Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27232168G>ACA425598733CADc.2589G>A (p.Leu863=)
c.2400G>A (p.Leu800=)
n.337G>A
c.315G>A (p.Leu105=)
2g.27232168G>CCA425598730CADc.2589G>C (p.Leu863=)
c.2400G>C (p.Leu800=)
n.337G>C
c.315G>C (p.Leu105=)
2g.27232168G=CA1240180317CADc.2589G= (p.Leu863=)
c.2400G= (p.Leu800=)
n.337G=
c.315G= (p.Leu105=)
2g.27232168G>TCA425598731CADc.2589G>T (p.Leu863=)
c.2400G>T (p.Leu800=)
n.337G>T
c.315G>T (p.Leu105=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27232169C>ACA346211875CADc.2590C>A (p.Gln864Lys)
c.2401C>A (p.Gln801Lys)
n.338C>A
c.316C>A (p.Gln106Lys)
2g.27232169C>GCA346211877CADc.2590C>G (p.Gln864Glu)
c.2401C>G (p.Gln801Glu)
n.338C>G
c.316C>G (p.Gln106Glu)
2g.27232169C>TCA346211879CADc.2590C>T (p.Gln864Ter)
c.2401C>T (p.Gln801Ter)
n.338C>T
c.316C>T (p.Gln106Ter)
2g.27232170A>CCA346211882CADc.2591A>C (p.Gln864Pro)
c.2402A>C (p.Gln801Pro)
n.339A>C
c.317A>C (p.Gln106Pro)
2g.27232170A>GCA346211885CADc.2591A>G (p.Gln864Arg)
c.2402A>G (p.Gln801Arg)
n.339A>G
c.317A>G (p.Gln106Arg)
2g.27232170A>TCA346211888CADc.2591A>T (p.Gln864Leu)
c.2402A>T (p.Gln801Leu)
n.339A>T
c.317A>T (p.Gln106Leu)
2g.27232171A>CCA346211891CADc.2592A>C (p.Gln864His)
c.2403A>C (p.Gln801His)
n.340A>C
c.318A>C (p.Gln106His)
2g.27232171A>GCA425598738CADc.2592A>G (p.Gln864=)
c.2403A>G (p.Gln801=)
n.340A>G
c.318A>G (p.Gln106=)
2g.27232171A>TCA346211894CADc.2592A>T (p.Gln864His)
c.2403A>T (p.Gln801His)
n.340A>T
c.318A>T (p.Gln106His)
2g.27232172C>ACA346211897CADc.2593C>A (p.Gln865Lys)
c.2404C>A (p.Gln802Lys)
n.341C>A
c.319C>A (p.Gln107Lys)
2g.27232172C>GCA346211900CADc.2593C>G (p.Gln865Glu)
c.2404C>G (p.Gln802Glu)
n.341C>G
c.319C>G (p.Gln107Glu)
2g.27232172C>TCA346211902CADc.2593C>T (p.Gln865Ter)
c.2404C>T (p.Gln802Ter)
n.341C>T
c.319C>T (p.Gln107Ter)
2g.27232173A=CA1240180318CADc.2594A= (p.Gln865=)
c.2405A= (p.Gln802=)
n.342A=
c.320A= (p.Gln107=)
2g.27232173A>CCA346211905CADc.2594A>C (p.Gln865Pro)
c.2405A>C (p.Gln802Pro)
n.342A>C
c.320A>C (p.Gln107Pro)
2g.27232173A>GCA44507280CADc.2594A>G (p.Gln865Arg)
c.2405A>G (p.Gln802Arg)
n.342A>G
c.320A>G (p.Gln107Arg)
 dbSNP
2g.27232173A>TCA346211908CADc.2594A>T (p.Gln865Leu)
c.2405A>T (p.Gln802Leu)
n.342A>T
c.320A>T (p.Gln107Leu)
 gnomAD v4
2g.27232174G>ACA425598741CADc.2595G>A (p.Gln865=)
c.2406G>A (p.Gln802=)
n.343G>A
c.321G>A (p.Gln107=)
 gnomAD v4
2g.27232174G>CCA346211911CADc.2595G>C (p.Gln865His)
c.2406G>C (p.Gln802His)
n.343G>C
c.321G>C (p.Gln107His)
2g.27232174G>TCA346211913CADc.2595G>T (p.Gln865His)
c.2406G>T (p.Gln802His)
n.343G>T
c.321G>T (p.Gln107His)
2g.27232175G>ACA346211916CADc.2596G>A (p.Ala866Thr)
c.2407G>A (p.Ala803Thr)
n.344G>A
c.322G>A (p.Ala108Thr)
2g.27232175G>CCA346211919CADc.2596G>C (p.Ala866Pro)
c.2407G>C (p.Ala803Pro)
n.344G>C
c.322G>C (p.Ala108Pro)
2g.27232175G=CA1240180319CADc.2596G= (p.Ala866=)
c.2407G= (p.Ala803=)
n.344G=
c.322G= (p.Ala108=)
2g.27232175G>TCA346211920CADc.2596G>T (p.Ala866Ser)
c.2407G>T (p.Ala803Ser)
n.344G>T
c.322G>T (p.Ala108Ser)
 dbSNP
2g.27232176C>ACA346211923CADc.2597C>A (p.Ala866Asp)
c.2408C>A (p.Ala803Asp)
n.345C>A
c.323C>A (p.Ala108Asp)
2g.27232176C>GCA346211926CADc.2597C>G (p.Ala866Gly)
c.2408C>G (p.Ala803Gly)
n.345C>G
c.323C>G (p.Ala108Gly)
 gnomAD v4
2g.27232176C>TCA346211928CADc.2597C>T (p.Ala866Val)
c.2408C>T (p.Ala803Val)
n.345C>T
c.323C>T (p.Ala108Val)
2g.27232177C>ACA425598742CADc.2598C>A (p.Ala866=)
c.2409C>A (p.Ala803=)
n.346C>A
c.324C>A (p.Ala108=)
2g.27232177C>GCA425598743CADc.2598C>G (p.Ala866=)
c.2409C>G (p.Ala803=)
n.346C>G
c.324C>G (p.Ala108=)
