Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.15180184C>ACA404513634NOTCH3c.3215G>T (p.Cys1072Phe)
c.3056G>T (p.Cys1019Phe)
c.3059G>T (p.Cys1020Phe)
19g.15180184C=CA2324744276NOTCH3c.3215G= (p.Cys1072=)
c.3056G= (p.Cys1019=)
c.3059G= (p.Cys1020=)
19g.15180184C>GCA404513637NOTCH3c.3215G>C (p.Cys1072Ser)
c.3056G>C (p.Cys1019Ser)
c.3059G>C (p.Cys1020Ser)
19g.15180184C>TCA404513642NOTCH3c.3215G>A (p.Cys1072Tyr)
c.3056G>A (p.Cys1019Tyr)
c.3059G>A (p.Cys1020Tyr)
 dbSNP gnomAD v3 gnomAD v4
19g.15180185A>CCA404513654NOTCH3c.3214T>G (p.Cys1072Gly)
c.3055T>G (p.Cys1019Gly)
c.3058T>G (p.Cys1020Gly)
19g.15180185A>GCA404513652NOTCH3c.3214T>C (p.Cys1072Arg)
c.3055T>C (p.Cys1019Arg)
c.3058T>C (p.Cys1020Arg)
19g.15180185A>TCA404513645NOTCH3c.3214T>A (p.Cys1072Ser)
c.3055T>A (p.Cys1019Ser)
c.3058T>A (p.Cys1020Ser)
19g.15180186C>ACA505824353NOTCH3c.3213G>T (p.Val1071=)
c.3054G>T (p.Val1018=)
c.3057G>T (p.Val1019=)
19g.15180186C>GCA505824355NOTCH3c.3213G>C (p.Val1071=)
c.3054G>C (p.Val1018=)
c.3057G>C (p.Val1019=)
19g.15180186C>TCA505824354NOTCH3c.3213G>A (p.Val1071=)
c.3054G>A (p.Val1018=)
c.3057G>A (p.Val1019=)
19g.15180187A=CA2324744277NOTCH3c.3212T= (p.Val1071=)
c.3053T= (p.Val1018=)
c.3056T= (p.Val1019=)
19g.15180187A>CCA9263154NOTCH3c.3212T>G (p.Val1071Gly)
c.3053T>G (p.Val1018Gly)
c.3056T>G (p.Val1019Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180187A>GCA404513663NOTCH3c.3212T>C (p.Val1071Ala)
c.3053T>C (p.Val1018Ala)
c.3056T>C (p.Val1019Ala)
19g.15180187A>TCA404513664NOTCH3c.3212T>A (p.Val1071Glu)
c.3053T>A (p.Val1018Glu)
c.3056T>A (p.Val1019Glu)
19g.15180188C>ACA404513667NOTCH3c.3211G>T (p.Val1071Leu)
c.3052G>T (p.Val1018Leu)
c.3055G>T (p.Val1019Leu)
19g.15180188C=CA2324744278NOTCH3c.3211G= (p.Val1071=)
c.3052G= (p.Val1018=)
c.3055G= (p.Val1019=)
19g.15180188C>GCA9263155NOTCH3c.3211G>C (p.Val1071Leu)
c.3052G>C (p.Val1018Leu)
c.3055G>C (p.Val1019Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180188C>TCA305770013NOTCH3c.3211G>A (p.Val1071Met)
c.3052G>A (p.Val1018Met)
c.3055G>A (p.Val1019Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15180189G>ACA9263156NOTCH3c.3210C>T (p.Cys1070=)
c.3051C>T (p.Cys1017=)
c.3054C>T (p.Cys1018=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15180189G>CCA404513679NOTCH3c.3210C>G (p.Cys1070Trp)
c.3051C>G (p.Cys1017Trp)
c.3054C>G (p.Cys1018Trp)
19g.15180189G=CA2324744279NOTCH3c.3210C= (p.Cys1070=)
c.3051C= (p.Cys1017=)
c.3054C= (p.Cys1018=)
19g.15180189G>TCA404513677NOTCH3c.3210C>A (p.Cys1070Ter)
c.3051C>A (p.Cys1017Ter)
c.3054C>A (p.Cys1018Ter)
19g.15180190C>ACA404513680NOTCH3c.3209G>T (p.Cys1070Phe)
c.3050G>T (p.Cys1017Phe)
c.3053G>T (p.Cys1018Phe)
19g.15180190C>GCA404513681NOTCH3c.3209G>C (p.Cys1070Ser)
c.3050G>C (p.Cys1017Ser)
c.3053G>C (p.Cys1018Ser)
19g.15180190C>TCA404513683NOTCH3c.3209G>A (p.Cys1070Tyr)
c.3050G>A (p.Cys1017Tyr)
c.3053G>A (p.Cys1018Tyr)
19g.15180191A>CCA404513686NOTCH3c.3208T>G (p.Cys1070Gly)
c.3049T>G (p.Cys1017Gly)
c.3052T>G (p.Cys1018Gly)
19g.15180191A>GCA404513689NOTCH3c.3208T>C (p.Cys1070Arg)
c.3049T>C (p.Cys1017Arg)
c.3052T>C (p.Cys1018Arg)
19g.15180191A>TCA404513691NOTCH3c.3208T>A (p.Cys1070Ser)
c.3049T>A (p.Cys1017Ser)
c.3052T>A (p.Cys1018Ser)
19g.15180194_15180196delCA2583062882NOTCH3c.3206_3208del (p.Tyr1069del)
c.3047_3049del (p.Tyr1016del)
c.3050_3052del (p.Tyr1017del)
 gnomAD v4
19g.15180192G>ACA9263157NOTCH3c.3207C>T (p.Tyr1069=)
c.3048C>T (p.Tyr1016=)
c.3051C>T (p.Tyr1017=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180192G>CCA404513694NOTCH3c.3207C>G (p.Tyr1069Ter)
c.3048C>G (p.Tyr1016Ter)
c.3051C>G (p.Tyr1017Ter)
19g.15180192G=CA2324744280NOTCH3c.3207C= (p.Tyr1069=)
c.3048C= (p.Tyr1016=)
c.3051C= (p.Tyr1017=)
19g.15180192G>TCA404513693NOTCH3c.3207C>A (p.Tyr1069Ter)
c.3048C>A (p.Tyr1016Ter)
c.3051C>A (p.Tyr1017Ter)
19g.15180193T>ACA404513697NOTCH3c.3206A>T (p.Tyr1069Phe)
c.3047A>T (p.Tyr1016Phe)
c.3050A>T (p.Tyr1017Phe)
19g.15180193T>CCA404513700NOTCH3c.3206A>G (p.Tyr1069Cys)
c.3047A>G (p.Tyr1016Cys)
c.3050A>G (p.Tyr1017Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.15180193T>GCA404513704NOTCH3c.3206A>C (p.Tyr1069Ser)
c.3047A>C (p.Tyr1016Ser)
c.3050A>C (p.Tyr1017Ser)
19g.15180193T=CA2324744281NOTCH3c.3206A= (p.Tyr1069=)
