p.Asn900His)
c.1924A>C (p.Asn642His)
c.1891A>C (p.Asn631His)
n.2925A>C
c.2104A>C (p.Asn702His)
n.2919A>C
Xg.53247116_53247117delCA2579614534IQSEC2c.2760_2761del (p.Cys920Ter)
c.553_554del
c.62_63del
c.2601_2602del (p.Cys867Ter)
n.352_353del
c.2571_2572del (p.Cys857Ter)
c.1986_1987del (p.Cys662Ter)
c.2697_2698del (p.Cys899Ter)
c.1923_1924del (p.Cys641Ter)
c.1890_1891del (p.Cys630Ter)
n.2924_2925del
c.2103_2104del (p.Cys701Ter)
n.2918_2919del
Xg.53247117A>CCA413156384IQSEC2c.2760T>G (p.Cys920Trp)
c.553T>G
c.62T>G
c.2601T>G (p.Cys867Trp)
n.352T>G
c.2571T>G (p.Cys857Trp)
c.1986T>G (p.Cys662Trp)
c.2697T>G (p.Cys899Trp)
c.1923T>G (p.Cys641Trp)
c.1890T>G (p.Cys630Trp)
n.2924T>G
c.2103T>G (p.Cys701Trp)
n.2918T>G
Xg.53247117A>GCA516427676IQSEC2c.2760T>C (p.Cys920=)
c.553T>C
c.62T>C
c.2601T>C (p.Cys867=)
n.352T>C
c.2571T>C (p.Cys857=)
c.1986T>C (p.Cys662=)
c.2697T>C (p.Cys899=)
c.1923T>C (p.Cys641=)
c.1890T>C (p.Cys630=)
n.2924T>C
c.2103T>C (p.Cys701=)
n.2918T>C
Xg.53247117A>TCA413156387IQSEC2c.2760T>A (p.Cys920Ter)
c.553T>A
c.62T>A
c.2601T>A (p.Cys867Ter)
n.352T>A
c.2571T>A (p.Cys857Ter)
c.1986T>A (p.Cys662Ter)
c.2697T>A (p.Cys899Ter)
c.1923T>A (p.Cys641Ter)
c.1890T>A (p.Cys630Ter)
n.2924T>A
c.2103T>A (p.Cys701Ter)
n.2918T>A
Xg.53247118C>ACA413156390IQSEC2c.2759G>T (p.Cys920Phe)
c.552G>T
c.61G>T
c.2600G>T (p.Cys867Phe)
n.351G>T
c.2570G>T (p.Cys857Phe)
c.1985G>T (p.Cys662Phe)
c.2696G>T (p.Cys899Phe)
c.1922G>T (p.Cys641Phe)
c.1889G>T (p.Cys630Phe)
n.2923G>T
c.2102G>T (p.Cys701Phe)
n.2917G>T
Xg.53247118C>GCA413156393IQSEC2c.2759G>C (p.Cys920Ser)
c.552G>C
c.61G>C
c.2600G>C (p.Cys867Ser)
n.351G>C
c.2570G>C (p.Cys857Ser)
c.1985G>C (p.Cys662Ser)
c.2696G>C (p.Cys899Ser)
c.1922G>C (p.Cys641Ser)
c.1889G>C (p.Cys630Ser)
n.2923G>C
c.2102G>C (p.Cys701Ser)
n.2917G>C
Xg.53247118C>TCA413156396IQSEC2c.2759G>A (p.Cys920Tyr)
c.552G>A
c.61G>A
c.2600G>A (p.Cys867Tyr)
n.351G>A
c.2570G>A (p.Cys857Tyr)
c.1985G>A (p.Cys662Tyr)
c.2696G>A (p.Cys899Tyr)
c.1922G>A (p.Cys641Tyr)
c.1889G>A (p.Cys630Tyr)
n.2923G>A
c.2102G>A (p.Cys701Tyr)
n.2917G>A
Xg.53247119A>CCA413156398IQSEC2c.2758T>G (p.Cys920Gly)
c.551T>G
c.60T>G
c.2599T>G (p.Cys867Gly)
n.350T>G
c.2569T>G (p.Cys857Gly)
c.1984T>G (p.Cys662Gly)
c.2695T>G (p.Cys899Gly)
c.1921T>G (p.Cys641Gly)
c.1888T>G (p.Cys630Gly)
n.2922T>G
