Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197090957A=CA1217925817ASPMn.2816T=
c.9529T= (p.Cys3177=)
c.9751T= (p.Cys3251=)
c.9505T= (p.Cys3169=)
c.4774T= (p.Cys1592=)
c.2524T= (p.Cys842=)
c.3487T= (p.Cys1163=)
1g.197090957A>CCA344002970ASPMn.2816T>G
c.9529T>G (p.Cys3177Gly)
c.9751T>G (p.Cys3251Gly)
c.9505T>G (p.Cys3169Gly)
c.4774T>G (p.Cys1592Gly)
c.2524T>G (p.Cys842Gly)
c.3487T>G (p.Cys1163Gly)
1g.197090957A>GCA344002974ASPMn.2816T>C
c.9529T>C (p.Cys3177Arg)
c.9751T>C (p.Cys3251Arg)
c.9505T>C (p.Cys3169Arg)
c.4774T>C (p.Cys1592Arg)
c.2524T>C (p.Cys842Arg)
c.3487T>C (p.Cys1163Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.197090957A>TCA344002977ASPMn.2816T>A
c.9529T>A (p.Cys3177Ser)
c.9751T>A (p.Cys3251Ser)
c.9505T>A (p.Cys3169Ser)
c.4774T>A (p.Cys1592Ser)
c.2524T>A (p.Cys842Ser)
c.3487T>A (p.Cys1163Ser)
1g.197090958T>ACA344002981ASPMn.2815A>T
c.9528A>T (p.Glu3176Asp)
c.9750A>T (p.Glu3250Asp)
c.9504A>T (p.Glu3168Asp)
c.4773A>T (p.Glu1591Asp)
c.2523A>T (p.Glu841Asp)
c.3486A>T (p.Glu1162Asp)
1g.197090958T>CCA422672460ASPMn.2815A>G
c.9528A>G (p.Glu3176=)
c.9750A>G (p.Glu3250=)
c.9504A>G (p.Glu3168=)
c.4773A>G (p.Glu1591=)
c.2523A>G (p.Glu841=)
c.3486A>G (p.Glu1162=)
 gnomAD v4
1g.197090958T>GCA344002985ASPMn.2815A>C
c.9528A>C (p.Glu3176Asp)
c.9750A>C (p.Glu3250Asp)
c.9504A>C (p.Glu3168Asp)
c.4773A>C (p.Glu1591Asp)
c.2523A>C (p.Glu841Asp)
c.3486A>C (p.Glu1162Asp)
1g.197090959T>ACA344002991ASPMn.2814A>T
c.9527A>T (p.Glu3176Val)
c.9749A>T (p.Glu3250Val)
c.9503A>T (p.Glu3168Val)
c.4772A>T (p.Glu1591Val)
c.2522A>T (p.Glu841Val)
c.3485A>T (p.Glu1162Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197090959T>CCA344002994ASPMn.2814A>G
c.9527A>G (p.Glu3176Gly)
c.9749A>G (p.Glu3250Gly)
c.9503A>G (p.Glu3168Gly)
c.4772A>G (p.Glu1591Gly)
c.2522A>G (p.Glu841Gly)
c.3485A>G (p.Glu1162Gly)
1g.197090959T>GCA344003009ASPMn.2814A>C
c.9527A>C (p.Glu3176Ala)
c.9749A>C (p.Glu3250Ala)
c.9503A>C (p.Glu3168Ala)
c.4772A>C (p.Glu1591Ala)
c.2522A>C (p.Glu841Ala)
c.3485A>C (p.Glu1162Ala)
1g.197090959T=CA1217925821ASPMn.2814A=
c.9527A= (p.Glu3176=)
c.9749A= (p.Glu3250=)
c.9503A= (p.Glu3168=)
c.4772A= (p.Glu1591=)
c.2522A= (p.Glu841=)
c.3485A= (p.Glu1162=)
1g.197090960C>ACA344003017ASPMn.2813G>T
c.9526G>T (p.Glu3176Ter)
c.9748G>T (p.Glu3250Ter)
c.9502G>T (p.Glu3168Ter)
c.4771G>T (p.Glu1591Ter)
c.2521G>T (p.Glu841Ter)
c.3484G>T (p.Glu1162Ter)
1g.197090960C>GCA344003015ASPMn.2813G>C
c.9526G>C (p.Glu3176Gln)
c.9748G>C (p.Glu3250Gln)
c.9502G>C (p.Glu3168Gln)
c.4771G>C (p.Glu1591Gln)
c.2521G>C (p.Glu841Gln)
c.3484G>C (p.Glu1162Gln)
 COSMIC
1g.197090960C>TCA344003012ASPMn.2813G>A
c.9526G>A (p.Glu3176Lys)
c.9748G>A (p.Glu3250Lys)
c.9502G>A (p.Glu3168Lys)
c.4771G>A (p.Glu1591Lys)
c.2521G>A (p.Glu841Lys)
c.3484G>A (p.Glu1162Lys)
 COSMIC
1g.197090961T>ACA344003022ASPMn.2812A>T
c.9525A>T (p.Gln3175His)
c.9747A>T (p.Gln3249His)
c.9501A>T (p.Gln3167His)
c.4770A>T (p.Gln1590His)
c.2520A>T (p.Gln840His)
c.3483A>T (p.Gln1161His)
1g.197090961T>CCA422672461ASPMn.2812A>G
c.9525A>G (p.Gln3175=)
c.9747A>G (p.Gln3249=)
c.9501A>G (p.Gln3167=)
c.4770A>G (p.Gln1590=)
c.2520A>G (p.Gln840=)
c.3483A>G (p.Gln1161=)
 dbSNP gnomAD v2 gnomAD v4
1g.197090961T>GCA344003026ASPMn.2812A>C
c.9525A>C (p.Gln3175His)
c.9747A>C (p.Gln3249His)
c.9501A>C (p.Gln3167His)
c.4770A>C (p.Gln1590His)
c.2520A>C (p.Gln840His)
c.3483A>C (p.Gln1161His)
1g.197090961T=CA1217925824ASPMn.2812A=
c.9525A= (p.Gln3175=)
c.9747A= (p.Gln3249=)
c.9501A= (p.Gln3167=)
c.4770A= (p.Gln1590=)
c.2520A= (p.Gln840=)
c.3483A= (p.Gln1161=)
1g.197090962T>ACA344003027ASPMn.2811A>T
c.9524A>T (p.Gln3175Leu)
c.9746A>T (p.Gln3249Leu)
c.9500A>T (p.Gln3167Leu)
c.4769A>T (p.Gln1590Leu)
c.2519A>T (p.Gln840Leu)
c.3482A>T (p.Gln1161Leu)
 gnomAD v4
1g.197090962T>CCA344003028ASPMn.2811A>G
c.9524A>G (p.Gln3175Arg)
c.9746A>G (p.Gln3249Arg)
c.9500A>G (p.Gln3167Arg)
c.4769A>G (p.Gln1590Arg)
c.2519A>G (p.Gln840Arg)
c.3482A>G (p.Gln1161Arg)
1g.197090962T>GCA344003033ASPMn.2811A>C
c.9524A>C (p.Gln3175Pro)
c.9746A>C (p.Gln3249Pro)
c.9500A>C (p.Gln3167Pro)
c.4769A>C (p.Gln1590Pro)
c.2519A>C (p.Gln840Pro)
c.3482A>C (p.Gln1161Pro)
1g.197090963G>ACA344003037ASPMn.2810C>T
c.9523C>T (p.Gln3175Ter)
c.9745C>T (p.Gln3249Ter)
c.9499C>T (p.Gln3167Ter)
c.4768C>T (p.Gln1590Ter)
c.2518C>T (p.Gln840Ter)
c.3481C>T (p.Gln1161Ter)
1g.197090963G>CCA344003046ASPMn.2810C>G
c.9523C>G (p.Gln3175Glu)
c.9745C>G (p.Gln3249Glu)
c.9499C>G (p.Gln3167Glu)
c.4768C>G (p.Gln1590Glu)
c.2518C>G (p.Gln840Glu)
c.3481C>G (p.Gln1161Glu)
 dbSNP
1g.197090963G=CA1217925827ASPMn.2810C=
c.9523C= (p.Gln3175=)
c.9745C= (p.Gln3249=)
c.9499C= (p.Gln3167=)
c.4768C= (p.Gln1590=)
c.2518C= (p.Gln840=)
c.3481C= (p.Gln1161=)
1g.197090963G>TCA344003049ASPMn.2810C>A
c.9523C>A (p.Gln3175Lys)
c.9745C>A (p.Gln3249Lys)
c.9499C>A (p.Gln3167Lys)
c.4768C>A (p.Gln1590Lys)
c.2518C>A (p.Gln840Lys)
c.3481C>A (p.Gln1161Lys)
1g.197090964A>CCA422672462ASPMn.2809T>G
c.9522T>G (p.Gly3174=)
c.9744T>G (p.Gly3248=)
c.9498T>G (p.Gly3166=)
c.4767T>G (p.Gly1589=)
c.2517T>G (p.Gly839=)
c.3480T>G (p.Gly1160=)
1g.197090964A>GCA422672464ASPMn.2809T>C
c.9522T>C (p.Gly3174=)
c.9744T>C (p.Gly3248=)
c.9498T>C (p.Gly3166=)
c.4767T>C (p.Gly1589=)
c.2517T>C (p.Gly839=)
c.3480T>C (p.Gly1160=)
 gnomAD v4
1g.197090964A>TCA422672463ASPMn.2809T>A
c.9522T>A (p.Gly3174=)
c.9744T>A (p.Gly3248=)
c.9498T>A (p.Gly3166=)
c.4767T>A (p.Gly1589=)
c.2517T>A (p.Gly839=)
c.3480T>A (p.Gly1160=)
1g.197090965C>ACA344003054ASPMn.2808G>T
c.9521G>T (p.Gly3174Val)
c.9743G>T (p.Gly3248Val)
c.9497G>T (p.Gly3166Val)
c.4766G>T (p.Gly1589Val)
c.2516G>T (p.Gly839Val)
c.3479G>T (p.Gly1160Val)
 dbSNP
1g.197090965C=CA1148349526ASPMn.2808G=
c.9521G= (p.Gly3174=)
c.9743G= (p.Gly3248=)
c.9497G= (p.Gly3166=)
c.4766G= (p.Gly1589=)
c.2516G= (p.Gly839=)
c.3479G= (p.Gly1160=)
1g.197090965C>GCA344003057ASPMn.2808G>C
c.9521G>C (p.Gly3174Ala)
c.9743G>C (p.Gly3248Ala)
c.9497G>C (p.Gly3166Ala)
c.4766G>C (p.Gly1589Ala)
c.2516G>C (p.Gly839Ala)
c.3479G>C (p.Gly1160Ala)
1g.197090965C>TCA1308932ASPMn.2808G>A
c.9521G>A (p.Gly3174Asp)
c.9743G>A (p.Gly3248Asp)
c.9497G>A (p.Gly3166Asp)
c.4766G>A (p.Gly1589Asp)
c.2516G>A (p.Gly839Asp)
c.3479G>A (p.Gly1160Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090966C>ACA344003063ASPMn.2807G>T
c.9520G>T (p.Gly3174Cys)
c.9742G>T (p.Gly3248Cys)
c.9496G>T (p.Gly3166Cys)
c.4765G>T (p.Gly1589Cys)
c.2515G>T (p.Gly839Cys)
c.3478G>T (p.Gly1160Cys)
1g.197090966C=CA1217925834ASPMn.2807G=
c.9520G= (p.Gly3174=)
c.9742G= (p.Gly3248=)
c.9496G= (p.Gly3166=)
c.4765G= (p.Gly1589=)
c.2515G= (p.Gly839=)
c.3478G= (p.Gly1160=)
1g.197090966C>GCA344003065ASPMn.2807G>C
c.9520G>C (p.Gly3174Arg)
c.9742G>C (p.Gly3248Arg)
c.9496G>C (p.Gly3166Arg)
c.4765G>C (p.Gly1589Arg)
c.2515G>C (p.Gly839Arg)
c.3478G>C (p.Gly1160Arg)
1g.197090966C>TCA344003068ASPMn.2807G>A
c.9520G>A (p.Gly3174Ser)
c.9742G>A (p.Gly3248Ser)
c.9496G>A (p.Gly3166Ser)
c.4765G>A (p.Gly1589Ser)
c.2515G>A (p.Gly839Ser)
c.3478G>A (p.Gly1160Ser)
 dbSNP gnomAD v4
1g.197090967T>ACA344003076ASPMn.2806A>T
c.9519A>T (p.Glu3173Asp)
c.9741A>T (p.Glu3247Asp)
c.9495A>T (p.Glu3165Asp)
c.4764A>T (p.Glu1588Asp)
c.2514A>T (p.Glu838Asp)
c.3477A>T (p.Glu1159Asp)
1g.197090967T>CCA422672465ASPMn.2806A>G
c.9519A>G (p.Glu3173=)
c.9741A>G (p.Glu3247=)
c.9495A>G (p.Glu3165=)
c.4764A>G (p.Glu1588=)
c.2514A>G (p.Glu838=)
c.3477A>G (p.Glu1159=)
1g.197090967T>GCA344003072ASPMn.2806A>C
c.9519A>C (p.Glu3173Asp)
c.9741A>C (p.Glu3247Asp)
c.9495A>C (p.Glu3165Asp)
c.4764A>C (p.Glu1588Asp)
c.2514A>C (p.Glu838Asp)
c.3477A>C (p.Glu1159Asp)
1g.197090968T>ACA344003080ASPMn.2805A>T