c.3047A= (p.Tyr1016=)
c.3050A= (p.Tyr1017=)
19g.15180194A>CCA404513706NOTCH3c.3205T>G (p.Tyr1069Asp)
c.3046T>G (p.Tyr1016Asp)
c.3049T>G (p.Tyr1017Asp)
19g.15180194A>GCA404513708NOTCH3c.3205T>C (p.Tyr1069His)
c.3046T>C (p.Tyr1016His)
c.3049T>C (p.Tyr1017His)
19g.15180194A>TCA404513710NOTCH3c.3205T>A (p.Tyr1069Asn)
c.3046T>A (p.Tyr1016Asn)
c.3049T>A (p.Tyr1017Asn)
19g.15180195G>ACA505824356NOTCH3c.3204C>T (p.His1068=)
c.3045C>T (p.His1015=)
c.3048C>T (p.His1016=)
 dbSNP gnomAD v2 gnomAD v4
19g.15180195G>CCA404513712NOTCH3c.3204C>G (p.His1068Gln)
c.3045C>G (p.His1015Gln)
c.3048C>G (p.His1016Gln)
19g.15180195G=CA2324744282NOTCH3c.3204C= (p.His1068=)
c.3045C= (p.His1015=)
c.3048C= (p.His1016=)
19g.15180195G>TCA404513714NOTCH3c.3204C>A (p.His1068Gln)
c.3045C>A (p.His1015Gln)
c.3048C>A (p.His1016Gln)
19g.15180196T>ACA404513717NOTCH3c.3203A>T (p.His1068Leu)
c.3044A>T (p.His1015Leu)
c.3047A>T (p.His1016Leu)
19g.15180196T>CCA404513720NOTCH3c.3203A>G (p.His1068Arg)
c.3044A>G (p.His1015Arg)
c.3047A>G (p.His1016Arg)
19g.15180196T>GCA404513722NOTCH3c.3203A>C (p.His1068Pro)
c.3044A>C (p.His1015Pro)
c.3047A>C (p.His1016Pro)
19g.15180197G>ACA305770022NOTCH3c.3202C>T (p.His1068Tyr)
c.3043C>T (p.His1015Tyr)
c.3046C>T (p.His1016Tyr)
 dbSNP gnomAD v3 gnomAD v4
19g.15180197G>CCA404513726NOTCH3c.3202C>G (p.His1068Asp)
c.3043C>G (p.His1015Asp)
c.3046C>G (p.His1016Asp)
19g.15180197G=CA2324744283NOTCH3c.3202C= (p.His1068=)
c.3043C= (p.His1015=)
c.3046C= (p.His1016=)
19g.15180197G>TCA404513724NOTCH3c.3202C>A (p.His1068Asn)
c.3043C>A (p.His1015Asn)
c.3046C>A (p.His1016Asn)
19g.15180198G>ACA505824357NOTCH3c.3201C>T (p.Ser1067=)
c.3042C>T (p.Ser1014=)
c.3045C>T (p.Ser1015=)
19g.15180198G>CCA505824358NOTCH3c.3201C>G (p.Ser1067=)
c.3042C>G (p.Ser1014=)
c.3045C>G (p.Ser1015=)
19g.15180198G>TCA505824359NOTCH3c.3201C>A (p.Ser1067=)
c.3042C>A (p.Ser1014=)
c.3045C>A (p.Ser1015=)
19g.15180199G>ACA404513728NOTCH3c.3200C>T (p.Ser1067Phe)
c.3041C>T (p.Ser1014Phe)
c.3044C>T (p.Ser1015Phe)
 gnomAD v4
19g.15180199G>CCA404513734NOTCH3c.3200C>G (p.Ser1067Cys)
c.3041C>G (p.Ser1014Cys)
c.3044C>G (p.Ser1015Cys)
19g.15180199G>TCA404513731NOTCH3c.3200C>A (p.Ser1067Tyr)
c.3041C>A (p.Ser1014Tyr)
c.3044C>A (p.Ser1015Tyr)
19g.15180200A>CCA404513736NOTCH3c.3199T>G (p.Ser1067Ala)
c.3040T>G (p.Ser1014Ala)
c.3043T>G (p.Ser1015Ala)
19g.15180200A>GCA404513737NOTCH3c.3199T>C (p.Ser1067Pro)
c.3040T>C (p.Ser1014Pro)
c.3043T>C (p.Ser1015Pro)
 gnomAD v4
19g.15180200A>TCA404513739NOTCH3c.3199T>A (p.Ser1067Thr)
c.3040T>A (p.Ser1014Thr)
c.3043T>A (p.Ser1015Thr)
19g.15180201G>ACA505824360NOTCH3c.3198C>T (p.Ser1066=)
c.3039C>T (p.Ser1013=)
c.3042C>T (p.Ser1014=)
19g.15180201G>CCA404513743NOTCH3c.3198C>G (p.Ser1066Arg)
c.3039C>G (p.Ser1013Arg)
c.3042C>G (p.Ser1014Arg)
19g.15180201G>TCA404513744NOTCH3c.3198C>A (p.Ser1066Arg)
c.3039C>A (p.Ser1013Arg)
c.3042C>A (p.Ser1014Arg)
19g.15180202C>ACA404513747NOTCH3c.3197G>T (p.Ser1066Ile)
c.3038G>T (p.Ser1013Ile)
c.3041G>T (p.Ser1014Ile)
19g.15180202C>GCA404513749NOTCH3c.3197G>C (p.Ser1066Thr)
c.3038G>C (p.Ser1013Thr)
c.3041G>C (p.Ser1014Thr)
19g.15180202C>TCA404513750NOTCH3c.3197G>A (p.Ser1066Asn)
c.3038G>A (p.Ser1013Asn)
c.3041G>A (p.Ser1014Asn)
 gnomAD v4
19g.15180203T>ACA404513752NOTCH3c.3196A>T (p.Ser1066Cys)
c.3037A>T (p.Ser1013Cys)
c.3040A>T (p.Ser1014Cys)
19g.15180203T>CCA404513755NOTCH3c.3196A>G (p.Ser1066Gly)
c.3037A>G (p.Ser1013Gly)
c.3040A>G (p.Ser1014Gly)
19g.15180203T>GCA404513758NOTCH3c.3196A>C (p.Ser1066Arg)
c.3037A>C (p.Ser1013Arg)
c.3040A>C (p.Ser1014Arg)
19g.15180204G>ACA505824361NOTCH3c.3195C>T (p.Asp1065=)
c.3036C>T (p.Asp1012=)
c.3039C>T (p.Asp1013=)
 gnomAD v4
19g.15180204G>CCA404513760NOTCH3c.3195C>G (p.Asp1065Glu)
c.3036C>G (p.Asp1012Glu)
c.3039C>G (p.Asp1013Glu)
19g.15180204G>TCA404513762NOTCH3c.3195C>A (p.Asp1065Glu)
c.3036C>A (p.Asp1012Glu)
c.3039C>A (p.Asp1013Glu)
19g.15180205T>ACA404513765NOTCH3c.3194A>T (p.Asp1065Val)
c.3035A>T (p.Asp1012Val)
c.3038A>T (p.Asp1013Val)
19g.15180205T>CCA404513771NOTCH3c.3194A>G (p.Asp1065Gly)
c.3035A>G (p.Asp1012Gly)
c.3038A>G (p.Asp1013Gly)
19g.15180205T>GCA404513767NOTCH3c.3194A>C (p.Asp1065Ala)
c.3035A>C (p.Asp1012Ala)
c.3038A>C (p.Asp1013Ala)
19g.15180206C>ACA404513780NOTCH3c.3193G>T (p.Asp1065Tyr)