c.2101T>G (p.Cys701Gly)
n.2916T>G
Xg.53247119A>GCA413156401IQSEC2c.2758T>C (p.Cys920Arg)
c.551T>C
c.60T>C
c.2599T>C (p.Cys867Arg)
n.350T>C
c.2569T>C (p.Cys857Arg)
c.1984T>C (p.Cys662Arg)
c.2695T>C (p.Cys899Arg)
c.1921T>C (p.Cys641Arg)
c.1888T>C (p.Cys630Arg)
n.2922T>C
c.2101T>C (p.Cys701Arg)
n.2916T>C
Xg.53247119A>TCA413156399IQSEC2c.2758T>A (p.Cys920Ser)
c.551T>A
c.60T>A
c.2599T>A (p.Cys867Ser)
n.350T>A
c.2569T>A (p.Cys857Ser)
c.1984T>A (p.Cys662Ser)
c.2695T>A (p.Cys899Ser)
c.1921T>A (p.Cys641Ser)
c.1888T>A (p.Cys630Ser)
n.2922T>A
c.2101T>A (p.Cys701Ser)
n.2916T>A
Xg.53247120G>ACA516427688IQSEC2c.2757C>T (p.Val919=)
c.550C>T
c.59C>T
c.2598C>T (p.Val866=)
n.349C>T
c.2568C>T (p.Val856=)
c.1983C>T (p.Val661=)
c.2694C>T (p.Val898=)
c.1920C>T (p.Val640=)
c.1887C>T (p.Val629=)
n.2921C>T
c.2100C>T (p.Val700=)
n.2915C>T
Xg.53247120G>CCA516427689IQSEC2c.2757C>G (p.Val919=)
c.550C>G
c.59C>G
c.2598C>G (p.Val866=)
n.349C>G
c.2568C>G (p.Val856=)
c.1983C>G (p.Val661=)
c.2694C>G (p.Val898=)
c.1920C>G (p.Val640=)
c.1887C>G (p.Val629=)
n.2921C>G
c.2100C>G (p.Val700=)
n.2915C>G
Xg.53247120G>TCA516427691IQSEC2c.2757C>A (p.Val919=)
c.550C>A
c.59C>A
c.2598C>A (p.Val866=)
n.349C>A
c.2568C>A (p.Val856=)
c.1983C>A (p.Val661=)
c.2694C>A (p.Val898=)
c.1920C>A (p.Val640=)
c.1887C>A (p.Val629=)
n.2921C>A
c.2100C>A (p.Val700=)
n.2915C>A
Xg.53247121A>CCA413156403IQSEC2c.2756T>G (p.Val919Gly)
c.549T>G
c.58T>G
c.2597T>G (p.Val866Gly)
n.348T>G
c.2567T>G (p.Val856Gly)
c.1982T>G (p.Val661Gly)
c.2693T>G (p.Val898Gly)
c.1919T>G (p.Val640Gly)
c.1886T>G (p.Val629Gly)
n.2920T>G
c.2099T>G (p.Val700Gly)
n.2914T>G
Xg.53247121A>GCA413156407IQSEC2c.2756T>C (p.Val919Ala)
c.549T>C
c.58T>C
c.2597T>C (p.Val866Ala)
n.348T>C
c.2567T>C (p.Val856Ala)
c.1982T>C (p.Val661Ala)
c.2693T>C (p.Val898Ala)
c.1919T>C (p.Val640Ala)
c.1886T>C (p.Val629Ala)
n.2920T>C
c.2099T>C (p.Val700Ala)
n.2914T>C
Xg.53247121A>TCA413156404IQSEC2c.2756T>A (p.Val919Asp)
c.549T>A
c.58T>A
c.2597T>A (p.Val866Asp)
n.348T>A
c.2567T>A (p.Val856Asp)
c.1982T>A (p.Val661Asp)
c.2693T>A (p.Val898Asp)
c.1919T>A (p.Val640Asp)
c.1886T>A (p.Val629Asp)
n.2920T>A
c.2099T>A (p.Val700Asp)
n.2914T>A
Xg.53247122C>ACA413156418IQSEC2c.2755G>T (p.Val919Phe)
c.548G>T
c.57G>T
c.2596G>T (p.Val866Phe)
n.347G>T
c.2566G>T (p.Val856Phe)
c.1981G>T (p.Val661Phe)