c.9518A>T (p.Glu3173Val)
c.9740A>T (p.Glu3247Val)
c.9494A>T (p.Glu3165Val)
c.4763A>T (p.Glu1588Val)
c.2513A>T (p.Glu838Val)
c.3476A>T (p.Glu1159Val)
1g.197090968T>CCA344003083ASPMn.2805A>G
c.9518A>G (p.Glu3173Gly)
c.9740A>G (p.Glu3247Gly)
c.9494A>G (p.Glu3165Gly)
c.4763A>G (p.Glu1588Gly)
c.2513A>G (p.Glu838Gly)
c.3476A>G (p.Glu1159Gly)
1g.197090968T>GCA344003095ASPMn.2805A>C
c.9518A>C (p.Glu3173Ala)
c.9740A>C (p.Glu3247Ala)
c.9494A>C (p.Glu3165Ala)
c.4763A>C (p.Glu1588Ala)
c.2513A>C (p.Glu838Ala)
c.3476A>C (p.Glu1159Ala)
1g.197090969C>ACA344003099ASPMn.2804G>T
c.9517G>T (p.Glu3173Ter)
c.9739G>T (p.Glu3247Ter)
c.9493G>T (p.Glu3165Ter)
c.4762G>T (p.Glu1588Ter)
c.2512G>T (p.Glu838Ter)
c.3475G>T (p.Glu1159Ter)
1g.197090969C>GCA344003102ASPMn.2804G>C
c.9517G>C (p.Glu3173Gln)
c.9739G>C (p.Glu3247Gln)
c.9493G>C (p.Glu3165Gln)
c.4762G>C (p.Glu1588Gln)
c.2512G>C (p.Glu838Gln)
c.3475G>C (p.Glu1159Gln)
1g.197090969C>TCA344003105ASPMn.2804G>A
c.9517G>A (p.Glu3173Lys)
c.9739G>A (p.Glu3247Lys)
c.9493G>A (p.Glu3165Lys)
c.4762G>A (p.Glu1588Lys)
c.2512G>A (p.Glu838Lys)
c.3475G>A (p.Glu1159Lys)
1g.197090970A>CCA344003106ASPMn.2803T>G
c.9516T>G (p.His3172Gln)
c.9738T>G (p.His3246Gln)
c.9492T>G (p.His3164Gln)
c.4761T>G (p.His1587Gln)
c.2511T>G (p.His837Gln)
c.3474T>G (p.His1158Gln)
1g.197090970A>GCA422672466ASPMn.2803T>C
c.9516T>C (p.His3172=)
c.9738T>C (p.His3246=)
c.9492T>C (p.His3164=)
c.4761T>C (p.His1587=)
c.2511T>C (p.His837=)
c.3474T>C (p.His1158=)
1g.197090970A>TCA344003107ASPMn.2803T>A
c.9516T>A (p.His3172Gln)
c.9738T>A (p.His3246Gln)
c.9492T>A (p.His3164Gln)
c.4761T>A (p.His1587Gln)
c.2511T>A (p.His837Gln)
c.3474T>A (p.His1158Gln)
1g.197090971T>ACA344003111ASPMn.2802A>T
c.9515A>T (p.His3172Leu)
c.9737A>T (p.His3246Leu)
c.9491A>T (p.His3164Leu)
c.4760A>T (p.His1587Leu)
c.2510A>T (p.His837Leu)
c.3473A>T (p.His1158Leu)
 gnomAD v4
1g.197090971T>CCA344003113ASPMn.2802A>G
c.9515A>G (p.His3172Arg)
c.9737A>G (p.His3246Arg)
c.9491A>G (p.His3164Arg)
c.4760A>G (p.His1587Arg)
c.2510A>G (p.His837Arg)
c.3473A>G (p.His1158Arg)
 gnomAD v4
1g.197090971T>GCA344003129ASPMn.2802A>C
c.9515A>C (p.His3172Pro)
c.9737A>C (p.His3246Pro)
c.9491A>C (p.His3164Pro)
c.4760A>C (p.His1587Pro)
c.2510A>C (p.His837Pro)
c.3473A>C (p.His1158Pro)
1g.197090972G>ACA344003133ASPMn.2801C>T
c.9514C>T (p.His3172Tyr)
c.9736C>T (p.His3246Tyr)
c.9490C>T (p.His3164Tyr)
c.4759C>T (p.His1587Tyr)
c.2509C>T (p.His837Tyr)
c.3472C>T (p.His1158Tyr)
1g.197090972G>CCA344003139ASPMn.2801C>G
c.9514C>G (p.His3172Asp)
c.9736C>G (p.His3246Asp)
c.9490C>G (p.His3164Asp)
c.4759C>G (p.His1587Asp)
c.2509C>G (p.His837Asp)
c.3472C>G (p.His1158Asp)
1g.197090972G>TCA344003142ASPMn.2801C>A
c.9514C>A (p.His3172Asn)
c.9736C>A (p.His3246Asn)
c.9490C>A (p.His3164Asn)
c.4759C>A (p.His1587Asn)
c.2509C>A (p.His837Asn)
c.3472C>A (p.His1158Asn)
 gnomAD v4
1g.197090973C>ACA344003152ASPMn.2800G>T
c.9513G>T (p.Glu3171Asp)
c.9735G>T (p.Glu3245Asp)
c.9489G>T (p.Glu3163Asp)
c.4758G>T (p.Glu1586Asp)
c.2508G>T (p.Glu836Asp)
c.3471G>T (p.Glu1157Asp)
1g.197090973C=CA1217925837ASPMn.2800G=
c.9513G= (p.Glu3171=)
c.9735G= (p.Glu3245=)
c.9489G= (p.Glu3163=)
c.4758G= (p.Glu1586=)
c.2508G= (p.Glu836=)
c.3471G= (p.Glu1157=)
1g.197090973C>GCA344003154ASPMn.2800G>C
c.9513G>C (p.Glu3171Asp)
c.9735G>C (p.Glu3245Asp)
c.9489G>C (p.Glu3163Asp)
c.4758G>C (p.Glu1586Asp)
c.2508G>C (p.Glu836Asp)
c.3471G>C (p.Glu1157Asp)
1g.197090973C>TCA422672467ASPMn.2800G>A
c.9513G>A (p.Glu3171=)
c.9735G>A (p.Glu3245=)
c.9489G>A (p.Glu3163=)
c.4758G>A (p.Glu1586=)
c.2508G>A (p.Glu836=)
c.3471G>A (p.Glu1157=)
 dbSNP gnomAD v3 gnomAD v4
1g.197090974T>ACA344003157ASPMn.2799A>T
c.9512A>T (p.Glu3171Val)
c.9734A>T (p.Glu3245Val)
c.9488A>T (p.Glu3163Val)
c.4757A>T (p.Glu1586Val)
c.2507A>T (p.Glu836Val)
c.3470A>T (p.Glu1157Val)
1g.197090974T>CCA344003166ASPMn.2799A>G
c.9512A>G (p.Glu3171Gly)
c.9734A>G (p.Glu3245Gly)
c.9488A>G (p.Glu3163Gly)
c.4757A>G (p.Glu1586Gly)
c.2507A>G (p.Glu836Gly)
c.3470A>G (p.Glu1157Gly)
1g.197090974T>GCA344003161ASPMn.2799A>C
c.9512A>C (p.Glu3171Ala)
c.9734A>C (p.Glu3245Ala)
c.9488A>C (p.Glu3163Ala)
c.4757A>C (p.Glu1586Ala)
c.2507A>C (p.Glu836Ala)
c.3470A>C (p.Glu1157Ala)
 gnomAD v4
1g.197090975C>ACA344003177ASPMn.2798G>T
c.9511G>T (p.Glu3171Ter)
c.9733G>T (p.Glu3245Ter)
c.9487G>T (p.Glu3163Ter)
c.4756G>T (p.Glu1586Ter)
c.2506G>T (p.Glu836Ter)
c.3469G>T (p.Glu1157Ter)
1g.197090975C>GCA344003180ASPMn.2798G>C
c.9511G>C (p.Glu3171Gln)
c.9733G>C (p.Glu3245Gln)
c.9487G>C (p.Glu3163Gln)
c.4756G>C (p.Glu1586Gln)
c.2506G>C (p.Glu836Gln)
c.3469G>C (p.Glu1157Gln)
1g.197090975C>TCA344003185ASPMn.2798G>A
c.9511G>A (p.Glu3171Lys)
c.9733G>A (p.Glu3245Lys)
c.9487G>A (p.Glu3163Lys)
c.4756G>A (p.Glu1586Lys)
c.2506G>A (p.Glu836Lys)
c.3469G>A (p.Glu1157Lys)
 gnomAD v4
1g.197090976A>CCA344003190ASPMn.2797T>G
c.9510T>G (p.Ile3170Met)
c.9732T>G (p.Ile3244Met)
c.9486T>G (p.Ile3162Met)
c.4755T>G (p.Ile1585Met)
c.2505T>G (p.Ile835Met)
c.3468T>G (p.Ile1156Met)
1g.197090976A>GCA422672468ASPMn.2797T>C
c.9510T>C (p.Ile3170=)
c.9732T>C (p.Ile3244=)
c.9486T>C (p.Ile3162=)
c.4755T>C (p.Ile1585=)
c.2505T>C (p.Ile835=)
c.3468T>C (p.Ile1156=)
1g.197090976A>TCA422672469ASPMn.2797T>A
c.9510T>A (p.Ile3170=)
c.9732T>A (p.Ile3244=)
c.9486T>A (p.Ile3162=)
c.4755T>A (p.Ile1585=)
c.2505T>A (p.Ile835=)
c.3468T>A (p.Ile1156=)
1g.197090977A>CCA344003200ASPMn.2796T>G
c.9509T>G (p.Ile3170Ser)
c.9731T>G (p.Ile3244Ser)
c.9485T>G (p.Ile3162Ser)
c.4754T>G (p.Ile1585Ser)
c.2504T>G (p.Ile835Ser)
c.3467T>G (p.Ile1156Ser)
1g.197090977A>GCA344003203ASPMn.2796T>C
c.9509T>C (p.Ile3170Thr)
c.9731T>C (p.Ile3244Thr)
c.9485T>C (p.Ile3162Thr)
c.4754T>C (p.Ile1585Thr)
c.2504T>C (p.Ile835Thr)
c.3467T>C (p.Ile1156Thr)
1g.197090977A>TCA344003205ASPMn.2796T>A
c.9509T>A (p.Ile3170Asn)
c.9731T>A (p.Ile3244Asn)
c.9485T>A (p.Ile3162Asn)
c.4754T>A (p.Ile1585Asn)
c.2504T>A (p.Ile835Asn)
c.3467T>A (p.Ile1156Asn)
1g.197090978T>ACA344003215ASPMn.2795A>T
c.9508A>T (p.Ile3170Phe)
c.9730A>T (p.Ile3244Phe)
c.9484A>T (p.Ile3162Phe)
c.4753A>T (p.Ile1585Phe)
c.2503A>T (p.Ile835Phe)
c.3466A>T (p.Ile1156Phe)
1g.197090978T>CCA344003211ASPMn.2795A>G
c.9508A>G (p.Ile3170Val)
c.9730A>G (p.Ile3244Val)
c.9484A>G (p.Ile3162Val)
c.4753A>G (p.Ile1585Val)
c.2503A>G (p.Ile835Val)
c.3466A>G (p.Ile1156Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197090978T>GCA344003212ASPMn.2795A>C
c.9508A>C (p.Ile3170Leu)
c.9730A>C (p.Ile3244Leu)
c.9484A>C (p.Ile3162Leu)
c.4753A>C (p.Ile1585Leu)
c.2503A>C (p.Ile835Leu)
c.3466A>C (p.Ile1156Leu)
1g.197090978T=CA1217925840ASPMn.2795A=
c.9508A= (p.Ile3170=)
c.9730A= (p.Ile3244=)
c.9484A= (p.Ile3162=)
c.4753A= (p.Ile1585=)
c.2503A= (p.Ile835=)
c.3466A= (p.Ile1156=)
1g.197090978_197090979delinsTCCA1217925839ASPMn.2794_2795delinsGA
c.9507_9508delinsGA (p.Lys3169=)
c.9729_9730delinsGA (p.Lys3243=)
c.9483_9484delinsGA (p.Lys3161=)
c.4752_4753delinsGA (p.Lys1584=)
c.2502_2503delinsGA (p.Lys834=)
c.3465_3466delinsGA (p.Lys1155=)
1g.197090979delCA342299ASPMn.2794del
c.9507del (p.Ile3170LeufsTer9)
c.9729del (p.Ile3244LeufsTer9)
c.9483del (p.Ile3162LeufsTer9)
c.4752del (p.Ile1585LeufsTer9)
c.2502del (p.Ile835LeufsTer9)
c.3465del (p.Ile1156LeufsTer9)
 ClinVar dbSNP
1g.197090979C>ACA1308933ASPMn.2794G>T
c.9507G>T (p.Lys3169Asn)
c.9729G>T (p.Lys3243Asn)
c.9483G>T (p.Lys3161Asn)
c.4752G>T (p.Lys1584Asn)
c.2502G>T (p.Lys834Asn)
c.3465G>T (p.Lys1155Asn)
 dbSNP ExAC gnomAD v2
1g.197090979C=CA1143355791ASPMn.2794G=
c.9507G= (p.Lys3169=)
c.9729G= (p.Lys3243=)
c.9483G= (p.Lys3161=)
c.4752G= (p.Lys1584=)
c.2502G= (p.Lys834=)
c.3465G= (p.Lys1155=)
1g.197090979C>GCA344003228ASPMn.2794G>C