2g.27232177C>TCA425598744CADc.2598C>T (p.Ala866=)
c.2409C>T (p.Ala803=)
n.346C>T
c.324C>T (p.Ala108=)
2g.27232178A>CCA346211930CADc.2599A>C (p.Lys867Gln)
c.2410A>C (p.Lys804Gln)
n.347A>C
c.325A>C (p.Lys109Gln)
2g.27232178A>GCA346211932CADc.2599A>G (p.Lys867Glu)
c.2410A>G (p.Lys804Glu)
n.347A>G
c.325A>G (p.Lys109Glu)
2g.27232178A>TCA346211936CADc.2599A>T (p.Lys867Ter)
c.2410A>T (p.Lys804Ter)
n.347A>T
c.325A>T (p.Lys109Ter)
2g.27232179A>CCA346211940CADc.2600A>C (p.Lys867Thr)
c.2411A>C (p.Lys804Thr)
n.348A>C
c.326A>C (p.Lys109Thr)
2g.27232179A>GCA346211943CADc.2600A>G (p.Lys867Arg)
c.2411A>G (p.Lys804Arg)
n.348A>G
c.326A>G (p.Lys109Arg)
 COSMIC
2g.27232179A>TCA346211944CADc.2600A>T (p.Lys867Met)
c.2411A>T (p.Lys804Met)
n.348A>T
c.326A>T (p.Lys109Met)
2g.27232180G>ACA425598748CADc.2601G>A (p.Lys867=)
c.2412G>A (p.Lys804=)
n.349G>A
c.327G>A (p.Lys109=)
2g.27232180G>CCA346211947CADc.2601G>C (p.Lys867Asn)
c.2412G>C (p.Lys804Asn)
n.349G>C
c.327G>C (p.Lys109Asn)
2g.27232180G>TCA346211949CADc.2601G>T (p.Lys867Asn)
c.2412G>T (p.Lys804Asn)
n.349G>T
c.327G>T (p.Lys109Asn)
 gnomAD v4
2g.27232181T>ACA346211950CADc.2602T>A (p.Cys868Ser)
c.2413T>A (p.Cys805Ser)
n.350T>A
c.328T>A (p.Cys110Ser)
2g.27232181T>CCA346211953CADc.2602T>C (p.Cys868Arg)
c.2413T>C (p.Cys805Arg)
n.350T>C
c.328T>C (p.Cys110Arg)
2g.27232181T>GCA346211960CADc.2602T>G (p.Cys868Gly)
c.2413T>G (p.Cys805Gly)
n.350T>G
c.328T>G (p.Cys110Gly)
2g.27232182G>ACA346211965CADc.2603G>A (p.Cys868Tyr)
c.2414G>A (p.Cys805Tyr)
n.351G>A
c.329G>A (p.Cys110Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.27232182G>CCA346211967CADc.2603G>C (p.Cys868Ser)
c.2414G>C (p.Cys805Ser)
n.351G>C
c.329G>C (p.Cys110Ser)
2g.27232182G=CA1240180320CADc.2603G= (p.Cys868=)
c.2414G= (p.Cys805=)
n.351G=
c.329G= (p.Cys110=)
2g.27232182G>TCA346211968CADc.2603G>T (p.Cys868Phe)
c.2414G>T (p.Cys805Phe)
n.351G>T
c.329G>T (p.Cys110Phe)
2g.27232183T>ACA346211974CADc.2604T>A (p.Cys868Ter)
c.2415T>A (p.Cys805Ter)
n.352T>A
c.330T>A (p.Cys110Ter)
2g.27232183T>CCA425598752CADc.2604T>C (p.Cys868=)
c.2415T>C (p.Cys805=)
n.352T>C
c.330T>C (p.Cys110=)
 gnomAD v4
2g.27232183T>GCA346211971CADc.2604T>G (p.Cys868Trp)
c.2415T>G (p.Cys805Trp)
n.352T>G
c.330T>G (p.Cys110Trp)
2g.27232184C>ACA346211977CADc.2605C>A (p.Leu869Ile)
c.2416C>A (p.Leu806Ile)
n.353C>A
c.331C>A (p.Leu111Ile)
2g.27232184C>GCA346211980CADc.2605C>G (p.Leu869Val)
c.2416C>G (p.Leu806Val)
n.353C>G
c.331C>G (p.Leu111Val)
2g.27232184C>TCA346211982CADc.2605C>T (p.Leu869Phe)
c.2416C>T (p.Leu806Phe)
n.353C>T
c.331C>T (p.Leu111Phe)
2g.27232185T>ACA346211984CADc.2606T>A (p.Leu869His)
c.2417T>A (p.Leu806His)
n.354T>A
c.332T>A (p.Leu111His)
2g.27232185T>CCA346211987CADc.2606T>C (p.Leu869Pro)
c.2417T>C (p.Leu806Pro)
n.354T>C
c.332T>C (p.Leu111Pro)
2g.27232185T>GCA346211990CADc.2606T>G (p.Leu869Arg)
c.2417T>G (p.Leu806Arg)
n.354T>G
c.332T>G (p.Leu111Arg)
2g.27232186T>ACA425598756CADc.2607T>A (p.Leu869=)
c.2418T>A (p.Leu806=)
n.355T>A
c.333T>A (p.Leu111=)
 ClinVar dbSNP gnomAD v4
2g.27232186T>CCA425598757CADc.2607T>C (p.Leu869=)
c.2418T>C (p.Leu806=)
n.355T>C
c.333T>C (p.Leu111=)
2g.27232186T>GCA425598758CADc.2607T>G (p.Leu869=)
c.2418T>G (p.Leu806=)
n.355T>G
c.333T>G (p.Leu111=)
2g.27232186T=CA1240180321CADc.2607T= (p.Leu869=)
c.2418T= (p.Leu806=)
n.355T=
c.333T= (p.Leu111=)
2g.27232187G>ACA346211992CADc.2608G>A (p.Gly870Ser)
c.2419G>A (p.Gly807Ser)
n.356G>A
c.334G>A (p.Gly112Ser)
2g.27232187G>CCA346211996CADc.2608G>C (p.Gly870Arg)
c.2419G>C (p.Gly807Arg)
n.356G>C
c.334G>C (p.Gly112Arg)
2g.27232187G>TCA346211994CADc.2608G>T (p.Gly870Cys)
