Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.46366891T>ACA410569615PCNTc.*1413T>A (n.*1413T>A)
n.3003T>A
c.2917T>A (p.Ser973Thr)
c.*2160T>A (n.*2160T>A)
n.3186T>A
c.2563T>A (p.Ser855Thr)
c.2998T>A (p.Ser1000Thr)
c.1801T>A (p.Ser601Thr)
c.697T>A (p.Ser233Thr)
21g.46366891T>CCA410569616PCNTc.*1413T>C (n.*1413T>C)
n.3003T>C
c.2917T>C (p.Ser973Pro)
c.*2160T>C (n.*2160T>C)
n.3186T>C
c.2563T>C (p.Ser855Pro)
c.2998T>C (p.Ser1000Pro)
c.1801T>C (p.Ser601Pro)
c.697T>C (p.Ser233Pro)
21g.46366891T>GCA410569617PCNTc.*1413T>G (n.*1413T>G)
n.3003T>G
c.2917T>G (p.Ser973Ala)
c.*2160T>G (n.*2160T>G)
n.3186T>G
c.2563T>G (p.Ser855Ala)
c.2998T>G (p.Ser1000Ala)
c.1801T>G (p.Ser601Ala)
c.697T>G (p.Ser233Ala)
21g.46366892C>ACA410569618PCNTc.*1414C>A (n.*1414C>A)
n.3004C>A
c.2918C>A (p.Ser973Tyr)
c.*2161C>A (n.*2161C>A)
n.3187C>A
c.2564C>A (p.Ser855Tyr)
c.2999C>A (p.Ser1000Tyr)
c.1802C>A (p.Ser601Tyr)
c.698C>A (p.Ser233Tyr)
21g.46366892C>GCA410569619PCNTc.*1414C>G (n.*1414C>G)
n.3004C>G
c.2918C>G (p.Ser973Cys)
c.*2161C>G (n.*2161C>G)
n.3187C>G
c.2564C>G (p.Ser855Cys)
c.2999C>G (p.Ser1000Cys)
c.1802C>G (p.Ser601Cys)
c.698C>G (p.Ser233Cys)
21g.46366892C>TCA410569620PCNTc.*1414C>T (n.*1414C>T)
n.3004C>T
c.2918C>T (p.Ser973Phe)
c.*2161C>T (n.*2161C>T)
n.3187C>T
c.2564C>T (p.Ser855Phe)
c.2999C>T (p.Ser1000Phe)
c.1802C>T (p.Ser601Phe)
c.698C>T (p.Ser233Phe)
 COSMIC
21g.46366893C>ACA513173621PCNTc.*1415C>A (n.*1415C>A)
n.3005C>A
c.2919C>A (p.Ser973=)
c.*2162C>A (n.*2162C>A)
n.3188C>A
c.2565C>A (p.Ser855=)
c.3000C>A (p.Ser1000=)
c.1803C>A (p.Ser601=)
c.699C>A (p.Ser233=)
21g.46366893C>GCA513173622PCNTc.*1415C>G (n.*1415C>G)
n.3005C>G
c.2919C>G (p.Ser973=)
c.*2162C>G (n.*2162C>G)
n.3188C>G
c.2565C>G (p.Ser855=)
c.3000C>G (p.Ser1000=)
c.1803C>G (p.Ser601=)
c.699C>G (p.Ser233=)
21g.46366893C>TCA513173625PCNTc.*1415C>T (n.*1415C>T)
n.3005C>T
c.2919C>T (p.Ser973=)
c.*2162C>T (n.*2162C>T)
n.3188C>T
c.2565C>T (p.Ser855=)
c.3000C>T (p.Ser1000=)
c.1803C>T (p.Ser601=)
c.699C>T (p.Ser233=)
21g.46366894T>ACA410569623PCNTc.*1416T>A (n.*1416T>A)
n.3006T>A
c.2920T>A (p.Cys974Ser)
c.*2163T>A (n.*2163T>A)
n.3189T>A
c.2566T>A (p.Cys856Ser)
c.3001T>A (p.Cys1001Ser)
c.1804T>A (p.Cys602Ser)
c.700T>A (p.Cys234Ser)
21g.46366894T>CCA410569621PCNTc.*1416T>C (n.*1416T>C)
n.3006T>C
c.2920T>C (p.Cys974Arg)
c.*2163T>C (n.*2163T>C)
n.3189T>C
c.2566T>C (p.Cys856Arg)
c.3001T>C (p.Cys1001Arg)
c.1804T>C (p.Cys602Arg)
c.700T>C (p.Cys234Arg)
21g.46366894T>GCA410569622PCNTc.*1416T>G (n.*1416T>G)
n.3006T>G
c.2920T>G (p.Cys974Gly)
c.*2163T>G (n.*2163T>G)
n.3189T>G
c.2566T>G (p.Cys856Gly)
c.3001T>G (p.Cys1001Gly)
c.1804T>G (p.Cys602Gly)
c.700T>G (p.Cys234Gly)
21g.46366895G>ACA10079130PCNTc.*1417G>A (n.*1417G>A)
n.3007G>A
c.2921G>A (p.Cys974Tyr)
c.*2164G>A (n.*2164G>A)
n.3190G>A
c.2567G>A (p.Cys856Tyr)
c.3002G>A (p.Cys1001Tyr)
c.1805G>A (p.Cys602Tyr)
c.701G>A (p.Cys234Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46366895G>CCA410569624PCNTc.*1417G>C (n.*1417G>C)
n.3007G>C
c.2921G>C (p.Cys974Ser)
c.*2164G>C (n.*2164G>C)
n.3190G>C
c.2567G>C (p.Cys856Ser)
c.3002G>C (p.Cys1001Ser)
c.1805G>C (p.Cys602Ser)
c.701G>C (p.Cys234Ser)
21g.46366895G=CA2392640159PCNTc.*1417G= (n.*1417G=)
n.3007G=
c.2921G= (p.Cys974=)
c.*2164G= (n.*2164G=)
n.3190G=
c.2567G= (p.Cys856=)
c.3002G= (p.Cys1001=)
c.1805G= (p.Cys602=)
c.701G= (p.Cys234=)
21g.46366895G>TCA410569625PCNTc.*1417G>T (n.*1417G>T)
n.3007G>T
c.2921G>T (p.Cys974Phe)
c.*2164G>T (n.*2164G>T)
n.3190G>T
c.2567G>T (p.Cys856Phe)
c.3002G>T (p.Cys1001Phe)
c.1805G>T (p.Cys602Phe)
c.701G>T (p.Cys234Phe)
21g.46366896T>ACA410569626PCNTc.*1418T>A (n.*1418T>A)
n.3008T>A
c.2922T>A (p.Cys974Ter)
c.*2165T>A (n.*2165T>A)
n.3191T>A
c.2568T>A (p.Cys856Ter)
c.3003T>A (p.Cys1001Ter)
c.1806T>A (p.Cys602Ter)
c.702T>A (p.Cys234Ter)
21g.46366896T>CCA513173629PCNTc.*1418T>C (n.*1418T>C)
n.3008T>C
c.2922T>C (p.Cys974=)
c.*2165T>C (n.*2165T>C)
n.3191T>C
c.2568T>C (p.Cys856=)
c.3003T>C (p.Cys1001=)
c.1806T>C (p.Cys602=)
c.702T>C (p.Cys234=)
21g.46366896T>GCA410569627PCNTc.*1418T>G (n.*1418T>G)
n.3008T>G
c.2922T>G (p.Cys974Trp)
c.*2165T>G (n.*2165T>G)
n.3191T>G
c.2568T>G (p.Cys856Trp)
c.3003T>G (p.Cys1001Trp)
c.1806T>G (p.Cys602Trp)
c.702T>G (p.Cys234Trp)
21g.46366897delCA2741701768PCNTc.*1419del (n.*1419del)
n.3009del
c.2923del (p.Tyr975ThrfsTer16)
c.*2166del (n.*2166del)
n.3192del
c.2569del (p.Tyr857ThrfsTer16)
c.3004del (p.Tyr1002ThrfsTer16)
c.1807del (p.Tyr603ThrfsTer16)
c.703del (p.Tyr235ThrfsTer16)
21g.46366897T>ACA410569628PCNTc.*1419T>A (n.*1419T>A)
n.3009T>A
c.2923T>A (p.Tyr975Asn)
c.*2166T>A (n.*2166T>A)
n.3192T>A
c.2569T>A (p.Tyr857Asn)
c.3004T>A (p.Tyr1002Asn)
c.1807T>A (p.Tyr603Asn)
c.703T>A (p.Tyr235Asn)
21g.46366897T>CCA410569630PCNTc.*1419T>C (n.*1419T>C)
n.3009T>C
c.2923T>C (p.Tyr975His)
c.*2166T>C (n.*2166T>C)
n.3192T>C
c.2569T>C (p.Tyr857His)
c.3004T>C (p.Tyr1002His)
c.1807T>C (p.Tyr603His)
c.703T>C (p.Tyr235His)
 dbSNP
21g.46366897T>GCA410569629PCNTc.*1419T>G (n.*1419T>G)
n.3009T>G
c.2923T>G (p.Tyr975Asp)
c.*2166T>G (n.*2166T>G)
n.3192T>G
c.2569T>G (p.Tyr857Asp)
c.3004T>G (p.Tyr1002Asp)
c.1807T>G (p.Tyr603Asp)
c.703T>G (p.Tyr235Asp)
21g.46366898A=CA2392640160PCNTc.*1420A= (n.*1420A=)
n.3010A=
c.2924A= (p.Tyr975=)
c.*2167A= (n.*2167A=)
n.3193A=
c.2570A= (p.Tyr857=)
c.3005A= (p.Tyr1002=)
c.1808A= (p.Tyr603=)
c.704A= (p.Tyr235=)
21g.46366898A>CCA410569631PCNTc.*1420A>C (n.*1420A>C)
n.3010A>C
c.2924A>C (p.Tyr975Ser)
c.*2167A>C (n.*2167A>C)
n.3193A>C
c.2570A>C (p.Tyr857Ser)
c.3005A>C (p.Tyr1002Ser)
c.1808A>C (p.Tyr603Ser)
c.704A>C (p.Tyr235Ser)
21g.46366898A>GCA10079131PCNTc.*1420A>G (n.*1420A>G)
n.3010A>G
c.2924A>G (p.Tyr975Cys)
c.*2167A>G (n.*2167A>G)
n.3193A>G
c.2570A>G (p.Tyr857Cys)
c.3005A>G (p.Tyr1002Cys)
c.1808A>G (p.Tyr603Cys)
c.704A>G (p.Tyr235Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46366898A>TCA410569632PCNTc.*1420A>T (n.*1420A>T)
n.3010A>T
c.2924A>T (p.Tyr975Phe)
c.*2167A>T (n.*2167A>T)
n.3193A>T
c.2570A>T (p.Tyr857Phe)
c.3005A>T (p.Tyr1002Phe)
c.1808A>T (p.Tyr603Phe)
c.704A>T (p.Tyr235Phe)
21g.46366899C>ACA410569633PCNTc.*1421C>A (n.*1421C>A)
n.3011C>A
c.2925C>A (p.Tyr975Ter)
c.*2168C>A (n.*2168C>A)
n.3194C>A
c.2571C>A (p.Tyr857Ter)
c.3006C>A (p.Tyr1002Ter)
c.1809C>A (p.Tyr603Ter)
c.705C>A (p.Tyr235Ter)
21g.46366899C=CA2392640161PCNTc.*1421C= (n.*1421C=)
n.3011C=
c.2925C= (p.Tyr975=)
c.*2168C= (n.*2168C=)
n.3194C=
c.2571C= (p.Tyr857=)
c.3006C= (p.Tyr1002=)
c.1809C= (p.Tyr603=)
c.705C= (p.Tyr235=)
21g.46366899C>GCA410569634PCNTc.*1421C>G (n.*1421C>G)
n.3011C>G
c.2925C>G (p.Tyr975Ter)
c.*2168C>G (n.*2168C>G)
n.3194C>G
c.2571C>G (p.Tyr857Ter)
c.3006C>G (p.Tyr1002Ter)
c.1809C>G (p.Tyr603Ter)
c.705C>G (p.Tyr235Ter)
21g.46366899C>TCA10079132PCNTc.*1421C>T (n.*1421C>T)
n.3011C>T
c.2925C>T (p.Tyr975=)
c.*2168C>T (n.*2168C>T)
n.3194C>T
c.2571C>T (p.Tyr857=)
c.3006C>T (p.Tyr1002=)
c.1809C>T (p.Tyr603=)
c.705C>T (p.Tyr235=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.46366900C>ACA410569635PCNTc.*1422C>A (n.*1422C>A)
n.3012C>A
c.2926C>A (p.Leu976Ile)
c.*2169C>A (n.*2169C>A)
n.3195C>A
c.2572C>A (p.Leu858Ile)
c.3007C>A (p.Leu1003Ile)
c.1810C>A (p.Leu604Ile)
c.706C>A (p.Leu236Ile)
21g.46366900C=CA2392640162PCNTc.*1422C= (n.*1422C=)
n.3012C=
c.2926C= (p.Leu976=)
c.*2169C= (n.*2169C=)
n.3195C=
c.2572C= (p.Leu858=)
c.3007C= (p.Leu1003=)
c.1810C= (p.Leu604=)
c.706C= (p.Leu236=)
21g.46366900C>GCA10079133PCNTc.*1422C>G (n.*1422C>G)
n.3012C>G
c.2926C>G (p.Leu976Val)
c.*2169C>G (n.*2169C>G)
n.3195C>G
c.2572C>G (p.Leu858Val)
c.3007C>G (p.Leu1003Val)
c.1810C>G (p.Leu604Val)
c.706C>G (p.Leu236Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46366900C>TCA410569636PCNTc.*1422C>T (n.*1422C>T)
n.3012C>T
c.2926C>T (p.Leu976Phe)
c.*2169C>T (n.*2169C>T)
n.3195C>T
c.2572C>T (p.Leu858Phe)
c.3007C>T (p.Leu1003Phe)
c.1810C>T (p.Leu604Phe)
c.706C>T (p.Leu236Phe)
 dbSNP gnomAD v2 gnomAD v4
21g.46366901T>ACA410569637PCNTc.*1423T>A (n.*1423T>A)
n.3013T>A
c.2927T>A (p.Leu976His)
c.*2170T>A (n.*2170T>A)
n.3196T>A
c.2573T>A (p.Leu858His)
c.3008T>A (p.Leu1003His)
c.1811T>A (p.Leu604His)
c.707T>A (p.Leu236His)
21g.46366901T>CCA410569638PCNTc.*1423T>C (n.*1423T>C)
n.3013T>C
c.2927T>C (p.Leu976Pro)
c.*2170T>C (n.*2170T>C)
n.3196T>C
c.2573T>C (p.Leu858Pro)
c.3008T>C (p.Leu1003Pro)
c.1811T>C (p.Leu604Pro)
c.707T>C (p.Leu236Pro)
21g.46366901T>GCA410569639PCNTc.*1423T>G (n.*1423T>G)
n.3013T>G
c.2927T>G (p.Leu976Arg)
c.*2170T>G (n.*2170T>G)
n.3196T>G
c.2573T>G (p.Leu858Arg)
c.3008T>G (p.Leu1003Arg)
c.1811T>G (p.Leu604Arg)
c.707T>G (p.Leu236Arg)
21g.46366902C>ACA513173632PCNTc.*1424C>A (n.*1424C>A)
n.3014C>A
c.2928C>A (p.Leu976=)
c.*2171C>A (n.*2171C>A)
n.3197C>A
c.2574C>A (p.Leu858=)
c.3009C>A (p.Leu1003=)
c.1812C>A (p.Leu604=)
c.708C>A (p.Leu236=)
 dbSNP
21g.46366902C=CA2392640163PCNTc.*1424C= (n.*1424C=)
n.3014C=
c.2928C= (p.Leu976=)
c.*2171C= (n.*2171C=)
n.3197C=
c.2574C= (p.Leu858=)
c.3009C= (p.Leu1003=)
c.1812C= (p.Leu604=)
c.708C= (p.Leu236=)
21g.46366902C>GCA172987PCNTc.*1424C>G (n.*1424C>G)
n.3014C>G
c.2928C>G (p.Leu976=)
c.*2171C>G (n.*2171C>G)
n.3197C>G
c.2574C>G (p.Leu858=)
c.3009C>G (p.Leu1003=)
c.1812C>G (p.Leu604=)
c.708C>G (p.Leu236=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46366902C>TCA513173633PCNTc.*1424C>T (n.*1424C>T)
n.3014C>T
c.2928C>T (p.Leu976=)
c.*2171C>T (n.*2171C>T)
n.3197C>T
c.2574C>T (p.Leu858=)
c.3009C>T (p.Leu1003=)
c.1812C>T (p.Leu604=)
c.708C>T (p.Leu236=)
21g.46366903T>ACA410569640PCNTc.*1425T>A (n.*1425T>A)
n.3015T>A
c.2929T>A (p.Ser977Thr)
c.*2172T>A (n.*2172T>A)
n.3198T>A
c.2575T>A (p.Ser859Thr)
c.3010T>A (p.Ser1004Thr)
c.1813T>A (p.Ser605Thr)
c.709T>A (p.Ser237Thr)
21g.46366903T>CCA10079135PCNTc.*1425T>C (n.*1425T>C)
n.3015T>C
c.2929T>C (p.Ser977Pro)
c.*2172T>C (n.*2172T>C)
n.3198T>C
c.2575T>C (p.Ser859Pro)
c.3010T>C (p.Ser1004Pro)
c.1813T>C (p.Ser605Pro)
c.709T>C (p.Ser237Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46366903T>GCA10079134PCNTc.*1425T>G (n.*1425T>G)
n.3015T>G
c.2929T>G (p.Ser977Ala)
c.*2172T>G (n.*2172T>G)
n.3198T>G
c.2575T>G (p.Ser859Ala)
c.3010T>G (p.Ser1004Ala)
c.1813T>G (p.Ser605Ala)
c.709T>G (p.Ser237Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46366903T=CA2392640164PCNTc.*1425T= (n.*1425T=)
n.3015T=
c.2929T= (p.Ser977=)
c.*2172T= (n.*2172T=)
n.3198T=
c.2575T= (p.Ser859=)
c.3010T= (p.Ser1004=)
