Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197090355T>ACA344001965ASPMn.2957A>T
c.9670A>T (p.Asn3224Tyr)
c.9892A>T (p.Asn3298Tyr)
c.9646A>T (p.Asn3216Tyr)
c.4915A>T (p.Asn1639Tyr)
c.2665A>T (p.Asn889Tyr)
c.3628A>T (p.Asn1210Tyr)
1g.197090355T>CCA344001963ASPMn.2957A>G
c.9670A>G (p.Asn3224Asp)
c.9892A>G (p.Asn3298Asp)
c.9646A>G (p.Asn3216Asp)
c.4915A>G (p.Asn1639Asp)
c.2665A>G (p.Asn889Asp)
c.3628A>G (p.Asn1210Asp)
1g.197090355T>GCA344001961ASPMn.2957A>C
c.9670A>C (p.Asn3224His)
c.9892A>C (p.Asn3298His)
c.9646A>C (p.Asn3216His)
c.4915A>C (p.Asn1639His)
c.2665A>C (p.Asn889His)
c.3628A>C (p.Asn1210His)
1g.197090356T>ACA344001968ASPMn.2956A>T
c.9669A>T (p.Lys3223Asn)
c.9891A>T (p.Lys3297Asn)
c.9645A>T (p.Lys3215Asn)
c.4914A>T (p.Lys1638Asn)
c.2664A>T (p.Lys888Asn)
c.3627A>T (p.Lys1209Asn)
1g.197090356T>CCA422672351ASPMn.2956A>G
c.9669A>G (p.Lys3223=)
c.9891A>G (p.Lys3297=)
c.9645A>G (p.Lys3215=)
c.4914A>G (p.Lys1638=)
c.2664A>G (p.Lys888=)
c.3627A>G (p.Lys1209=)
 dbSNP gnomAD v2 gnomAD v4
1g.197090356T>GCA344001970ASPMn.2956A>C
c.9669A>C (p.Lys3223Asn)
c.9891A>C (p.Lys3297Asn)
c.9645A>C (p.Lys3215Asn)
c.4914A>C (p.Lys1638Asn)
c.2664A>C (p.Lys888Asn)
c.3627A>C (p.Lys1209Asn)
1g.197090356T=CA1217925323ASPMn.2956A=
c.9669A= (p.Lys3223=)
c.9891A= (p.Lys3297=)
c.9645A= (p.Lys3215=)
c.4914A= (p.Lys1638=)
c.2664A= (p.Lys888=)
c.3627A= (p.Lys1209=)
1g.197090357T>ACA344001990ASPMn.2955A>T
c.9668A>T (p.Lys3223Ile)
c.9890A>T (p.Lys3297Ile)
c.9644A>T (p.Lys3215Ile)
c.4913A>T (p.Lys1638Ile)
c.2663A>T (p.Lys888Ile)
c.3626A>T (p.Lys1209Ile)
1g.197090357T>CCA344001991ASPMn.2955A>G
c.9668A>G (p.Lys3223Arg)
c.9890A>G (p.Lys3297Arg)
c.9644A>G (p.Lys3215Arg)
c.4913A>G (p.Lys1638Arg)
c.2663A>G (p.Lys888Arg)
c.3626A>G (p.Lys1209Arg)
 dbSNP gnomAD v4
1g.197090357T>GCA344001992ASPMn.2955A>C
c.9668A>C (p.Lys3223Thr)
c.9890A>C (p.Lys3297Thr)
c.9644A>C (p.Lys3215Thr)
c.4913A>C (p.Lys1638Thr)
c.2663A>C (p.Lys888Thr)
c.3626A>C (p.Lys1209Thr)
1g.197090357T=CA1217925324ASPMn.2955A=
c.9668A= (p.Lys3223=)
c.9890A= (p.Lys3297=)
c.9644A= (p.Lys3215=)
c.4913A= (p.Lys1638=)
c.2663A= (p.Lys888=)
c.3626A= (p.Lys1209=)
1g.197090358T>ACA344001995ASPMn.2954A>T
c.9667A>T (p.Lys3223Ter)
c.9889A>T (p.Lys3297Ter)
c.9643A>T (p.Lys3215Ter)
c.4912A>T (p.Lys1638Ter)
c.2662A>T (p.Lys888Ter)
c.3625A>T (p.Lys1209Ter)
1g.197090358T>CCA35862035ASPMn.2954A>G
c.9667A>G (p.Lys3223Glu)
c.9889A>G (p.Lys3297Glu)
c.9643A>G (p.Lys3215Glu)
c.4912A>G (p.Lys1638Glu)
c.2662A>G (p.Lys888Glu)
c.3625A>G (p.Lys1209Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.197090358T>GCA344001999ASPMn.2954A>C
c.9667A>C (p.Lys3223Gln)
c.9889A>C (p.Lys3297Gln)
c.9643A>C (p.Lys3215Gln)
c.4912A>C (p.Lys1638Gln)
c.2662A>C (p.Lys888Gln)
c.3625A>C (p.Lys1209Gln)
1g.197090358T=CA1217925327ASPMn.2954A=
c.9667A= (p.Lys3223=)
c.9889A= (p.Lys3297=)
c.9643A= (p.Lys3215=)
c.4912A= (p.Lys1638=)
c.2662A= (p.Lys888=)
c.3625A= (p.Lys1209=)
1g.197090359delCA2537186780ASPMn.2953del
c.9666del (p.Asn3224MetfsTer11)
c.9888del (p.Asn3298MetfsTer11)
c.9642del (p.Asn3216MetfsTer11)
c.4911del (p.Asn1639MetfsTer11)
c.2661del (p.Asn889MetfsTer11)
c.3624del (p.Asn1210MetfsTer11)
1g.197090359C>ACA344002001ASPMn.2953G>T
c.9666G>T (p.Lys3222Asn)
c.9888G>T (p.Lys3296Asn)
c.9642G>T (p.Lys3214Asn)
c.4911G>T (p.Lys1637Asn)
c.2661G>T (p.Lys887Asn)
c.3624G>T (p.Lys1208Asn)
1g.197090359C=CA1217925328ASPMn.2953G=
c.9666G= (p.Lys3222=)
c.9888G= (p.Lys3296=)
c.9642G= (p.Lys3214=)
c.4911G= (p.Lys1637=)
c.2661G= (p.Lys887=)
c.3624G= (p.Lys1208=)
1g.197090359C>GCA344002003ASPMn.2953G>C
c.9666G>C (p.Lys3222Asn)
c.9888G>C (p.Lys3296Asn)
c.9642G>C (p.Lys3214Asn)
c.4911G>C (p.Lys1637Asn)
c.2661G>C (p.Lys887Asn)
c.3624G>C (p.Lys1208Asn)
1g.197090359C>TCA35862038ASPMn.2953G>A
c.9666G>A (p.Lys3222=)
c.9888G>A (p.Lys3296=)
c.9642G>A (p.Lys3214=)
c.4911G>A (p.Lys1637=)
c.2661G>A (p.Lys887=)
c.3624G>A (p.Lys1208=)
 dbSNP gnomAD v2 gnomAD v4
1g.197090360T>ACA344002006ASPMn.2952A>T
c.9665A>T (p.Lys3222Met)
c.9887A>T (p.Lys3296Met)
c.9641A>T (p.Lys3214Met)
c.4910A>T (p.Lys1637Met)
c.2660A>T (p.Lys887Met)
c.3623A>T (p.Lys1208Met)
1g.197090360T>CCA344002008ASPMn.2952A>G
c.9665A>G (p.Lys3222Arg)
c.9887A>G (p.Lys3296Arg)
c.9641A>G (p.Lys3214Arg)
c.4910A>G (p.Lys1637Arg)
c.2660A>G (p.Lys887Arg)
c.3623A>G (p.Lys1208Arg)
1g.197090360T>GCA344002011ASPMn.2952A>C
c.9665A>C (p.Lys3222Thr)
c.9887A>C (p.Lys3296Thr)
c.9641A>C (p.Lys3214Thr)
c.4910A>C (p.Lys1637Thr)
c.2660A>C (p.Lys887Thr)
c.3623A>C (p.Lys1208Thr)
1g.197090360_197090363delinsTTCCCA1217925329ASPMn.2949_2952delinsGGAA
c.9662_9665delinsGGAA (p.Arg3221=)
c.9884_9887delinsGGAA (p.Arg3295=)
c.9638_9641delinsGGAA (p.Arg3213=)
c.4907_4910delinsGGAA (p.Arg1636=)
c.2657_2660delinsGGAA (p.Arg886=)
c.3620_3623delinsGGAA (p.Arg1207=)
1g.197090360_197090361insAAATACA2560292154ASPMn.2951_2952insTATTT
c.9664_9665insTATTT (p.Lys3222IlefsTer15)
c.9886_9887insTATTT (p.Lys3296IlefsTer15)
c.9640_9641insTATTT (p.Lys3214IlefsTer15)
c.4909_4910insTATTT (p.Lys1637IlefsTer15)
c.2659_2660insTATTT (p.Lys887IlefsTer15)
c.3622_3623insTATTT (p.Lys1208IlefsTer15)
1g.197090361T>ACA344002020ASPMn.2951A>T
c.9664A>T (p.Lys3222Ter)
c.9886A>T (p.Lys3296Ter)
c.9640A>T (p.Lys3214Ter)
c.4909A>T (p.Lys1637Ter)
c.2659A>T (p.Lys887Ter)
c.3622A>T (p.Lys1208Ter)
1g.197090361T>CCA344002018ASPMn.2951A>G
c.9664A>G (p.Lys3222Glu)
c.9886A>G (p.Lys3296Glu)
c.9640A>G (p.Lys3214Glu)
c.4909A>G (p.Lys1637Glu)
c.2659A>G (p.Lys887Glu)
c.3622A>G (p.Lys1208Glu)
 gnomAD v4
1g.197090361T>GCA344002016ASPMn.2951A>C
c.9664A>C (p.Lys3222Gln)
c.9886A>C (p.Lys3296Gln)
c.9640A>C (p.Lys3214Gln)
c.4909A>C (p.Lys1637Gln)
c.2659A>C (p.Lys887Gln)
c.3622A>C (p.Lys1208Gln)
1g.197090364_197090366delCA1308883ASPMn.2949_2951del
c.9662_9664del (p.Arg3221del)
c.9884_9886del (p.Arg3295del)
c.9638_9640del (p.Arg3213del)
c.4907_4909del (p.Arg1636del)
c.2657_2659del (p.Arg886del)
c.3620_3622del (p.Arg1207del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090362C>ACA344002023ASPMn.2950G>T
c.9663G>T (p.Arg3221Ser)
c.9885G>T (p.Arg3295Ser)