c.2419G>T (p.Gly807Cys)
n.356G>T
c.334G>T (p.Gly112Cys)
2g.27232188G>ACA346211999CADc.2609G>A (p.Gly870Asp)
c.2420G>A (p.Gly807Asp)
n.357G>A
c.335G>A (p.Gly112Asp)
2g.27232188G>CCA346212002CADc.2609G>C (p.Gly870Ala)
c.2420G>C (p.Gly807Ala)
n.357G>C
c.335G>C (p.Gly112Ala)
2g.27232188G>TCA346212004CADc.2609G>T (p.Gly870Val)
c.2420G>T (p.Gly807Val)
n.357G>T
c.335G>T (p.Gly112Val)
2g.27232189C>ACA425598762CADc.2610C>A (p.Gly870=)
c.2421C>A (p.Gly807=)
n.358C>A
c.336C>A (p.Gly112=)
2g.27232189C>GCA425598763CADc.2610C>G (p.Gly870=)
c.2421C>G (p.Gly807=)
n.358C>G
c.336C>G (p.Gly112=)
2g.27232189C>TCA425598764CADc.2610C>T (p.Gly870=)
c.2421C>T (p.Gly807=)
n.358C>T
c.336C>T (p.Gly112=)
2g.27232190T>ACA346212005CADc.2611T>A (p.Phe871Ile)
c.2422T>A (p.Phe808Ile)
n.359T>A
c.337T>A (p.Phe113Ile)
2g.27232190T>CCA346212009CADc.2611T>C (p.Phe871Leu)
c.2422T>C (p.Phe808Leu)
n.359T>C
c.337T>C (p.Phe113Leu)
 ClinVar dbSNP
2g.27232190T>GCA346212013CADc.2611T>G (p.Phe871Val)
c.2422T>G (p.Phe808Val)
n.359T>G
c.337T>G (p.Phe113Val)
2g.27232191T>ACA346212014CADc.2612T>A (p.Phe871Tyr)
c.2423T>A (p.Phe808Tyr)
n.360T>A
c.338T>A (p.Phe113Tyr)
2g.27232191T>CCA346212017CADc.2612T>C (p.Phe871Ser)
c.2423T>C (p.Phe808Ser)
n.360T>C
c.338T>C (p.Phe113Ser)
2g.27232191T>GCA346212021CADc.2612T>G (p.Phe871Cys)
c.2423T>G (p.Phe808Cys)
n.360T>G
c.338T>G (p.Phe113Cys)
2g.27232192C>ACA346212028CADc.2613C>A (p.Phe871Leu)
c.2424C>A (p.Phe808Leu)
n.361C>A
c.339C>A (p.Phe113Leu)
2g.27232192C>GCA346212029CADc.2613C>G (p.Phe871Leu)
c.2424C>G (p.Phe808Leu)
n.361C>G
c.339C>G (p.Phe113Leu)
2g.27232192C>TCA425598766CADc.2613C>T (p.Phe871=)
c.2424C>T (p.Phe808=)
n.361C>T
c.339C>T (p.Phe113=)
2g.27232193T>ACA346212032CADc.2614T>A (p.Ser872Thr)
c.2425T>A (p.Ser809Thr)
n.362T>A
c.340T>A (p.Ser114Thr)
2g.27232193T>CCA346212036CADc.2614T>C (p.Ser872Pro)
c.2425T>C (p.Ser809Pro)
n.362T>C
c.340T>C (p.Ser114Pro)
2g.27232193T>GCA346212034CADc.2614T>G (p.Ser872Ala)
c.2425T>G (p.Ser809Ala)
n.362T>G
c.340T>G (p.Ser114Ala)
2g.27232193_27232197delinsTCAGACA1240180322CADc.2614_2618delinsTCAGA (p.Ser872=)
c.2425_2429delinsTCAGA (p.Ser809=)
n.362_366delinsTCAGA
c.340_344delinsTCAGA (p.Ser114=)
2g.27232194C>ACA346212039CADc.2615C>A (p.Ser872Ter)
c.2426C>A (p.Ser809Ter)
n.363C>A
c.341C>A (p.Ser114Ter)
2g.27232194C>GCA346212044CADc.2615C>G (p.Ser872Ter)
c.2426C>G (p.Ser809Ter)
n.363C>G
c.341C>G (p.Ser114Ter)
2g.27232194C>TCA346212041CADc.2615C>T (p.Ser872Leu)
c.2426C>T (p.Ser809Leu)
n.363C>T
c.341C>T (p.Ser114Leu)
2g.27232196_27232199delCA645293935CADc.2617_2620del (p.Asp873AsnfsTer8)
c.2428_2431del (p.Asp810AsnfsTer8)
n.365_368del
c.343_346del (p.Asp115AsnfsTer8)
 ClinVar dbSNP gnomAD v4
2g.27232195A>CCA425598770CADc.2616A>C (p.Ser872=)
c.2427A>C (p.Ser809=)
n.364A>C
c.342A>C (p.Ser114=)
2g.27232195A>GCA425598771CADc.2616A>G (p.Ser872=)
c.2427A>G (p.Ser809=)
n.364A>G
c.342A>G (p.Ser114=)
2g.27232195A>TCA425598769CADc.2616A>T (p.Ser872=)
c.2427A>T (p.Ser809=)
n.364A>T
c.342A>T (p.Ser114=)
2g.27232196G>ACA346212047CADc.2617G>A (p.Asp873Asn)
c.2428G>A (p.Asp810Asn)
n.365G>A
c.343G>A (p.Asp115Asn)
2g.27232196G>CCA346212049CADc.2617G>C (p.Asp873His)
c.2428G>C (p.Asp810His)
n.365G>C
c.343G>C (p.Asp115His)
2g.27232196G>TCA346212052CADc.2617G>T (p.Asp873Tyr)
c.2428G>T (p.Asp810Tyr)
n.365G>T
c.343G>T (p.Asp115Tyr)
2g.27232197A>CCA346212056CADc.2618A>C (p.Asp873Ala)
c.2429A>C (p.Asp810Ala)
n.366A>C
c.344A>C (p.Asp115Ala)
2g.27232197A>GCA346212057CADc.2618A>G (p.Asp873Gly)
c.2429A>G (p.Asp810Gly)
n.366A>G
c.344A>G (p.Asp115Gly)
2g.27232197A>TCA346212059CADc.2618A>T (p.Asp873Val)