c.3034G>T (p.Asp1012Tyr)
c.3037G>T (p.Asp1013Tyr)
19g.15180206C=CA2324744284NOTCH3c.3193G= (p.Asp1065=)
c.3034G= (p.Asp1012=)
c.3037G= (p.Asp1013=)
19g.15180206C>GCA404513783NOTCH3c.3193G>C (p.Asp1065His)
c.3034G>C (p.Asp1012His)
c.3037G>C (p.Asp1013His)
19g.15180206C>TCA305770026NOTCH3c.3193G>A (p.Asp1065Asn)
c.3034G>A (p.Asp1012Asn)
c.3037G>A (p.Asp1013Asn)
 ClinVar dbSNP
19g.15180207T>ACA404513787NOTCH3c.3192A>T (p.Glu1064Asp)
c.3033A>T (p.Glu1011Asp)
c.3036A>T (p.Glu1012Asp)
19g.15180207T>CCA505824363NOTCH3c.3192A>G (p.Glu1064=)
c.3033A>G (p.Glu1011=)
c.3036A>G (p.Glu1012=)
19g.15180207T>GCA404513788NOTCH3c.3192A>C (p.Glu1064Asp)
c.3033A>C (p.Glu1011Asp)
c.3036A>C (p.Glu1012Asp)
19g.15180208T>ACA404513791NOTCH3c.3191A>T (p.Glu1064Val)
c.3032A>T (p.Glu1011Val)
c.3035A>T (p.Glu1012Val)
19g.15180208T>CCA404513794NOTCH3c.3191A>G (p.Glu1064Gly)
c.3032A>G (p.Glu1011Gly)
c.3035A>G (p.Glu1012Gly)
19g.15180208T>GCA404513796NOTCH3c.3191A>C (p.Glu1064Ala)
c.3032A>C (p.Glu1011Ala)
c.3035A>C (p.Glu1012Ala)
19g.15180209C>ACA404513797NOTCH3c.3190G>T (p.Glu1064Ter)
c.3031G>T (p.Glu1011Ter)
c.3034G>T (p.Glu1012Ter)
 COSMIC COSMIC
19g.15180209C>GCA404513798NOTCH3c.3190G>C (p.Glu1064Gln)
c.3031G>C (p.Glu1011Gln)
c.3034G>C (p.Glu1012Gln)
19g.15180209C>TCA404513799NOTCH3c.3190G>A (p.Glu1064Lys)
c.3031G>A (p.Glu1011Lys)
c.3034G>A (p.Glu1012Lys)
19g.15180210A>CCA404513800NOTCH3c.3189T>G (p.Asp1063Glu)
c.3030T>G (p.Asp1010Glu)
c.3033T>G (p.Asp1011Glu)
19g.15180210A>GCA505824365NOTCH3c.3189T>C (p.Asp1063=)
c.3030T>C (p.Asp1010=)
c.3033T>C (p.Asp1011=)
19g.15180210A>TCA404513801NOTCH3c.3189T>A (p.Asp1063Glu)
c.3030T>A (p.Asp1010Glu)
c.3033T>A (p.Asp1011Glu)
19g.15180211T>ACA404513802NOTCH3c.3188A>T (p.Asp1063Val)
c.3029A>T (p.Asp1010Val)
c.3032A>T (p.Asp1011Val)
19g.15180211T>CCA404513803NOTCH3c.3188A>G (p.Asp1063Gly)
c.3029A>G (p.Asp1010Gly)
c.3032A>G (p.Asp1011Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.15180211T>GCA404513804NOTCH3c.3188A>C (p.Asp1063Ala)
c.3029A>C (p.Asp1010Ala)
c.3032A>C (p.Asp1011Ala)
19g.15180211T=CA2324744285NOTCH3c.3188A= (p.Asp1063=)
c.3029A= (p.Asp1010=)
c.3032A= (p.Asp1011=)
19g.15180212C>ACA404513806NOTCH3c.3187G>T (p.Asp1063Tyr)
c.3028G>T (p.Asp1010Tyr)
c.3031G>T (p.Asp1011Tyr)
19g.15180212C=CA2324744286NOTCH3c.3187G= (p.Asp1063=)
c.3028G= (p.Asp1010=)
c.3031G= (p.Asp1011=)
19g.15180212C>GCA9263158NOTCH3c.3187G>C (p.Asp1063His)
c.3028G>C (p.Asp1010His)
c.3031G>C (p.Asp1011His)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180212C>TCA404513809NOTCH3c.3187G>A (p.Asp1063Asn)
c.3028G>A (p.Asp1010Asn)
c.3031G>A (p.Asp1011Asn)
 dbSNP
19g.15180213C>ACA505824367NOTCH3c.3186G>T (p.Val1062=)
c.3027G>T (p.Val1009=)
c.3030G>T (p.Val1010=)
19g.15180213C=CA2324744287NOTCH3c.3186G= (p.Val1062=)
c.3027G= (p.Val1009=)
c.3030G= (p.Val1010=)
19g.15180213C>GCA505824369NOTCH3c.3186G>C (p.Val1062=)
c.3027G>C (p.Val1009=)
c.3030G>C (p.Val1010=)
19g.15180213C>TCA505824368NOTCH3c.3186G>A (p.Val1062=)
c.3027G>A (p.Val1009=)
c.3030G>A (p.Val1010=)
 dbSNP gnomAD v2 gnomAD v4
19g.15180214A>CCA404513816NOTCH3c.3185T>G (p.Val1062Gly)
c.3026T>G (p.Val1009Gly)
c.3029T>G (p.Val1010Gly)
19g.15180214A>GCA404513811NOTCH3c.3185T>C (p.Val1062Ala)
c.3026T>C (p.Val1009Ala)
c.3029T>C (p.Val1010Ala)
19g.15180214A>TCA404513813NOTCH3c.3185T>A (p.Val1062Glu)
c.3026T>A (p.Val1009Glu)
c.3029T>A (p.Val1010Glu)
19g.15180215C>ACA404513818NOTCH3c.3184G>T (p.Val1062Leu)
c.3025G>T (p.Val1009Leu)
c.3028G>T (p.Val1010Leu)
19g.15180215C>GCA404513820NOTCH3c.3184G>C (p.Val1062Leu)
c.3025G>C (p.Val1009Leu)
c.3028G>C (p.Val1010Leu)
19g.15180215C>TCA404513821NOTCH3c.3184G>A (p.Val1062Met)
c.3025G>A (p.Val1009Met)
c.3028G>A (p.Val1010Met)
19g.15180216A>CCA404513824NOTCH3c.3183T>G (p.Cys1061Trp)
c.3024T>G (p.Cys1008Trp)
c.3027T>G (p.Cys1009Trp)
19g.15180216A>GCA505824370NOTCH3c.3183T>C (p.Cys1061=)
c.3024T>C (p.Cys1008=)
c.3027T>C (p.Cys1009=)
19g.15180216A>TCA404513826NOTCH3c.3183T>A (p.Cys1061Ter)
c.3024T>A (p.Cys1008Ter)
c.3027T>A (p.Cys1009Ter)
19g.15180217C>ACA404513828NOTCH3c.3182G>T (p.Cys1061Phe)
c.3023G>T (p.Cys1008Phe)
c.3026G>T (p.Cys1009Phe)
19g.15180217C=CA2324744288NOTCH3c.3182G= (p.Cys1061=)
c.3023G= (p.Cys1008=)
c.3026G= (p.Cys1009=)
19g.15180217C>GCA404513832NOTCH3c.3182G>C (p.Cys1061Ser)
