Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.91272632_91272633delCA919477247CCDC88Cc.6085_6086del (p.Ter2029ThrextTer10)
c.1519_1520del (p.Ter507ThrextTer10)
c.2313_2314del
c.5977_5978del (p.Ter1993ThrextTer10)
c.3166_3167del (p.Ter1056ThrextTer10)
 dbSNP gnomAD v4
14g.91272632C>ACA390607917CCDC88Cc.6080G>T (p.Cys2027Phe)
c.1514G>T (p.Cys505Phe)
c.2308G>T
c.5972G>T (p.Cys1991Phe)
c.3161G>T (p.Cys1054Phe)
 dbSNP
14g.91272632C=CA2154899936CCDC88Cc.6080G= (p.Cys2027=)
c.1514G= (p.Cys505=)
c.2308G=
c.5972G= (p.Cys1991=)
c.3161G= (p.Cys1054=)
14g.91272632C>GCA390607918CCDC88Cc.6080G>C (p.Cys2027Ser)
c.1514G>C (p.Cys505Ser)
c.2308G>C
c.5972G>C (p.Cys1991Ser)
c.3161G>C (p.Cys1054Ser)
 dbSNP
14g.91272632C>TCA390607919CCDC88Cc.6080G>A (p.Cys2027Tyr)
c.1514G>A (p.Cys505Tyr)
c.2308G>A
c.5972G>A (p.Cys1991Tyr)
c.3161G>A (p.Cys1054Tyr)
 dbSNP gnomAD v2 gnomAD v4
14g.91272633A=CA2154899939CCDC88Cc.6079T= (p.Cys2027=)
c.1513T= (p.Cys505=)
c.2307T=
c.5971T= (p.Cys1991=)
c.3160T= (p.Cys1054=)
14g.91272633A>CCA390607920CCDC88Cc.6079T>G (p.Cys2027Gly)
c.1513T>G (p.Cys505Gly)
c.2307T>G
c.5971T>G (p.Cys1991Gly)
c.3160T>G (p.Cys1054Gly)
14g.91272633A>GCA7308508CCDC88Cc.6079T>C (p.Cys2027Arg)
c.1513T>C (p.Cys505Arg)
c.2307T>C
c.5971T>C (p.Cys1991Arg)
c.3160T>C (p.Cys1054Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272633A>TCA390607921CCDC88Cc.6079T>A (p.Cys2027Ser)
c.1513T>A (p.Cys505Ser)
c.2307T>A
c.5971T>A (p.Cys1991Ser)
c.3160T>A (p.Cys1054Ser)
14g.91272634G>ACA7308509CCDC88Cc.6078C>T (p.Gly2026=)
c.1512C>T (p.Gly504=)
c.2306C>T
c.5970C>T (p.Gly1990=)
c.3159C>T (p.Gly1053=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272634G>CCA487828428CCDC88Cc.6078C>G (p.Gly2026=)
c.1512C>G (p.Gly504=)
c.2306C>G
c.5970C>G (p.Gly1990=)
c.3159C>G (p.Gly1053=)
14g.91272634G=CA2154899944CCDC88Cc.6078C= (p.Gly2026=)
c.1512C= (p.Gly504=)
c.2306C=
c.5970C= (p.Gly1990=)
c.3159C= (p.Gly1053=)
14g.91272634G>TCA487828429CCDC88Cc.6078C>A (p.Gly2026=)
c.1512C>A (p.Gly504=)
c.2306C>A
c.5970C>A (p.Gly1990=)
c.3159C>A (p.Gly1053=)
14g.91272635C>ACA390607922CCDC88Cc.6077G>T (p.Gly2026Val)
c.1511G>T (p.Gly504Val)
c.2305G>T
c.5969G>T (p.Gly1990Val)
c.3158G>T (p.Gly1053Val)
 dbSNP gnomAD v4
14g.91272635C=CA2154899946CCDC88Cc.6077G= (p.Gly2026=)
c.1511G= (p.Gly504=)
c.2305G=
c.5969G= (p.Gly1990=)
c.3158G= (p.Gly1053=)
14g.91272635C>GCA390607923CCDC88Cc.6077G>C (p.Gly2026Ala)
c.1511G>C (p.Gly504Ala)
c.2305G>C
c.5969G>C (p.Gly1990Ala)
c.3158G>C (p.Gly1053Ala)
14g.91272635C>TCA390607924CCDC88Cc.6077G>A (p.Gly2026Asp)
c.1511G>A (p.Gly504Asp)
c.2305G>A
c.5969G>A (p.Gly1990Asp)
c.3158G>A (p.Gly1053Asp)
 gnomAD v4
14g.91272636C>ACA390607925CCDC88Cc.6076G>T (p.Gly2026Cys)
c.1510G>T (p.Gly504Cys)
c.2304G>T
c.5968G>T (p.Gly1990Cys)
c.3157G>T (p.Gly1053Cys)
 gnomAD v4
14g.91272636C=CA2154899949CCDC88Cc.6076G= (p.Gly2026=)
c.1510G= (p.Gly504=)
c.2304G=
c.5968G= (p.Gly1990=)
c.3157G= (p.Gly1053=)
14g.91272636C>GCA390607926CCDC88Cc.6076G>C (p.Gly2026Arg)
c.1510G>C (p.Gly504Arg)
c.2304G>C
c.5968G>C (p.Gly1990Arg)
c.3157G>C (p.Gly1053Arg)
14g.91272636C>TCA7308510CCDC88Cc.6076G>A (p.Gly2026Ser)
c.1510G>A (p.Gly504Ser)
c.2304G>A
c.5968G>A (p.Gly1990Ser)
c.3157G>A (p.Gly1053Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272637G>ACA7308511CCDC88Cc.6075C>T (p.Tyr2025=)
c.1509C>T (p.Tyr503=)
c.2303C>T
c.5967C>T (p.Tyr1989=)
c.3156C>T (p.Tyr1052=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272637G>CCA390607928CCDC88Cc.6075C>G (p.Tyr2025Ter)
c.1509C>G (p.Tyr503Ter)
c.2303C>G
c.5967C>G (p.Tyr1989Ter)
c.3156C>G (p.Tyr1052Ter)
 gnomAD v4
14g.91272637G=CA2154899953CCDC88Cc.6075C= (p.Tyr2025=)
c.1509C= (p.Tyr503=)
c.2303C=
c.5967C= (p.Tyr1989=)
c.3156C= (p.Tyr1052=)
14g.91272637G>TCA390607927CCDC88Cc.6075C>A (p.Tyr2025Ter)
c.1509C>A (p.Tyr503Ter)
c.2303C>A
c.5967C>A (p.Tyr1989Ter)
c.3156C>A (p.Tyr1052Ter)
 gnomAD v4
14g.91272638T>ACA390607931CCDC88Cc.6074A>T (p.Tyr2025Phe)
c.1508A>T (p.Tyr503Phe)
c.2302A>T
c.5966A>T (p.Tyr1989Phe)
c.3155A>T (p.Tyr1052Phe)
14g.91272638T>CCA390607929CCDC88Cc.6074A>G (p.Tyr2025Cys)
c.1508A>G (p.Tyr503Cys)
c.2302A>G
c.5966A>G (p.Tyr1989Cys)
c.3155A>G (p.Tyr1052Cys)
14g.91272638T>GCA390607930CCDC88Cc.6074A>C (p.Tyr2025Ser)
c.1508A>C (p.Tyr503Ser)
c.2302A>C
c.5966A>C (p.Tyr1989Ser)
c.3155A>C (p.Tyr1052Ser)
14g.91272639A>CCA390607932CCDC88Cc.6073T>G (p.Tyr2025Asp)
c.1507T>G (p.Tyr503Asp)
c.2301T>G
c.5965T>G (p.Tyr1989Asp)
c.3154T>G (p.Tyr1052Asp)
14g.91272639A>GCA390607933CCDC88Cc.6073T>C (p.Tyr2025His)
c.1507T>C (p.Tyr503His)
c.2301T>C
c.5965T>C (p.Tyr1989His)
c.3154T>C (p.Tyr1052His)
14g.91272639A>TCA390607934CCDC88Cc.6073T>A (p.Tyr2025Asn)
c.1507T>A (p.Tyr503Asn)
c.2301T>A
c.5965T>A (p.Tyr1989Asn)
c.3154T>A (p.Tyr1052Asn)
14g.91272640C>ACA390607935CCDC88Cc.6072G>T (p.Glu2024Asp)
c.1506G>T (p.Glu502Asp)
c.2300G>T
c.5964G>T (p.Glu1988Asp)
c.3153G>T (p.Glu1051Asp)
14g.91272640C=CA2154899956CCDC88Cc.6072G= (p.Glu2024=)
c.1506G= (p.Glu502=)
c.2300G=
c.5964G= (p.Glu1988=)
c.3153G= (p.Glu1051=)
14g.91272640C>GCA390607936CCDC88Cc.6072G>C (p.Glu2024Asp)
c.1506G>C (p.Glu502Asp)
c.2300G>C
c.5964G>C (p.Glu1988Asp)
c.3153G>C (p.Glu1051Asp)
14g.91272640C>TCA487828443CCDC88Cc.6072G>A (p.Glu2024=)
c.1506G>A (p.Glu502=)
c.2300G>A
c.5964G>A (p.Glu1988=)
c.3153G>A (p.Glu1051=)
 dbSNP gnomAD v2
14g.91272640dupCA2626127136CCDC88Cc.6072dup (p.Tyr2025ValfsTer15)
c.1506dup (p.Tyr503ValfsTer15)
c.2300dup
c.5964dup (p.Tyr1989ValfsTer15)
c.3153dup (p.Tyr1052ValfsTer15)
 gnomAD v4
14g.91272641T>ACA390607937CCDC88Cc.6071A>T (p.Glu2024Val)
c.1505A>T (p.Glu502Val)
c.2299A>T
c.5963A>T (p.Glu1988Val)
c.3152A>T (p.Glu1051Val)
14g.91272641T>CCA390607938CCDC88Cc.6071A>G (p.Glu2024Gly)
c.1505A>G (p.Glu502Gly)
c.2299A>G
c.5963A>G (p.Glu1988Gly)
c.3152A>G (p.Glu1051Gly)
14g.91272641T>GCA390607939CCDC88Cc.6071A>C (p.Glu2024Ala)
c.1505A>C (p.Glu502Ala)
c.2299A>C
c.5963A>C (p.Glu1988Ala)
c.3152A>C (p.Glu1051Ala)
14g.91272641_91272642insATCA2154899959CCDC88Cc.6071_6072insTA (p.Glu2024AspfsTer?)
c.1505_1506insTA (p.Glu502AspfsTer?)
c.2299_2300insTA
c.5963_5964insTA (p.Glu1988AspfsTer?)
c.3152_3153insTA (p.Glu1051AspfsTer?)