c.2692G>T (p.Val898Phe)
c.1918G>T (p.Val640Phe)
c.1885G>T (p.Val629Phe)
n.2919G>T
c.2098G>T (p.Val700Phe)
n.2913G>T
Xg.53247122C>GCA413156420IQSEC2c.2755G>C (p.Val919Leu)
c.548G>C
c.57G>C
c.2596G>C (p.Val866Leu)
n.347G>C
c.2566G>C (p.Val856Leu)
c.1981G>C (p.Val661Leu)
c.2692G>C (p.Val898Leu)
c.1918G>C (p.Val640Leu)
c.1885G>C (p.Val629Leu)
n.2919G>C
c.2098G>C (p.Val700Leu)
n.2913G>C
Xg.53247122C>TCA413156421IQSEC2c.2755G>A (p.Val919Ile)
c.548G>A
c.57G>A
c.2596G>A (p.Val866Ile)
n.347G>A
c.2566G>A (p.Val856Ile)
c.1981G>A (p.Val661Ile)
c.2692G>A (p.Val898Ile)
c.1918G>A (p.Val640Ile)
c.1885G>A (p.Val629Ile)
n.2919G>A
c.2098G>A (p.Val700Ile)
n.2913G>A
 ClinVar gnomAD v4
Xg.53247123A>CCA413156424IQSEC2c.2754T>G (p.Cys918Trp)
c.547T>G
c.56T>G
c.2595T>G (p.Cys865Trp)
n.346T>G
c.2565T>G (p.Cys855Trp)
c.1980T>G (p.Cys660Trp)
c.2691T>G (p.Cys897Trp)
c.1917T>G (p.Cys639Trp)
c.1884T>G (p.Cys628Trp)
n.2918T>G
c.2097T>G (p.Cys699Trp)
n.2912T>G
Xg.53247123A>GCA516427700IQSEC2c.2754T>C (p.Cys918=)
c.547T>C
c.56T>C
c.2595T>C (p.Cys865=)
n.346T>C
c.2565T>C (p.Cys855=)
c.1980T>C (p.Cys660=)
c.2691T>C (p.Cys897=)
c.1917T>C (p.Cys639=)
c.1884T>C (p.Cys628=)
n.2918T>C
c.2097T>C (p.Cys699=)
n.2912T>C
Xg.53247123A>TCA413156427IQSEC2c.2754T>A (p.Cys918Ter)
c.547T>A
c.56T>A
c.2595T>A (p.Cys865Ter)
n.346T>A
c.2565T>A (p.Cys855Ter)
c.1980T>A (p.Cys660Ter)
c.2691T>A (p.Cys897Ter)
c.1917T>A (p.Cys639Ter)
c.1884T>A (p.Cys628Ter)
n.2918T>A
c.2097T>A (p.Cys699Ter)
n.2912T>A
Xg.53247124C>ACA413156431IQSEC2c.2753G>T (p.Cys918Phe)
c.546G>T
c.55G>T
c.2594G>T (p.Cys865Phe)
n.345G>T
c.2564G>T (p.Cys855Phe)
c.1979G>T (p.Cys660Phe)
c.2690G>T (p.Cys897Phe)
c.1916G>T (p.Cys639Phe)
c.1883G>T (p.Cys628Phe)
n.2917G>T
c.2096G>T (p.Cys699Phe)
n.2911G>T
Xg.53247124C>GCA413156432IQSEC2c.2753G>C (p.Cys918Ser)
c.546G>C
c.55G>C
c.2594G>C (p.Cys865Ser)
n.345G>C
c.2564G>C (p.Cys855Ser)
c.1979G>C (p.Cys660Ser)
c.2690G>C (p.Cys897Ser)
c.1916G>C (p.Cys639Ser)
c.1883G>C (p.Cys628Ser)
n.2917G>C
c.2096G>C (p.Cys699Ser)
n.2911G>C
Xg.53247124C>TCA413156435IQSEC2c.2753G>A (p.Cys918Tyr)
c.546G>A
c.55G>A
c.2594G>A (p.Cys865Tyr)
n.345G>A
c.2564G>A (p.Cys855Tyr)
c.1979G>A (p.Cys660Tyr)
c.2690G>A (p.Cys897Tyr)
c.1916G>A (p.Cys639Tyr)
c.1883G>A (p.Cys628Tyr)
n.2917G>A
c.2096G>A (p.Cys699Tyr)
n.2911G>A