c.9639G>T (p.Arg3213Ser)
c.4908G>T (p.Arg1636Ser)
c.2658G>T (p.Arg886Ser)
c.3621G>T (p.Arg1207Ser)
1g.197090362C>GCA344002025ASPMn.2950G>C
c.9663G>C (p.Arg3221Ser)
c.9885G>C (p.Arg3295Ser)
c.9639G>C (p.Arg3213Ser)
c.4908G>C (p.Arg1636Ser)
c.2658G>C (p.Arg886Ser)
c.3621G>C (p.Arg1207Ser)
1g.197090362C>TCA422672355ASPMn.2950G>A
c.9663G>A (p.Arg3221=)
c.9885G>A (p.Arg3295=)
c.9639G>A (p.Arg3213=)
c.4908G>A (p.Arg1636=)
c.2658G>A (p.Arg886=)
c.3621G>A (p.Arg1207=)
 gnomAD v4
1g.197090363C>ACA344002027ASPMn.2949G>T
c.9662G>T (p.Arg3221Met)
c.9884G>T (p.Arg3295Met)
c.9638G>T (p.Arg3213Met)
c.4907G>T (p.Arg1636Met)
c.2657G>T (p.Arg886Met)
c.3620G>T (p.Arg1207Met)
1g.197090363C=CA1148224800ASPMn.2949G=
c.9662G= (p.Arg3221=)
c.9884G= (p.Arg3295=)
c.9638G= (p.Arg3213=)
c.4907G= (p.Arg1636=)
c.2657G= (p.Arg886=)
c.3620G= (p.Arg1207=)
1g.197090363C>GCA344002029ASPMn.2949G>C
c.9662G>C (p.Arg3221Thr)
c.9884G>C (p.Arg3295Thr)
c.9638G>C (p.Arg3213Thr)
c.4907G>C (p.Arg1636Thr)
c.2657G>C (p.Arg886Thr)
c.3620G>C (p.Arg1207Thr)
1g.197090363C>TCA271155ASPMn.2949G>A
c.9662G>A (p.Arg3221Lys)
c.9884G>A (p.Arg3295Lys)
c.9638G>A (p.Arg3213Lys)
c.4907G>A (p.Arg1636Lys)
c.2657G>A (p.Arg886Lys)
c.3620G>A (p.Arg1207Lys)
 ClinVar dbSNP gnomAD v4
1g.197090364T>ACA344002036ASPMn.2948A>T
c.9661A>T (p.Arg3221Trp)
c.9883A>T (p.Arg3295Trp)
c.9637A>T (p.Arg3213Trp)
c.4906A>T (p.Arg1636Trp)
c.2656A>T (p.Arg886Trp)
c.3619A>T (p.Arg1207Trp)
1g.197090364T>CCA344002034ASPMn.2948A>G
c.9661A>G (p.Arg3221Gly)
c.9883A>G (p.Arg3295Gly)
c.9637A>G (p.Arg3213Gly)
c.4906A>G (p.Arg1636Gly)
c.2656A>G (p.Arg886Gly)
c.3619A>G (p.Arg1207Gly)
1g.197090364T>GCA422672359ASPMn.2948A>C
c.9661A>C (p.Arg3221=)
c.9883A>C (p.Arg3295=)
c.9637A>C (p.Arg3213=)
c.4906A>C (p.Arg1636=)
c.2656A>C (p.Arg886=)
c.3619A>C (p.Arg1207=)
1g.197090365C>ACA344002039ASPMn.2947G>T
c.9660G>T (p.Trp3220Cys)
c.9882G>T (p.Trp3294Cys)
c.9636G>T (p.Trp3212Cys)
c.4905G>T (p.Trp1635Cys)
c.2655G>T (p.Trp885Cys)
c.3618G>T (p.Trp1206Cys)
 COSMIC
1g.197090365C>GCA344002041ASPMn.2947G>C
c.9660G>C (p.Trp3220Cys)
c.9882G>C (p.Trp3294Cys)
c.9636G>C (p.Trp3212Cys)
c.4905G>C (p.Trp1635Cys)
c.2655G>C (p.Trp885Cys)
c.3618G>C (p.Trp1206Cys)
1g.197090365C>TCA344002043ASPMn.2947G>A
c.9660G>A (p.Trp3220Ter)
c.9882G>A (p.Trp3294Ter)
c.9636G>A (p.Trp3212Ter)
c.4905G>A (p.Trp1635Ter)
c.2655G>A (p.Trp885Ter)
c.3618G>A (p.Trp1206Ter)
1g.197090366C>ACA35862040ASPMn.2946G>T
c.9659G>T (p.Trp3220Leu)
c.9881G>T (p.Trp3294Leu)
c.9635G>T (p.Trp3212Leu)
c.4904G>T (p.Trp1635Leu)
c.2654G>T (p.Trp885Leu)
c.3617G>T (p.Trp1206Leu)
 dbSNP
1g.197090366C=CA1141042162ASPMn.2946G=
c.9659G= (p.Trp3220=)
c.9881G= (p.Trp3294=)
c.9635G= (p.Trp3212=)
c.4904G= (p.Trp1635=)
c.2654G= (p.Trp885=)
c.3617G= (p.Trp1206=)
1g.197090366C>GCA344002044ASPMn.2946G>C
c.9659G>C (p.Trp3220Ser)
c.9881G>C (p.Trp3294Ser)
c.9635G>C (p.Trp3212Ser)
c.4904G>C (p.Trp1635Ser)
c.2654G>C (p.Trp885Ser)
c.3617G>C (p.Trp1206Ser)
1g.197090366C>TCA1308884ASPMn.2946G>A
c.9659G>A (p.Trp3220Ter)
c.9881G>A (p.Trp3294Ter)
c.9635G>A (p.Trp3212Ter)
c.4904G>A (p.Trp1635Ter)
c.2654G>A (p.Trp885Ter)
c.3617G>A (p.Trp1206Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090367A>CCA344002053ASPMn.2945T>G
c.9658T>G (p.Trp3220Gly)
c.9880T>G (p.Trp3294Gly)
c.9634T>G (p.Trp3212Gly)
c.4903T>G (p.Trp1635Gly)
c.2653T>G (p.Trp885Gly)
c.3616T>G (p.Trp1206Gly)
1g.197090367A>GCA344002048ASPMn.2945T>C
c.9658T>C (p.Trp3220Arg)
c.9880T>C (p.Trp3294Arg)
c.9634T>C (p.Trp3212Arg)
c.4903T>C (p.Trp1635Arg)
c.2653T>C (p.Trp885Arg)
c.3616T>C (p.Trp1206Arg)
1g.197090367A>TCA344002052ASPMn.2945T>A
c.9658T>A (p.Trp3220Arg)
c.9880T>A (p.Trp3294Arg)
c.9634T>A (p.Trp3212Arg)
c.4903T>A (p.Trp1635Arg)
c.2653T>A (p.Trp885Arg)
c.3616T>A (p.Trp1206Arg)
1g.197090368A=CA1217925335ASPMn.2944T=
c.9657T= (p.Ser3219=)
c.9879T= (p.Ser3293=)
c.9633T= (p.Ser3211=)
c.4902T= (p.Ser1634=)
c.2652T= (p.Ser884=)
c.3615T= (p.Ser1205=)
1g.197090368A>CCA1308885ASPMn.2944T>G
c.9657T>G (p.Ser3219=)
c.9879T>G (p.Ser3293=)
c.9633T>G (p.Ser3211=)
c.4902T>G (p.Ser1634=)
c.2652T>G (p.Ser884=)
c.3615T>G (p.Ser1205=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090368A>GCA422672362ASPMn.2944T>C
c.9657T>C (p.Ser3219=)
c.9879T>C (p.Ser3293=)
c.9633T>C (p.Ser3211=)
c.4902T>C (p.Ser1634=)
c.2652T>C (p.Ser884=)
c.3615T>C (p.Ser1205=)
1g.197090368A>TCA422672361ASPMn.2944T>A
c.9657T>A (p.Ser3219=)
c.9879T>A (p.Ser3293=)
c.9633T>A (p.Ser3211=)
c.4902T>A (p.Ser1634=)
c.2652T>A (p.Ser884=)
c.3615T>A (p.Ser1205=)
1g.197090369G>ACA344002056ASPMn.2943C>T
c.9656C>T (p.Ser3219Phe)
c.9878C>T (p.Ser3293Phe)
c.9632C>T (p.Ser3211Phe)
c.4901C>T (p.Ser1634Phe)
c.2651C>T (p.Ser884Phe)
c.3614C>T (p.Ser1205Phe)
1g.197090369G>CCA344002057ASPMn.2943C>G
c.9656C>G (p.Ser3219Cys)
c.9878C>G (p.Ser3293Cys)
c.9632C>G (p.Ser3211Cys)
c.4901C>G (p.Ser1634Cys)
c.2651C>G (p.Ser884Cys)
c.3614C>G (p.Ser1205Cys)
1g.197090369G>TCA344002060ASPMn.2943C>A
c.9656C>A (p.Ser3219Tyr)
c.9878C>A (p.Ser3293Tyr)
c.9632C>A (p.Ser3211Tyr)
c.4901C>A (p.Ser1634Tyr)
c.2651C>A (p.Ser884Tyr)
c.3614C>A (p.Ser1205Tyr)
1g.197090370A>CCA344002063ASPMn.2942T>G
c.9655T>G (p.Ser3219Ala)
c.9877T>G (p.Ser3293Ala)
c.9631T>G (p.Ser3211Ala)
c.4900T>G (p.Ser1634Ala)
c.2650T>G (p.Ser884Ala)
c.3613T>G (p.Ser1205Ala)
1g.197090370A>GCA344002066ASPMn.2942T>C
c.9655T>C (p.Ser3219Pro)
c.9877T>C (p.Ser3293Pro)
c.9631T>C (p.Ser3211Pro)
c.4900T>C (p.Ser1634Pro)
c.2650T>C (p.Ser884Pro)
c.3613T>C (p.Ser1205Pro)
1g.197090370A>TCA344002071ASPMn.2942T>A
c.9655T>A (p.Ser3219Thr)
c.9877T>A (p.Ser3293Thr)
c.9631T>A (p.Ser3211Thr)
c.4900T>A (p.Ser1634Thr)
c.2650T>A (p.Ser884Thr)
c.3613T>A (p.Ser1205Thr)
1g.197090371A>CCA344002074ASPMn.2941T>G
c.9654T>G (p.Tyr3218Ter)
c.9876T>G (p.Tyr3292Ter)
c.9630T>G (p.Tyr3210Ter)
c.4899T>G (p.Tyr1633Ter)
c.2649T>G (p.Tyr883Ter)
c.3612T>G (p.Tyr1204Ter)
1g.197090371A>GCA422672364ASPMn.2941T>C
c.9654T>C (p.Tyr3218=)
c.9876T>C (p.Tyr3292=)
c.9630T>C (p.Tyr3210=)
c.4899T>C (p.Tyr1633=)
c.2649T>C (p.Tyr883=)
c.3612T>C (p.Tyr1204=)
1g.197090371A>TCA344002076ASPMn.2941T>A