 dbSNP
14g.91272642C>ACA390607940CCDC88Cc.6070G>T (p.Glu2024Ter)
c.1504G>T (p.Glu502Ter)
c.2298G>T
c.5962G>T (p.Glu1988Ter)
c.3151G>T (p.Glu1051Ter)
14g.91272642C>GCA390607941CCDC88Cc.6070G>C (p.Glu2024Gln)
c.1504G>C (p.Glu502Gln)
c.2298G>C
c.5962G>C (p.Glu1988Gln)
c.3151G>C (p.Glu1051Gln)
14g.91272642C>TCA390607942CCDC88Cc.6070G>A (p.Glu2024Lys)
c.1504G>A (p.Glu502Lys)
c.2298G>A
c.5962G>A (p.Glu1988Lys)
c.3151G>A (p.Glu1051Lys)
14g.91272643A=CA2154899961CCDC88Cc.6069T= (p.Tyr2023=)
c.1503T= (p.Tyr501=)
c.2297T=
c.5961T= (p.Tyr1987=)
c.3150T= (p.Tyr1050=)
14g.91272643A>CCA390607943CCDC88Cc.6069T>G (p.Tyr2023Ter)
c.1503T>G (p.Tyr501Ter)
c.2297T>G
c.5961T>G (p.Tyr1987Ter)
c.3150T>G (p.Tyr1050Ter)
14g.91272643A>GCA487828445CCDC88Cc.6069T>C (p.Tyr2023=)
c.1503T>C (p.Tyr501=)
c.2297T>C
c.5961T>C (p.Tyr1987=)
c.3150T>C (p.Tyr1050=)
 dbSNP
14g.91272643A>TCA390607944CCDC88Cc.6069T>A (p.Tyr2023Ter)
c.1503T>A (p.Tyr501Ter)
c.2297T>A
c.5961T>A (p.Tyr1987Ter)
c.3150T>A (p.Tyr1050Ter)
14g.91272644T>ACA390607945CCDC88Cc.6068A>T (p.Tyr2023Phe)
c.1502A>T (p.Tyr501Phe)
c.2296A>T
c.5960A>T (p.Tyr1987Phe)
c.3149A>T (p.Tyr1050Phe)
14g.91272644T>CCA390607946CCDC88Cc.6068A>G (p.Tyr2023Cys)
c.1502A>G (p.Tyr501Cys)
c.2296A>G
c.5960A>G (p.Tyr1987Cys)
c.3149A>G (p.Tyr1050Cys)
 gnomAD v4
14g.91272644T>GCA390607947CCDC88Cc.6068A>C (p.Tyr2023Ser)
c.1502A>C (p.Tyr501Ser)
c.2296A>C
c.5960A>C (p.Tyr1987Ser)
c.3149A>C (p.Tyr1050Ser)
14g.91272645A>CCA390607948CCDC88Cc.6067T>G (p.Tyr2023Asp)
c.1501T>G (p.Tyr501Asp)
c.2295T>G
c.5959T>G (p.Tyr1987Asp)
c.3148T>G (p.Tyr1050Asp)
14g.91272645A>GCA390607949CCDC88Cc.6067T>C (p.Tyr2023His)
c.1501T>C (p.Tyr501His)
c.2295T>C
c.5959T>C (p.Tyr1987His)
c.3148T>C (p.Tyr1050His)
 gnomAD v4
14g.91272645A>TCA390607950CCDC88Cc.6067T>A (p.Tyr2023Asn)
c.1501T>A (p.Tyr501Asn)
c.2295T>A
c.5959T>A (p.Tyr1987Asn)
c.3148T>A (p.Tyr1050Asn)
14g.91272646C>ACA390607951CCDC88Cc.6066G>T (p.Trp2022Cys)
c.1500G>T (p.Trp500Cys)
c.2294G>T
c.5958G>T (p.Trp1986Cys)
c.3147G>T (p.Trp1049Cys)
14g.91272646C>GCA390607952CCDC88Cc.6066G>C (p.Trp2022Cys)
c.1500G>C (p.Trp500Cys)
c.2294G>C
c.5958G>C (p.Trp1986Cys)
c.3147G>C (p.Trp1049Cys)
14g.91272646C>TCA390607953CCDC88Cc.6066G>A (p.Trp2022Ter)
c.1500G>A (p.Trp500Ter)
c.2294G>A
c.5958G>A (p.Trp1986Ter)
c.3147G>A (p.Trp1049Ter)
 gnomAD v4
14g.91272647C>ACA390607954CCDC88Cc.6065G>T (p.Trp2022Leu)
c.1499G>T (p.Trp500Leu)
c.2293G>T
c.5957G>T (p.Trp1986Leu)
c.3146G>T (p.Trp1049Leu)
14g.91272647C>GCA390607955CCDC88Cc.6065G>C (p.Trp2022Ser)
c.1499G>C (p.Trp500Ser)
c.2293G>C
c.5957G>C (p.Trp1986Ser)
c.3146G>C (p.Trp1049Ser)
14g.91272647C>TCA390607956CCDC88Cc.6065G>A (p.Trp2022Ter)
c.1499G>A (p.Trp500Ter)
c.2293G>A
c.5957G>A (p.Trp1986Ter)
c.3146G>A (p.Trp1049Ter)
 gnomAD v4
14g.91272648A>CCA390607958CCDC88Cc.6064T>G (p.Trp2022Gly)
c.1498T>G (p.Trp500Gly)
c.2292T>G
c.5956T>G (p.Trp1986Gly)
c.3145T>G (p.Trp1049Gly)
14g.91272648A>GCA390607959CCDC88Cc.6064T>C (p.Trp2022Arg)
c.1498T>C (p.Trp500Arg)
c.2292T>C
c.5956T>C (p.Trp1986Arg)
c.3145T>C (p.Trp1049Arg)
14g.91272648A>TCA390607957CCDC88Cc.6064T>A (p.Trp2022Arg)
c.1498T>A (p.Trp500Arg)
c.2292T>A
c.5956T>A (p.Trp1986Arg)
c.3145T>A (p.Trp1049Arg)
14g.91272649C>ACA487828450CCDC88Cc.6063G>T (p.Val2021=)
c.1497G>T (p.Val499=)
c.2291G>T
c.5955G>T (p.Val1985=)
c.3144G>T (p.Val1048=)
 gnomAD v4
14g.91272649C>GCA487828451CCDC88Cc.6063G>C (p.Val2021=)
c.1497G>C (p.Val499=)
c.2291G>C
c.5955G>C (p.Val1985=)
c.3144G>C (p.Val1048=)
14g.91272649C>TCA487828452CCDC88Cc.6063G>A (p.Val2021=)
c.1497G>A (p.Val499=)
c.2291G>A
c.5955G>A (p.Val1985=)
c.3144G>A (p.Val1048=)
 gnomAD v4
14g.91272650A=CA2154899964CCDC88Cc.6062T= (p.Val2021=)
c.1496T= (p.Val499=)
c.2290T=
c.5954T= (p.Val1985=)
c.3143T= (p.Val1048=)
14g.91272650A>CCA390607960CCDC88Cc.6062T>G (p.Val2021Gly)
c.1496T>G (p.Val499Gly)
c.2290T>G
c.5954T>G (p.Val1985Gly)
c.3143T>G (p.Val1048Gly)
14g.91272650A>GCA265516934CCDC88Cc.6062T>C (p.Val2021Ala)
c.1496T>C (p.Val499Ala)
c.2290T>C
c.5954T>C (p.Val1985Ala)
c.3143T>C (p.Val1048Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272650A>TCA390607961CCDC88Cc.6062T>A (p.Val2021Glu)
c.1496T>A (p.Val499Glu)
c.2290T>A
c.5954T>A (p.Val1985Glu)
c.3143T>A (p.Val1048Glu)
14g.91272651C>ACA390607962CCDC88Cc.6061G>T (p.Val2021Leu)
c.1495G>T (p.Val499Leu)
c.2289G>T
c.5953G>T (p.Val1985Leu)
c.3142G>T (p.Val1048Leu)
 gnomAD v4
14g.91272651C=CA2154899968CCDC88Cc.6061G= (p.Val2021=)
c.1495G= (p.Val499=)
c.2289G=
c.5953G= (p.Val1985=)
c.3142G= (p.Val1048=)
14g.91272651C>GCA390607963CCDC88Cc.6061G>C (p.Val2021Leu)
c.1495G>C (p.Val499Leu)
c.2289G>C
c.5953G>C (p.Val1985Leu)
c.3142G>C (p.Val1048Leu)
 dbSNP
14g.91272651C>TCA7308512CCDC88Cc.6061G>A (p.Val2021Met)
c.1495G>A (p.Val499Met)
c.2289G>A
c.5953G>A (p.Val1985Met)
c.3142G>A (p.Val1048Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272652G>ACA7308513CCDC88Cc.6060C>T (p.Thr2020=)
c.1494C>T (p.Thr498=)
c.2288C>T
c.5952C>T (p.Thr1984=)
c.3141C>T (p.Thr1047=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272652G>CCA487828455CCDC88Cc.6060C>G (p.Thr2020=)
c.1494C>G (p.Thr498=)
c.2288C>G
c.5952C>G (p.Thr1984=)
c.3141C>G (p.Thr1047=)
 dbSNP gnomAD v2 gnomAD v4
14g.91272652G=CA2154899971CCDC88Cc.6060C= (p.Thr2020=)
c.1494C= (p.Thr498=)
c.2288C=
c.5952C= (p.Thr1984=)
c.3141C= (p.Thr1047=)
14g.91272652G>TCA487828456CCDC88Cc.6060C>A (p.Thr2020=)
c.1494C>A (p.Thr498=)
c.2288C>A
c.5952C>A (p.Thr1984=)
c.3141C>A (p.Thr1047=)
14g.91272652_91272653delinsAACA645594357CCDC88Cc.6059_6060delinsTT (p.Thr2020Ile)
c.1493_1494delinsTT (p.Thr498Ile)
c.2287_2288delinsTT
c.5951_5952delinsTT (p.Thr1984Ile)
c.3140_3141delinsTT (p.Thr1047Ile)
 COSMIC COSMIC COSMIC
14g.91272653G>ACA390607964CCDC88Cc.6059C>T (p.Thr2020Ile)
c.1493C>T (p.Thr498Ile)
c.2287C>T
c.5951C>T (p.Thr1984Ile)
c.3140C>T (p.Thr1047Ile)
14g.91272653G>CCA390607966CCDC88Cc.6059C>G (p.Thr2020Ser)
c.1493C>G (p.Thr498Ser)
c.2287C>G
c.5951C>G (p.Thr1984Ser)
c.3140C>G (p.Thr1047Ser)
14g.91272653G>TCA390607965CCDC88Cc.6059C>A (p.Thr2020Asn)
c.1493C>A (p.Thr498Asn)
c.2287C>A
c.5951C>A (p.Thr1984Asn)
c.3140C>A (p.Thr1047Asn)
 gnomAD v4
14g.91272654T>ACA390607967CCDC88Cc.6058A>T (p.Thr2020Ser)
c.1492A>T (p.Thr498Ser)
c.2286A>T
c.5950A>T (p.Thr1984Ser)
c.3139A>T (p.Thr1047Ser)
14g.91272654T>CCA390607968CCDC88Cc.6058A>G (p.Thr2020Ala)
c.1492A>G (p.Thr498Ala)
c.2286A>G
c.5950A>G (p.Thr1984Ala)
c.3139A>G (p.Thr1047Ala)
14g.91272654T>GCA390607969CCDC88Cc.6058A>C (p.Thr2020Pro)
c.1492A>C (p.Thr498Pro)
c.2286A>C
c.5950A>C (p.Thr1984Pro)
c.3139A>C (p.Thr1047Pro)
14g.91272655C>ACA390607970CCDC88Cc.6057G>T (p.Gln2019His)
c.1491G>T (p.Gln497His)