c.2429A>T (p.Asp810Val)
n.366A>T
c.344A>T (p.Asp115Val)
2g.27232200_27232203delCA2576939083CADc.2621_2624del (p.Lys874ArgfsTer7)
c.2432_2435del (p.Lys811ArgfsTer7)
n.369_372del
c.347_350del (p.Lys116ArgfsTer7)
2g.27232198C>ACA346212062CADc.2619C>A (p.Asp873Glu)
c.2430C>A (p.Asp810Glu)
n.367C>A
c.345C>A (p.Asp115Glu)
2g.27232198C=CA1240180323CADc.2619C= (p.Asp873=)
c.2430C= (p.Asp810=)
n.367C=
c.345C= (p.Asp115=)
2g.27232198C>GCA346212065CADc.2619C>G (p.Asp873Glu)
c.2430C>G (p.Asp810Glu)
n.367C>G
c.345C>G (p.Asp115Glu)
2g.27232198C>TCA1573051CADc.2619C>T (p.Asp873=)
c.2430C>T (p.Asp810=)
n.367C>T
c.345C>T (p.Asp115=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232199A>CCA346212071CADc.2620A>C (p.Lys874Gln)
c.2431A>C (p.Lys811Gln)
n.368A>C
c.346A>C (p.Lys116Gln)
2g.27232199A>GCA346212074CADc.2620A>G (p.Lys874Glu)
c.2431A>G (p.Lys811Glu)
n.368A>G
c.346A>G (p.Lys116Glu)
2g.27232199A>TCA346212077CADc.2620A>T (p.Lys874Ter)
c.2431A>T (p.Lys811Ter)
n.368A>T
c.346A>T (p.Lys116Ter)
2g.27232199_27232200insTCA2658308775CADc.2620_2621insT (p.Lys874IlefsTer?)
c.2431_2432insT (p.Lys811IlefsTer?)
n.368_369insT
c.346_347insT (p.Lys116IlefsTer?)
 gnomAD v4
2g.27232200A=CA1240180324CADc.2621A= (p.Lys874=)
c.2432A= (p.Lys811=)
n.369A=
c.347A= (p.Lys116=)
2g.27232200A>CCA346212085CADc.2621A>C (p.Lys874Thr)
c.2432A>C (p.Lys811Thr)
n.369A>C
c.347A>C (p.Lys116Thr)
2g.27232200A>GCA44507290CADc.2621A>G (p.Lys874Arg)
c.2432A>G (p.Lys811Arg)
n.369A>G
c.347A>G (p.Lys116Arg)
 dbSNP
2g.27232200A>TCA346212080CADc.2621A>T (p.Lys874Ile)
c.2432A>T (p.Lys811Ile)
n.369A>T
c.347A>T (p.Lys116Ile)
2g.27232201A>CCA346212088CADc.2622A>C (p.Lys874Asn)
c.2433A>C (p.Lys811Asn)
n.370A>C
c.348A>C (p.Lys116Asn)
2g.27232201A>GCA425598774CADc.2622A>G (p.Lys874=)
c.2433A>G (p.Lys811=)
n.370A>G
c.348A>G (p.Lys116=)
2g.27232201A>TCA346212090CADc.2622A>T (p.Lys874Asn)
c.2433A>T (p.Lys811Asn)
n.370A>T
c.348A>T (p.Lys116Asn)
2g.27232202C>ACA346212093CADc.2623C>A (p.Gln875Lys)
c.2434C>A (p.Gln812Lys)
n.371C>A
c.349C>A (p.Gln117Lys)
2g.27232202C=CA1240180325CADc.2623C= (p.Gln875=)
c.2434C= (p.Gln812=)
n.371C=
c.349C= (p.Gln117=)
2g.27232202C>GCA346212095CADc.2623C>G (p.Gln875Glu)
c.2434C>G (p.Gln812Glu)
n.371C>G
c.349C>G (p.Gln117Glu)
2g.27232202C>TCA346212098CADc.2623C>T (p.Gln875Ter)
c.2434C>T (p.Gln812Ter)
n.371C>T
c.349C>T (p.Gln117Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.27232203delCA2658308776CADc.2624del (p.Gln875ArgfsTer7)
c.2435del (p.Gln812ArgfsTer7)
n.372del
c.350del (p.Gln117ArgfsTer7)
 gnomAD v4
2g.27232203A>CCA346212100CADc.2624A>C (p.Gln875Pro)
c.2435A>C (p.Gln812Pro)
n.372A>C
c.350A>C (p.Gln117Pro)
2g.27232203A>GCA346212103CADc.2624A>G (p.Gln875Arg)
c.2435A>G (p.Gln812Arg)
n.372A>G
c.350A>G (p.Gln117Arg)
2g.27232203A>TCA346212104CADc.2624A>T (p.Gln875Leu)
c.2435A>T (p.Gln812Leu)
n.372A>T
c.350A>T (p.Gln117Leu)
2g.27232204G>ACA425598775CADc.2625G>A (p.Gln875=)
c.2436G>A (p.Gln812=)
n.373G>A
c.351G>A (p.Gln117=)
2g.27232204G>CCA346212106CADc.2625G>C (p.Gln875His)
c.2436G>C (p.Gln812His)
n.373G>C
c.351G>C (p.Gln117His)
2g.27232204G=CA1240180326CADc.2625G= (p.Gln875=)
c.2436G= (p.Gln812=)
n.373G=
c.351G= (p.Gln117=)
2g.27232204G>TCA346212108CADc.2625G>T (p.Gln875His)
c.2436G>T (p.Gln812His)
n.373G>T
c.351G>T (p.Gln117His)
 ClinVar dbSNP
2g.27232205A=CA1240180327CADc.2626A= (p.Ile876=)
c.2437A= (p.Ile813=)
n.374A=
c.352A= (p.Ile118=)
2g.27232205A>CCA346212110CADc.2626A>C (p.Ile876Leu)
c.2437A>C (p.Ile813Leu)
n.374A>C
c.352A>C (p.Ile118Leu)
2g.27232205A>GCA1573052CADc.2626A>G (p.Ile876Val)