c.9654T>A (p.Tyr3218Ter)
c.9876T>A (p.Tyr3292Ter)
c.9630T>A (p.Tyr3210Ter)
c.4899T>A (p.Tyr1633Ter)
c.2649T>A (p.Tyr883Ter)
c.3612T>A (p.Tyr1204Ter)
1g.197090372T>ACA344002079ASPMn.2940A>T
c.9653A>T (p.Tyr3218Phe)
c.9875A>T (p.Tyr3292Phe)
c.9629A>T (p.Tyr3210Phe)
c.4898A>T (p.Tyr1633Phe)
c.2648A>T (p.Tyr883Phe)
c.3611A>T (p.Tyr1204Phe)
 dbSNP gnomAD v3 gnomAD v4
1g.197090372T>CCA344002082ASPMn.2940A>G
c.9653A>G (p.Tyr3218Cys)
c.9875A>G (p.Tyr3292Cys)
c.9629A>G (p.Tyr3210Cys)
c.4898A>G (p.Tyr1633Cys)
c.2648A>G (p.Tyr883Cys)
c.3611A>G (p.Tyr1204Cys)
1g.197090372T>GCA344002085ASPMn.2940A>C
c.9653A>C (p.Tyr3218Ser)
c.9875A>C (p.Tyr3292Ser)
c.9629A>C (p.Tyr3210Ser)
c.4898A>C (p.Tyr1633Ser)
c.2648A>C (p.Tyr883Ser)
c.3611A>C (p.Tyr1204Ser)
1g.197090372T=CA1217925337ASPMn.2940A=
c.9653A= (p.Tyr3218=)
c.9875A= (p.Tyr3292=)
c.9629A= (p.Tyr3210=)
c.4898A= (p.Tyr1633=)
c.2648A= (p.Tyr883=)
c.3611A= (p.Tyr1204=)
1g.197090373A=CA1148255483ASPMn.2939T=
c.9652T= (p.Tyr3218=)
c.9874T= (p.Tyr3292=)
c.9628T= (p.Tyr3210=)
c.4897T= (p.Tyr1633=)
c.2647T= (p.Tyr883=)
c.3610T= (p.Tyr1204=)
1g.197090373A>CCA344002092ASPMn.2939T>G
c.9652T>G (p.Tyr3218Asp)
c.9874T>G (p.Tyr3292Asp)
c.9628T>G (p.Tyr3210Asp)
c.4897T>G (p.Tyr1633Asp)
c.2647T>G (p.Tyr883Asp)
c.3610T>G (p.Tyr1204Asp)
1g.197090373A>GCA1308886ASPMn.2939T>C
c.9652T>C (p.Tyr3218His)
c.9874T>C (p.Tyr3292His)
c.9628T>C (p.Tyr3210His)
c.4897T>C (p.Tyr1633His)
c.2647T>C (p.Tyr883His)
c.3610T>C (p.Tyr1204His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090373A>TCA344002089ASPMn.2939T>A
c.9652T>A (p.Tyr3218Asn)
c.9874T>A (p.Tyr3292Asn)
c.9628T>A (p.Tyr3210Asn)
c.4897T>A (p.Tyr1633Asn)
c.2647T>A (p.Tyr883Asn)
c.3610T>A (p.Tyr1204Asn)
1g.197090373_197090374insTCTTCA2570154967ASPMn.2938_2939insAAGA
c.9651_9652insAAGA (p.Tyr3218LysfsTer9)
c.9873_9874insAAGA (p.Tyr3292LysfsTer9)
c.9627_9628insAAGA (p.Tyr3210LysfsTer9)
c.4896_4897insAAGA (p.Tyr1633LysfsTer9)
c.2646_2647insAAGA (p.Tyr883LysfsTer9)
c.3609_3610insAAGA (p.Tyr1204LysfsTer9)
1g.197090374G>ACA422672368ASPMn.2938C>T
c.9651C>T (p.Gly3217=)
c.9873C>T (p.Gly3291=)
c.9627C>T (p.Gly3209=)
c.4896C>T (p.Gly1632=)
c.2646C>T (p.Gly882=)
c.3609C>T (p.Gly1203=)
1g.197090374G>CCA422672367ASPMn.2938C>G
c.9651C>G (p.Gly3217=)
c.9873C>G (p.Gly3291=)
c.9627C>G (p.Gly3209=)
c.4896C>G (p.Gly1632=)
c.2646C>G (p.Gly882=)
c.3609C>G (p.Gly1203=)
1g.197090374G=CA1217925338ASPMn.2938C=
c.9651C= (p.Gly3217=)
c.9873C= (p.Gly3291=)
c.9627C= (p.Gly3209=)
c.4896C= (p.Gly1632=)
c.2646C= (p.Gly882=)
c.3609C= (p.Gly1203=)
1g.197090374G>TCA422672366ASPMn.2938C>A
c.9651C>A (p.Gly3217=)
c.9873C>A (p.Gly3291=)
c.9627C>A (p.Gly3209=)
c.4896C>A (p.Gly1632=)
c.2646C>A (p.Gly882=)
c.3609C>A (p.Gly1203=)
 dbSNP gnomAD v2 gnomAD v4
1g.197090374_197090375insTACACTACA2536796341ASPMn.2937_2938insTAGTGTA
c.9650_9651insTAGTGTA (p.Tyr3218SerfsTer10)
c.9872_9873insTAGTGTA (p.Tyr3292SerfsTer10)
c.9626_9627insTAGTGTA (p.Tyr3210SerfsTer10)
c.4895_4896insTAGTGTA (p.Tyr1633SerfsTer10)
c.2645_2646insTAGTGTA (p.Tyr883SerfsTer10)
c.3608_3609insTAGTGTA (p.Tyr1204SerfsTer10)
1g.197090375C>ACA344002095ASPMn.2937G>T
c.9650G>T (p.Gly3217Val)
c.9872G>T (p.Gly3291Val)
c.9626G>T (p.Gly3209Val)
c.4895G>T (p.Gly1632Val)
c.2645G>T (p.Gly882Val)
c.3608G>T (p.Gly1203Val)
1g.197090375C=CA1217925340ASPMn.2937G=
c.9650G= (p.Gly3217=)
c.9872G= (p.Gly3291=)
c.9626G= (p.Gly3209=)
c.4895G= (p.Gly1632=)
c.2645G= (p.Gly882=)
c.3608G= (p.Gly1203=)
1g.197090375C>GCA344002098ASPMn.2937G>C
c.9650G>C (p.Gly3217Ala)
c.9872G>C (p.Gly3291Ala)
c.9626G>C (p.Gly3209Ala)
c.4895G>C (p.Gly1632Ala)
c.2645G>C (p.Gly882Ala)
c.3608G>C (p.Gly1203Ala)
1g.197090375C>TCA344002097ASPMn.2937G>A
c.9650G>A (p.Gly3217Asp)
c.9872G>A (p.Gly3291Asp)
c.9626G>A (p.Gly3209Asp)
c.4895G>A (p.Gly1632Asp)
c.2645G>A (p.Gly882Asp)
c.3608G>A (p.Gly1203Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197090376C>ACA344002101ASPMn.2936G>T
c.9649G>T (p.Gly3217Cys)
c.9871G>T (p.Gly3291Cys)
c.9625G>T (p.Gly3209Cys)
c.4894G>T (p.Gly1632Cys)
c.2644G>T (p.Gly882Cys)
c.3607G>T (p.Gly1203Cys)
1g.197090376C>GCA344002104ASPMn.2936G>C
c.9649G>C (p.Gly3217Arg)
c.9871G>C (p.Gly3291Arg)
c.9625G>C (p.Gly3209Arg)
c.4894G>C (p.Gly1632Arg)
c.2644G>C (p.Gly882Arg)
c.3607G>C (p.Gly1203Arg)
1g.197090376C>TCA344002103ASPMn.2936G>A
c.9649G>A (p.Gly3217Ser)
c.9871G>A (p.Gly3291Ser)
c.9625G>A (p.Gly3209Ser)
c.4894G>A (p.Gly1632Ser)
c.2644G>A (p.Gly882Ser)
c.3607G>A (p.Gly1203Ser)
1g.197090377T>ACA344002105ASPMn.2935A>T
c.9648A>T (p.Arg3216Ser)
c.9870A>T (p.Arg3290Ser)
c.9624A>T (p.Arg3208Ser)
c.4893A>T (p.Arg1631Ser)
c.2643A>T (p.Arg881Ser)
c.3606A>T (p.Arg1202Ser)
1g.197090377T>CCA422672371ASPMn.2935A>G
c.9648A>G (p.Arg3216=)
c.9870A>G (p.Arg3290=)
c.9624A>G (p.Arg3208=)
c.4893A>G (p.Arg1631=)
c.2643A>G (p.Arg881=)
c.3606A>G (p.Arg1202=)
 gnomAD v4
1g.197090377T>GCA344002106ASPMn.2935A>C
c.9648A>C (p.Arg3216Ser)
c.9870A>C (p.Arg3290Ser)
c.9624A>C (p.Arg3208Ser)
c.4893A>C (p.Arg1631Ser)
c.2643A>C (p.Arg881Ser)
c.3606A>C (p.Arg1202Ser)
1g.197090377_197090378insAAACA2519024568ASPMn.2934_2935insTTT
c.9647_9648insTTT (p.Arg3216delinsSerLeu)
c.9869_9870insTTT (p.Arg3290delinsSerLeu)
c.9623_9624insTTT (p.Arg3208delinsSerLeu)
c.4892_4893insTTT (p.Arg1631delinsSerLeu)
c.2642_2643insTTT (p.Arg881delinsSerLeu)
c.3605_3606insTTT (p.Arg1202delinsSerLeu)
1g.197090378C>ACA344002108ASPMn.2934G>T
c.9647G>T (p.Arg3216Ile)
c.9869G>T (p.Arg3290Ile)
c.9623G>T (p.Arg3208Ile)
c.4892G>T (p.Arg1631Ile)
c.2642G>T (p.Arg881Ile)
c.3605G>T (p.Arg1202Ile)
 dbSNP
1g.197090378C=CA1144133353ASPMn.2934G=
c.9647G= (p.Arg3216=)
c.9869G= (p.Arg3290=)
c.9623G= (p.Arg3208=)
c.4892G= (p.Arg1631=)
c.2642G= (p.Arg881=)
c.3605G= (p.Arg1202=)
1g.197090378C>GCA344002110ASPMn.2934G>C
c.9647G>C (p.Arg3216Thr)
c.9869G>C (p.Arg3290Thr)
c.9623G>C (p.Arg3208Thr)
c.4892G>C (p.Arg1631Thr)
c.2642G>C (p.Arg881Thr)
c.3605G>C (p.Arg1202Thr)
1g.197090378C>TCA1308887ASPMn.2934G>A
c.9647G>A (p.Arg3216Lys)
c.9869G>A (p.Arg3290Lys)
c.9623G>A (p.Arg3208Lys)
c.4892G>A (p.Arg1631Lys)
c.2642G>A (p.Arg881Lys)