c.9507G>C (p.Lys3169Asn)
c.9729G>C (p.Lys3243Asn)
c.9483G>C (p.Lys3161Asn)
c.4752G>C (p.Lys1584Asn)
c.2502G>C (p.Lys834Asn)
c.3465G>C (p.Lys1155Asn)
 gnomAD v4
1g.197090979C>TCA422672470ASPMn.2794G>A
c.9507G>A (p.Lys3169=)
c.9729G>A (p.Lys3243=)
c.9483G>A (p.Lys3161=)
c.4752G>A (p.Lys1584=)
c.2502G>A (p.Lys834=)
c.3465G>A (p.Lys1155=)
1g.197090980T>ACA344003244ASPMn.2793A>T
c.9506A>T (p.Lys3169Met)
c.9728A>T (p.Lys3243Met)
c.9482A>T (p.Lys3161Met)
c.4751A>T (p.Lys1584Met)
c.2501A>T (p.Lys834Met)
c.3464A>T (p.Lys1155Met)
1g.197090980T>CCA344003247ASPMn.2793A>G
c.9506A>G (p.Lys3169Arg)
c.9728A>G (p.Lys3243Arg)
c.9482A>G (p.Lys3161Arg)
c.4751A>G (p.Lys1584Arg)
c.2501A>G (p.Lys834Arg)
c.3464A>G (p.Lys1155Arg)
1g.197090980T>GCA344003251ASPMn.2793A>C
c.9506A>C (p.Lys3169Thr)
c.9728A>C (p.Lys3243Thr)
c.9482A>C (p.Lys3161Thr)
c.4751A>C (p.Lys1584Thr)
c.2501A>C (p.Lys834Thr)
c.3464A>C (p.Lys1155Thr)
 dbSNP gnomAD v4
1g.197090980T=CA1217925847ASPMn.2793A=
c.9506A= (p.Lys3169=)
c.9728A= (p.Lys3243=)
c.9482A= (p.Lys3161=)
c.4751A= (p.Lys1584=)
c.2501A= (p.Lys834=)
c.3464A= (p.Lys1155=)
1g.197090981T>ACA344003252ASPMn.2792A>T
c.9505A>T (p.Lys3169Ter)
c.9727A>T (p.Lys3243Ter)
c.9481A>T (p.Lys3161Ter)
c.4750A>T (p.Lys1584Ter)
c.2500A>T (p.Lys834Ter)
c.3463A>T (p.Lys1155Ter)
1g.197090981T>CCA344003254ASPMn.2792A>G
c.9505A>G (p.Lys3169Glu)
c.9727A>G (p.Lys3243Glu)
c.9481A>G (p.Lys3161Glu)
c.4750A>G (p.Lys1584Glu)
c.2500A>G (p.Lys834Glu)
c.3463A>G (p.Lys1155Glu)
1g.197090981T>GCA344003253ASPMn.2792A>C
c.9505A>C (p.Lys3169Gln)
c.9727A>C (p.Lys3243Gln)
c.9481A>C (p.Lys3161Gln)
c.4750A>C (p.Lys1584Gln)
c.2500A>C (p.Lys834Gln)
c.3463A>C (p.Lys1155Gln)
1g.197090982T>ACA344003257ASPMn.2791A>T
c.9504A>T (p.Lys3168Asn)
c.9726A>T (p.Lys3242Asn)
c.9480A>T (p.Lys3160Asn)
c.4749A>T (p.Lys1583Asn)
c.2499A>T (p.Lys833Asn)
c.3462A>T (p.Lys1154Asn)
1g.197090982T>CCA422672471ASPMn.2791A>G
c.9504A>G (p.Lys3168=)
c.9726A>G (p.Lys3242=)
c.9480A>G (p.Lys3160=)
c.4749A>G (p.Lys1583=)
c.2499A>G (p.Lys833=)
c.3462A>G (p.Lys1154=)
1g.197090982T>GCA344003259ASPMn.2791A>C
c.9504A>C (p.Lys3168Asn)
c.9726A>C (p.Lys3242Asn)
c.9480A>C (p.Lys3160Asn)
c.4749A>C (p.Lys1583Asn)
c.2499A>C (p.Lys833Asn)
c.3462A>C (p.Lys1154Asn)
 gnomAD v4
1g.197090983T>ACA344003264ASPMn.2790A>T
c.9503A>T (p.Lys3168Ile)
c.9725A>T (p.Lys3242Ile)
c.9479A>T (p.Lys3160Ile)
c.4748A>T (p.Lys1583Ile)
c.2498A>T (p.Lys833Ile)
c.3461A>T (p.Lys1154Ile)
1g.197090983T>CCA1308934ASPMn.2790A>G
c.9503A>G (p.Lys3168Arg)
c.9725A>G (p.Lys3242Arg)
c.9479A>G (p.Lys3160Arg)
c.4748A>G (p.Lys1583Arg)
c.2498A>G (p.Lys833Arg)
c.3461A>G (p.Lys1154Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090983T>GCA344003269ASPMn.2790A>C
c.9503A>C (p.Lys3168Thr)
c.9725A>C (p.Lys3242Thr)
c.9479A>C (p.Lys3160Thr)
c.4748A>C (p.Lys1583Thr)
c.2498A>C (p.Lys833Thr)
c.3461A>C (p.Lys1154Thr)
1g.197090983T=CA1217925850ASPMn.2790A=
c.9503A= (p.Lys3168=)
c.9725A= (p.Lys3242=)
c.9479A= (p.Lys3160=)
c.4748A= (p.Lys1583=)
c.2498A= (p.Lys833=)
c.3461A= (p.Lys1154=)
1g.197090984T>ACA344003274ASPMn.2789A>T
c.9502A>T (p.Lys3168Ter)
c.9724A>T (p.Lys3242Ter)
c.9478A>T (p.Lys3160Ter)
c.4747A>T (p.Lys1583Ter)
c.2497A>T (p.Lys833Ter)
c.3460A>T (p.Lys1154Ter)
1g.197090984T>CCA344003277ASPMn.2789A>G
c.9502A>G (p.Lys3168Glu)
c.9724A>G (p.Lys3242Glu)
c.9478A>G (p.Lys3160Glu)
c.4747A>G (p.Lys1583Glu)
c.2497A>G (p.Lys833Glu)
c.3460A>G (p.Lys1154Glu)
1g.197090984T>GCA344003279ASPMn.2789A>C
c.9502A>C (p.Lys3168Gln)
c.9724A>C (p.Lys3242Gln)
c.9478A>C (p.Lys3160Gln)
c.4747A>C (p.Lys1583Gln)
c.2497A>C (p.Lys833Gln)
c.3460A>C (p.Lys1154Gln)
1g.197090985G>ACA422672472ASPMn.2788C>T
c.9501C>T (p.Ile3167=)
c.9723C>T (p.Ile3241=)
c.9477C>T (p.Ile3159=)
c.4746C>T (p.Ile1582=)
c.2496C>T (p.Ile832=)
c.3459C>T (p.Ile1153=)
1g.197090985G>CCA344003283ASPMn.2788C>G
c.9501C>G (p.Ile3167Met)
c.9723C>G (p.Ile3241Met)
c.9477C>G (p.Ile3159Met)
c.4746C>G (p.Ile1582Met)
c.2496C>G (p.Ile832Met)
c.3459C>G (p.Ile1153Met)
1g.197090985G>TCA422672473ASPMn.2788C>A
c.9501C>A (p.Ile3167=)
c.9723C>A (p.Ile3241=)
c.9477C>A (p.Ile3159=)
c.4746C>A (p.Ile1582=)
c.2496C>A (p.Ile832=)
c.3459C>A (p.Ile1153=)
 gnomAD v4
1g.197090986A>CCA344003287ASPMn.2787T>G
c.9500T>G (p.Ile3167Ser)
c.9722T>G (p.Ile3241Ser)
c.9476T>G (p.Ile3159Ser)
c.4745T>G (p.Ile1582Ser)
c.2495T>G (p.Ile832Ser)
c.3458T>G (p.Ile1153Ser)
1g.197090986A>GCA344003289ASPMn.2787T>C
c.9500T>C (p.Ile3167Thr)
c.9722T>C (p.Ile3241Thr)
c.9476T>C (p.Ile3159Thr)
c.4745T>C (p.Ile1582Thr)
c.2495T>C (p.Ile832Thr)
c.3458T>C (p.Ile1153Thr)
1g.197090986A>TCA344003294ASPMn.2787T>A
c.9500T>A (p.Ile3167Asn)
c.9722T>A (p.Ile3241Asn)
c.9476T>A (p.Ile3159Asn)
c.4745T>A (p.Ile1582Asn)
c.2495T>A (p.Ile832Asn)
c.3458T>A (p.Ile1153Asn)
1g.197090987T>ACA344003301ASPMn.2786A>T
c.9499A>T (p.Ile3167Phe)
c.9721A>T (p.Ile3241Phe)
c.9475A>T (p.Ile3159Phe)
c.4744A>T (p.Ile1582Phe)
c.2494A>T (p.Ile832Phe)
c.3457A>T (p.Ile1153Phe)
1g.197090987T>CCA344003306ASPMn.2786A>G
c.9499A>G (p.Ile3167Val)
c.9721A>G (p.Ile3241Val)
c.9475A>G (p.Ile3159Val)
c.4744A>G (p.Ile1582Val)
c.2494A>G (p.Ile832Val)
c.3457A>G (p.Ile1153Val)
1g.197090987T>GCA344003304ASPMn.2786A>C
c.9499A>C (p.Ile3167Leu)
c.9721A>C (p.Ile3241Leu)
c.9475A>C (p.Ile3159Leu)
c.4744A>C (p.Ile1582Leu)
c.2494A>C (p.Ile832Leu)
c.3457A>C (p.Ile1153Leu)
1g.197090988G>ACA422672474ASPMn.2785C>T
c.9498C>T (p.Ser3166=)
c.9720C>T (p.Ser3240=)
c.9474C>T (p.Ser3158=)
c.4743C>T (p.Ser1581=)
c.2493C>T (p.Ser831=)
c.3456C>T (p.Ser1152=)
1g.197090988G>CCA344003311ASPMn.2785C>G
c.9498C>G (p.Ser3166Arg)
c.9720C>G (p.Ser3240Arg)
c.9474C>G (p.Ser3158Arg)
c.4743C>G (p.Ser1581Arg)
c.2493C>G (p.Ser831Arg)
c.3456C>G (p.Ser1152Arg)
1g.197090988G>TCA344003315ASPMn.2785C>A
c.9498C>A (p.Ser3166Arg)
c.9720C>A (p.Ser3240Arg)
c.9474C>A (p.Ser3158Arg)
c.4743C>A (p.Ser1581Arg)
c.2493C>A (p.Ser831Arg)
c.3456C>A (p.Ser1152Arg)
1g.197090989C>ACA344003319ASPMn.2784G>T
c.9497G>T (p.Ser3166Ile)
c.9719G>T (p.Ser3240Ile)
c.9473G>T (p.Ser3158Ile)
c.4742G>T (p.Ser1581Ile)
c.2492G>T (p.Ser831Ile)
c.3455G>T (p.Ser1152Ile)
1g.197090989C>GCA344003322ASPMn.2784G>C
c.9497G>C (p.Ser3166Thr)
c.9719G>C (p.Ser3240Thr)
c.9473G>C (p.Ser3158Thr)
c.4742G>C (p.Ser1581Thr)
c.2492G>C (p.Ser831Thr)
c.3455G>C (p.Ser1152Thr)
1g.197090989C>TCA344003324ASPMn.2784G>A
c.9497G>A (p.Ser3166Asn)
c.9719G>A (p.Ser3240Asn)
c.9473G>A (p.Ser3158Asn)
c.4742G>A (p.Ser1581Asn)
c.2492G>A (p.Ser831Asn)
c.3455G>A (p.Ser1152Asn)
1g.197090990T>ACA344003330ASPMn.2783A>T
c.9496A>T (p.Ser3166Cys)
c.9718A>T (p.Ser3240Cys)
c.9472A>T (p.Ser3158Cys)
c.4741A>T (p.Ser1581Cys)
c.2491A>T (p.Ser831Cys)
c.3454A>T (p.Ser1152Cys)
1g.197090990T>CCA344003335ASPMn.2783A>G
c.9496A>G (p.Ser3166Gly)
c.9718A>G (p.Ser3240Gly)
c.9472A>G (p.Ser3158Gly)
c.4741A>G (p.Ser1581Gly)
c.2491A>G (p.Ser831Gly)
c.3454A>G (p.Ser1152Gly)
1g.197090990T>GCA344003344ASPMn.2783A>C
c.9496A>C (p.Ser3166Arg)
c.9718A>C (p.Ser3240Arg)
c.9472A>C (p.Ser3158Arg)
c.4741A>C (p.Ser1581Arg)
c.2491A>C (p.Ser831Arg)
c.3454A>C (p.Ser1152Arg)
1g.197090991A>CCA344003349ASPMn.2782T>G
c.9495T>G (p.His3165Gln)
c.9717T>G (p.His3239Gln)
c.9471T>G (p.His3157Gln)
c.4740T>G (p.His1580Gln)
c.2490T>G (p.His830Gln)
c.3453T>G (p.His1151Gln)
1g.197090991A>GCA422672475ASPMn.2782T>C
c.9495T>C (p.His3165=)
c.9717T>C (p.His3239=)
c.9471T>C (p.His3157=)
c.4740T>C (p.His1580=)
c.2490T>C (p.His830=)
c.3453T>C (p.His1151=)
 gnomAD v4
1g.197090991A>TCA344003352ASPMn.2782T>A
c.9495T>A (p.His3165Gln)
c.9717T>A (p.His3239Gln)
c.9471T>A (p.His3157Gln)
c.4740T>A (p.His1580Gln)
c.2490T>A (p.His830Gln)
c.3453T>A (p.His1151Gln)
 gnomAD v4