c.2437A>G (p.Ile813Val)
n.374A>G
c.352A>G (p.Ile118Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232205A>TCA346212113CADc.2626A>T (p.Ile876Phe)
c.2437A>T (p.Ile813Phe)
n.374A>T
c.352A>T (p.Ile118Phe)
2g.27232206T>ACA346212117CADc.2627T>A (p.Ile876Asn)
c.2438T>A (p.Ile813Asn)
n.375T>A
c.353T>A (p.Ile118Asn)
2g.27232206T>CCA346212118CADc.2627T>C (p.Ile876Thr)
c.2438T>C (p.Ile813Thr)
n.375T>C
c.353T>C (p.Ile118Thr)
2g.27232206T>GCA346212115CADc.2627T>G (p.Ile876Ser)
c.2438T>G (p.Ile813Ser)
n.375T>G
c.353T>G (p.Ile118Ser)
2g.27232207T>ACA425598779CADc.2628T>A (p.Ile876=)
c.2439T>A (p.Ile813=)
n.376T>A
c.354T>A (p.Ile118=)
2g.27232207T>CCA425598780CADc.2628T>C (p.Ile876=)
c.2439T>C (p.Ile813=)
n.376T>C
c.354T>C (p.Ile118=)
2g.27232207T>GCA1573053CADc.2628T>G (p.Ile876Met)
c.2439T>G (p.Ile813Met)
n.376T>G
c.354T>G (p.Ile118Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27232207T=CA1240180328CADc.2628T= (p.Ile876=)
c.2439T= (p.Ile813=)
n.376T=
c.354T= (p.Ile118=)
2g.27232208G>ACA346212119CADc.2629G>A (p.Ala877Thr)
c.2440G>A (p.Ala814Thr)
n.377G>A
c.355G>A (p.Ala119Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.27232208G>CCA346212120CADc.2629G>C (p.Ala877Pro)
c.2440G>C (p.Ala814Pro)
n.377G>C
c.355G>C (p.Ala119Pro)
2g.27232208G=CA1240180329CADc.2629G= (p.Ala877=)
c.2440G= (p.Ala814=)
n.377G=
c.355G= (p.Ala119=)
2g.27232208G>TCA346212121CADc.2629G>T (p.Ala877Ser)
c.2440G>T (p.Ala814Ser)
n.377G>T
c.355G>T (p.Ala119Ser)
 ClinVar dbSNP gnomAD v4
2g.27232209C>ACA346212122CADc.2630C>A (p.Ala877Asp)
c.2441C>A (p.Ala814Asp)
n.378C>A
c.356C>A (p.Ala119Asp)
2g.27232209C>GCA346212123CADc.2630C>G (p.Ala877Gly)
c.2441C>G (p.Ala814Gly)
n.378C>G
c.356C>G (p.Ala119Gly)
2g.27232209C>TCA346212124CADc.2630C>T (p.Ala877Val)
c.2441C>T (p.Ala814Val)
n.378C>T
c.356C>T (p.Ala119Val)
2g.27232210C>ACA425598781CADc.2631C>A (p.Ala877=)
c.2442C>A (p.Ala814=)
n.379C>A
c.357C>A (p.Ala119=)
2g.27232210C=CA1240180330CADc.2631C= (p.Ala877=)
c.2442C= (p.Ala814=)
n.379C=
c.357C= (p.Ala119=)
2g.27232210C>GCA425598782CADc.2631C>G (p.Ala877=)
c.2442C>G (p.Ala814=)
n.379C>G
c.357C>G (p.Ala119=)
2g.27232210C>TCA425598783CADc.2631C>T (p.Ala877=)
c.2442C>T (p.Ala814=)
n.379C>T
c.357C>T (p.Ala119=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27232211C>ACA346212125CADc.2632C>A (p.Leu878Ile)
c.2443C>A (p.Leu815Ile)
n.380C>A
c.358C>A (p.Leu120Ile)
2g.27232211C>GCA346212126CADc.2632C>G (p.Leu878Val)
c.2443C>G (p.Leu815Val)
n.380C>G
c.358C>G (p.Leu120Val)
2g.27232211C>TCA346212127CADc.2632C>T (p.Leu878Phe)
c.2443C>T (p.Leu815Phe)
n.380C>T
c.358C>T (p.Leu120Phe)
 COSMIC
2g.27232212T>ACA346212128CADc.2633T>A (p.Leu878His)
c.2444T>A (p.Leu815His)
n.381T>A
c.359T>A (p.Leu120His)
2g.27232212T>CCA346212129CADc.2633T>C (p.Leu878Pro)
c.2444T>C (p.Leu815Pro)
n.381T>C
c.359T>C (p.Leu120Pro)
2g.27232212T>GCA346212130CADc.2633T>G (p.Leu878Arg)
c.2444T>G (p.Leu815Arg)
n.381T>G
c.359T>G (p.Leu120Arg)
2g.27232213delCA2580066267CADc.2634del (p.Ala879GlnfsTer3)
c.2445del (p.Ala816GlnfsTer3)
n.382del
c.360del (p.Ala121GlnfsTer3)
 ClinVar
2g.27232213T>ACA425598784CADc.2634T>A (p.Leu878=)
c.2445T>A (p.Leu815=)
n.382T>A
c.360T>A (p.Leu120=)
2g.27232213T>CCA425598785CADc.2634T>C (p.Leu878=)
c.2445T>C (p.Leu815=)
n.382T>C
c.360T>C (p.Leu120=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27232213T>GCA425598786CADc.2634T>G (p.Leu878=)
c.2445T>G (p.Leu815=)
n.382T>G
c.360T>G (p.Leu120=)
2g.27232213T=CA1240180331CADc.2634T= (p.Leu878=)
c.2445T= (p.Leu815=)
n.382T=
c.360T= (p.Leu120=)
2g.27232214G>ACA346212131CADc.2635G>A (p.Ala879Thr)