c.3605G>A (p.Arg1202Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090379T>ACA344002112ASPMn.2933A>T
c.9646A>T (p.Arg3216Ter)
c.9868A>T (p.Arg3290Ter)
c.9622A>T (p.Arg3208Ter)
c.4891A>T (p.Arg1631Ter)
c.2641A>T (p.Arg881Ter)
c.3604A>T (p.Arg1202Ter)
1g.197090379T>CCA344002113ASPMn.2933A>G
c.9646A>G (p.Arg3216Gly)
c.9868A>G (p.Arg3290Gly)
c.9622A>G (p.Arg3208Gly)
c.4891A>G (p.Arg1631Gly)
c.2641A>G (p.Arg881Gly)
c.3604A>G (p.Arg1202Gly)
 ClinVar dbSNP gnomAD v4
1g.197090379T>GCA422672372ASPMn.2933A>C
c.9646A>C (p.Arg3216=)
c.9868A>C (p.Arg3290=)
c.9622A>C (p.Arg3208=)
c.4891A>C (p.Arg1631=)
c.2641A>C (p.Arg881=)
c.3604A>C (p.Arg1202=)
1g.197090379T=CA1217925343ASPMn.2933A=
c.9646A= (p.Arg3216=)
c.9868A= (p.Arg3290=)
c.9622A= (p.Arg3208=)
c.4891A= (p.Arg1631=)
c.2641A= (p.Arg881=)
c.3604A= (p.Arg1202=)
1g.197090380C>ACA344002114ASPMn.2932G>T
c.9645G>T (p.Trp3215Cys)
c.9867G>T (p.Trp3289Cys)
c.9621G>T (p.Trp3207Cys)
c.4890G>T (p.Trp1630Cys)
c.2640G>T (p.Trp880Cys)
c.3603G>T (p.Trp1201Cys)
 gnomAD v4
1g.197090380C=CA1217925345ASPMn.2932G=
c.9645G= (p.Trp3215=)
c.9867G= (p.Trp3289=)
c.9621G= (p.Trp3207=)
c.4890G= (p.Trp1630=)
c.2640G= (p.Trp880=)
c.3603G= (p.Trp1201=)
1g.197090380C>GCA344002115ASPMn.2932G>C
c.9645G>C (p.Trp3215Cys)
c.9867G>C (p.Trp3289Cys)
c.9621G>C (p.Trp3207Cys)
c.4890G>C (p.Trp1630Cys)
c.2640G>C (p.Trp880Cys)
c.3603G>C (p.Trp1201Cys)
 gnomAD v4
1g.197090380C>TCA344002118ASPMn.2932G>A
c.9645G>A (p.Trp3215Ter)
c.9867G>A (p.Trp3289Ter)
c.9621G>A (p.Trp3207Ter)
c.4890G>A (p.Trp1630Ter)
c.2640G>A (p.Trp880Ter)
c.3603G>A (p.Trp1201Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.197090381C>ACA344002122ASPMn.2931G>T
c.9644G>T (p.Trp3215Leu)
c.9866G>T (p.Trp3289Leu)
c.9620G>T (p.Trp3207Leu)
c.4889G>T (p.Trp1630Leu)
c.2639G>T (p.Trp880Leu)
c.3602G>T (p.Trp1201Leu)
1g.197090381C>GCA344002121ASPMn.2931G>C
c.9644G>C (p.Trp3215Ser)
c.9866G>C (p.Trp3289Ser)
c.9620G>C (p.Trp3207Ser)
c.4889G>C (p.Trp1630Ser)
c.2639G>C (p.Trp880Ser)
c.3602G>C (p.Trp1201Ser)
1g.197090381C>TCA344002120ASPMn.2931G>A
c.9644G>A (p.Trp3215Ter)
c.9866G>A (p.Trp3289Ter)
c.9620G>A (p.Trp3207Ter)
c.4889G>A (p.Trp1630Ter)
c.2639G>A (p.Trp880Ter)
c.3602G>A (p.Trp1201Ter)
1g.197090382A>CCA344002125ASPMn.2930T>G
c.9643T>G (p.Trp3215Gly)
c.9865T>G (p.Trp3289Gly)
c.9619T>G (p.Trp3207Gly)
c.4888T>G (p.Trp1630Gly)
c.2638T>G (p.Trp880Gly)
c.3601T>G (p.Trp1201Gly)
 gnomAD v4
1g.197090382A>GCA344002127ASPMn.2930T>C
c.9643T>C (p.Trp3215Arg)
c.9865T>C (p.Trp3289Arg)
c.9619T>C (p.Trp3207Arg)
c.4888T>C (p.Trp1630Arg)
c.2638T>C (p.Trp880Arg)
c.3601T>C (p.Trp1201Arg)
 gnomAD v4
1g.197090382A>TCA344002130ASPMn.2930T>A
c.9643T>A (p.Trp3215Arg)
c.9865T>A (p.Trp3289Arg)
c.9619T>A (p.Trp3207Arg)
c.4888T>A (p.Trp1630Arg)
c.2638T>A (p.Trp880Arg)
c.3601T>A (p.Trp1201Arg)
1g.197090384_197090386delCA2573973469ASPMn.2928_2930del
c.9641_9643del (p.Leu3214del)
c.9863_9865del (p.Leu3288del)
c.9617_9619del (p.Leu3206del)
c.4886_4888del (p.Leu1629del)
c.2636_2638del (p.Leu879del)
c.3599_3601del (p.Leu1200del)
1g.197090382_197090383insATCTCTTCCA2531232883ASPMn.2929_2930insGAAGAGAT
c.9642_9643insGAAGAGAT (p.Trp3215GlufsTer23)
c.9864_9865insGAAGAGAT (p.Trp3289GlufsTer23)
c.9618_9619insGAAGAGAT (p.Trp3207GlufsTer23)
c.4887_4888insGAAGAGAT (p.Trp1630GlufsTer23)
c.2637_2638insGAAGAGAT (p.Trp880GlufsTer23)
c.3600_3601insGAAGAGAT (p.Trp1201GlufsTer23)
1g.197090383T>ACA344002133ASPMn.2929A>T
c.9642A>T (p.Leu3214Phe)
c.9864A>T (p.Leu3288Phe)
c.9618A>T (p.Leu3206Phe)
c.4887A>T (p.Leu1629Phe)
c.2637A>T (p.Leu879Phe)
c.3600A>T (p.Leu1200Phe)
1g.197090383T>CCA1308888ASPMn.2929A>G
c.9642A>G (p.Leu3214=)
c.9864A>G (p.Leu3288=)
c.9618A>G (p.Leu3206=)
c.4887A>G (p.Leu1629=)
c.2637A>G (p.Leu879=)
c.3600A>G (p.Leu1200=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090383T>GCA344002134ASPMn.2929A>C
c.9642A>C (p.Leu3214Phe)
c.9864A>C (p.Leu3288Phe)
c.9618A>C (p.Leu3206Phe)
c.4887A>C (p.Leu1629Phe)
c.2637A>C (p.Leu879Phe)
c.3600A>C (p.Leu1200Phe)
1g.197090383T=CA1217925347ASPMn.2929A=
c.9642A= (p.Leu3214=)
c.9864A= (p.Leu3288=)
c.9618A= (p.Leu3206=)
c.4887A= (p.Leu1629=)
c.2637A= (p.Leu879=)
c.3600A= (p.Leu1200=)
1g.197090384A=CA1143613707ASPMn.2928T=
c.9641T= (p.Leu3214=)
c.9863T= (p.Leu3288=)
c.9617T= (p.Leu3206=)
c.4886T= (p.Leu1629=)
c.2636T= (p.Leu879=)
c.3599T= (p.Leu1200=)
1g.197090384A>CCA344002136ASPMn.2928T>G
c.9641T>G (p.Leu3214Ter)
c.9863T>G (p.Leu3288Ter)
c.9617T>G (p.Leu3206Ter)
c.4886T>G (p.Leu1629Ter)
c.2636T>G (p.Leu879Ter)
c.3599T>G (p.Leu1200Ter)
1g.197090384A>GCA1308889ASPMn.2928T>C
c.9641T>C (p.Leu3214Ser)
c.9863T>C (p.Leu3288Ser)
c.9617T>C (p.Leu3206Ser)
c.4886T>C (p.Leu1629Ser)
c.2636T>C (p.Leu879Ser)
c.3599T>C (p.Leu1200Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090384A>TCA344002139ASPMn.2928T>A
c.9641T>A (p.Leu3214Ter)
c.9863T>A (p.Leu3288Ter)
c.9617T>A (p.Leu3206Ter)
c.4886T>A (p.Leu1629Ter)
c.2636T>A (p.Leu879Ter)
c.3599T>A (p.Leu1200Ter)
 ClinVar dbSNP
1g.197090385A>CCA344002141ASPMn.2927T>G
c.9640T>G (p.Leu3214Val)
c.9862T>G (p.Leu3288Val)
c.9616T>G (p.Leu3206Val)
c.4885T>G (p.Leu1629Val)
c.2635T>G (p.Leu879Val)
c.3598T>G (p.Leu1200Val)
1g.197090385A>GCA422672378ASPMn.2927T>C
c.9640T>C (p.Leu3214=)
c.9862T>C (p.Leu3288=)
c.9616T>C (p.Leu3206=)
c.4885T>C (p.Leu1629=)
c.2635T>C (p.Leu879=)
c.3598T>C (p.Leu1200=)
 gnomAD v4
1g.197090385A>TCA344002153ASPMn.2927T>A
c.9640T>A (p.Leu3214Ile)
c.9862T>A (p.Leu3288Ile)
c.9616T>A (p.Leu3206Ile)
c.4885T>A (p.Leu1629Ile)
c.2635T>A (p.Leu879Ile)
c.3598T>A (p.Leu1200Ile)
1g.197090386T>ACA422672379ASPMn.2926A>T
c.9639A>T (p.Ala3213=)
c.9861A>T (p.Ala3287=)
c.9615A>T (p.Ala3205=)
c.4884A>T (p.Ala1628=)
c.2634A>T (p.Ala878=)
c.3597A>T (p.Ala1199=)
1g.197090386T>CCA422672380ASPMn.2926A>G
c.9639A>G (p.Ala3213=)
c.9861A>G (p.Ala3287=)
c.9615A>G (p.Ala3205=)
c.4884A>G (p.Ala1628=)
c.2634A>G (p.Ala878=)
c.3597A>G (p.Ala1199=)
 gnomAD v4
1g.197090386T>GCA422672381ASPMn.2926A>C
c.9639A>C (p.Ala3213=)
c.9861A>C (p.Ala3287=)
c.9615A>C (p.Ala3205=)
c.4884A>C (p.Ala1628=)
c.2634A>C (p.Ala878=)
c.3597A>C (p.Ala1199=)