Xg.53247125A>CCA413156437IQSEC2c.2752T>G (p.Cys918Gly)
c.545T>G
c.54T>G
c.2593T>G (p.Cys865Gly)
n.344T>G
c.2563T>G (p.Cys855Gly)
c.1978T>G (p.Cys660Gly)
c.2689T>G (p.Cys897Gly)
c.1915T>G (p.Cys639Gly)
c.1882T>G (p.Cys628Gly)
n.2916T>G
c.2095T>G (p.Cys699Gly)
n.2910T>G
Xg.53247125A>GCA413156439IQSEC2c.2752T>C (p.Cys918Arg)
c.545T>C
c.54T>C
c.2593T>C (p.Cys865Arg)
n.344T>C
c.2563T>C (p.Cys855Arg)
c.1978T>C (p.Cys660Arg)
c.2689T>C (p.Cys897Arg)
c.1915T>C (p.Cys639Arg)
c.1882T>C (p.Cys628Arg)
n.2916T>C
c.2095T>C (p.Cys699Arg)
n.2910T>C
Xg.53247125A>TCA413156442IQSEC2c.2752T>A (p.Cys918Ser)
c.545T>A
c.54T>A
c.2593T>A (p.Cys865Ser)
n.344T>A
c.2563T>A (p.Cys855Ser)
c.1978T>A (p.Cys660Ser)
c.2689T>A (p.Cys897Ser)
c.1915T>A (p.Cys639Ser)
c.1882T>A (p.Cys628Ser)
n.2916T>A
c.2095T>A (p.Cys699Ser)
n.2910T>A
Xg.53247126G>ACA516427713IQSEC2c.2751C>T (p.Tyr917=)
c.544C>T
c.53C>T
c.2592C>T (p.Tyr864=)
n.343C>T
c.2562C>T (p.Tyr854=)
c.1977C>T (p.Tyr659=)
c.2688C>T (p.Tyr896=)
c.1914C>T (p.Tyr638=)
c.1881C>T (p.Tyr627=)
n.2915C>T
c.2094C>T (p.Tyr698=)
n.2909C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53247126G>CCA413156445IQSEC2c.2751C>G (p.Tyr917Ter)
c.544C>G
c.53C>G
c.2592C>G (p.Tyr864Ter)
n.343C>G
c.2562C>G (p.Tyr854Ter)
c.1977C>G (p.Tyr659Ter)
c.2688C>G (p.Tyr896Ter)
c.1914C>G (p.Tyr638Ter)
c.1881C>G (p.Tyr627Ter)
n.2915C>G
c.2094C>G (p.Tyr698Ter)
n.2909C>G
Xg.53247126G=CA2429774613IQSEC2c.2751C= (p.Tyr917=)
c.544C=
c.53C=
c.2592C= (p.Tyr864=)
n.343C=
c.2562C= (p.Tyr854=)
c.1977C= (p.Tyr659=)
c.2688C= (p.Tyr896=)
c.1914C= (p.Tyr638=)
c.1881C= (p.Tyr627=)
n.2915C=
c.2094C= (p.Tyr698=)
n.2909C=
Xg.53247126G>TCA413156448IQSEC2c.2751C>A (p.Tyr917Ter)
c.544C>A
c.53C>A
c.2592C>A (p.Tyr864Ter)
n.343C>A
c.2562C>A (p.Tyr854Ter)
c.1977C>A (p.Tyr659Ter)
c.2688C>A (p.Tyr896Ter)
c.1914C>A (p.Tyr638Ter)
c.1881C>A (p.Tyr627Ter)
n.2915C>A
c.2094C>A (p.Tyr698Ter)
n.2909C>A
Xg.53247127T>ACA413156451IQSEC2c.2750A>T (p.Tyr917Phe)
c.543A>T
c.52A>T
c.2591A>T (p.Tyr864Phe)
n.342A>T
c.2561A>T (p.Tyr854Phe)
c.1976A>T (p.Tyr659Phe)
c.2687A>T (p.Tyr896Phe)
c.1913A>T (p.Tyr638Phe)
c.1880A>T (p.Tyr627Phe)
n.2914A>T
c.2093A>T (p.Tyr698Phe)
n.2908A>T
Xg.53247127T>CCA413156458IQSEC2c.2750A>G (p.Tyr917Cys)
c.543A>G
c.52A>G
c.2591A>G (p.Tyr864Cys)
n.342A>G
c.2561A>G (p.Tyr854Cys)