c.2446G>A (p.Ala816Thr)
n.383G>A
c.361G>A (p.Ala121Thr)
 gnomAD v4
2g.27232214G>CCA346212133CADc.2635G>C (p.Ala879Pro)
c.2446G>C (p.Ala816Pro)
n.383G>C
c.361G>C (p.Ala121Pro)
2g.27232214G>TCA346212132CADc.2635G>T (p.Ala879Ser)
c.2446G>T (p.Ala816Ser)
n.383G>T
c.361G>T (p.Ala121Ser)
2g.27232215C>ACA346212134CADc.2636C>A (p.Ala879Glu)
c.2447C>A (p.Ala816Glu)
n.384C>A
c.362C>A (p.Ala121Glu)
2g.27232215C=CA1240180332CADc.2636C= (p.Ala879=)
c.2447C= (p.Ala816=)
n.384C=
c.362C= (p.Ala121=)
2g.27232215C>GCA346212135CADc.2636C>G (p.Ala879Gly)
c.2447C>G (p.Ala816Gly)
n.384C>G
c.362C>G (p.Ala121Gly)
 gnomAD v4
2g.27232215C>TCA346212136CADc.2636C>T (p.Ala879Val)
c.2447C>T (p.Ala816Val)
n.384C>T
c.362C>T (p.Ala121Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27232216A=CA1240180333CADc.2637A= (p.Ala879=)
c.2448A= (p.Ala816=)
n.385A=
c.363A= (p.Ala121=)
2g.27232216A>CCA425598791CADc.2637A>C (p.Ala879=)
c.2448A>C (p.Ala816=)
n.385A>C
c.363A>C (p.Ala121=)
2g.27232216A>GCA44507293CADc.2637A>G (p.Ala879=)
c.2448A>G (p.Ala816=)
n.385A>G
c.363A>G (p.Ala121=)
 dbSNP gnomAD v4
2g.27232216A>TCA425598790CADc.2637A>T (p.Ala879=)
c.2448A>T (p.Ala816=)
n.385A>T
c.363A>T (p.Ala121=)
2g.27232217G>ACA1573054CADc.2638G>A (p.Val880Ile)
c.2449G>A (p.Val817Ile)
n.386G>A
c.364G>A (p.Val122Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232217G>CCA346212137CADc.2638G>C (p.Val880Leu)
c.2449G>C (p.Val817Leu)
n.386G>C
c.364G>C (p.Val122Leu)
 gnomAD v4
2g.27232217G=CA1240180334CADc.2638G= (p.Val880=)
c.2449G= (p.Val817=)
n.386G=
c.364G= (p.Val122=)
2g.27232217G>TCA346212138CADc.2638G>T (p.Val880Phe)
c.2449G>T (p.Val817Phe)
n.386G>T
c.364G>T (p.Val122Phe)
2g.27232218T>ACA346212139CADc.2639T>A (p.Val880Asp)
c.2450T>A (p.Val817Asp)
n.387T>A
c.365T>A (p.Val122Asp)
2g.27232218T>CCA346212140CADc.2639T>C (p.Val880Ala)
c.2450T>C (p.Val817Ala)
n.387T>C
c.365T>C (p.Val122Ala)
2g.27232218T>GCA346212141CADc.2639T>G (p.Val880Gly)
c.2450T>G (p.Val817Gly)
n.387T>G
c.365T>G (p.Val122Gly)
2g.27232219T>ACA425598793CADc.2640T>A (p.Val880=)
c.2451T>A (p.Val817=)
n.388T>A
c.366T>A (p.Val122=)
2g.27232219T>CCA425598794CADc.2640T>C (p.Val880=)
c.2451T>C (p.Val817=)
n.388T>C
c.366T>C (p.Val122=)
2g.27232219T>GCA425598795CADc.2640T>G (p.Val880=)
c.2451T>G (p.Val817=)
n.388T>G
c.366T>G (p.Val122=)
2g.27232220C>ACA346212143CADc.2641C>A (p.Leu881Met)
c.2452C>A (p.Leu818Met)
n.389C>A
c.367C>A (p.Leu123Met)
2g.27232220C>GCA346212142CADc.2641C>G (p.Leu881Val)
c.2452C>G (p.Leu818Val)
n.389C>G
c.367C>G (p.Leu123Val)
2g.27232220C>TCA425598796CADc.2641C>T (p.Leu881=)
c.2452C>T (p.Leu818=)
n.389C>T
c.367C>T (p.Leu123=)
2g.27232221T>ACA346212144CADc.2642T>A (p.Leu881Gln)
c.2453T>A (p.Leu818Gln)
n.390T>A
c.368T>A (p.Leu123Gln)
2g.27232221T>CCA346212146CADc.2642T>C (p.Leu881Pro)
c.2453T>C (p.Leu818Pro)
n.390T>C
c.368T>C (p.Leu123Pro)
2g.27232221T>GCA346212145CADc.2642T>G (p.Leu881Arg)
c.2453T>G (p.Leu818Arg)
n.390T>G
c.368T>G (p.Leu123Arg)
2g.27232222G>ACA425598800CADc.2643G>A (p.Leu881=)
c.2454G>A (p.Leu818=)
n.391G>A
c.369G>A (p.Leu123=)
2g.27232222G>CCA425598798CADc.2643G>C (p.Leu881=)
c.2454G>C (p.Leu818=)
n.391G>C
c.369G>C (p.Leu123=)
 gnomAD v4
2g.27232222G>TCA425598799CADc.2643G>T (p.Leu881=)
c.2454G>T (p.Leu818=)
n.391G>T
c.369G>T (p.Leu123=)
 COSMIC
2g.27232223A>CCA346212147CADc.2644A>C (p.Ser882Arg)
c.2455A>C (p.Ser819Arg)
n.392A>C
c.370A>C (p.Ser124Arg)
2g.27232223A>GCA346212149CADc.2644A>G (p.Ser882Gly)
c.2455A>G (p.Ser819Gly)
n.392A>G
c.370A>G (p.Ser124Gly)
2g.27232223A>TCA346212151CADc.2644A>T (p.Ser882Cys)