1g.197090387G>ACA344002158ASPMn.2925C>T
c.9638C>T (p.Ala3213Val)
c.9860C>T (p.Ala3287Val)
c.9614C>T (p.Ala3205Val)
c.4883C>T (p.Ala1628Val)
c.2633C>T (p.Ala878Val)
c.3596C>T (p.Ala1199Val)
 gnomAD v4 COSMIC
1g.197090387G>CCA344002159ASPMn.2925C>G
c.9638C>G (p.Ala3213Gly)
c.9860C>G (p.Ala3287Gly)
c.9614C>G (p.Ala3205Gly)
c.4883C>G (p.Ala1628Gly)
c.2633C>G (p.Ala878Gly)
c.3596C>G (p.Ala1199Gly)
1g.197090387G>TCA344002157ASPMn.2925C>A
c.9638C>A (p.Ala3213Glu)
c.9860C>A (p.Ala3287Glu)
c.9614C>A (p.Ala3205Glu)
c.4883C>A (p.Ala1628Glu)
c.2633C>A (p.Ala878Glu)
c.3596C>A (p.Ala1199Glu)
 gnomAD v4
1g.197090387_197090388delinsGCCA1217925350ASPMn.2924_2925delinsGC
c.9637_9638delinsGC (p.Ala3213=)
c.9859_9860delinsGC (p.Ala3287=)
c.9613_9614delinsGC (p.Ala3205=)
c.4882_4883delinsGC (p.Ala1628=)
c.2632_2633delinsGC (p.Ala878=)
c.3595_3596delinsGC (p.Ala1199=)
1g.197090388C>ACA344002160ASPMn.2924G>T
c.9637G>T (p.Ala3213Ser)
c.9859G>T (p.Ala3287Ser)
c.9613G>T (p.Ala3205Ser)
c.4882G>T (p.Ala1628Ser)
c.2632G>T (p.Ala878Ser)
c.3595G>T (p.Ala1199Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.197090388C=CA1217925352ASPMn.2924G=
c.9637G= (p.Ala3213=)
c.9859G= (p.Ala3287=)
c.9613G= (p.Ala3205=)
c.4882G= (p.Ala1628=)
c.2632G= (p.Ala878=)
c.3595G= (p.Ala1199=)
1g.197090388C>GCA1308890ASPMn.2924G>C
c.9637G>C (p.Ala3213Pro)
c.9859G>C (p.Ala3287Pro)
c.9613G>C (p.Ala3205Pro)
c.4882G>C (p.Ala1628Pro)
c.2632G>C (p.Ala878Pro)
c.3595G>C (p.Ala1199Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090388C>TCA344002163ASPMn.2924G>A
c.9637G>A (p.Ala3213Thr)
c.9859G>A (p.Ala3287Thr)
c.9613G>A (p.Ala3205Thr)
c.4882G>A (p.Ala1628Thr)
c.2632G>A (p.Ala878Thr)
c.3595G>A (p.Ala1199Thr)
1g.197090389delCA1010898341ASPMn.2924del
c.9637del
c.9859del
c.9613del
c.4882del
c.2632del
c.3595del
 dbSNP gnomAD v3 gnomAD v4
1g.197090389C>ACA344002165ASPMn.2924-1G>T
c.9637-1G>T (n.9637-1G>T)
c.9859-1G>T (n.9859-1G>T)
c.9613-1G>T (n.9613-1G>T)
c.4882-1G>T (n.4882-1G>T)
c.2632-1G>T (n.2632-1G>T)
c.3595-1G>T (n.3595-1G>T)
 dbSNP gnomAD v3 gnomAD v4
1g.197090389C=CA1217925354ASPMn.2924-1G=
c.9637-1G= (n.9637-1G=)
c.9859-1G= (n.9859-1G=)
c.9613-1G= (n.9613-1G=)
c.4882-1G= (n.4882-1G=)
c.2632-1G= (n.2632-1G=)
c.3595-1G= (n.3595-1G=)
1g.197090389C>GCA344002167ASPMn.2924-1G>C
c.9637-1G>C (n.9637-1G>C)
c.9859-1G>C (n.9859-1G>C)
c.9613-1G>C (n.9613-1G>C)
c.4882-1G>C (n.4882-1G>C)
c.2632-1G>C (n.2632-1G>C)
c.3595-1G>C (n.3595-1G>C)
1g.197090389C>TCA344002169ASPMn.2924-1G>A
c.9637-1G>A (n.9637-1G>A)
c.9859-1G>A (n.9859-1G>A)
c.9613-1G>A (n.9613-1G>A)
c.4882-1G>A (n.4882-1G>A)
c.2632-1G>A (n.2632-1G>A)
c.3595-1G>A (n.3595-1G>A)
 gnomAD v4
1g.197090390T>ACA344002171ASPMn.2924-2A>T
c.9637-2A>T (n.9637-2A>T)
c.9859-2A>T (n.9859-2A>T)
c.9613-2A>T (n.9613-2A>T)
c.4882-2A>T (n.4882-2A>T)
c.2632-2A>T (n.2632-2A>T)
c.3595-2A>T (n.3595-2A>T)
1g.197090390T>CCA344002174ASPMn.2924-2A>G
c.9637-2A>G (n.9637-2A>G)
c.9859-2A>G (n.9859-2A>G)
c.9613-2A>G (n.9613-2A>G)
c.4882-2A>G (n.4882-2A>G)
c.2632-2A>G (n.2632-2A>G)
c.3595-2A>G (n.3595-2A>G)
 gnomAD v4
1g.197090390T>GCA344002176ASPMn.2924-2A>C
c.9637-2A>C (n.9637-2A>C)
c.9859-2A>C (n.9859-2A>C)
c.9613-2A>C (n.9613-2A>C)
c.4882-2A>C (n.4882-2A>C)
c.2632-2A>C (n.2632-2A>C)
c.3595-2A>C (n.3595-2A>C)
1g.197090390_197090391insGAATTTCA2747239573ASPMn.2924-2_2924-1insAATTCA
c.9637-2_9637-1insAATTCA (n.9637-2_9637-1insAATTCA)
c.9859-2_9859-1insAATTCA (n.9859-2_9859-1insAATTCA)
c.9613-2_9613-1insAATTCA (n.9613-2_9613-1insAATTCA)
c.4882-2_4882-1insAATTCA (n.4882-2_4882-1insAATTCA)
c.2632-2_2632-1insAATTCA (n.2632-2_2632-1insAATTCA)
c.3595-2_3595-1insAATTCA (n.3595-2_3595-1insAATTCA)
1g.197090390_197090391insGAACA2747239574ASPMn.2924-3_2924-2insTTC
c.9637-3_9637-2insTTC (n.9637-3_9637-2insTTC)
c.9859-3_9859-2insTTC (n.9859-3_9859-2insTTC)
c.9613-3_9613-2insTTC (n.9613-3_9613-2insTTC)
c.4882-3_4882-2insTTC (n.4882-3_4882-2insTTC)
c.2632-3_2632-2insTTC (n.2632-3_2632-2insTTC)
c.3595-3_3595-2insTTC (n.3595-3_3595-2insTTC)
1g.197090391_197090393delinsTAACA1217925355ASPMn.2924-5_2924-3delinsTTA
c.9637-5_9637-3delinsTTA (n.9637-5_9637-3delinsTTA)
c.9859-5_9859-3delinsTTA (n.9859-5_9859-3delinsTTA)
c.9613-5_9613-3delinsTTA (n.9613-5_9613-3delinsTTA)
c.4882-5_4882-3delinsTTA (n.4882-5_4882-3delinsTTA)
c.2632-5_2632-3delinsTTA (n.2632-5_2632-3delinsTTA)
c.3595-5_3595-3delinsTTA (n.3595-5_3595-3delinsTTA)
1g.197090391_197090407delCA2536797537ASPMn.2924-19_2924-3del
c.9637-19_9637-3del (n.9637-19_9637-3del)
c.9859-19_9859-3del (n.9859-19_9859-3del)
c.9613-19_9613-3del (n.9613-19_9613-3del)
c.4882-19_4882-3del (n.4882-19_4882-3del)
c.2632-19_2632-3del (n.2632-19_2632-3del)
c.3595-19_3595-3del (n.3595-19_3595-3del)
1g.197090391_197090392insTCTAGTGGCGCAGCTAGTGATCTTTTCCTGTCTTCTGCAGAGGAGCA2747239575ASPMn.2924-4_2924-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA
c.9637-4_9637-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA (n.9637-4_9637-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA)
c.9859-4_9859-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA (n.9859-4_9859-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA)
c.9613-4_9613-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA (n.9613-4_9613-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA)
c.4882-4_4882-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA (n.4882-4_4882-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA)
c.2632-4_2632-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA (n.2632-4_2632-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA)
c.3595-4_3595-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA (n.3595-4_3595-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA)
1g.197090393_197090394delCA35862048ASPMn.2924-5_2924-4del
c.9637-5_9637-4del (n.9637-5_9637-4del)
c.9859-5_9859-4del (n.9859-5_9859-4del)
c.9613-5_9613-4del (n.9613-5_9613-4del)
c.4882-5_4882-4del (n.4882-5_4882-4del)
c.2632-5_2632-4del (n.2632-5_2632-4del)