c.1813T= (p.Ser605=)
c.709T= (p.Ser237=)
21g.46366904C>ACA410569641PCNTc.*1426C>A (n.*1426C>A)
n.3016C>A
c.2930C>A (p.Ser977Tyr)
c.*2173C>A (n.*2173C>A)
n.3199C>A
c.2576C>A (p.Ser859Tyr)
c.3011C>A (p.Ser1004Tyr)
c.1814C>A (p.Ser605Tyr)
c.710C>A (p.Ser237Tyr)
21g.46366904C>GCA410569642PCNTc.*1426C>G (n.*1426C>G)
n.3016C>G
c.2930C>G (p.Ser977Cys)
c.*2173C>G (n.*2173C>G)
n.3199C>G
c.2576C>G (p.Ser859Cys)
c.3011C>G (p.Ser1004Cys)
c.1814C>G (p.Ser605Cys)
c.710C>G (p.Ser237Cys)
21g.46366904C>TCA410569643PCNTc.*1426C>T (n.*1426C>T)
n.3016C>T
c.2930C>T (p.Ser977Phe)
c.*2173C>T (n.*2173C>T)
n.3199C>T
c.2576C>T (p.Ser859Phe)
c.3011C>T (p.Ser1004Phe)
c.1814C>T (p.Ser605Phe)
c.710C>T (p.Ser237Phe)
21g.46366905T>ACA513173635PCNTc.*1427T>A (n.*1427T>A)
n.3017T>A
c.2931T>A (p.Ser977=)
c.*2174T>A (n.*2174T>A)
n.3200T>A
c.2577T>A (p.Ser859=)
c.3012T>A (p.Ser1004=)
c.1815T>A (p.Ser605=)
c.711T>A (p.Ser237=)
21g.46366905T>CCA513173636PCNTc.*1427T>C (n.*1427T>C)
n.3017T>C
c.2931T>C (p.Ser977=)
c.*2174T>C (n.*2174T>C)
n.3200T>C
c.2577T>C (p.Ser859=)
c.3012T>C (p.Ser1004=)
c.1815T>C (p.Ser605=)
c.711T>C (p.Ser237=)
21g.46366905T>GCA513173637PCNTc.*1427T>G (n.*1427T>G)
n.3017T>G
c.2931T>G (p.Ser977=)
c.*2174T>G (n.*2174T>G)
n.3200T>G
c.2577T>G (p.Ser859=)
c.3012T>G (p.Ser1004=)
c.1815T>G (p.Ser605=)
c.711T>G (p.Ser237=)
21g.46366906G>ACA410569644PCNTc.*1428G>A (n.*1428G>A)
n.3018G>A
c.2932G>A (p.Glu978Lys)
c.*2175G>A (n.*2175G>A)
n.3201G>A
c.2578G>A (p.Glu860Lys)
c.3013G>A (p.Glu1005Lys)
c.1816G>A (p.Glu606Lys)
c.712G>A (p.Glu238Lys)
21g.46366906G>CCA410569645PCNTc.*1428G>C (n.*1428G>C)
n.3018G>C
c.2932G>C (p.Glu978Gln)
c.*2175G>C (n.*2175G>C)
n.3201G>C
c.2578G>C (p.Glu860Gln)
c.3013G>C (p.Glu1005Gln)
c.1816G>C (p.Glu606Gln)
c.712G>C (p.Glu238Gln)
21g.46366906G>TCA410569646PCNTc.*1428G>T (n.*1428G>T)
n.3018G>T
c.2932G>T (p.Glu978Ter)
c.*2175G>T (n.*2175G>T)
n.3201G>T
c.2578G>T (p.Glu860Ter)
c.3013G>T (p.Glu1005Ter)
c.1816G>T (p.Glu606Ter)
c.712G>T (p.Glu238Ter)
21g.46366907A>CCA410569647PCNTc.*1429A>C (n.*1429A>C)
n.3019A>C
c.2933A>C (p.Glu978Ala)
c.*2176A>C (n.*2176A>C)
n.3202A>C
c.2579A>C (p.Glu860Ala)
c.3014A>C (p.Glu1005Ala)
c.1817A>C (p.Glu606Ala)
c.713A>C (p.Glu238Ala)
21g.46366907A>GCA410569648PCNTc.*1429A>G (n.*1429A>G)
n.3019A>G
c.2933A>G (p.Glu978Gly)
c.*2176A>G (n.*2176A>G)
n.3202A>G
c.2579A>G (p.Glu860Gly)
c.3014A>G (p.Glu1005Gly)
c.1817A>G (p.Glu606Gly)
c.713A>G (p.Glu238Gly)
 gnomAD v4
21g.46366907A>TCA410569649PCNTc.*1429A>T (n.*1429A>T)
n.3019A>T
c.2933A>T (p.Glu978Val)
c.*2176A>T (n.*2176A>T)
n.3202A>T
c.2579A>T (p.Glu860Val)
c.3014A>T (p.Glu1005Val)
c.1817A>T (p.Glu606Val)
c.713A>T (p.Glu238Val)
21g.46366908A=CA2392640165PCNTc.*1430A= (n.*1430A=)
n.3020A=
c.2934A= (p.Glu978=)
c.*2177A= (n.*2177A=)
n.3203A=
c.2580A= (p.Glu860=)
c.3015A= (p.Glu1005=)
c.1818A= (p.Glu606=)
c.714A= (p.Glu238=)
21g.46366908A>CCA410569650PCNTc.*1430A>C (n.*1430A>C)
n.3020A>C
c.2934A>C (p.Glu978Asp)
c.*2177A>C (n.*2177A>C)
n.3203A>C
c.2580A>C (p.Glu860Asp)
c.3015A>C (p.Glu1005Asp)
c.1818A>C (p.Glu606Asp)
c.714A>C (p.Glu238Asp)
21g.46366908A>GCA513173641PCNTc.*1430A>G (n.*1430A>G)
n.3020A>G
c.2934A>G (p.Glu978=)
c.*2177A>G (n.*2177A>G)
n.3203A>G
c.2580A>G (p.Glu860=)
c.3015A>G (p.Glu1005=)
c.1818A>G (p.Glu606=)
c.714A>G (p.Glu238=)
21g.46366908A>TCA10079136PCNTc.*1430A>T (n.*1430A>T)
n.3020A>T
c.2934A>T (p.Glu978Asp)
c.*2177A>T (n.*2177A>T)
n.3203A>T
c.2580A>T (p.Glu860Asp)
c.3015A>T (p.Glu1005Asp)
c.1818A>T (p.Glu606Asp)
c.714A>T (p.Glu238Asp)
 dbSNP ExAC gnomAD v3 gnomAD v4
21g.46366909T>ACA410569652PCNTc.*1431T>A (n.*1431T>A)
n.3021T>A
c.2935T>A (p.Phe979Ile)
c.*2178T>A (n.*2178T>A)
n.3204T>A
c.2581T>A (p.Phe861Ile)
c.3016T>A (p.Phe1006Ile)
c.1819T>A (p.Phe607Ile)
c.715T>A (p.Phe239Ile)
 gnomAD v4
21g.46366909T>CCA410569653PCNTc.*1431T>C (n.*1431T>C)
n.3021T>C
c.2935T>C (p.Phe979Leu)
c.*2178T>C (n.*2178T>C)
n.3204T>C
c.2581T>C (p.Phe861Leu)
c.3016T>C (p.Phe1006Leu)
c.1819T>C (p.Phe607Leu)
c.715T>C (p.Phe239Leu)
21g.46366909T>GCA410569651PCNTc.*1431T>G (n.*1431T>G)
n.3021T>G
c.2935T>G (p.Phe979Val)
c.*2178T>G (n.*2178T>G)
n.3204T>G
c.2581T>G (p.Phe861Val)
c.3016T>G (p.Phe1006Val)
c.1819T>G (p.Phe607Val)
c.715T>G (p.Phe239Val)
21g.46366910T>ACA410569655PCNTc.*1432T>A (n.*1432T>A)
n.3022T>A
c.2936T>A (p.Phe979Tyr)
c.*2179T>A (n.*2179T>A)
n.3205T>A
c.2582T>A (p.Phe861Tyr)
c.3017T>A (p.Phe1006Tyr)
c.1820T>A (p.Phe607Tyr)
c.716T>A (p.Phe239Tyr)
21g.46366910T>CCA410569654PCNTc.*1432T>C (n.*1432T>C)
n.3022T>C
c.2936T>C (p.Phe979Ser)
c.*2179T>C (n.*2179T>C)
n.3205T>C
c.2582T>C (p.Phe861Ser)
c.3017T>C (p.Phe1006Ser)
c.1820T>C (p.Phe607Ser)
c.716T>C (p.Phe239Ser)
21g.46366910T>GCA410569656PCNTc.*1432T>G (n.*1432T>G)
n.3022T>G
c.2936T>G (p.Phe979Cys)
c.*2179T>G (n.*2179T>G)
n.3205T>G
c.2582T>G (p.Phe861Cys)
c.3017T>G (p.Phe1006Cys)
c.1820T>G (p.Phe607Cys)
c.716T>G (p.Phe239Cys)
 dbSNP gnomAD v4
21g.46366910T=CA2392640166PCNTc.*1432T= (n.*1432T=)
n.3022T=
c.2936T= (p.Phe979=)
c.*2179T= (n.*2179T=)
n.3205T=
c.2582T= (p.Phe861=)
c.3017T= (p.Phe1006=)
c.1820T= (p.Phe607=)
c.716T= (p.Phe239=)
21g.46366911T>ACA410569657PCNTc.*1433T>A (n.*1433T>A)
n.3023T>A
c.2937T>A (p.Phe979Leu)
c.*2180T>A (n.*2180T>A)
n.3206T>A
c.2583T>A (p.Phe861Leu)
c.3018T>A (p.Phe1006Leu)
c.1821T>A (p.Phe607Leu)
c.717T>A (p.Phe239Leu)
21g.46366911T>CCA513173644PCNTc.*1433T>C (n.*1433T>C)
n.3023T>C
c.2937T>C (p.Phe979=)
c.*2180T>C (n.*2180T>C)
n.3206T>C
c.2583T>C (p.Phe861=)
c.3018T>C (p.Phe1006=)
c.1821T>C (p.Phe607=)
c.717T>C (p.Phe239=)
 gnomAD v4
21g.46366911T>GCA410569658PCNTc.*1433T>G (n.*1433T>G)
n.3023T>G
c.2937T>G (p.Phe979Leu)
c.*2180T>G (n.*2180T>G)
n.3206T>G
c.2583T>G (p.Phe861Leu)
c.3018T>G (p.Phe1006Leu)
c.1821T>G (p.Phe607Leu)
c.717T>G (p.Phe239Leu)
21g.46366912C>ACA410569659PCNTc.*1434C>A (n.*1434C>A)
n.3024C>A
c.2938C>A (p.Gln980Lys)
c.*2181C>A (n.*2181C>A)
n.3207C>A
c.2584C>A (p.Gln862Lys)
c.3019C>A (p.Gln1007Lys)
c.1822C>A (p.Gln608Lys)
c.718C>A (p.Gln240Lys)
21g.46366912C=CA2392640167PCNTc.*1434C= (n.*1434C=)
n.3024C=
c.2938C= (p.Gln980=)
c.*2181C= (n.*2181C=)
n.3207C=
c.2584C= (p.Gln862=)
c.3019C= (p.Gln1007=)
c.1822C= (p.Gln608=)
c.718C= (p.Gln240=)
21g.46366912C>GCA10079137PCNTc.*1434C>G (n.*1434C>G)
n.3024C>G
c.2938C>G (p.Gln980Glu)
c.*2181C>G (n.*2181C>G)
n.3207C>G
c.2584C>G (p.Gln862Glu)
c.3019C>G (p.Gln1007Glu)
c.1822C>G (p.Gln608Glu)
c.718C>G (p.Gln240Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46366912C>TCA410569660PCNTc.*1434C>T (n.*1434C>T)
n.3024C>T
c.2938C>T (p.Gln980Ter)
c.*2181C>T (n.*2181C>T)
n.3207C>T
c.2584C>T (p.Gln862Ter)
c.3019C>T (p.Gln1007Ter)
c.1822C>T (p.Gln608Ter)
c.718C>T (p.Gln240Ter)
 dbSNP gnomAD v3 gnomAD v4
21g.46366913A>CCA410569661PCNTc.*1435A>C (n.*1435A>C)
n.3025A>C
c.2939A>C (p.Gln980Pro)
c.*2182A>C (n.*2182A>C)
n.3208A>C
c.2585A>C (p.Gln862Pro)
c.3020A>C (p.Gln1007Pro)
c.1823A>C (p.Gln608Pro)
c.719A>C (p.Gln240Pro)
21g.46366913A>GCA410569662PCNTc.*1435A>G (n.*1435A>G)
n.3025A>G
c.2939A>G (p.Gln980Arg)
c.*2182A>G (n.*2182A>G)
n.3208A>G
c.2585A>G (p.Gln862Arg)
c.3020A>G (p.Gln1007Arg)
c.1823A>G (p.Gln608Arg)
c.719A>G (p.Gln240Arg)
 gnomAD v4
21g.46366913A>TCA410569663PCNTc.*1435A>T (n.*1435A>T)
n.3025A>T
c.2939A>T (p.Gln980Leu)
c.*2182A>T (n.*2182A>T)
n.3208A>T
c.2585A>T (p.Gln862Leu)
c.3020A>T (p.Gln1007Leu)
c.1823A>T (p.Gln608Leu)
c.719A>T (p.Gln240Leu)
21g.46366914G>ACA513173648PCNTc.*1436G>A (n.*1436G>A)
n.3026G>A
c.2940G>A (p.Gln980=)
c.*2183G>A (n.*2183G>A)
n.3209G>A
c.2586G>A (p.Gln862=)
c.3021G>A (p.Gln1007=)
c.1824G>A (p.Gln608=)
c.720G>A (p.Gln240=)
21g.46366914G>CCA410569664PCNTc.*1436G>C (n.*1436G>C)
n.3026G>C
c.2940G>C (p.Gln980His)
c.*2183G>C (n.*2183G>C)
n.3209G>C
c.2586G>C (p.Gln862His)
c.3021G>C (p.Gln1007His)
c.1824G>C (p.Gln608His)
c.720G>C (p.Gln240His)
21g.46366914G=CA2392640168PCNTc.*1436G= (n.*1436G=)
n.3026G=
c.2940G= (p.Gln980=)
c.*2183G= (n.*2183G=)
n.3209G=
c.2586G= (p.Gln862=)
c.3021G= (p.Gln1007=)
c.1824G= (p.Gln608=)
c.720G= (p.Gln240=)
21g.46366914G>TCA410569665PCNTc.*1436G>T (n.*1436G>T)
n.3026G>T
c.2940G>T (p.Gln980His)
c.*2183G>T (n.*2183G>T)
n.3209G>T
c.2586G>T (p.Gln862His)
c.3021G>T (p.Gln1007His)
c.1824G>T (p.Gln608His)
c.720G>T (p.Gln240His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46366915A=CA2392640169PCNTc.*1437A= (n.*1437A=)
n.3027A=
c.2941A= (p.Thr981=)
c.*2184A= (n.*2184A=)
n.3210A=
c.2587A= (p.Thr863=)
c.3022A= (p.Thr1008=)
c.1825A= (p.Thr609=)
c.721A= (p.Thr241=)
21g.46366915A>CCA410569666PCNTc.*1437A>C (n.*1437A>C)
n.3027A>C
c.2941A>C (p.Thr981Pro)
c.*2184A>C (n.*2184A>C)
n.3210A>C
c.2587A>C (p.Thr863Pro)
c.3022A>C (p.Thr1008Pro)
c.1825A>C (p.Thr609Pro)
c.721A>C (p.Thr241Pro)
21g.46366915A>GCA410569667PCNTc.*1437A>G (n.*1437A>G)
n.3027A>G
c.2941A>G (p.Thr981Ala)
c.*2184A>G (n.*2184A>G)
n.3210A>G
c.2587A>G (p.Thr863Ala)
c.3022A>G (p.Thr1008Ala)
c.1825A>G (p.Thr609Ala)
c.721A>G (p.Thr241Ala)
 dbSNP
21g.46366915A>TCA410569668PCNTc.*1437A>T (n.*1437A>T)
n.3027A>T
c.2941A>T (p.Thr981Ser)
c.*2184A>T (n.*2184A>T)
n.3210A>T
c.2587A>T (p.Thr863Ser)
c.3022A>T (p.Thr1008Ser)
c.1825A>T (p.Thr609Ser)
c.721A>T (p.Thr241Ser)
21g.46366916C>ACA410569669PCNTc.*1438C>A (n.*1438C>A)
n.3028C>A
c.2942C>A (p.Thr981Asn)
c.*2185C>A (n.*2185C>A)
n.3211C>A
c.2588C>A (p.Thr863Asn)
c.3023C>A (p.Thr1008Asn)
c.1826C>A (p.Thr609Asn)
c.722C>A (p.Thr241Asn)
21g.46366916C=CA2392640170PCNTc.*1438C= (n.*1438C=)
n.3028C=
c.2942C= (p.Thr981=)
c.*2185C= (n.*2185C=)
n.3211C=
c.2588C= (p.Thr863=)
c.3023C= (p.Thr1008=)
c.1826C= (p.Thr609=)
c.722C= (p.Thr241=)
21g.46366916C>GCA410569671PCNTc.*1438C>G (n.*1438C>G)
n.3028C>G
c.2942C>G (p.Thr981Ser)
c.*2185C>G (n.*2185C>G)
n.3211C>G
c.2588C>G (p.Thr863Ser)
c.3023C>G (p.Thr1008Ser)
c.1826C>G (p.Thr609Ser)
c.722C>G (p.Thr241Ser)
 dbSNP gnomAD v4
21g.46366916C>TCA410569670PCNTc.*1438C>T (n.*1438C>T)
n.3028C>T
c.2942C>T (p.Thr981Ile)
c.*2185C>T (n.*2185C>T)
n.3211C>T
c.2588C>T (p.Thr863Ile)
c.3023C>T (p.Thr1008Ile)
c.1826C>T (p.Thr609Ile)
c.722C>T (p.Thr241Ile)
21g.46366917C>ACA513173655PCNTc.*1439C>A (n.*1439C>A)
n.3029C>A
c.2943C>A (p.Thr981=)
c.*2186C>A (n.*2186C>A)
n.3212C>A
c.2589C>A (p.Thr863=)
c.3024C>A (p.Thr1008=)
c.1827C>A (p.Thr609=)
c.723C>A (p.Thr241=)
21g.46366917C=CA2392640171PCNTc.*1439C= (n.*1439C=)
n.3029C=
c.2943C= (p.Thr981=)
c.*2186C= (n.*2186C=)
n.3212C=
c.2589C= (p.Thr863=)
c.3024C= (p.Thr1008=)
c.1827C= (p.Thr609=)
c.723C= (p.Thr241=)
21g.46366917C>GCA513173656PCNTc.*1439C>G (n.*1439C>G)
n.3029C>G
c.2943C>G (p.Thr981=)
c.*2186C>G (n.*2186C>G)
n.3212C>G
c.2589C>G (p.Thr863=)
c.3024C>G (p.Thr1008=)
c.1827C>G (p.Thr609=)
c.723C>G (p.Thr241=)
21g.46366917C>TCA513173657PCNTc.*1439C>T (n.*1439C>T)
n.3029C>T
c.2943C>T (p.Thr981=)
c.*2186C>T (n.*2186C>T)
n.3212C>T
c.2589C>T (p.Thr863=)
c.3024C>T (p.Thr1008=)
c.1827C>T (p.Thr609=)
c.723C>T (p.Thr241=)
 dbSNP
21g.46366918A=CA2392640172PCNTc.*1440A= (n.*1440A=)
n.3030A=
c.2944A= (p.Ile982=)
c.*2187A= (n.*2187A=)
n.3213A=
c.2590A= (p.Ile864=)
c.3025A= (p.Ile1009=)
c.1828A= (p.Ile610=)
c.724A= (p.Ile242=)
21g.46366918A>CCA410569672PCNTc.*1440A>C (n.*1440A>C)
n.3030A>C
c.2944A>C (p.Ile982Leu)
c.*2187A>C (n.*2187A>C)
n.3213A>C
c.2590A>C (p.Ile864Leu)
c.3025A>C (p.Ile1009Leu)
c.1828A>C (p.Ile610Leu)
c.724A>C (p.Ile242Leu)
 dbSNP gnomAD v2
21g.46366918A>GCA410569673PCNTc.*1440A>G (n.*1440A>G)
n.3030A>G
c.2944A>G (p.Ile982Val)
c.*2187A>G (n.*2187A>G)
n.3213A>G
c.2590A>G (p.Ile864Val)
c.3025A>G (p.Ile1009Val)
c.1828A>G (p.Ile610Val)
c.724A>G (p.Ile242Val)
 dbSNP
21g.46366918A>TCA410569674PCNTc.*1440A>T (n.*1440A>T)
n.3030A>T
c.2944A>T (p.Ile982Phe)
c.*2187A>T (n.*2187A>T)
n.3213A>T
c.2590A>T (p.Ile864Phe)
c.3025A>T (p.Ile1009Phe)
c.1828A>T (p.Ile610Phe)
c.724A>T (p.Ile242Phe)
21g.46366919T>ACA410569675PCNTc.*1441T>A (n.*1441T>A)
n.3031T>A
c.2945T>A (p.Ile982Asn)
c.*2188T>A (n.*2188T>A)
n.3214T>A
c.2591T>A (p.Ile864Asn)
c.3026T>A (p.Ile1009Asn)
c.1829T>A (p.Ile610Asn)
c.725T>A (p.Ile242Asn)
21g.46366919T>CCA10079138PCNTc.*1441T>C (n.*1441T>C)
n.3031T>C
c.2945T>C (p.Ile982Thr)
c.*2188T>C (n.*2188T>C)
n.3214T>C
c.2591T>C (p.Ile864Thr)
c.3026T>C (p.Ile1009Thr)
c.1829T>C (p.Ile610Thr)
c.725T>C (p.Ile242Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46366919T>GCA410569676PCNTc.*1441T>G (n.*1441T>G)
n.3031T>G
c.2945T>G (p.Ile982Ser)
c.*2188T>G (n.*2188T>G)
n.3214T>G
c.2591T>G (p.Ile864Ser)
c.3026T>G (p.Ile1009Ser)
c.1829T>G (p.Ile610Ser)
c.725T>G (p.Ile242Ser)
21g.46366919T=CA2392640173PCNTc.*1441T= (n.*1441T=)
n.3031T=
c.2945T= (p.Ile982=)
c.*2188T= (n.*2188T=)
n.3214T=
c.2591T= (p.Ile864=)
c.3026T= (p.Ile1009=)
c.1829T= (p.Ile610=)
c.725T= (p.Ile242=)
21g.46366920C>ACA513173659PCNTc.*1442C>A (n.*1442C>A)
n.3032C>A
c.2946C>A (p.Ile982=)
c.*2189C>A (n.*2189C>A)
n.3215C>A
c.2592C>A (p.Ile864=)
c.3027C>A (p.Ile1009=)
c.1830C>A (p.Ile610=)
c.726C>A (p.Ile242=)
21g.46366920C>GCA410569677PCNTc.*1442C>G (n.*1442C>G)
n.3032C>G
c.2946C>G (p.Ile982Met)
c.*2189C>G (n.*2189C>G)
n.3215C>G
c.2592C>G (p.Ile864Met)
c.3027C>G (p.Ile1009Met)
c.1830C>G (p.Ile610Met)
c.726C>G (p.Ile242Met)
21g.46366920C>TCA513173660PCNTc.*1442C>T (n.*1442C>T)
n.3032C>T
c.2946C>T (p.Ile982=)
c.*2189C>T (n.*2189C>T)
n.3215C>T
c.2592C>T (p.Ile864=)
c.3027C>T (p.Ile1009=)
c.1830C>T (p.Ile610=)
c.726C>T (p.Ile242=)
21g.46366921C>ACA410569678PCNTc.*1443C>A (n.*1443C>A)
n.3033C>A
c.2947C>A (p.Arg983Ser)
c.*2190C>A (n.*2190C>A)
n.3216C>A
c.2593C>A (p.Arg865Ser)
c.3028C>A (p.Arg1010Ser)
c.1831C>A (p.Arg611Ser)
c.727C>A (p.Arg243Ser)
21g.46366921C=CA2392640174PCNTc.*1443C= (n.*1443C=)
n.3033C=
c.2947C= (p.Arg983=)
c.*2190C= (n.*2190C=)
n.3216C=
c.2593C= (p.Arg865=)
c.3028C= (p.Arg1010=)
c.1831C= (p.Arg611=)
c.727C= (p.Arg243=)
21g.46366921C>GCA410569679PCNTc.*1443C>G (n.*1443C>G)
n.3033C>G
c.2947C>G (p.Arg983Gly)
c.*2190C>G (n.*2190C>G)
n.3216C>G
c.2593C>G (p.Arg865Gly)
c.3028C>G (p.Arg1010Gly)
c.1831C>G (p.Arg611Gly)
c.727C>G (p.Arg243Gly)
21g.46366921C>TCA10079139PCNTc.*1443C>T (n.*1443C>T)
n.3033C>T
c.2947C>T (p.Arg983Cys)
c.*2190C>T (n.*2190C>T)
n.3216C>T
c.2593C>T (p.Arg865Cys)
c.3028C>T (p.Arg1010Cys)
c.1831C>T (p.Arg611Cys)
c.727C>T (p.Arg243Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46366922G>ACA410569681PCNTc.*1444G>A (n.*1444G>A)
n.3034G>A
c.2948G>A (p.Arg983His)
c.*2191G>A (n.*2191G>A)
n.3217G>A
c.2594G>A (p.Arg865His)
c.3029G>A (p.Arg1010His)
c.1832G>A (p.Arg611His)
c.728G>A (p.Arg243His)
 dbSNP gnomAD v2 gnomAD v4
21g.46366922G>CCA410569682PCNTc.*1444G>C (n.*1444G>C)
n.3034G>C
c.2948G>C (p.Arg983Pro)
c.*2191G>C (n.*2191G>C)
n.3217G>C
c.2594G>C (p.Arg865Pro)
c.3029G>C (p.Arg1010Pro)
c.1832G>C (p.Arg611Pro)
c.728G>C (p.Arg243Pro)
21g.46366922G=CA2392640175PCNTc.*1444G= (n.*1444G=)
n.3034G=
c.2948G= (p.Arg983=)
c.*2191G= (n.*2191G=)
n.3217G=
c.2594G= (p.Arg865=)
c.3029G= (p.Arg1010=)
c.1832G= (p.Arg611=)
c.728G= (p.Arg243=)
21g.46366922G>TCA410569680PCNTc.*1444G>T (n.*1444G>T)
n.3034G>T
c.2948G>T (p.Arg983Leu)
c.*2191G>T (n.*2191G>T)
n.3217G>T
c.2594G>T (p.Arg865Leu)
c.3029G>T (p.Arg1010Leu)
c.1832G>T (p.Arg611Leu)
c.728G>T (p.Arg243Leu)
21g.46366923T>ACA513173664PCNTc.*1445T>A (n.*1445T>A)
n.3035T>A
c.2949T>A (p.Arg983=)
c.*2192T>A (n.*2192T>A)
n.3218T>A
c.2595T>A (p.Arg865=)
c.3030T>A (p.Arg1010=)
c.1833T>A (p.Arg611=)
c.729T>A (p.Arg243=)
21g.46366923T>CCA322005822PCNTc.*1445T>C (n.*1445T>C)
n.3035T>C
c.2949T>C (p.Arg983=)
c.*2192T>C (n.*2192T>C)
n.3218T>C
c.2595T>C (p.Arg865=)
c.3030T>C (p.Arg1010=)
c.1833T>C (p.Arg611=)
c.729T>C (p.Arg243=)
 dbSNP
21g.46366923T>GCA513173665PCNTc.*1445T>G (n.*1445T>G)
n.3035T>G
c.2949T>G (p.Arg983=)
c.*2192T>G (n.*2192T>G)
n.3218T>G
c.2595T>G (p.Arg865=)
c.3030T>G (p.Arg1010=)
c.1833T>G (p.Arg611=)
c.729T>G (p.Arg243=)
21g.46366923T=CA2392640176PCNTc.*1445T= (n.*1445T=)
n.3035T=
c.2949T= (p.Arg983=)
c.*2192T= (n.*2192T=)
n.3218T=
c.2595T= (p.Arg865=)
c.3030T= (p.Arg1010=)
c.1833T= (p.Arg611=)
c.729T= (p.Arg243=)
21g.46366924G>ACA410569683PCNTc.*1446G>A (n.*1446G>A)
n.3036G>A
c.2950G>A (p.Glu984Lys)
c.*2193G>A (n.*2193G>A)
n.3219G>A
c.2596G>A (p.Glu866Lys)
c.3031G>A (p.Glu1011Lys)
c.1834G>A (p.Glu612Lys)
c.730G>A (p.Glu244Lys)
 COSMIC
21g.46366924G>CCA410569684PCNTc.*1446G>C (n.*1446G>C)
n.3036G>C
c.2950G>C (p.Glu984Gln)
c.*2193G>C (n.*2193G>C)
n.3219G>C
c.2596G>C (p.Glu866Gln)
c.3031G>C (p.Glu1011Gln)
c.1834G>C (p.Glu612Gln)
c.730G>C (p.Glu244Gln)
21g.46366924G>TCA410569685PCNTc.*1446G>T (n.*1446G>T)
n.3036G>T
c.2950G>T (p.Glu984Ter)
c.*2193G>T (n.*2193G>T)
n.3219G>T
c.2596G>T (p.Glu866Ter)
c.3031G>T (p.Glu1011Ter)
c.1834G>T (p.Glu612Ter)
c.730G>T (p.Glu244Ter)
 ClinVar
21g.46366925A>CCA410569686PCNTc.*1447A>C (n.*1447A>C)
n.3037A>C
c.2951A>C (p.Glu984Ala)
c.*2194A>C (n.*2194A>C)
n.3220A>C
c.2597A>C (p.Glu866Ala)
c.3032A>C (p.Glu1011Ala)
c.1835A>C (p.Glu612Ala)
c.731A>C (p.Glu244Ala)
21g.46366925A>GCA410569687PCNTc.*1447A>G (n.*1447A>G)
n.3037A>G
c.2951A>G (p.Glu984Gly)
c.*2194A>G (n.*2194A>G)
n.3220A>G
c.2597A>G (p.Glu866Gly)
c.3032A>G (p.Glu1011Gly)
c.1835A>G (p.Glu612Gly)
c.731A>G (p.Glu244Gly)
21g.46366925A>TCA410569688PCNTc.*1447A>T (n.*1447A>T)
n.3037A>T
c.2951A>T (p.Glu984Val)
c.*2194A>T (n.*2194A>T)
n.3220A>T
c.2597A>T (p.Glu866Val)
c.3032A>T (p.Glu1011Val)
c.1835A>T (p.Glu612Val)
c.731A>T (p.Glu244Val)
21g.46366926G>ACA513173669PCNTc.*1448G>A (n.*1448G>A)
n.3038G>A
c.2952G>A (p.Glu984=)
c.*2195G>A (n.*2195G>A)
n.3221G>A
c.2598G>A (p.Glu866=)
c.3033G>A (p.Glu1011=)
c.1836G>A (p.Glu612=)
c.732G>A (p.Glu244=)
21g.46366926G>CCA410569689PCNTc.*1448G>C (n.*1448G>C)
n.3038G>C
c.2952G>C (p.Glu984Asp)
c.*2195G>C (n.*2195G>C)
n.3221G>C
c.2598G>C (p.Glu866Asp)
c.3033G>C (p.Glu1011Asp)
c.1836G>C (p.Glu612Asp)
c.732G>C (p.Glu244Asp)
21g.46366926G>TCA410569690PCNTc.*1448G>T (n.*1448G>T)
n.3038G>T
c.2952G>T (p.Glu984Asp)
c.*2195G>T (n.*2195G>T)
n.3221G>T
c.2598G>T (p.Glu866Asp)
c.3033G>T (p.Glu1011Asp)
c.1836G>T (p.Glu612Asp)
c.732G>T (p.Glu244Asp)
21g.46366927G>ACA410569691PCNTc.*1449G>A (n.*1449G>A)
n.3039G>A
c.2953G>A (p.Glu985Lys)
c.*2196G>A (n.*2196G>A)
n.3222G>A
c.2599G>A (p.Glu867Lys)
c.3034G>A (p.Glu1012Lys)
c.1837G>A (p.Glu613Lys)
c.733G>A (p.Glu245Lys)
 dbSNP
21g.46366927G>CCA410569692PCNTc.*1449G>C (n.*1449G>C)
n.3039G>C
c.2953G>C (p.Glu985Gln)
c.*2196G>C (n.*2196G>C)
n.3222G>C
c.2599G>C (p.Glu867Gln)
c.3034G>C (p.Glu1012Gln)
c.1837G>C (p.Glu613Gln)
c.733G>C (p.Glu245Gln)
21g.46366927G>TCA410569693PCNTc.*1449G>T (n.*1449G>T)
n.3039G>T
c.2953G>T (p.Glu985Ter)
c.*2196G>T (n.*2196G>T)
n.3222G>T
c.2599G>T (p.Glu867Ter)
c.3034G>T (p.Glu1012Ter)
c.1837G>T (p.Glu613Ter)
c.733G>T (p.Glu245Ter)
21g.46366928A>CCA410569694PCNTc.*1450A>C (n.*1450A>C)
n.3040A>C
c.2954A>C (p.Glu985Ala)
c.*2197A>C (n.*2197A>C)
n.3223A>C
c.2600A>C (p.Glu867Ala)
c.3035A>C (p.Glu1012Ala)
c.1838A>C (p.Glu613Ala)
c.734A>C (p.Glu245Ala)
21g.46366928A>GCA410569695PCNTc.*1450A>G (n.*1450A>G)
n.3040A>G
c.2954A>G (p.Glu985Gly)
c.*2197A>G (n.*2197A>G)
n.3223A>G
c.2600A>G (p.Glu867Gly)
c.3035A>G (p.Glu1012Gly)
c.1838A>G (p.Glu613Gly)
c.734A>G (p.Glu245Gly)
21g.46366928A>TCA410569696PCNTc.*1450A>T (n.*1450A>T)
n.3040A>T
c.2954A>T (p.Glu985Val)
c.*2197A>T (n.*2197A>T)
n.3223A>T
c.2600A>T (p.Glu867Val)
c.3035A>T (p.Glu1012Val)
c.1838A>T (p.Glu613Val)
c.734A>T (p.Glu245Val)
21g.46366929G>ACA513173671PCNTc.*1451G>A (n.*1451G>A)
n.3041G>A
c.2955G>A (p.Glu985=)
c.*2198G>A (n.*2198G>A)
n.3224G>A
c.2601G>A (p.Glu867=)
c.3036G>A (p.Glu1012=)
c.1839G>A (p.Glu613=)
c.735G>A (p.Glu245=)
 dbSNP gnomAD v2
21g.46366929G>CCA410569697PCNTc.*1451G>C (n.*1451G>C)
n.3041G>C
c.2955G>C (p.Glu985Asp)
c.*2198G>C (n.*2198G>C)
n.3224G>C
c.2601G>C (p.Glu867Asp)
c.3036G>C (p.Glu1012Asp)
c.1839G>C (p.Glu613Asp)
c.735G>C (p.Glu245Asp)
21g.46366929G=CA2392640177PCNTc.*1451G= (n.*1451G=)
n.3041G=
c.2955G= (p.Glu985=)
c.*2198G= (n.*2198G=)
n.3224G=
c.2601G= (p.Glu867=)
c.3036G= (p.Glu1012=)
c.1839G= (p.Glu613=)
c.735G= (p.Glu245=)
21g.46366929G>TCA410569698PCNTc.*1451G>T (n.*1451G>T)
n.3041G>T
c.2955G>T (p.Glu985Asp)
c.*2198G>T (n.*2198G>T)
n.3224G>T
c.2601G>T (p.Glu867Asp)
c.3036G>T (p.Glu1012Asp)
c.1839G>T (p.Glu613Asp)
c.735G>T (p.Glu245Asp)
21g.46366930C>ACA410569699PCNTc.*1452C>A (n.*1452C>A)
n.3042C>A
c.2956C>A (p.His986Asn)
c.*2199C>A (n.*2199C>A)
n.3225C>A
c.2602C>A (p.His868Asn)
c.3037C>A (p.His1013Asn)
c.1840C>A (p.His614Asn)
c.736C>A (p.His246Asn)
21g.46366930C=CA2392640178PCNTc.*1452C= (n.*1452C=)
n.3042C=
c.2956C= (p.His986=)
c.*2199C= (n.*2199C=)
n.3225C=
c.2602C= (p.His868=)
c.3037C= (p.His1013=)
c.1840C= (p.His614=)
c.736C= (p.His246=)
21g.46366930C>GCA322005827PCNTc.*1452C>G (n.*1452C>G)
n.3042C>G
c.2956C>G (p.His986Asp)
c.*2199C>G (n.*2199C>G)
n.3225C>G
c.2602C>G (p.His868Asp)
c.3037C>G (p.His1013Asp)
c.1840C>G (p.His614Asp)
c.736C>G (p.His246Asp)
 dbSNP
21g.46366930C>TCA410569700PCNTc.*1452C>T (n.*1452C>T)
n.3042C>T
c.2956C>T (p.His986Tyr)
c.*2199C>T (n.*2199C>T)
n.3225C>T
c.2602C>T (p.His868Tyr)
c.3037C>T (p.His1013Tyr)
c.1840C>T (p.His614Tyr)
c.736C>T (p.His246Tyr)
21g.46366931A>CCA410569701PCNTc.*1453A>C (n.*1453A>C)
n.3043A>C
c.2957A>C (p.His986Pro)
c.*2200A>C (n.*2200A>C)
n.3226A>C
c.2603A>C (p.His868Pro)
c.3038A>C (p.His1013Pro)
c.1841A>C (p.His614Pro)
c.737A>C (p.His246Pro)
21g.46366931A>GCA410569702PCNTc.*1453A>G (n.*1453A>G)
n.3043A>G
c.2957A>G (p.His986Arg)
c.*2200A>G (n.*2200A>G)
n.3226A>G
c.2603A>G (p.His868Arg)
c.3038A>G (p.His1013Arg)
c.1841A>G (p.His614Arg)
c.737A>G (p.His246Arg)
 gnomAD v4
21g.46366931A>TCA410569703PCNTc.*1453A>T (n.*1453A>T)
n.3043A>T
c.2957A>T (p.His986Leu)
c.*2200A>T (n.*2200A>T)
n.3226A>T
c.2603A>T (p.His868Leu)
c.3038A>T (p.His1013Leu)
c.1841A>T (p.His614Leu)
c.737A>T (p.His246Leu)
21g.46366932C>ACA410569704PCNTc.*1454C>A (n.*1454C>A)
n.3044C>A
c.2958C>A (p.His986Gln)
c.*2201C>A (n.*2201C>A)
n.3227C>A
c.2604C>A (p.His868Gln)
c.3039C>A (p.His1013Gln)
c.1842C>A (p.His614Gln)
c.738C>A (p.His246Gln)
21g.46366932C>GCA410569705PCNTc.*1454C>G (n.*1454C>G)
n.3044C>G
c.2958C>G (p.His986Gln)
c.*2201C>G (n.*2201C>G)
n.3227C>G
c.2604C>G (p.His868Gln)
c.3039C>G (p.His1013Gln)
c.1842C>G (p.His614Gln)
c.738C>G (p.His246Gln)
 gnomAD v4
21g.46366932C>TCA513173673PCNTc.*1454C>T (n.*1454C>T)
n.3044C>T
c.2958C>T (p.His986=)
c.*2201C>T (n.*2201C>T)
n.3227C>T
c.2604C>T (p.His868=)
c.3039C>T (p.His1013=)
c.1842C>T (p.His614=)
c.738C>T (p.His246=)
21g.46366933A=CA2392640179PCNTc.*1455A= (n.*1455A=)
n.3045A=
c.2959A= (p.Arg987=)
c.*2202A= (n.*2202A=)
n.3228A=
c.2605A= (p.Arg869=)
c.3040A= (p.Arg1014=)
c.1843A= (p.Arg615=)
c.739A= (p.Arg247=)
21g.46366933A>CCA322005832PCNTc.*1455A>C (n.*1455A>C)
n.3045A>C
c.2959A>C (p.Arg987=)
c.*2202A>C (n.*2202A>C)
n.3228A>C
c.2605A>C (p.Arg869=)
c.3040A>C (p.Arg1014=)
c.1843A>C (p.Arg615=)
c.739A>C (p.Arg247=)
 dbSNP gnomAD v4
21g.46366933A>GCA410569706PCNTc.*1455A>G (n.*1455A>G)
n.3045A>G
c.2959A>G (p.Arg987Gly)
c.*2202A>G (n.*2202A>G)
n.3228A>G
c.2605A>G (p.Arg869Gly)
c.3040A>G (p.Arg1014Gly)
c.1843A>G (p.Arg615Gly)
c.739A>G (p.Arg247Gly)
21g.46366933A>TCA410569707PCNTc.*1455A>T (n.*1455A>T)
n.3045A>T
c.2959A>T (p.Arg987Trp)
c.*2202A>T (n.*2202A>T)
n.3228A>T
c.2605A>T (p.Arg869Trp)
c.3040A>T (p.Arg1014Trp)
c.1843A>T (p.Arg615Trp)
c.739A>T (p.Arg247Trp)
21g.46366934G>ACA410569708PCNTc.*1456G>A (n.*1456G>A)
n.3046G>A
c.2960G>A (p.Arg987Lys)
c.*2203G>A (n.*2203G>A)
n.3229G>A
c.2606G>A (p.Arg869Lys)
c.3041G>A (p.Arg1014Lys)
c.1844G>A (p.Arg615Lys)
c.740G>A (p.Arg247Lys)
21g.46366934G>CCA410569709PCNTc.*1456G>C (n.*1456G>C)
n.3046G>C
c.2960G>C (p.Arg987Thr)
c.*2203G>C (n.*2203G>C)
n.3229G>C
c.2606G>C (p.Arg869Thr)
c.3041G>C (p.Arg1014Thr)
c.1844G>C (p.Arg615Thr)
c.740G>C (p.Arg247Thr)
21g.46366934G>TCA410569710PCNTc.*1456G>T (n.*1456G>T)
n.3046G>T
c.2960G>T (p.Arg987Met)
c.*2203G>T (n.*2203G>T)
n.3229G>T
c.2606G>T (p.Arg869Met)
c.3041G>T (p.Arg1014Met)
c.1844G>T (p.Arg615Met)
c.740G>T (p.Arg247Met)
21g.46366935G>ACA513173677PCNTc.*1457G>A (n.*1457G>A)
n.3047G>A
c.2961G>A (p.Arg987=)
c.*2204G>A (n.*2204G>A)
n.3230G>A
c.2607G>A (p.Arg869=)
c.3042G>A (p.Arg1014=)
c.1845G>A (p.Arg615=)
c.741G>A (p.Arg247=)
21g.46366935G>CCA410569711PCNTc.*1457G>C (n.*1457G>C)
n.3047G>C
c.2961G>C (p.Arg987Ser)
c.*2204G>C (n.*2204G>C)
n.3230G>C
c.2607G>C (p.Arg869Ser)
c.3042G>C (p.Arg1014Ser)
c.1845G>C (p.Arg615Ser)
c.741G>C (p.Arg247Ser)
21g.46366935G>TCA410569712PCNTc.*1457G>T (n.*1457G>T)
n.3047G>T
c.2961G>T (p.Arg987Ser)
c.*2204G>T (n.*2204G>T)
n.3230G>T
c.2607G>T (p.Arg869Ser)
c.3042G>T (p.Arg1014Ser)
c.1845G>T (p.Arg615Ser)
c.741G>T (p.Arg247Ser)
21g.46366936C>ACA410569713PCNTc.*1458C>A (n.*1458C>A)
n.3048C>A
c.2962C>A (p.Gln988Lys)
c.*2205C>A (n.*2205C>A)
n.3231C>A
c.2608C>A (p.Gln870Lys)
c.3043C>A (p.Gln1015Lys)
c.1846C>A (p.Gln616Lys)
c.742C>A (p.Gln248Lys)
21g.46366936C=CA2392640180PCNTc.*1458C= (n.*1458C=)
n.3048C=
c.2962C= (p.Gln988=)
c.*2205C= (n.*2205C=)
n.3231C=
c.2608C= (p.Gln870=)
c.3043C= (p.Gln1015=)
c.1846C= (p.Gln616=)
c.742C= (p.Gln248=)
21g.46366936C>GCA410569715PCNTc.*1458C>G (n.*1458C>G)
n.3048C>G
c.2962C>G (p.Gln988Glu)
c.*2205C>G (n.*2205C>G)
n.3231C>G
c.2608C>G (p.Gln870Glu)
c.3043C>G (p.Gln1015Glu)
c.1846C>G (p.Gln616Glu)
c.742C>G (p.Gln248Glu)
 dbSNP
21g.46366936C>TCA410569714PCNTc.*1458C>T (n.*1458C>T)
n.3048C>T
c.2962C>T (p.Gln988Ter)
c.*2205C>T (n.*2205C>T)
n.3231C>T
c.2608C>T (p.Gln870Ter)
c.3043C>T (p.Gln1015Ter)
c.1846C>T (p.Gln616Ter)
c.742C>T (p.Gln248Ter)
21g.46366937A=CA2392640181PCNTc.*1459A= (n.*1459A=)
n.3049A=
c.2963A= (p.Gln988=)
c.*2206A= (n.*2206A=)
n.3232A=
c.2609A= (p.Gln870=)
c.3044A= (p.Gln1015=)
c.1847A= (p.Gln616=)
c.743A= (p.Gln248=)
21g.46366937A>CCA410569716PCNTc.*1459A>C (n.*1459A>C)
n.3049A>C
c.2963A>C (p.Gln988Pro)
c.*2206A>C (n.*2206A>C)
n.3232A>C
c.2609A>C (p.Gln870Pro)
c.3044A>C (p.Gln1015Pro)
c.1847A>C (p.Gln616Pro)
c.743A>C (p.Gln248Pro)
21g.46366937A>GCA410569717PCNTc.*1459A>G (n.*1459A>G)
n.3049A>G
c.2963A>G (p.Gln988Arg)
c.*2206A>G (n.*2206A>G)
n.3232A>G
c.2609A>G (p.Gln870Arg)
c.3044A>G (p.Gln1015Arg)
c.1847A>G (p.Gln616Arg)
c.743A>G (p.Gln248Arg)
 dbSNP gnomAD v4
21g.46366937A>TCA410569718PCNTc.*1459A>T (n.*1459A>T)
n.3049A>T
c.2963A>T (p.Gln988Leu)
c.*2206A>T (n.*2206A>T)
n.3232A>T
c.2609A>T (p.Gln870Leu)
c.3044A>T (p.Gln1015Leu)
c.1847A>T (p.Gln616Leu)
c.743A>T (p.Gln248Leu)
 COSMIC
21g.46366938G>ACA513173682PCNTc.*1460G>A (n.*1460G>A)
n.3050G>A
c.2964G>A (p.Gln988=)
c.*2207G>A (n.*2207G>A)
n.3233G>A
c.2610G>A (p.Gln870=)
c.3045G>A (p.Gln1015=)
c.1848G>A (p.Gln616=)
c.744G>A (p.Gln248=)
21g.46366938G>CCA410569719PCNTc.*1460G>C (n.*1460G>C)
n.3050G>C
c.2964G>C (p.Gln988His)
c.*2207G>C (n.*2207G>C)
n.3233G>C
c.2610G>C (p.Gln870His)
c.3045G>C (p.Gln1015His)
c.1848G>C (p.Gln616His)
c.744G>C (p.Gln248His)
21g.46366938G=CA2392640182PCNTc.*1460G= (n.*1460G=)
n.3050G=
c.2964G= (p.Gln988=)
c.*2207G= (n.*2207G=)
n.3233G=
c.2610G= (p.Gln870=)
c.3045G= (p.Gln1015=)
c.1848G= (p.Gln616=)
c.744G= (p.Gln248=)
21g.46366938G>TCA322005844PCNTc.*1460G>T (n.*1460G>T)
n.3050G>T
c.2964G>T (p.Gln988His)
c.*2207G>T (n.*2207G>T)
n.3233G>T
c.2610G>T (p.Gln870His)
c.3045G>T (p.Gln1015His)
c.1848G>T (p.Gln616His)
c.744G>T (p.Gln248His)
 ClinVar dbSNP gnomAD v4
21g.46366939G>ACA410569720PCNTc.*1461G>A (n.*1461G>A)
n.3051G>A
c.2965G>A (p.Ala989Thr)
c.*2208G>A (n.*2208G>A)
n.3234G>A
c.2611G>A (p.Ala871Thr)
c.3046G>A (p.Ala1016Thr)
c.1849G>A (p.Ala617Thr)
c.745G>A (p.Ala249Thr)
 gnomAD v4
21g.46366939G>CCA410569721PCNTc.*1461G>C (n.*1461G>C)
n.3051G>C
c.2965G>C (p.Ala989Pro)
c.*2208G>C (n.*2208G>C)
n.3234G>C
c.2611G>C (p.Ala871Pro)
c.3046G>C (p.Ala1016Pro)
c.1849G>C (p.Ala617Pro)
c.745G>C (p.Ala249Pro)
21g.46366939G>TCA410569722PCNTc.*1461G>T (n.*1461G>T)
n.3051G>T
c.2965G>T (p.Ala989Ser)
c.*2208G>T (n.*2208G>T)
n.3234G>T
c.2611G>T (p.Ala871Ser)
c.3046G>T (p.Ala1016Ser)
c.1849G>T (p.Ala617Ser)
c.745G>T (p.Ala249Ser)
 gnomAD v4
21g.46366939_46366940delinsGCCA2392640183PCNTc.*1461_*1462delinsGC (n.*1461_*1462delinsGC)
n.3051_3052delinsGC
c.2965_2966delinsGC (p.Ala989=)
c.*2208_*2209delinsGC (n.*2208_*2209delinsGC)
n.3234_3235delinsGC
c.2611_2612delinsGC (p.Ala871=)
c.3046_3047delinsGC (p.Ala1016=)
c.1849_1850delinsGC (p.Ala617=)
c.745_746delinsGC (p.Ala249=)
21g.46366940C>ACA410569723PCNTc.*1462C>A (n.*1462C>A)
n.3052C>A
c.2966C>A (p.Ala989Asp)
c.*2209C>A (n.*2209C>A)
n.3235C>A
c.2612C>A (p.Ala871Asp)
c.3047C>A (p.Ala1016Asp)
c.1850C>A (p.Ala617Asp)
c.746C>A (p.Ala249Asp)
21g.46366940C=CA2392640185PCNTc.*1462C= (n.*1462C=)
n.3052C=
c.2966C= (p.Ala989=)
c.*2209C= (n.*2209C=)
n.3235C=
c.2612C= (p.Ala871=)
c.3047C= (p.Ala1016=)
c.1850C= (p.Ala617=)
c.746C= (p.Ala249=)
21g.46366940C>GCA410569724PCNTc.*1462C>G (n.*1462C>G)
n.3052C>G
c.2966C>G (p.Ala989Gly)
c.*2209C>G (n.*2209C>G)
n.3235C>G
c.2612C>G (p.Ala871Gly)
c.3047C>G (p.Ala1016Gly)
c.1850C>G (p.Ala617Gly)
c.746C>G (p.Ala249Gly)
21g.46366940C>TCA410569725PCNTc.*1462C>T (n.*1462C>T)
n.3052C>T
c.2966C>T (p.Ala989Val)
c.*2209C>T (n.*2209C>T)
n.3235C>T
c.2612C>T (p.Ala871Val)
c.3047C>T (p.Ala1016Val)
c.1850C>T (p.Ala617Val)
c.746C>T (p.Ala249Val)
 dbSNP gnomAD v2 gnomAD v4
21g.46366942dupCA2392640184PCNTc.*1464dup (n.*1464dup)
n.3054dup
c.2968dup (p.Leu990ProfsTer9)
c.*2211dup (n.*2211dup)
n.3237dup
c.2614dup (p.Leu872ProfsTer9)
c.3049dup (p.Leu1017ProfsTer9)
c.1852dup (p.Leu618ProfsTer9)
c.748dup (p.Leu250ProfsTer9)
 dbSNP
21g.46366942delCA749887218PCNTc.*1464del (n.*1464del)
n.3054del
c.2968del (p.Leu990Ter)
c.*2211del (n.*2211del)
n.3237del
c.2614del (p.Leu872Ter)
c.3049del (p.Leu1017Ter)
c.1852del (p.Leu618Ter)
c.748del (p.Leu250Ter)
 dbSNP
21g.46366941C>ACA513173685PCNTc.*1463C>A (n.*1463C>A)
n.3053C>A
c.2967C>A (p.Ala989=)
c.*2210C>A (n.*2210C>A)
n.3236C>A
c.2613C>A (p.Ala871=)
c.3048C>A (p.Ala1016=)
c.1851C>A (p.Ala617=)
c.747C>A (p.Ala249=)
21g.46366941C>GCA513173686PCNTc.*1463C>G (n.*1463C>G)
n.3053C>G
c.2967C>G (p.Ala989=)
c.*2210C>G (n.*2210C>G)
n.3236C>G
c.2613C>G (p.Ala871=)
c.3048C>G (p.Ala1016=)
c.1851C>G (p.Ala617=)
c.747C>G (p.Ala249=)
 ClinVar gnomAD v4
21g.46366941C>TCA513173687PCNTc.*1463C>T (n.*1463C>T)
n.3053C>T
c.2967C>T (p.Ala989=)
c.*2210C>T (n.*2210C>T)
n.3236C>T
c.2613C>T (p.Ala871=)
c.3048C>T (p.Ala1016=)
c.1851C>T (p.Ala617=)
c.747C>T (p.Ala249=)
 gnomAD v4
21g.46366942C>ACA410569726PCNTc.*1464C>A (n.*1464C>A)
n.3054C>A
c.2968C>A (p.Leu990Ile)
c.*2211C>A (n.*2211C>A)
n.3237C>A
c.2614C>A (p.Leu872Ile)
c.3049C>A (p.Leu1017Ile)
c.1852C>A (p.Leu618Ile)
c.748C>A (p.Leu250Ile)
21g.46366942C>GCA410569727PCNTc.*1464C>G (n.*1464C>G)
n.3054C>G
c.2968C>G (p.Leu990Val)
c.*2211C>G (n.*2211C>G)
n.3237C>G
c.2614C>G (p.Leu872Val)
c.3049C>G (p.Leu1017Val)
c.1852C>G (p.Leu618Val)
c.748C>G (p.Leu250Val)
21g.46366942C>TCA513173688PCNTc.*1464C>T (n.*1464C>T)
n.3054C>T
c.2968C>T (p.Leu990=)
c.*2211C>T (n.*2211C>T)
n.3237C>T
c.2614C>T (p.Leu872=)
c.3049C>T (p.Leu1017=)
c.1852C>T (p.Leu618=)
c.748C>T (p.Leu250=)
 ClinVar
21g.46366943T>ACA410569730PCNTc.*1465T>A (n.*1465T>A)
n.3055T>A
c.2969T>A (p.Leu990Gln)
c.*2212T>A (n.*2212T>A)
n.3238T>A
c.2615T>A (p.Leu872Gln)
c.3050T>A (p.Leu1017Gln)
c.1853T>A (p.Leu618Gln)
c.749T>A (p.Leu250Gln)
21g.46366943T>CCA410569728PCNTc.*1465T>C (n.*1465T>C)
n.3055T>C
c.2969T>C (p.Leu990Pro)
c.*2212T>C (n.*2212T>C)
n.3238T>C
c.2615T>C (p.Leu872Pro)
c.3050T>C (p.Leu1017Pro)
c.1853T>C (p.Leu618Pro)
c.749T>C (p.Leu250Pro)
21g.46366943T>GCA410569729PCNTc.*1465T>G (n.*1465T>G)
n.3055T>G
c.2969T>G (p.Leu990Arg)
c.*2212T>G (n.*2212T>G)
n.3238T>G
c.2615T>G (p.Leu872Arg)
c.3050T>G (p.Leu1017Arg)
c.1853T>G (p.Leu618Arg)
c.749T>G (p.Leu250Arg)
21g.46366944A>CCA513173689PCNTc.*1466A>C (n.*1466A>C)
n.3056A>C
c.2970A>C (p.Leu990=)
c.*2213A>C (n.*2213A>C)
n.3239A>C
c.2616A>C (p.Leu872=)
c.3051A>C (p.Leu1017=)
c.1854A>C (p.Leu618=)
c.750A>C (p.Leu250=)
21g.46366944A>GCA513173690PCNTc.*1466A>G (n.*1466A>G)
n.3056A>G
c.2970A>G (p.Leu990=)
c.*2213A>G (n.*2213A>G)
n.3239A>G
c.2616A>G (p.Leu872=)
c.3051A>G (p.Leu1017=)
c.1854A>G (p.Leu618=)
c.750A>G (p.Leu250=)
 gnomAD v4
21g.46366944A>TCA513173691PCNTc.*1466A>T (n.*1466A>T)
n.3056A>T
c.2970A>T (p.Leu990=)
c.*2213A>T (n.*2213A>T)
n.3239A>T
c.2616A>T (p.Leu872=)
c.3051A>T (p.Leu1017=)
c.1854A>T (p.Leu618=)
c.750A>T (p.Leu250=)
21g.46366945G>ACA410569731PCNTc.*1467G>A (n.*1467G>A)
n.3057G>A
c.2971G>A (p.Glu991Lys)
c.*2214G>A (n.*2214G>A)
n.3240G>A
c.2617G>A (p.Glu873Lys)
c.3052G>A (p.Glu1018Lys)
c.1855G>A (p.Glu619Lys)
c.751G>A (p.Glu251Lys)
21g.46366945G>CCA410569732PCNTc.*1467G>C (n.*1467G>C)
n.3057G>C
c.2971G>C (p.Glu991Gln)
c.*2214G>C (n.*2214G>C)
n.3240G>C
c.2617G>C (p.Glu873Gln)
c.3052G>C (p.Glu1018Gln)
c.1855G>C (p.Glu619Gln)
c.751G>C (p.Glu251Gln)
21g.46366945G>TCA410569733PCNTc.*1467G>T (n.*1467G>T)
n.3057G>T
c.2971G>T (p.Glu991Ter)
c.*2214G>T (n.*2214G>T)
n.3240G>T
c.2617G>T (p.Glu873Ter)
c.3052G>T (p.Glu1018Ter)
c.1855G>T (p.Glu619Ter)
c.751G>T (p.Glu251Ter)
21g.46366946A>CCA410569734PCNTc.*1468A>C (n.*1468A>C)
n.3058A>C
c.2972A>C (p.Glu991Ala)
c.*2215A>C (n.*2215A>C)
n.3241A>C
c.2618A>C (p.Glu873Ala)
c.3053A>C (p.Glu1018Ala)
c.1856A>C (p.Glu619Ala)
c.752A>C (p.Glu251Ala)
21g.46366946A>GCA410569735PCNTc.*1468A>G (n.*1468A>G)
n.3058A>G
c.2972A>G (p.Glu991Gly)
c.*2215A>G (n.*2215A>G)
n.3241A>G
c.2618A>G (p.Glu873Gly)
c.3053A>G (p.Glu1018Gly)
c.1856A>G (p.Glu619Gly)
c.752A>G (p.Glu251Gly)
21g.46366946A>TCA410569736PCNTc.*1468A>T (n.*1468A>T)
n.3058A>T
c.2972A>T (p.Glu991Val)
c.*2215A>T (n.*2215A>T)
n.3241A>T
c.2618A>T (p.Glu873Val)
c.3053A>T (p.Glu1018Val)
c.1856A>T (p.Glu619Val)
c.752A>T (p.Glu251Val)
21g.46366947G>ACA513173694PCNTc.*1469G>A (n.*1469G>A)
n.3059G>A
c.2973G>A (p.Glu991=)
c.*2216G>A (n.*2216G>A)
n.3242G>A
c.2619G>A (p.Glu873=)
c.3054G>A (p.Glu1018=)
c.1857G>A (p.Glu619=)
c.753G>A (p.Glu251=)
 dbSNP gnomAD v2 gnomAD v4
21g.46366947G>CCA410569737PCNTc.*1469G>C (n.*1469G>C)
n.3059G>C
c.2973G>C (p.Glu991Asp)
c.*2216G>C (n.*2216G>C)
n.3242G>C
c.2619G>C (p.Glu873Asp)
c.3054G>C (p.Glu1018Asp)
c.1857G>C (p.Glu619Asp)
c.753G>C (p.Glu251Asp)
 gnomAD v4
21g.46366947G=CA2392640186PCNTc.*1469G= (n.*1469G=)
n.3059G=
c.2973G= (p.Glu991=)
c.*2216G= (n.*2216G=)
n.3242G=
c.2619G= (p.Glu873=)
c.3054G= (p.Glu1018=)
c.1857G= (p.Glu619=)
c.753G= (p.Glu251=)
21g.46366947G>TCA410569738PCNTc.*1469G>T (n.*1469G>T)
n.3059G>T
c.2973G>T (p.Glu991Asp)
c.*2216G>T (n.*2216G>T)
n.3242G>T
c.2619G>T (p.Glu873Asp)
c.3054G>T (p.Glu1018Asp)
c.1857G>T (p.Glu619Asp)
c.753G>T (p.Glu251Asp)
21g.46366948C>ACA410569739PCNTc.*1470C>A (n.*1470C>A)
n.3060C>A
c.2974C>A (p.Leu992Ile)
c.*2217C>A (n.*2217C>A)
n.3243C>A
c.2620C>A (p.Leu874Ile)
c.3055C>A (p.Leu1019Ile)
c.1858C>A (p.Leu620Ile)
c.754C>A (p.Leu252Ile)
21g.46366948C>GCA410569740PCNTc.*1470C>G (n.*1470C>G)
n.3060C>G
c.2974C>G (p.Leu992Val)
c.*2217C>G (n.*2217C>G)
n.3243C>G
c.2620C>G (p.Leu874Val)
c.3055C>G (p.Leu1019Val)
c.1858C>G (p.Leu620Val)
c.754C>G (p.Leu252Val)
21g.46366948C>TCA410569741PCNTc.*1470C>T (n.*1470C>T)
n.3060C>T
c.2974C>T (p.Leu992Phe)
c.*2217C>T (n.*2217C>T)
n.3243C>T
c.2620C>T (p.Leu874Phe)
c.3055C>T (p.Leu1019Phe)
c.1858C>T (p.Leu620Phe)
c.754C>T (p.Leu252Phe)
21g.46366949T>ACA410569743PCNTc.*1471T>A (n.*1471T>A)
n.3061T>A
c.2975T>A (p.Leu992His)
c.*2218T>A (n.*2218T>A)
n.3244T>A
c.2621T>A (p.Leu874His)
c.3056T>A (p.Leu1019His)
c.1859T>A (p.Leu620His)
c.755T>A (p.Leu252His)
21g.46366949T>CCA10079140PCNTc.*1471T>C (n.*1471T>C)
n.3061T>C
c.2975T>C (p.Leu992Pro)
c.*2218T>C (n.*2218T>C)
n.3244T>C
c.2621T>C (p.Leu874Pro)
c.3056T>C (p.Leu1019Pro)
c.1859T>C (p.Leu620Pro)
c.755T>C (p.Leu252Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46366949T>GCA410569742PCNTc.*1471T>G (n.*1471T>G)
n.3061T>G
c.2975T>G (p.Leu992Arg)
c.*2218T>G (n.*2218T>G)
n.3244T>G
c.2621T>G (p.Leu874Arg)
c.3056T>G (p.Leu1019Arg)
c.1859T>G (p.Leu620Arg)
c.755T>G (p.Leu252Arg)
21g.46366949T=CA2392640187PCNTc.*1471T= (n.*1471T=)
n.3061T=
c.2975T= (p.Leu992=)
c.*2218T= (n.*2218T=)
n.3244T=
c.2621T= (p.Leu874=)
c.3056T= (p.Leu1019=)
c.1859T= (p.Leu620=)
c.755T= (p.Leu252=)
21g.46366950C>ACA513173698PCNTc.*1472C>A (n.*1472C>A)
n.3062C>A
c.2976C>A (p.Leu992=)
c.*2219C>A (n.*2219C>A)
n.3245C>A
c.2622C>A (p.Leu874=)
c.3057C>A (p.Leu1019=)
c.1860C>A (p.Leu620=)
c.756C>A (p.Leu252=)
21g.46366950C=CA2392640188PCNTc.*1472C= (n.*1472C=)
n.3062C=
c.2976C= (p.Leu992=)
c.*2219C= (n.*2219C=)
n.3245C=
c.2622C= (p.Leu874=)
c.3057C= (p.Leu1019=)
c.1860C= (p.Leu620=)
c.756C= (p.Leu252=)
21g.46366950C>GCA513173699PCNTc.*1472C>G (n.*1472C>G)
n.3062C>G
c.2976C>G (p.Leu992=)
c.*2219C>G (n.*2219C>G)
n.3245C>G
c.2622C>G (p.Leu874=)
c.3057C>G (p.Leu1019=)
c.1860C>G (p.Leu620=)
c.756C>G (p.Leu252=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.46366950C>TCA513173700PCNTc.*1472C>T (n.*1472C>T)
n.3062C>T
c.2976C>T (p.Leu992=)
c.*2219C>T (n.*2219C>T)
n.3245C>T
c.2622C>T (p.Leu874=)
c.3057C>T (p.Leu1019=)
c.1860C>T (p.Leu620=)
c.756C>T (p.Leu252=)
21g.46366951T>ACA410569744PCNTc.*1473T>A (n.*1473T>A)
n.3063T>A
c.2977T>A (p.Leu993Ile)
c.*2220T>A (n.*2220T>A)
n.3246T>A
c.2623T>A (p.Leu875Ile)
c.3058T>A (p.Leu1020Ile)
c.1861T>A (p.Leu621Ile)
c.757T>A (p.Leu253Ile)
21g.46366951T>CCA513173702PCNTc.*1473T>C (n.*1473T>C)
n.3063T>C
c.2977T>C (p.Leu993=)
c.*2220T>C (n.*2220T>C)
n.3246T>C
c.2623T>C (p.Leu875=)
c.3058T>C (p.Leu1020=)
c.1861T>C (p.Leu621=)
c.757T>C (p.Leu253=)
 gnomAD v4
21g.46366951T>GCA410569745PCNTc.*1473T>G (n.*1473T>G)
n.3063T>G
c.2977T>G (p.Leu993Val)
c.*2220T>G (n.*2220T>G)
n.3246T>G
c.2623T>G (p.Leu875Val)
c.3058T>G (p.Leu1020Val)
c.1861T>G (p.Leu621Val)
c.757T>G (p.Leu253Val)
21g.46366952T>ACA410569747PCNTc.*1474T>A (n.*1474T>A)
n.3064T>A
c.2978T>A (p.Leu993Ter)
c.*2221T>A (n.*2221T>A)
n.3247T>A
c.2624T>A (p.Leu875Ter)
c.3059T>A (p.Leu1020Ter)
c.1862T>A (p.Leu621Ter)
c.758T>A (p.Leu253Ter)
21g.46366952T>CCA410569748PCNTc.*1474T>C (n.*1474T>C)
n.3064T>C
c.2978T>C (p.Leu993Ser)
c.*2221T>C (n.*2221T>C)
n.3247T>C
c.2624T>C (p.Leu875Ser)
c.3059T>C (p.Leu1020Ser)
c.1862T>C (p.Leu621Ser)
c.758T>C (p.Leu253Ser)
21g.46366952T>GCA410569749PCNTc.*1474T>G (n.*1474T>G)
n.3064T>G
c.2978T>G (p.Leu993Ter)
c.*2221T>G (n.*2221T>G)
n.3247T>G
c.2624T>G (p.Leu875Ter)
c.3059T>G (p.Leu1020Ter)
c.1862T>G (p.Leu621Ter)
c.758T>G (p.Leu253Ter)
21g.46366953A>CCA410569750PCNTc.*1475A>C (n.*1475A>C)
n.3065A>C
c.2979A>C (p.Leu993Phe)
c.*2222A>C (n.*2222A>C)
n.3248A>C
c.2625A>C (p.Leu875Phe)
c.3060A>C (p.Leu1020Phe)
c.1863A>C (p.Leu621Phe)
c.759A>C (p.Leu253Phe)
21g.46366953A>GCA513173703PCNTc.*1475A>G (n.*1475A>G)
n.3065A>G
c.2979A>G (p.Leu993=)
c.*2222A>G (n.*2222A>G)
n.3248A>G
c.2625A>G (p.Leu875=)
c.3060A>G (p.Leu1020=)
c.1863A>G (p.Leu621=)
c.759A>G (p.Leu253=)
21g.46366953A>TCA410569751PCNTc.*1475A>T (n.*1475A>T)
n.3065A>T
c.2979A>T (p.Leu993Phe)
c.*2222A>T (n.*2222A>T)
n.3248A>T
c.2625A>T (p.Leu875Phe)
c.3060A>T (p.Leu1020Phe)
c.1863A>T (p.Leu621Phe)
c.759A>T (p.Leu253Phe)
21g.46366954C>ACA513173704PCNTc.*1476C>A (n.*1476C>A)
n.3066C>A
c.2980C>A (p.Arg994=)
c.*2223C>A (n.*2223C>A)
n.3249C>A
c.2626C>A (p.Arg876=)
c.3061C>A (p.Arg1021=)
c.1864C>A (p.Arg622=)
c.760C>A (p.Arg254=)
 dbSNP gnomAD v4
21g.46366954C=CA2392640190PCNTc.*1476C= (n.*1476C=)
n.3066C=
c.2980C= (p.Arg994=)
c.*2223C= (n.*2223C=)
n.3249C=
c.2626C= (p.Arg876=)
c.3061C= (p.Arg1021=)
c.1864C= (p.Arg622=)
c.760C= (p.Arg254=)
21g.46366954C>GCA410569752PCNTc.*1476C>G (n.*1476C>G)
n.3066C>G
c.2980C>G (p.Arg994Gly)
c.*2223C>G (n.*2223C>G)
n.3249C>G
c.2626C>G (p.Arg876Gly)
c.3061C>G (p.Arg1021Gly)
c.1864C>G (p.Arg622Gly)
c.760C>G (p.Arg254Gly)
21g.46366954C>TCA10079141PCNTc.*1476C>T (n.*1476C>T)
n.3066C>T
c.2980C>T (p.Arg994Ter)
c.*2223C>T (n.*2223C>T)
n.3249C>T
c.2626C>T (p.Arg876Ter)
c.3061C>T (p.Arg1021Ter)
c.1864C>T (p.Arg622Ter)
c.760C>T (p.Arg254Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46366954_46366965delinsCGAGCAGACTTTCA2392640189PCNTc.*1476_*1487delinsCGAGCAGACTTT (n.*1476_*1487delinsCGAGCAGACTTT)
n.3066_3077delinsCGAGCAGACTTT
c.2980_2991delinsCGAGCAGACTTT (p.Arg994=)
c.*2223_*2234delinsCGAGCAGACTTT (n.*2223_*2234delinsCGAGCAGACTTT)
n.3249_3260delinsCGAGCAGACTTT
c.2626_2637delinsCGAGCAGACTTT (p.Arg876=)
c.3061_3072delinsCGAGCAGACTTT (p.Arg1021=)
c.1864_1875delinsCGAGCAGACTTT (p.Arg622=)
c.760_771delinsCGAGCAGACTTT (p.Arg254=)
21g.46366955G>ACA10079142PCNTc.*1477G>A (n.*1477G>A)
n.3067G>A
c.2981G>A (p.Arg994Gln)
c.*2224G>A (n.*2224G>A)
n.3250G>A
c.2627G>A (p.Arg876Gln)
c.3062G>A (p.Arg1021Gln)
c.1865G>A (p.Arg622Gln)
c.761G>A (p.Arg254Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46366955G>CCA410569753PCNTc.*1477G>C (n.*1477G>C)
n.3067G>C
c.2981G>C (p.Arg994Pro)
c.*2224G>C (n.*2224G>C)
n.3250G>C
c.2627G>C (p.Arg876Pro)
c.3062G>C (p.Arg1021Pro)
c.1865G>C (p.Arg622Pro)
c.761G>C (p.Arg254Pro)
21g.46366955G=CA2392640191PCNTc.*1477G= (n.*1477G=)
n.3067G=
c.2981G= (p.Arg994=)
c.*2224G= (n.*2224G=)
n.3250G=
c.2627G= (p.Arg876=)
c.3062G= (p.Arg1021=)
c.1865G= (p.Arg622=)
c.761G= (p.Arg254=)
21g.46366955G>TCA410569754PCNTc.*1477G>T (n.*1477G>T)
n.3067G>T
c.2981G>T (p.Arg994Leu)
c.*2224G>T (n.*2224G>T)
n.3250G>T
c.2627G>T (p.Arg876Leu)
c.3062G>T (p.Arg1021Leu)
c.1865G>T (p.Arg622Leu)
c.761G>T (p.Arg254Leu)
 gnomAD v4
21g.46366958_46366968delCA251043PCNTc.*1480_*1490del (n.*1480_*1490del)
n.3070_3080del
c.2984_2994del (p.Ala995GlyfsTer?)
c.*2227_*2237del (n.*2227_*2237del)
n.3253_3263del
c.2630_2640del (p.Ala877GlyfsTer?)
c.3065_3075del (p.Ala1022GlyfsTer?)
c.1868_1878del (p.Ala623GlyfsTer?)
c.764_774del (p.Ala255GlyfsTer?)
 ClinVar dbSNP
21g.46366956A>CCA513173706PCNTc.*1478A>C (n.*1478A>C)
n.3068A>C
c.2982A>C (p.Arg994=)
c.*2225A>C (n.*2225A>C)
n.3251A>C
c.2628A>C (p.Arg876=)
c.3063A>C (p.Arg1021=)
c.1866A>C (p.Arg622=)
c.762A>C (p.Arg254=)
21g.46366956A>GCA513173707PCNTc.*1478A>G (n.*1478A>G)
n.3068A>G
c.2982A>G (p.Arg994=)
c.*2225A>G (n.*2225A>G)
n.3251A>G
c.2628A>G (p.Arg876=)
c.3063A>G (p.Arg1021=)
c.1866A>G (p.Arg622=)
c.762A>G (p.Arg254=)
21g.46366956A>TCA513173708PCNTc.*1478A>T (n.*1478A>T)
n.3068A>T
c.2982A>T (p.Arg994=)
c.*2225A>T (n.*2225A>T)
n.3251A>T
c.2628A>T (p.Arg876=)
c.3063A>T (p.Arg1021=)
c.1866A>T (p.Arg622=)
c.762A>T (p.Arg254=)
21g.46366957G>ACA410569757PCNTc.*1479G>A (n.*1479G>A)
n.3069G>A
c.2983G>A (p.Ala995Thr)
c.*2226G>A (n.*2226G>A)
n.3252G>A
c.2629G>A (p.Ala877Thr)
c.3064G>A (p.Ala1022Thr)
c.1867G>A (p.Ala623Thr)
c.763G>A (p.Ala255Thr)
21g.46366957G>CCA410569756PCNTc.*1479G>C (n.*1479G>C)
n.3069G>C
c.2983G>C (p.Ala995Pro)
c.*2226G>C (n.*2226G>C)
n.3252G>C
c.2629G>C (p.Ala877Pro)
c.3064G>C (p.Ala1022Pro)
c.1867G>C (p.Ala623Pro)
c.763G>C (p.Ala255Pro)
21g.46366957G>TCA410569755PCNTc.*1479G>T (n.*1479G>T)
n.3069G>T
c.2983G>T (p.Ala995Ser)
c.*2226G>T (n.*2226G>T)
n.3252G>T
c.2629G>T (p.Ala877Ser)
c.3064G>T (p.Ala1022Ser)
c.1867G>T (p.Ala623Ser)
c.763G>T (p.Ala255Ser)
21g.46366958C>ACA410569760PCNTc.*1480C>A (n.*1480C>A)
n.3070C>A
c.2984C>A (p.Ala995Glu)
c.*2227C>A (n.*2227C>A)
n.3253C>A
c.2630C>A (p.Ala877Glu)
c.3065C>A (p.Ala1022Glu)
c.1868C>A (p.Ala623Glu)
c.764C>A (p.Ala255Glu)
 dbSNP
21g.46366958C=CA2392640192PCNTc.*1480C= (n.*1480C=)
n.3070C=
c.2984C= (p.Ala995=)
c.*2227C= (n.*2227C=)
n.3253C=
c.2630C= (p.Ala877=)
c.3065C= (p.Ala1022=)
c.1868C= (p.Ala623=)
c.764C= (p.Ala255=)
21g.46366958C>GCA410569761PCNTc.*1480C>G (n.*1480C>G)
n.3070C>G
c.2984C>G (p.Ala995Gly)
c.*2227C>G (n.*2227C>G)
n.3253C>G
c.2630C>G (p.Ala877Gly)
c.3065C>G (p.Ala1022Gly)
c.1868C>G (p.Ala623Gly)
c.764C>G (p.Ala255Gly)
21g.46366958C>TCA410569763PCNTc.*1480C>T (n.*1480C>T)
n.3070C>T
c.2984C>T (p.Ala995Val)
c.*2227C>T (n.*2227C>T)
n.3253C>T
c.2630C>T (p.Ala877Val)
c.3065C>T (p.Ala1022Val)
c.1868C>T (p.Ala623Val)
c.764C>T (p.Ala255Val)
 gnomAD v4
21g.46366959A=CA2392640193PCNTc.*1481A= (n.*1481A=)
n.3071A=
c.2985A= (p.Ala995=)
c.*2228A= (n.*2228A=)
n.3254A=
c.2631A= (p.Ala877=)
c.3066A= (p.Ala1022=)
c.1869A= (p.Ala623=)
c.765A= (p.Ala255=)
21g.46366959A>CCA10079143PCNTc.*1481A>C (n.*1481A>C)
n.3071A>C
c.2985A>C (p.Ala995=)
c.*2228A>C (n.*2228A>C)
n.3254A>C
c.2631A>C (p.Ala877=)
c.3066A>C (p.Ala1022=)
c.1869A>C (p.Ala623=)
c.765A>C (p.Ala255=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46366959A>GCA513173710PCNTc.*1481A>G (n.*1481A>G)
n.3071A>G
c.2985A>G (p.Ala995=)
c.*2228A>G (n.*2228A>G)
n.3254A>G
c.2631A>G (p.Ala877=)
c.3066A>G (p.Ala1022=)
c.1869A>G (p.Ala623=)
c.765A>G (p.Ala255=)
21g.46366959A>TCA513173711PCNTc.*1481A>T (n.*1481A>T)
n.3071A>T
c.2985A>T (p.Ala995=)
c.*2228A>T (n.*2228A>T)
n.3254A>T
c.2631A>T (p.Ala877=)
c.3066A>T (p.Ala1022=)
c.1869A>T (p.Ala623=)
c.765A>T (p.Ala255=)
21g.46366960G>ACA410569765PCNTc.*1482G>A (n.*1482G>A)
n.3072G>A
c.2986G>A (p.Asp996Asn)
c.*2229G>A (n.*2229G>A)
n.3255G>A
c.2632G>A (p.Asp878Asn)
c.3067G>A (p.Asp1023Asn)
c.1870G>A (p.Asp624Asn)
c.766G>A (p.Asp256Asn)
 dbSNP gnomAD v4
21g.46366960G>CCA410569767PCNTc.*1482G>C (n.*1482G>C)
n.3072G>C
c.2986G>C (p.Asp996His)
c.*2229G>C (n.*2229G>C)
n.3255G>C
c.2632G>C (p.Asp878His)
c.3067G>C (p.Asp1023His)
c.1870G>C (p.Asp624His)
c.766G>C (p.Asp256His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46366960G=CA2392640194PCNTc.*1482G= (n.*1482G=)
n.3072G=
c.2986G= (p.Asp996=)
c.*2229G= (n.*2229G=)
n.3255G=
c.2632G= (p.Asp878=)
c.3067G= (p.Asp1023=)
c.1870G= (p.Asp624=)
c.766G= (p.Asp256=)
21g.46366960G>TCA410569769PCNTc.*1482G>T (n.*1482G>T)
n.3072G>T
c.2986G>T (p.Asp996Tyr)
c.*2229G>T (n.*2229G>T)
n.3255G>T
c.2632G>T (p.Asp878Tyr)
c.3067G>T (p.Asp1023Tyr)
c.1870G>T (p.Asp624Tyr)
c.766G>T (p.Asp256Tyr)
21g.46366961A>CCA410569772PCNTc.*1483A>C (n.*1483A>C)
n.3073A>C
c.2987A>C (p.Asp996Ala)
c.*2230A>C (n.*2230A>C)
n.3256A>C
c.2633A>C (p.Asp878Ala)
c.3068A>C (p.Asp1023Ala)
c.1871A>C (p.Asp624Ala)
c.767A>C (p.Asp256Ala)
21g.46366961A>GCA410569774PCNTc.*1483A>G (n.*1483A>G)
n.3073A>G
c.2987A>G (p.Asp996Gly)
c.*2230A>G (n.*2230A>G)
n.3256A>G
c.2633A>G (p.Asp878Gly)
c.3068A>G (p.Asp1023Gly)
c.1871A>G (p.Asp624Gly)
c.767A>G (p.Asp256Gly)
21g.46366961A>TCA410569777PCNTc.*1483A>T (n.*1483A>T)
n.3073A>T
c.2987A>T (p.Asp996Val)
c.*2230A>T (n.*2230A>T)
n.3256A>T
c.2633A>T (p.Asp878Val)
c.3068A>T (p.Asp1023Val)
c.1871A>T (p.Asp624Val)
c.767A>T (p.Asp256Val)
21g.46366962C>ACA410569780PCNTc.*1484C>A (n.*1484C>A)
n.3074C>A
c.2988C>A (p.Asp996Glu)
c.*2231C>A (n.*2231C>A)
n.3257C>A
c.2634C>A (p.Asp878Glu)
c.3069C>A (p.Asp1023Glu)
c.1872C>A (p.Asp624Glu)
c.768C>A (p.Asp256Glu)
21g.46366962C>GCA410569781PCNTc.*1484C>G (n.*1484C>G)
n.3074C>G
c.2988C>G (p.Asp996Glu)
c.*2231C>G (n.*2231C>G)
n.3257C>G
c.2634C>G (p.Asp878Glu)
c.3069C>G (p.Asp1023Glu)
c.1872C>G (p.Asp624Glu)
c.768C>G (p.Asp256Glu)
21g.46366962C>TCA513173712PCNTc.*1484C>T (n.*1484C>T)
n.3074C>T
c.2988C>T (p.Asp996=)
c.*2231C>T (n.*2231C>T)
n.3257C>T
c.2634C>T (p.Asp878=)
c.3069C>T (p.Asp1023=)
c.1872C>T (p.Asp624=)
c.768C>T (p.Asp256=)
21g.46366962_46366964delinsCTTCA2392640195PCNTc.*1484_*1486delinsCTT (n.*1484_*1486delinsCTT)
n.3074_3076delinsCTT
c.2988_2990delinsCTT (p.Asp996=)
c.*2231_*2233delinsCTT (n.*2231_*2233delinsCTT)
n.3257_3259delinsCTT
c.2634_2636delinsCTT (p.Asp878=)
c.3069_3071delinsCTT (p.Asp1023=)
c.1872_1874delinsCTT (p.Asp624=)
c.768_770delinsCTT (p.Asp256=)
21g.46366963T>ACA410569789PCNTc.*1485T>A (n.*1485T>A)
n.3075T>A
c.2989T>A (p.Phe997Ile)
c.*2232T>A (n.*2232T>A)
n.3258T>A
c.2635T>A (p.Phe879Ile)
c.3070T>A (p.Phe1024Ile)
c.1873T>A (p.Phe625Ile)
c.769T>A (p.Phe257Ile)
 gnomAD v4
21g.46366963T>CCA410569785PCNTc.*1485T>C (n.*1485T>C)
n.3075T>C
c.2989T>C (p.Phe997Leu)
c.*2232T>C (n.*2232T>C)
n.3258T>C
c.2635T>C (p.Phe879Leu)
c.3070T>C (p.Phe1024Leu)
c.1873T>C (p.Phe625Leu)
c.769T>C (p.Phe257Leu)
 dbSNP gnomAD v3 gnomAD v4
21g.46366963T>GCA410569788PCNTc.*1485T>G (n.*1485T>G)
n.3075T>G
c.2989T>G (p.Phe997Val)
c.*2232T>G (n.*2232T>G)
n.3258T>G
c.2635T>G (p.Phe879Val)
c.3070T>G (p.Phe1024Val)
c.1873T>G (p.Phe625Val)
c.769T>G (p.Phe257Val)
21g.46366964_46366965dupCA1022892882PCNTc.*1486_*1487dup (n.*1486_*1487dup)
n.3076_3077dup
c.2990_2991dup (p.Glu998LeufsTer16)
c.*2233_*2234dup (n.*2233_*2234dup)
n.3259_3260dup
c.2636_2637dup (p.Glu880LeufsTer16)
c.3071_3072dup (p.Glu1025LeufsTer16)
c.1874_1875dup (p.Glu626LeufsTer16)
c.770_771dup (p.Glu258LeufsTer16)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.46366964_46366965delCA638499305PCNTc.*1486_*1487del (n.*1486_*1487del)
n.3076_3077del
c.2990_2991del (p.Phe997Ter)
c.*2233_*2234del (n.*2233_*2234del)
n.3259_3260del
c.2636_2637del (p.Phe879Ter)
c.3071_3072del (p.Phe1024Ter)
c.1874_1875del (p.Phe625Ter)
c.770_771del (p.Phe257Ter)
 dbSNP gnomAD v2 gnomAD v4
21g.46366964T>ACA410569792PCNTc.*1486T>A (n.*1486T>A)
n.3076T>A
c.2990T>A (p.Phe997Tyr)
c.*2233T>A (n.*2233T>A)
n.3259T>A
c.2636T>A (p.Phe879Tyr)
c.3071T>A (p.Phe1024Tyr)
c.1874T>A (p.Phe625Tyr)
c.770T>A (p.Phe257Tyr)
21g.46366964T>CCA410569795PCNTc.*1486T>C (n.*1486T>C)
n.3076T>C
c.2990T>C (p.Phe997Ser)
c.*2233T>C (n.*2233T>C)
n.3259T>C
c.2636T>C (p.Phe879Ser)
c.3071T>C (p.Phe1024Ser)
c.1874T>C (p.Phe625Ser)
c.770T>C (p.Phe257Ser)
 gnomAD v4
21g.46366964T>GCA410569797PCNTc.*1486T>G (n.*1486T>G)
n.3076T>G
c.2990T>G (p.Phe997Cys)
c.*2233T>G (n.*2233T>G)
n.3259T>G
c.2636T>G (p.Phe879Cys)
c.3071T>G (p.Phe1024Cys)
c.1874T>G (p.Phe625Cys)
c.770T>G (p.Phe257Cys)
21g.46366964_46366975delinsTTGAGGAACAACCA2392640196PCNTc.*1486_*1497delinsTTGAGGAACAAC (n.*1486_*1497delinsTTGAGGAACAAC)
n.3076_3087delinsTTGAGGAACAAC
c.2990_3001delinsTTGAGGAACAAC (p.Phe997=)
c.*2233_*2244delinsTTGAGGAACAAC (n.*2233_*2244delinsTTGAGGAACAAC)
n.3259_3270delinsTTGAGGAACAAC
c.2636_2647delinsTTGAGGAACAAC (p.Phe879=)
c.3071_3082delinsTTGAGGAACAAC (p.Phe1024=)
c.1874_1885delinsTTGAGGAACAAC (p.Phe625=)
c.770_781delinsTTGAGGAACAAC (p.Phe257=)
21g.46366965T>ACA410569800PCNTc.*1487T>A (n.*1487T>A)
n.3077T>A
c.2991T>A (p.Phe997Leu)
c.*2234T>A (n.*2234T>A)
n.3260T>A
c.2637T>A (p.Phe879Leu)
c.3072T>A (p.Phe1024Leu)
c.1875T>A (p.Phe625Leu)
c.771T>A (p.Phe257Leu)
21g.46366965T>CCA10079144PCNTc.*1487T>C (n.*1487T>C)
n.3077T>C
c.2991T>C (p.Phe997=)
c.*2234T>C (n.*2234T>C)
n.3260T>C
c.2637T>C (p.Phe879=)
c.3072T>C (p.Phe1024=)
c.1875T>C (p.Phe625=)
c.771T>C (p.Phe257=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46366965T>GCA410569803PCNTc.*1487T>G (n.*1487T>G)
n.3077T>G
c.2991T>G (p.Phe997Leu)
c.*2234T>G (n.*2234T>G)
n.3260T>G
c.2637T>G (p.Phe879Leu)
c.3072T>G (p.Phe1024Leu)
c.1875T>G (p.Phe625Leu)
c.771T>G (p.Phe257Leu)
 gnomAD v4
21g.46366965T=CA2392640197PCNTc.*1487T= (n.*1487T=)
n.3077T=
c.2991T= (p.Phe997=)
c.*2234T= (n.*2234T=)
n.3260T=
c.2637T= (p.Phe879=)
c.3072T= (p.Phe1024=)
c.1875T= (p.Phe625=)
c.771T= (p.Phe257=)
21g.46366967_46366977delCA1022892894PCNTc.*1489_*1499del (n.*1489_*1499del)
n.3079_3089del
c.2993_3003del (p.Glu998ValfsTer?)
c.*2236_*2246del (n.*2236_*2246del)
n.3262_3272del
c.2639_2649del (p.Glu880ValfsTer?)
c.3074_3084del (p.Glu1025ValfsTer?)
c.1877_1887del (p.Glu626ValfsTer?)
c.773_783del (p.Glu258ValfsTer?)
 dbSNP gnomAD v3 gnomAD v4
21g.46366966G>ACA410569807PCNTc.*1488G>A (n.*1488G>A)
n.3078G>A
c.2992G>A (p.Glu998Lys)
c.*2235G>A (n.*2235G>A)
n.3261G>A
c.2638G>A (p.Glu880Lys)
c.3073G>A (p.Glu1025Lys)
c.1876G>A (p.Glu626Lys)
c.772G>A (p.Glu258Lys)
21g.46366966G>CCA410569810PCNTc.*1488G>C (n.*1488G>C)
n.3078G>C
c.2992G>C (p.Glu998Gln)
c.*2235G>C (n.*2235G>C)
n.3261G>C
c.2638G>C (p.Glu880Gln)
c.3073G>C (p.Glu1025Gln)
c.1876G>C (p.Glu626Gln)
c.772G>C (p.Glu258Gln)
21g.46366966G>TCA410569811PCNTc.*1488G>T (n.*1488G>T)
n.3078G>T
c.2992G>T (p.Glu998Ter)
c.*2235G>T (n.*2235G>T)
n.3261G>T
c.2638G>T (p.Glu880Ter)
c.3073G>T (p.Glu1025Ter)
c.1876G>T (p.Glu626Ter)
c.772G>T (p.Glu258Ter)
21g.46366967A=CA2392640198PCNTc.*1489A= (n.*1489A=)
n.3079A=
c.2993A= (p.Glu998=)
c.*2236A= (n.*2236A=)
n.3262A=
c.2639A= (p.Glu880=)
c.3074A= (p.Glu1025=)
c.1877A= (p.Glu626=)
c.773A= (p.Glu258=)
21g.46366967A>CCA410569815PCNTc.*1489A>C (n.*1489A>C)
n.3079A>C
c.2993A>C (p.Glu998Ala)
c.*2236A>C (n.*2236A>C)
n.3262A>C
c.2639A>C (p.Glu880Ala)
c.3074A>C (p.Glu1025Ala)
c.1877A>C (p.Glu626Ala)
c.773A>C (p.Glu258Ala)
21g.46366967A>GCA410569817PCNTc.*1489A>G (n.*1489A>G)
n.3079A>G
c.2993A>G (p.Glu998Gly)
c.*2236A>G (n.*2236A>G)
n.3262A>G
c.2639A>G (p.Glu880Gly)
c.3074A>G (p.Glu1025Gly)
c.1877A>G (p.Glu626Gly)
c.773A>G (p.Glu258Gly)
 dbSNP COSMIC
21g.46366967A>TCA410569820PCNTc.*1489A>T (n.*1489A>T)
n.3079A>T
c.2993A>T (p.Glu998Val)
c.*2236A>T (n.*2236A>T)
n.3262A>T
c.2639A>T (p.Glu880Val)
c.3074A>T (p.Glu1025Val)
c.1877A>T (p.Glu626Val)
c.773A>T (p.Glu258Val)
21g.46366968G>ACA513173718PCNTc.*1490G>A (n.*1490G>A)
n.3080G>A
c.2994G>A (p.Glu998=)
c.*2237G>A (n.*2237G>A)
n.3263G>A
c.2640G>A (p.Glu880=)
c.3075G>A (p.Glu1025=)
c.1878G>A (p.Glu626=)
c.774G>A (p.Glu258=)
 ClinVar dbSNP gnomAD v4
21g.46366968G>CCA410569823PCNTc.*1490G>C (n.*1490G>C)
n.3080G>C
c.2994G>C (p.Glu998Asp)
c.*2237G>C (n.*2237G>C)
n.3263G>C
c.2640G>C (p.Glu880Asp)
c.3075G>C (p.Glu1025Asp)
c.1878G>C (p.Glu626Asp)
c.774G>C (p.Glu258Asp)
21g.46366968G=CA2392640199PCNTc.*1490G= (n.*1490G=)
n.3080G=
c.2994G= (p.Glu998=)
c.*2237G= (n.*2237G=)
n.3263G=
c.2640G= (p.Glu880=)
c.3075G= (p.Glu1025=)
c.1878G= (p.Glu626=)
c.774G= (p.Glu258=)
21g.46366968G>TCA410569825PCNTc.*1490G>T (n.*1490G>T)
n.3080G>T
c.2994G>T (p.Glu998Asp)
c.*2237G>T (n.*2237G>T)
n.3263G>T
c.2640G>T (p.Glu880Asp)
c.3075G>T (p.Glu1025Asp)
c.1878G>T (p.Glu626Asp)
c.774G>T (p.Glu258Asp)
21g.46366969G>ACA410569834PCNTc.*1491G>A (n.*1491G>A)
n.3081G>A
c.2995G>A (p.Glu999Lys)
c.*2238G>A (n.*2238G>A)
n.3264G>A
c.2641G>A (p.Glu881Lys)
c.3076G>A (p.Glu1026Lys)
c.1879G>A (p.Glu627Lys)
c.775G>A (p.Glu259Lys)
21g.46366969G>CCA410569831PCNTc.*1491G>C (n.*1491G>C)
n.3081G>C
c.2995G>C (p.Glu999Gln)
c.*2238G>C (n.*2238G>C)
n.3264G>C
c.2641G>C (p.Glu881Gln)
c.3076G>C (p.Glu1026Gln)
c.1879G>C (p.Glu627Gln)
c.775G>C (p.Glu259Gln)
21g.46366969G>TCA410569828PCNTc.*1491G>T (n.*1491G>T)
n.3081G>T
c.2995G>T (p.Glu999Ter)
c.*2238G>T (n.*2238G>T)
n.3264G>T
c.2641G>T (p.Glu881Ter)
c.3076G>T (p.Glu1026Ter)
c.1879G>T (p.Glu627Ter)
c.775G>T (p.Glu259Ter)
21g.46366970A>CCA410569836PCNTc.*1492A>C (n.*1492A>C)
n.3082A>C
c.2996A>C (p.Glu999Ala)
c.*2239A>C (n.*2239A>C)
n.3265A>C
c.2642A>C (p.Glu881Ala)
c.3077A>C (p.Glu1026Ala)
c.1880A>C (p.Glu627Ala)
c.776A>C (p.Glu259Ala)
21g.46366970A>GCA410569839PCNTc.*1492A>G (n.*1492A>G)
n.3082A>G
c.2996A>G (p.Glu999Gly)
c.*2239A>G (n.*2239A>G)
n.3265A>G
c.2642A>G (p.Glu881Gly)
c.3077A>G (p.Glu1026Gly)
c.1880A>G (p.Glu627Gly)
c.776A>G (p.Glu259Gly)
21g.46366970A>TCA410569841PCNTc.*1492A>T (n.*1492A>T)
n.3082A>T
c.2996A>T (p.Glu999Val)
c.*2239A>T (n.*2239A>T)
n.3265A>T
c.2642A>T (p.Glu881Val)
c.3077A>T (p.Glu1026Val)
c.1880A>T (p.Glu627Val)
c.776A>T (p.Glu259Val)
21g.46366973_46366975delCA2655020863PCNTc.*1495_*1497del (n.*1495_*1497del)
n.3085_3087del
c.2999_3001del (p.Gln1000del)
c.*2242_*2244del (n.*2242_*2244del)
n.3268_3270del
c.2645_2647del (p.Gln882del)
c.3080_3082del (p.Gln1027del)
c.1883_1885del (p.Gln628del)
c.779_781del (p.Gln260del)
 gnomAD v4
21g.46366971A>CCA410569844PCNTc.*1493A>C (n.*1493A>C)
n.3083A>C
c.2997A>C (p.Glu999Asp)
c.*2240A>C (n.*2240A>C)
n.3266A>C
c.2643A>C (p.Glu881Asp)
c.3078A>C (p.Glu1026Asp)
c.1881A>C (p.Glu627Asp)
c.777A>C (p.Glu259Asp)
21g.46366971A>GCA513173723PCNTc.*1493A>G (n.*1493A>G)
n.3083A>G
c.2997A>G (p.Glu999=)
c.*2240A>G (n.*2240A>G)
n.3266A>G
c.2643A>G (p.Glu881=)
c.3078A>G (p.Glu1026=)
c.1881A>G (p.Glu627=)
c.777A>G (p.Glu259=)
21g.46366971A>TCA410569846PCNTc.*1493A>T (n.*1493A>T)
n.3083A>T
c.2997A>T (p.Glu999Asp)
c.*2240A>T (n.*2240A>T)
n.3266A>T
c.2643A>T (p.Glu881Asp)
c.3078A>T (p.Glu1026Asp)
c.1881A>T (p.Glu627Asp)
c.777A>T (p.Glu259Asp)
21g.46366972C>ACA410569850PCNTc.*1494C>A (n.*1494C>A)
n.3084C>A
c.2998C>A (p.Gln1000Lys)
c.*2241C>A (n.*2241C>A)
n.3267C>A
c.2644C>A (p.Gln882Lys)
c.3079C>A (p.Gln1027Lys)
c.1882C>A (p.Gln628Lys)
c.778C>A (p.Gln260Lys)
21g.46366972C>GCA410569851PCNTc.*1494C>G (n.*1494C>G)
n.3084C>G
c.2998C>G (p.Gln1000Glu)
c.*2241C>G (n.*2241C>G)
n.3267C>G
c.2644C>G (p.Gln882Glu)
c.3079C>G (p.Gln1027Glu)
c.1882C>G (p.Gln628Glu)
c.778C>G (p.Gln260Glu)
 gnomAD v4
21g.46366972C>TCA410569854PCNTc.*1494C>T (n.*1494C>T)
n.3084C>T
c.2998C>T (p.Gln1000Ter)
c.*2241C>T (n.*2241C>T)
n.3267C>T
c.2644C>T (p.Gln882Ter)
c.3079C>T (p.Gln1027Ter)
c.1882C>T (p.Gln628Ter)
c.778C>T (p.Gln260Ter)
21g.46366973A>CCA410569858PCNTc.*1495A>C (n.*1495A>C)
n.3085A>C
c.2999A>C (p.Gln1000Pro)
c.*2242A>C (n.*2242A>C)
n.3268A>C
c.2645A>C (p.Gln882Pro)
c.3080A>C (p.Gln1027Pro)
c.1883A>C (p.Gln628Pro)
c.779A>C (p.Gln260Pro)
21g.46366973A>GCA410569861PCNTc.*1495A>G (n.*1495A>G)
n.3085A>G
c.2999A>G (p.Gln1000Arg)
c.*2242A>G (n.*2242A>G)
n.3268A>G
c.2645A>G (p.Gln882Arg)
c.3080A>G (p.Gln1027Arg)
c.1883A>G (p.Gln628Arg)
c.779A>G (p.Gln260Arg)
21g.46366973A>TCA410569863PCNTc.*1495A>T (n.*1495A>T)
n.3085A>T
c.2999A>T (p.Gln1000Leu)
c.*2242A>T (n.*2242A>T)
n.3268A>T
c.2645A>T (p.Gln882Leu)
c.3080A>T (p.Gln1027Leu)
c.1883A>T (p.Gln628Leu)
c.779A>T (p.Gln260Leu)
21g.46366974A=CA2392640200PCNTc.*1496A= (n.*1496A=)
n.3086A=
c.3000A= (p.Gln1000=)
c.*2243A= (n.*2243A=)
n.3269A=
c.2646A= (p.Gln882=)
c.3081A= (p.Gln1027=)
c.1884A= (p.Gln628=)
c.780A= (p.Gln260=)
21g.46366974A>CCA410569865PCNTc.*1496A>C (n.*1496A>C)
n.3086A>C
c.3000A>C (p.Gln1000His)
c.*2243A>C (n.*2243A>C)
n.3269A>C
c.2646A>C (p.Gln882His)
c.3081A>C (p.Gln1027His)
c.1884A>C (p.Gln628His)
c.780A>C (p.Gln260His)
21g.46366974A>GCA513173725PCNTc.*1496A>G (n.*1496A>G)
n.3086A>G
c.3000A>G (p.Gln1000=)
c.*2243A>G (n.*2243A>G)
n.3269A>G
c.2646A>G (p.Gln882=)
c.3081A>G (p.Gln1027=)
c.1884A>G (p.Gln628=)
c.780A>G (p.Gln260=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46366974A>TCA410569867PCNTc.*1496A>T (n.*1496A>T)
n.3086A>T
c.3000A>T (p.Gln1000His)
c.*2243A>T (n.*2243A>T)
n.3269A>T
c.2646A>T (p.Gln882His)
c.3081A>T (p.Gln1027His)
c.1884A>T (p.Gln628His)
c.780A>T (p.Gln260His)
21g.46366975C>ACA410569883PCNTc.*1497C>A (n.*1497C>A)
n.3087C>A
c.3001C>A (p.Leu1001Met)
c.*2244C>A (n.*2244C>A)
n.3270C>A
c.2647C>A (p.Leu883Met)
c.3082C>A (p.Leu1028Met)
c.1885C>A (p.Leu629Met)
c.781C>A (p.Leu261Met)
21g.46366975C=CA2392640202PCNTc.*1497C= (n.*1497C=)
n.3087C=
c.3001C= (p.Leu1001=)
c.*2244C= (n.*2244C=)
n.3270C=
c.2647C= (p.Leu883=)
c.3082C= (p.Leu1028=)
c.1885C= (p.Leu629=)
c.781C= (p.Leu261=)
21g.46366975C>GCA410569884PCNTc.*1497C>G (n.*1497C>G)
n.3087C>G
c.3001C>G (p.Leu1001Val)
c.*2244C>G (n.*2244C>G)
n.3270C>G
c.2647C>G (p.Leu883Val)
c.3082C>G (p.Leu1028Val)
c.1885C>G (p.Leu629Val)
c.781C>G (p.Leu261Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46366975C>TCA513173726PCNTc.*1497C>T (n.*1497C>T)
n.3087C>T
c.3001C>T (p.Leu1001=)
c.*2244C>T (n.*2244C>T)
n.3270C>T
c.2647C>T (p.Leu883=)
c.3082C>T (p.Leu1028=)
c.1885C>T (p.Leu629=)
c.781C>T (p.Leu261=)
 gnomAD v4
21g.46366975_46366977delinsCTGCA2392640201PCNTc.*1497_*1499delinsCTG (n.*1497_*1499delinsCTG)
n.3087_3089delinsCTG
c.3001_3003delinsCTG (p.Leu1001=)
c.*2244_*2246delinsCTG (n.*2244_*2246delinsCTG)
n.3270_3272delinsCTG
c.2647_2649delinsCTG (p.Leu883=)
c.3082_3084delinsCTG (p.Leu1028=)
c.1885_1887delinsCTG (p.Leu629=)
c.781_783delinsCTG (p.Leu261=)
21g.46366976T>ACA410569893PCNTc.*1498T>A (n.*1498T>A)
n.3088T>A
c.3002T>A (p.Leu1001Gln)
c.*2245T>A (n.*2245T>A)
n.3271T>A
c.2648T>A (p.Leu883Gln)
c.3083T>A (p.Leu1028Gln)
c.1886T>A (p.Leu629Gln)
c.782T>A (p.Leu261Gln)
21g.46366976T>CCA410569896PCNTc.*1498T>C (n.*1498T>C)
n.3088T>C
c.3002T>C (p.Leu1001Pro)
c.*2245T>C (n.*2245T>C)
n.3271T>C
c.2648T>C (p.Leu883Pro)
c.3083T>C (p.Leu1028Pro)
c.1886T>C (p.Leu629Pro)
c.782T>C (p.Leu261Pro)
21g.46366976T>GCA410569891PCNTc.*1498T>G (n.*1498T>G)
n.3088T>G
c.3002T>G (p.Leu1001Arg)
c.*2245T>G (n.*2245T>G)
n.3271T>G
c.2648T>G (p.Leu883Arg)
c.3083T>G (p.Leu1028Arg)
c.1886T>G (p.Leu629Arg)
c.782T>G (p.Leu261Arg)
21g.46366978_46366979delCA638499306PCNTc.*1500_*1501del (n.*1500_*1501del)
n.3090_3091del
c.3004_3005del (p.Trp1002GlufsTer?)
c.*2247_*2248del (n.*2247_*2248del)
n.3273_3274del
c.2650_2651del (p.Trp884GlufsTer?)
c.3085_3086del (p.Trp1029GlufsTer?)
c.1888_1889del (p.Trp630GlufsTer?)
c.784_785del (p.Trp262GlufsTer?)
 dbSNP gnomAD v2 gnomAD v4
21g.46366977G>ACA513173730PCNTc.*1499G>A (n.*1499G>A)
n.3089G>A
c.3003G>A (p.Leu1001=)
c.*2246G>A (n.*2246G>A)
n.3272G>A
c.2649G>A (p.Leu883=)
c.3084G>A (p.Leu1028=)
c.1887G>A (p.Leu629=)
c.783G>A (p.Leu261=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46366977G>CCA513173731PCNTc.*1499G>C (n.*1499G>C)
n.3089G>C
c.3003G>C (p.Leu1001=)
c.*2246G>C (n.*2246G>C)
n.3272G>C
c.2649G>C (p.Leu883=)
c.3084G>C (p.Leu1028=)
c.1887G>C (p.Leu629=)
c.783G>C (p.Leu261=)
21g.46366977G=CA2392640203PCNTc.*1499G= (n.*1499G=)
n.3089G=
c.3003G= (p.Leu1001=)
c.*2246G= (n.*2246G=)
n.3272G=
c.2649G= (p.Leu883=)
c.3084G= (p.Leu1028=)
c.1887G= (p.Leu629=)
c.783G= (p.Leu261=)
21g.46366977G>TCA513173732PCNTc.*1499G>T (n.*1499G>T)
n.3089G>T
c.3003G>T (p.Leu1001=)
c.*2246G>T (n.*2246G>T)
n.3272G>T
c.2649G>T (p.Leu883=)
c.3084G>T (p.Leu1028=)
c.1887G>T (p.Leu629=)
c.783G>T (p.Leu261=)
21g.46366978T>ACA410569899PCNTc.*1500T>A (n.*1500T>A)
n.3090T>A
c.3004T>A (p.Trp1002Arg)
c.*2247T>A (n.*2247T>A)
n.3273T>A
c.2650T>A (p.Trp884Arg)
c.3085T>A (p.Trp1029Arg)
c.1888T>A (p.Trp630Arg)
c.784T>A (p.Trp262Arg)
21g.46366978T>CCA410569901PCNTc.*1500T>C (n.*1500T>C)
n.3090T>C
c.3004T>C (p.Trp1002Arg)
c.*2247T>C (n.*2247T>C)
n.3273T>C
c.2650T>C (p.Trp884Arg)
c.3085T>C (p.Trp1029Arg)
c.1888T>C (p.Trp630Arg)
c.784T>C (p.Trp262Arg)
 dbSNP
21g.46366978T>GCA410569902PCNTc.*1500T>G (n.*1500T>G)
n.3090T>G
c.3004T>G (p.Trp1002Gly)
c.*2247T>G (n.*2247T>G)
n.3273T>G
c.2650T>G (p.Trp884Gly)
c.3085T>G (p.Trp1029Gly)
c.1888T>G (p.Trp630Gly)
c.784T>G (p.Trp262Gly)
21g.46366979G>ACA410569917PCNTc.*1501G>A (n.*1501G>A)
n.3091G>A
c.3005G>A (p.Trp1002Ter)
c.*2248G>A (n.*2248G>A)
n.3274G>A
c.2651G>A (p.Trp884Ter)
c.3086G>A (p.Trp1029Ter)
c.1889G>A (p.Trp630Ter)
c.785G>A (p.Trp262Ter)
 dbSNP
21g.46366979G>CCA410569919PCNTc.*1501G>C (n.*1501G>C)
n.3091G>C
c.3005G>C (p.Trp1002Ser)
c.*2248G>C (n.*2248G>C)
n.3274G>C
c.2651G>C (p.Trp884Ser)
c.3086G>C (p.Trp1029Ser)
c.1889G>C (p.Trp630Ser)
c.785G>C (p.Trp262Ser)
21g.46366979G>TCA410569922PCNTc.*1501G>T (n.*1501G>T)
n.3091G>T
c.3005G>T (p.Trp1002Leu)
c.*2248G>T (n.*2248G>T)
n.3274G>T
c.2651G>T (p.Trp884Leu)
c.3086G>T (p.Trp1029Leu)
c.1889G>T (p.Trp630Leu)
c.785G>T (p.Trp262Leu)
21g.46366980G>ACA410569925PCNTc.*1502G>A (n.*1502G>A)
n.3092G>A
c.3006G>A (p.Trp1002Ter)
c.*2249G>A (n.*2249G>A)
n.3275G>A
c.2652G>A (p.Trp884Ter)
c.3087G>A (p.Trp1029Ter)
c.1890G>A (p.Trp630Ter)
c.786G>A (p.Trp262Ter)
21g.46366980G>CCA410569928PCNTc.*1502G>C (n.*1502G>C)
n.3092G>C
c.3006G>C (p.Trp1002Cys)
c.*2249G>C (n.*2249G>C)
n.3275G>C
c.2652G>C (p.Trp884Cys)
c.3087G>C (p.Trp1029Cys)
c.1890G>C (p.Trp630Cys)
c.786G>C (p.Trp262Cys)
21g.46366980G=CA2392640204PCNTc.*1502G= (n.*1502G=)
n.3092G=
c.3006G= (p.Trp1002=)
c.*2249G= (n.*2249G=)
n.3275G=
c.2652G= (p.Trp884=)
c.3087G= (p.Trp1029=)
c.1890G= (p.Trp630=)
c.786G= (p.Trp262=)
21g.46366980G>TCA10079145PCNTc.*1502G>T (n.*1502G>T)
n.3092G>T
c.3006G>T (p.Trp1002Cys)
c.*2249G>T (n.*2249G>T)
n.3275G>T
c.2652G>T (p.Trp884Cys)
c.3087G>T (p.Trp1029Cys)
c.1890G>T (p.Trp630Cys)
c.786G>T (p.Trp262Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
21g.46366981A=CA2392640205PCNTc.*1503A= (n.*1503A=)
n.3093A=
c.3007A= (p.Lys1003=)
c.*2250A= (n.*2250A=)
n.3276A=
c.2653A= (p.Lys885=)
c.3088A= (p.Lys1030=)
c.1891A= (p.Lys631=)
c.787A= (p.Lys263=)
21g.46366981A>CCA410569933PCNTc.*1503A>C (n.*1503A>C)
n.3093A>C
c.3007A>C (p.Lys1003Gln)
c.*2250A>C (n.*2250A>C)
n.3276A>C
c.2653A>C (p.Lys885Gln)
c.3088A>C (p.Lys1030Gln)
c.1891A>C (p.Lys631Gln)
c.787A>C (p.Lys263Gln)
21g.46366981A>GCA10079146PCNTc.*1503A>G (n.*1503A>G)
n.3093A>G
c.3007A>G (p.Lys1003Glu)
c.*2250A>G (n.*2250A>G)
n.3276A>G
c.2653A>G (p.Lys885Glu)
c.3088A>G (p.Lys1030Glu)
c.1891A>G (p.Lys631Glu)
c.787A>G (p.Lys263Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.46366981A>TCA410569937PCNTc.*1503A>T (n.*1503A>T)
n.3093A>T
c.3007A>T (p.Lys1003Ter)
c.*2250A>T (n.*2250A>T)
n.3276A>T
c.2653A>T (p.Lys885Ter)
c.3088A>T (p.Lys1030Ter)
c.1891A>T (p.Lys631Ter)
c.787A>T (p.Lys263Ter)
21g.46366985delCA645615545PCNTc.*1507del (n.*1507del)
n.3097del
c.3011del (p.Lys1004ArgfsTer9)
c.*2254del (n.*2254del)
n.3280del
c.2657del (p.Lys886ArgfsTer9)
c.3092del (p.Lys1031ArgfsTer9)
c.1895del (p.Lys632ArgfsTer9)
c.791del (p.Lys264ArgfsTer9)
 COSMIC
21g.46366982A=CA2392640206PCNTc.*1504A= (n.*1504A=)
n.3094A=
c.3008A= (p.Lys1003=)
c.*2251A= (n.*2251A=)
n.3277A=
c.2654A= (p.Lys885=)
c.3089A= (p.Lys1030=)
c.1892A= (p.Lys631=)
c.788A= (p.Lys263=)
21g.46366982A>CCA10079147PCNTc.*1504A>C (n.*1504A>C)
n.3094A>C
c.3008A>C (p.Lys1003Thr)
c.*2251A>C (n.*2251A>C)
n.3277A>C
c.2654A>C (p.Lys885Thr)
c.3089A>C (p.Lys1030Thr)
c.1892A>C (p.Lys631Thr)
c.788A>C (p.Lys263Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46366982A>GCA410569945PCNTc.*1504A>G (n.*1504A>G)
n.3094A>G
c.3008A>G (p.Lys1003Arg)
c.*2251A>G (n.*2251A>G)
n.3277A>G
c.2654A>G (p.Lys885Arg)
c.3089A>G (p.Lys1030Arg)
c.1892A>G (p.Lys631Arg)
c.788A>G (p.Lys263Arg)
21g.46366982A>TCA410569941PCNTc.*1504A>T (n.*1504A>T)
n.3094A>T
c.3008A>T (p.Lys1003Ile)
c.*2251A>T (n.*2251A>T)
n.3277A>T
c.2654A>T (p.Lys885Ile)
c.3089A>T (p.Lys1030Ile)
c.1892A>T (p.Lys631Ile)
c.788A>T (p.Lys263Ile)
21g.46366983A=CA2392640207PCNTc.*1505A= (n.*1505A=)
n.3095A=
c.3009A= (p.Lys1003=)
c.*2252A= (n.*2252A=)
n.3278A=
c.2655A= (p.Lys885=)
c.3090A= (p.Lys1030=)
c.1893A= (p.Lys631=)
c.789A= (p.Lys263=)
21g.46366983A>CCA410569948PCNTc.*1505A>C (n.*1505A>C)
n.3095A>C
c.3009A>C (p.Lys1003Asn)
c.*2252A>C (n.*2252A>C)
n.3278A>C
c.2655A>C (p.Lys885Asn)
c.3090A>C (p.Lys1030Asn)
c.1893A>C (p.Lys631Asn)
c.789A>C (p.Lys263Asn)
21g.46366983A>GCA513173735PCNTc.*1505A>G (n.*1505A>G)
n.3095A>G
c.3009A>G (p.Lys1003=)
c.*2252A>G (n.*2252A>G)
n.3278A>G
c.2655A>G (p.Lys885=)
c.3090A>G (p.Lys1030=)
c.1893A>G (p.Lys631=)
c.789A>G (p.Lys263=)
 ClinVar dbSNP gnomAD v4
21g.46366983A>TCA410569950PCNTc.*1505A>T (n.*1505A>T)
n.3095A>T
c.3009A>T (p.Lys1003Asn)
c.*2252A>T (n.*2252A>T)
n.3278A>T
c.2655A>T (p.Lys885Asn)
c.3090A>T (p.Lys1030Asn)
c.1893A>T (p.Lys631Asn)
c.789A>T (p.Lys263Asn)
21g.46366984A>CCA410569954PCNTc.*1506A>C (n.*1506A>C)
n.3096A>C
c.3010A>C (p.Lys1004Gln)
c.*2253A>C (n.*2253A>C)
n.3279A>C
c.2656A>C (p.Lys886Gln)
c.3091A>C (p.Lys1031Gln)
c.1894A>C (p.Lys632Gln)
c.790A>C (p.Lys264Gln)
21g.46366984A>GCA410569956PCNTc.*1506A>G (n.*1506A>G)
n.3096A>G
c.3010A>G (p.Lys1004Glu)
c.*2253A>G (n.*2253A>G)
n.3279A>G
c.2656A>G (p.Lys886Glu)
c.3091A>G (p.Lys1031Glu)
c.1894A>G (p.Lys632Glu)
c.790A>G (p.Lys264Glu)
21g.46366984A>TCA410569959PCNTc.*1506A>T (n.*1506A>T)
n.3096A>T
c.3010A>T (p.Lys1004Ter)
c.*2253A>T (n.*2253A>T)
n.3279A>T
c.2656A>T (p.Lys886Ter)
c.3091A>T (p.Lys1031Ter)
c.1894A>T (p.Lys632Ter)
c.790A>T (p.Lys264Ter)
 ClinVar
21g.46366985A>CCA410569968PCNTc.*1507A>C (n.*1507A>C)
n.3097A>C
c.3011A>C (p.Lys1004Thr)
c.*2254A>C (n.*2254A>C)
n.3280A>C
c.2657A>C (p.Lys886Thr)
c.3092A>C (p.Lys1031Thr)
c.1895A>C (p.Lys632Thr)
c.791A>C (p.Lys264Thr)
21g.46366985A>GCA410569961PCNTc.*1507A>G (n.*1507A>G)
n.3097A>G
c.3011A>G (p.Lys1004Arg)
c.*2254A>G (n.*2254A>G)
n.3280A>G
c.2657A>G (p.Lys886Arg)
c.3092A>G (p.Lys1031Arg)
c.1895A>G (p.Lys632Arg)
c.791A>G (p.Lys264Arg)
21g.46366985A>TCA410569964PCNTc.*1507A>T (n.*1507A>T)
n.3097A>T
c.3011A>T (p.Lys1004Met)
c.*2254A>T (n.*2254A>T)
n.3280A>T
c.2657A>T (p.Lys886Met)
c.3092A>T (p.Lys1031Met)
c.1895A>T (p.Lys632Met)
c.791A>T (p.Lys264Met)
21g.46366986G>ACA513173737PCNTc.*1508G>A (n.*1508G>A)
n.3098G>A
c.3012G>A (p.Lys1004=)
c.*2255G>A (n.*2255G>A)
n.3281G>A
c.2658G>A (p.Lys886=)
c.3093G>A (p.Lys1031=)
c.1896G>A (p.Lys632=)
c.792G>A (p.Lys264=)
21g.46366986G>CCA410569970PCNTc.*1508G>C (n.*1508G>C)
n.3098G>C
c.3012G>C (p.Lys1004Asn)
c.*2255G>C (n.*2255G>C)
n.3281G>C
c.2658G>C (p.Lys886Asn)
c.3093G>C (p.Lys1031Asn)
c.1896G>C (p.Lys632Asn)
c.792G>C (p.Lys264Asn)
 gnomAD v4
21g.46366986G>TCA410569973PCNTc.*1508G>T (n.*1508G>T)
n.3098G>T
c.3012G>T (p.Lys1004Asn)
c.*2255G>T (n.*2255G>T)
n.3281G>T
c.2658G>T (p.Lys886Asn)
c.3093G>T (p.Lys1031Asn)
c.1896G>T (p.Lys632Asn)
c.792G>T (p.Lys264Asn)
21g.46366987G>ACA410569977PCNTc.*1509G>A (n.*1509G>A)
n.3099G>A
c.3013G>A (p.Asp1005Asn)
c.*2256G>A (n.*2256G>A)
n.3282G>A
c.2659G>A (p.Asp887Asn)
c.3094G>A (p.Asp1032Asn)
c.1897G>A (p.Asp633Asn)
c.793G>A (p.Asp265Asn)
21g.46366987G>CCA410569980PCNTc.*1509G>C (n.*1509G>C)
n.3099G>C
c.3013G>C (p.Asp1005His)
c.*2256G>C (n.*2256G>C)
n.3282G>C
c.2659G>C (p.Asp887His)
c.3094G>C (p.Asp1032His)
c.1897G>C (p.Asp633His)
c.793G>C (p.Asp265His)
21g.46366987G>TCA410569982PCNTc.*1509G>T (n.*1509G>T)
n.3099G>T
c.3013G>T (p.Asp1005Tyr)
c.*2256G>T (n.*2256G>T)
n.3282G>T
c.2659G>T (p.Asp887Tyr)
c.3094G>T (p.Asp1032Tyr)
c.1897G>T (p.Asp633Tyr)
c.793G>T (p.Asp265Tyr)
 COSMIC
21g.46366988A>CCA410569984PCNTc.*1510A>C (n.*1510A>C)
n.3100A>C
c.3014A>C (p.Asp1005Ala)
c.*2257A>C (n.*2257A>C)
n.3283A>C
c.2660A>C (p.Asp887Ala)
c.3095A>C (p.Asp1032Ala)
c.1898A>C (p.Asp633Ala)
c.794A>C (p.Asp265Ala)
21g.46366988A>GCA410569988PCNTc.*1510A>G (n.*1510A>G)
n.3100A>G
c.3014A>G (p.Asp1005Gly)
c.*2257A>G (n.*2257A>G)
n.3283A>G
c.2660A>G (p.Asp887Gly)
c.3095A>G (p.Asp1032Gly)
c.1898A>G (p.Asp633Gly)
c.794A>G (p.Asp265Gly)
21g.46366988A>TCA410569986PCNTc.*1510A>T (n.*1510A>T)
n.3100A>T
c.3014A>T (p.Asp1005Val)
c.*2257A>T (n.*2257A>T)
n.3283A>T
c.2660A>T (p.Asp887Val)
c.3095A>T (p.Asp1032Val)
c.1898A>T (p.Asp633Val)
c.794A>T (p.Asp265Val)
21g.46366988_46366990delinsACTCA2392640208PCNTc.*1510_*1512delinsACT (n.*1510_*1512delinsACT)
n.3100_3102delinsACT
c.3014_3016delinsACT (p.Asp1005=)
c.*2257_*2259delinsACT (n.*2257_*2259delinsACT)
n.3283_3285delinsACT
c.2660_2662delinsACT (p.Asp887=)
c.3095_3097delinsACT (p.Asp1032=)
c.1898_1900delinsACT (p.Asp633=)
c.794_796delinsACT (p.Asp265=)
21g.46366989C>ACA410569989PCNTc.*1511C>A (n.*1511C>A)
n.3101C>A
c.3015C>A (p.Asp1005Glu)
c.*2258C>A (n.*2258C>A)
n.3284C>A
c.2661C>A (p.Asp887Glu)
c.3096C>A (p.Asp1032Glu)
c.1899C>A (p.Asp633Glu)
c.795C>A (p.Asp265Glu)
21g.46366989C>GCA410569994PCNTc.*1511C>G (n.*1511C>G)
n.3101C>G
c.3015C>G (p.Asp1005Glu)
c.*2258C>G (n.*2258C>G)
n.3284C>G
c.2661C>G (p.Asp887Glu)
c.3096C>G (p.Asp1032Glu)
c.1899C>G (p.Asp633Glu)
c.795C>G (p.Asp265Glu)
21g.46366989C>TCA513173740PCNTc.*1511C>T (n.*1511C>T)
n.3101C>T
c.3015C>T (p.Asp1005=)
c.*2258C>T (n.*2258C>T)
n.3284C>T
c.2661C>T (p.Asp887=)
c.3096C>T (p.Asp1032=)
c.1899C>T (p.Asp633=)
c.795C>T (p.Asp265=)
21g.46366993_46366994delCA10079148PCNTc.*1515_*1516del (n.*1515_*1516del)
n.3105_3106del
c.3019_3020del (p.Leu1007SerfsTer?)
c.*2262_*2263del (n.*2262_*2263del)
n.3288_3289del
c.2665_2666del (p.Leu889SerfsTer?)
c.3100_3101del (p.Leu1034SerfsTer?)
c.1903_1904del (p.Leu635SerfsTer?)
c.799_800del (p.Leu267SerfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46366990T>ACA410569998PCNTc.*1512T>A (n.*1512T>A)
n.3102T>A
c.3016T>A (p.Ser1006Thr)
c.*2259T>A (n.*2259T>A)
n.3285T>A
c.2662T>A (p.Ser888Thr)
c.3097T>A (p.Ser1033Thr)
c.1900T>A (p.Ser634Thr)
c.796T>A (p.Ser266Thr)
21g.46366990T>CCA10079149PCNTc.*1512T>C (n.*1512T>C)
n.3102T>C
c.3016T>C (p.Ser1006Pro)
c.*2259T>C (n.*2259T>C)
n.3285T>C
c.2662T>C (p.Ser888Pro)
c.3097T>C (p.Ser1033Pro)
c.1900T>C (p.Ser634Pro)
c.796T>C (p.Ser266Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46366990T>GCA410570001PCNTc.*1512T>G (n.*1512T>G)
n.3102T>G
c.3016T>G (p.Ser1006Ala)
c.*2259T>G (n.*2259T>G)
n.3285T>G
c.2662T>G (p.Ser888Ala)
c.3097T>G (p.Ser1033Ala)
c.1900T>G (p.Ser634Ala)
c.796T>G (p.Ser266Ala)
21g.46366990T=CA2392640209PCNTc.*1512T= (n.*1512T=)
n.3102T=
c.3016T= (p.Ser1006=)
c.*2259T= (n.*2259T=)
n.3285T=
c.2662T= (p.Ser888=)
c.3097T= (p.Ser1033=)
c.1900T= (p.Ser634=)
c.796T= (p.Ser266=)
21g.46366991C>ACA410570004PCNTc.*1513C>A (n.*1513C>A)
n.3103C>A
c.3017C>A (p.Ser1006Tyr)
c.*2260C>A (n.*2260C>A)
n.3286C>A
c.2663C>A (p.Ser888Tyr)
c.3098C>A (p.Ser1033Tyr)
c.1901C>A (p.Ser634Tyr)
c.797C>A (p.Ser266Tyr)
21g.46366991C=CA2392640210PCNTc.*1513C= (n.*1513C=)
n.3103C=
c.3017C= (p.Ser1006=)
c.*2260C= (n.*2260C=)
n.3286C=
c.2663C= (p.Ser888=)
c.3098C= (p.Ser1033=)
c.1901C= (p.Ser634=)
c.797C= (p.Ser266=)
21g.46366991C>GCA10079150PCNTc.*1513C>G (n.*1513C>G)
n.3103C>G
c.3017C>G (p.Ser1006Cys)
c.*2260C>G (n.*2260C>G)
n.3286C>G
c.2663C>G (p.Ser888Cys)
c.3098C>G (p.Ser1033Cys)
c.1901C>G (p.Ser634Cys)
c.797C>G (p.Ser266Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46366991C>TCA410570008PCNTc.*1513C>T (n.*1513C>T)
n.3103C>T
c.3017C>T (p.Ser1006Phe)
c.*2260C>T (n.*2260C>T)
n.3286C>T
c.2663C>T (p.Ser888Phe)
c.3098C>T (p.Ser1033Phe)
c.1901C>T (p.Ser634Phe)
c.797C>T (p.Ser266Phe)
 COSMIC

Number of alleles fetched