c.1976A>G (p.Tyr659Cys)
c.2687A>G (p.Tyr896Cys)
c.1913A>G (p.Tyr638Cys)
c.1880A>G (p.Tyr627Cys)
n.2914A>G
c.2093A>G (p.Tyr698Cys)
n.2908A>G
Xg.53247127T>GCA413156454IQSEC2c.2750A>C (p.Tyr917Ser)
c.543A>C
c.52A>C
c.2591A>C (p.Tyr864Ser)
n.342A>C
c.2561A>C (p.Tyr854Ser)
c.1976A>C (p.Tyr659Ser)
c.2687A>C (p.Tyr896Ser)
c.1913A>C (p.Tyr638Ser)
c.1880A>C (p.Tyr627Ser)
n.2914A>C
c.2093A>C (p.Tyr698Ser)
n.2908A>C
Xg.53247128A>CCA413156466IQSEC2c.2749T>G (p.Tyr917Asp)
c.542T>G
c.51T>G
c.2590T>G (p.Tyr864Asp)
n.341T>G
c.2560T>G (p.Tyr854Asp)
c.1975T>G (p.Tyr659Asp)
c.2686T>G (p.Tyr896Asp)
c.1912T>G (p.Tyr638Asp)
c.1879T>G (p.Tyr627Asp)
n.2913T>G
c.2092T>G (p.Tyr698Asp)
n.2907T>G
Xg.53247128A>GCA413156468IQSEC2c.2749T>C (p.Tyr917His)
c.542T>C
c.51T>C
c.2590T>C (p.Tyr864His)
n.341T>C
c.2560T>C (p.Tyr854His)
c.1975T>C (p.Tyr659His)
c.2686T>C (p.Tyr896His)
c.1912T>C (p.Tyr638His)
c.1879T>C (p.Tyr627His)
n.2913T>C
c.2092T>C (p.Tyr698His)
n.2907T>C
Xg.53247128A>TCA413156471IQSEC2c.2749T>A (p.Tyr917Asn)
c.542T>A
c.51T>A
c.2590T>A (p.Tyr864Asn)
n.341T>A
c.2560T>A (p.Tyr854Asn)
c.1975T>A (p.Tyr659Asn)
c.2686T>A (p.Tyr896Asn)
c.1912T>A (p.Tyr638Asn)
c.1879T>A (p.Tyr627Asn)
n.2913T>A
c.2092T>A (p.Tyr698Asn)
n.2907T>A
Xg.53247129C>ACA516427724IQSEC2c.2748G>T (p.Arg916=)
c.541G>T
c.50G>T
c.2589G>T (p.Arg863=)
n.340G>T
c.2559G>T (p.Arg853=)
c.1974G>T (p.Arg658=)
c.2685G>T (p.Arg895=)
c.1911G>T (p.Arg637=)
c.1878G>T (p.Arg626=)
n.2912G>T
c.2091G>T (p.Arg697=)
n.2906G>T
Xg.53247129C=CA2429774614IQSEC2c.2748G= (p.Arg916=)
c.541G=
c.50G=
c.2589G= (p.Arg863=)
n.340G=
c.2559G= (p.Arg853=)
c.1974G= (p.Arg658=)
c.2685G= (p.Arg895=)
c.1911G= (p.Arg637=)
c.1878G= (p.Arg626=)
n.2912G=
c.2091G= (p.Arg697=)
n.2906G=
Xg.53247129C>GCA516427725IQSEC2c.2748G>C (p.Arg916=)
c.541G>C
c.50G>C
c.2589G>C (p.Arg863=)
n.340G>C
c.2559G>C (p.Arg853=)
c.1974G>C (p.Arg658=)
c.2685G>C (p.Arg895=)
c.1911G>C (p.Arg637=)
c.1878G>C (p.Arg626=)
n.2912G>C
c.2091G>C (p.Arg697=)
n.2906G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53247129C>TCA516427726IQSEC2c.2748G>A (p.Arg916=)
c.541G>A
c.50G>A
c.2589G>A (p.Arg863=)
n.340G>A
c.2559G>A (p.Arg853=)
c.1974G>A (p.Arg658=)
c.2685G>A (p.Arg895=)
c.1911G>A (p.Arg637=)
c.1878G>A (p.Arg626=)
n.2912G>A
c.2091G>A (p.Arg697=)
n.2906G>A
 gnomAD v4