c.2455A>T (p.Ser819Cys)
n.392A>T
c.370A>T (p.Ser124Cys)
2g.27232224G>ACA346212153CADc.2645G>A (p.Ser882Asn)
c.2456G>A (p.Ser819Asn)
n.393G>A
c.371G>A (p.Ser124Asn)
2g.27232224G>CCA346212154CADc.2645G>C (p.Ser882Thr)
c.2456G>C (p.Ser819Thr)
n.393G>C
c.371G>C (p.Ser124Thr)
2g.27232224G>TCA346212156CADc.2645G>T (p.Ser882Ile)
c.2456G>T (p.Ser819Ile)
n.393G>T
c.371G>T (p.Ser124Ile)
2g.27232225G>ACA346212158CADc.2645+1G>A (n.2645+1G>A)
c.2456+1G>A (n.2456+1G>A)
n.393+1G>A
c.371+1G>A (n.371+1G>A)
2g.27232225G>CCA346212160CADc.2645+1G>C (n.2645+1G>C)
c.2456+1G>C (n.2456+1G>C)
n.393+1G>C
c.371+1G>C (n.371+1G>C)
2g.27232225G>TCA346212162CADc.2645+1G>T (n.2645+1G>T)
c.2456+1G>T (n.2456+1G>T)
n.393+1G>T
c.371+1G>T (n.371+1G>T)
2g.27232226T>ACA346212164CADc.2645+2T>A (n.2645+2T>A)
c.2456+2T>A (n.2456+2T>A)
n.393+2T>A
c.371+2T>A (n.371+2T>A)
2g.27232226T>CCA346212166CADc.2645+2T>C (n.2645+2T>C)
c.2456+2T>C (n.2456+2T>C)
n.393+2T>C
c.371+2T>C (n.371+2T>C)
2g.27232226T>GCA346212168CADc.2645+2T>G (n.2645+2T>G)
c.2456+2T>G (n.2456+2T>G)
n.393+2T>G
c.371+2T>G (n.371+2T>G)
2g.27232227C>TCA2573134400CADc.2645+3C>T (n.2645+3C>T)
c.2456+3C>T (n.2456+3C>T)
n.393+3C>T
c.371+3C>T (n.371+3C>T)
 ClinVar dbSNP gnomAD v4
2g.27232228A>GCA2658308799CADc.2645+4A>G (n.2645+4A>G)
c.2456+4A>G (n.2456+4A>G)
n.393+4A>G
c.371+4A>G (n.371+4A>G)
 gnomAD v4
2g.27232232G>ACA1573055CADc.2645+8G>A (n.2645+8G>A)
c.2456+8G>A (n.2456+8G>A)
n.393+8G>A
c.371+8G>A (n.371+8G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27232232G=CA1240180335CADc.2645+8G= (n.2645+8G=)
c.2456+8G= (n.2456+8G=)
n.393+8G=
c.371+8G= (n.371+8G=)
2g.27232233T>GCA2698929315CADc.2645+9T>G (n.2645+9T>G)
c.2456+9T>G (n.2456+9T>G)
n.393+9T>G
c.371+9T>G (n.371+9T>G)
 dbSNP
2g.27232234G>ACA2658308802CADc.2645+10G>A (n.2645+10G>A)
c.2456+10G>A (n.2456+10G>A)
n.393+10G>A
c.371+10G>A (n.371+10G>A)
 gnomAD v4
2g.27232235G>ACA2658308804CADc.2645+11G>A (n.2645+11G>A)
c.2456+11G>A (n.2456+11G>A)
n.393+11G>A
c.371+11G>A (n.371+11G>A)
 gnomAD v4
2g.27232236C=CA1240180336CADc.2645+12C= (n.2645+12C=)
c.2456+12C= (n.2456+12C=)
n.393+12C=
c.371+12C= (n.371+12C=)
2g.27232236C>GCA1028663450CADc.2645+12C>G (n.2645+12C>G)
c.2456+12C>G (n.2456+12C>G)
n.393+12C>G
c.371+12C>G (n.371+12C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27232237A=CA1240180337CADc.2645+13A= (n.2645+13A=)
c.2456+13A= (n.2456+13A=)
n.393+13A=
c.371+13A= (n.371+13A=)
2g.27232237A>GCA1240180338CADc.2645+13A>G (n.2645+13A>G)
c.2456+13A>G (n.2456+13A>G)
n.393+13A>G
c.371+13A>G (n.371+13A>G)
 dbSNP
2g.27232238A=CA1240180339CADc.2645+14A= (n.2645+14A=)
c.2456+14A= (n.2456+14A=)
n.393+14A=
c.371+14A= (n.371+14A=)
2g.27232238A>GCA1573056CADc.2645+14A>G (n.2645+14A>G)
c.2456+14A>G (n.2456+14A>G)
n.393+14A>G
c.371+14A>G (n.371+14A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232239T>CCA2658308807CADc.2645+15T>C (n.2645+15T>C)
c.2456+15T>C (n.2456+15T>C)
n.393+15T>C
c.371+15T>C (n.371+15T>C)
 gnomAD v4
2g.27232241A>GCA2658308809CADc.2645+17A>G (n.2645+17A>G)
c.2456+17A>G (n.2456+17A>G)
n.393+17A>G
c.371+17A>G (n.371+17A>G)
 gnomAD v4
2g.27232244G>ACA531763563CADc.2645+20G>A (n.2645+20G>A)
c.2456+20G>A (n.2456+20G>A)
n.393+20G>A
c.371+20G>A (n.371+20G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27232244G=CA1240180340CADc.2645+20G= (n.2645+20G=)
c.2456+20G= (n.2456+20G=)
n.393+20G=
c.371+20G= (n.371+20G=)
2g.27232245_27232246delinsCTCA1240180341CADc.2645+21_2645+22delinsCT (n.2645+21_2645+22delinsCT)
c.2456+21_2456+22delinsCT (n.2456+21_2456+22delinsCT)
n.393+21_393+22delinsCT