c.3023G>C (p.Cys1008Ser)
c.3026G>C (p.Cys1009Ser)
19g.15180217C>TCA16620807NOTCH3c.3182G>A (p.Cys1061Tyr)
c.3023G>A (p.Cys1008Tyr)
c.3026G>A (p.Cys1009Tyr)
 ClinVar dbSNP gnomAD v4
19g.15180218A=CA2324744289NOTCH3c.3181T= (p.Cys1061=)
c.3022T= (p.Cys1008=)
c.3025T= (p.Cys1009=)
19g.15180218A>CCA404513834NOTCH3c.3181T>G (p.Cys1061Gly)
c.3022T>G (p.Cys1008Gly)
c.3025T>G (p.Cys1009Gly)
19g.15180218A>GCA404513837NOTCH3c.3181T>C (p.Cys1061Arg)
c.3022T>C (p.Cys1008Arg)
c.3025T>C (p.Cys1009Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.15180218A>TCA404513839NOTCH3c.3181T>A (p.Cys1061Ser)
c.3022T>A (p.Cys1008Ser)
c.3025T>A (p.Cys1009Ser)
19g.15180219C>ACA404513843NOTCH3c.3180G>T (p.Gln1060His)
c.3021G>T (p.Gln1007His)
c.3024G>T (p.Gln1008His)
 dbSNP gnomAD v2 gnomAD v4
19g.15180219C=CA2324744290NOTCH3c.3180G= (p.Gln1060=)
c.3021G= (p.Gln1007=)
c.3024G= (p.Gln1008=)
19g.15180219C>GCA404513844NOTCH3c.3180G>C (p.Gln1060His)
c.3021G>C (p.Gln1007His)
c.3024G>C (p.Gln1008His)
19g.15180219C>TCA505824371NOTCH3c.3180G>A (p.Gln1060=)
c.3021G>A (p.Gln1007=)
c.3024G>A (p.Gln1008=)
19g.15180220T>ACA404513847NOTCH3c.3179A>T (p.Gln1060Leu)
c.3020A>T (p.Gln1007Leu)
c.3023A>T (p.Gln1008Leu)
19g.15180220T>CCA404513849NOTCH3c.3179A>G (p.Gln1060Arg)
c.3020A>G (p.Gln1007Arg)
c.3023A>G (p.Gln1008Arg)
19g.15180220T>GCA404513852NOTCH3c.3179A>C (p.Gln1060Pro)
c.3020A>C (p.Gln1007Pro)
c.3023A>C (p.Gln1008Pro)
19g.15180221G>ACA404513855NOTCH3c.3178C>T (p.Gln1060Ter)
c.3019C>T (p.Gln1007Ter)
c.3022C>T (p.Gln1008Ter)
 dbSNP
19g.15180221G>CCA404513858NOTCH3c.3178C>G (p.Gln1060Glu)
c.3019C>G (p.Gln1007Glu)
c.3022C>G (p.Gln1008Glu)
19g.15180221G>TCA404513864NOTCH3c.3178C>A (p.Gln1060Lys)
c.3019C>A (p.Gln1007Lys)
c.3022C>A (p.Gln1008Lys)
19g.15180222C>ACA505824382NOTCH3c.3177G>T (p.Gly1059=)
c.3018G>T (p.Gly1006=)
c.3021G>T (p.Gly1007=)
19g.15180222C=CA2324744291NOTCH3c.3177G= (p.Gly1059=)
c.3018G= (p.Gly1006=)
c.3021G= (p.Gly1007=)
19g.15180222C>GCA505824385NOTCH3c.3177G>C (p.Gly1059=)
c.3018G>C (p.Gly1006=)
c.3021G>C (p.Gly1007=)
19g.15180222C>TCA9263159NOTCH3c.3177G>A (p.Gly1059=)
c.3018G>A (p.Gly1006=)
c.3021G>A (p.Gly1007=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180223C>ACA404513870NOTCH3c.3176G>T (p.Gly1059Val)
c.3017G>T (p.Gly1006Val)
c.3020G>T (p.Gly1007Val)
 dbSNP
19g.15180223C=CA2324744292NOTCH3c.3176G= (p.Gly1059=)
c.3017G= (p.Gly1006=)
c.3020G= (p.Gly1007=)
19g.15180223C>GCA404513868NOTCH3c.3176G>C (p.Gly1059Ala)
c.3017G>C (p.Gly1006Ala)
c.3020G>C (p.Gly1007Ala)
19g.15180223C>TCA404513871NOTCH3c.3176G>A (p.Gly1059Glu)
c.3017G>A (p.Gly1006Glu)
c.3020G>A (p.Gly1007Glu)
19g.15180224C>ACA404513874NOTCH3c.3175G>T (p.Gly1059Trp)
c.3016G>T (p.Gly1006Trp)
c.3019G>T (p.Gly1007Trp)
19g.15180224C>GCA404513879NOTCH3c.3175G>C (p.Gly1059Arg)
c.3016G>C (p.Gly1006Arg)
c.3019G>C (p.Gly1007Arg)
19g.15180224C>TCA404513876NOTCH3c.3175G>A (p.Gly1059Arg)
c.3016G>A (p.Gly1006Arg)
c.3019G>A (p.Gly1007Arg)
19g.15180225A=CA2324744293NOTCH3c.3174T= (p.Gly1058=)
c.3015T= (p.Gly1005=)
c.3018T= (p.Gly1006=)
19g.15180225A>CCA9263160NOTCH3c.3174T>G (p.Gly1058=)
c.3015T>G (p.Gly1005=)
c.3018T>G (p.Gly1006=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180225A>GCA505824415NOTCH3c.3174T>C (p.Gly1058=)
c.3015T>C (p.Gly1005=)
c.3018T>C (p.Gly1006=)
19g.15180225A>TCA505824418NOTCH3c.3174T>A (p.Gly1058=)
c.3015T>A (p.Gly1005=)
c.3018T>A (p.Gly1006=)
 dbSNP
19g.15180226C>ACA9263161NOTCH3c.3173G>T (p.Gly1058Val)
c.3014G>T (p.Gly1005Val)
c.3017G>T (p.Gly1006Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180226C=CA2324744294NOTCH3c.3173G= (p.Gly1058=)
c.3014G= (p.Gly1005=)
c.3017G= (p.Gly1006=)
19g.15180226C>GCA404513882NOTCH3c.3173G>C (p.Gly1058Ala)
c.3014G>C (p.Gly1005Ala)
c.3017G>C (p.Gly1006Ala)
19g.15180226C>TCA404513884NOTCH3c.3173G>A (p.Gly1058Asp)
c.3014G>A (p.Gly1005Asp)
c.3017G>A (p.Gly1006Asp)
19g.15180227C>ACA404513887NOTCH3c.3172G>T (p.Gly1058Cys)
c.3013G>T (p.Gly1005Cys)
c.3016G>T (p.Gly1006Cys)
 ClinVar
19g.15180227C>GCA404513890NOTCH3c.3172G>C (p.Gly1058Arg)
c.3013G>C (p.Gly1005Arg)
c.3016G>C (p.Gly1006Arg)
19g.15180227C>TCA404513892NOTCH3c.3172G>A (p.Gly1058Ser)
c.3013G>A (p.Gly1005Ser)
c.3016G>A (p.Gly1006Ser)
 gnomAD v4