Xg.53247130C>ACA413156474IQSEC2c.2747G>T (p.Arg916Leu)
c.540G>T
c.49G>T
c.2588G>T (p.Arg863Leu)
n.339G>T
c.2558G>T (p.Arg853Leu)
c.1973G>T (p.Arg658Leu)
c.2684G>T (p.Arg895Leu)
c.1910G>T (p.Arg637Leu)
c.1877G>T (p.Arg626Leu)
n.2911G>T
c.2090G>T (p.Arg697Leu)
n.2905G>T
Xg.53247130C=CA2429774615IQSEC2c.2747G= (p.Arg916=)
c.540G=
c.49G=
c.2588G= (p.Arg863=)
n.339G=
c.2558G= (p.Arg853=)
c.1973G= (p.Arg658=)
c.2684G= (p.Arg895=)
c.1910G= (p.Arg637=)
c.1877G= (p.Arg626=)
n.2911G=
c.2090G= (p.Arg697=)
n.2905G=
Xg.53247130C>GCA413156479IQSEC2c.2747G>C (p.Arg916Pro)
c.540G>C
c.49G>C
c.2588G>C (p.Arg863Pro)
n.339G>C
c.2558G>C (p.Arg853Pro)
c.1973G>C (p.Arg658Pro)
c.2684G>C (p.Arg895Pro)
c.1910G>C (p.Arg637Pro)
c.1877G>C (p.Arg626Pro)
n.2911G>C
c.2090G>C (p.Arg697Pro)
n.2905G>C
Xg.53247130C>TCA10419903IQSEC2c.2747G>A (p.Arg916Gln)
c.540G>A
c.49G>A
c.2588G>A (p.Arg863Gln)
n.339G>A
c.2558G>A (p.Arg853Gln)
c.1973G>A (p.Arg658Gln)
c.2684G>A (p.Arg895Gln)
c.1910G>A (p.Arg637Gln)
c.1877G>A (p.Arg626Gln)
n.2911G>A
c.2090G>A (p.Arg697Gln)
n.2905G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53247131G>ACA247579IQSEC2c.2746C>T (p.Arg916Trp)
c.539C>T
c.48C>T
c.2587C>T (p.Arg863Trp)
n.338C>T
c.2557C>T (p.Arg853Trp)
c.1972C>T (p.Arg658Trp)
c.2683C>T (p.Arg895Trp)
c.1909C>T (p.Arg637Trp)
c.1876C>T (p.Arg626Trp)
n.2910C>T
c.2089C>T (p.Arg697Trp)
n.2904C>T
 ClinVar dbSNP gnomAD v4
Xg.53247131G>CCA413156489IQSEC2c.2746C>G (p.Arg916Gly)
c.539C>G
c.48C>G
c.2587C>G (p.Arg863Gly)
n.338C>G
c.2557C>G (p.Arg853Gly)
c.1972C>G (p.Arg658Gly)
c.2683C>G (p.Arg895Gly)
c.1909C>G (p.Arg637Gly)
c.1876C>G (p.Arg626Gly)
n.2910C>G
c.2089C>G (p.Arg697Gly)
n.2904C>G
Xg.53247131G=CA2429774616IQSEC2c.2746C= (p.Arg916=)
c.539C=
c.48C=
c.2587C= (p.Arg863=)
n.338C=
c.2557C= (p.Arg853=)
c.1972C= (p.Arg658=)
c.2683C= (p.Arg895=)
c.1909C= (p.Arg637=)
c.1876C= (p.Arg626=)
n.2910C=
c.2089C= (p.Arg697=)
n.2904C=
Xg.53247131G>TCA516427736IQSEC2c.2746C>A (p.Arg916=)
c.539C>A
c.48C>A
c.2587C>A (p.Arg863=)
n.338C>A
c.2557C>A (p.Arg853=)
c.1972C>A (p.Arg658=)
c.2683C>A (p.Arg895=)
c.1909C>A (p.Arg637=)
c.1876C>A (p.Arg626=)
n.2910C>A
c.2089C>A (p.Arg697=)
n.2904C>A
 gnomAD v4
Xg.53247132C>ACA413156497IQSEC2c.2745G>T (p.Gln915His)
c.538G>T
c.47G>T
c.2586G>T (p.Gln862His)
n.337G>T
c.2556G>T (p.Gln852His)
c.1971G>T (p.Gln657His)