1g.197090993_197090995delCA2649660859ASPMn.2780_2782del
c.9493_9495del (p.His3165del)
c.9715_9717del (p.His3239del)
c.9469_9471del (p.His3157del)
c.4738_4740del (p.His1580del)
c.2488_2490del (p.His830del)
c.3451_3453del (p.His1151del)
 gnomAD v4
1g.197090992T>ACA344003353ASPMn.2781A>T
c.9494A>T (p.His3165Leu)
c.9716A>T (p.His3239Leu)
c.9470A>T (p.His3157Leu)
c.4739A>T (p.His1580Leu)
c.2489A>T (p.His830Leu)
c.3452A>T (p.His1151Leu)
 gnomAD v4
1g.197090992T>CCA1308935ASPMn.2781A>G
c.9494A>G (p.His3165Arg)
c.9716A>G (p.His3239Arg)
c.9470A>G (p.His3157Arg)
c.4739A>G (p.His1580Arg)
c.2489A>G (p.His830Arg)
c.3452A>G (p.His1151Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090992T>GCA344003358ASPMn.2781A>C
c.9494A>C (p.His3165Pro)
c.9716A>C (p.His3239Pro)
c.9470A>C (p.His3157Pro)
c.4739A>C (p.His1580Pro)
c.2489A>C (p.His830Pro)
c.3452A>C (p.His1151Pro)
1g.197090992T=CA1217925853ASPMn.2781A=
c.9494A= (p.His3165=)
c.9716A= (p.His3239=)
c.9470A= (p.His3157=)
c.4739A= (p.His1580=)
c.2489A= (p.His830=)
c.3452A= (p.His1151=)
1g.197090993G>ACA344003372ASPMn.2780C>T
c.9493C>T (p.His3165Tyr)
c.9715C>T (p.His3239Tyr)
c.9469C>T (p.His3157Tyr)
c.4738C>T (p.His1580Tyr)
c.2488C>T (p.His830Tyr)
c.3451C>T (p.His1151Tyr)
1g.197090993G>CCA344003363ASPMn.2780C>G
c.9493C>G (p.His3165Asp)
c.9715C>G (p.His3239Asp)
c.9469C>G (p.His3157Asp)
c.4738C>G (p.His1580Asp)
c.2488C>G (p.His830Asp)
c.3451C>G (p.His1151Asp)
1g.197090993G>TCA344003370ASPMn.2780C>A
c.9493C>A (p.His3165Asn)
c.9715C>A (p.His3239Asn)
c.9469C>A (p.His3157Asn)
c.4738C>A (p.His1580Asn)
c.2488C>A (p.His830Asn)
c.3451C>A (p.His1151Asn)
1g.197090994A=CA1141960441ASPMn.2779T=
c.9492T= (p.Tyr3164=)
c.9714T= (p.Tyr3238=)
c.9468T= (p.Tyr3156=)
c.4737T= (p.Tyr1579=)
c.2487T= (p.Tyr829=)
c.3450T= (p.Tyr1150=)
1g.197090994A>CCA342297ASPMn.2779T>G
c.9492T>G (p.Tyr3164Ter)
c.9714T>G (p.Tyr3238Ter)
c.9468T>G (p.Tyr3156Ter)
c.4737T>G (p.Tyr1579Ter)
c.2487T>G (p.Tyr829Ter)
c.3450T>G (p.Tyr1150Ter)
 ClinVar dbSNP gnomAD v4
1g.197090994A>GCA271151ASPMn.2779T>C
c.9492T>C (p.Tyr3164=)
c.9714T>C (p.Tyr3238=)
c.9468T>C (p.Tyr3156=)
c.4737T>C (p.Tyr1579=)
c.2487T>C (p.Tyr829=)
c.3450T>C (p.Tyr1150=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090994A>TCA344003382ASPMn.2779T>A
c.9492T>A (p.Tyr3164Ter)
c.9714T>A (p.Tyr3238Ter)
c.9468T>A (p.Tyr3156Ter)
c.4737T>A (p.Tyr1579Ter)
c.2487T>A (p.Tyr829Ter)
c.3450T>A (p.Tyr1150Ter)
1g.197090995T>ACA344003385ASPMn.2778A>T
c.9491A>T (p.Tyr3164Phe)
c.9713A>T (p.Tyr3238Phe)
c.9467A>T (p.Tyr3156Phe)
c.4736A>T (p.Tyr1579Phe)
c.2486A>T (p.Tyr829Phe)
c.3449A>T (p.Tyr1150Phe)
1g.197090995T>CCA344003387ASPMn.2778A>G
c.9491A>G (p.Tyr3164Cys)
c.9713A>G (p.Tyr3238Cys)
c.9467A>G (p.Tyr3156Cys)
c.4736A>G (p.Tyr1579Cys)
c.2486A>G (p.Tyr829Cys)
c.3449A>G (p.Tyr1150Cys)
 dbSNP gnomAD v4
1g.197090995T>GCA344003391ASPMn.2778A>C
c.9491A>C (p.Tyr3164Ser)
c.9713A>C (p.Tyr3238Ser)
c.9467A>C (p.Tyr3156Ser)
c.4736A>C (p.Tyr1579Ser)
c.2486A>C (p.Tyr829Ser)
c.3449A>C (p.Tyr1150Ser)
1g.197090995T=CA1217925862ASPMn.2778A=
c.9491A= (p.Tyr3164=)
c.9713A= (p.Tyr3238=)
c.9467A= (p.Tyr3156=)
c.4736A= (p.Tyr1579=)
c.2486A= (p.Tyr829=)
c.3449A= (p.Tyr1150=)
1g.197090996A>CCA344003396ASPMn.2777T>G
c.9490T>G (p.Tyr3164Asp)
c.9712T>G (p.Tyr3238Asp)
c.9466T>G (p.Tyr3156Asp)
c.4735T>G (p.Tyr1579Asp)
c.2485T>G (p.Tyr829Asp)
c.3448T>G (p.Tyr1150Asp)
1g.197090996A>GCA344003399ASPMn.2777T>C
c.9490T>C (p.Tyr3164His)
c.9712T>C (p.Tyr3238His)
c.9466T>C (p.Tyr3156His)
c.4735T>C (p.Tyr1579His)
c.2485T>C (p.Tyr829His)
c.3448T>C (p.Tyr1150His)
1g.197090996A>TCA344003404ASPMn.2777T>A
c.9490T>A (p.Tyr3164Asn)
c.9712T>A (p.Tyr3238Asn)
c.9466T>A (p.Tyr3156Asn)
c.4735T>A (p.Tyr1579Asn)
c.2485T>A (p.Tyr829Asn)
c.3448T>A (p.Tyr1150Asn)
1g.197090997T>ACA344003409ASPMn.2776A>T
c.9489A>T (p.Lys3163Asn)
c.9711A>T (p.Lys3237Asn)
c.9465A>T (p.Lys3155Asn)
c.4734A>T (p.Lys1578Asn)
c.2484A>T (p.Lys828Asn)
c.3447A>T (p.Lys1149Asn)
1g.197090997T>CCA422672476ASPMn.2776A>G
c.9489A>G (p.Lys3163=)
c.9711A>G (p.Lys3237=)
c.9465A>G (p.Lys3155=)
c.4734A>G (p.Lys1578=)
c.2484A>G (p.Lys828=)
c.3447A>G (p.Lys1149=)
1g.197090997T>GCA344003414ASPMn.2776A>C
c.9489A>C (p.Lys3163Asn)
c.9711A>C (p.Lys3237Asn)
c.9465A>C (p.Lys3155Asn)
c.4734A>C (p.Lys1578Asn)
c.2484A>C (p.Lys828Asn)
c.3447A>C (p.Lys1149Asn)
1g.197090998T>ACA344003421ASPMn.2775A>T
c.9488A>T (p.Lys3163Ile)
c.9710A>T (p.Lys3237Ile)
c.9464A>T (p.Lys3155Ile)
c.4733A>T (p.Lys1578Ile)
c.2483A>T (p.Lys828Ile)
c.3446A>T (p.Lys1149Ile)
1g.197090998T>CCA344003427ASPMn.2775A>G
c.9488A>G (p.Lys3163Arg)
c.9710A>G (p.Lys3237Arg)
c.9464A>G (p.Lys3155Arg)
c.4733A>G (p.Lys1578Arg)
c.2483A>G (p.Lys828Arg)
c.3446A>G (p.Lys1149Arg)
1g.197090998T>GCA344003425ASPMn.2775A>C
c.9488A>C (p.Lys3163Thr)
c.9710A>C (p.Lys3237Thr)
c.9464A>C (p.Lys3155Thr)
c.4733A>C (p.Lys1578Thr)
c.2483A>C (p.Lys828Thr)
c.3446A>C (p.Lys1149Thr)
1g.197090999T>ACA344003431ASPMn.2774A>T
c.9487A>T (p.Lys3163Ter)
c.9709A>T (p.Lys3237Ter)
c.9463A>T (p.Lys3155Ter)
c.4732A>T (p.Lys1578Ter)
c.2482A>T (p.Lys828Ter)
c.3445A>T (p.Lys1149Ter)
1g.197090999T>CCA344003436ASPMn.2774A>G
c.9487A>G (p.Lys3163Glu)
c.9709A>G (p.Lys3237Glu)
c.9463A>G (p.Lys3155Glu)
c.4732A>G (p.Lys1578Glu)
c.2482A>G (p.Lys828Glu)
c.3445A>G (p.Lys1149Glu)
1g.197090999T>GCA344003434ASPMn.2774A>C
c.9487A>C (p.Lys3163Gln)
c.9709A>C (p.Lys3237Gln)
c.9463A>C (p.Lys3155Gln)
c.4732A>C (p.Lys1578Gln)
c.2482A>C (p.Lys828Gln)
c.3445A>C (p.Lys1149Gln)
 gnomAD v4
1g.197091000C>ACA344003438ASPMn.2773G>T
c.9486G>T (p.Gln3162His)
c.9708G>T (p.Gln3236His)
c.9462G>T (p.Gln3154His)
c.4731G>T (p.Gln1577His)
c.2481G>T (p.Gln827His)
c.3444G>T (p.Gln1148His)
1g.197091000C>GCA344003445ASPMn.2773G>C
c.9486G>C (p.Gln3162His)
c.9708G>C (p.Gln3236His)
c.9462G>C (p.Gln3154His)
c.4731G>C (p.Gln1577His)
c.2481G>C (p.Gln827His)
c.3444G>C (p.Gln1148His)
1g.197091000C>TCA422672477ASPMn.2773G>A
c.9486G>A (p.Gln3162=)
c.9708G>A (p.Gln3236=)
c.9462G>A (p.Gln3154=)
c.4731G>A (p.Gln1577=)
c.2481G>A (p.Gln827=)
c.3444G>A (p.Gln1148=)
1g.197091001T>ACA344003452ASPMn.2772A>T
c.9485A>T (p.Gln3162Leu)
c.9707A>T (p.Gln3236Leu)
c.9461A>T (p.Gln3154Leu)
c.4730A>T (p.Gln1577Leu)
c.2480A>T (p.Gln827Leu)
c.3443A>T (p.Gln1148Leu)
1g.197091001T>CCA344003454ASPMn.2772A>G
c.9485A>G (p.Gln3162Arg)
c.9707A>G (p.Gln3236Arg)
c.9461A>G (p.Gln3154Arg)
c.4730A>G (p.Gln1577Arg)
c.2480A>G (p.Gln827Arg)
c.3443A>G (p.Gln1148Arg)
 gnomAD v4
1g.197091001T>GCA344003459ASPMn.2772A>C
c.9485A>C (p.Gln3162Pro)
c.9707A>C (p.Gln3236Pro)
c.9461A>C (p.Gln3154Pro)
c.4730A>C (p.Gln1577Pro)
c.2480A>C (p.Gln827Pro)
c.3443A>C (p.Gln1148Pro)
1g.197091002G>ACA344003464ASPMn.2771C>T
c.9484C>T (p.Gln3162Ter)
c.9706C>T (p.Gln3236Ter)
c.9460C>T (p.Gln3154Ter)
c.4729C>T (p.Gln1577Ter)
c.2479C>T (p.Gln827Ter)
c.3442C>T (p.Gln1148Ter)
1g.197091002G>CCA344003467ASPMn.2771C>G
c.9484C>G (p.Gln3162Glu)
c.9706C>G (p.Gln3236Glu)
c.9460C>G (p.Gln3154Glu)
c.4729C>G (p.Gln1577Glu)
c.2479C>G (p.Gln827Glu)
c.3442C>G (p.Gln1148Glu)
1g.197091002G>TCA344003470ASPMn.2771C>A
c.9484C>A (p.Gln3162Lys)
c.9706C>A (p.Gln3236Lys)
c.9460C>A (p.Gln3154Lys)
c.4729C>A (p.Gln1577Lys)
c.2479C>A (p.Gln827Lys)
c.3442C>A (p.Gln1148Lys)
1g.197091003A>CCA344003473ASPMn.2770T>G
c.9483T>G (p.Ile3161Met)
c.9705T>G (p.Ile3235Met)
c.9459T>G (p.Ile3153Met)
c.4728T>G (p.Ile1576Met)
c.2478T>G (p.Ile826Met)
c.3441T>G (p.Ile1147Met)
1g.197091003A>GCA422672478ASPMn.2770T>C
c.9483T>C (p.Ile3161=)
c.9705T>C (p.Ile3235=)
c.9459T>C (p.Ile3153=)
c.4728T>C (p.Ile1576=)
c.2478T>C (p.Ile826=)
c.3441T>C (p.Ile1147=)
1g.197091003A>TCA422672479ASPMn.2770T>A