19g.15180229_15180231delCA2583062883NOTCH3c.3170_3172del (p.Ala1057del)
c.3011_3013del (p.Ala1004del)
c.3014_3016del (p.Ala1005del)
 gnomAD v4
19g.15180228C>ACA505824434NOTCH3c.3171G>T (p.Ala1057=)
c.3012G>T (p.Ala1004=)
c.3015G>T (p.Ala1005=)
19g.15180228C=CA2324744295NOTCH3c.3171G= (p.Ala1057=)
c.3012G= (p.Ala1004=)
c.3015G= (p.Ala1005=)
19g.15180228C>GCA9263162NOTCH3c.3171G>C (p.Ala1057=)
c.3012G>C (p.Ala1004=)
c.3015G>C (p.Ala1005=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180228C>TCA505824437NOTCH3c.3171G>A (p.Ala1057=)
c.3012G>A (p.Ala1004=)
c.3015G>A (p.Ala1005=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15180229G>ACA9263163NOTCH3c.3170C>T (p.Ala1057Val)
c.3011C>T (p.Ala1004Val)
c.3014C>T (p.Ala1005Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180229G>CCA404513894NOTCH3c.3170C>G (p.Ala1057Gly)
c.3011C>G (p.Ala1004Gly)
c.3014C>G (p.Ala1005Gly)
 dbSNP
19g.15180229G=CA2324744296NOTCH3c.3170C= (p.Ala1057=)
c.3011C= (p.Ala1004=)
c.3014C= (p.Ala1005=)
19g.15180229G>TCA404513896NOTCH3c.3170C>A (p.Ala1057Glu)
c.3011C>A (p.Ala1004Glu)
c.3014C>A (p.Ala1005Glu)
19g.15180230C>ACA404513901NOTCH3c.3169G>T (p.Ala1057Ser)
c.3010G>T (p.Ala1004Ser)
c.3013G>T (p.Ala1005Ser)
19g.15180230C>GCA404513898NOTCH3c.3169G>C (p.Ala1057Pro)
c.3010G>C (p.Ala1004Pro)
c.3013G>C (p.Ala1005Pro)
19g.15180230C>TCA404513900NOTCH3c.3169G>A (p.Ala1057Thr)
c.3010G>A (p.Ala1004Thr)
c.3013G>A (p.Ala1005Thr)
 dbSNP gnomAD v4
19g.15180231C>ACA404513903NOTCH3c.3168G>T (p.Gln1056His)
c.3009G>T (p.Gln1003His)
c.3012G>T (p.Gln1004His)
19g.15180231C>GCA404513904NOTCH3c.3168G>C (p.Gln1056His)
c.3009G>C (p.Gln1003His)
c.3012G>C (p.Gln1004His)
 COSMIC COSMIC
19g.15180231C>TCA505824461NOTCH3c.3168G>A (p.Gln1056=)
c.3009G>A (p.Gln1003=)
c.3012G>A (p.Gln1004=)
19g.15180231_15180247dupCA2583062884NOTCH3c.3152_3168dup (p.Ala1057TrpfsTer?)
c.2993_3009dup (p.Ala1004TrpfsTer?)
c.2996_3012dup (p.Ala1005TrpfsTer?)
 gnomAD v4
19g.15180232T>ACA404513906NOTCH3c.3167A>T (p.Gln1056Leu)
c.3008A>T (p.Gln1003Leu)
c.3011A>T (p.Gln1004Leu)
19g.15180232T>CCA404513908NOTCH3c.3167A>G (p.Gln1056Arg)
c.3008A>G (p.Gln1003Arg)
c.3011A>G (p.Gln1004Arg)
19g.15180232T>GCA404513909NOTCH3c.3167A>C (p.Gln1056Pro)
c.3008A>C (p.Gln1003Pro)
c.3011A>C (p.Gln1004Pro)
19g.15180233G>ACA404513910NOTCH3c.3166C>T (p.Gln1056Ter)
c.3007C>T (p.Gln1003Ter)
c.3010C>T (p.Gln1004Ter)
19g.15180233G>CCA404513911NOTCH3c.3166C>G (p.Gln1056Glu)
c.3007C>G (p.Gln1003Glu)
c.3010C>G (p.Gln1004Glu)
19g.15180233G>TCA404513913NOTCH3c.3166C>A (p.Gln1056Lys)
c.3007C>A (p.Gln1003Lys)
c.3010C>A (p.Gln1004Lys)
19g.15180234A>CCA404513915NOTCH3c.3165T>G (p.Cys1055Trp)
c.3006T>G (p.Cys1002Trp)
c.3009T>G (p.Cys1003Trp)
19g.15180234A>GCA505824481NOTCH3c.3165T>C (p.Cys1055=)
c.3006T>C (p.Cys1002=)
c.3009T>C (p.Cys1003=)
 dbSNP gnomAD v4
19g.15180234A>TCA404513916NOTCH3c.3165T>A (p.Cys1055Ter)
c.3006T>A (p.Cys1002Ter)
c.3009T>A (p.Cys1003Ter)
19g.15180235C>ACA404513918NOTCH3c.3164G>T (p.Cys1055Phe)
c.3005G>T (p.Cys1002Phe)
c.3008G>T (p.Cys1003Phe)
19g.15180235C>GCA404513920NOTCH3c.3164G>C (p.Cys1055Ser)
c.3005G>C (p.Cys1002Ser)
c.3008G>C (p.Cys1003Ser)
19g.15180235C>TCA404513917NOTCH3c.3164G>A (p.Cys1055Tyr)
c.3005G>A (p.Cys1002Tyr)
c.3008G>A (p.Cys1003Tyr)
 gnomAD v4
19g.15180236A>CCA404513921NOTCH3c.3163T>G (p.Cys1055Gly)
c.3004T>G (p.Cys1002Gly)
c.3007T>G (p.Cys1003Gly)
19g.15180236A>GCA404513923NOTCH3c.3163T>C (p.Cys1055Arg)
c.3004T>C (p.Cys1002Arg)
c.3007T>C (p.Cys1003Arg)
19g.15180236A>TCA404513925NOTCH3c.3163T>A (p.Cys1055Ser)
c.3004T>A (p.Cys1002Ser)
c.3007T>A (p.Cys1003Ser)
19g.15180237C>ACA505824504NOTCH3c.3162G>T (p.Leu1054=)
c.3003G>T (p.Leu1001=)
c.3006G>T (p.Leu1002=)
 dbSNP
19g.15180237C=CA2324744297NOTCH3c.3162G= (p.Leu1054=)
c.3003G= (p.Leu1001=)
c.3006G= (p.Leu1002=)
19g.15180237C>GCA505824507NOTCH3c.3162G>C (p.Leu1054=)
c.3003G>C (p.Leu1001=)
c.3006G>C (p.Leu1002=)
 gnomAD v4
19g.15180237C>TCA505824511NOTCH3c.3162G>A (p.Leu1054=)
c.3003G>A (p.Leu1001=)
c.3006G>A (p.Leu1002=)
19g.15180238A>CCA404513926NOTCH3c.3161T>G (p.Leu1054Arg)
c.3002T>G (p.Leu1001Arg)
c.3005T>G (p.Leu1002Arg)
 COSMIC
19g.15180238A>GCA404513927NOTCH3c.3161T>C (p.Leu1054Pro)
c.3002T>C (p.Leu1001Pro)
c.3005T>C (p.Leu1002Pro)