c.3595-5_3595-4del (n.3595-5_3595-4del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197090393_197090394insTGATTCCACTAGTGAATTTTTCCTGCTTTTTACGGCA2747239576ASPMn.2924-6_2924-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA
c.9637-6_9637-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA (n.9637-6_9637-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA)
c.9859-6_9859-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA (n.9859-6_9859-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA)
c.9613-6_9613-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA (n.9613-6_9613-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA)
c.4882-6_4882-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA (n.4882-6_4882-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA)
c.2632-6_2632-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA (n.2632-6_2632-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA)
c.3595-6_3595-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA (n.3595-6_3595-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA)
1g.197090394A=CA1217925357ASPMn.2924-6T=
c.9637-6T= (n.9637-6T=)
c.9859-6T= (n.9859-6T=)
c.9613-6T= (n.9613-6T=)
c.4882-6T= (n.4882-6T=)
c.2632-6T= (n.2632-6T=)
c.3595-6T= (n.3595-6T=)
1g.197090394A>GCA528279137ASPMn.2924-6T>C
c.9637-6T>C (n.9637-6T>C)
c.9859-6T>C (n.9859-6T>C)
c.9613-6T>C (n.9613-6T>C)
c.4882-6T>C (n.4882-6T>C)
c.2632-6T>C (n.2632-6T>C)
c.3595-6T>C (n.3595-6T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197090395G>ACA528279138ASPMn.2924-7C>T
c.9637-7C>T (n.9637-7C>T)
c.9859-7C>T (n.9859-7C>T)
c.9613-7C>T (n.9613-7C>T)
c.4882-7C>T (n.4882-7C>T)
c.2632-7C>T (n.2632-7C>T)
c.3595-7C>T (n.3595-7C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.197090395G=CA1217925359ASPMn.2924-7C=
c.9637-7C= (n.9637-7C=)
c.9859-7C= (n.9859-7C=)
c.9613-7C= (n.9613-7C=)
c.4882-7C= (n.4882-7C=)
c.2632-7C= (n.2632-7C=)
c.3595-7C= (n.3595-7C=)
1g.197090396A>TCA2740211892ASPMn.2924-8T>A
c.9637-8T>A (n.9637-8T>A)
c.9859-8T>A (n.9859-8T>A)
c.9613-8T>A (n.9613-8T>A)
c.4882-8T>A (n.4882-8T>A)
c.2632-8T>A (n.2632-8T>A)
c.3595-8T>A (n.3595-8T>A)
1g.197090397G>ACA1010898351ASPMn.2924-9C>T
c.9637-9C>T (n.9637-9C>T)
c.9859-9C>T (n.9859-9C>T)
c.9613-9C>T (n.9613-9C>T)
c.4882-9C>T (n.4882-9C>T)
c.2632-9C>T (n.2632-9C>T)
c.3595-9C>T (n.3595-9C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.197090397G=CA1217925360ASPMn.2924-9C=
c.9637-9C= (n.9637-9C=)
c.9859-9C= (n.9859-9C=)
c.9613-9C= (n.9613-9C=)
c.4882-9C= (n.4882-9C=)
c.2632-9C= (n.2632-9C=)
c.3595-9C= (n.3595-9C=)
1g.197090398A=CA1217925362ASPMn.2924-10T=
c.9637-10T= (n.9637-10T=)
c.9859-10T= (n.9859-10T=)
c.9613-10T= (n.9613-10T=)
c.4882-10T= (n.4882-10T=)
c.2632-10T= (n.2632-10T=)
c.3595-10T= (n.3595-10T=)
1g.197090398A>TCA891843239ASPMn.2924-10T>A
c.9637-10T>A (n.9637-10T>A)
c.9859-10T>A (n.9859-10T>A)
c.9613-10T>A (n.9613-10T>A)
c.4882-10T>A (n.4882-10T>A)
c.2632-10T>A (n.2632-10T>A)
c.3595-10T>A (n.3595-10T>A)
 ClinVar dbSNP
1g.197090399T>CCA1217925365ASPMn.2924-11A>G
c.9637-11A>G (n.9637-11A>G)
c.9859-11A>G (n.9859-11A>G)
c.9613-11A>G (n.9613-11A>G)
c.4882-11A>G (n.4882-11A>G)
c.2632-11A>G (n.2632-11A>G)
c.3595-11A>G (n.3595-11A>G)
 dbSNP gnomAD v4
1g.197090399T=CA1217925364ASPMn.2924-11A=
c.9637-11A= (n.9637-11A=)
c.9859-11A= (n.9859-11A=)
c.9613-11A= (n.9613-11A=)
c.4882-11A= (n.4882-11A=)
c.2632-11A= (n.2632-11A=)
c.3595-11A= (n.3595-11A=)
1g.197090400A=CA1217925366ASPMn.2924-12T=
c.9637-12T= (n.9637-12T=)
c.9859-12T= (n.9859-12T=)
c.9613-12T= (n.9613-12T=)
c.4882-12T= (n.4882-12T=)
c.2632-12T= (n.2632-12T=)
c.3595-12T= (n.3595-12T=)
1g.197090400A>GCA1308891ASPMn.2924-12T>C
c.9637-12T>C (n.9637-12T>C)
c.9859-12T>C (n.9859-12T>C)
c.9613-12T>C (n.9613-12T>C)
c.4882-12T>C (n.4882-12T>C)
c.2632-12T>C (n.2632-12T>C)
c.3595-12T>C (n.3595-12T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090400_197090403delCA2573973538ASPMn.2924-15_2924-12del
c.9637-15_9637-12del (n.9637-15_9637-12del)
c.9859-15_9859-12del (n.9859-15_9859-12del)
c.9613-15_9613-12del (n.9613-15_9613-12del)
c.4882-15_4882-12del (n.4882-15_4882-12del)
c.2632-15_2632-12del (n.2632-15_2632-12del)
c.3595-15_3595-12del (n.3595-15_3595-12del)
1g.197090401_197090405delCA2649660644ASPMn.2924-16_2924-12del
c.9637-16_9637-12del (n.9637-16_9637-12del)
c.9859-16_9859-12del (n.9859-16_9859-12del)
c.9613-16_9613-12del (n.9613-16_9613-12del)
c.4882-16_4882-12del (n.4882-16_4882-12del)
c.2632-16_2632-12del (n.2632-16_2632-12del)
c.3595-16_3595-12del (n.3595-16_3595-12del)
 gnomAD v4
1g.197090403A=CA1217925367ASPMn.2924-15T=
c.9637-15T= (n.9637-15T=)
c.9859-15T= (n.9859-15T=)
c.9613-15T= (n.9613-15T=)
c.4882-15T= (n.4882-15T=)
c.2632-15T= (n.2632-15T=)
c.3595-15T= (n.3595-15T=)
1g.197090403A>GCA528279139ASPMn.2924-15T>C
c.9637-15T>C (n.9637-15T>C)
c.9859-15T>C (n.9859-15T>C)
c.9613-15T>C (n.9613-15T>C)
c.4882-15T>C (n.4882-15T>C)
c.2632-15T>C (n.2632-15T>C)
c.3595-15T>C (n.3595-15T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197090404_197090405delCA2649660646ASPMn.2924-16_2924-15del
c.9637-16_9637-15del (n.9637-16_9637-15del)
c.9859-16_9859-15del (n.9859-16_9859-15del)
c.9613-16_9613-15del (n.9613-16_9613-15del)
c.4882-16_4882-15del (n.4882-16_4882-15del)
c.2632-16_2632-15del (n.2632-16_2632-15del)
c.3595-16_3595-15del (n.3595-16_3595-15del)
 gnomAD v4
1g.197090403_197090439dupCA2649660645ASPMn.2924-51_2924-15dup
c.9637-51_9637-15dup (n.9637-51_9637-15dup)
c.9859-51_9859-15dup (n.9859-51_9859-15dup)
c.9613-51_9613-15dup (n.9613-51_9613-15dup)
c.4882-51_4882-15dup (n.4882-51_4882-15dup)
c.2632-51_2632-15dup (n.2632-51_2632-15dup)
c.3595-51_3595-15dup (n.3595-51_3595-15dup)
 gnomAD v4
1g.197090404C=CA1217925370ASPMn.2924-16G=
c.9637-16G= (n.9637-16G=)
c.9859-16G= (n.9859-16G=)
c.9613-16G= (n.9613-16G=)
c.4882-16G= (n.4882-16G=)
c.2632-16G= (n.2632-16G=)
c.3595-16G= (n.3595-16G=)
1g.197090404C>GCA1308893ASPMn.2924-16G>C
c.9637-16G>C (n.9637-16G>C)
c.9859-16G>C (n.9859-16G>C)
c.9613-16G>C (n.9613-16G>C)
c.4882-16G>C (n.4882-16G>C)
c.2632-16G>C (n.2632-16G>C)
c.3595-16G>C (n.3595-16G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090404C>TCA1010898355ASPMn.2924-16G>A