c.9483T>A (p.Ile3161=)
c.9705T>A (p.Ile3235=)
c.9459T>A (p.Ile3153=)
c.4728T>A (p.Ile1576=)
c.2478T>A (p.Ile826=)
c.3441T>A (p.Ile1147=)
1g.197091004A=CA1217925864ASPMn.2769T=
c.9482T= (p.Ile3161=)
c.9704T= (p.Ile3235=)
c.9458T= (p.Ile3153=)
c.4727T= (p.Ile1576=)
c.2477T= (p.Ile826=)
c.3440T= (p.Ile1147=)
1g.197091004A>CCA344003477ASPMn.2769T>G
c.9482T>G (p.Ile3161Ser)
c.9704T>G (p.Ile3235Ser)
c.9458T>G (p.Ile3153Ser)
c.4727T>G (p.Ile1576Ser)
c.2477T>G (p.Ile826Ser)
c.3440T>G (p.Ile1147Ser)
1g.197091004A>GCA344003480ASPMn.2769T>C
c.9482T>C (p.Ile3161Thr)
c.9704T>C (p.Ile3235Thr)
c.9458T>C (p.Ile3153Thr)
c.4727T>C (p.Ile1576Thr)
c.2477T>C (p.Ile826Thr)
c.3440T>C (p.Ile1147Thr)
 gnomAD v4
1g.197091004A>TCA1308936ASPMn.2769T>A
c.9482T>A (p.Ile3161Asn)
c.9704T>A (p.Ile3235Asn)
c.9458T>A (p.Ile3153Asn)
c.4727T>A (p.Ile1576Asn)
c.2477T>A (p.Ile826Asn)
c.3440T>A (p.Ile1147Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197091005T>ACA344003489ASPMn.2768A>T
c.9481A>T (p.Ile3161Phe)
c.9703A>T (p.Ile3235Phe)
c.9457A>T (p.Ile3153Phe)
c.4726A>T (p.Ile1576Phe)
c.2476A>T (p.Ile826Phe)
c.3439A>T (p.Ile1147Phe)
1g.197091005T>CCA344003485ASPMn.2768A>G
c.9481A>G (p.Ile3161Val)
c.9703A>G (p.Ile3235Val)
c.9457A>G (p.Ile3153Val)
c.4726A>G (p.Ile1576Val)
c.2476A>G (p.Ile826Val)
c.3439A>G (p.Ile1147Val)
1g.197091005T>GCA344003486ASPMn.2768A>C
c.9481A>C (p.Ile3161Leu)
c.9703A>C (p.Ile3235Leu)
c.9457A>C (p.Ile3153Leu)
c.4726A>C (p.Ile1576Leu)
c.2476A>C (p.Ile826Leu)
c.3439A>C (p.Ile1147Leu)
1g.197091006A=CA1143875439ASPMn.2767T=
c.9480T= (p.Phe3160=)
c.9702T= (p.Phe3234=)
c.9456T= (p.Phe3152=)
c.4725T= (p.Phe1575=)
c.2475T= (p.Phe825=)
c.3438T= (p.Phe1146=)
1g.197091006A>CCA1308937ASPMn.2767T>G
c.9480T>G (p.Phe3160Leu)
c.9702T>G (p.Phe3234Leu)
c.9456T>G (p.Phe3152Leu)
c.4725T>G (p.Phe1575Leu)
c.2475T>G (p.Phe825Leu)
c.3438T>G (p.Phe1146Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197091006A>GCA422672480ASPMn.2767T>C
c.9480T>C (p.Phe3160=)
c.9702T>C (p.Phe3234=)
c.9456T>C (p.Phe3152=)
c.4725T>C (p.Phe1575=)
c.2475T>C (p.Phe825=)
c.3438T>C (p.Phe1146=)
1g.197091006A>TCA35862260ASPMn.2767T>A
c.9480T>A (p.Phe3160Leu)
c.9702T>A (p.Phe3234Leu)
c.9456T>A (p.Phe3152Leu)
c.4725T>A (p.Phe1575Leu)
c.2475T>A (p.Phe825Leu)
c.3438T>A (p.Phe1146Leu)
 dbSNP gnomAD v4
1g.197091007A>CCA344003501ASPMn.2766T>G
c.9479T>G (p.Phe3160Cys)
c.9701T>G (p.Phe3234Cys)
c.9455T>G (p.Phe3152Cys)
c.4724T>G (p.Phe1575Cys)
c.2474T>G (p.Phe825Cys)
c.3437T>G (p.Phe1146Cys)
1g.197091007A>GCA344003502ASPMn.2766T>C
c.9479T>C (p.Phe3160Ser)
c.9701T>C (p.Phe3234Ser)
c.9455T>C (p.Phe3152Ser)
c.4724T>C (p.Phe1575Ser)
c.2474T>C (p.Phe825Ser)
c.3437T>C (p.Phe1146Ser)
1g.197091007A>TCA344003507ASPMn.2766T>A
c.9479T>A (p.Phe3160Tyr)
c.9701T>A (p.Phe3234Tyr)
c.9455T>A (p.Phe3152Tyr)
c.4724T>A (p.Phe1575Tyr)
c.2474T>A (p.Phe825Tyr)
c.3437T>A (p.Phe1146Tyr)
1g.197091008A>CCA344003526ASPMn.2765T>G
c.9478T>G (p.Phe3160Val)
c.9700T>G (p.Phe3234Val)
c.9454T>G (p.Phe3152Val)
c.4723T>G (p.Phe1575Val)
c.2473T>G (p.Phe825Val)
c.3436T>G (p.Phe1146Val)
1g.197091008A>GCA344003530ASPMn.2765T>C
c.9478T>C (p.Phe3160Leu)
c.9700T>C (p.Phe3234Leu)
c.9454T>C (p.Phe3152Leu)
c.4723T>C (p.Phe1575Leu)
c.2473T>C (p.Phe825Leu)
c.3436T>C (p.Phe1146Leu)
1g.197091008A>TCA344003542ASPMn.2765T>A
c.9478T>A (p.Phe3160Ile)
c.9700T>A (p.Phe3234Ile)
c.9454T>A (p.Phe3152Ile)
c.4723T>A (p.Phe1575Ile)
c.2473T>A (p.Phe825Ile)
c.3436T>A (p.Phe1146Ile)
1g.197091009T>ACA344003546ASPMn.2764A>T
c.9477A>T (p.Arg3159Ser)
c.9699A>T (p.Arg3233Ser)
c.9453A>T (p.Arg3151Ser)
c.4722A>T (p.Arg1574Ser)
c.2472A>T (p.Arg824Ser)
c.3435A>T (p.Arg1145Ser)
1g.197091009T>CCA422672481ASPMn.2764A>G
c.9477A>G (p.Arg3159=)
c.9699A>G (p.Arg3233=)
c.9453A>G (p.Arg3151=)
c.4722A>G (p.Arg1574=)
c.2472A>G (p.Arg824=)
c.3435A>G (p.Arg1145=)
1g.197091009T>GCA344003549ASPMn.2764A>C
c.9477A>C (p.Arg3159Ser)
c.9699A>C (p.Arg3233Ser)
c.9453A>C (p.Arg3151Ser)
c.4722A>C (p.Arg1574Ser)
c.2472A>C (p.Arg824Ser)
c.3435A>C (p.Arg1145Ser)
1g.197091010C>ACA344003564ASPMn.2763G>T
c.9476G>T (p.Arg3159Ile)
c.9698G>T (p.Arg3233Ile)
c.9452G>T (p.Arg3151Ile)
c.4721G>T (p.Arg1574Ile)
c.2471G>T (p.Arg824Ile)
c.3434G>T (p.Arg1145Ile)
1g.197091010C>GCA344003563ASPMn.2763G>C
c.9476G>C (p.Arg3159Thr)
c.9698G>C (p.Arg3233Thr)
c.9452G>C (p.Arg3151Thr)
c.4721G>C (p.Arg1574Thr)
c.2471G>C (p.Arg824Thr)
c.3434G>C (p.Arg1145Thr)
1g.197091010C>TCA344003562ASPMn.2763G>A
c.9476G>A (p.Arg3159Lys)
c.9698G>A (p.Arg3233Lys)
c.9452G>A (p.Arg3151Lys)
c.4721G>A (p.Arg1574Lys)
c.2471G>A (p.Arg824Lys)
c.3434G>A (p.Arg1145Lys)
 COSMIC
1g.197091011T>ACA344003569ASPMn.2762A>T
c.9475A>T (p.Arg3159Ter)
c.9697A>T (p.Arg3233Ter)
c.9451A>T (p.Arg3151Ter)
c.4720A>T (p.Arg1574Ter)
c.2470A>T (p.Arg824Ter)
c.3433A>T (p.Arg1145Ter)
1g.197091011T>CCA344003570ASPMn.2762A>G
c.9475A>G (p.Arg3159Gly)
c.9697A>G (p.Arg3233Gly)
c.9451A>G (p.Arg3151Gly)
c.4720A>G (p.Arg1574Gly)
c.2470A>G (p.Arg824Gly)
c.3433A>G (p.Arg1145Gly)
1g.197091011T>GCA422672482ASPMn.2762A>C
c.9475A>C (p.Arg3159=)
c.9697A>C (p.Arg3233=)
c.9451A>C (p.Arg3151=)
c.4720A>C (p.Arg1574=)
c.2470A>C (p.Arg824=)
c.3433A>C (p.Arg1145=)
1g.197091012C>ACA344003574ASPMn.2761G>T
c.9474G>T (p.Lys3158Asn)
c.9696G>T (p.Lys3232Asn)
c.9450G>T (p.Lys3150Asn)
c.4719G>T (p.Lys1573Asn)
c.2469G>T (p.Lys823Asn)
c.3432G>T (p.Lys1144Asn)
 COSMIC
1g.197091012C>GCA344003579ASPMn.2761G>C
c.9474G>C (p.Lys3158Asn)
c.9696G>C (p.Lys3232Asn)
c.9450G>C (p.Lys3150Asn)
c.4719G>C (p.Lys1573Asn)
c.2469G>C (p.Lys823Asn)
c.3432G>C (p.Lys1144Asn)
1g.197091012C>TCA422672483ASPMn.2761G>A
c.9474G>A (p.Lys3158=)
c.9696G>A (p.Lys3232=)
c.9450G>A (p.Lys3150=)
c.4719G>A (p.Lys1573=)
c.2469G>A (p.Lys823=)
c.3432G>A (p.Lys1144=)
1g.197091013T>ACA344003589ASPMn.2760A>T
c.9473A>T (p.Lys3158Met)
c.9695A>T (p.Lys3232Met)
c.9449A>T (p.Lys3150Met)
c.4718A>T (p.Lys1573Met)
c.2468A>T (p.Lys823Met)
c.3431A>T (p.Lys1144Met)
1g.197091013T>CCA344003593ASPMn.2760A>G
c.9473A>G (p.Lys3158Arg)
c.9695A>G (p.Lys3232Arg)
c.9449A>G (p.Lys3150Arg)
c.4718A>G (p.Lys1573Arg)
c.2468A>G (p.Lys823Arg)
c.3431A>G (p.Lys1144Arg)
1g.197091013T>GCA344003595ASPMn.2760A>C
c.9473A>C (p.Lys3158Thr)
c.9695A>C (p.Lys3232Thr)
c.9449A>C (p.Lys3150Thr)
c.4718A>C (p.Lys1573Thr)
c.2468A>C (p.Lys823Thr)
c.3431A>C (p.Lys1144Thr)
1g.197091014T>ACA344003601ASPMn.2759A>T
c.9472A>T (p.Lys3158Ter)
c.9694A>T (p.Lys3232Ter)
c.9448A>T (p.Lys3150Ter)
c.4717A>T (p.Lys1573Ter)
c.2467A>T (p.Lys823Ter)
c.3430A>T (p.Lys1144Ter)
1g.197091014T>CCA344003603ASPMn.2759A>G
c.9472A>G (p.Lys3158Glu)
c.9694A>G (p.Lys3232Glu)
c.9448A>G (p.Lys3150Glu)
c.4717A>G (p.Lys1573Glu)
c.2467A>G (p.Lys823Glu)
c.3430A>G (p.Lys1144Glu)
1g.197091014T>GCA344003606ASPMn.2759A>C
c.9472A>C (p.Lys3158Gln)
c.9694A>C (p.Lys3232Gln)
c.9448A>C (p.Lys3150Gln)
c.4717A>C (p.Lys1573Gln)
c.2467A>C (p.Lys823Gln)
c.3430A>C (p.Lys1144Gln)
1g.197091015T>ACA344003610ASPMn.2758A>T
c.9471A>T (p.Glu3157Asp)
c.9693A>T (p.Glu3231Asp)
c.9447A>T (p.Glu3149Asp)
c.4716A>T (p.Glu1572Asp)
c.2466A>T (p.Glu822Asp)
c.3429A>T (p.Glu1143Asp)
1g.197091015T>CCA1308938ASPMn.2758A>G
c.9471A>G (p.Glu3157=)
c.9693A>G (p.Glu3231=)
c.9447A>G (p.Glu3149=)
c.4716A>G (p.Glu1572=)
c.2466A>G (p.Glu822=)
c.3429A>G (p.Glu1143=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197091015T>GCA344003616ASPMn.2758A>C
c.9471A>C (p.Glu3157Asp)
c.9693A>C (p.Glu3231Asp)
c.9447A>C (p.Glu3149Asp)
c.4716A>C (p.Glu1572Asp)
c.2466A>C (p.Glu822Asp)
c.3429A>C (p.Glu1143Asp)
1g.197091015T=CA1217925872ASPMn.2758A=
c.9471A= (p.Glu3157=)
c.9693A= (p.Glu3231=)
c.9447A= (p.Glu3149=)
c.4716A= (p.Glu1572=)