c.2682G>T (p.Gln894His)
c.1908G>T (p.Gln636His)
c.1875G>T (p.Gln625His)
n.2909G>T
c.2088G>T (p.Gln696His)
n.2903G>T
Xg.53247132C>GCA413156501IQSEC2c.2745G>C (p.Gln915His)
c.538G>C
c.47G>C
c.2586G>C (p.Gln862His)
n.337G>C
c.2556G>C (p.Gln852His)
c.1971G>C (p.Gln657His)
c.2682G>C (p.Gln894His)
c.1908G>C (p.Gln636His)
c.1875G>C (p.Gln625His)
n.2909G>C
c.2088G>C (p.Gln696His)
n.2903G>C
Xg.53247132C>TCA516427741IQSEC2c.2745G>A (p.Gln915=)
c.538G>A
c.47G>A
c.2586G>A (p.Gln862=)
n.337G>A
c.2556G>A (p.Gln852=)
c.1971G>A (p.Gln657=)
c.2682G>A (p.Gln894=)
c.1908G>A (p.Gln636=)
c.1875G>A (p.Gln625=)
n.2909G>A
c.2088G>A (p.Gln696=)
n.2903G>A
Xg.53247133T>ACA413156515IQSEC2c.2744A>T (p.Gln915Leu)
c.537A>T
c.46A>T
c.2585A>T (p.Gln862Leu)
n.336A>T
c.2555A>T (p.Gln852Leu)
c.1970A>T (p.Gln657Leu)
c.2681A>T (p.Gln894Leu)
c.1907A>T (p.Gln636Leu)
c.1874A>T (p.Gln625Leu)
n.2908A>T
c.2087A>T (p.Gln696Leu)
n.2902A>T
Xg.53247133T>CCA413156509IQSEC2c.2744A>G (p.Gln915Arg)
c.537A>G
c.46A>G
c.2585A>G (p.Gln862Arg)
n.336A>G
c.2555A>G (p.Gln852Arg)
c.1970A>G (p.Gln657Arg)
c.2681A>G (p.Gln894Arg)
c.1907A>G (p.Gln636Arg)
c.1874A>G (p.Gln625Arg)
n.2908A>G
c.2087A>G (p.Gln696Arg)
n.2902A>G
Xg.53247133T>GCA413156505IQSEC2c.2744A>C (p.Gln915Pro)
c.537A>C
c.46A>C
c.2585A>C (p.Gln862Pro)
n.336A>C
c.2555A>C (p.Gln852Pro)
c.1970A>C (p.Gln657Pro)
c.2681A>C (p.Gln894Pro)
c.1907A>C (p.Gln636Pro)
c.1874A>C (p.Gln625Pro)
n.2908A>C
c.2087A>C (p.Gln696Pro)
n.2902A>C
Xg.53247134G>ACA413156518IQSEC2c.2743C>T (p.Gln915Ter)
c.536C>T
c.45C>T
c.2584C>T (p.Gln862Ter)
n.335C>T
c.2554C>T (p.Gln852Ter)
c.1969C>T (p.Gln657Ter)
c.2680C>T (p.Gln894Ter)
c.1906C>T (p.Gln636Ter)
c.1873C>T (p.Gln625Ter)
n.2907C>T
c.2086C>T (p.Gln696Ter)
n.2901C>T
Xg.53247134G>CCA413156520IQSEC2c.2743C>G (p.Gln915Glu)
c.536C>G
c.45C>G
c.2584C>G (p.Gln862Glu)
n.335C>G
c.2554C>G (p.Gln852Glu)
c.1969C>G (p.Gln657Glu)
c.2680C>G (p.Gln894Glu)
c.1906C>G (p.Gln636Glu)
c.1873C>G (p.Gln625Glu)
n.2907C>G
c.2086C>G (p.Gln696Glu)
n.2901C>G
Xg.53247134G>TCA413156524IQSEC2c.2743C>A (p.Gln915Lys)
c.536C>A
c.45C>A
c.2584C>A (p.Gln862Lys)
n.335C>A
c.2554C>A (p.Gln852Lys)
c.1969C>A (p.Gln657Lys)
c.2680C>A (p.Gln894Lys)
c.1906C>A (p.Gln636Lys)
c.1873C>A (p.Gln625Lys)
n.2907C>A
c.2086C>A (p.Gln696Lys)
n.2901C>A

Number of alleles fetched