c.9637-16G>A (n.9637-16G>A)
c.9859-16G>A (n.9859-16G>A)
c.9613-16G>A (n.9613-16G>A)
c.4882-16G>A (n.4882-16G>A)
c.2632-16G>A (n.2632-16G>A)
c.3595-16G>A (n.3595-16G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.197090404_197090406delinsCAGCA1217925369ASPMn.2924-18_2924-16delinsCTG
c.9637-18_9637-16delinsCTG (n.9637-18_9637-16delinsCTG)
c.9859-18_9859-16delinsCTG (n.9859-18_9859-16delinsCTG)
c.9613-18_9613-16delinsCTG (n.9613-18_9613-16delinsCTG)
c.4882-18_4882-16delinsCTG (n.4882-18_4882-16delinsCTG)
c.2632-18_2632-16delinsCTG (n.2632-18_2632-16delinsCTG)
c.3595-18_3595-16delinsCTG (n.3595-18_3595-16delinsCTG)
1g.197090405delCA2649660648ASPMn.2924-17del
c.9637-17del (n.9637-17del)
c.9859-17del (n.9859-17del)
c.9613-17del (n.9613-17del)
c.4882-17del (n.4882-17del)
c.2632-17del (n.2632-17del)
c.3595-17del (n.3595-17del)
 gnomAD v4
1g.197090405dupCA2649660647ASPMn.2924-17dup
c.9637-17dup (n.9637-17dup)
c.9859-17dup (n.9859-17dup)
c.9613-17dup (n.9613-17dup)
c.4882-17dup (n.4882-17dup)
c.2632-17dup (n.2632-17dup)
c.3595-17dup (n.3595-17dup)
 gnomAD v4
1g.197090405_197090407delCA2649660649ASPMn.2924-19_2924-17del
c.9637-19_9637-17del (n.9637-19_9637-17del)
c.9859-19_9859-17del (n.9859-19_9859-17del)
c.9613-19_9613-17del (n.9613-19_9613-17del)
c.4882-19_4882-17del (n.4882-19_4882-17del)
c.2632-19_2632-17del (n.2632-19_2632-17del)
c.3595-19_3595-17del (n.3595-19_3595-17del)
 gnomAD v4
1g.197090407_197090408delCA1308892ASPMn.2924-18_2924-17del
c.9637-18_9637-17del (n.9637-18_9637-17del)
c.9859-18_9859-17del (n.9859-18_9859-17del)
c.9613-18_9613-17del (n.9613-18_9613-17del)
c.4882-18_4882-17del (n.4882-18_4882-17del)
c.2632-18_2632-17del (n.2632-18_2632-17del)
c.3595-18_3595-17del (n.3595-18_3595-17del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090406G>CCA2649660650ASPMn.2924-18C>G
c.9637-18C>G (n.9637-18C>G)
c.9859-18C>G (n.9859-18C>G)
c.9613-18C>G (n.9613-18C>G)
c.4882-18C>G (n.4882-18C>G)
c.2632-18C>G (n.2632-18C>G)
c.3595-18C>G (n.3595-18C>G)
 gnomAD v4
1g.197090406G>TCA2649660651ASPMn.2924-18C>A
c.9637-18C>A (n.9637-18C>A)
c.9859-18C>A (n.9859-18C>A)
c.9613-18C>A (n.9613-18C>A)
c.4882-18C>A (n.4882-18C>A)
c.2632-18C>A (n.2632-18C>A)
c.3595-18C>A (n.3595-18C>A)
 gnomAD v4
1g.197090407A=CA1217925371ASPMn.2924-19T=
c.9637-19T= (n.9637-19T=)
c.9859-19T= (n.9859-19T=)
c.9613-19T= (n.9613-19T=)
c.4882-19T= (n.4882-19T=)
c.2632-19T= (n.2632-19T=)
c.3595-19T= (n.3595-19T=)
1g.197090407A>GCA528279140ASPMn.2924-19T>C
c.9637-19T>C (n.9637-19T>C)
c.9859-19T>C (n.9859-19T>C)
c.9613-19T>C (n.9613-19T>C)
c.4882-19T>C (n.4882-19T>C)
c.2632-19T>C (n.2632-19T>C)
c.3595-19T>C (n.3595-19T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197090408G>ACA1308894ASPMn.2924-20C>T
c.9637-20C>T (n.9637-20C>T)
c.9859-20C>T (n.9859-20C>T)
c.9613-20C>T (n.9613-20C>T)
c.4882-20C>T (n.4882-20C>T)
c.2632-20C>T (n.2632-20C>T)
c.3595-20C>T (n.3595-20C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090408G=CA1144127460ASPMn.2924-20C=
c.9637-20C= (n.9637-20C=)
c.9859-20C= (n.9859-20C=)
c.9613-20C= (n.9613-20C=)
c.4882-20C= (n.4882-20C=)
c.2632-20C= (n.2632-20C=)
c.3595-20C= (n.3595-20C=)
1g.197090408G>TCA2649660652ASPMn.2924-20C>A
c.9637-20C>A (n.9637-20C>A)
c.9859-20C>A (n.9859-20C>A)
c.9613-20C>A (n.9613-20C>A)
c.4882-20C>A (n.4882-20C>A)
c.2632-20C>A (n.2632-20C>A)
c.3595-20C>A (n.3595-20C>A)
 gnomAD v4
1g.197090409T>ACA528279141ASPMn.2924-21A>T
c.9637-21A>T (n.9637-21A>T)
c.9859-21A>T (n.9859-21A>T)
c.9613-21A>T (n.9613-21A>T)
c.4882-21A>T (n.4882-21A>T)
c.2632-21A>T (n.2632-21A>T)
c.3595-21A>T (n.3595-21A>T)
 dbSNP gnomAD v2 gnomAD v4
1g.197090409T=CA1217925373ASPMn.2924-21A=
c.9637-21A= (n.9637-21A=)
c.9859-21A= (n.9859-21A=)
c.9613-21A= (n.9613-21A=)
c.4882-21A= (n.4882-21A=)
c.2632-21A= (n.2632-21A=)
c.3595-21A= (n.3595-21A=)
1g.197090410A>CCA2649660653ASPMn.2924-22T>G
c.9637-22T>G (n.9637-22T>G)
c.9859-22T>G (n.9859-22T>G)
c.9613-22T>G (n.9613-22T>G)
c.4882-22T>G (n.4882-22T>G)
c.2632-22T>G (n.2632-22T>G)
c.3595-22T>G (n.3595-22T>G)
 gnomAD v4
1g.197090410A>GCA2529090050ASPMn.2924-22T>C
c.9637-22T>C (n.9637-22T>C)
c.9859-22T>C (n.9859-22T>C)
c.9613-22T>C (n.9613-22T>C)
c.4882-22T>C (n.4882-22T>C)
c.2632-22T>C (n.2632-22T>C)
c.3595-22T>C (n.3595-22T>C)
1g.197090411A=CA1217925374ASPMn.2924-23T=
c.9637-23T= (n.9637-23T=)
c.9859-23T= (n.9859-23T=)
c.9613-23T= (n.9613-23T=)
c.4882-23T= (n.4882-23T=)
c.2632-23T= (n.2632-23T=)
c.3595-23T= (n.3595-23T=)
1g.197090411A>TCA1308895ASPMn.2924-23T>A
c.9637-23T>A (n.9637-23T>A)
c.9859-23T>A (n.9859-23T>A)
c.9613-23T>A (n.9613-23T>A)
c.4882-23T>A (n.4882-23T>A)
c.2632-23T>A (n.2632-23T>A)
c.3595-23T>A (n.3595-23T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090413T>ACA528279142ASPMn.2924-25A>T
c.9637-25A>T (n.9637-25A>T)
c.9859-25A>T (n.9859-25A>T)
c.9613-25A>T (n.9613-25A>T)
c.4882-25A>T (n.4882-25A>T)
c.2632-25A>T (n.2632-25A>T)
c.3595-25A>T (n.3595-25A>T)
 dbSNP gnomAD v2 gnomAD v4
1g.197090413T>CCA2649660654ASPMn.2924-25A>G
c.9637-25A>G (n.9637-25A>G)
c.9859-25A>G (n.9859-25A>G)
c.9613-25A>G (n.9613-25A>G)
c.4882-25A>G (n.4882-25A>G)
c.2632-25A>G (n.2632-25A>G)
c.3595-25A>G (n.3595-25A>G)
 gnomAD v4
1g.197090413T=CA1217925376ASPMn.2924-25A=
c.9637-25A= (n.9637-25A=)
c.9859-25A= (n.9859-25A=)
c.9613-25A= (n.9613-25A=)
c.4882-25A= (n.4882-25A=)
c.2632-25A= (n.2632-25A=)
c.3595-25A= (n.3595-25A=)
1g.197090415T>CCA2649660655ASPMn.2924-27A>G
c.9637-27A>G (n.9637-27A>G)
c.9859-27A>G (n.9859-27A>G)
c.9613-27A>G (n.9613-27A>G)
c.4882-27A>G (n.4882-27A>G)
c.2632-27A>G (n.2632-27A>G)
c.3595-27A>G (n.3595-27A>G)
 gnomAD v4
1g.197090415_197090418delinsTAAGCA1217925377ASPMn.2924-30_2924-27delinsCTTA
c.9637-30_9637-27delinsCTTA (n.9637-30_9637-27delinsCTTA)
c.9859-30_9859-27delinsCTTA (n.9859-30_9859-27delinsCTTA)
c.9613-30_9613-27delinsCTTA (n.9613-30_9613-27delinsCTTA)
c.4882-30_4882-27delinsCTTA (n.4882-30_4882-27delinsCTTA)
c.2632-30_2632-27delinsCTTA (n.2632-30_2632-27delinsCTTA)