c.2466A= (p.Glu822=)
c.3429A= (p.Glu1143=)
1g.197091016T>ACA344003620ASPMn.2757A>T
c.9470A>T (p.Glu3157Val)
c.9692A>T (p.Glu3231Val)
c.9446A>T (p.Glu3149Val)
c.4715A>T (p.Glu1572Val)
c.2465A>T (p.Glu822Val)
c.3428A>T (p.Glu1143Val)
1g.197091016T>CCA344003622ASPMn.2757A>G
c.9470A>G (p.Glu3157Gly)
c.9692A>G (p.Glu3231Gly)
c.9446A>G (p.Glu3149Gly)
c.4715A>G (p.Glu1572Gly)
c.2465A>G (p.Glu822Gly)
c.3428A>G (p.Glu1143Gly)
1g.197091016T>GCA344003621ASPMn.2757A>C
c.9470A>C (p.Glu3157Ala)
c.9692A>C (p.Glu3231Ala)
c.9446A>C (p.Glu3149Ala)
c.4715A>C (p.Glu1572Ala)
c.2465A>C (p.Glu822Ala)
c.3428A>C (p.Glu1143Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.197091016T=CA1217925877ASPMn.2757A=
c.9470A= (p.Glu3157=)
c.9692A= (p.Glu3231=)
c.9446A= (p.Glu3149=)
c.4715A= (p.Glu1572=)
c.2465A= (p.Glu822=)
c.3428A= (p.Glu1143=)
1g.197091017C>ACA344003624ASPMn.2756G>T
c.9469G>T (p.Glu3157Ter)
c.9691G>T (p.Glu3231Ter)
c.9445G>T (p.Glu3149Ter)
c.4714G>T (p.Glu1572Ter)
c.2464G>T (p.Glu822Ter)
c.3427G>T (p.Glu1143Ter)
1g.197091017C>GCA344003634ASPMn.2756G>C
c.9469G>C (p.Glu3157Gln)
c.9691G>C (p.Glu3231Gln)
c.9445G>C (p.Glu3149Gln)
c.4714G>C (p.Glu1572Gln)
c.2464G>C (p.Glu822Gln)
c.3427G>C (p.Glu1143Gln)
1g.197091017C>TCA344003637ASPMn.2756G>A
c.9469G>A (p.Glu3157Lys)
c.9691G>A (p.Glu3231Lys)
c.9445G>A (p.Glu3149Lys)
c.4714G>A (p.Glu1572Lys)
c.2464G>A (p.Glu822Lys)
c.3427G>A (p.Glu1143Lys)
1g.197091018T>ACA344003640ASPMn.2755A>T
c.9468A>T (p.Gln3156His)
c.9690A>T (p.Gln3230His)
c.9444A>T (p.Gln3148His)
c.4713A>T (p.Gln1571His)
c.2463A>T (p.Gln821His)
c.3426A>T (p.Gln1142His)
1g.197091018T>CCA422672484ASPMn.2755A>G
c.9468A>G (p.Gln3156=)
c.9690A>G (p.Gln3230=)
c.9444A>G (p.Gln3148=)
c.4713A>G (p.Gln1571=)
c.2463A>G (p.Gln821=)
c.3426A>G (p.Gln1142=)
 dbSNP gnomAD v2 gnomAD v4
1g.197091018T>GCA344003642ASPMn.2755A>C
c.9468A>C (p.Gln3156His)
c.9690A>C (p.Gln3230His)
c.9444A>C (p.Gln3148His)
c.4713A>C (p.Gln1571His)
c.2463A>C (p.Gln821His)
c.3426A>C (p.Gln1142His)
1g.197091018T=CA1217925880ASPMn.2755A=
c.9468A= (p.Gln3156=)
c.9690A= (p.Gln3230=)
c.9444A= (p.Gln3148=)
c.4713A= (p.Gln1571=)
c.2463A= (p.Gln821=)
c.3426A= (p.Gln1142=)
1g.197091019T>ACA344003644ASPMn.2754A>T
c.9467A>T (p.Gln3156Leu)
c.9689A>T (p.Gln3230Leu)
c.9443A>T (p.Gln3148Leu)
c.4712A>T (p.Gln1571Leu)
c.2462A>T (p.Gln821Leu)
c.3425A>T (p.Gln1142Leu)
1g.197091019T>CCA344003647ASPMn.2754A>G
c.9467A>G (p.Gln3156Arg)
c.9689A>G (p.Gln3230Arg)
c.9443A>G (p.Gln3148Arg)
c.4712A>G (p.Gln1571Arg)
c.2462A>G (p.Gln821Arg)
c.3425A>G (p.Gln1142Arg)
1g.197091019T>GCA344003650ASPMn.2754A>C
c.9467A>C (p.Gln3156Pro)
c.9689A>C (p.Gln3230Pro)
c.9443A>C (p.Gln3148Pro)
c.4712A>C (p.Gln1571Pro)
c.2462A>C (p.Gln821Pro)
c.3425A>C (p.Gln1142Pro)
1g.197091020G>ACA344003652ASPMn.2753C>T
c.9466C>T (p.Gln3156Ter)
c.9688C>T (p.Gln3230Ter)
c.9442C>T (p.Gln3148Ter)
c.4711C>T (p.Gln1571Ter)
c.2461C>T (p.Gln821Ter)
c.3424C>T (p.Gln1142Ter)
1g.197091020G>CCA344003653ASPMn.2753C>G
c.9466C>G (p.Gln3156Glu)
c.9688C>G (p.Gln3230Glu)
c.9442C>G (p.Gln3148Glu)
c.4711C>G (p.Gln1571Glu)
c.2461C>G (p.Gln821Glu)
c.3424C>G (p.Gln1142Glu)
1g.197091020G>TCA344003655ASPMn.2753C>A
c.9466C>A (p.Gln3156Lys)
c.9688C>A (p.Gln3230Lys)
c.9442C>A (p.Gln3148Lys)
c.4711C>A (p.Gln1571Lys)
c.2461C>A (p.Gln821Lys)
c.3424C>A (p.Gln1142Lys)
1g.197091021T>ACA344003658ASPMn.2752A>T
c.9465A>T (p.Leu3155Phe)
c.9687A>T (p.Leu3229Phe)
c.9441A>T (p.Leu3147Phe)
c.4710A>T (p.Leu1570Phe)
c.2460A>T (p.Leu820Phe)
c.3423A>T (p.Leu1141Phe)
1g.197091021T>CCA422672485ASPMn.2752A>G
c.9465A>G (p.Leu3155=)
c.9687A>G (p.Leu3229=)
c.9441A>G (p.Leu3147=)
c.4710A>G (p.Leu1570=)
c.2460A>G (p.Leu820=)
c.3423A>G (p.Leu1141=)
 gnomAD v4
1g.197091021T>GCA344003657ASPMn.2752A>C
c.9465A>C (p.Leu3155Phe)
c.9687A>C (p.Leu3229Phe)
c.9441A>C (p.Leu3147Phe)
c.4710A>C (p.Leu1570Phe)
c.2460A>C (p.Leu820Phe)
c.3423A>C (p.Leu1141Phe)
1g.197091022A=CA1217925882ASPMn.2751T=
c.9464T= (p.Leu3155=)
c.9686T= (p.Leu3229=)
c.9440T= (p.Leu3147=)
c.4709T= (p.Leu1570=)
c.2459T= (p.Leu820=)
c.3422T= (p.Leu1141=)
1g.197091022A>CCA344003661ASPMn.2751T>G
c.9464T>G (p.Leu3155Ter)
c.9686T>G (p.Leu3229Ter)
c.9440T>G (p.Leu3147Ter)
c.4709T>G (p.Leu1570Ter)
c.2459T>G (p.Leu820Ter)
c.3422T>G (p.Leu1141Ter)
1g.197091022A>GCA1308939ASPMn.2751T>C
c.9464T>C (p.Leu3155Ser)
c.9686T>C (p.Leu3229Ser)
c.9440T>C (p.Leu3147Ser)
c.4709T>C (p.Leu1570Ser)
c.2459T>C (p.Leu820Ser)
c.3422T>C (p.Leu1141Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197091022A>TCA344003665ASPMn.2751T>A
c.9464T>A (p.Leu3155Ter)
c.9686T>A (p.Leu3229Ter)
c.9440T>A (p.Leu3147Ter)
c.4709T>A (p.Leu1570Ter)
c.2459T>A (p.Leu820Ter)
c.3422T>A (p.Leu1141Ter)
1g.197091023A=CA1143757814ASPMn.2750T=
c.9463T= (p.Leu3155=)
c.9685T= (p.Leu3229=)
c.9439T= (p.Leu3147=)
c.4708T= (p.Leu1570=)
c.2458T= (p.Leu820=)
c.3421T= (p.Leu1141=)
1g.197091023A>CCA1308940ASPMn.2750T>G
c.9463T>G (p.Leu3155Val)
c.9685T>G (p.Leu3229Val)
c.9439T>G (p.Leu3147Val)
c.4708T>G (p.Leu1570Val)
c.2458T>G (p.Leu820Val)
c.3421T>G (p.Leu1141Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197091023A>GCA422672486ASPMn.2750T>C
c.9463T>C (p.Leu3155=)
c.9685T>C (p.Leu3229=)
c.9439T>C (p.Leu3147=)
c.4708T>C (p.Leu1570=)
c.2458T>C (p.Leu820=)
c.3421T>C (p.Leu1141=)
1g.197091023A>TCA344003673ASPMn.2750T>A
c.9463T>A (p.Leu3155Ile)
c.9685T>A (p.Leu3229Ile)
c.9439T>A (p.Leu3147Ile)
c.4708T>A (p.Leu1570Ile)
c.2458T>A (p.Leu820Ile)
c.3421T>A (p.Leu1141Ile)
1g.197091024T>ACA344003677ASPMn.2749A>T
c.9462A>T (p.Arg3154Ser)
c.9684A>T (p.Arg3228Ser)
c.9438A>T (p.Arg3146Ser)
c.4707A>T (p.Arg1569Ser)
c.2457A>T (p.Arg819Ser)
c.3420A>T (p.Arg1140Ser)
1g.197091024T>CCA422672487ASPMn.2749A>G
c.9462A>G (p.Arg3154=)
c.9684A>G (p.Arg3228=)
c.9438A>G (p.Arg3146=)
c.4707A>G (p.Arg1569=)
c.2457A>G (p.Arg819=)
c.3420A>G (p.Arg1140=)
1g.197091024T>GCA344003689ASPMn.2749A>C
c.9462A>C (p.Arg3154Ser)
c.9684A>C (p.Arg3228Ser)
c.9438A>C (p.Arg3146Ser)
c.4707A>C (p.Arg1569Ser)
c.2457A>C (p.Arg819Ser)
c.3420A>C (p.Arg1140Ser)
 gnomAD v4
1g.197091025C>ACA344003693ASPMn.2748G>T
c.9461G>T (p.Arg3154Ile)
c.9683G>T (p.Arg3228Ile)
c.9437G>T (p.Arg3146Ile)
c.4706G>T (p.Arg1569Ile)
c.2456G>T (p.Arg819Ile)
c.3419G>T (p.Arg1140Ile)
 COSMIC
1g.197091025C=CA1217925888ASPMn.2748G=
c.9461G= (p.Arg3154=)
c.9683G= (p.Arg3228=)
c.9437G= (p.Arg3146=)
c.4706G= (p.Arg1569=)
c.2456G= (p.Arg819=)
c.3419G= (p.Arg1140=)
1g.197091025C>GCA344003694ASPMn.2748G>C
c.9461G>C (p.Arg3154Thr)
c.9683G>C (p.Arg3228Thr)
c.9437G>C (p.Arg3146Thr)
c.4706G>C (p.Arg1569Thr)
c.2456G>C (p.Arg819Thr)
c.3419G>C (p.Arg1140Thr)
1g.197091025C>TCA344003695ASPMn.2748G>A
c.9461G>A (p.Arg3154Lys)
c.9683G>A (p.Arg3228Lys)
c.9437G>A (p.Arg3146Lys)
c.4706G>A (p.Arg1569Lys)
c.2456G>A (p.Arg819Lys)
c.3419G>A (p.Arg1140Lys)
 dbSNP
1g.197091026T>ACA344003698ASPMn.2747A>T
c.9460A>T (p.Arg3154Ter)
c.9682A>T (p.Arg3228Ter)
c.9436A>T (p.Arg3146Ter)
c.4705A>T (p.Arg1569Ter)
c.2455A>T (p.Arg819Ter)
c.3418A>T (p.Arg1140Ter)
1g.197091026T>CCA344003701ASPMn.2747A>G
c.9460A>G (p.Arg3154Gly)
c.9682A>G (p.Arg3228Gly)
c.9436A>G (p.Arg3146Gly)
c.4705A>G (p.Arg1569Gly)
c.2455A>G (p.Arg819Gly)
c.3418A>G (p.Arg1140Gly)
 dbSNP gnomAD v4
1g.197091026T>GCA422672488ASPMn.2747A>C
c.9460A>C (p.Arg3154=)
c.9682A>C (p.Arg3228=)
c.9436A>C (p.Arg3146=)
c.4705A>C (p.Arg1569=)
c.2455A>C (p.Arg819=)
c.3418A>C (p.Arg1140=)
1g.197091026T=CA1217925890ASPMn.2747A=
c.9460A= (p.Arg3154=)
c.9682A= (p.Arg3228=)
c.9436A= (p.Arg3146=)
c.4705A= (p.Arg1569=)
c.2455A= (p.Arg819=)
c.3418A= (p.Arg1140=)
1g.197091027T>ACA422672489ASPMn.2746A>T
c.9459A>T (p.Ala3153=)