19g.15180238A>TCA404513929NOTCH3c.3161T>A (p.Leu1054Gln)
c.3002T>A (p.Leu1001Gln)
c.3005T>A (p.Leu1002Gln)
19g.15180239G>ACA505824526NOTCH3c.3160C>T (p.Leu1054=)
c.3001C>T (p.Leu1001=)
c.3004C>T (p.Leu1002=)
 dbSNP gnomAD v4
19g.15180239G>CCA404513930NOTCH3c.3160C>G (p.Leu1054Val)
c.3001C>G (p.Leu1001Val)
c.3004C>G (p.Leu1002Val)
19g.15180239G=CA2324744298NOTCH3c.3160C= (p.Leu1054=)
c.3001C= (p.Leu1001=)
c.3004C= (p.Leu1002=)
19g.15180239G>TCA404513931NOTCH3c.3160C>A (p.Leu1054Met)
c.3001C>A (p.Leu1001Met)
c.3004C>A (p.Leu1002Met)
 gnomAD v4
19g.15180240C>ACA404513932NOTCH3c.3159G>T (p.Gln1053His)
c.3000G>T (p.Gln1000His)
c.3003G>T (p.Gln1001His)
 dbSNP gnomAD v3 gnomAD v4
19g.15180240C=CA2324744299NOTCH3c.3159G= (p.Gln1053=)
c.3000G= (p.Gln1000=)
c.3003G= (p.Gln1001=)
19g.15180240C>GCA404513933NOTCH3c.3159G>C (p.Gln1053His)
c.3000G>C (p.Gln1000His)
c.3003G>C (p.Gln1001His)
19g.15180240C>TCA505824536NOTCH3c.3159G>A (p.Gln1053=)
c.3000G>A (p.Gln1000=)
c.3003G>A (p.Gln1001=)
 dbSNP
19g.15180241T>ACA404513935NOTCH3c.3158A>T (p.Gln1053Leu)
c.2999A>T (p.Gln1000Leu)
c.3002A>T (p.Gln1001Leu)
19g.15180241T>CCA404513937NOTCH3c.3158A>G (p.Gln1053Arg)
c.2999A>G (p.Gln1000Arg)
c.3002A>G (p.Gln1001Arg)
19g.15180241T>GCA404513938NOTCH3c.3158A>C (p.Gln1053Pro)
c.2999A>C (p.Gln1000Pro)
c.3002A>C (p.Gln1001Pro)
19g.15180242G>ACA404513941NOTCH3c.3157C>T (p.Gln1053Ter)
c.2998C>T (p.Gln1000Ter)
c.3001C>T (p.Gln1001Ter)
 dbSNP gnomAD v4
19g.15180242G>CCA404513940NOTCH3c.3157C>G (p.Gln1053Glu)
c.2998C>G (p.Gln1000Glu)
c.3001C>G (p.Gln1001Glu)
19g.15180242G>TCA404513939NOTCH3c.3157C>A (p.Gln1053Lys)
c.2998C>A (p.Gln1000Lys)
c.3001C>A (p.Gln1001Lys)
19g.15180243C>ACA404513942NOTCH3c.3156G>T (p.Glu1052Asp)
c.2997G>T (p.Glu999Asp)
c.3000G>T (p.Glu1000Asp)
19g.15180243C=CA2324744300NOTCH3c.3156G= (p.Glu1052=)
c.2997G= (p.Glu999=)
c.3000G= (p.Glu1000=)
19g.15180243C>GCA404513943NOTCH3c.3156G>C (p.Glu1052Asp)
c.2997G>C (p.Glu999Asp)
c.3000G>C (p.Glu1000Asp)
19g.15180243C>TCA505824567NOTCH3c.3156G>A (p.Glu1052=)
c.2997G>A (p.Glu999=)
c.3000G>A (p.Glu1000=)
 dbSNP gnomAD v4
19g.15180244T>ACA404513944NOTCH3c.3155A>T (p.Glu1052Val)
c.2996A>T (p.Glu999Val)
c.2999A>T (p.Glu1000Val)
19g.15180244T>CCA9263164NOTCH3c.3155A>G (p.Glu1052Gly)
c.2996A>G (p.Glu999Gly)
c.2999A>G (p.Glu1000Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180244T>GCA404513946NOTCH3c.3155A>C (p.Glu1052Ala)
c.2996A>C (p.Glu999Ala)
c.2999A>C (p.Glu1000Ala)
19g.15180244T=CA2324744301NOTCH3c.3155A= (p.Glu1052=)
c.2996A= (p.Glu999=)
c.2999A= (p.Glu1000=)
19g.15180245C>ACA404513947NOTCH3c.3154G>T (p.Glu1052Ter)
c.2995G>T (p.Glu999Ter)
c.2998G>T (p.Glu1000Ter)
19g.15180245C>GCA404513949NOTCH3c.3154G>C (p.Glu1052Gln)
c.2995G>C (p.Glu999Gln)
c.2998G>C (p.Glu1000Gln)
 dbSNP
19g.15180245C>TCA404513950NOTCH3c.3154G>A (p.Glu1052Lys)
c.2995G>A (p.Glu999Lys)
c.2998G>A (p.Glu1000Lys)
19g.15180246C>ACA505824586NOTCH3c.3153G>T (p.Leu1051=)
c.2994G>T (p.Leu998=)
c.2997G>T (p.Leu999=)
19g.15180246C>GCA505824595NOTCH3c.3153G>C (p.Leu1051=)
c.2994G>C (p.Leu998=)
c.2997G>C (p.Leu999=)
19g.15180246C>TCA505824596NOTCH3c.3153G>A (p.Leu1051=)
c.2994G>A (p.Leu998=)
c.2997G>A (p.Leu999=)
19g.15180247A>CCA404513951NOTCH3c.3152T>G (p.Leu1051Arg)
c.2993T>G (p.Leu998Arg)
c.2996T>G (p.Leu999Arg)
19g.15180247A>GCA404513953NOTCH3c.3152T>C (p.Leu1051Pro)
c.2993T>C (p.Leu998Pro)
c.2996T>C (p.Leu999Pro)
19g.15180247A>TCA404513954NOTCH3c.3152T>A (p.Leu1051Gln)
c.2993T>A (p.Leu998Gln)
c.2996T>A (p.Leu999Gln)
19g.15180248G>ACA505824599NOTCH3c.3151C>T (p.Leu1051=)
c.2992C>T (p.Leu998=)
c.2995C>T (p.Leu999=)
19g.15180248G>CCA404513956NOTCH3c.3151C>G (p.Leu1051Val)
c.2992C>G (p.Leu998Val)
c.2995C>G (p.Leu999Val)
19g.15180248G>TCA404513957NOTCH3c.3151C>A (p.Leu1051Met)
c.2992C>A (p.Leu998Met)
c.2995C>A (p.Leu999Met)
 gnomAD v4
19g.15180249C>ACA505824619NOTCH3c.3150G>T (p.Arg1050=)
c.2991G>T (p.Arg997=)
c.2994G>T (p.Arg998=)
 COSMIC COSMIC
19g.15180249C>GCA505824622NOTCH3c.3150G>C (p.Arg1050=)
c.2991G>C (p.Arg997=)
c.2994G>C (p.Arg998=)
19g.15180249C>TCA505824615NOTCH3c.3150G>A (p.Arg1050=)
c.2991G>A (p.Arg997=)
c.2994G>A (p.Arg998=)
 dbSNP
19g.15180250C>ACA404513960NOTCH3c.3149G>T (p.Arg1050Leu)
c.2990G>T (p.Arg997Leu)
c.2993G>T (p.Arg998Leu)
 COSMIC COSMIC