c.2285G>T
c.5949G>T (p.Gln1983His)
c.3138G>T (p.Gln1046His)
 gnomAD v4
14g.91272655C>GCA390607971CCDC88Cc.6057G>C (p.Gln2019His)
c.1491G>C (p.Gln497His)
c.2285G>C
c.5949G>C (p.Gln1983His)
c.3138G>C (p.Gln1046His)
14g.91272655C>TCA487828458CCDC88Cc.6057G>A (p.Gln2019=)
c.1491G>A (p.Gln497=)
c.2285G>A
c.5949G>A (p.Gln1983=)
c.3138G>A (p.Gln1046=)
 COSMIC COSMIC COSMIC
14g.91272656T>ACA390607972CCDC88Cc.6056A>T (p.Gln2019Leu)
c.1490A>T (p.Gln497Leu)
c.2284A>T
c.5948A>T (p.Gln1983Leu)
c.3137A>T (p.Gln1046Leu)
14g.91272656T>CCA390607974CCDC88Cc.6056A>G (p.Gln2019Arg)
c.1490A>G (p.Gln497Arg)
c.2284A>G
c.5948A>G (p.Gln1983Arg)
c.3137A>G (p.Gln1046Arg)
14g.91272656T>GCA390607973CCDC88Cc.6056A>C (p.Gln2019Pro)
c.1490A>C (p.Gln497Pro)
c.2284A>C
c.5948A>C (p.Gln1983Pro)
c.3137A>C (p.Gln1046Pro)
14g.91272657G>ACA390607975CCDC88Cc.6055C>T (p.Gln2019Ter)
c.1489C>T (p.Gln497Ter)
c.2283C>T
c.5947C>T (p.Gln1983Ter)
c.3136C>T (p.Gln1046Ter)
 gnomAD v4
14g.91272657G>CCA390607976CCDC88Cc.6055C>G (p.Gln2019Glu)
c.1489C>G (p.Gln497Glu)
c.2283C>G
c.5947C>G (p.Gln1983Glu)
c.3136C>G (p.Gln1046Glu)
14g.91272657G>TCA390607977CCDC88Cc.6055C>A (p.Gln2019Lys)
c.1489C>A (p.Gln497Lys)
c.2283C>A
c.5947C>A (p.Gln1983Lys)
c.3136C>A (p.Gln1046Lys)
14g.91272658C>ACA487828460CCDC88Cc.6054G>T (p.Pro2018=)
c.1488G>T (p.Pro496=)
c.2282G>T
c.5946G>T (p.Pro1982=)
c.3135G>T (p.Pro1045=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91272658C=CA2154899977CCDC88Cc.6054G= (p.Pro2018=)
c.1488G= (p.Pro496=)
c.2282G=
c.5946G= (p.Pro1982=)
c.3135G= (p.Pro1045=)
14g.91272658C>GCA487828461CCDC88Cc.6054G>C (p.Pro2018=)
c.1488G>C (p.Pro496=)
c.2282G>C
c.5946G>C (p.Pro1982=)
c.3135G>C (p.Pro1045=)
14g.91272658C>TCA7308514CCDC88Cc.6054G>A (p.Pro2018=)
c.1488G>A (p.Pro496=)
c.2282G>A
c.5946G>A (p.Pro1982=)
c.3135G>A (p.Pro1045=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272659G>ACA7308515CCDC88Cc.6053C>T (p.Pro2018Leu)
c.1487C>T (p.Pro496Leu)
c.2281C>T
c.5945C>T (p.Pro1982Leu)
c.3134C>T (p.Pro1045Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272659G>CCA390607978CCDC88Cc.6053C>G (p.Pro2018Arg)
c.1487C>G (p.Pro496Arg)
c.2281C>G
c.5945C>G (p.Pro1982Arg)
c.3134C>G (p.Pro1045Arg)
 gnomAD v4
14g.91272659G=CA2154899980CCDC88Cc.6053C= (p.Pro2018=)
c.1487C= (p.Pro496=)
c.2281C=
c.5945C= (p.Pro1982=)
c.3134C= (p.Pro1045=)
14g.91272659G>TCA390607979CCDC88Cc.6053C>A (p.Pro2018Gln)
c.1487C>A (p.Pro496Gln)
c.2281C>A
c.5945C>A (p.Pro1982Gln)
c.3134C>A (p.Pro1045Gln)
14g.91272660G>ACA390607980CCDC88Cc.6052C>T (p.Pro2018Ser)
c.1486C>T (p.Pro496Ser)
c.2280C>T
c.5944C>T (p.Pro1982Ser)
c.3133C>T (p.Pro1045Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.91272660G>CCA390607981CCDC88Cc.6052C>G (p.Pro2018Ala)
c.1486C>G (p.Pro496Ala)
c.2280C>G
c.5944C>G (p.Pro1982Ala)
c.3133C>G (p.Pro1045Ala)
14g.91272660G=CA2154899984CCDC88Cc.6052C= (p.Pro2018=)
c.1486C= (p.Pro496=)
c.2280C=
c.5944C= (p.Pro1982=)
c.3133C= (p.Pro1045=)
14g.91272660G>TCA390607982CCDC88Cc.6052C>A (p.Pro2018Thr)
c.1486C>A (p.Pro496Thr)
c.2280C>A
c.5944C>A (p.Pro1982Thr)
c.3133C>A (p.Pro1045Thr)
 gnomAD v4
14g.91272661A>CCA390607983CCDC88Cc.6051T>G (p.Asp2017Glu)
c.1485T>G (p.Asp495Glu)
c.2279T>G
c.5943T>G (p.Asp1981Glu)
c.3132T>G (p.Asp1044Glu)
14g.91272661A>GCA487828466CCDC88Cc.6051T>C (p.Asp2017=)
c.1485T>C (p.Asp495=)
c.2279T>C
c.5943T>C (p.Asp1981=)
c.3132T>C (p.Asp1044=)
14g.91272661A>TCA390607984CCDC88Cc.6051T>A (p.Asp2017Glu)
c.1485T>A (p.Asp495Glu)
c.2279T>A
c.5943T>A (p.Asp1981Glu)
c.3132T>A (p.Asp1044Glu)
14g.91272662T>ACA390607987CCDC88Cc.6050A>T (p.Asp2017Val)
c.1484A>T (p.Asp495Val)
c.2278A>T
c.5942A>T (p.Asp1981Val)
c.3131A>T (p.Asp1044Val)
14g.91272662T>CCA390607985CCDC88Cc.6050A>G (p.Asp2017Gly)
c.1484A>G (p.Asp495Gly)
c.2278A>G
c.5942A>G (p.Asp1981Gly)
c.3131A>G (p.Asp1044Gly)
14g.91272662T>GCA390607986CCDC88Cc.6050A>C (p.Asp2017Ala)
c.1484A>C (p.Asp495Ala)
c.2278A>C
c.5942A>C (p.Asp1981Ala)
c.3131A>C (p.Asp1044Ala)
14g.91272662_91272663delinsTCCA2154899986CCDC88Cc.6049_6050delinsGA (p.Asp2017=)
c.1483_1484delinsGA (p.Asp495=)
c.2277_2278delinsGA
c.5941_5942delinsGA (p.Asp1981=)
c.3130_3131delinsGA (p.Asp1044=)
14g.91272663C>ACA390607988CCDC88Cc.6049G>T (p.Asp2017Tyr)
c.1483G>T (p.Asp495Tyr)
c.2277G>T
c.5941G>T (p.Asp1981Tyr)
c.3130G>T (p.Asp1044Tyr)
14g.91272663C=CA2154899994CCDC88Cc.6049G= (p.Asp2017=)
c.1483G= (p.Asp495=)
c.2277G=
c.5941G= (p.Asp1981=)
c.3130G= (p.Asp1044=)
14g.91272663C>GCA390607990CCDC88Cc.6049G>C (p.Asp2017His)
c.1483G>C (p.Asp495His)
c.2277G>C
c.5941G>C (p.Asp1981His)
c.3130G>C (p.Asp1044His)
14g.91272663C>TCA390607989CCDC88Cc.6049G>A (p.Asp2017Asn)
c.1483G>A (p.Asp495Asn)
c.2277G>A
c.5941G>A (p.Asp1981Asn)
c.3130G>A (p.Asp1044Asn)
 dbSNP gnomAD v2 COSMIC COSMIC COSMIC
14g.91272666delCA616112269CCDC88Cc.6049del (p.Asp2017IlefsTer?)
c.1483del (p.Asp495IlefsTer?)
c.2277del
c.5941del (p.Asp1981IlefsTer?)
c.3130del (p.Asp1044IlefsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272664C>ACA487828467CCDC88Cc.6048G>T (p.Gly2016=)
c.1482G>T (p.Gly494=)
c.2276G>T
c.5940G>T (p.Gly1980=)
c.3129G>T (p.Gly1043=)
14g.91272664C>GCA487828468CCDC88Cc.6048G>C (p.Gly2016=)
c.1482G>C (p.Gly494=)
c.2276G>C
c.5940G>C (p.Gly1980=)
c.3129G>C (p.Gly1043=)
14g.91272664C>TCA487828469CCDC88Cc.6048G>A (p.Gly2016=)
c.1482G>A (p.Gly494=)
c.2276G>A
c.5940G>A (p.Gly1980=)
c.3129G>A (p.Gly1043=)
14g.91272665C>ACA390607991CCDC88Cc.6047G>T (p.Gly2016Val)
c.1481G>T (p.Gly494Val)
c.2275G>T
c.5939G>T (p.Gly1980Val)
c.3128G>T (p.Gly1043Val)
14g.91272665C>GCA390607992CCDC88Cc.6047G>C (p.Gly2016Ala)
c.1481G>C (p.Gly494Ala)
c.2275G>C
c.5939G>C (p.Gly1980Ala)
c.3128G>C (p.Gly1043Ala)
14g.91272665C>TCA390607993CCDC88Cc.6047G>A (p.Gly2016Glu)
c.1481G>A (p.Gly494Glu)
c.2275G>A
c.5939G>A (p.Gly1980Glu)
c.3128G>A (p.Gly1043Glu)
 gnomAD v4
14g.91272666C>ACA390607994CCDC88Cc.6046G>T (p.Gly2016Trp)
c.1480G>T (p.Gly494Trp)
c.2274G>T
c.5938G>T (p.Gly1980Trp)
c.3127G>T (p.Gly1043Trp)
 dbSNP
14g.91272666C=CA2154899998CCDC88Cc.6046G= (p.Gly2016=)
c.1480G= (p.Gly494=)
c.2274G=
c.5938G= (p.Gly1980=)
c.3127G= (p.Gly1043=)
14g.91272666C>GCA7308517CCDC88Cc.6046G>C (p.Gly2016Arg)
c.1480G>C (p.Gly494Arg)
c.2274G>C
c.5938G>C (p.Gly1980Arg)
c.3127G>C (p.Gly1043Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272666C>TCA7308516CCDC88Cc.6046G>A (p.Gly2016Arg)
c.1480G>A (p.Gly494Arg)
c.2274G>A
c.5938G>A (p.Gly1980Arg)
c.3127G>A (p.Gly1043Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272667delCA2626127153CCDC88Cc.6045del (p.Asp2017IlefsTer?)
c.1479del (p.Asp495IlefsTer?)
c.2273del
c.5937del (p.Asp1981IlefsTer?)
c.3126del (p.Asp1044IlefsTer?)
 gnomAD v4
14g.91272667G>ACA487828474CCDC88Cc.6045C>T (p.Gly2015=)
c.1479C>T (p.Gly493=)
c.2273C>T
c.5937C>T (p.Gly1979=)
c.3126C>T (p.Gly1042=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272667G>CCA7308518CCDC88Cc.6045C>G (p.Gly2015=)
c.1479C>G (p.Gly493=)
c.2273C>G
c.5937C>G (p.Gly1979=)
c.3126C>G (p.Gly1042=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272667G=CA2154900003CCDC88Cc.6045C= (p.Gly2015=)
c.1479C= (p.Gly493=)
c.2273C=
c.5937C= (p.Gly1979=)
c.3126C= (p.Gly1042=)
14g.91272667G>TCA487828473CCDC88Cc.6045C>A (p.Gly2015=)
c.1479C>A (p.Gly493=)
c.2273C>A
c.5937C>A (p.Gly1979=)
c.3126C>A (p.Gly1042=)
 gnomAD v4
14g.91272668C>ACA390607995CCDC88Cc.6044G>T (p.Gly2015Val)
c.1478G>T (p.Gly493Val)
c.2272G>T
c.5936G>T (p.Gly1979Val)
c.3125G>T (p.Gly1042Val)
 gnomAD v4
14g.91272668C>GCA390607996CCDC88Cc.6044G>C (p.Gly2015Ala)
c.1478G>C (p.Gly493Ala)
c.2272G>C
c.5936G>C (p.Gly1979Ala)
c.3125G>C (p.Gly1042Ala)
14g.91272668C>TCA390607997CCDC88Cc.6044G>A (p.Gly2015Asp)
c.1478G>A (p.Gly493Asp)
c.2272G>A
c.5936G>A (p.Gly1979Asp)
c.3125G>A (p.Gly1042Asp)
 gnomAD v4
14g.91272669C>ACA390607998CCDC88Cc.6043G>T (p.Gly2015Cys)
c.1477G>T (p.Gly493Cys)
c.2271G>T
c.5935G>T (p.Gly1979Cys)
c.3124G>T (p.Gly1042Cys)
 dbSNP gnomAD v4
14g.91272669C=CA2154900013CCDC88Cc.6043G= (p.Gly2015=)
c.1477G= (p.Gly493=)
c.2271G=
c.5935G= (p.Gly1979=)
c.3124G= (p.Gly1042=)
14g.91272669C>GCA390607999CCDC88Cc.6043G>C (p.Gly2015Arg)
c.1477G>C (p.Gly493Arg)
c.2271G>C
c.5935G>C (p.Gly1979Arg)
c.3124G>C (p.Gly1042Arg)
14g.91272669C>TCA7308519CCDC88Cc.6043G>A (p.Gly2015Ser)
c.1477G>A (p.Gly493Ser)
c.2271G>A
c.5935G>A (p.Gly1979Ser)
c.3124G>A (p.Gly1042Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272670G>ACA7308520CCDC88Cc.6042C>T (p.Pro2014=)
c.1476C>T (p.Pro492=)
c.2270C>T
c.5934C>T (p.Pro1978=)
c.3123C>T (p.Pro1041=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272670G>CCA487828478CCDC88Cc.6042C>G (p.Pro2014=)
c.1476C>G (p.Pro492=)
c.2270C>G
c.5934C>G (p.Pro1978=)
c.3123C>G (p.Pro1041=)
14g.91272670G=CA2154900017CCDC88Cc.6042C= (p.Pro2014=)
c.1476C= (p.Pro492=)
c.2270C=
c.5934C= (p.Pro1978=)
c.3123C= (p.Pro1041=)
14g.91272670G>TCA487828479CCDC88Cc.6042C>A (p.Pro2014=)
c.1476C>A (p.Pro492=)
c.2270C>A
c.5934C>A (p.Pro1978=)
c.3123C>A (p.Pro1041=)
 gnomAD v4
14g.91272671G>ACA390608002CCDC88Cc.6041C>T (p.Pro2014Leu)
c.1475C>T (p.Pro492Leu)
c.2269C>T
c.5933C>T (p.Pro1978Leu)
c.3122C>T (p.Pro1041Leu)
 gnomAD v4
14g.91272671G>CCA390608000CCDC88Cc.6041C>G (p.Pro2014Arg)
c.1475C>G (p.Pro492Arg)
c.2269C>G
c.5933C>G (p.Pro1978Arg)
c.3122C>G (p.Pro1041Arg)
 gnomAD v4
14g.91272671G>TCA390608001CCDC88Cc.6041C>A (p.Pro2014His)
c.1475C>A (p.Pro492His)
c.2269C>A
c.5933C>A (p.Pro1978His)
c.3122C>A (p.Pro1041His)
14g.91272672G>ACA390608003CCDC88Cc.6040C>T (p.Pro2014Ser)
c.1474C>T (p.Pro492Ser)
c.2268C>T
c.5932C>T (p.Pro1978Ser)
c.3121C>T (p.Pro1041Ser)
 COSMIC COSMIC COSMIC
14g.91272672G>CCA390608004CCDC88Cc.6040C>G (p.Pro2014Ala)
c.1474C>G (p.Pro492Ala)
c.2268C>G
c.5932C>G (p.Pro1978Ala)
c.3121C>G (p.Pro1041Ala)
14g.91272672G>TCA390608005CCDC88Cc.6040C>A (p.Pro2014Thr)
c.1474C>A (p.Pro492Thr)
c.2268C>A
c.5932C>A (p.Pro1978Thr)
c.3121C>A (p.Pro1041Thr)
14g.91272673C>ACA390608006CCDC88Cc.6039G>T (p.Glu2013Asp)
c.1473G>T (p.Glu491Asp)
c.2267G>T
c.5931G>T (p.Glu1977Asp)
c.3120G>T (p.Glu1040Asp)
14g.91272673C>GCA390608007CCDC88Cc.6039G>C (p.Glu2013Asp)
c.1473G>C (p.Glu491Asp)
c.2267G>C
c.5931G>C (p.Glu1977Asp)
c.3120G>C (p.Glu1040Asp)
 gnomAD v4
14g.91272673C>TCA487828481CCDC88Cc.6039G>A (p.Glu2013=)
c.1473G>A (p.Glu491=)
c.2267G>A
c.5931G>A (p.Glu1977=)
c.3120G>A (p.Glu1040=)
14g.91272674T>ACA390608008CCDC88Cc.6038A>T (p.Glu2013Val)
c.1472A>T (p.Glu491Val)
c.2266A>T
c.5930A>T (p.Glu1977Val)
c.3119A>T (p.Glu1040Val)
14g.91272674T>CCA390608010CCDC88Cc.6038A>G (p.Glu2013Gly)
c.1472A>G (p.Glu491Gly)
c.2266A>G
c.5930A>G (p.Glu1977Gly)
c.3119A>G (p.Glu1040Gly)
14g.91272674T>GCA390608009CCDC88Cc.6038A>C (p.Glu2013Ala)
c.1472A>C (p.Glu491Ala)
c.2266A>C
c.5930A>C (p.Glu1977Ala)
c.3119A>C (p.Glu1040Ala)
14g.91272675C>ACA390608011CCDC88Cc.6037G>T (p.Glu2013Ter)
c.1471G>T (p.Glu491Ter)
c.2265G>T
c.5929G>T (p.Glu1977Ter)
c.3118G>T (p.Glu1040Ter)
14g.91272675C=CA2154900020CCDC88Cc.6037G= (p.Glu2013=)
c.1471G= (p.Glu491=)
c.2265G=
c.5929G= (p.Glu1977=)
c.3118G= (p.Glu1040=)
14g.91272675C>GCA390608012CCDC88Cc.6037G>C (p.Glu2013Gln)
c.1471G>C (p.Glu491Gln)
c.2265G>C
c.5929G>C (p.Glu1977Gln)
c.3118G>C (p.Glu1040Gln)
14g.91272675C>TCA390608013CCDC88Cc.6037G>A (p.Glu2013Lys)
c.1471G>A (p.Glu491Lys)
c.2265G>A
c.5929G>A (p.Glu1977Lys)
c.3118G>A (p.Glu1040Lys)
 dbSNP gnomAD v2 gnomAD v4
14g.91272676C>ACA487828484CCDC88Cc.6036G>T (p.Pro2012=)
c.1470G>T (p.Pro490=)
c.2264G>T
c.5928G>T (p.Pro1976=)
c.3117G>T (p.Pro1039=)
14g.91272676C=CA2154900030CCDC88Cc.6036G= (p.Pro2012=)
c.1470G= (p.Pro490=)
c.2264G=
c.5928G= (p.Pro1976=)
c.3117G= (p.Pro1039=)
14g.91272676C>GCA487828485CCDC88Cc.6036G>C (p.Pro2012=)
c.1470G>C (p.Pro490=)
c.2264G>C
c.5928G>C (p.Pro1976=)
c.3117G>C (p.Pro1039=)
 gnomAD v4
14g.91272676C>TCA7308521CCDC88Cc.6036G>A (p.Pro2012=)
c.1470G>A (p.Pro490=)
c.2264G>A
c.5928G>A (p.Pro1976=)
c.3117G>A (p.Pro1039=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272677G>ACA7308522CCDC88Cc.6035C>T (p.Pro2012Leu)
c.1469C>T (p.Pro490Leu)
c.2263C>T
c.5927C>T (p.Pro1976Leu)
c.3116C>T (p.Pro1039Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272677G>CCA390608014CCDC88Cc.6035C>G (p.Pro2012Arg)
c.1469C>G (p.Pro490Arg)
c.2263C>G
c.5927C>G (p.Pro1976Arg)
c.3116C>G (p.Pro1039Arg)
 dbSNP gnomAD v3 gnomAD v4
14g.91272677G=CA2154900037CCDC88Cc.6035C= (p.Pro2012=)
c.1469C= (p.Pro490=)
c.2263C=
c.5927C= (p.Pro1976=)
c.3116C= (p.Pro1039=)
14g.91272677G>TCA7308523CCDC88Cc.6035C>A (p.Pro2012Gln)
c.1469C>A (p.Pro490Gln)
c.2263C>A
c.5927C>A (p.Pro1976Gln)
c.3116C>A (p.Pro1039Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272680delCA2626127171CCDC88Cc.6035del (p.Pro2012ArgfsTer?)
c.1469del (p.Pro490ArgfsTer?)
c.2263del
c.5927del (p.Pro1976ArgfsTer?)
c.3116del (p.Pro1039ArgfsTer?)
 gnomAD v4
14g.91272678G>ACA390608015CCDC88Cc.6034C>T (p.Pro2012Ser)
c.1468C>T (p.Pro490Ser)
c.2262C>T
c.5926C>T (p.Pro1976Ser)
c.3115C>T (p.Pro1039Ser)
 gnomAD v4
14g.91272678G>CCA390608016CCDC88Cc.6034C>G (p.Pro2012Ala)
c.1468C>G (p.Pro490Ala)
c.2262C>G
c.5926C>G (p.Pro1976Ala)
c.3115C>G (p.Pro1039Ala)
14g.91272678G>TCA390608017CCDC88Cc.6034C>A (p.Pro2012Thr)
c.1468C>A (p.Pro490Thr)
c.2262C>A
c.5926C>A (p.Pro1976Thr)
c.3115C>A (p.Pro1039Thr)
14g.91272679G>ACA487828489CCDC88Cc.6033C>T (p.Ser2011=)
c.1467C>T (p.Ser489=)
c.2261C>T
c.5925C>T (p.Ser1975=)
c.3114C>T (p.Ser1038=)
 gnomAD v4
14g.91272679G>CCA487828490CCDC88Cc.6033C>G (p.Ser2011=)
c.1467C>G (p.Ser489=)
c.2261C>G
c.5925C>G (p.Ser1975=)
c.3114C>G (p.Ser1038=)
 dbSNP
14g.91272679G=CA2154900040CCDC88Cc.6033C= (p.Ser2011=)
c.1467C= (p.Ser489=)
c.2261C=
c.5925C= (p.Ser1975=)
c.3114C= (p.Ser1038=)
14g.91272679G>TCA487828491CCDC88Cc.6033C>A (p.Ser2011=)
c.1467C>A (p.Ser489=)
c.2261C>A
c.5925C>A (p.Ser1975=)
c.3114C>A (p.Ser1038=)
14g.91272680G>ACA390608018CCDC88Cc.6032C>T (p.Ser2011Phe)
c.1466C>T (p.Ser489Phe)
c.2260C>T
c.5924C>T (p.Ser1975Phe)
c.3113C>T (p.Ser1038Phe)
 gnomAD v4
14g.91272680G>CCA7308524CCDC88Cc.6032C>G (p.Ser2011Cys)
c.1466C>G (p.Ser489Cys)
c.2260C>G
c.5924C>G (p.Ser1975Cys)