c.9681A>T (p.Ala3227=)
c.9435A>T (p.Ala3145=)
c.4704A>T (p.Ala1568=)
c.2454A>T (p.Ala818=)
c.3417A>T (p.Ala1139=)
1g.197091027T>CCA422672491ASPMn.2746A>G
c.9459A>G (p.Ala3153=)
c.9681A>G (p.Ala3227=)
c.9435A>G (p.Ala3145=)
c.4704A>G (p.Ala1568=)
c.2454A>G (p.Ala818=)
c.3417A>G (p.Ala1139=)
1g.197091027T>GCA422672490ASPMn.2746A>C
c.9459A>C (p.Ala3153=)
c.9681A>C (p.Ala3227=)
c.9435A>C (p.Ala3145=)
c.4704A>C (p.Ala1568=)
c.2454A>C (p.Ala818=)
c.3417A>C (p.Ala1139=)
1g.197091028G>ACA344003704ASPMn.2745C>T
c.9458C>T (p.Ala3153Val)
c.9680C>T (p.Ala3227Val)
c.9434C>T (p.Ala3145Val)
c.4703C>T (p.Ala1568Val)
c.2453C>T (p.Ala818Val)
c.3416C>T (p.Ala1139Val)
1g.197091028G>CCA344003705ASPMn.2745C>G
c.9458C>G (p.Ala3153Gly)
c.9680C>G (p.Ala3227Gly)
c.9434C>G (p.Ala3145Gly)
c.4703C>G (p.Ala1568Gly)
c.2453C>G (p.Ala818Gly)
c.3416C>G (p.Ala1139Gly)
1g.197091028G>TCA344003706ASPMn.2745C>A
c.9458C>A (p.Ala3153Glu)
c.9680C>A (p.Ala3227Glu)
c.9434C>A (p.Ala3145Glu)
c.4703C>A (p.Ala1568Glu)
c.2453C>A (p.Ala818Glu)
c.3416C>A (p.Ala1139Glu)
1g.197091029C>ACA344003707ASPMn.2744G>T
c.9457G>T (p.Ala3153Ser)
c.9679G>T (p.Ala3227Ser)
c.9433G>T (p.Ala3145Ser)
c.4702G>T (p.Ala1568Ser)
c.2452G>T (p.Ala818Ser)
c.3415G>T (p.Ala1139Ser)
1g.197091029C>GCA344003708ASPMn.2744G>C
c.9457G>C (p.Ala3153Pro)
c.9679G>C (p.Ala3227Pro)
c.9433G>C (p.Ala3145Pro)
c.4702G>C (p.Ala1568Pro)
c.2452G>C (p.Ala818Pro)
c.3415G>C (p.Ala1139Pro)
1g.197091029C>TCA344003709ASPMn.2744G>A
c.9457G>A (p.Ala3153Thr)
c.9679G>A (p.Ala3227Thr)
c.9433G>A (p.Ala3145Thr)
c.4702G>A (p.Ala1568Thr)
c.2452G>A (p.Ala818Thr)
c.3415G>A (p.Ala1139Thr)
 gnomAD v4
1g.197091030T>ACA422672492ASPMn.2743A>T
c.9456A>T (p.Arg3152=)
c.9678A>T (p.Arg3226=)
c.9432A>T (p.Arg3144=)
c.4701A>T (p.Arg1567=)
c.2451A>T (p.Arg817=)
c.3414A>T (p.Arg1138=)
1g.197091030T>CCA422672493ASPMn.2743A>G
c.9456A>G (p.Arg3152=)
c.9678A>G (p.Arg3226=)
c.9432A>G (p.Arg3144=)
c.4701A>G (p.Arg1567=)
c.2451A>G (p.Arg817=)
c.3414A>G (p.Arg1138=)
1g.197091030T>GCA422672494ASPMn.2743A>C
c.9456A>C (p.Arg3152=)
c.9678A>C (p.Arg3226=)
c.9432A>C (p.Arg3144=)
c.4701A>C (p.Arg1567=)
c.2451A>C (p.Arg817=)
c.3414A>C (p.Arg1138=)
1g.197091031C>ACA344003710ASPMn.2742G>T
c.9455G>T (p.Arg3152Leu)
c.9677G>T (p.Arg3226Leu)
c.9431G>T (p.Arg3144Leu)
c.4700G>T (p.Arg1567Leu)
c.2450G>T (p.Arg817Leu)
c.3413G>T (p.Arg1138Leu)
 gnomAD v4
1g.197091031C=CA1147157246ASPMn.2742G=
c.9455G= (p.Arg3152=)
c.9677G= (p.Arg3226=)
c.9431G= (p.Arg3144=)
c.4700G= (p.Arg1567=)
c.2450G= (p.Arg817=)
c.3413G= (p.Arg1138=)
1g.197091031C>GCA344003711ASPMn.2742G>C
c.9455G>C (p.Arg3152Pro)
c.9677G>C (p.Arg3226Pro)
c.9431G>C (p.Arg3144Pro)
c.4700G>C (p.Arg1567Pro)
c.2450G>C (p.Arg817Pro)
c.3413G>C (p.Arg1138Pro)
 gnomAD v4
1g.197091031C>TCA1308941ASPMn.2742G>A
c.9455G>A (p.Arg3152Gln)
c.9677G>A (p.Arg3226Gln)
c.9431G>A (p.Arg3144Gln)
c.4700G>A (p.Arg1567Gln)
c.2450G>A (p.Arg817Gln)
c.3413G>A (p.Arg1138Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197091032G>ACA271149ASPMn.2741C>T
c.9454C>T (p.Arg3152Ter)
c.9676C>T (p.Arg3226Ter)
c.9430C>T (p.Arg3144Ter)
c.4699C>T (p.Arg1567Ter)
c.2449C>T (p.Arg817Ter)
c.3412C>T (p.Arg1138Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197091032G>CCA344003712ASPMn.2741C>G
c.9454C>G (p.Arg3152Gly)
c.9676C>G (p.Arg3226Gly)
c.9430C>G (p.Arg3144Gly)
c.4699C>G (p.Arg1567Gly)
c.2449C>G (p.Arg817Gly)
c.3412C>G (p.Arg1138Gly)
1g.197091032G=CA1148224809ASPMn.2741C=
c.9454C= (p.Arg3152=)
c.9676C= (p.Arg3226=)
c.9430C= (p.Arg3144=)
c.4699C= (p.Arg1567=)
c.2449C= (p.Arg817=)
c.3412C= (p.Arg1138=)
1g.197091032G>TCA422672495ASPMn.2741C>A
c.9454C>A (p.Arg3152=)
c.9676C>A (p.Arg3226=)
c.9430C>A (p.Arg3144=)
c.4699C>A (p.Arg1567=)
c.2449C>A (p.Arg817=)
c.3412C>A (p.Arg1138=)
1g.197091033A>CCA344003713ASPMn.2740T>G
c.9453T>G (p.Phe3151Leu)
c.9675T>G (p.Phe3225Leu)
c.9429T>G (p.Phe3143Leu)
c.4698T>G (p.Phe1566Leu)
c.2448T>G (p.Phe816Leu)
c.3411T>G (p.Phe1137Leu)
1g.197091033A>GCA422672496ASPMn.2740T>C
c.9453T>C (p.Phe3151=)
c.9675T>C (p.Phe3225=)
c.9429T>C (p.Phe3143=)
c.4698T>C (p.Phe1566=)
c.2448T>C (p.Phe816=)
c.3411T>C (p.Phe1137=)
1g.197091033A>TCA344003714ASPMn.2740T>A
c.9453T>A (p.Phe3151Leu)
c.9675T>A (p.Phe3225Leu)
c.9429T>A (p.Phe3143Leu)
c.4698T>A (p.Phe1566Leu)
c.2448T>A (p.Phe816Leu)
c.3411T>A (p.Phe1137Leu)
1g.197091034A>CCA344003716ASPMn.2739T>G
c.9452T>G (p.Phe3151Cys)
c.9674T>G (p.Phe3225Cys)
c.9428T>G (p.Phe3143Cys)
c.4697T>G (p.Phe1566Cys)
c.2447T>G (p.Phe816Cys)
c.3410T>G (p.Phe1137Cys)
1g.197091034A>GCA344003717ASPMn.2739T>C
c.9452T>C (p.Phe3151Ser)
c.9674T>C (p.Phe3225Ser)
c.9428T>C (p.Phe3143Ser)
c.4697T>C (p.Phe1566Ser)
c.2447T>C (p.Phe816Ser)
c.3410T>C (p.Phe1137Ser)
1g.197091034A>TCA344003718ASPMn.2739T>A
c.9452T>A (p.Phe3151Tyr)
c.9674T>A (p.Phe3225Tyr)
c.9428T>A (p.Phe3143Tyr)
c.4697T>A (p.Phe1566Tyr)
c.2447T>A (p.Phe816Tyr)
c.3410T>A (p.Phe1137Tyr)
1g.197091035A>CCA344003720ASPMn.2738T>G
c.9451T>G (p.Phe3151Val)
c.9673T>G (p.Phe3225Val)
c.9427T>G (p.Phe3143Val)
c.4696T>G (p.Phe1566Val)
c.2446T>G (p.Phe816Val)
c.3409T>G (p.Phe1137Val)
1g.197091035A>GCA344003722ASPMn.2738T>C
c.9451T>C (p.Phe3151Leu)
c.9673T>C (p.Phe3225Leu)
c.9427T>C (p.Phe3143Leu)
c.4696T>C (p.Phe1566Leu)
c.2446T>C (p.Phe816Leu)
c.3409T>C (p.Phe1137Leu)
1g.197091035A>TCA344003724ASPMn.2738T>A
c.9451T>A (p.Phe3151Ile)
c.9673T>A (p.Phe3225Ile)
c.9427T>A (p.Phe3143Ile)
c.4696T>A (p.Phe1566Ile)
c.2446T>A (p.Phe816Ile)
c.3409T>A (p.Phe1137Ile)
1g.197091036C>ACA344003727ASPMn.2737G>T
c.9450G>T (p.Trp3150Cys)
c.9672G>T (p.Trp3224Cys)
c.9426G>T (p.Trp3142Cys)
c.4695G>T (p.Trp1565Cys)
c.2445G>T (p.Trp815Cys)
c.3408G>T (p.Trp1136Cys)
1g.197091036C>GCA344003726ASPMn.2737G>C
c.9450G>C (p.Trp3150Cys)
c.9672G>C (p.Trp3224Cys)
c.9426G>C (p.Trp3142Cys)
c.4695G>C (p.Trp1565Cys)
c.2445G>C (p.Trp815Cys)
c.3408G>C (p.Trp1136Cys)
1g.197091036C>TCA344003725ASPMn.2737G>A
c.9450G>A (p.Trp3150Ter)
c.9672G>A (p.Trp3224Ter)
c.9426G>A (p.Trp3142Ter)
c.4695G>A (p.Trp1565Ter)
c.2445G>A (p.Trp815Ter)
c.3408G>A (p.Trp1136Ter)
 ClinVar dbSNP
1g.197091037C>ACA344003729ASPMn.2736G>T
c.9449G>T (p.Trp3150Leu)
c.9671G>T (p.Trp3224Leu)
c.9425G>T (p.Trp3142Leu)
c.4694G>T (p.Trp1565Leu)
c.2444G>T (p.Trp815Leu)
c.3407G>T (p.Trp1136Leu)
 gnomAD v4 COSMIC
1g.197091037C>GCA344003731ASPMn.2736G>C
c.9449G>C (p.Trp3150Ser)
c.9671G>C (p.Trp3224Ser)
c.9425G>C (p.Trp3142Ser)
c.4694G>C (p.Trp1565Ser)
c.2444G>C (p.Trp815Ser)
c.3407G>C (p.Trp1136Ser)
1g.197091037C>TCA344003733ASPMn.2736G>A
c.9449G>A (p.Trp3150Ter)
c.9671G>A (p.Trp3224Ter)
c.9425G>A (p.Trp3142Ter)
c.4694G>A (p.Trp1565Ter)
c.2444G>A (p.Trp815Ter)
c.3407G>A (p.Trp1136Ter)
1g.197091038A=CA1217925898ASPMn.2735T=
c.9448T= (p.Trp3150=)
c.9670T= (p.Trp3224=)
c.9424T= (p.Trp3142=)
c.4693T= (p.Trp1565=)
c.2443T= (p.Trp815=)
c.3406T= (p.Trp1136=)
1g.197091038A>CCA1308942ASPMn.2735T>G
c.9448T>G (p.Trp3150Gly)
c.9670T>G (p.Trp3224Gly)
c.9424T>G (p.Trp3142Gly)
c.4693T>G (p.Trp1565Gly)
c.2443T>G (p.Trp815Gly)
c.3406T>G (p.Trp1136Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197091038A>GCA344003737ASPMn.2735T>C
c.9448T>C (p.Trp3150Arg)
c.9670T>C (p.Trp3224Arg)
c.9424T>C (p.Trp3142Arg)
c.4693T>C (p.Trp1565Arg)
c.2443T>C (p.Trp815Arg)
c.3406T>C (p.Trp1136Arg)
 COSMIC
1g.197091038A>TCA344003739ASPMn.2735T>A
c.9448T>A (p.Trp3150Arg)
c.9670T>A (p.Trp3224Arg)
c.9424T>A (p.Trp3142Arg)
c.4693T>A (p.Trp1565Arg)
c.2443T>A (p.Trp815Arg)
c.3406T>A (p.Trp1136Arg)
1g.197091038_197091040delinsATCCA1217925899ASPMn.2733_2735delinsGAT
c.9446_9448delinsGAT (p.Arg3149=)
c.9668_9670delinsGAT (p.Arg3223=)
c.9422_9424delinsGAT (p.Arg3141=)