19g.15180250C=CA2324744302NOTCH3c.3149G= (p.Arg1050=)
c.2990G= (p.Arg997=)
c.2993G= (p.Arg998=)
19g.15180250C>GCA404513961NOTCH3c.3149G>C (p.Arg1050Pro)
c.2990G>C (p.Arg997Pro)
c.2993G>C (p.Arg998Pro)
19g.15180250C>TCA9263165NOTCH3c.3149G>A (p.Arg1050Gln)
c.2990G>A (p.Arg997Gln)
c.2993G>A (p.Arg998Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180251G>ACA9263166NOTCH3c.3148C>T (p.Arg1050Trp)
c.2989C>T (p.Arg997Trp)
c.2992C>T (p.Arg998Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180251G>CCA404513963NOTCH3c.3148C>G (p.Arg1050Gly)
c.2989C>G (p.Arg997Gly)
c.2992C>G (p.Arg998Gly)
19g.15180251G=CA2324744303NOTCH3c.3148C= (p.Arg1050=)
c.2989C= (p.Arg997=)
c.2992C= (p.Arg998=)
19g.15180251G>TCA9263167NOTCH3c.3148C>A (p.Arg1050=)
c.2989C>A (p.Arg997=)
c.2992C>A (p.Arg998=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180252C>ACA505824650NOTCH3c.3147G>T (p.Val1049=)
c.2988G>T (p.Val996=)
c.2991G>T (p.Val997=)
19g.15180252C>GCA505824646NOTCH3c.3147G>C (p.Val1049=)
c.2988G>C (p.Val996=)
c.2991G>C (p.Val997=)
19g.15180252C>TCA505824643NOTCH3c.3147G>A (p.Val1049=)
c.2988G>A (p.Val996=)
c.2991G>A (p.Val997=)
19g.15180253A>CCA404513965NOTCH3c.3146T>G (p.Val1049Gly)
c.2987T>G (p.Val996Gly)
c.2990T>G (p.Val997Gly)
 dbSNP
19g.15180253A>GCA404513966NOTCH3c.3146T>C (p.Val1049Ala)
c.2987T>C (p.Val996Ala)
c.2990T>C (p.Val997Ala)
19g.15180253A>TCA404513967NOTCH3c.3146T>A (p.Val1049Glu)
c.2987T>A (p.Val996Glu)
c.2990T>A (p.Val997Glu)
19g.15180254C>ACA404513970NOTCH3c.3145G>T (p.Val1049Leu)
c.2986G>T (p.Val996Leu)
c.2989G>T (p.Val997Leu)
19g.15180254C>GCA404513969NOTCH3c.3145G>C (p.Val1049Leu)
c.2986G>C (p.Val996Leu)
c.2989G>C (p.Val997Leu)
19g.15180254C>TCA404513968NOTCH3c.3145G>A (p.Val1049Met)
c.2986G>A (p.Val996Met)
c.2989G>A (p.Val997Met)
19g.15180255C>ACA505824671NOTCH3c.3144G>T (p.Gly1048=)
c.2985G>T (p.Gly995=)
c.2988G>T (p.Gly996=)
19g.15180255C>GCA505824676NOTCH3c.3144G>C (p.Gly1048=)
c.2985G>C (p.Gly995=)
c.2988G>C (p.Gly996=)
 dbSNP
19g.15180255C>TCA505824674NOTCH3c.3144G>A (p.Gly1048=)
c.2985G>A (p.Gly995=)
c.2988G>A (p.Gly996=)
19g.15180256C>ACA404513971NOTCH3c.3143G>T (p.Gly1048Val)
c.2984G>T (p.Gly995Val)
c.2987G>T (p.Gly996Val)
 dbSNP
19g.15180256C>GCA404513972NOTCH3c.3143G>C (p.Gly1048Ala)
c.2984G>C (p.Gly995Ala)
c.2987G>C (p.Gly996Ala)
 dbSNP
19g.15180256C>TCA404513973NOTCH3c.3143G>A (p.Gly1048Glu)
c.2984G>A (p.Gly995Glu)
c.2987G>A (p.Gly996Glu)
19g.15180257C>ACA404513974NOTCH3c.3143-1G>T (n.3143-1G>T)
c.2984-1G>T (n.2984-1G>T)
c.2987-1G>T (n.2987-1G>T)
19g.15180257C>GCA404513975NOTCH3c.3143-1G>C (n.3143-1G>C)
c.2984-1G>C (n.2984-1G>C)
c.2987-1G>C (n.2987-1G>C)
19g.15180257C>TCA404513976NOTCH3c.3143-1G>A (n.3143-1G>A)
c.2984-1G>A (n.2984-1G>A)
c.2987-1G>A (n.2987-1G>A)
19g.15180258T>ACA404513978NOTCH3c.3143-2A>T (n.3143-2A>T)
c.2984-2A>T (n.2984-2A>T)
c.2987-2A>T (n.2987-2A>T)
19g.15180258T>CCA404513981NOTCH3c.3143-2A>G (n.3143-2A>G)
c.2984-2A>G (n.2984-2A>G)
c.2987-2A>G (n.2987-2A>G)
19g.15180258T>GCA404513979NOTCH3c.3143-2A>C (n.3143-2A>C)
c.2984-2A>C (n.2984-2A>C)
c.2987-2A>C (n.2987-2A>C)
19g.15180259G>ACA2583062885NOTCH3c.3143-3C>T (n.3143-3C>T)
c.2984-3C>T (n.2984-3C>T)
c.2987-3C>T (n.2987-3C>T)
 dbSNP gnomAD v4
19g.15180259G>TCA645600799NOTCH3c.3143-3C>A (n.3143-3C>A)
c.2984-3C>A (n.2984-3C>A)
c.2987-3C>A (n.2987-3C>A)
 COSMIC COSMIC
19g.15180260C>ACA9263168NOTCH3c.3143-4G>T (n.3143-4G>T)
c.2984-4G>T (n.2984-4G>T)
c.2987-4G>T (n.2987-4G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180260C=CA2324744304NOTCH3c.3143-4G= (n.3143-4G=)
c.2984-4G= (n.2984-4G=)
c.2987-4G= (n.2987-4G=)
19g.15180260C>GCA2583062887NOTCH3c.3143-4G>C (n.3143-4G>C)
c.2984-4G>C (n.2984-4G>C)
c.2987-4G>C (n.2987-4G>C)
 gnomAD v4
19g.15180260C>TCA2583062886NOTCH3c.3143-4G>A (n.3143-4G>A)
c.2984-4G>A (n.2984-4G>A)
c.2987-4G>A (n.2987-4G>A)
 gnomAD v4
19g.15180261A>GCA2583062888NOTCH3c.3143-5T>C (n.3143-5T>C)
c.2984-5T>C (n.2984-5T>C)
c.2987-5T>C (n.2987-5T>C)
 gnomAD v4
19g.15180263A>GCA2580096646NOTCH3c.3143-7T>C (n.3143-7T>C)
c.2984-7T>C (n.2984-7T>C)
c.2987-7T>C (n.2987-7T>C)
 ClinVar
19g.15180263_15180266delinsAGAGCA2324744305NOTCH3c.3143-10_3143-7delinsCTCT (n.3143-10_3143-7delinsCTCT)
c.2984-10_2984-7delinsCTCT (n.2984-10_2984-7delinsCTCT)