c.3113C>G (p.Ser1038Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272680G=CA2154900057CCDC88Cc.6032C= (p.Ser2011=)
c.1466C= (p.Ser489=)
c.2260C=
c.5924C= (p.Ser1975=)
c.3113C= (p.Ser1038=)
14g.91272680G>TCA390608019CCDC88Cc.6032C>A (p.Ser2011Tyr)
c.1466C>A (p.Ser489Tyr)
c.2260C>A
c.5924C>A (p.Ser1975Tyr)
c.3113C>A (p.Ser1038Tyr)
 gnomAD v4
14g.91272681A>CCA390608020CCDC88Cc.6031T>G (p.Ser2011Ala)
c.1465T>G (p.Ser489Ala)
c.2259T>G
c.5923T>G (p.Ser1975Ala)
c.3112T>G (p.Ser1038Ala)
14g.91272681A>GCA390608021CCDC88Cc.6031T>C (p.Ser2011Pro)
c.1465T>C (p.Ser489Pro)
c.2259T>C
c.5923T>C (p.Ser1975Pro)
c.3112T>C (p.Ser1038Pro)
14g.91272681A>TCA390608022CCDC88Cc.6031T>A (p.Ser2011Thr)
c.1465T>A (p.Ser489Thr)
c.2259T>A
c.5923T>A (p.Ser1975Thr)
c.3112T>A (p.Ser1038Thr)
14g.91272682G>ACA487828493CCDC88Cc.6030C>T (p.Ala2010=)
c.1464C>T (p.Ala488=)
c.2258C>T
c.5922C>T (p.Ala1974=)
c.3111C>T (p.Ala1037=)
 gnomAD v4
14g.91272682G>CCA487828495CCDC88Cc.6030C>G (p.Ala2010=)
c.1464C>G (p.Ala488=)
c.2258C>G
c.5922C>G (p.Ala1974=)
c.3111C>G (p.Ala1037=)
14g.91272682G>TCA487828496CCDC88Cc.6030C>A (p.Ala2010=)
c.1464C>A (p.Ala488=)
c.2258C>A
c.5922C>A (p.Ala1974=)
c.3111C>A (p.Ala1037=)
 gnomAD v4
14g.91272683G>ACA390608023CCDC88Cc.6029C>T (p.Ala2010Val)
c.1463C>T (p.Ala488Val)
c.2257C>T
c.5921C>T (p.Ala1974Val)
c.3110C>T (p.Ala1037Val)
14g.91272683G>CCA390608024CCDC88Cc.6029C>G (p.Ala2010Gly)
c.1463C>G (p.Ala488Gly)
c.2257C>G
c.5921C>G (p.Ala1974Gly)
c.3110C>G (p.Ala1037Gly)
14g.91272683G>TCA390608025CCDC88Cc.6029C>A (p.Ala2010Asp)
c.1463C>A (p.Ala488Asp)
c.2257C>A
c.5921C>A (p.Ala1974Asp)
c.3110C>A (p.Ala1037Asp)
 gnomAD v4
14g.91272684C>ACA390608027CCDC88Cc.6028G>T (p.Ala2010Ser)
c.1462G>T (p.Ala488Ser)
c.2256G>T
c.5920G>T (p.Ala1974Ser)
c.3109G>T (p.Ala1037Ser)
 dbSNP
14g.91272684C=CA2154900062CCDC88Cc.6028G= (p.Ala2010=)
c.1462G= (p.Ala488=)
c.2256G=
c.5920G= (p.Ala1974=)
c.3109G= (p.Ala1037=)
14g.91272684C>GCA390608028CCDC88Cc.6028G>C (p.Ala2010Pro)
c.1462G>C (p.Ala488Pro)
c.2256G>C
c.5920G>C (p.Ala1974Pro)
c.3109G>C (p.Ala1037Pro)
14g.91272684C>TCA390608026CCDC88Cc.6028G>A (p.Ala2010Thr)
c.1462G>A (p.Ala488Thr)
c.2256G>A
c.5920G>A (p.Ala1974Thr)
c.3109G>A (p.Ala1037Thr)
 gnomAD v4
14g.91272685C>ACA487828498CCDC88Cc.6027G>T (p.Pro2009=)
c.1461G>T (p.Pro487=)
c.2255G>T
c.5919G>T (p.Pro1973=)
c.3108G>T (p.Pro1036=)
14g.91272685C=CA2154900082CCDC88Cc.6027G= (p.Pro2009=)
c.1461G= (p.Pro487=)
c.2255G=
c.5919G= (p.Pro1973=)
c.3108G= (p.Pro1036=)
14g.91272685C>GCA487828499CCDC88Cc.6027G>C (p.Pro2009=)
c.1461G>C (p.Pro487=)
c.2255G>C
c.5919G>C (p.Pro1973=)
c.3108G>C (p.Pro1036=)
14g.91272685C>TCA7308525CCDC88Cc.6027G>A (p.Pro2009=)
c.1461G>A (p.Pro487=)
c.2255G>A
c.5919G>A (p.Pro1973=)
c.3108G>A (p.Pro1036=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272686G>ACA7308526CCDC88Cc.6026C>T (p.Pro2009Leu)
c.1460C>T (p.Pro487Leu)
c.2254C>T
c.5918C>T (p.Pro1973Leu)
c.3107C>T (p.Pro1036Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.91272686G>CCA390608029CCDC88Cc.6026C>G (p.Pro2009Arg)
c.1460C>G (p.Pro487Arg)
c.2254C>G
c.5918C>G (p.Pro1973Arg)
c.3107C>G (p.Pro1036Arg)
 gnomAD v4
14g.91272686G=CA2154900094CCDC88Cc.6026C= (p.Pro2009=)
c.1460C= (p.Pro487=)
c.2254C=
c.5918C= (p.Pro1973=)
c.3107C= (p.Pro1036=)
14g.91272686G>TCA390608030CCDC88Cc.6026C>A (p.Pro2009Gln)
c.1460C>A (p.Pro487Gln)
c.2254C>A
c.5918C>A (p.Pro1973Gln)
c.3107C>A (p.Pro1036Gln)
 gnomAD v4
14g.91272687G>ACA390608033CCDC88Cc.6025C>T (p.Pro2009Ser)
c.1459C>T (p.Pro487Ser)
c.2253C>T
c.5917C>T (p.Pro1973Ser)
c.3106C>T (p.Pro1036Ser)
 gnomAD v4
14g.91272687G>CCA390608032CCDC88Cc.6025C>G (p.Pro2009Ala)
c.1459C>G (p.Pro487Ala)
c.2253C>G
c.5917C>G (p.Pro1973Ala)
c.3106C>G (p.Pro1036Ala)
14g.91272687G>TCA390608031CCDC88Cc.6025C>A (p.Pro2009Thr)
c.1459C>A (p.Pro487Thr)
c.2253C>A
c.5917C>A (p.Pro1973Thr)
c.3106C>A (p.Pro1036Thr)
14g.91272688A=CA2154900105CCDC88Cc.6024T= (p.Ser2008=)
c.1458T= (p.Ser486=)
c.2252T=
c.5916T= (p.Ser1972=)
c.3105T= (p.Ser1035=)
14g.91272688A>CCA390608034CCDC88Cc.6024T>G (p.Ser2008Arg)
c.1458T>G (p.Ser486Arg)
c.2252T>G
c.5916T>G (p.Ser1972Arg)
c.3105T>G (p.Ser1035Arg)
14g.91272688A>GCA7308527CCDC88Cc.6024T>C (p.Ser2008=)
c.1458T>C (p.Ser486=)
c.2252T>C
c.5916T>C (p.Ser1972=)
c.3105T>C (p.Ser1035=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272688A>TCA390608035CCDC88Cc.6024T>A (p.Ser2008Arg)
c.1458T>A (p.Ser486Arg)
c.2252T>A
c.5916T>A (p.Ser1972Arg)
c.3105T>A (p.Ser1035Arg)
14g.91272689C>ACA390608036CCDC88Cc.6023G>T (p.Ser2008Ile)
c.1457G>T (p.Ser486Ile)
c.2251G>T
c.5915G>T (p.Ser1972Ile)
c.3104G>T (p.Ser1035Ile)
14g.91272689C>GCA390608037CCDC88Cc.6023G>C (p.Ser2008Thr)
c.1457G>C (p.Ser486Thr)
c.2251G>C
c.5915G>C (p.Ser1972Thr)
c.3104G>C (p.Ser1035Thr)
14g.91272689C>TCA390608038CCDC88Cc.6023G>A (p.Ser2008Asn)
c.1457G>A (p.Ser486Asn)
c.2251G>A
c.5915G>A (p.Ser1972Asn)
c.3104G>A (p.Ser1035Asn)
14g.91272690T>ACA390608040CCDC88Cc.6022A>T (p.Ser2008Cys)
c.1456A>T (p.Ser486Cys)
c.2250A>T
c.5914A>T (p.Ser1972Cys)
c.3103A>T (p.Ser1035Cys)
14g.91272690T>CCA7308528CCDC88Cc.6022A>G (p.Ser2008Gly)
c.1456A>G (p.Ser486Gly)
c.2250A>G
c.5914A>G (p.Ser1972Gly)
c.3103A>G (p.Ser1035Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272690T>GCA390608039CCDC88Cc.6022A>C (p.Ser2008Arg)
c.1456A>C (p.Ser486Arg)
c.2250A>C
c.5914A>C (p.Ser1972Arg)
c.3103A>C (p.Ser1035Arg)
14g.91272690T=CA2154900109CCDC88Cc.6022A= (p.Ser2008=)
c.1456A= (p.Ser486=)
c.2250A=
c.5914A= (p.Ser1972=)
c.3103A= (p.Ser1035=)
14g.91272691delCA2730191427CCDC88Cc.6021del (p.Ser2007ArgfsTer?)
c.1455del (p.Ser485ArgfsTer?)
c.2249del
c.5913del (p.Ser1971ArgfsTer?)
c.3102del (p.Ser1034ArgfsTer?)
 dbSNP
14g.91272691G>ACA265517062CCDC88Cc.6021C>T (p.Ser2007=)
c.1455C>T (p.Ser485=)
c.2249C>T
c.5913C>T (p.Ser1971=)
c.3102C>T (p.Ser1034=)
 dbSNP gnomAD v2 gnomAD v4
14g.91272691G>CCA390608041CCDC88Cc.6021C>G (p.Ser2007Arg)
c.1455C>G (p.Ser485Arg)
c.2249C>G
c.5913C>G (p.Ser1971Arg)
c.3102C>G (p.Ser1034Arg)
14g.91272691G=CA2154900112CCDC88Cc.6021C= (p.Ser2007=)
c.1455C= (p.Ser485=)
c.2249C=
c.5913C= (p.Ser1971=)
c.3102C= (p.Ser1034=)
14g.91272691G>TCA390608042CCDC88Cc.6021C>A (p.Ser2007Arg)
c.1455C>A (p.Ser485Arg)
c.2249C>A
c.5913C>A (p.Ser1971Arg)
c.3102C>A (p.Ser1034Arg)
14g.91272692C>ACA390608043CCDC88Cc.6020G>T (p.Ser2007Ile)
c.1454G>T (p.Ser485Ile)
c.2248G>T
c.5912G>T (p.Ser1971Ile)
c.3101G>T (p.Ser1034Ile)
14g.91272692C>GCA390608044CCDC88Cc.6020G>C (p.Ser2007Thr)
c.1454G>C (p.Ser485Thr)
c.2248G>C
c.5912G>C (p.Ser1971Thr)
c.3101G>C (p.Ser1034Thr)
14g.91272692C>TCA390608045CCDC88Cc.6020G>A (p.Ser2007Asn)
c.1454G>A (p.Ser485Asn)
c.2248G>A
c.5912G>A (p.Ser1971Asn)
c.3101G>A (p.Ser1034Asn)
14g.91272693T>ACA390608046CCDC88Cc.6019A>T (p.Ser2007Cys)
c.1453A>T (p.Ser485Cys)
c.2247A>T
c.5911A>T (p.Ser1971Cys)
c.3100A>T (p.Ser1034Cys)
14g.91272693T>CCA390608047CCDC88Cc.6019A>G (p.Ser2007Gly)
c.1453A>G (p.Ser485Gly)
c.2247A>G
c.5911A>G (p.Ser1971Gly)
c.3100A>G (p.Ser1034Gly)
14g.91272693T>GCA390608048CCDC88Cc.6019A>C (p.Ser2007Arg)
c.1453A>C (p.Ser485Arg)
c.2247A>C
c.5911A>C (p.Ser1971Arg)
c.3100A>C (p.Ser1034Arg)
14g.91272694C>ACA390608049CCDC88Cc.6018G>T (p.Lys2006Asn)
c.1452G>T (p.Lys484Asn)
c.2246G>T
c.5910G>T (p.Lys1970Asn)
c.3099G>T (p.Lys1033Asn)
14g.91272694C=CA2154900121CCDC88Cc.6018G= (p.Lys2006=)
c.1452G= (p.Lys484=)
c.2246G=