c.4691_4693delinsGAT (p.Arg1564=)
c.2441_2443delinsGAT (p.Arg814=)
c.3404_3406delinsGAT (p.Arg1135=)
1g.197091039T>ACA344003741ASPMn.2734A>T
c.9447A>T (p.Arg3149Ser)
c.9669A>T (p.Arg3223Ser)
c.9423A>T (p.Arg3141Ser)
c.4692A>T (p.Arg1564Ser)
c.2442A>T (p.Arg814Ser)
c.3405A>T (p.Arg1135Ser)
1g.197091039T>CCA422672497ASPMn.2734A>G
c.9447A>G (p.Arg3149=)
c.9669A>G (p.Arg3223=)
c.9423A>G (p.Arg3141=)
c.4692A>G (p.Arg1564=)
c.2442A>G (p.Arg814=)
c.3405A>G (p.Arg1135=)
1g.197091039T>GCA344003746ASPMn.2734A>C
c.9447A>C (p.Arg3149Ser)
c.9669A>C (p.Arg3223Ser)
c.9423A>C (p.Arg3141Ser)
c.4692A>C (p.Arg1564Ser)
c.2442A>C (p.Arg814Ser)
c.3405A>C (p.Arg1135Ser)
1g.197091042_197091043delCA729743266ASPMn.2733_2734del
c.9446_9447del
c.9668_9669del
c.9422_9423del
c.4691_4692del
c.2441_2442del
c.3404_3405del
 dbSNP gnomAD v3 gnomAD v4
1g.197091040C>ACA344003747ASPMn.2733G>T
c.9446G>T (p.Arg3149Ile)
c.9668G>T (p.Arg3223Ile)
c.9422G>T (p.Arg3141Ile)
c.4691G>T (p.Arg1564Ile)
c.2441G>T (p.Arg814Ile)
c.3404G>T (p.Arg1135Ile)
 ClinVar dbSNP gnomAD v4
1g.197091040C=CA1217925905ASPMn.2733G=
c.9446G= (p.Arg3149=)
c.9668G= (p.Arg3223=)
c.9422G= (p.Arg3141=)
c.4691G= (p.Arg1564=)
c.2441G= (p.Arg814=)
c.3404G= (p.Arg1135=)
1g.197091040C>GCA344003748ASPMn.2733G>C
c.9446G>C (p.Arg3149Thr)
c.9668G>C (p.Arg3223Thr)
c.9422G>C (p.Arg3141Thr)
c.4691G>C (p.Arg1564Thr)
c.2441G>C (p.Arg814Thr)
c.3404G>C (p.Arg1135Thr)
1g.197091040C>TCA344003749ASPMn.2733G>A
c.9446G>A (p.Arg3149Lys)
c.9668G>A (p.Arg3223Lys)
c.9422G>A (p.Arg3141Lys)
c.4691G>A (p.Arg1564Lys)
c.2441G>A (p.Arg814Lys)
c.3404G>A (p.Arg1135Lys)
1g.197091041T>ACA344003750ASPMn.2732A>T
c.9445A>T (p.Arg3149Ter)
c.9667A>T (p.Arg3223Ter)
c.9421A>T (p.Arg3141Ter)
c.4690A>T (p.Arg1564Ter)
c.2440A>T (p.Arg814Ter)
c.3403A>T (p.Arg1135Ter)
1g.197091041T>CCA344003751ASPMn.2732A>G
c.9445A>G (p.Arg3149Gly)
c.9667A>G (p.Arg3223Gly)
c.9421A>G (p.Arg3141Gly)
c.4690A>G (p.Arg1564Gly)
c.2440A>G (p.Arg814Gly)
c.3403A>G (p.Arg1135Gly)
1g.197091041T>GCA422672498ASPMn.2732A>C
c.9445A>C (p.Arg3149=)
c.9667A>C (p.Arg3223=)
c.9421A>C (p.Arg3141=)
c.4690A>C (p.Arg1564=)
c.2440A>C (p.Arg814=)
c.3403A>C (p.Arg1135=)
1g.197091042C>ACA344003755ASPMn.2732-1G>T
c.9445-1G>T (n.9445-1G>T)
c.9667-1G>T (n.9667-1G>T)
c.9421-1G>T (n.9421-1G>T)
c.4690-1G>T (n.4690-1G>T)
c.2440-1G>T (n.2440-1G>T)
c.3403-1G>T (n.3403-1G>T)
 gnomAD v4
1g.197091042C>GCA344003759ASPMn.2732-1G>C
c.9445-1G>C (n.9445-1G>C)
c.9667-1G>C (n.9667-1G>C)
c.9421-1G>C (n.9421-1G>C)
c.4690-1G>C (n.4690-1G>C)
c.2440-1G>C (n.2440-1G>C)
c.3403-1G>C (n.3403-1G>C)
1g.197091042C>TCA344003757ASPMn.2732-1G>A
c.9445-1G>A (n.9445-1G>A)
c.9667-1G>A (n.9667-1G>A)
c.9421-1G>A (n.9421-1G>A)
c.4690-1G>A (n.4690-1G>A)
c.2440-1G>A (n.2440-1G>A)
c.3403-1G>A (n.3403-1G>A)
1g.197091043T>ACA344003763ASPMn.2732-2A>T
c.9445-2A>T (n.9445-2A>T)
c.9667-2A>T (n.9667-2A>T)
c.9421-2A>T (n.9421-2A>T)
c.4690-2A>T (n.4690-2A>T)
c.2440-2A>T (n.2440-2A>T)
c.3403-2A>T (n.3403-2A>T)
1g.197091043T>CCA344003765ASPMn.2732-2A>G
c.9445-2A>G (n.9445-2A>G)
c.9667-2A>G (n.9667-2A>G)
c.9421-2A>G (n.9421-2A>G)
c.4690-2A>G (n.4690-2A>G)
c.2440-2A>G (n.2440-2A>G)
c.3403-2A>G (n.3403-2A>G)
1g.197091043T>GCA344003767ASPMn.2732-2A>C
c.9445-2A>C (n.9445-2A>C)
c.9667-2A>C (n.9667-2A>C)
c.9421-2A>C (n.9421-2A>C)
c.4690-2A>C (n.4690-2A>C)
c.2440-2A>C (n.2440-2A>C)
c.3403-2A>C (n.3403-2A>C)
1g.197091044G>CCA2649660860ASPMn.2732-3C>G
c.9445-3C>G (n.9445-3C>G)
c.9667-3C>G (n.9667-3C>G)
c.9421-3C>G (n.9421-3C>G)
c.4690-3C>G (n.4690-3C>G)
c.2440-3C>G (n.2440-3C>G)
c.3403-3C>G (n.3403-3C>G)
 gnomAD v4
1g.197091045T>ACA2649660861ASPMn.2732-4A>T
c.9445-4A>T (n.9445-4A>T)
c.9667-4A>T (n.9667-4A>T)
c.9421-4A>T (n.9421-4A>T)
c.4690-4A>T (n.4690-4A>T)
c.2440-4A>T (n.2440-4A>T)
c.3403-4A>T (n.3403-4A>T)
 gnomAD v4
1g.197091045T>CCA1217925907ASPMn.2732-4A>G
c.9445-4A>G (n.9445-4A>G)
c.9667-4A>G (n.9667-4A>G)
c.9421-4A>G (n.9421-4A>G)
c.4690-4A>G (n.4690-4A>G)
c.2440-4A>G (n.2440-4A>G)
c.3403-4A>G (n.3403-4A>G)
 dbSNP gnomAD v4
1g.197091045T=CA1217925906ASPMn.2732-4A=
c.9445-4A= (n.9445-4A=)
c.9667-4A= (n.9667-4A=)
c.9421-4A= (n.9421-4A=)
c.4690-4A= (n.4690-4A=)
c.2440-4A= (n.2440-4A=)
c.3403-4A= (n.3403-4A=)
1g.197091048A=CA1217925908ASPMn.2732-7T=
c.9445-7T= (n.9445-7T=)
c.9667-7T= (n.9667-7T=)
c.9421-7T= (n.9421-7T=)
c.4690-7T= (n.4690-7T=)
c.2440-7T= (n.2440-7T=)
c.3403-7T= (n.3403-7T=)
1g.197091048A>TCA35862283ASPMn.2732-7T>A
c.9445-7T>A (n.9445-7T>A)
c.9667-7T>A (n.9667-7T>A)
c.9421-7T>A (n.9421-7T>A)
c.4690-7T>A (n.4690-7T>A)
c.2440-7T>A (n.2440-7T>A)
c.3403-7T>A (n.3403-7T>A)
 dbSNP gnomAD v4
1g.197091049A=CA1217925909ASPMn.2732-8T=
c.9445-8T= (n.9445-8T=)
c.9667-8T= (n.9667-8T=)
c.9421-8T= (n.9421-8T=)
c.4690-8T= (n.4690-8T=)
c.2440-8T= (n.2440-8T=)
c.3403-8T= (n.3403-8T=)
1g.197091049A>TCA35862289ASPMn.2732-8T>A
c.9445-8T>A (n.9445-8T>A)
c.9667-8T>A (n.9667-8T>A)
c.9421-8T>A (n.9421-8T>A)
c.4690-8T>A (n.4690-8T>A)
c.2440-8T>A (n.2440-8T>A)
c.3403-8T>A (n.3403-8T>A)
 dbSNP
1g.197091050A>GCA2573974214ASPMn.2732-9T>C
c.9445-9T>C (n.9445-9T>C)
c.9667-9T>C (n.9667-9T>C)
c.9421-9T>C (n.9421-9T>C)
c.4690-9T>C (n.4690-9T>C)
c.2440-9T>C (n.2440-9T>C)
c.3403-9T>C (n.3403-9T>C)
1g.197091052C>TCA2506809950ASPMn.2732-11G>A
c.9445-11G>A (n.9445-11G>A)
c.9667-11G>A (n.9667-11G>A)
c.9421-11G>A (n.9421-11G>A)
c.4690-11G>A (n.4690-11G>A)
c.2440-11G>A (n.2440-11G>A)
c.3403-11G>A (n.3403-11G>A)
1g.197091052_197091054delinsCATCA1217925910ASPMn.2732-13_2732-11delinsATG
c.9445-13_9445-11delinsATG (n.9445-13_9445-11delinsATG)
c.9667-13_9667-11delinsATG (n.9667-13_9667-11delinsATG)
c.9421-13_9421-11delinsATG (n.9421-13_9421-11delinsATG)
c.4690-13_4690-11delinsATG (n.4690-13_4690-11delinsATG)
c.2440-13_2440-11delinsATG (n.2440-13_2440-11delinsATG)
c.3403-13_3403-11delinsATG (n.3403-13_3403-11delinsATG)
1g.197091054_197091055delCA528535116ASPMn.2732-13_2732-12del
c.9445-13_9445-12del (n.9445-13_9445-12del)
c.9667-13_9667-12del (n.9667-13_9667-12del)
c.9421-13_9421-12del (n.9421-13_9421-12del)
c.4690-13_4690-12del (n.4690-13_4690-12del)
c.2440-13_2440-12del (n.2440-13_2440-12del)
c.3403-13_3403-12del (n.3403-13_3403-12del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197091054T>CCA528535117ASPMn.2732-13A>G
c.9445-13A>G (n.9445-13A>G)
c.9667-13A>G (n.9667-13A>G)
c.9421-13A>G (n.9421-13A>G)
c.4690-13A>G (n.4690-13A>G)
c.2440-13A>G (n.2440-13A>G)
c.3403-13A>G (n.3403-13A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.197091054T>GCA2573974269ASPMn.2732-13A>C
c.9445-13A>C (n.9445-13A>C)
c.9667-13A>C (n.9667-13A>C)
c.9421-13A>C (n.9421-13A>C)
c.4690-13A>C (n.4690-13A>C)
c.2440-13A>C (n.2440-13A>C)
c.3403-13A>C (n.3403-13A>C)
 gnomAD v4
1g.197091054T=CA1217925911ASPMn.2732-13A=
c.9445-13A= (n.9445-13A=)
c.9667-13A= (n.9667-13A=)
c.9421-13A= (n.9421-13A=)
c.4690-13A= (n.4690-13A=)
c.2440-13A= (n.2440-13A=)
c.3403-13A= (n.3403-13A=)
1g.197091056G>CCA2649660862ASPMn.2732-15C>G
c.9445-15C>G (n.9445-15C>G)
c.9667-15C>G (n.9667-15C>G)
c.9421-15C>G (n.9421-15C>G)
c.4690-15C>G (n.4690-15C>G)
c.2440-15C>G (n.2440-15C>G)
c.3403-15C>G (n.3403-15C>G)
 gnomAD v4
1g.197091056G>TCA2571801836ASPMn.2732-15C>A
c.9445-15C>A (n.9445-15C>A)
c.9667-15C>A (n.9667-15C>A)
c.9421-15C>A (n.9421-15C>A)
c.4690-15C>A (n.4690-15C>A)
c.2440-15C>A (n.2440-15C>A)
c.3403-15C>A (n.3403-15C>A)
 gnomAD v4
1g.197091057A>CCA2649660863ASPMn.2732-16T>G
c.9445-16T>G (n.9445-16T>G)
c.9667-16T>G (n.9667-16T>G)
c.9421-16T>G (n.9421-16T>G)
c.4690-16T>G (n.4690-16T>G)
c.2440-16T>G (n.2440-16T>G)
c.3403-16T>G (n.3403-16T>G)
 gnomAD v4

Number of alleles fetched