c.371+21_371+22delinsCT (n.371+21_371+22delinsCT)
2g.27232246T>ACA531763564CADc.2645+22T>A (n.2645+22T>A)
c.2456+22T>A (n.2456+22T>A)
n.393+22T>A
c.371+22T>A (n.371+22T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27232246T>CCA531763565CADc.2645+22T>C (n.2645+22T>C)
c.2456+22T>C (n.2456+22T>C)
n.393+22T>C
c.371+22T>C (n.371+22T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.27232246T>GCA1573058CADc.2645+22T>G (n.2645+22T>G)
c.2456+22T>G (n.2456+22T>G)
n.393+22T>G
c.371+22T>G (n.371+22T>G)
 dbSNP ExAC
2g.27232246T=CA1240180342CADc.2645+22T= (n.2645+22T=)
c.2456+22T= (n.2456+22T=)
n.393+22T=
c.371+22T= (n.371+22T=)
2g.27232247delCA1573057CADc.2645+23del (n.2645+23del)
c.2456+23del (n.2456+23del)
n.393+23del
c.371+23del (n.371+23del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232248C>TCA2528899110CADc.2645+24C>T (n.2645+24C>T)
c.2456+24C>T (n.2456+24C>T)
n.393+24C>T
c.371+24C>T (n.371+24C>T)
2g.27232249C>ACA531763566CADc.2645+25C>A (n.2645+25C>A)
c.2456+25C>A (n.2456+25C>A)
n.393+25C>A
c.371+25C>A (n.371+25C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.27232249C=CA1240180343CADc.2645+25C= (n.2645+25C=)
c.2456+25C= (n.2456+25C=)
n.393+25C=
c.371+25C= (n.371+25C=)
2g.27232249C>TCA1573059CADc.2645+25C>T (n.2645+25C>T)
c.2456+25C>T (n.2456+25C>T)
n.393+25C>T
c.371+25C>T (n.371+25C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232250G>ACA1573060CADc.2645+26G>A (n.2645+26G>A)
c.2456+26G>A (n.2456+26G>A)
n.393+26G>A
c.371+26G>A (n.371+26G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232250G>CCA2658308821CADc.2645+26G>C (n.2645+26G>C)
c.2456+26G>C (n.2456+26G>C)
n.393+26G>C
c.371+26G>C (n.371+26G>C)
 gnomAD v4
2g.27232250G=CA1240180344CADc.2645+26G= (n.2645+26G=)
c.2456+26G= (n.2456+26G=)
n.393+26G=
c.371+26G= (n.371+26G=)
2g.27232251G>TCA2658308824CADc.2645+27G>T (n.2645+27G>T)
c.2456+27G>T (n.2456+27G>T)
n.393+27G>T
c.371+27G>T (n.371+27G>T)
 gnomAD v4
2g.27232254G>ACA2658308825CADc.2645+30G>A (n.2645+30G>A)
c.2456+30G>A (n.2456+30G>A)
n.393+30G>A
c.371+30G>A (n.371+30G>A)
 gnomAD v4
2g.27232258A=CA1240180345CADc.2645+34A= (n.2645+34A=)
c.2456+34A= (n.2456+34A=)
n.393+34A=
c.371+34A= (n.371+34A=)
2g.27232258A>GCA1573061CADc.2645+34A>G (n.2645+34A>G)
c.2456+34A>G (n.2456+34A>G)
n.393+34A>G
c.371+34A>G (n.371+34A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27232260T>CCA767356444CADc.2645+36T>C (n.2645+36T>C)
c.2456+36T>C (n.2456+36T>C)
n.393+36T>C
c.371+36T>C (n.371+36T>C)
 dbSNP gnomAD v4
2g.27232260T=CA1240180346CADc.2645+36T= (n.2645+36T=)
c.2456+36T= (n.2456+36T=)
n.393+36T=
c.371+36T= (n.371+36T=)
2g.27232261G=CA1240180347CADc.2645+37G= (n.2645+37G=)
c.2456+37G= (n.2456+37G=)
n.393+37G=
c.371+37G= (n.371+37G=)
2g.27232261G>TCA1573062CADc.2645+37G>T (n.2645+37G>T)
c.2456+37G>T (n.2456+37G>T)
n.393+37G>T
c.371+37G>T (n.371+37G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27232262delCA2576939084CADc.2645+38del (n.2645+38del)
c.2456+38del (n.2456+38del)
n.393+38del
c.371+38del (n.371+38del)
2g.27232262T>CCA2658308833CADc.2645+38T>C (n.2645+38T>C)
c.2456+38T>C (n.2456+38T>C)
n.393+38T>C
c.371+38T>C (n.371+38T>C)
 gnomAD v4
2g.27232264G>ACA2658308835CADc.2645+40G>A (n.2645+40G>A)
c.2456+40G>A (n.2456+40G>A)
n.393+40G>A
c.371+40G>A (n.371+40G>A)
 gnomAD v4
2g.27232267C>ACA2658308836CADc.2645+43C>A (n.2645+43C>A)
c.2456+43C>A (n.2456+43C>A)
n.393+43C>A
c.371+43C>A (n.371+43C>A)
 gnomAD v4
2g.27232268A>GCA2576939085CADc.2645+44A>G (n.2645+44A>G)
c.2456+44A>G (n.2456+44A>G)
n.393+44A>G
c.371+44A>G (n.371+44A>G)

Number of alleles fetched