c.2987-10_2987-7delinsCTCT (n.2987-10_2987-7delinsCTCT)
19g.15180264G>CCA2735795559NOTCH3c.3143-8C>G (n.3143-8C>G)
c.2984-8C>G (n.2984-8C>G)
c.2987-8C>G (n.2987-8C>G)
 dbSNP
19g.15180267_15180269delCA783615642NOTCH3c.3143-10_3143-8del (n.3143-10_3143-8del)
c.2984-10_2984-8del (n.2984-10_2984-8del)
c.2987-10_2987-8del (n.2987-10_2987-8del)
 dbSNP gnomAD v3 gnomAD v4
19g.15180265A=CA2324744306NOTCH3c.3143-9T= (n.3143-9T=)
c.2984-9T= (n.2984-9T=)
c.2987-9T= (n.2987-9T=)
19g.15180265A>GCA632128163NOTCH3c.3143-9T>C (n.3143-9T>C)
c.2984-9T>C (n.2984-9T>C)
c.2987-9T>C (n.2987-9T>C)
 dbSNP gnomAD v2 gnomAD v4
19g.15180265A>TCA2583062889NOTCH3c.3143-9T>A (n.3143-9T>A)
c.2984-9T>A (n.2984-9T>A)
c.2987-9T>A (n.2987-9T>A)
 gnomAD v4
19g.15180266G>ACA2583062890NOTCH3c.3143-10C>T (n.3143-10C>T)
c.2984-10C>T (n.2984-10C>T)
c.2987-10C>T (n.2987-10C>T)
 gnomAD v4
19g.15180266G>CCA2583062891NOTCH3c.3143-10C>G (n.3143-10C>G)
c.2984-10C>G (n.2984-10C>G)
c.2987-10C>G (n.2987-10C>G)
 gnomAD v4
19g.15180267G>ACA2583062892NOTCH3c.3143-11C>T (n.3143-11C>T)
c.2984-11C>T (n.2984-11C>T)
c.2987-11C>T (n.2987-11C>T)
 gnomAD v4
19g.15180267G>CCA2576654455NOTCH3c.3143-11C>G (n.3143-11C>G)
c.2984-11C>G (n.2984-11C>G)
c.2987-11C>G (n.2987-11C>G)
19g.15180269G>CCA632128164NOTCH3c.3143-13C>G (n.3143-13C>G)
c.2984-13C>G (n.2984-13C>G)
c.2987-13C>G (n.2987-13C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15180269G=CA2324744307NOTCH3c.3143-13C= (n.3143-13C=)
c.2984-13C= (n.2984-13C=)
c.2987-13C= (n.2987-13C=)
19g.15180274G>ACA9263169NOTCH3c.3143-18C>T (n.3143-18C>T)
c.2984-18C>T (n.2984-18C>T)
c.2987-18C>T (n.2987-18C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180274G>CCA2576654456NOTCH3c.3143-18C>G (n.3143-18C>G)
c.2984-18C>G (n.2984-18C>G)
c.2987-18C>G (n.2987-18C>G)
 gnomAD v4
19g.15180274G=CA2324744308NOTCH3c.3143-18C= (n.3143-18C=)
c.2984-18C= (n.2984-18C=)
c.2987-18C= (n.2987-18C=)
19g.15180275C>ACA2813714775NOTCH3c.3143-19G>T (n.3143-19G>T)
c.2984-19G>T (n.2984-19G>T)
c.2987-19G>T (n.2987-19G>T)
19g.15180277C>GCA2583062893NOTCH3c.3143-21G>C (n.3143-21G>C)
c.2984-21G>C (n.2984-21G>C)
c.2987-21G>C (n.2987-21G>C)
 gnomAD v4
19g.15180277C>TCA2583062894NOTCH3c.3143-21G>A (n.3143-21G>A)
c.2984-21G>A (n.2984-21G>A)
c.2987-21G>A (n.2987-21G>A)
 gnomAD v4
19g.15180279G>ACA993900338NOTCH3c.3143-23C>T (n.3143-23C>T)
c.2984-23C>T (n.2984-23C>T)
c.2987-23C>T (n.2987-23C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.15180279G=CA2324744309NOTCH3c.3143-23C= (n.3143-23C=)
c.2984-23C= (n.2984-23C=)
c.2987-23C= (n.2987-23C=)
19g.15180279G>TCA2583062895NOTCH3c.3143-23C>A (n.3143-23C>A)
c.2984-23C>A (n.2984-23C>A)
c.2987-23C>A (n.2987-23C>A)
 gnomAD v4
19g.15180280G>ACA2576654457NOTCH3c.3143-24C>T (n.3143-24C>T)
c.2984-24C>T (n.2984-24C>T)
c.2987-24C>T (n.2987-24C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.15180280G=CA2324744310NOTCH3c.3143-24C= (n.3143-24C=)
c.2984-24C= (n.2984-24C=)
c.2987-24C= (n.2987-24C=)
19g.15180280G>TCA9263170NOTCH3c.3143-24C>A (n.3143-24C>A)
c.2984-24C>A (n.2984-24C>A)
c.2987-24C>A (n.2987-24C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180281A>GCA2583062896NOTCH3c.3143-25T>C (n.3143-25T>C)
c.2984-25T>C (n.2984-25T>C)
c.2987-25T>C (n.2987-25T>C)
 gnomAD v4
19g.15180282A=CA2324744311NOTCH3c.3143-26T= (n.3143-26T=)
c.2984-26T= (n.2984-26T=)
c.2987-26T= (n.2987-26T=)
19g.15180282A>CCA993900341NOTCH3c.3143-26T>G (n.3143-26T>G)
c.2984-26T>G (n.2984-26T>G)
c.2987-26T>G (n.2987-26T>G)
 dbSNP gnomAD v3 gnomAD v4
19g.15180283_15180284delCA2583062897NOTCH3c.3143-27_3143-26del (n.3143-27_3143-26del)
c.2984-27_2984-26del (n.2984-27_2984-26del)
c.2987-27_2987-26del (n.2987-27_2987-26del)
 gnomAD v4
19g.15180283C=CA2324744312NOTCH3c.3143-27G= (n.3143-27G=)
c.2984-27G= (n.2984-27G=)
c.2987-27G= (n.2987-27G=)
19g.15180283C>TCA9263171NOTCH3c.3143-27G>A (n.3143-27G>A)
c.2984-27G>A (n.2984-27G>A)
c.2987-27G>A (n.2987-27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180284A=CA2324744313NOTCH3c.3143-28T= (n.3143-28T=)
c.2984-28T= (n.2984-28T=)
c.2987-28T= (n.2987-28T=)
19g.15180284A>GCA632128165NOTCH3c.3143-28T>C (n.3143-28T>C)
c.2984-28T>C (n.2984-28T>C)
c.2987-28T>C (n.2987-28T>C)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched