Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197093083delCA2649661166ASPMn.2550del
c.9263del (p.Ala3088AspfsTer7)
c.9485del (p.Ala3162AspfsTer7)
c.4508del (p.Ala1503AspfsTer7)
c.2258del (p.Ala753AspfsTer7)
c.3221del (p.Ala1074AspfsTer7)
 gnomAD v4
1g.197093083G>ACA344006774ASPMn.2550C>T
c.9263C>T (p.Ala3088Val)
c.9485C>T (p.Ala3162Val)
c.4508C>T (p.Ala1503Val)
c.2258C>T (p.Ala753Val)
c.3221C>T (p.Ala1074Val)
 gnomAD v4
1g.197093083G>CCA344006776ASPMn.2550C>G
c.9263C>G (p.Ala3088Gly)
c.9485C>G (p.Ala3162Gly)
c.4508C>G (p.Ala1503Gly)
c.2258C>G (p.Ala753Gly)
c.3221C>G (p.Ala1074Gly)
1g.197093083G>TCA344006778ASPMn.2550C>A
c.9263C>A (p.Ala3088Glu)
c.9485C>A (p.Ala3162Glu)
c.4508C>A (p.Ala1503Glu)
c.2258C>A (p.Ala753Glu)
c.3221C>A (p.Ala1074Glu)
1g.197093084delCA2739275491ASPMn.2549del
c.9262del (p.Ala3088HisfsTer7)
c.9484del (p.Ala3162HisfsTer7)
c.4507del (p.Ala1503HisfsTer7)
c.2257del (p.Ala753HisfsTer7)
c.3220del (p.Ala1074HisfsTer7)
 ClinVar
1g.197093084C>ACA344006782ASPMn.2549G>T
c.9262G>T (p.Ala3088Ser)
c.9484G>T (p.Ala3162Ser)
c.4507G>T (p.Ala1503Ser)
c.2257G>T (p.Ala753Ser)
c.3220G>T (p.Ala1074Ser)
1g.197093084C>GCA344006783ASPMn.2549G>C
c.9262G>C (p.Ala3088Pro)
c.9484G>C (p.Ala3162Pro)
c.4507G>C (p.Ala1503Pro)
c.2257G>C (p.Ala753Pro)
c.3220G>C (p.Ala1074Pro)
1g.197093084C>TCA344006781ASPMn.2549G>A
c.9262G>A (p.Ala3088Thr)
c.9484G>A (p.Ala3162Thr)
c.4507G>A (p.Ala1503Thr)
c.2257G>A (p.Ala753Thr)
c.3220G>A (p.Ala1074Thr)
 COSMIC
1g.197093085T>ACA344006784ASPMn.2548A>T
c.9261A>T (p.Gln3087His)
c.9483A>T (p.Gln3161His)
c.4506A>T (p.Gln1502His)
c.2256A>T (p.Gln752His)
c.3219A>T (p.Gln1073His)
1g.197093085T>CCA422672823ASPMn.2548A>G
c.9261A>G (p.Gln3087=)
c.9483A>G (p.Gln3161=)
c.4506A>G (p.Gln1502=)
c.2256A>G (p.Gln752=)
c.3219A>G (p.Gln1073=)
1g.197093085T>GCA344006785ASPMn.2548A>C
c.9261A>C (p.Gln3087His)
c.9483A>C (p.Gln3161His)
c.4506A>C (p.Gln1502His)
c.2256A>C (p.Gln752His)
c.3219A>C (p.Gln1073His)
1g.197093086T>ACA344006786ASPMn.2547A>T
c.9260A>T (p.Gln3087Leu)
c.9482A>T (p.Gln3161Leu)
c.4505A>T (p.Gln1502Leu)
c.2255A>T (p.Gln752Leu)
c.3218A>T (p.Gln1073Leu)
1g.197093086T>CCA344006787ASPMn.2547A>G
c.9260A>G (p.Gln3087Arg)
c.9482A>G (p.Gln3161Arg)
c.4505A>G (p.Gln1502Arg)
c.2255A>G (p.Gln752Arg)
c.3218A>G (p.Gln1073Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197093086T>GCA1309004ASPMn.2547A>C
c.9260A>C (p.Gln3087Pro)
c.9482A>C (p.Gln3161Pro)
c.4505A>C (p.Gln1502Pro)
c.2255A>C (p.Gln752Pro)
c.3218A>C (p.Gln1073Pro)
 dbSNP ExAC gnomAD v4
1g.197093086T=CA1217926679ASPMn.2547A=
c.9260A= (p.Gln3087=)
c.9482A= (p.Gln3161=)
c.4505A= (p.Gln1502=)
c.2255A= (p.Gln752=)
c.3218A= (p.Gln1073=)
1g.197093087G>ACA344006789ASPMn.2546C>T
c.9259C>T (p.Gln3087Ter)
c.9481C>T (p.Gln3161Ter)
c.4504C>T (p.Gln1502Ter)
c.2254C>T (p.Gln752Ter)
c.3217C>T (p.Gln1073Ter)
1g.197093087G>CCA344006788ASPMn.2546C>G
c.9259C>G (p.Gln3087Glu)
c.9481C>G (p.Gln3161Glu)
c.4504C>G (p.Gln1502Glu)
c.2254C>G (p.Gln752Glu)
c.3217C>G (p.Gln1073Glu)
1g.197093087G=CA1145293243ASPMn.2546C=
c.9259C= (p.Gln3087=)
c.9481C= (p.Gln3161=)
c.4504C= (p.Gln1502=)
c.2254C= (p.Gln752=)
c.3217C= (p.Gln1073=)
1g.197093087G>TCA35863366ASPMn.2546C>A
c.9259C>A (p.Gln3087Lys)
c.9481C>A (p.Gln3161Lys)
c.4504C>A (p.Gln1502Lys)
c.2254C>A (p.Gln752Lys)
c.3217C>A (p.Gln1073Lys)
 dbSNP gnomAD v4
1g.197093088T>ACA422672833ASPMn.2545A>T
c.9258A>T (p.Leu3086=)
c.9480A>T (p.Leu3160=)
c.4503A>T (p.Leu1501=)
c.2253A>T (p.Leu751=)
c.3216A>T (p.Leu1072=)
1g.197093088T>CCA422672837ASPMn.2545A>G
c.9258A>G (p.Leu3086=)
c.9480A>G (p.Leu3160=)
c.4503A>G (p.Leu1501=)
c.2253A>G (p.Leu751=)
c.3216A>G (p.Leu1072=)
1g.197093088T>GCA422672835ASPMn.2545A>C
c.9258A>C (p.Leu3086=)
c.9480A>C (p.Leu3160=)
c.4503A>C (p.Leu1501=)
c.2253A>C (p.Leu751=)
c.3216A>C (p.Leu1072=)
1g.197093089A=CA1217926680ASPMn.2544T=
c.9257T= (p.Leu3086=)
c.9479T= (p.Leu3160=)
c.4502T= (p.Leu1501=)
c.2252T= (p.Leu751=)
c.3215T= (p.Leu1072=)
1g.197093089A>CCA344006790ASPMn.2544T>G
c.9257T>G (p.Leu3086Arg)
c.9479T>G (p.Leu3160Arg)
c.4502T>G (p.Leu1501Arg)
c.2252T>G (p.Leu751Arg)
c.3215T>G (p.Leu1072Arg)
1g.197093089A>GCA344006791ASPMn.2544T>C
c.9257T>C (p.Leu3086Pro)
c.9479T>C (p.Leu3160Pro)
c.4502T>C (p.Leu1501Pro)
c.2252T>C (p.Leu751Pro)
c.3215T>C (p.Leu1072Pro)
 dbSNP gnomAD v2
1g.197093089A>TCA344006792ASPMn.2544T>A
c.9257T>A (p.Leu3086Gln)
c.9479T>A (p.Leu3160Gln)
c.4502T>A (p.Leu1501Gln)
c.2252T>A (p.Leu751Gln)
c.3215T>A (p.Leu1072Gln)
1g.197093090G>ACA422672843ASPMn.2543C>T
c.9256C>T (p.Leu3086=)
c.9478C>T (p.Leu3160=)
c.4501C>T (p.Leu1501=)
c.2251C>T (p.Leu751=)
c.3214C>T (p.Leu1072=)
1g.197093090G>CCA344006793ASPMn.2543C>G
c.9256C>G (p.Leu3086Val)
c.9478C>G (p.Leu3160Val)
c.4501C>G (p.Leu1501Val)
c.2251C>G (p.Leu751Val)
c.3214C>G (p.Leu1072Val)
1g.197093090G>TCA344006794ASPMn.2543C>A
c.9256C>A (p.Leu3086Ile)
c.9478C>A (p.Leu3160Ile)
c.4501C>A (p.Leu1501Ile)
c.2251C>A (p.Leu751Ile)
c.3214C>A (p.Leu1072Ile)
1g.197093091delCA2573975228ASPMn.2543del
c.9256del (p.Leu3086TyrfsTer9)
c.9478del (p.Leu3160TyrfsTer9)
c.4501del (p.Leu1501TyrfsTer9)
c.2251del (p.Leu751TyrfsTer9)
c.3214del (p.Leu1072TyrfsTer9)
1g.197093091G>ACA422672847ASPMn.2542C>T
c.9255C>T (p.Ile3085=)
c.9477C>T (p.Ile3159=)
c.4500C>T (p.Ile1500=)
c.2250C>T (p.Ile750=)
c.3213C>T (p.Ile1071=)
 dbSNP gnomAD v2
1g.197093091G>CCA344006795ASPMn.2542C>G
c.9255C>G (p.Ile3085Met)
c.9477C>G (p.Ile3159Met)
c.4500C>G (p.Ile1500Met)
c.2250C>G (p.Ile750Met)
c.3213C>G (p.Ile1071Met)
1g.197093091G=CA1217926681ASPMn.2542C=
c.9255C= (p.Ile3085=)
c.9477C= (p.Ile3159=)
c.4500C= (p.Ile1500=)
c.2250C= (p.Ile750=)
c.3213C= (p.Ile1071=)
1g.197093091G>TCA422672850ASPMn.2542C>A
c.9255C>A (p.Ile3085=)
c.9477C>A (p.Ile3159=)
c.4500C>A (p.Ile1500=)
c.2250C>A (p.Ile750=)
c.3213C>A (p.Ile1071=)
1g.197093092A=CA1141599101ASPMn.2541T=
c.9254T= (p.Ile3085=)
c.9476T= (p.Ile3159=)
c.4499T= (p.Ile1500=)
c.2249T= (p.Ile750=)
c.3212T= (p.Ile1071=)
1g.197093092A>CCA344006796ASPMn.2541T>G
c.9254T>G (p.Ile3085Ser)
c.9476T>G (p.Ile3159Ser)
c.4499T>G (p.Ile1500Ser)
c.2249T>G (p.Ile750Ser)
c.3212T>G (p.Ile1071Ser)
1g.197093092A>GCA171273ASPMn.2541T>C
c.9254T>C (p.Ile3085Thr)
c.9476T>C (p.Ile3159Thr)
c.4499T>C (p.Ile1500Thr)
c.2249T>C (p.Ile750Thr)
c.3212T>C (p.Ile1071Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197093092A>TCA344006797ASPMn.2541T>A
c.9254T>A (p.Ile3085Asn)
c.9476T>A (p.Ile3159Asn)
c.4499T>A (p.Ile1500Asn)
c.2249T>A (p.Ile750Asn)
c.3212T>A (p.Ile1071Asn)
1g.197093093T>ACA344006798ASPMn.2540A>T
c.9253A>T (p.Ile3085Phe)
c.9475A>T (p.Ile3159Phe)
c.4498A>T (p.Ile1500Phe)
c.2248A>T (p.Ile750Phe)
c.3211A>T (p.Ile1071Phe)
1g.197093093T>CCA344006799ASPMn.2540A>G
c.9253A>G (p.Ile3085Val)
c.9475A>G (p.Ile3159Val)
c.4498A>G (p.Ile1500Val)
c.2248A>G (p.Ile750Val)
c.3211A>G (p.Ile1071Val)
 gnomAD v4
1g.197093093T>GCA344006800ASPMn.2540A>C
c.9253A>C (p.Ile3085Leu)
c.9475A>C (p.Ile3159Leu)
c.4498A>C (p.Ile1500Leu)
c.2248A>C (p.Ile750Leu)
c.3211A>C (p.Ile1071Leu)
1g.197093094A>CCA422672858ASPMn.2539T>G
c.9252T>G (p.Val3084=)
c.9474T>G (p.Val3158=)
c.4497T>G (p.Val1499=)
c.2247T>G (p.Val749=)
c.3210T>G (p.Val1070=)
1g.197093094A>GCA422672860ASPMn.2539T>C
c.9252T>C (p.Val3084=)
c.9474T>C (p.Val3158=)
c.4497T>C (p.Val1499=)
c.2247T>C (p.Val749=)
c.3210T>C (p.Val1070=)
1g.197093094A>TCA422672863ASPMn.2539T>A
c.9252T>A (p.Val3084=)
c.9474T>A (p.Val3158=)
c.4497T>A (p.Val1499=)
c.2247T>A (p.Val749=)
c.3210T>A (p.Val1070=)
 ClinVar
1g.197093095A>CCA344006801ASPMn.2538T>G
c.9251T>G (p.Val3084Gly)
c.9473T>G (p.Val3158Gly)
c.4496T>G (p.Val1499Gly)
c.2246T>G (p.Val749Gly)
c.3209T>G (p.Val1070Gly)
1g.197093095A>GCA344006802ASPMn.2538T>C
c.9251T>C (p.Val3084Ala)
c.9473T>C (p.Val3158Ala)
c.4496T>C (p.Val1499Ala)
c.2246T>C (p.Val749Ala)
c.3209T>C (p.Val1070Ala)
1g.197093095A>TCA344006803ASPMn.2538T>A
c.9251T>A (p.Val3084Asp)
c.9473T>A (p.Val3158Asp)
c.4496T>A (p.Val1499Asp)
c.2246T>A (p.Val749Asp)
c.3209T>A (p.Val1070Asp)
1g.197093096C>ACA344006804ASPMn.2537G>T
c.9250G>T (p.Val3084Phe)
c.9472G>T (p.Val3158Phe)
c.4495G>T (p.Val1499Phe)
c.2245G>T (p.Val749Phe)
c.3208G>T (p.Val1070Phe)
1g.197093096C=CA1141659807ASPMn.2537G=
c.9250G= (p.Val3084=)
c.9472G= (p.Val3158=)
c.4495G= (p.Val1499=)
c.2245G= (p.Val749=)
c.3208G= (p.Val1070=)
1g.197093096C>GCA344006805ASPMn.2537G>C
c.9250G>C (p.Val3084Leu)
c.9472G>C (p.Val3158Leu)
c.4495G>C (p.Val1499Leu)
c.2245G>C (p.Val749Leu)
c.3208G>C (p.Val1070Leu)
1g.197093096C>TCA1309005ASPMn.2537G>A
c.9250G>A (p.Val3084Ile)
c.9472G>A (p.Val3158Ile)
c.4495G>A (p.Val1499Ile)
c.2245G>A (p.Val749Ile)
c.3208G>A (p.Val1070Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197093097T>ACA422672871ASPMn.2536A>T
c.9249A>T (p.Thr3083=)
c.9471A>T (p.Thr3157=)
c.4494A>T (p.Thr1498=)
c.2244A>T (p.Thr748=)
c.3207A>T (p.Thr1069=)
1g.197093097T>CCA422672873ASPMn.2536A>G
c.9249A>G (p.Thr3083=)
c.9471A>G (p.Thr3157=)
c.4494A>G (p.Thr1498=)
c.2244A>G (p.Thr748=)
c.3207A>G (p.Thr1069=)
1g.197093097T>GCA422672874ASPMn.2536A>C
c.9249A>C (p.Thr3083=)
c.9471A>C (p.Thr3157=)
c.4494A>C (p.Thr1498=)
c.2244A>C (p.Thr748=)
c.3207A>C (p.Thr1069=)
1g.197093098G>ACA344006806ASPMn.2535C>T
c.9248C>T (p.Thr3083Ile)
c.9470C>T (p.Thr3157Ile)
c.4493C>T (p.Thr1498Ile)
c.2243C>T (p.Thr748Ile)
c.3206C>T (p.Thr1069Ile)
 gnomAD v4
1g.197093098G>CCA344006807ASPMn.2535C>G
c.9248C>G (p.Thr3083Arg)
c.9470C>G (p.Thr3157Arg)
c.4493C>G (p.Thr1498Arg)
c.2243C>G (p.Thr748Arg)
c.3206C>G (p.Thr1069Arg)
1g.197093098G>TCA344006808ASPMn.2535C>A
c.9248C>A (p.Thr3083Lys)
c.9470C>A (p.Thr3157Lys)
c.4493C>A (p.Thr1498Lys)
c.2243C>A (p.Thr748Lys)
c.3206C>A (p.Thr1069Lys)
1g.197093099T>ACA344006814ASPMn.2534A>T
c.9247A>T (p.Thr3083Ser)
c.9469A>T (p.Thr3157Ser)
c.4492A>T (p.Thr1498Ser)
c.2242A>T (p.Thr748Ser)
c.3205A>T (p.Thr1069Ser)
1g.197093099T>CCA344006816ASPMn.2534A>G
c.9247A>G (p.Thr3083Ala)
c.9469A>G (p.Thr3157Ala)
c.4492A>G (p.Thr1498Ala)
c.2242A>G (p.Thr748Ala)
c.3205A>G (p.Thr1069Ala)
 dbSNP
1g.197093099T>GCA344006812ASPMn.2534A>C
c.9247A>C (p.Thr3083Pro)
c.9469A>C (p.Thr3157Pro)
c.4492A>C (p.Thr1498Pro)
c.2242A>C (p.Thr748Pro)
c.3205A>C (p.Thr1069Pro)
1g.197093099T=CA1217926682ASPMn.2534A=
c.9247A= (p.Thr3083=)
c.9469A= (p.Thr3157=)
c.4492A= (p.Thr1498=)
c.2242A= (p.Thr748=)
c.3205A= (p.Thr1069=)
1g.197093100A=CA1143457821ASPMn.2533T=
c.9246T= (p.Ser3082=)
c.9468T= (p.Ser3156=)
c.4491T= (p.Ser1497=)
c.2241T= (p.Ser747=)
c.3204T= (p.Ser1068=)
1g.197093100A>CCA422672883ASPMn.2533T>G
c.9246T>G (p.Ser3082=)
c.9468T>G (p.Ser3156=)
c.4491T>G (p.Ser1497=)
c.2241T>G (p.Ser747=)
c.3204T>G (p.Ser1068=)
 dbSNP gnomAD v3 gnomAD v4
1g.197093100A>GCA1309006ASPMn.2533T>C
c.9246T>C (p.Ser3082=)
c.9468T>C (p.Ser3156=)
c.4491T>C (p.Ser1497=)
c.2241T>C (p.Ser747=)
c.3204T>C (p.Ser1068=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197093100A>TCA422672886ASPMn.2533T>A
c.9246T>A (p.Ser3082=)
c.9468T>A (p.Ser3156=)
c.4491T>A (p.Ser1497=)
c.2241T>A (p.Ser747=)
c.3204T>A (p.Ser1068=)
1g.197093100dupCA645534325ASPMn.2533dup
c.9246dup (p.Thr3083TyrfsTer?)
c.9468dup (p.Thr3157TyrfsTer?)
c.4491dup (p.Thr1498TyrfsTer?)
c.2241dup (p.Thr748TyrfsTer?)
c.3204dup (p.Thr1069TyrfsTer?)
 COSMIC
1g.197093101G>ACA344006823ASPMn.2532C>T
c.9245C>T (p.Ser3082Phe)
c.9467C>T (p.Ser3156Phe)
c.4490C>T (p.Ser1497Phe)
c.2240C>T (p.Ser747Phe)
c.3203C>T (p.Ser1068Phe)
1g.197093101G>CCA344006828ASPMn.2532C>G
c.9245C>G (p.Ser3082Cys)
c.9467C>G (p.Ser3156Cys)
c.4490C>G (p.Ser1497Cys)
c.2240C>G (p.Ser747Cys)
c.3203C>G (p.Ser1068Cys)
 dbSNP
1g.197093101G=CA1217926683ASPMn.2532C=
c.9245C= (p.Ser3082=)
c.9467C= (p.Ser3156=)
c.4490C= (p.Ser1497=)
c.2240C= (p.Ser747=)
c.3203C= (p.Ser1068=)
1g.197093101G>TCA344006825ASPMn.2532C>A
c.9245C>A (p.Ser3082Tyr)
c.9467C>A (p.Ser3156Tyr)
c.4490C>A (p.Ser1497Tyr)
c.2240C>A (p.Ser747Tyr)
c.3203C>A (p.Ser1068Tyr)
 dbSNP gnomAD v3 gnomAD v4
1g.197093102A=CA1217926684ASPMn.2531T=
c.9244T= (p.Ser3082=)
c.9466T= (p.Ser3156=)
c.4489T= (p.Ser1497=)
c.2239T= (p.Ser747=)
c.3202T= (p.Ser1068=)
1g.197093102A>CCA344006830ASPMn.2531T>G
c.9244T>G (p.Ser3082Ala)
c.9466T>G (p.Ser3156Ala)
c.4489T>G (p.Ser1497Ala)
c.2239T>G (p.Ser747Ala)
c.3202T>G (p.Ser1068Ala)
1g.197093102A>GCA344006832ASPMn.2531T>C
c.9244T>C (p.Ser3082Pro)
c.9466T>C (p.Ser3156Pro)
c.4489T>C (p.Ser1497Pro)
c.2239T>C (p.Ser747Pro)
c.3202T>C (p.Ser1068Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.197093102A>TCA344006835ASPMn.2531T>A
c.9244T>A (p.Ser3082Thr)
c.9466T>A (p.Ser3156Thr)
c.4489T>A (p.Ser1497Thr)
c.2239T>A (p.Ser747Thr)
c.3202T>A (p.Ser1068Thr)
1g.197093103T>ACA344006839ASPMn.2530A>T
c.9243A>T (p.Lys3081Asn)
c.9465A>T (p.Lys3155Asn)
c.4488A>T (p.Lys1496Asn)
c.2238A>T (p.Lys746Asn)
c.3201A>T (p.Lys1067Asn)
1g.197093103T>CCA422672901ASPMn.2530A>G
c.9243A>G (p.Lys3081=)
c.9465A>G (p.Lys3155=)
c.4488A>G (p.Lys1496=)
c.2238A>G (p.Lys746=)
c.3201A>G (p.Lys1067=)
1g.197093103T>GCA344006841ASPMn.2530A>C
c.9243A>C (p.Lys3081Asn)
c.9465A>C (p.Lys3155Asn)
c.4488A>C (p.Lys1496Asn)
c.2238A>C (p.Lys746Asn)
c.3201A>C (p.Lys1067Asn)
1g.197093103_197093108delinsTTTTTTCA1149118332ASPMn.2525_2530delinsAAAAAA
c.9238_9243delinsAAAAAA (p.Lys3080=)
c.9460_9465delinsAAAAAA (p.Lys3154=)
c.4483_4488delinsAAAAAA (p.Lys1495=)
c.2233_2238delinsAAAAAA (p.Lys745=)
c.3196_3201delinsAAAAAA (p.Lys1066=)
1g.197093108dupCA1309007ASPMn.2530dup
c.9243dup (p.Ser3082IlefsTer?)
c.9465dup (p.Ser3156IlefsTer?)
c.4488dup (p.Ser1497IlefsTer?)
c.2238dup (p.Ser747IlefsTer?)
c.3201dup (p.Ser1068IlefsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197093104T>ACA344006846ASPMn.2529A>T
c.9242A>T (p.Lys3081Ile)
c.9464A>T (p.Lys3155Ile)
c.4487A>T (p.Lys1496Ile)
c.2237A>T (p.Lys746Ile)
c.3200A>T (p.Lys1067Ile)
1g.197093104T>CCA344006848ASPMn.2529A>G
c.9242A>G (p.Lys3081Arg)
c.9464A>G (p.Lys3155Arg)
c.4487A>G (p.Lys1496Arg)
c.2237A>G (p.Lys746Arg)
c.3200A>G (p.Lys1067Arg)
1g.197093104T>GCA344006850ASPMn.2529A>C
c.9242A>C (p.Lys3081Thr)
c.9464A>C (p.Lys3155Thr)
c.4487A>C (p.Lys1496Thr)
c.2237A>C (p.Lys746Thr)
c.3200A>C (p.Lys1067Thr)
1g.197093105T>ACA344006854ASPMn.2528A>T
c.9241A>T (p.Lys3081Ter)
c.9463A>T (p.Lys3155Ter)
c.4486A>T (p.Lys1496Ter)
c.2236A>T (p.Lys746Ter)
c.3199A>T (p.Lys1067Ter)
1g.197093105T>CCA344006856ASPMn.2528A>G
c.9241A>G (p.Lys3081Glu)
c.9463A>G (p.Lys3155Glu)
c.4486A>G (p.Lys1496Glu)
c.2236A>G (p.Lys746Glu)
c.3199A>G (p.Lys1067Glu)
1g.197093105T>GCA344006859ASPMn.2528A>C
c.9241A>C (p.Lys3081Gln)
c.9463A>C (p.Lys3155Gln)
c.4486A>C (p.Lys1496Gln)
c.2236A>C (p.Lys746Gln)
c.3199A>C (p.Lys1067Gln)
1g.197093106T>ACA344006862ASPMn.2527A>T
c.9240A>T (p.Lys3080Asn)
c.9462A>T (p.Lys3154Asn)
c.4485A>T (p.Lys1495Asn)
c.2235A>T (p.Lys745Asn)
c.3198A>T (p.Lys1066Asn)
 COSMIC
1g.197093106T>CCA422672911ASPMn.2527A>G
c.9240A>G (p.Lys3080=)
c.9462A>G (p.Lys3154=)
c.4485A>G (p.Lys1495=)
c.2235A>G (p.Lys745=)
c.3198A>G (p.Lys1066=)
1g.197093106T>GCA344006864ASPMn.2527A>C
c.9240A>C (p.Lys3080Asn)
c.9462A>C (p.Lys3154Asn)
c.4485A>C (p.Lys1495Asn)
c.2235A>C (p.Lys745Asn)
c.3198A>C (p.Lys1066Asn)
1g.197093107T>ACA344006866ASPMn.2526A>T
c.9239A>T (p.Lys3080Ile)
c.9461A>T (p.Lys3154Ile)
c.4484A>T (p.Lys1495Ile)
c.2234A>T (p.Lys745Ile)
c.3197A>T (p.Lys1066Ile)
1g.197093107T>CCA344006867ASPMn.2526A>G
c.9239A>G (p.Lys3080Arg)
c.9461A>G (p.Lys3154Arg)
c.4484A>G (p.Lys1495Arg)
c.2234A>G (p.Lys745Arg)
c.3197A>G (p.Lys1066Arg)
 gnomAD v4
1g.197093107T>GCA344006868ASPMn.2526A>C
c.9239A>C (p.Lys3080Thr)
c.9461A>C (p.Lys3154Thr)
c.4484A>C (p.Lys1495Thr)
c.2234A>C (p.Lys745Thr)
c.3197A>C (p.Lys1066Thr)
 gnomAD v4
1g.197093108T>ACA342291ASPMn.2525A>T
c.9238A>T (p.Lys3080Ter)
c.9460A>T (p.Lys3154Ter)
c.4483A>T (p.Lys1495Ter)
c.2233A>T (p.Lys745Ter)
c.3196A>T (p.Lys1066Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197093108T>CCA344006869ASPMn.2525A>G
c.9238A>G (p.Lys3080Glu)
c.9460A>G (p.Lys3154Glu)
c.4483A>G (p.Lys1495Glu)
c.2233A>G (p.Lys745Glu)
c.3196A>G (p.Lys1066Glu)
 dbSNP
1g.197093108T>GCA344006870ASPMn.2525A>C
c.9238A>C (p.Lys3080Gln)
c.9460A>C (p.Lys3154Gln)
c.4483A>C (p.Lys1495Gln)
c.2233A>C (p.Lys745Gln)
c.3196A>C (p.Lys1066Gln)
1g.197093108T=CA1143355793ASPMn.2525A=
c.9238A= (p.Lys3080=)
c.9460A= (p.Lys3154=)
c.4483A= (p.Lys1495=)
c.2233A= (p.Lys745=)
c.3196A= (p.Lys1066=)
1g.197093109A=CA1144872943ASPMn.2524T=
c.9237T= (p.Phe3079=)
c.9459T= (p.Phe3153=)
c.4482T= (p.Phe1494=)
c.2232T= (p.Phe744=)
c.3195T= (p.Phe1065=)
1g.197093109A>CCA344006871ASPMn.2524T>G
c.9237T>G (p.Phe3079Leu)
c.9459T>G (p.Phe3153Leu)
c.4482T>G (p.Phe1494Leu)
c.2232T>G (p.Phe744Leu)
c.3195T>G (p.Phe1065Leu)
1g.197093109A>GCA422672922ASPMn.2524T>C
c.9237T>C (p.Phe3079=)
c.9459T>C (p.Phe3153=)
c.4482T>C (p.Phe1494=)
c.2232T>C (p.Phe744=)
c.3195T>C (p.Phe1065=)
1g.197093109A>TCA35863391ASPMn.2524T>A
c.9237T>A (p.Phe3079Leu)
c.9459T>A (p.Phe3153Leu)
c.4482T>A (p.Phe1494Leu)
c.2232T>A (p.Phe744Leu)
c.3195T>A (p.Phe1065Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197093110A>CCA344006872ASPMn.2523T>G
c.9236T>G (p.Phe3079Cys)
c.9458T>G (p.Phe3153Cys)
c.4481T>G (p.Phe1494Cys)
c.2231T>G (p.Phe744Cys)
c.3194T>G (p.Phe1065Cys)
1g.197093110A>GCA344006873ASPMn.2523T>C
c.9236T>C (p.Phe3079Ser)
c.9458T>C (p.Phe3153Ser)
c.4481T>C (p.Phe1494Ser)
c.2231T>C (p.Phe744Ser)
c.3194T>C (p.Phe1065Ser)
1g.197093110A>TCA344006874ASPMn.2523T>A
c.9236T>A (p.Phe3079Tyr)
c.9458T>A (p.Phe3153Tyr)
c.4481T>A (p.Phe1494Tyr)
c.2231T>A (p.Phe744Tyr)
c.3194T>A (p.Phe1065Tyr)
1g.197093111A=CA1217926685ASPMn.2522T=
c.9235T= (p.Phe3079=)
c.9457T= (p.Phe3153=)
c.4480T= (p.Phe1494=)
c.2230T= (p.Phe744=)
c.3193T= (p.Phe1065=)
1g.197093111A>CCA344006877ASPMn.2522T>G
c.9235T>G (p.Phe3079Val)
c.9457T>G (p.Phe3153Val)
c.4480T>G (p.Phe1494Val)
c.2230T>G (p.Phe744Val)
c.3193T>G (p.Phe1065Val)
 dbSNP
1g.197093111A>GCA344006878ASPMn.2522T>C
c.9235T>C (p.Phe3079Leu)
c.9457T>C (p.Phe3153Leu)
c.4480T>C (p.Phe1494Leu)
c.2230T>C (p.Phe744Leu)
c.3193T>C (p.Phe1065Leu)
 gnomAD v4
1g.197093111A>TCA344006875ASPMn.2522T>A
c.9235T>A (p.Phe3079Ile)
c.9457T>A (p.Phe3153Ile)
c.4480T>A (p.Phe1494Ile)
c.2230T>A (p.Phe744Ile)
c.3193T>A (p.Phe1065Ile)
1g.197093112T>ACA344006879ASPMn.2521A>T
c.9234A>T (p.Glu3078Asp)
c.9456A>T (p.Glu3152Asp)
c.4479A>T (p.Glu1493Asp)
c.2229A>T (p.Glu743Asp)
c.3192A>T (p.Glu1064Asp)
 dbSNP gnomAD v2
1g.197093112T>CCA422672930ASPMn.2521A>G
c.9234A>G (p.Glu3078=)
c.9456A>G (p.Glu3152=)
c.4479A>G (p.Glu1493=)
c.2229A>G (p.Glu743=)
c.3192A>G (p.Glu1064=)
1g.197093112T>GCA344006880ASPMn.2521A>C
c.9234A>C (p.Glu3078Asp)
c.9456A>C (p.Glu3152Asp)
c.4479A>C (p.Glu1493Asp)
c.2229A>C (p.Glu743Asp)
c.3192A>C (p.Glu1064Asp)
1g.197093112T=CA1217926686ASPMn.2521A=
c.9234A= (p.Glu3078=)
c.9456A= (p.Glu3152=)
c.4479A= (p.Glu1493=)
c.2229A= (p.Glu743=)
c.3192A= (p.Glu1064=)
1g.197093113T>ACA344006883ASPMn.2520A>T
c.9233A>T (p.Glu3078Val)
c.9455A>T (p.Glu3152Val)
c.4478A>T (p.Glu1493Val)
c.2228A>T (p.Glu743Val)
c.3191A>T (p.Glu1064Val)
1g.197093113T>CCA344006887ASPMn.2520A>G
c.9233A>G (p.Glu3078Gly)
c.9455A>G (p.Glu3152Gly)
c.4478A>G (p.Glu1493Gly)
c.2228A>G (p.Glu743Gly)
c.3191A>G (p.Glu1064Gly)
1g.197093113T>GCA344006889ASPMn.2520A>C
c.9233A>C (p.Glu3078Ala)
c.9455A>C (p.Glu3152Ala)
c.4478A>C (p.Glu1493Ala)
c.2228A>C (p.Glu743Ala)
c.3191A>C (p.Glu1064Ala)
 dbSNP gnomAD v4
1g.197093113T=CA1217926687ASPMn.2520A=
c.9233A= (p.Glu3078=)
c.9455A= (p.Glu3152=)
c.4478A= (p.Glu1493=)
c.2228A= (p.Glu743=)
c.3191A= (p.Glu1064=)
1g.197093114C>ACA344006892ASPMn.2519G>T
c.9232G>T (p.Glu3078Ter)
c.9454G>T (p.Glu3152Ter)
c.4477G>T (p.Glu1493Ter)
c.2227G>T (p.Glu743Ter)
c.3190G>T (p.Glu1064Ter)
1g.197093114C=CA1217926688ASPMn.2519G=
c.9232G= (p.Glu3078=)
c.9454G= (p.Glu3152=)
c.4477G= (p.Glu1493=)
c.2227G= (p.Glu743=)
c.3190G= (p.Glu1064=)
1g.197093114C>GCA344006894ASPMn.2519G>C
c.9232G>C (p.Glu3078Gln)
c.9454G>C (p.Glu3152Gln)
c.4477G>C (p.Glu1493Gln)
c.2227G>C (p.Glu743Gln)
c.3190G>C (p.Glu1064Gln)
 gnomAD v4
1g.197093114C>TCA344006896ASPMn.2519G>A
c.9232G>A (p.Glu3078Lys)
c.9454G>A (p.Glu3152Lys)
c.4477G>A (p.Glu1493Lys)
c.2227G>A (p.Glu743Lys)
c.3190G>A (p.Glu1064Lys)
 gnomAD v4
1g.197093115A>CCA344006899ASPMn.2518T>G
c.9231T>G (p.Ile3077Met)
c.9453T>G (p.Ile3151Met)
c.4476T>G (p.Ile1492Met)
c.2226T>G (p.Ile742Met)
c.3189T>G (p.Ile1063Met)
1g.197093115A>GCA422672943ASPMn.2518T>C
c.9231T>C (p.Ile3077=)
c.9453T>C (p.Ile3151=)
c.4476T>C (p.Ile1492=)
c.2226T>C (p.Ile742=)
c.3189T>C (p.Ile1063=)
1g.197093115A>TCA422672941ASPMn.2518T>A
c.9231T>A (p.Ile3077=)
c.9453T>A (p.Ile3151=)
c.4476T>A (p.Ile1492=)
c.2226T>A (p.Ile742=)
c.3189T>A (p.Ile1063=)
1g.197093115_197093116delinsAACA1140605170ASPMn.2517_2518delinsTT
c.9230_9231delinsTT (p.Ile3077=)
c.9452_9453delinsTT (p.Ile3151=)
c.4475_4476delinsTT (p.Ile1492=)
c.2225_2226delinsTT (p.Ile742=)
c.3188_3189delinsTT (p.Ile1063=)
1g.197093116dupCA35863402ASPMn.2518dup
c.9231dup (p.Glu3078Ter)
c.9453dup (p.Glu3152Ter)
c.4476dup (p.Glu1493Ter)
c.2226dup (p.Glu743Ter)
c.3189dup (p.Glu1064Ter)
 dbSNP
1g.197093116A=CA1140548293ASPMn.2517T=
c.9230T= (p.Ile3077=)
c.9452T= (p.Ile3151=)
c.4475T= (p.Ile1492=)
c.2225T= (p.Ile742=)
c.3188T= (p.Ile1063=)
1g.197093116A>CCA344006902ASPMn.2517T>G
c.9230T>G (p.Ile3077Ser)
c.9452T>G (p.Ile3151Ser)
c.4475T>G (p.Ile1492Ser)
c.2225T>G (p.Ile742Ser)
c.3188T>G (p.Ile1063Ser)
1g.197093116A>GCA35863406ASPMn.2517T>C
c.9230T>C (p.Ile3077Thr)
c.9452T>C (p.Ile3151Thr)
c.4475T>C (p.Ile1492Thr)
c.2225T>C (p.Ile742Thr)
c.3188T>C (p.Ile1063Thr)
 dbSNP
1g.197093116A>TCA344006905ASPMn.2517T>A
c.9230T>A (p.Ile3077Asn)
c.9452T>A (p.Ile3151Asn)
c.4475T>A (p.Ile1492Asn)
c.2225T>A (p.Ile742Asn)
c.3188T>A (p.Ile1063Asn)
1g.197093116_197093117insGGCA2747239625ASPMn.2516_2517insCC
c.9229_9230insCC (p.Ile3077ThrfsTer19)
c.9451_9452insCC (p.Ile3151ThrfsTer19)
c.4474_4475insCC (p.Ile1492ThrfsTer19)
c.2224_2225insCC (p.Ile742ThrfsTer19)
c.3187_3188insCC (p.Ile1063ThrfsTer19)
1g.197093117T>ACA344006910ASPMn.2516A>T
c.9229A>T (p.Ile3077Phe)
c.9451A>T (p.Ile3151Phe)
c.4474A>T (p.Ile1492Phe)
c.2224A>T (p.Ile742Phe)
c.3187A>T (p.Ile1063Phe)
1g.197093117T>CCA1309008ASPMn.2516A>G
c.9229A>G (p.Ile3077Val)
c.9451A>G (p.Ile3151Val)
c.4474A>G (p.Ile1492Val)
c.2224A>G (p.Ile742Val)
c.3187A>G (p.Ile1063Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197093117T>GCA344006908ASPMn.2516A>C
c.9229A>C (p.Ile3077Leu)
c.9451A>C (p.Ile3151Leu)
c.4474A>C (p.Ile1492Leu)
c.2224A>C (p.Ile742Leu)
c.3187A>C (p.Ile1063Leu)
1g.197093117T=CA1217926689ASPMn.2516A=
c.9229A= (p.Ile3077=)
c.9451A= (p.Ile3151=)
c.4474A= (p.Ile1492=)
c.2224A= (p.Ile742=)
c.3187A= (p.Ile1063=)
1g.197093118A=CA1217926690ASPMn.2515T=
c.9228T= (p.Tyr3076=)
c.9450T= (p.Tyr3150=)
c.4473T= (p.Tyr1491=)
c.2223T= (p.Tyr741=)
c.3186T= (p.Tyr1062=)
1g.197093118A>CCA344006914ASPMn.2515T>G
c.9228T>G (p.Tyr3076Ter)
c.9450T>G (p.Tyr3150Ter)
c.4473T>G (p.Tyr1491Ter)
c.2223T>G (p.Tyr741Ter)
c.3186T>G (p.Tyr1062Ter)
1g.197093118A>GCA1309009ASPMn.2515T>C
c.9228T>C (p.Tyr3076=)
c.9450T>C (p.Tyr3150=)
c.4473T>C (p.Tyr1491=)
c.2223T>C (p.Tyr741=)
c.3186T>C (p.Tyr1062=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197093118A>TCA344006917ASPMn.2515T>A
c.9228T>A (p.Tyr3076Ter)
c.9450T>A (p.Tyr3150Ter)
c.4473T>A (p.Tyr1491Ter)
c.2223T>A (p.Tyr741Ter)
c.3186T>A (p.Tyr1062Ter)
1g.197093119T>ACA344006920ASPMn.2514A>T
c.9227A>T (p.Tyr3076Phe)
c.9449A>T (p.Tyr3150Phe)
c.4472A>T (p.Tyr1491Phe)
c.2222A>T (p.Tyr741Phe)
c.3185A>T (p.Tyr1062Phe)
1g.197093119T>CCA344006928ASPMn.2514A>G
c.9227A>G (p.Tyr3076Cys)
c.9449A>G (p.Tyr3150Cys)
c.4472A>G (p.Tyr1491Cys)
c.2222A>G (p.Tyr741Cys)
c.3185A>G (p.Tyr1062Cys)
 gnomAD v4
1g.197093119T>GCA344006929ASPMn.2514A>C
c.9227A>C (p.Tyr3076Ser)
c.9449A>C (p.Tyr3150Ser)
c.4472A>C (p.Tyr1491Ser)
c.2222A>C (p.Tyr741Ser)
c.3185A>C (p.Tyr1062Ser)
1g.197093120A>CCA344006932ASPMn.2513T>G
c.9226T>G (p.Tyr3076Asp)
c.9448T>G (p.Tyr3150Asp)
c.4471T>G (p.Tyr1491Asp)
c.2221T>G (p.Tyr741Asp)
c.3184T>G (p.Tyr1062Asp)
1g.197093120A>GCA344006936ASPMn.2513T>C
c.9226T>C (p.Tyr3076His)
c.9448T>C (p.Tyr3150His)
c.4471T>C (p.Tyr1491His)
c.2221T>C (p.Tyr741His)
c.3184T>C (p.Tyr1062His)
1g.197093120A>TCA344006934ASPMn.2513T>A
c.9226T>A (p.Tyr3076Asn)
c.9448T>A (p.Tyr3150Asn)
c.4471T>A (p.Tyr1491Asn)
c.2221T>A (p.Tyr741Asn)
c.3184T>A (p.Tyr1062Asn)
1g.197093121T>ACA344006939ASPMn.2512A>T
c.9225A>T (p.Lys3075Asn)
c.9447A>T (p.Lys3149Asn)
c.4470A>T (p.Lys1490Asn)
c.2220A>T (p.Lys740Asn)
c.3183A>T (p.Lys1061Asn)
1g.197093121T>CCA422672963ASPMn.2512A>G
c.9225A>G (p.Lys3075=)
c.9447A>G (p.Lys3149=)
c.4470A>G (p.Lys1490=)
c.2220A>G (p.Lys740=)
c.3183A>G (p.Lys1061=)
1g.197093121T>GCA344006940ASPMn.2512A>C
c.9225A>C (p.Lys3075Asn)
c.9447A>C (p.Lys3149Asn)
c.4470A>C (p.Lys1490Asn)
c.2220A>C (p.Lys740Asn)
c.3183A>C (p.Lys1061Asn)
1g.197093122T>ACA344006944ASPMn.2511A>T
c.9224A>T (p.Lys3075Ile)
c.9446A>T (p.Lys3149Ile)
c.4469A>T (p.Lys1490Ile)
c.2219A>T (p.Lys740Ile)
c.3182A>T (p.Lys1061Ile)
1g.197093122T>CCA344006946ASPMn.2511A>G
c.9224A>G (p.Lys3075Arg)
c.9446A>G (p.Lys3149Arg)
c.4469A>G (p.Lys1490Arg)
c.2219A>G (p.Lys740Arg)
c.3182A>G (p.Lys1061Arg)
1g.197093122T>GCA344006948ASPMn.2511A>C
c.9224A>C (p.Lys3075Thr)
c.9446A>C (p.Lys3149Thr)
c.4469A>C (p.Lys1490Thr)
c.2219A>C (p.Lys740Thr)
c.3182A>C (p.Lys1061Thr)
1g.197093123T>ACA344006957ASPMn.2510A>T
c.9223A>T (p.Lys3075Ter)
c.9445A>T (p.Lys3149Ter)
c.4468A>T (p.Lys1490Ter)
c.2218A>T (p.Lys740Ter)
c.3181A>T (p.Lys1061Ter)
1g.197093123T>CCA344006955ASPMn.2510A>G
c.9223A>G (p.Lys3075Glu)
c.9445A>G (p.Lys3149Glu)
c.4468A>G (p.Lys1490Glu)
c.2218A>G (p.Lys740Glu)
c.3181A>G (p.Lys1061Glu)
1g.197093123T>GCA1309010ASPMn.2510A>C
c.9223A>C (p.Lys3075Gln)
c.9445A>C (p.Lys3149Gln)
c.4468A>C (p.Lys1490Gln)
c.2218A>C (p.Lys740Gln)
c.3181A>C (p.Lys1061Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197093123T=CA1148468170ASPMn.2510A=
c.9223A= (p.Lys3075=)
c.9445A= (p.Lys3149=)
c.4468A= (p.Lys1490=)
c.2218A= (p.Lys740=)
c.3181A= (p.Lys1061=)
1g.197093124T>ACA422672973ASPMn.2509A>T
c.9222A>T (p.Ile3074=)
c.9444A>T (p.Ile3148=)
c.4467A>T (p.Ile1489=)
c.2217A>T (p.Ile739=)
c.3180A>T (p.Ile1060=)
1g.197093124T>CCA344006960ASPMn.2509A>G
c.9222A>G (p.Ile3074Met)
c.9444A>G (p.Ile3148Met)
c.4467A>G (p.Ile1489Met)
c.2217A>G (p.Ile739Met)
c.3180A>G (p.Ile1060Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197093124T>GCA422672976ASPMn.2509A>C
c.9222A>C (p.Ile3074=)
c.9444A>C (p.Ile3148=)
c.4467A>C (p.Ile1489=)
c.2217A>C (p.Ile739=)
c.3180A>C (p.Ile1060=)
1g.197093124T=CA1217926691ASPMn.2509A=
c.9222A= (p.Ile3074=)
c.9444A= (p.Ile3148=)
c.4467A= (p.Ile1489=)
c.2217A= (p.Ile739=)
c.3180A= (p.Ile1060=)
1g.197093124_197093125insGTCACA2747239626ASPMn.2508_2509insTGAC
c.9221_9222insTGAC (p.Lys3075AspfsTer5)
c.9443_9444insTGAC (p.Lys3149AspfsTer5)
c.4466_4467insTGAC (p.Lys1490AspfsTer5)
c.2216_2217insTGAC (p.Lys740AspfsTer5)
c.3179_3180insTGAC (p.Lys1061AspfsTer5)
1g.197093125A>CCA344006961ASPMn.2508T>G
c.9221T>G (p.Ile3074Arg)
c.9443T>G (p.Ile3148Arg)
c.4466T>G (p.Ile1489Arg)
c.2216T>G (p.Ile739Arg)
c.3179T>G (p.Ile1060Arg)
1g.197093125A>GCA344006968ASPMn.2508T>C
c.9221T>C (p.Ile3074Thr)
c.9443T>C (p.Ile3148Thr)
c.4466T>C (p.Ile1489Thr)
c.2216T>C (p.Ile739Thr)
c.3179T>C (p.Ile1060Thr)
1g.197093125A>TCA344006965ASPMn.2508T>A
c.9221T>A (p.Ile3074Lys)
c.9443T>A (p.Ile3148Lys)
c.4466T>A (p.Ile1489Lys)
c.2216T>A (p.Ile739Lys)
c.3179T>A (p.Ile1060Lys)
1g.197093126T>ACA344006971ASPMn.2507A>T
c.9220A>T (p.Ile3074Leu)
c.9442A>T (p.Ile3148Leu)
c.4465A>T (p.Ile1489Leu)
c.2215A>T (p.Ile739Leu)
c.3178A>T (p.Ile1060Leu)
1g.197093126T>CCA344006972ASPMn.2507A>G
c.9220A>G (p.Ile3074Val)
c.9442A>G (p.Ile3148Val)
c.4465A>G (p.Ile1489Val)
c.2215A>G (p.Ile739Val)
c.3178A>G (p.Ile1060Val)
1g.197093126T>GCA344006973ASPMn.2507A>C
c.9220A>C (p.Ile3074Leu)
c.9442A>C (p.Ile3148Leu)
c.4465A>C (p.Ile1489Leu)
c.2215A>C (p.Ile739Leu)
c.3178A>C (p.Ile1060Leu)
1g.197093127C>ACA344006976ASPMn.2506G>T
c.9219G>T (p.Arg3073Ser)
c.9441G>T (p.Arg3147Ser)
c.4464G>T (p.Arg1488Ser)
c.2214G>T (p.Arg738Ser)
c.3177G>T (p.Arg1059Ser)
1g.197093127C=CA1217926692ASPMn.2506G=
c.9219G= (p.Arg3073=)
c.9441G= (p.Arg3147=)
c.4464G= (p.Arg1488=)
c.2214G= (p.Arg738=)
c.3177G= (p.Arg1059=)
1g.197093127C>GCA344006978ASPMn.2506G>C
c.9219G>C (p.Arg3073Ser)
c.9441G>C (p.Arg3147Ser)
c.4464G>C (p.Arg1488Ser)
c.2214G>C (p.Arg738Ser)
c.3177G>C (p.Arg1059Ser)
1g.197093127C>TCA1309011ASPMn.2506G>A
c.9219G>A (p.Arg3073=)
c.9441G>A (p.Arg3147=)
c.4464G>A (p.Arg1488=)
c.2214G>A (p.Arg738=)
c.3177G>A (p.Arg1059=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197093128C>ACA344006984ASPMn.2505G>T
c.9218G>T (p.Arg3073Met)
c.9440G>T (p.Arg3147Met)
c.4463G>T (p.Arg1488Met)
c.2213G>T (p.Arg738Met)
c.3176G>T (p.Arg1059Met)
1g.197093128C=CA1217926693ASPMn.2505G=
c.9218G= (p.Arg3073=)
c.9440G= (p.Arg3147=)
c.4463G= (p.Arg1488=)
c.2213G= (p.Arg738=)
c.3176G= (p.Arg1059=)
1g.197093128C>GCA344006986ASPMn.2505G>C
c.9218G>C (p.Arg3073Thr)
c.9440G>C (p.Arg3147Thr)
c.4463G>C (p.Arg1488Thr)
c.2213G>C (p.Arg738Thr)
c.3176G>C (p.Arg1059Thr)
 gnomAD v4
1g.197093128C>TCA35863415ASPMn.2505G>A
c.9218G>A (p.Arg3073Lys)
c.9440G>A (p.Arg3147Lys)
c.4463G>A (p.Arg1488Lys)
c.2213G>A (p.Arg738Lys)
c.3176G>A (p.Arg1059Lys)
 dbSNP gnomAD v4
1g.197093129T>ACA344006990ASPMn.2504A>T
c.9217A>T (p.Arg3073Trp)
c.9439A>T (p.Arg3147Trp)
c.4462A>T (p.Arg1488Trp)
c.2212A>T (p.Arg738Trp)
c.3175A>T (p.Arg1059Trp)
1g.197093129T>CCA344006992ASPMn.2504A>G
c.9217A>G (p.Arg3073Gly)
c.9439A>G (p.Arg3147Gly)
c.4462A>G (p.Arg1488Gly)
c.2212A>G (p.Arg738Gly)
c.3175A>G (p.Arg1059Gly)
1g.197093129T>GCA422672991ASPMn.2504A>C
c.9217A>C (p.Arg3073=)
c.9439A>C (p.Arg3147=)
c.4462A>C (p.Arg1488=)
c.2212A>C (p.Arg738=)
c.3175A>C (p.Arg1059=)
1g.197093129_197093130insGTGCA2747239627ASPMn.2503_2504insCAC
c.9216_9217insCAC (p.Glu3072_Arg3073insHis)
c.9438_9439insCAC (p.Glu3146_Arg3147insHis)
c.4461_4462insCAC (p.Glu1487_Arg1488insHis)
c.2211_2212insCAC (p.Glu737_Arg738insHis)
c.3174_3175insCAC (p.Glu1058_Arg1059insHis)
1g.197093130T>ACA344006996ASPMn.2503A>T
c.9216A>T (p.Glu3072Asp)
c.9438A>T (p.Glu3146Asp)
c.4461A>T (p.Glu1487Asp)
c.2211A>T (p.Glu737Asp)
c.3174A>T (p.Glu1058Asp)
1g.197093130T>CCA422672994ASPMn.2503A>G
c.9216A>G (p.Glu3072=)
c.9438A>G (p.Glu3146=)
c.4461A>G (p.Glu1487=)
c.2211A>G (p.Glu737=)
c.3174A>G (p.Glu1058=)
1g.197093130T>GCA344006998ASPMn.2503A>C
c.9216A>C (p.Glu3072Asp)
c.9438A>C (p.Glu3146Asp)
c.4461A>C (p.Glu1487Asp)
c.2211A>C (p.Glu737Asp)
c.3174A>C (p.Glu1058Asp)
1g.197093131_197093169delCA2561352810ASPMn.2465_2503del
c.9178_9216del (p.Gln3060_Glu3072del)
c.9400_9438del (p.Gln3134_Glu3146del)
c.4423_4461del (p.Gln1475_Glu1487del)
c.2173_2211del (p.Gln725_Glu737del)
c.3136_3174del (p.Gln1046_Glu1058del)
1g.197093131T>ACA344007000ASPMn.2502A>T
c.9215A>T (p.Glu3072Val)
c.9437A>T (p.Glu3146Val)
c.4460A>T (p.Glu1487Val)
c.2210A>T (p.Glu737Val)
c.3173A>T (p.Glu1058Val)
1g.197093131T>CCA344007005ASPMn.2502A>G
c.9215A>G (p.Glu3072Gly)
c.9437A>G (p.Glu3146Gly)
c.4460A>G (p.Glu1487Gly)
c.2210A>G (p.Glu737Gly)
c.3173A>G (p.Glu1058Gly)
1g.197093131T>GCA1309012ASPMn.2502A>C
c.9215A>C (p.Glu3072Ala)
c.9437A>C (p.Glu3146Ala)
c.4460A>C (p.Glu1487Ala)
c.2210A>C (p.Glu737Ala)
c.3173A>C (p.Glu1058Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197093131T=CA1146507585ASPMn.2502A=
c.9215A= (p.Glu3072=)
c.9437A= (p.Glu3146=)
c.4460A= (p.Glu1487=)
c.2210A= (p.Glu737=)
c.3173A= (p.Glu1058=)
1g.197093131_197093132insGAGCA2747239628ASPMn.2501_2502insCTC
c.9214_9215insCTC (p.Glu3072delinsAlaGln)
c.9436_9437insCTC (p.Glu3146delinsAlaGln)
c.4459_4460insCTC (p.Glu1487delinsAlaGln)
c.2209_2210insCTC (p.Glu737delinsAlaGln)
c.3172_3173insCTC (p.Glu1058delinsAlaGln)
1g.197093132C>ACA344007008ASPMn.2501G>T
c.9214G>T (p.Glu3072Ter)
c.9436G>T (p.Glu3146Ter)
c.4459G>T (p.Glu1487Ter)
c.2209G>T (p.Glu737Ter)
c.3172G>T (p.Glu1058Ter)
1g.197093132C>GCA344007011ASPMn.2501G>C
c.9214G>C (p.Glu3072Gln)
c.9436G>C (p.Glu3146Gln)
c.4459G>C (p.Glu1487Gln)
c.2209G>C (p.Glu737Gln)
c.3172G>C (p.Glu1058Gln)
1g.197093132C>TCA344007013ASPMn.2501G>A
c.9214G>A (p.Glu3072Lys)
c.9436G>A (p.Glu3146Lys)
c.4459G>A (p.Glu1487Lys)
c.2209G>A (p.Glu737Lys)
c.3172G>A (p.Glu1058Lys)
 gnomAD v4
1g.197093133A>CCA344007015ASPMn.2500T>G
c.9213T>G (p.His3071Gln)
c.9435T>G (p.His3145Gln)
c.4458T>G (p.His1486Gln)
c.2208T>G (p.His736Gln)
c.3171T>G (p.His1057Gln)
1g.197093133A>GCA422673004ASPMn.2500T>C
c.9213T>C (p.His3071=)
c.9435T>C (p.His3145=)
c.4458T>C (p.His1486=)
c.2208T>C (p.His736=)
c.3171T>C (p.His1057=)
1g.197093133A>TCA344007017ASPMn.2500T>A
c.9213T>A (p.His3071Gln)
c.9435T>A (p.His3145Gln)
c.4458T>A (p.His1486Gln)
c.2208T>A (p.His736Gln)
c.3171T>A (p.His1057Gln)
1g.197093134T>ACA1309013ASPMn.2499A>T
c.9212A>T (p.His3071Leu)
c.9434A>T (p.His3145Leu)
c.4457A>T (p.His1486Leu)
c.2207A>T (p.His736Leu)
c.3170A>T (p.His1057Leu)
 dbSNP ExAC gnomAD v2
1g.197093134T>CCA344007022ASPMn.2499A>G
c.9212A>G (p.His3071Arg)
c.9434A>G (p.His3145Arg)
c.4457A>G (p.His1486Arg)
c.2207A>G (p.His736Arg)
c.3170A>G (p.His1057Arg)
 dbSNP
1g.197093134T>GCA344007024ASPMn.2499A>C
c.9212A>C (p.His3071Pro)
c.9434A>C (p.His3145Pro)
c.4457A>C (p.His1486Pro)
c.2207A>C (p.His736Pro)
c.3170A>C (p.His1057Pro)
1g.197093134T=CA1148269449ASPMn.2499A=
c.9212A= (p.His3071=)
c.9434A= (p.His3145=)
c.4457A= (p.His1486=)
c.2207A= (p.His736=)
c.3170A= (p.His1057=)
1g.197093135G>ACA344007027ASPMn.2498C>T
c.9211C>T (p.His3071Tyr)
c.9433C>T (p.His3145Tyr)
c.4456C>T (p.His1486Tyr)
c.2206C>T (p.His736Tyr)
c.3169C>T (p.His1057Tyr)
1g.197093135G>CCA344007029ASPMn.2498C>G
c.9211C>G (p.His3071Asp)
c.9433C>G (p.His3145Asp)
c.4456C>G (p.His1486Asp)
c.2206C>G (p.His736Asp)
c.3169C>G (p.His1057Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.197093135G=CA1217926694ASPMn.2498C=
c.9211C= (p.His3071=)
c.9433C= (p.His3145=)
c.4456C= (p.His1486=)
c.2206C= (p.His736=)
c.3169C= (p.His1057=)
1g.197093135G>TCA344007032ASPMn.2498C>A
c.9211C>A (p.His3071Asn)
c.9433C>A (p.His3145Asn)
c.4456C>A (p.His1486Asn)
c.2206C>A (p.His736Asn)
c.3169C>A (p.His1057Asn)
1g.197093136C>ACA344007035ASPMn.2497G>T
c.9210G>T (p.Lys3070Asn)
c.9432G>T (p.Lys3144Asn)
c.4455G>T (p.Lys1485Asn)
c.2205G>T (p.Lys735Asn)
c.3168G>T (p.Lys1056Asn)
1g.197093136C>GCA344007038ASPMn.2497G>C
c.9210G>C (p.Lys3070Asn)
c.9432G>C (p.Lys3144Asn)
c.4455G>C (p.Lys1485Asn)
c.2205G>C (p.Lys735Asn)
c.3168G>C (p.Lys1056Asn)
1g.197093136C>TCA422673014ASPMn.2497G>A
c.9210G>A (p.Lys3070=)
c.9432G>A (p.Lys3144=)
c.4455G>A (p.Lys1485=)
c.2205G>A (p.Lys735=)
c.3168G>A (p.Lys1056=)
1g.197093137T>ACA344007040ASPMn.2496A>T
c.9209A>T (p.Lys3070Met)
c.9431A>T (p.Lys3144Met)
c.4454A>T (p.Lys1485Met)
c.2204A>T (p.Lys735Met)
c.3167A>T (p.Lys1056Met)
1g.197093137T>CCA344007042ASPMn.2496A>G
c.9209A>G (p.Lys3070Arg)
c.9431A>G (p.Lys3144Arg)
c.4454A>G (p.Lys1485Arg)
c.2204A>G (p.Lys735Arg)
c.3167A>G (p.Lys1056Arg)
1g.197093137T>GCA344007044ASPMn.2496A>C
c.9209A>C (p.Lys3070Thr)
c.9431A>C (p.Lys3144Thr)
c.4454A>C (p.Lys1485Thr)
c.2204A>C (p.Lys735Thr)
c.3167A>C (p.Lys1056Thr)
1g.197093138T>ACA344007047ASPMn.2495A>T
c.9208A>T (p.Lys3070Ter)
c.9430A>T (p.Lys3144Ter)
c.4453A>T (p.Lys1485Ter)
c.2203A>T (p.Lys735Ter)
c.3166A>T (p.Lys1056Ter)
1g.197093138T>CCA344007049ASPMn.2495A>G
c.9208A>G (p.Lys3070Glu)
c.9430A>G (p.Lys3144Glu)
c.4453A>G (p.Lys1485Glu)
c.2203A>G (p.Lys735Glu)
c.3166A>G (p.Lys1056Glu)
1g.197093138T>GCA344007052ASPMn.2495A>C
c.9208A>C (p.Lys3070Gln)
c.9430A>C (p.Lys3144Gln)
c.4453A>C (p.Lys1485Gln)
c.2203A>C (p.Lys735Gln)
c.3166A>C (p.Lys1056Gln)
1g.197093139T>ACA422673023ASPMn.2494A>T
c.9207A>T (p.Gly3069=)
c.9429A>T (p.Gly3143=)
c.4452A>T (p.Gly1484=)
c.2202A>T (p.Gly734=)
c.3165A>T (p.Gly1055=)
1g.197093139T>CCA422673025ASPMn.2494A>G
c.9207A>G (p.Gly3069=)
c.9429A>G (p.Gly3143=)
c.4452A>G (p.Gly1484=)
c.2202A>G (p.Gly734=)
c.3165A>G (p.Gly1055=)
 dbSNP gnomAD v2 gnomAD v4
1g.197093139T>GCA422673027ASPMn.2494A>C
c.9207A>C (p.Gly3069=)
c.9429A>C (p.Gly3143=)
c.4452A>C (p.Gly1484=)
c.2202A>C (p.Gly734=)
c.3165A>C (p.Gly1055=)
1g.197093139T=CA1217926695ASPMn.2494A=
c.9207A= (p.Gly3069=)
c.9429A= (p.Gly3143=)
c.4452A= (p.Gly1484=)
c.2202A= (p.Gly734=)
c.3165A= (p.Gly1055=)
1g.197093140C>ACA344007055ASPMn.2493G>T
c.9206G>T (p.Gly3069Val)
c.9428G>T (p.Gly3143Val)
c.4451G>T (p.Gly1484Val)
c.2201G>T (p.Gly734Val)
c.3164G>T (p.Gly1055Val)
 dbSNP
1g.197093140C=CA1217926696ASPMn.2493G=
c.9206G= (p.Gly3069=)
c.9428G= (p.Gly3143=)
c.4451G= (p.Gly1484=)
c.2201G= (p.Gly734=)
c.3164G= (p.Gly1055=)
1g.197093140C>GCA344007057ASPMn.2493G>C
c.9206G>C (p.Gly3069Ala)
c.9428G>C (p.Gly3143Ala)
c.4451G>C (p.Gly1484Ala)
c.2201G>C (p.Gly734Ala)
c.3164G>C (p.Gly1055Ala)
 dbSNP
1g.197093140C>TCA344007060ASPMn.2493G>A
c.9206G>A (p.Gly3069Glu)
c.9428G>A (p.Gly3143Glu)
c.4451G>A (p.Gly1484Glu)
c.2201G>A (p.Gly734Glu)
c.3164G>A (p.Gly1055Glu)
1g.197093141C>ACA344007063ASPMn.2492G>T
c.9205G>T (p.Gly3069Ter)
c.9427G>T (p.Gly3143Ter)
c.4450G>T (p.Gly1484Ter)
c.2200G>T (p.Gly734Ter)
c.3163G>T (p.Gly1055Ter)
1g.197093141C>GCA344007066ASPMn.2492G>C
c.9205G>C (p.Gly3069Arg)
c.9427G>C (p.Gly3143Arg)
c.4450G>C (p.Gly1484Arg)
c.2200G>C (p.Gly734Arg)
c.3163G>C (p.Gly1055Arg)
1g.197093141C>TCA344007069ASPMn.2492G>A
c.9205G>A (p.Gly3069Arg)
c.9427G>A (p.Gly3143Arg)
c.4450G>A (p.Gly1484Arg)
c.2200G>A (p.Gly734Arg)
c.3163G>A (p.Gly1055Arg)
 gnomAD v4
1g.197093142A>CCA422673036ASPMn.2491T>G
c.9204T>G (p.Ala3068=)
c.9426T>G (p.Ala3142=)
c.4449T>G (p.Ala1483=)
c.2199T>G (p.Ala733=)
c.3162T>G (p.Ala1054=)
1g.197093142A>GCA422673038ASPMn.2491T>C
c.9204T>C (p.Ala3068=)
c.9426T>C (p.Ala3142=)
c.4449T>C (p.Ala1483=)
c.2199T>C (p.Ala733=)
c.3162T>C (p.Ala1054=)
 gnomAD v4
1g.197093142A>TCA422673039ASPMn.2491T>A
c.9204T>A (p.Ala3068=)
c.9426T>A (p.Ala3142=)
c.4449T>A (p.Ala1483=)
c.2199T>A (p.Ala733=)
c.3162T>A (p.Ala1054=)
1g.197093143G>ACA344007074ASPMn.2490C>T
c.9203C>T (p.Ala3068Val)
c.9425C>T (p.Ala3142Val)
c.4448C>T (p.Ala1483Val)
c.2198C>T (p.Ala733Val)
c.3161C>T (p.Ala1054Val)
1g.197093143G>CCA344007076ASPMn.2490C>G
c.9203C>G (p.Ala3068Gly)
c.9425C>G (p.Ala3142Gly)
c.4448C>G (p.Ala1483Gly)
c.2198C>G (p.Ala733Gly)
c.3161C>G (p.Ala1054Gly)
1g.197093143G>TCA344007072ASPMn.2490C>A
c.9203C>A (p.Ala3068Asp)
c.9425C>A (p.Ala3142Asp)
c.4448C>A (p.Ala1483Asp)
c.2198C>A (p.Ala733Asp)
c.3161C>A (p.Ala1054Asp)
1g.197093144C>ACA344007080ASPMn.2489G>T
c.9202G>T (p.Ala3068Ser)
c.9424G>T (p.Ala3142Ser)
c.4447G>T (p.Ala1483Ser)
c.2197G>T (p.Ala733Ser)
c.3160G>T (p.Ala1054Ser)
1g.197093144C=CA1217926697ASPMn.2489G=
c.9202G= (p.Ala3068=)
c.9424G= (p.Ala3142=)
c.4447G= (p.Ala1483=)
c.2197G= (p.Ala733=)
c.3160G= (p.Ala1054=)
1g.197093144C>GCA344007082ASPMn.2489G>C
c.9202G>C (p.Ala3068Pro)
c.9424G>C (p.Ala3142Pro)
c.4447G>C (p.Ala1483Pro)
c.2197G>C (p.Ala733Pro)
c.3160G>C (p.Ala1054Pro)
 ClinVar dbSNP gnomAD v4
1g.197093144C>TCA344007084ASPMn.2489G>A
c.9202G>A (p.Ala3068Thr)
c.9424G>A (p.Ala3142Thr)
c.4447G>A (p.Ala1483Thr)
c.2197G>A (p.Ala733Thr)
c.3160G>A (p.Ala1054Thr)
1g.197093145C>ACA344007088ASPMn.2488G>T
c.9201G>T (p.Glu3067Asp)
c.9423G>T (p.Glu3141Asp)
c.4446G>T (p.Glu1482Asp)
c.2196G>T (p.Glu732Asp)
c.3159G>T (p.Glu1053Asp)
1g.197093145C>GCA344007090ASPMn.2488G>C
c.9201G>C (p.Glu3067Asp)
c.9423G>C (p.Glu3141Asp)
c.4446G>C (p.Glu1482Asp)
c.2196G>C (p.Glu732Asp)
c.3159G>C (p.Glu1053Asp)
1g.197093145C>TCA422673048ASPMn.2488G>A
c.9201G>A (p.Glu3067=)
c.9423G>A (p.Glu3141=)
c.4446G>A (p.Glu1482=)
c.2196G>A (p.Glu732=)
c.3159G>A (p.Glu1053=)
1g.197093146T>ACA344007103ASPMn.2487A>T
c.9200A>T (p.Glu3067Val)
c.9422A>T (p.Glu3141Val)
c.4445A>T (p.Glu1482Val)
c.2195A>T (p.Glu732Val)
c.3158A>T (p.Glu1053Val)
1g.197093146T>CCA344007097ASPMn.2487A>G
c.9200A>G (p.Glu3067Gly)
c.9422A>G (p.Glu3141Gly)
c.4445A>G (p.Glu1482Gly)
c.2195A>G (p.Glu732Gly)
c.3158A>G (p.Glu1053Gly)
1g.197093146T>GCA344007100ASPMn.2487A>C
c.9200A>C (p.Glu3067Ala)
c.9422A>C (p.Glu3141Ala)
c.4445A>C (p.Glu1482Ala)
c.2195A>C (p.Glu732Ala)
c.3158A>C (p.Glu1053Ala)
1g.197093147C>ACA344007106ASPMn.2486G>T
c.9199G>T (p.Glu3067Ter)
c.9421G>T (p.Glu3141Ter)
c.4444G>T (p.Glu1482Ter)
c.2194G>T (p.Glu732Ter)
c.3157G>T (p.Glu1053Ter)
1g.197093147C=CA1217926698ASPMn.2486G=
c.9199G= (p.Glu3067=)
c.9421G= (p.Glu3141=)
c.4444G= (p.Glu1482=)
c.2194G= (p.Glu732=)
c.3157G= (p.Glu1053=)
1g.197093147C>GCA344007107ASPMn.2486G>C
c.9199G>C (p.Glu3067Gln)
c.9421G>C (p.Glu3141Gln)
c.4444G>C (p.Glu1482Gln)
c.2194G>C (p.Glu732Gln)
c.3157G>C (p.Glu1053Gln)
1g.197093147C>TCA1309014ASPMn.2486G>A
c.9199G>A (p.Glu3067Lys)
c.9421G>A (p.Glu3141Lys)
c.4444G>A (p.Glu1482Lys)
c.2194G>A (p.Glu732Lys)
c.3157G>A (p.Glu1053Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197093148C>ACA344007112ASPMn.2485G>T
c.9198G>T (p.Arg3066Ser)
c.9420G>T (p.Arg3140Ser)
c.4443G>T (p.Arg1481Ser)
c.2193G>T (p.Arg731Ser)
c.3156G>T (p.Arg1052Ser)
1g.197093148C=CA1217926699ASPMn.2485G=
c.9198G= (p.Arg3066=)
c.9420G= (p.Arg3140=)
c.4443G= (p.Arg1481=)
c.2193G= (p.Arg731=)
c.3156G= (p.Arg1052=)
1g.197093148C>GCA344007114ASPMn.2485G>C
c.9198G>C (p.Arg3066Ser)
c.9420G>C (p.Arg3140Ser)
c.4443G>C (p.Arg1481Ser)
c.2193G>C (p.Arg731Ser)
c.3156G>C (p.Arg1052Ser)
1g.197093148C>TCA1309015ASPMn.2485G>A
c.9198G>A (p.Arg3066=)
c.9420G>A (p.Arg3140=)
c.4443G>A (p.Arg1481=)
c.2193G>A (p.Arg731=)
c.3156G>A (p.Arg1052=)
 dbSNP ExAC gnomAD v2
1g.197093149C>ACA344007120ASPMn.2484G>T
c.9197G>T (p.Arg3066Met)
c.9419G>T (p.Arg3140Met)
c.4442G>T (p.Arg1481Met)
c.2192G>T (p.Arg731Met)
c.3155G>T (p.Arg1052Met)
1g.197093149C=CA1217926700ASPMn.2484G=
c.9197G= (p.Arg3066=)
c.9419G= (p.Arg3140=)
c.4442G= (p.Arg1481=)
c.2192G= (p.Arg731=)
c.3155G= (p.Arg1052=)
1g.197093149C>GCA344007122ASPMn.2484G>C
c.9197G>C (p.Arg3066Thr)
c.9419G>C (p.Arg3140Thr)
c.4442G>C (p.Arg1481Thr)
c.2192G>C (p.Arg731Thr)
c.3155G>C (p.Arg1052Thr)
1g.197093149C>TCA344007118ASPMn.2484G>A
c.9197G>A (p.Arg3066Lys)
c.9419G>A (p.Arg3140Lys)
c.4442G>A (p.Arg1481Lys)
c.2192G>A (p.Arg731Lys)
c.3155G>A (p.Arg1052Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.197093150T>ACA344007125ASPMn.2483A>T
c.9196A>T (p.Arg3066Trp)
c.9418A>T (p.Arg3140Trp)
c.4441A>T (p.Arg1481Trp)
c.2191A>T (p.Arg731Trp)
c.3154A>T (p.Arg1052Trp)
1g.197093150T>CCA344007127ASPMn.2483A>G
c.9196A>G (p.Arg3066Gly)
c.9418A>G (p.Arg3140Gly)
c.4441A>G (p.Arg1481Gly)
c.2191A>G (p.Arg731Gly)
c.3154A>G (p.Arg1052Gly)
1g.197093150T>GCA422673063ASPMn.2483A>C
c.9196A>C (p.Arg3066=)
c.9418A>C (p.Arg3140=)
c.4441A>C (p.Arg1481=)
c.2191A>C (p.Arg731=)
c.3154A>C (p.Arg1052=)
1g.197093151G>ACA422673065ASPMn.2482C>T
c.9195C>T (p.Ala3065=)
c.9417C>T (p.Ala3139=)
c.4440C>T (p.Ala1480=)
c.2190C>T (p.Ala730=)
c.3153C>T (p.Ala1051=)
 gnomAD v4
1g.197093151G>CCA422673067ASPMn.2482C>G
c.9195C>G (p.Ala3065=)
c.9417C>G (p.Ala3139=)
c.4440C>G (p.Ala1480=)
c.2190C>G (p.Ala730=)
c.3153C>G (p.Ala1051=)
1g.197093151G>TCA422673069ASPMn.2482C>A
c.9195C>A (p.Ala3065=)
c.9417C>A (p.Ala3139=)
c.4440C>A (p.Ala1480=)
c.2190C>A (p.Ala730=)
c.3153C>A (p.Ala1051=)
1g.197093152G>ACA1309016ASPMn.2481C>T
c.9194C>T (p.Ala3065Val)
c.9416C>T (p.Ala3139Val)
c.4439C>T (p.Ala1480Val)
c.2189C>T (p.Ala730Val)
c.3152C>T (p.Ala1051Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197093152G>CCA344007133ASPMn.2481C>G
c.9194C>G (p.Ala3065Gly)
c.9416C>G (p.Ala3139Gly)
c.4439C>G (p.Ala1480Gly)
c.2189C>G (p.Ala730Gly)
c.3152C>G (p.Ala1051Gly)
1g.197093152G=CA1148713304ASPMn.2481C=
c.9194C= (p.Ala3065=)
c.9416C= (p.Ala3139=)
c.4439C= (p.Ala1480=)
c.2189C= (p.Ala730=)
c.3152C= (p.Ala1051=)
1g.197093152G>TCA344007131ASPMn.2481C>A
c.9194C>A (p.Ala3065Asp)
c.9416C>A (p.Ala3139Asp)
c.4439C>A (p.Ala1480Asp)
c.2189C>A (p.Ala730Asp)
c.3152C>A (p.Ala1051Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197093153C>ACA344007136ASPMn.2480G>T
c.9193G>T (p.Ala3065Ser)
c.9415G>T (p.Ala3139Ser)
c.4438G>T (p.Ala1480Ser)
c.2188G>T (p.Ala730Ser)
c.3151G>T (p.Ala1051Ser)
1g.197093153C>GCA344007139ASPMn.2480G>C
c.9193G>C (p.Ala3065Pro)
c.9415G>C (p.Ala3139Pro)
c.4438G>C (p.Ala1480Pro)
c.2188G>C (p.Ala730Pro)
c.3151G>C (p.Ala1051Pro)
1g.197093153C>TCA344007141ASPMn.2480G>A
c.9193G>A (p.Ala3065Thr)
c.9415G>A (p.Ala3139Thr)
c.4438G>A (p.Ala1480Thr)
c.2188G>A (p.Ala730Thr)
c.3151G>A (p.Ala1051Thr)
1g.197093154T>ACA422673075ASPMn.2479A>T
c.9192A>T (p.Arg3064=)
c.9414A>T (p.Arg3138=)
c.4437A>T (p.Arg1479=)
c.2187A>T (p.Arg729=)
c.3150A>T (p.Arg1050=)
 gnomAD v4
1g.197093154T>CCA1309017ASPMn.2479A>G
c.9192A>G (p.Arg3064=)
c.9414A>G (p.Arg3138=)
c.4437A>G (p.Arg1479=)
c.2187A>G (p.Arg729=)
c.3150A>G (p.Arg1050=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197093154T>GCA422673078ASPMn.2479A>C
c.9192A>C (p.Arg3064=)
c.9414A>C (p.Arg3138=)
c.4437A>C (p.Arg1479=)
c.2187A>C (p.Arg729=)
c.3150A>C (p.Arg1050=)
1g.197093154T=CA1143954433ASPMn.2479A=
c.9192A= (p.Arg3064=)
c.9414A= (p.Arg3138=)
c.4437A= (p.Arg1479=)
c.2187A= (p.Arg729=)
c.3150A= (p.Arg1050=)
1g.197093155C>ACA344007145ASPMn.2478G>T
c.9191G>T (p.Arg3064Leu)
c.9413G>T (p.Arg3138Leu)
c.4436G>T (p.Arg1479Leu)
c.2186G>T (p.Arg729Leu)
c.3149G>T (p.Arg1050Leu)
 gnomAD v4
1g.197093155C=CA1217926701ASPMn.2478G=
c.9191G= (p.Arg3064=)
c.9413G= (p.Arg3138=)
c.4436G= (p.Arg1479=)
c.2186G= (p.Arg729=)
c.3149G= (p.Arg1050=)
1g.197093155C>GCA1309018ASPMn.2478G>C
c.9191G>C (p.Arg3064Pro)
c.9413G>C (p.Arg3138Pro)
c.4436G>C (p.Arg1479Pro)
c.2186G>C (p.Arg729Pro)
c.3149G>C (p.Arg1050Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197093155C>TCA344007148ASPMn.2478G>A
c.9191G>A (p.Arg3064Gln)
c.9413G>A (p.Arg3138Gln)
c.4436G>A (p.Arg1479Gln)
c.2186G>A (p.Arg729Gln)
c.3149G>A (p.Arg1050Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197093156G>ACA342289ASPMn.2477C>T
c.9190C>T (p.Arg3064Ter)
c.9412C>T (p.Arg3138Ter)
c.4435C>T (p.Arg1479Ter)
c.2185C>T (p.Arg729Ter)
c.3148C>T (p.Arg1050Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197093156G>CCA344007152ASPMn.2477C>G
c.9190C>G (p.Arg3064Gly)
c.9412C>G (p.Arg3138Gly)
c.4435C>G (p.Arg1479Gly)
c.2185C>G (p.Arg729Gly)
c.3148C>G (p.Arg1050Gly)
1g.197093156G=CA1143355794ASPMn.2477C=
c.9190C= (p.Arg3064=)
c.9412C= (p.Arg3138=)
c.4435C= (p.Arg1479=)
c.2185C= (p.Arg729=)
c.3148C= (p.Arg1050=)
1g.197093156G>TCA422673085ASPMn.2477C>A
c.9190C>A (p.Arg3064=)
c.9412C>A (p.Arg3138=)
c.4435C>A (p.Arg1479=)
c.2185C>A (p.Arg729=)
c.3148C>A (p.Arg1050=)
 gnomAD v4
1g.197093157T>ACA422673090ASPMn.2476A>T
c.9189A>T (p.Ile3063=)
c.9411A>T (p.Ile3137=)
c.4434A>T (p.Ile1478=)
c.2184A>T (p.Ile728=)
c.3147A>T (p.Ile1049=)
1g.197093157T>CCA1309019ASPMn.2476A>G
c.9189A>G (p.Ile3063Met)
c.9411A>G (p.Ile3137Met)
c.4434A>G (p.Ile1478Met)
c.2184A>G (p.Ile728Met)
c.3147A>G (p.Ile1049Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197093157T>GCA422673088ASPMn.2476A>C
c.9189A>C (p.Ile3063=)
c.9411A>C (p.Ile3137=)
c.4434A>C (p.Ile1478=)
c.2184A>C (p.Ile728=)
c.3147A>C (p.Ile1049=)
1g.197093157T=CA1217926702ASPMn.2476A=
c.9189A= (p.Ile3063=)
c.9411A= (p.Ile3137=)
c.4434A= (p.Ile1478=)
c.2184A= (p.Ile728=)
c.3147A= (p.Ile1049=)
1g.197093158A>CCA344007156ASPMn.2475T>G
c.9188T>G (p.Ile3063Arg)
c.9410T>G (p.Ile3137Arg)
c.4433T>G (p.Ile1478Arg)
c.2183T>G (p.Ile728Arg)
c.3146T>G (p.Ile1049Arg)
1g.197093158A>GCA344007159ASPMn.2475T>C
c.9188T>C (p.Ile3063Thr)
c.9410T>C (p.Ile3137Thr)
c.4433T>C (p.Ile1478Thr)
c.2183T>C (p.Ile728Thr)
c.3146T>C (p.Ile1049Thr)
 gnomAD v4
1g.197093158A>TCA344007160ASPMn.2475T>A
c.9188T>A (p.Ile3063Lys)
c.9410T>A (p.Ile3137Lys)
c.4433T>A (p.Ile1478Lys)
c.2183T>A (p.Ile728Lys)
c.3146T>A (p.Ile1049Lys)
1g.197093159T>ACA344007163ASPMn.2474A>T
c.9187A>T (p.Ile3063Leu)
c.9409A>T (p.Ile3137Leu)
c.4432A>T (p.Ile1478Leu)
c.2182A>T (p.Ile728Leu)
c.3145A>T (p.Ile1049Leu)
 dbSNP gnomAD v4
1g.197093159T>CCA344007168ASPMn.2474A>G
c.9187A>G (p.Ile3063Val)
c.9409A>G (p.Ile3137Val)
c.4432A>G (p.Ile1478Val)
c.2182A>G (p.Ile728Val)
c.3145A>G (p.Ile1049Val)
 dbSNP gnomAD v3 gnomAD v4
1g.197093159T>GCA344007166ASPMn.2474A>C
c.9187A>C (p.Ile3063Leu)
c.9409A>C (p.Ile3137Leu)
c.4432A>C (p.Ile1478Leu)
c.2182A>C (p.Ile728Leu)
c.3145A>C (p.Ile1049Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.197093159T=CA1217926703ASPMn.2474A=
c.9187A= (p.Ile3063=)
c.9409A= (p.Ile3137=)
c.4432A= (p.Ile1478=)
c.2182A= (p.Ile728=)
c.3145A= (p.Ile1049=)
1g.197093160A=CA1217926704ASPMn.2473T=
c.9186T= (p.Tyr3062=)
c.9408T= (p.Tyr3136=)
c.4431T= (p.Tyr1477=)
c.2181T= (p.Tyr727=)
c.3144T= (p.Tyr1048=)
1g.197093160A>CCA344007170ASPMn.2473T>G
c.9186T>G (p.Tyr3062Ter)
c.9408T>G (p.Tyr3136Ter)
c.4431T>G (p.Tyr1477Ter)
c.2181T>G (p.Tyr727Ter)
c.3144T>G (p.Tyr1048Ter)
1g.197093160A>GCA422673100ASPMn.2473T>C
c.9186T>C (p.Tyr3062=)
c.9408T>C (p.Tyr3136=)
c.4431T>C (p.Tyr1477=)
c.2181T>C (p.Tyr727=)
c.3144T>C (p.Tyr1048=)
 ClinVar dbSNP
1g.197093160A>TCA344007172ASPMn.2473T>A
c.9186T>A (p.Tyr3062Ter)
c.9408T>A (p.Tyr3136Ter)
c.4431T>A (p.Tyr1477Ter)
c.2181T>A (p.Tyr727Ter)
c.3144T>A (p.Tyr1048Ter)
1g.197093161T>ACA344007176ASPMn.2472A>T
c.9185A>T (p.Tyr3062Phe)
c.9407A>T (p.Tyr3136Phe)
c.4430A>T (p.Tyr1477Phe)
c.2180A>T (p.Tyr727Phe)
c.3143A>T (p.Tyr1048Phe)
1g.197093161T>CCA344007178ASPMn.2472A>G
c.9185A>G (p.Tyr3062Cys)
c.9407A>G (p.Tyr3136Cys)
c.4430A>G (p.Tyr1477Cys)
c.2180A>G (p.Tyr727Cys)
c.3143A>G (p.Tyr1048Cys)
 dbSNP gnomAD v2 gnomAD v4
1g.197093161T>GCA344007181ASPMn.2472A>C
c.9185A>C (p.Tyr3062Ser)
c.9407A>C (p.Tyr3136Ser)
c.4430A>C (p.Tyr1477Ser)
c.2180A>C (p.Tyr727Ser)
c.3143A>C (p.Tyr1048Ser)
1g.197093161T=CA1217926705ASPMn.2472A=
c.9185A= (p.Tyr3062=)
c.9407A= (p.Tyr3136=)
c.4430A= (p.Tyr1477=)
c.2180A= (p.Tyr727=)
c.3143A= (p.Tyr1048=)
1g.197093162A=CA1217926706ASPMn.2471T=
c.9184T= (p.Tyr3062=)
c.9406T= (p.Tyr3136=)
c.4429T= (p.Tyr1477=)
c.2179T= (p.Tyr727=)
c.3142T= (p.Tyr1048=)
1g.197093162A>CCA344007184ASPMn.2471T>G
c.9184T>G (p.Tyr3062Asp)
c.9406T>G (p.Tyr3136Asp)
c.4429T>G (p.Tyr1477Asp)
c.2179T>G (p.Tyr727Asp)
c.3142T>G (p.Tyr1048Asp)
1g.197093162A>GCA344007187ASPMn.2471T>C
c.9184T>C (p.Tyr3062His)
c.9406T>C (p.Tyr3136His)
c.4429T>C (p.Tyr1477His)
c.2179T>C (p.Tyr727His)
c.3142T>C (p.Tyr1048His)
 dbSNP gnomAD v3 gnomAD v4
1g.197093162A>TCA344007190ASPMn.2471T>A
c.9184T>A (p.Tyr3062Asn)
c.9406T>A (p.Tyr3136Asn)
c.4429T>A (p.Tyr1477Asn)
c.2179T>A (p.Tyr727Asn)
c.3142T>A (p.Tyr1048Asn)
1g.197093163T>ACA344007193ASPMn.2470A>T
c.9183A>T (p.Lys3061Asn)
c.9405A>T (p.Lys3135Asn)
c.4428A>T (p.Lys1476Asn)
c.2178A>T (p.Lys726Asn)
c.3141A>T (p.Lys1047Asn)
1g.197093163T>CCA422673111ASPMn.2470A>G
c.9183A>G (p.Lys3061=)
c.9405A>G (p.Lys3135=)
c.4428A>G (p.Lys1476=)
c.2178A>G (p.Lys726=)
c.3141A>G (p.Lys1047=)
1g.197093163T>GCA344007195ASPMn.2470A>C
c.9183A>C (p.Lys3061Asn)
c.9405A>C (p.Lys3135Asn)
c.4428A>C (p.Lys1476Asn)
c.2178A>C (p.Lys726Asn)
c.3141A>C (p.Lys1047Asn)
1g.197093164T>ACA344007203ASPMn.2469A>T
c.9182A>T (p.Lys3061Ile)
c.9404A>T (p.Lys3135Ile)
c.4427A>T (p.Lys1476Ile)
c.2177A>T (p.Lys726Ile)
c.3140A>T (p.Lys1047Ile)
1g.197093164T>CCA344007200ASPMn.2469A>G
c.9182A>G (p.Lys3061Arg)
c.9404A>G (p.Lys3135Arg)
c.4427A>G (p.Lys1476Arg)
c.2177A>G (p.Lys726Arg)
c.3140A>G (p.Lys1047Arg)
1g.197093164T>GCA344007198ASPMn.2469A>C
c.9182A>C (p.Lys3061Thr)
c.9404A>C (p.Lys3135Thr)
c.4427A>C (p.Lys1476Thr)
c.2177A>C (p.Lys726Thr)
c.3140A>C (p.Lys1047Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.197093164T=CA1217926707ASPMn.2469A=
c.9182A= (p.Lys3061=)
c.9404A= (p.Lys3135=)
c.4427A= (p.Lys1476=)
c.2177A= (p.Lys726=)
c.3140A= (p.Lys1047=)
1g.197093165T>ACA344007204ASPMn.2468A>T
c.9181A>T (p.Lys3061Ter)
c.9403A>T (p.Lys3135Ter)
c.4426A>T (p.Lys1476Ter)
c.2176A>T (p.Lys726Ter)
c.3139A>T (p.Lys1047Ter)
1g.197093165T>CCA344007206ASPMn.2468A>G
c.9181A>G (p.Lys3061Glu)
c.9403A>G (p.Lys3135Glu)
c.4426A>G (p.Lys1476Glu)
c.2176A>G (p.Lys726Glu)
c.3139A>G (p.Lys1047Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197093165T>GCA344007210ASPMn.2468A>C
c.9181A>C (p.Lys3061Gln)
c.9403A>C (p.Lys3135Gln)
c.4426A>C (p.Lys1476Gln)
c.2176A>C (p.Lys726Gln)
c.3139A>C (p.Lys1047Gln)
1g.197093165T=CA1217926708ASPMn.2468A=
c.9181A= (p.Lys3061=)
c.9403A= (p.Lys3135=)
c.4426A= (p.Lys1476=)
c.2176A= (p.Lys726=)
c.3139A= (p.Lys1047=)
1g.197093166T>ACA344007212ASPMn.2467A>T
c.9180A>T (p.Gln3060His)
c.9402A>T (p.Gln3134His)
c.4425A>T (p.Gln1475His)
c.2175A>T (p.Gln725His)
c.3138A>T (p.Gln1046His)
1g.197093166T>CCA422673120ASPMn.2467A>G
c.9180A>G (p.Gln3060=)
c.9402A>G (p.Gln3134=)
c.4425A>G (p.Gln1475=)
c.2175A>G (p.Gln725=)
c.3138A>G (p.Gln1046=)
1g.197093166T>GCA344007214ASPMn.2467A>C
c.9180A>C (p.Gln3060His)
c.9402A>C (p.Gln3134His)
c.4425A>C (p.Gln1475His)
c.2175A>C (p.Gln725His)
c.3138A>C (p.Gln1046His)
1g.197093167T>ACA344007218ASPMn.2466A>T
c.9179A>T (p.Gln3060Leu)
c.9401A>T (p.Gln3134Leu)
c.4424A>T (p.Gln1475Leu)
c.2174A>T (p.Gln725Leu)
c.3137A>T (p.Gln1046Leu)
1g.197093167T>CCA344007220ASPMn.2466A>G
c.9179A>G (p.Gln3060Arg)
c.9401A>G (p.Gln3134Arg)
c.4424A>G (p.Gln1475Arg)
c.2174A>G (p.Gln725Arg)
c.3137A>G (p.Gln1046Arg)
1g.197093167T>GCA344007223ASPMn.2466A>C
c.9179A>C (p.Gln3060Pro)
c.9401A>C (p.Gln3134Pro)
c.4424A>C (p.Gln1475Pro)
c.2174A>C (p.Gln725Pro)
c.3137A>C (p.Gln1046Pro)
1g.197093168delCA2649661167ASPMn.2465del
c.9178del (p.Gln3060LysfsTer15)
c.9400del (p.Gln3134LysfsTer15)
c.4423del (p.Gln1475LysfsTer15)
c.2173del (p.Gln725LysfsTer15)
c.3136del (p.Gln1046LysfsTer15)
 gnomAD v4
1g.197093168G>ACA340325ASPMn.2465C>T
c.9178C>T (p.Gln3060Ter)
c.9400C>T (p.Gln3134Ter)
c.4423C>T (p.Gln1475Ter)
c.2173C>T (p.Gln725Ter)
c.3136C>T (p.Gln1046Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197093168G>CCA344007229ASPMn.2465C>G
c.9178C>G (p.Gln3060Glu)
c.9400C>G (p.Gln3134Glu)
c.4423C>G (p.Gln1475Glu)
c.2173C>G (p.Gln725Glu)
c.3136C>G (p.Gln1046Glu)
1g.197093168G=CA1141581331ASPMn.2465C=
c.9178C= (p.Gln3060=)
c.9400C= (p.Gln3134=)
c.4423C= (p.Gln1475=)
c.2173C= (p.Gln725=)
c.3136C= (p.Gln1046=)
1g.197093168G>TCA344007231ASPMn.2465C>A
c.9178C>A (p.Gln3060Lys)
c.9400C>A (p.Gln3134Lys)
c.4423C>A (p.Gln1475Lys)
c.2173C>A (p.Gln725Lys)
c.3136C>A (p.Gln1046Lys)
1g.197093169T>ACA422673127ASPMn.2464A>T
c.9177A>T (p.Ile3059=)
c.9399A>T (p.Ile3133=)
c.4422A>T (p.Ile1474=)
c.2172A>T (p.Ile724=)
c.3135A>T (p.Ile1045=)
 gnomAD v4
1g.197093169T>CCA344007233ASPMn.2464A>G
c.9177A>G (p.Ile3059Met)
c.9399A>G (p.Ile3133Met)
c.4422A>G (p.Ile1474Met)
c.2172A>G (p.Ile724Met)
c.3135A>G (p.Ile1045Met)
 gnomAD v4
1g.197093169T>GCA422673129ASPMn.2464A>C
c.9177A>C (p.Ile3059=)
c.9399A>C (p.Ile3133=)
c.4422A>C (p.Ile1474=)
c.2172A>C (p.Ile724=)
c.3135A>C (p.Ile1045=)
1g.197093170A=CA1217926709ASPMn.2463T=
c.9176T= (p.Ile3059=)
c.9398T= (p.Ile3133=)
c.4421T= (p.Ile1474=)
c.2171T= (p.Ile724=)
c.3134T= (p.Ile1045=)
1g.197093170A>CCA344007240ASPMn.2463T>G
c.9176T>G (p.Ile3059Arg)
c.9398T>G (p.Ile3133Arg)
c.4421T>G (p.Ile1474Arg)
c.2171T>G (p.Ile724Arg)
c.3134T>G (p.Ile1045Arg)
1g.197093170A>GCA344007238ASPMn.2463T>C
c.9176T>C (p.Ile3059Thr)
c.9398T>C (p.Ile3133Thr)
c.4421T>C (p.Ile1474Thr)
c.2171T>C (p.Ile724Thr)
c.3134T>C (p.Ile1045Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197093170A>TCA1309020ASPMn.2463T>A
c.9176T>A (p.Ile3059Lys)
c.9398T>A (p.Ile3133Lys)
c.4421T>A (p.Ile1474Lys)
c.2171T>A (p.Ile724Lys)
c.3134T>A (p.Ile1045Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197093171T>ACA344007244ASPMn.2462A>T
c.9175A>T (p.Ile3059Leu)
c.9397A>T (p.Ile3133Leu)
c.4420A>T (p.Ile1474Leu)
c.2170A>T (p.Ile724Leu)
c.3133A>T (p.Ile1045Leu)
1g.197093171T>CCA1309021ASPMn.2462A>G
c.9175A>G (p.Ile3059Val)
c.9397A>G (p.Ile3133Val)
c.4420A>G (p.Ile1474Val)
c.2170A>G (p.Ile724Val)
c.3133A>G (p.Ile1045Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197093171T>GCA344007248ASPMn.2462A>C
c.9175A>C (p.Ile3059Leu)
c.9397A>C (p.Ile3133Leu)
c.4420A>C (p.Ile1474Leu)
c.2170A>C (p.Ile724Leu)
c.3133A>C (p.Ile1045Leu)
1g.197093171T=CA1217926710ASPMn.2462A=
c.9175A= (p.Ile3059=)
c.9397A= (p.Ile3133=)
c.4420A= (p.Ile1474=)
c.2170A= (p.Ile724=)
c.3133A= (p.Ile1045=)
1g.197093172G>ACA422673136ASPMn.2461C>T
c.9174C>T (p.Ile3058=)
c.9396C>T (p.Ile3132=)
c.4419C>T (p.Ile1473=)
c.2169C>T (p.Ile723=)
c.3132C>T (p.Ile1044=)
1g.197093172G>CCA1309022ASPMn.2461C>G
c.9174C>G (p.Ile3058Met)
c.9396C>G (p.Ile3132Met)
c.4419C>G (p.Ile1473Met)
c.2169C>G (p.Ile723Met)
c.3132C>G (p.Ile1044Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197093172G=CA1217926711ASPMn.2461C=
c.9174C= (p.Ile3058=)
c.9396C= (p.Ile3132=)
c.4419C= (p.Ile1473=)
c.2169C= (p.Ile723=)
c.3132C= (p.Ile1044=)
1g.197093172G>TCA422673139ASPMn.2461C>A
c.9174C>A (p.Ile3058=)
c.9396C>A (p.Ile3132=)
c.4419C>A (p.Ile1473=)
c.2169C>A (p.Ile723=)
c.3132C>A (p.Ile1044=)
 gnomAD v4
1g.197093173A>CCA344007253ASPMn.2460T>G
c.9173T>G (p.Ile3058Ser)
c.9395T>G (p.Ile3132Ser)
c.4418T>G (p.Ile1473Ser)
c.2168T>G (p.Ile723Ser)
c.3131T>G (p.Ile1044Ser)
1g.197093173A>GCA344007256ASPMn.2460T>C
c.9173T>C (p.Ile3058Thr)
c.9395T>C (p.Ile3132Thr)
c.4418T>C (p.Ile1473Thr)
c.2168T>C (p.Ile723Thr)
c.3131T>C (p.Ile1044Thr)
1g.197093173A>TCA344007258ASPMn.2460T>A
c.9173T>A (p.Ile3058Asn)
c.9395T>A (p.Ile3132Asn)
c.4418T>A (p.Ile1473Asn)
c.2168T>A (p.Ile723Asn)
c.3131T>A (p.Ile1044Asn)
1g.197093174T>ACA344007261ASPMn.2459A>T
c.9172A>T (p.Ile3058Phe)
c.9394A>T (p.Ile3132Phe)
c.4417A>T (p.Ile1473Phe)
c.2167A>T (p.Ile723Phe)
c.3130A>T (p.Ile1044Phe)
1g.197093174T>CCA344007267ASPMn.2459A>G
c.9172A>G (p.Ile3058Val)
c.9394A>G (p.Ile3132Val)
c.4417A>G (p.Ile1473Val)
c.2167A>G (p.Ile723Val)
c.3130A>G (p.Ile1044Val)
 dbSNP gnomAD v2 gnomAD v4
1g.197093174T>GCA344007270ASPMn.2459A>C
c.9172A>C (p.Ile3058Leu)
c.9394A>C (p.Ile3132Leu)
c.4417A>C (p.Ile1473Leu)
c.2167A>C (p.Ile723Leu)
c.3130A>C (p.Ile1044Leu)
1g.197093174T=CA1217926712ASPMn.2459A=
c.9172A= (p.Ile3058=)
c.9394A= (p.Ile3132=)
c.4417A= (p.Ile1473=)
c.2167A= (p.Ile723=)
c.3130A= (p.Ile1044=)
1g.197093175C>ACA344007272ASPMn.2458G>T
c.9171G>T (p.Leu3057Phe)
c.9393G>T (p.Leu3131Phe)
c.4416G>T (p.Leu1472Phe)
c.2166G>T (p.Leu722Phe)
c.3129G>T (p.Leu1043Phe)
 gnomAD v4
1g.197093175C>GCA344007274ASPMn.2458G>C
c.9171G>C (p.Leu3057Phe)
c.9393G>C (p.Leu3131Phe)
c.4416G>C (p.Leu1472Phe)
c.2166G>C (p.Leu722Phe)
c.3129G>C (p.Leu1043Phe)
1g.197093175C>TCA422673149ASPMn.2458G>A
c.9171G>A (p.Leu3057=)
c.9393G>A (p.Leu3131=)
c.4416G>A (p.Leu1472=)
c.2166G>A (p.Leu722=)
c.3129G>A (p.Leu1043=)
 gnomAD v4
1g.197093176A>CCA344007283ASPMn.2457T>G
c.9170T>G (p.Leu3057Trp)
c.9392T>G (p.Leu3131Trp)
c.4415T>G (p.Leu1472Trp)
c.2165T>G (p.Leu722Trp)
c.3128T>G (p.Leu1043Trp)
1g.197093176A>GCA344007281ASPMn.2457T>C
c.9170T>C (p.Leu3057Ser)
c.9392T>C (p.Leu3131Ser)
c.4415T>C (p.Leu1472Ser)
c.2165T>C (p.Leu722Ser)
c.3128T>C (p.Leu1043Ser)
1g.197093176A>TCA344007278ASPMn.2457T>A
c.9170T>A (p.Leu3057Ter)
c.9392T>A (p.Leu3131Ter)
c.4415T>A (p.Leu1472Ter)
c.2165T>A (p.Leu722Ter)
c.3128T>A (p.Leu1043Ter)
1g.197093178delCA2573975351ASPMn.2457del
c.9170del (p.Leu3057Ter)
c.9392del (p.Leu3131Ter)
c.4415del (p.Leu1472Ter)
c.2165del (p.Leu722Ter)
c.3128del (p.Leu1043Ter)
1g.197093177A>CCA344007286ASPMn.2456T>G
c.9169T>G (p.Leu3057Val)
c.9391T>G (p.Leu3131Val)
c.4414T>G (p.Leu1472Val)
c.2164T>G (p.Leu722Val)
c.3127T>G (p.Leu1043Val)
1g.197093177A>GCA422673155ASPMn.2456T>C
c.9169T>C (p.Leu3057=)
c.9391T>C (p.Leu3131=)
c.4414T>C (p.Leu1472=)
c.2164T>C (p.Leu722=)
c.3127T>C (p.Leu1043=)
1g.197093177A>TCA344007289ASPMn.2456T>A
c.9169T>A (p.Leu3057Met)
c.9391T>A (p.Leu3131Met)
c.4414T>A (p.Leu1472Met)
c.2164T>A (p.Leu722Met)
c.3127T>A (p.Leu1043Met)
1g.197093177_197093180delinsAAGCCA1217926713ASPMn.2453_2456delinsGCTT
c.9166_9169delinsGCTT (p.Ala3056=)
c.9388_9391delinsGCTT (p.Ala3130=)
c.4411_4414delinsGCTT (p.Ala1471=)
c.2161_2164delinsGCTT (p.Ala721=)
c.3124_3127delinsGCTT (p.Ala1042=)
1g.197093178A=CA1143256782ASPMn.2455T=
c.9168T= (p.Ala3056=)
c.9390T= (p.Ala3130=)
c.4413T= (p.Ala1471=)
c.2163T= (p.Ala721=)
c.3126T= (p.Ala1042=)
1g.197093178A>CCA422673162ASPMn.2455T>G
c.9168T>G (p.Ala3056=)
c.9390T>G (p.Ala3130=)
c.4413T>G (p.Ala1471=)
c.2163T>G (p.Ala721=)
c.3126T>G (p.Ala1042=)
1g.197093178A>GCA422673158ASPMn.2455T>C
c.9168T>C (p.Ala3056=)
c.9390T>C (p.Ala3130=)
c.4413T>C (p.Ala1471=)
c.2163T>C (p.Ala721=)
c.3126T>C (p.Ala1042=)
1g.197093178A>TCA35863471ASPMn.2455T>A
c.9168T>A (p.Ala3056=)
c.9390T>A (p.Ala3130=)
c.4413T>A (p.Ala1471=)
c.2163T>A (p.Ala721=)
c.3126T>A (p.Ala1042=)
 dbSNP gnomAD v3 gnomAD v4
1g.197093183_197093185delCA1309023ASPMn.2453_2455del
c.9166_9168del (p.Ala3056del)
c.9388_9390del (p.Ala3130del)
c.4411_4413del (p.Ala1471del)
c.2161_2163del (p.Ala721del)
c.3124_3126del (p.Ala1042del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197093179G>ACA344007296ASPMn.2454C>T
c.9167C>T (p.Ala3056Val)
c.9389C>T (p.Ala3130Val)
c.4412C>T (p.Ala1471Val)
c.2162C>T (p.Ala721Val)
c.3125C>T (p.Ala1042Val)
 gnomAD v4
1g.197093179G>CCA344007302ASPMn.2454C>G
c.9167C>G (p.Ala3056Gly)
c.9389C>G (p.Ala3130Gly)
c.4412C>G (p.Ala1471Gly)
c.2162C>G (p.Ala721Gly)
c.3125C>G (p.Ala1042Gly)
1g.197093179G=CA1217926714ASPMn.2454C=
c.9167C= (p.Ala3056=)
c.9389C= (p.Ala3130=)
c.4412C= (p.Ala1471=)
c.2162C= (p.Ala721=)
c.3125C= (p.Ala1042=)
1g.197093179G>TCA1309024ASPMn.2454C>A
c.9167C>A (p.Ala3056Asp)
c.9389C>A (p.Ala3130Asp)
c.4412C>A (p.Ala1471Asp)
c.2162C>A (p.Ala721Asp)
c.3125C>A (p.Ala1042Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197093180C>ACA344007307ASPMn.2453G>T
c.9166G>T (p.Ala3056Ser)
c.9388G>T (p.Ala3130Ser)
c.4411G>T (p.Ala1471Ser)
c.2161G>T (p.Ala721Ser)
c.3124G>T (p.Ala1042Ser)
 dbSNP
1g.197093180C=CA1217926715ASPMn.2453G=
c.9166G= (p.Ala3056=)
c.9388G= (p.Ala3130=)
c.4411G= (p.Ala1471=)
c.2161G= (p.Ala721=)
c.3124G= (p.Ala1042=)
1g.197093180C>GCA344007304ASPMn.2453G>C
c.9166G>C (p.Ala3056Pro)
c.9388G>C (p.Ala3130Pro)
c.4411G>C (p.Ala1471Pro)
c.2161G>C (p.Ala721Pro)
c.3124G>C (p.Ala1042Pro)
1g.197093180C>TCA1309025ASPMn.2453G>A
c.9166G>A (p.Ala3056Thr)
c.9388G>A (p.Ala3130Thr)
c.4411G>A (p.Ala1471Thr)
c.2161G>A (p.Ala721Thr)
c.3124G>A (p.Ala1042Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197093181A>CCA422673170ASPMn.2452T>G
c.9165T>G (p.Ala3055=)
c.9387T>G (p.Ala3129=)
c.4410T>G (p.Ala1470=)
c.2160T>G (p.Ala720=)
c.3123T>G (p.Ala1041=)
1g.197093181A>GCA422673172ASPMn.2452T>C
c.9165T>C (p.Ala3055=)
c.9387T>C (p.Ala3129=)
c.4410T>C (p.Ala1470=)
c.2160T>C (p.Ala720=)
c.3123T>C (p.Ala1041=)
1g.197093181A>TCA422673171ASPMn.2452T>A
c.9165T>A (p.Ala3055=)
c.9387T>A (p.Ala3129=)
c.4410T>A (p.Ala1470=)
c.2160T>A (p.Ala720=)
c.3123T>A (p.Ala1041=)
1g.197093182G>ACA1309026ASPMn.2451C>T
c.9164C>T (p.Ala3055Val)
c.9386C>T (p.Ala3129Val)
c.4409C>T (p.Ala1470Val)
c.2159C>T (p.Ala720Val)
c.3122C>T (p.Ala1041Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197093182G>CCA344007311ASPMn.2451C>G
c.9164C>G (p.Ala3055Gly)
c.9386C>G (p.Ala3129Gly)
c.4409C>G (p.Ala1470Gly)
c.2159C>G (p.Ala720Gly)
c.3122C>G (p.Ala1041Gly)
1g.197093182G=CA1217926716ASPMn.2451C=
c.9164C= (p.Ala3055=)
c.9386C= (p.Ala3129=)
c.4409C= (p.Ala1470=)
c.2159C= (p.Ala720=)
c.3122C= (p.Ala1041=)
1g.197093182G>TCA344007313ASPMn.2451C>A
c.9164C>A (p.Ala3055Asp)
c.9386C>A (p.Ala3129Asp)
c.4409C>A (p.Ala1470Asp)
c.2159C>A (p.Ala720Asp)
c.3122C>A (p.Ala1041Asp)
 COSMIC
1g.197093183C>ACA344007315ASPMn.2450G>T
c.9163G>T (p.Ala3055Ser)
c.9385G>T (p.Ala3129Ser)
c.4408G>T (p.Ala1470Ser)
c.2158G>T (p.Ala720Ser)
c.3121G>T (p.Ala1041Ser)
1g.197093183C>GCA344007317ASPMn.2450G>C
c.9163G>C (p.Ala3055Pro)
c.9385G>C (p.Ala3129Pro)
c.4408G>C (p.Ala1470Pro)
c.2158G>C (p.Ala720Pro)
c.3121G>C (p.Ala1041Pro)
1g.197093183C>TCA344007319ASPMn.2450G>A
c.9163G>A (p.Ala3055Thr)
c.9385G>A (p.Ala3129Thr)
c.4408G>A (p.Ala1470Thr)
c.2158G>A (p.Ala720Thr)
c.3121G>A (p.Ala1041Thr)

Number of alleles fetched