c.5910G= (p.Lys1970=)
c.3099G= (p.Lys1033=)
14g.91272694C>GCA390608050CCDC88Cc.6018G>C (p.Lys2006Asn)
c.1452G>C (p.Lys484Asn)
c.2246G>C
c.5910G>C (p.Lys1970Asn)
c.3099G>C (p.Lys1033Asn)
14g.91272694C>TCA487828502CCDC88Cc.6018G>A (p.Lys2006=)
c.1452G>A (p.Lys484=)
c.2246G>A
c.5910G>A (p.Lys1970=)
c.3099G>A (p.Lys1033=)
 ClinVar dbSNP
14g.91272694_91272696delinsCTTCA2154900118CCDC88Cc.6016_6018delinsAAG (p.Lys2006=)
c.1450_1452delinsAAG (p.Lys484=)
c.2244_2246delinsAAG
c.5908_5910delinsAAG (p.Lys1970=)
c.3097_3099delinsAAG (p.Lys1033=)
14g.91272695T>ACA390608051CCDC88Cc.6017A>T (p.Lys2006Met)
c.1451A>T (p.Lys484Met)
c.2245A>T
c.5909A>T (p.Lys1970Met)
c.3098A>T (p.Lys1033Met)
14g.91272695T>CCA390608052CCDC88Cc.6017A>G (p.Lys2006Arg)
c.1451A>G (p.Lys484Arg)
c.2245A>G
c.5909A>G (p.Lys1970Arg)
c.3098A>G (p.Lys1033Arg)
14g.91272695T>GCA390608053CCDC88Cc.6017A>C (p.Lys2006Thr)
c.1451A>C (p.Lys484Thr)
c.2245A>C
c.5909A>C (p.Lys1970Thr)
c.3098A>C (p.Lys1033Thr)
14g.91272696_91272697delCA2154900124CCDC88Cc.6016_6017del (p.Lys2006GlufsTer18)
c.1450_1451del (p.Lys484GlufsTer18)
c.2244_2245del
c.5908_5909del (p.Lys1970GlufsTer18)
c.3097_3098del (p.Lys1033GlufsTer18)
 dbSNP gnomAD v4
14g.91272696T>ACA390608056CCDC88Cc.6016A>T (p.Lys2006Ter)
c.1450A>T (p.Lys484Ter)
c.2244A>T
c.5908A>T (p.Lys1970Ter)
c.3097A>T (p.Lys1033Ter)
14g.91272696T>CCA390608055CCDC88Cc.6016A>G (p.Lys2006Glu)
c.1450A>G (p.Lys484Glu)
c.2244A>G
c.5908A>G (p.Lys1970Glu)
c.3097A>G (p.Lys1033Glu)
 gnomAD v4
14g.91272696T>GCA390608054CCDC88Cc.6016A>C (p.Lys2006Gln)
c.1450A>C (p.Lys484Gln)
c.2244A>C
c.5908A>C (p.Lys1970Gln)
c.3097A>C (p.Lys1033Gln)
14g.91272697T>ACA487828504CCDC88Cc.6015A>T (p.Ser2005=)
c.1449A>T (p.Ser483=)
c.2243A>T
c.5907A>T (p.Ser1969=)
c.3096A>T (p.Ser1032=)
14g.91272697T>CCA487828505CCDC88Cc.6015A>G (p.Ser2005=)
c.1449A>G (p.Ser483=)
c.2243A>G
c.5907A>G (p.Ser1969=)
c.3096A>G (p.Ser1032=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272697T>GCA487828506CCDC88Cc.6015A>C (p.Ser2005=)
c.1449A>C (p.Ser483=)
c.2243A>C
c.5907A>C (p.Ser1969=)
c.3096A>C (p.Ser1032=)
14g.91272697T=CA2154900127CCDC88Cc.6015A= (p.Ser2005=)
c.1449A= (p.Ser483=)
c.2243A=
c.5907A= (p.Ser1969=)
c.3096A= (p.Ser1032=)
14g.91272698G>ACA390608057CCDC88Cc.6014C>T (p.Ser2005Leu)
c.1448C>T (p.Ser483Leu)
c.2242C>T
c.5906C>T (p.Ser1969Leu)
c.3095C>T (p.Ser1032Leu)
14g.91272698G>CCA390608058CCDC88Cc.6014C>G (p.Ser2005Ter)
c.1448C>G (p.Ser483Ter)
c.2242C>G
c.5906C>G (p.Ser1969Ter)
c.3095C>G (p.Ser1032Ter)
 dbSNP gnomAD v4
14g.91272698G>TCA390608059CCDC88Cc.6014C>A (p.Ser2005Ter)
c.1448C>A (p.Ser483Ter)
c.2242C>A
c.5906C>A (p.Ser1969Ter)
c.3095C>A (p.Ser1032Ter)
 gnomAD v4
14g.91272699A>CCA390608060CCDC88Cc.6013T>G (p.Ser2005Ala)
c.1447T>G (p.Ser483Ala)
c.2241T>G
c.5905T>G (p.Ser1969Ala)
c.3094T>G (p.Ser1032Ala)
14g.91272699A>GCA390608061CCDC88Cc.6013T>C (p.Ser2005Pro)
c.1447T>C (p.Ser483Pro)
c.2241T>C
c.5905T>C (p.Ser1969Pro)
c.3094T>C (p.Ser1032Pro)
14g.91272699A>TCA390608062CCDC88Cc.6013T>A (p.Ser2005Thr)
c.1447T>A (p.Ser483Thr)
c.2241T>A
c.5905T>A (p.Ser1969Thr)
c.3094T>A (p.Ser1032Thr)
14g.91272700G>ACA487828511CCDC88Cc.6012C>T (p.Val2004=)
c.1446C>T (p.Val482=)
c.2240C>T
c.5904C>T (p.Val1968=)
c.3093C>T (p.Val1031=)
14g.91272700G>CCA487828510CCDC88Cc.6012C>G (p.Val2004=)
c.1446C>G (p.Val482=)
c.2240C>G
c.5904C>G (p.Val1968=)
c.3093C>G (p.Val1031=)
14g.91272700G=CA2154900134CCDC88Cc.6012C= (p.Val2004=)
c.1446C= (p.Val482=)
c.2240C=
c.5904C= (p.Val1968=)
c.3093C= (p.Val1031=)
14g.91272700G>TCA7308529CCDC88Cc.6012C>A (p.Val2004=)
c.1446C>A (p.Val482=)
c.2240C>A
c.5904C>A (p.Val1968=)
c.3093C>A (p.Val1031=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272701delCA2730191728CCDC88Cc.6011del (p.Val2004AlafsTer?)
c.1445del (p.Val482AlafsTer?)
c.2239del
c.5903del (p.Val1968AlafsTer?)
c.3092del (p.Val1031AlafsTer?)
 dbSNP
14g.91272701A=CA2154900144CCDC88Cc.6011T= (p.Val2004=)
c.1445T= (p.Val482=)
c.2239T=
c.5903T= (p.Val1968=)
c.3092T= (p.Val1031=)
14g.91272701A>CCA390608063CCDC88Cc.6011T>G (p.Val2004Gly)
c.1445T>G (p.Val482Gly)
c.2239T>G
c.5903T>G (p.Val1968Gly)
c.3092T>G (p.Val1031Gly)
14g.91272701A>GCA7308530CCDC88Cc.6011T>C (p.Val2004Ala)
c.1445T>C (p.Val482Ala)
c.2239T>C
c.5903T>C (p.Val1968Ala)
c.3092T>C (p.Val1031Ala)
 dbSNP ExAC gnomAD v3 gnomAD v4
14g.91272701A>TCA390608064CCDC88Cc.6011T>A (p.Val2004Asp)
c.1445T>A (p.Val482Asp)
c.2239T>A
c.5903T>A (p.Val1968Asp)
c.3092T>A (p.Val1031Asp)
14g.91272702C>ACA7308533CCDC88Cc.6010G>T (p.Val2004Phe)
c.1444G>T (p.Val482Phe)
c.2238G>T
c.5902G>T (p.Val1968Phe)
c.3091G>T (p.Val1031Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272702C=CA2154900150CCDC88Cc.6010G= (p.Val2004=)
c.1444G= (p.Val482=)
c.2238G=
c.5902G= (p.Val1968=)
c.3091G= (p.Val1031=)
14g.91272702C>GCA7308531CCDC88Cc.6010G>C (p.Val2004Leu)
c.1444G>C (p.Val482Leu)
c.2238G>C
c.5902G>C (p.Val1968Leu)
c.3091G>C (p.Val1031Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272702C>TCA7308532CCDC88Cc.6010G>A (p.Val2004Ile)
c.1444G>A (p.Val482Ile)
c.2238G>A
c.5902G>A (p.Val1968Ile)
c.3091G>A (p.Val1031Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.91272703G>ACA7308534CCDC88Cc.6009C>T (p.Ser2003=)
c.1443C>T (p.Ser481=)
c.2237C>T
c.5901C>T (p.Ser1967=)
c.3090C>T (p.Ser1030=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272703G>CCA390608066CCDC88Cc.6009C>G (p.Ser2003Arg)
c.1443C>G (p.Ser481Arg)
c.2237C>G
c.5901C>G (p.Ser1967Arg)
c.3090C>G (p.Ser1030Arg)
14g.91272703G=CA2154900154CCDC88Cc.6009C= (p.Ser2003=)
c.1443C= (p.Ser481=)
c.2237C=
c.5901C= (p.Ser1967=)
c.3090C= (p.Ser1030=)
14g.91272703G>TCA390608065CCDC88Cc.6009C>A (p.Ser2003Arg)
c.1443C>A (p.Ser481Arg)
c.2237C>A
c.5901C>A (p.Ser1967Arg)
c.3090C>A (p.Ser1030Arg)
 gnomAD v4
14g.91272704C>ACA390608068CCDC88Cc.6008G>T (p.Ser2003Ile)
c.1442G>T (p.Ser481Ile)
c.2236G>T
c.5900G>T (p.Ser1967Ile)
c.3089G>T (p.Ser1030Ile)
14g.91272704C=CA2154900159CCDC88Cc.6008G= (p.Ser2003=)
c.1442G= (p.Ser481=)
c.2236G=
c.5900G= (p.Ser1967=)
c.3089G= (p.Ser1030=)
14g.91272704C>GCA390608067CCDC88Cc.6008G>C (p.Ser2003Thr)
c.1442G>C (p.Ser481Thr)
c.2236G>C
c.5900G>C (p.Ser1967Thr)
c.3089G>C (p.Ser1030Thr)
14g.91272704C>TCA7308535CCDC88Cc.6008G>A (p.Ser2003Asn)
c.1442G>A (p.Ser481Asn)
c.2236G>A
c.5900G>A (p.Ser1967Asn)
c.3089G>A (p.Ser1030Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272705T>ACA390608069CCDC88Cc.6007A>T (p.Ser2003Cys)
c.1441A>T (p.Ser481Cys)
c.2235A>T
c.5899A>T (p.Ser1967Cys)
c.3088A>T (p.Ser1030Cys)
14g.91272705T>CCA390608070CCDC88Cc.6007A>G (p.Ser2003Gly)
c.1441A>G (p.Ser481Gly)
c.2235A>G
c.5899A>G (p.Ser1967Gly)
c.3088A>G (p.Ser1030Gly)
14g.91272705T>GCA390608071CCDC88Cc.6007A>C (p.Ser2003Arg)
c.1441A>C (p.Ser481Arg)
c.2235A>C
c.5899A>C (p.Ser1967Arg)
c.3088A>C (p.Ser1030Arg)
14g.91272706C>ACA487828514CCDC88Cc.6006G>T (p.Gly2002=)
c.1440G>T (p.Gly480=)
c.2234G>T
c.5898G>T (p.Gly1966=)
c.3087G>T (p.Gly1029=)
14g.91272706C>GCA487828516CCDC88Cc.6006G>C (p.Gly2002=)
c.1440G>C (p.Gly480=)
c.2234G>C
c.5898G>C (p.Gly1966=)
c.3087G>C (p.Gly1029=)
14g.91272706C>TCA487828515CCDC88Cc.6006G>A (p.Gly2002=)
c.1440G>A (p.Gly480=)
c.2234G>A
c.5898G>A (p.Gly1966=)
c.3087G>A (p.Gly1029=)
 gnomAD v4
14g.91272708delCA2626127220CCDC88Cc.6006del (p.Ser2003AlafsTer?)
c.1440del (p.Ser481AlafsTer?)
c.2234del
c.5898del (p.Ser1967AlafsTer?)
c.3087del (p.Ser1030AlafsTer?)
 gnomAD v4
14g.91272707C>ACA390608072CCDC88Cc.6005G>T (p.Gly2002Val)
c.1439G>T (p.Gly480Val)
c.2233G>T
c.5897G>T (p.Gly1966Val)
c.3086G>T (p.Gly1029Val)
 dbSNP gnomAD v2 gnomAD v4
14g.91272707C=CA2154900166CCDC88Cc.6005G= (p.Gly2002=)
c.1439G= (p.Gly480=)
c.2233G=
c.5897G= (p.Gly1966=)
c.3086G= (p.Gly1029=)
14g.91272707C>GCA390608073CCDC88Cc.6005G>C (p.Gly2002Ala)
c.1439G>C (p.Gly480Ala)
c.2233G>C
c.5897G>C (p.Gly1966Ala)
c.3086G>C (p.Gly1029Ala)
14g.91272707C>TCA390608074CCDC88Cc.6005G>A (p.Gly2002Glu)
c.1439G>A (p.Gly480Glu)
c.2233G>A
c.5897G>A (p.Gly1966Glu)
c.3086G>A (p.Gly1029Glu)
14g.91272708C>ACA390608075CCDC88Cc.6004G>T (p.Gly2002Trp)
c.1438G>T (p.Gly480Trp)
c.2232G>T
c.5896G>T (p.Gly1966Trp)
c.3085G>T (p.Gly1029Trp)
 gnomAD v4
14g.91272708C=CA2154900172CCDC88Cc.6004G= (p.Gly2002=)
c.1438G= (p.Gly480=)
c.2232G=
c.5896G= (p.Gly1966=)
c.3085G= (p.Gly1029=)
14g.91272708C>GCA390608076CCDC88Cc.6004G>C (p.Gly2002Arg)
c.1438G>C (p.Gly480Arg)
c.2232G>C
c.5896G>C (p.Gly1966Arg)
c.3085G>C (p.Gly1029Arg)
14g.91272708C>TCA390608077CCDC88Cc.6004G>A (p.Gly2002Arg)
c.1438G>A (p.Gly480Arg)
c.2232G>A
c.5896G>A (p.Gly1966Arg)
c.3085G>A (p.Gly1029Arg)
 dbSNP
14g.91272709T>ACA487828520CCDC88Cc.6003A>T (p.Arg2001=)
c.1437A>T (p.Arg479=)
c.2231A>T
c.5895A>T (p.Arg1965=)
c.3084A>T (p.Arg1028=)
14g.91272709T>CCA487828521CCDC88Cc.6003A>G (p.Arg2001=)
c.1437A>G (p.Arg479=)
c.2231A>G
c.5895A>G (p.Arg1965=)
c.3084A>G (p.Arg1028=)
14g.91272709T>GCA487828522CCDC88Cc.6003A>C (p.Arg2001=)
c.1437A>C (p.Arg479=)
c.2231A>C
c.5895A>C (p.Arg1965=)
c.3084A>C (p.Arg1028=)
14g.91272710C>ACA390608078CCDC88Cc.6002G>T (p.Arg2001Leu)
c.1436G>T (p.Arg479Leu)
c.2230G>T
c.5894G>T (p.Arg1965Leu)
c.3083G>T (p.Arg1028Leu)
 gnomAD v4
14g.91272710C=CA2154900176CCDC88Cc.6002G= (p.Arg2001=)
c.1436G= (p.Arg479=)
c.2230G=
c.5894G= (p.Arg1965=)
c.3083G= (p.Arg1028=)
14g.91272710C>GCA390608079CCDC88Cc.6002G>C (p.Arg2001Pro)
c.1436G>C (p.Arg479Pro)
c.2230G>C
c.5894G>C (p.Arg1965Pro)
c.3083G>C (p.Arg1028Pro)
14g.91272710C>TCA7308536CCDC88Cc.6002G>A (p.Arg2001Gln)
c.1436G>A (p.Arg479Gln)
c.2230G>A
c.5894G>A (p.Arg1965Gln)
c.3083G>A (p.Arg1028Gln)
 dbSNP ExAC gnomAD v4
14g.91272711G>ACA390608080CCDC88Cc.6001C>T (p.Arg2001Ter)
c.1435C>T (p.Arg479Ter)
c.2229C>T
c.5893C>T (p.Arg1965Ter)
c.3082C>T (p.Arg1028Ter)
 ClinVar gnomAD v4 COSMIC COSMIC COSMIC
14g.91272711G>CCA7308537CCDC88Cc.6001C>G (p.Arg2001Gly)
c.1435C>G (p.Arg479Gly)
c.2229C>G
c.5893C>G (p.Arg1965Gly)
c.3082C>G (p.Arg1028Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272711G=CA2154900180CCDC88Cc.6001C= (p.Arg2001=)
c.1435C= (p.Arg479=)
c.2229C=
c.5893C= (p.Arg1965=)
c.3082C= (p.Arg1028=)
14g.91272711G>TCA487828525CCDC88Cc.6001C>A (p.Arg2001=)
c.1435C>A (p.Arg479=)
c.2229C>A
c.5893C>A (p.Arg1965=)
c.3082C>A (p.Arg1028=)
 gnomAD v4
14g.91272712A>CCA390608081CCDC88Cc.6000T>G (p.Ser2000Arg)
c.1434T>G (p.Ser478Arg)
c.2228T>G
c.5892T>G (p.Ser1964Arg)
c.3081T>G (p.Ser1027Arg)
14g.91272712A>GCA487828528CCDC88Cc.6000T>C (p.Ser2000=)
c.1434T>C (p.Ser478=)
c.2228T>C
c.5892T>C (p.Ser1964=)
c.3081T>C (p.Ser1027=)
 gnomAD v4
14g.91272712A>TCA390608082CCDC88Cc.6000T>A (p.Ser2000Arg)
c.1434T>A (p.Ser478Arg)
c.2228T>A
c.5892T>A (p.Ser1964Arg)
c.3081T>A (p.Ser1027Arg)
14g.91272712_91272713delinsACCA2154900186CCDC88Cc.5999_6000delinsGT (p.Ser2000=)
c.1433_1434delinsGT (p.Ser478=)
c.2227_2228delinsGT
c.5891_5892delinsGT (p.Ser1964=)
c.3080_3081delinsGT (p.Ser1027=)
14g.91272713delCA709860298CCDC88Cc.5999del (p.Ser2000IlefsTer?)
c.1433del (p.Ser478IlefsTer?)
c.2227del
c.5891del (p.Ser1964IlefsTer?)
c.3080del (p.Ser1027IlefsTer?)
 dbSNP
14g.91272713C>ACA390608083CCDC88Cc.5999G>T (p.Ser2000Ile)
c.1433G>T (p.Ser478Ile)
c.2227G>T
c.5891G>T (p.Ser1964Ile)
c.3080G>T (p.Ser1027Ile)
14g.91272713C>GCA390608084CCDC88Cc.5999G>C (p.Ser2000Thr)
c.1433G>C (p.Ser478Thr)
c.2227G>C
c.5891G>C (p.Ser1964Thr)
c.3080G>C (p.Ser1027Thr)
14g.91272713C>TCA390608085CCDC88Cc.5999G>A (p.Ser2000Asn)
c.1433G>A (p.Ser478Asn)
c.2227G>A
c.5891G>A (p.Ser1964Asn)
c.3080G>A (p.Ser1027Asn)
14g.91272714T>ACA390608086CCDC88Cc.5998A>T (p.Ser2000Cys)
c.1432A>T (p.Ser478Cys)
c.2226A>T
c.5890A>T (p.Ser1964Cys)
c.3079A>T (p.Ser1027Cys)
14g.91272714T>CCA390608087CCDC88Cc.5998A>G (p.Ser2000Gly)
c.1432A>G (p.Ser478Gly)
c.2226A>G
c.5890A>G (p.Ser1964Gly)
c.3079A>G (p.Ser1027Gly)
 dbSNP gnomAD v2 gnomAD v4
14g.91272714T>GCA390608088CCDC88Cc.5998A>C (p.Ser2000Arg)
c.1432A>C (p.Ser478Arg)
c.2226A>C
c.5890A>C (p.Ser1964Arg)
c.3079A>C (p.Ser1027Arg)
14g.91272714T=CA2154900194CCDC88Cc.5998A= (p.Ser2000=)
c.1432A= (p.Ser478=)
c.2226A=
c.5890A= (p.Ser1964=)
c.3079A= (p.Ser1027=)
14g.91272715G>ACA487828530CCDC88Cc.5997C>T (p.Cys1999=)
c.1431C>T (p.Cys477=)
c.2225C>T
c.5889C>T (p.Cys1963=)
c.3078C>T (p.Cys1026=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91272715G>CCA390608089CCDC88Cc.5997C>G (p.Cys1999Trp)
c.1431C>G (p.Cys477Trp)
c.2225C>G
c.5889C>G (p.Cys1963Trp)
c.3078C>G (p.Cys1026Trp)
 gnomAD v4
14g.91272715G=CA2154900202CCDC88Cc.5997C= (p.Cys1999=)
c.1431C= (p.Cys477=)
c.2225C=
c.5889C= (p.Cys1963=)
c.3078C= (p.Cys1026=)
14g.91272715G>TCA390608090CCDC88Cc.5997C>A (p.Cys1999Ter)
c.1431C>A (p.Cys477Ter)
c.2225C>A
c.5889C>A (p.Cys1963Ter)
c.3078C>A (p.Cys1026Ter)
 gnomAD v4
14g.91272716C>ACA390608091CCDC88Cc.5996G>T (p.Cys1999Phe)
c.1430G>T (p.Cys477Phe)
c.2224G>T
c.5888G>T (p.Cys1963Phe)
c.3077G>T (p.Cys1026Phe)
14g.91272716C=CA2154900207CCDC88Cc.5996G= (p.Cys1999=)
c.1430G= (p.Cys477=)
c.2224G=
c.5888G= (p.Cys1963=)
c.3077G= (p.Cys1026=)
14g.91272716C>GCA390608092CCDC88Cc.5996G>C (p.Cys1999Ser)
c.1430G>C (p.Cys477Ser)
c.2224G>C
c.5888G>C (p.Cys1963Ser)
c.3077G>C (p.Cys1026Ser)
14g.91272716C>TCA390608093CCDC88Cc.5996G>A (p.Cys1999Tyr)
c.1430G>A (p.Cys477Tyr)
c.2224G>A
c.5888G>A (p.Cys1963Tyr)
c.3077G>A (p.Cys1026Tyr)
 dbSNP gnomAD v2 gnomAD v4
14g.91272717A>CCA390608095CCDC88Cc.5995T>G (p.Cys1999Gly)
c.1429T>G (p.Cys477Gly)
c.2223T>G
c.5887T>G (p.Cys1963Gly)
c.3076T>G (p.Cys1026Gly)
14g.91272717A>GCA390608096CCDC88Cc.5995T>C (p.Cys1999Arg)
c.1429T>C (p.Cys477Arg)
c.2223T>C
c.5887T>C (p.Cys1963Arg)
c.3076T>C (p.Cys1026Arg)
 gnomAD v4
14g.91272717A>TCA390608094CCDC88Cc.5995T>A (p.Cys1999Ser)
c.1429T>A (p.Cys477Ser)
c.2223T>A
c.5887T>A (p.Cys1963Ser)
c.3076T>A (p.Cys1026Ser)
14g.91272718G>ACA487828531CCDC88Cc.5994C>T (p.Asp1998=)
c.1428C>T (p.Asp476=)
c.2222C>T
c.5886C>T (p.Asp1962=)
c.3075C>T (p.Asp1025=)
 gnomAD v4
14g.91272718G>CCA7308538CCDC88Cc.5994C>G (p.Asp1998Glu)
c.1428C>G (p.Asp476Glu)
c.2222C>G
c.5886C>G (p.Asp1962Glu)
c.3075C>G (p.Asp1025Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272718G=CA2154900211CCDC88Cc.5994C= (p.Asp1998=)
c.1428C= (p.Asp476=)
c.2222C=
c.5886C= (p.Asp1962=)
c.3075C= (p.Asp1025=)
14g.91272718G>TCA390608097CCDC88Cc.5994C>A (p.Asp1998Glu)
c.1428C>A (p.Asp476Glu)
c.2222C>A
c.5886C>A (p.Asp1962Glu)
c.3075C>A (p.Asp1025Glu)
 gnomAD v4
14g.91272719T>ACA390608098CCDC88Cc.5993A>T (p.Asp1998Val)
c.1427A>T (p.Asp476Val)
c.2221A>T
c.5885A>T (p.Asp1962Val)
c.3074A>T (p.Asp1025Val)
14g.91272719T>CCA390608100CCDC88Cc.5993A>G (p.Asp1998Gly)
c.1427A>G (p.Asp476Gly)
c.2221A>G
c.5885A>G (p.Asp1962Gly)
c.3074A>G (p.Asp1025Gly)
14g.91272719T>GCA390608099CCDC88Cc.5993A>C (p.Asp1998Ala)
c.1427A>C (p.Asp476Ala)
c.2221A>C
c.5885A>C (p.Asp1962Ala)
c.3074A>C (p.Asp1025Ala)
14g.91272720C>ACA390608101CCDC88Cc.5992G>T (p.Asp1998Tyr)
c.1426G>T (p.Asp476Tyr)
c.2220G>T
c.5884G>T (p.Asp1962Tyr)
c.3073G>T (p.Asp1025Tyr)
 gnomAD v4
14g.91272720C>GCA390608102CCDC88Cc.5992G>C (p.Asp1998His)
c.1426G>C (p.Asp476His)
c.2220G>C
c.5884G>C (p.Asp1962His)
c.3073G>C (p.Asp1025His)
14g.91272720C>TCA390608103CCDC88Cc.5992G>A (p.Asp1998Asn)
c.1426G>A (p.Asp476Asn)
c.2220G>A
c.5884G>A (p.Asp1962Asn)
c.3073G>A (p.Asp1025Asn)
 COSMIC COSMIC COSMIC
14g.91272721C>ACA390608104CCDC88Cc.5991G>T (p.Glu1997Asp)
c.1425G>T (p.Glu475Asp)
c.2219G>T
c.5883G>T (p.Glu1961Asp)
c.3072G>T (p.Glu1024Asp)
 gnomAD v4
14g.91272721C=CA2154900218CCDC88Cc.5991G= (p.Glu1997=)
c.1425G= (p.Glu475=)
c.2219G=
c.5883G= (p.Glu1961=)
c.3072G= (p.Glu1024=)
14g.91272721C>GCA390608105CCDC88Cc.5991G>C (p.Glu1997Asp)
c.1425G>C (p.Glu475Asp)
c.2219G>C
c.5883G>C (p.Glu1961Asp)
c.3072G>C (p.Glu1024Asp)
 dbSNP gnomAD v2 gnomAD v4
14g.91272721C>TCA487828534CCDC88Cc.5991G>A (p.Glu1997=)
c.1425G>A (p.Glu475=)
c.2219G>A
c.5883G>A (p.Glu1961=)
c.3072G>A (p.Glu1024=)
 gnomAD v4
14g.91272722T>ACA390608108CCDC88Cc.5990A>T (p.Glu1997Val)
c.1424A>T (p.Glu475Val)
c.2218A>T
c.5882A>T (p.Glu1961Val)
c.3071A>T (p.Glu1024Val)
14g.91272722T>CCA390608113CCDC88Cc.5990A>G (p.Glu1997Gly)
c.1424A>G (p.Glu475Gly)
c.2218A>G
c.5882A>G (p.Glu1961Gly)
c.3071A>G (p.Glu1024Gly)
 gnomAD v4
14g.91272722T>GCA390608114CCDC88Cc.5990A>C (p.Glu1997Ala)
c.1424A>C (p.Glu475Ala)
c.2218A>C
c.5882A>C (p.Glu1961Ala)
c.3071A>C (p.Glu1024Ala)
14g.91272723C>ACA390608115CCDC88Cc.5989G>T (p.Glu1997Ter)
c.1423G>T (p.Glu475Ter)
c.2217G>T
c.5881G>T (p.Glu1961Ter)
c.3070G>T (p.Glu1024Ter)
 gnomAD v4
14g.91272723C>GCA390608116CCDC88Cc.5989G>C (p.Glu1997Gln)
c.1423G>C (p.Glu475Gln)
c.2217G>C
c.5881G>C (p.Glu1961Gln)
c.3070G>C (p.Glu1024Gln)
14g.91272723C>TCA390608117CCDC88Cc.5989G>A (p.Glu1997Lys)
c.1423G>A (p.Glu475Lys)
c.2217G>A
c.5881G>A (p.Glu1961Lys)
c.3070G>A (p.Glu1024Lys)
14g.91272724C>ACA487828537CCDC88Cc.5988G>T (p.Leu1996=)
c.1422G>T (p.Leu474=)
c.2216G>T
c.5880G>T (p.Leu1960=)
c.3069G>T (p.Leu1023=)
14g.91272724C=CA2154900221CCDC88Cc.5988G= (p.Leu1996=)
c.1422G= (p.Leu474=)
c.2216G=
c.5880G= (p.Leu1960=)
c.3069G= (p.Leu1023=)
14g.91272724C>GCA487828538CCDC88Cc.5988G>C (p.Leu1996=)
c.1422G>C (p.Leu474=)
c.2216G>C
c.5880G>C (p.Leu1960=)
c.3069G>C (p.Leu1023=)
14g.91272724C>TCA487828540CCDC88Cc.5988G>A (p.Leu1996=)
c.1422G>A (p.Leu474=)
c.2216G>A
c.5880G>A (p.Leu1960=)
c.3069G>A (p.Leu1023=)
 ClinVar dbSNP gnomAD v4
14g.91272725A=CA2154900224CCDC88Cc.5987T= (p.Leu1996=)
c.1421T= (p.Leu474=)
c.2215T=
c.5879T= (p.Leu1960=)
c.3068T= (p.Leu1023=)
14g.91272725A>CCA390608120CCDC88Cc.5987T>G (p.Leu1996Arg)
c.1421T>G (p.Leu474Arg)
c.2215T>G
c.5879T>G (p.Leu1960Arg)
c.3068T>G (p.Leu1023Arg)
 dbSNP gnomAD v3 gnomAD v4
14g.91272725A>GCA390608118CCDC88Cc.5987T>C (p.Leu1996Pro)
c.1421T>C (p.Leu474Pro)
c.2215T>C
c.5879T>C (p.Leu1960Pro)
c.3068T>C (p.Leu1023Pro)
14g.91272725A>TCA390608119CCDC88Cc.5987T>A (p.Leu1996Gln)
c.1421T>A (p.Leu474Gln)
c.2215T>A
c.5879T>A (p.Leu1960Gln)
c.3068T>A (p.Leu1023Gln)
14g.91272726G>ACA487828541CCDC88Cc.5986C>T (p.Leu1996=)
c.1420C>T (p.Leu474=)
c.2214C>T
c.5878C>T (p.Leu1960=)
c.3067C>T (p.Leu1023=)
 gnomAD v4
14g.91272726G>CCA390608121CCDC88Cc.5986C>G (p.Leu1996Val)
c.1420C>G (p.Leu474Val)
c.2214C>G
c.5878C>G (p.Leu1960Val)
c.3067C>G (p.Leu1023Val)
 dbSNP
14g.91272726G=CA2154900226CCDC88Cc.5986C= (p.Leu1996=)
c.1420C= (p.Leu474=)
c.2214C=
c.5878C= (p.Leu1960=)
c.3067C= (p.Leu1023=)
14g.91272726G>TCA390608122CCDC88Cc.5986C>A (p.Leu1996Met)
c.1420C>A (p.Leu474Met)
c.2214C>A
c.5878C>A (p.Leu1960Met)
c.3067C>A (p.Leu1023Met)
 gnomAD v4
14g.91272727G>ACA487828544CCDC88Cc.5985C>T (p.Ala1995=)
c.1419C>T (p.Ala473=)
c.2213C>T
c.5877C>T (p.Ala1959=)
c.3066C>T (p.Ala1022=)
14g.91272727G>CCA487828543CCDC88Cc.5985C>G (p.Ala1995=)
c.1419C>G (p.Ala473=)
c.2213C>G
c.5877C>G (p.Ala1959=)
c.3066C>G (p.Ala1022=)
14g.91272727G>TCA487828542CCDC88Cc.5985C>A (p.Ala1995=)
c.1419C>A (p.Ala473=)
c.2213C>A
c.5877C>A (p.Ala1959=)
c.3066C>A (p.Ala1022=)
 gnomAD v4
14g.91272728G>ACA390608123CCDC88Cc.5984C>T (p.Ala1995Val)
c.1418C>T (p.Ala473Val)
c.2212C>T
c.5876C>T (p.Ala1959Val)
c.3065C>T (p.Ala1022Val)
 gnomAD v4
14g.91272728G>CCA390608124CCDC88Cc.5984C>G (p.Ala1995Gly)
c.1418C>G (p.Ala473Gly)
c.2212C>G
c.5876C>G (p.Ala1959Gly)
c.3065C>G (p.Ala1022Gly)
14g.91272728G>TCA390608125CCDC88Cc.5984C>A (p.Ala1995Asp)
c.1418C>A (p.Ala473Asp)
c.2212C>A
c.5876C>A (p.Ala1959Asp)
c.3065C>A (p.Ala1022Asp)
 gnomAD v4
14g.91272729C>ACA7308539CCDC88Cc.5983G>T (p.Ala1995Ser)
c.1417G>T (p.Ala473Ser)
c.2211G>T
c.5875G>T (p.Ala1959Ser)
c.3064G>T (p.Ala1022Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272729C=CA2154900230CCDC88Cc.5983G= (p.Ala1995=)
c.1417G= (p.Ala473=)
c.2211G=
c.5875G= (p.Ala1959=)
c.3064G= (p.Ala1022=)
14g.91272729C>GCA390608126CCDC88Cc.5983G>C (p.Ala1995Pro)
c.1417G>C (p.Ala473Pro)
c.2211G>C
c.5875G>C (p.Ala1959Pro)
c.3064G>C (p.Ala1022Pro)
14g.91272729C>TCA390608127CCDC88Cc.5983G>A (p.Ala1995Thr)
c.1417G>A (p.Ala473Thr)
c.2211G>A
c.5875G>A (p.Ala1959Thr)
c.3064G>A (p.Ala1022Thr)
 gnomAD v4 COSMIC COSMIC COSMIC
14g.91272730C>ACA487828545CCDC88Cc.5982G>T (p.Arg1994=)
c.1416G>T (p.Arg472=)
c.2210G>T
c.5874G>T (p.Arg1958=)
c.3063G>T (p.Arg1021=)
14g.91272730C>GCA487828546CCDC88Cc.5982G>C (p.Arg1994=)
c.1416G>C (p.Arg472=)
c.2210G>C
c.5874G>C (p.Arg1958=)
c.3063G>C (p.Arg1021=)
14g.91272730C>TCA487828547CCDC88Cc.5982G>A (p.Arg1994=)
c.1416G>A (p.Arg472=)
c.2210G>A
c.5874G>A (p.Arg1958=)
c.3063G>A (p.Arg1021=)
 gnomAD v4
14g.91272731C>ACA7308540CCDC88Cc.5981G>T (p.Arg1994Leu)
c.1415G>T (p.Arg472Leu)
c.2209G>T
c.5873G>T (p.Arg1958Leu)
c.3062G>T (p.Arg1021Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272731C=CA2154900233CCDC88Cc.5981G= (p.Arg1994=)
c.1415G= (p.Arg472=)
c.2209G=
c.5873G= (p.Arg1958=)
c.3062G= (p.Arg1021=)
14g.91272731C>GCA390608128CCDC88Cc.5981G>C (p.Arg1994Pro)
c.1415G>C (p.Arg472Pro)
c.2209G>C
c.5873G>C (p.Arg1958Pro)
c.3062G>C (p.Arg1021Pro)
14g.91272731C>TCA7308541CCDC88Cc.5981G>A (p.Arg1994Gln)
c.1415G>A (p.Arg472Gln)
c.2209G>A
c.5873G>A (p.Arg1958Gln)
c.3062G>A (p.Arg1021Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272732G>ACA7308542CCDC88Cc.5980C>T (p.Arg1994Trp)
c.1414C>T (p.Arg472Trp)
c.2208C>T
c.5872C>T (p.Arg1958Trp)
c.3061C>T (p.Arg1021Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272732G>CCA171546CCDC88Cc.5980C>G (p.Arg1994Gly)
c.1414C>G (p.Arg472Gly)
c.2208C>G
c.5872C>G (p.Arg1958Gly)
c.3061C>G (p.Arg1021Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272732G=CA2154900237CCDC88Cc.5980C= (p.Arg1994=)
c.1414C= (p.Arg472=)
c.2208C=
c.5872C= (p.Arg1958=)
c.3061C= (p.Arg1021=)
14g.91272732G>TCA487828549CCDC88Cc.5980C>A (p.Arg1994=)
c.1414C>A (p.Arg472=)
c.2208C>A
c.5872C>A (p.Arg1958=)
c.3061C>A (p.Arg1021=)
 ClinVar gnomAD v4

Number of alleles fetched