c.3595-30_3595-27delinsCTTA (n.3595-30_3595-27delinsCTTA)
1g.197090416A=CA1148465296ASPMn.2924-28T=
c.9637-28T= (n.9637-28T=)
c.9859-28T= (n.9859-28T=)
c.9613-28T= (n.9613-28T=)
c.4882-28T= (n.4882-28T=)
c.2632-28T= (n.2632-28T=)
c.3595-28T= (n.3595-28T=)
1g.197090416A>GCA1308897ASPMn.2924-28T>C
c.9637-28T>C (n.9637-28T>C)
c.9859-28T>C (n.9859-28T>C)
c.9613-28T>C (n.9613-28T>C)
c.4882-28T>C (n.4882-28T>C)
c.2632-28T>C (n.2632-28T>C)
c.3595-28T>C (n.3595-28T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090416A>TCA2573973560ASPMn.2924-28T>A
c.9637-28T>A (n.9637-28T>A)
c.9859-28T>A (n.9859-28T>A)
c.9613-28T>A (n.9613-28T>A)
c.4882-28T>A (n.4882-28T>A)
c.2632-28T>A (n.2632-28T>A)
c.3595-28T>A (n.3595-28T>A)
1g.197090417_197090419delCA1308896ASPMn.2924-30_2924-28del
c.9637-30_9637-28del (n.9637-30_9637-28del)
c.9859-30_9859-28del (n.9859-30_9859-28del)
c.9613-30_9613-28del (n.9613-30_9613-28del)
c.4882-30_4882-28del (n.4882-30_4882-28del)
c.2632-30_2632-28del (n.2632-30_2632-28del)
c.3595-30_3595-28del (n.3595-30_3595-28del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090417A=CA1217925380ASPMn.2924-29T=
c.9637-29T= (n.9637-29T=)
c.9859-29T= (n.9859-29T=)
c.9613-29T= (n.9613-29T=)
c.4882-29T= (n.4882-29T=)
c.2632-29T= (n.2632-29T=)
c.3595-29T= (n.3595-29T=)
1g.197090417A>GCA1308898ASPMn.2924-29T>C
c.9637-29T>C (n.9637-29T>C)
c.9859-29T>C (n.9859-29T>C)
c.9613-29T>C (n.9613-29T>C)
c.4882-29T>C (n.4882-29T>C)
c.2632-29T>C (n.2632-29T>C)
c.3595-29T>C (n.3595-29T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090418G>TCA2649660656ASPMn.2924-30C>A
c.9637-30C>A (n.9637-30C>A)
c.9859-30C>A (n.9859-30C>A)
c.9613-30C>A (n.9613-30C>A)
c.4882-30C>A (n.4882-30C>A)
c.2632-30C>A (n.2632-30C>A)
c.3595-30C>A (n.3595-30C>A)
 gnomAD v4
1g.197090419A>GCA2649660657ASPMn.2924-31T>C
c.9637-31T>C (n.9637-31T>C)
c.9859-31T>C (n.9859-31T>C)
c.9613-31T>C (n.9613-31T>C)
c.4882-31T>C (n.4882-31T>C)
c.2632-31T>C (n.2632-31T>C)
c.3595-31T>C (n.3595-31T>C)
 gnomAD v4
1g.197090420T>CCA2649660658ASPMn.2924-32A>G
c.9637-32A>G (n.9637-32A>G)
c.9859-32A>G (n.9859-32A>G)
c.9613-32A>G (n.9613-32A>G)
c.4882-32A>G (n.4882-32A>G)
c.2632-32A>G (n.2632-32A>G)
c.3595-32A>G (n.3595-32A>G)
 gnomAD v4
1g.197090421delCA2649660659ASPMn.2924-32del
c.9637-32del (n.9637-32del)
c.9859-32del (n.9859-32del)
c.9613-32del (n.9613-32del)
c.4882-32del (n.4882-32del)
c.2632-32del (n.2632-32del)
c.3595-32del (n.3595-32del)
 gnomAD v4
1g.197090423_197090424delCA2747239577ASPMn.2924-34_2924-33del
c.9637-34_9637-33del (n.9637-34_9637-33del)
c.9859-34_9859-33del (n.9859-34_9859-33del)
c.9613-34_9613-33del (n.9613-34_9613-33del)
c.4882-34_4882-33del (n.4882-34_4882-33del)
c.2632-34_2632-33del (n.2632-34_2632-33del)
c.3595-34_3595-33del (n.3595-34_3595-33del)
1g.197090422A=CA1217925383ASPMn.2924-34T=
c.9637-34T= (n.9637-34T=)
c.9859-34T= (n.9859-34T=)
c.9613-34T= (n.9613-34T=)
c.4882-34T= (n.4882-34T=)
c.2632-34T= (n.2632-34T=)
c.3595-34T= (n.3595-34T=)
1g.197090422A>GCA1308899ASPMn.2924-34T>C
c.9637-34T>C (n.9637-34T>C)
c.9859-34T>C (n.9859-34T>C)
c.9613-34T>C (n.9613-34T>C)
c.4882-34T>C (n.4882-34T>C)
c.2632-34T>C (n.2632-34T>C)
c.3595-34T>C (n.3595-34T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090423T>CCA528279143ASPMn.2924-35A>G
c.9637-35A>G (n.9637-35A>G)
c.9859-35A>G (n.9859-35A>G)
c.9613-35A>G (n.9613-35A>G)
c.4882-35A>G (n.4882-35A>G)
c.2632-35A>G (n.2632-35A>G)
c.3595-35A>G (n.3595-35A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.197090423T=CA1217925384ASPMn.2924-35A=
c.9637-35A= (n.9637-35A=)
c.9859-35A= (n.9859-35A=)
c.9613-35A= (n.9613-35A=)
c.4882-35A= (n.4882-35A=)
c.2632-35A= (n.2632-35A=)
c.3595-35A= (n.3595-35A=)
1g.197090425G>ACA2649660660ASPMn.2924-37C>T
c.9637-37C>T (n.9637-37C>T)
c.9859-37C>T (n.9859-37C>T)
c.9613-37C>T (n.9613-37C>T)
c.4882-37C>T (n.4882-37C>T)
c.2632-37C>T (n.2632-37C>T)
c.3595-37C>T (n.3595-37C>T)
 gnomAD v4
1g.197090425G>TCA2649660661ASPMn.2924-37C>A
c.9637-37C>A (n.9637-37C>A)
c.9859-37C>A (n.9859-37C>A)
c.9613-37C>A (n.9613-37C>A)
c.4882-37C>A (n.4882-37C>A)
c.2632-37C>A (n.2632-37C>A)
c.3595-37C>A (n.3595-37C>A)
 gnomAD v4
1g.197090426C>ACA1308901ASPMn.2924-38G>T
c.9637-38G>T (n.9637-38G>T)
c.9859-38G>T (n.9859-38G>T)
c.9613-38G>T (n.9613-38G>T)
c.4882-38G>T (n.4882-38G>T)
c.2632-38G>T (n.2632-38G>T)
c.3595-38G>T (n.3595-38G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090426C=CA1141542380ASPMn.2924-38G=
c.9637-38G= (n.9637-38G=)
c.9859-38G= (n.9859-38G=)
c.9613-38G= (n.9613-38G=)
c.4882-38G= (n.4882-38G=)
c.2632-38G= (n.2632-38G=)
c.3595-38G= (n.3595-38G=)
1g.197090426C>TCA1308900ASPMn.2924-38G>A
c.9637-38G>A (n.9637-38G>A)
c.9859-38G>A (n.9859-38G>A)
c.9613-38G>A (n.9613-38G>A)
c.4882-38G>A (n.4882-38G>A)
c.2632-38G>A (n.2632-38G>A)
c.3595-38G>A (n.3595-38G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090427C>ACA2649660662ASPMn.2924-39G>T
c.9637-39G>T (n.9637-39G>T)
c.9859-39G>T (n.9859-39G>T)
c.9613-39G>T (n.9613-39G>T)
c.4882-39G>T (n.4882-39G>T)
c.2632-39G>T (n.2632-39G>T)
c.3595-39G>T (n.3595-39G>T)
 gnomAD v4
1g.197090428A=CA1217925387ASPMn.2924-40T=
c.9637-40T= (n.9637-40T=)
c.9859-40T= (n.9859-40T=)
c.9613-40T= (n.9613-40T=)
c.4882-40T= (n.4882-40T=)
c.2632-40T= (n.2632-40T=)
c.3595-40T= (n.3595-40T=)
1g.197090428A>CCA1308902ASPMn.2924-40T>G
c.9637-40T>G (n.9637-40T>G)
c.9859-40T>G (n.9859-40T>G)
c.9613-40T>G (n.9613-40T>G)
c.4882-40T>G (n.4882-40T>G)
c.2632-40T>G (n.2632-40T>G)
c.3595-40T>G (n.3595-40T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090429A=CA1217925389ASPMn.2924-41T=
c.9637-41T= (n.9637-41T=)
c.9859-41T= (n.9859-41T=)
c.9613-41T= (n.9613-41T=)
c.4882-41T= (n.4882-41T=)
c.2632-41T= (n.2632-41T=)
c.3595-41T= (n.3595-41T=)
1g.197090429A>GCA1308903ASPMn.2924-41T>C
c.9637-41T>C (n.9637-41T>C)
c.9859-41T>C (n.9859-41T>C)
c.9613-41T>C (n.9613-41T>C)
c.4882-41T>C (n.4882-41T>C)
c.2632-41T>C (n.2632-41T>C)
c.3595-41T>C (n.3595-41T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090430T>ACA2649660663ASPMn.2924-42A>T
c.9637-42A>T (n.9637-42A>T)
c.9859-42A>T (n.9859-42A>T)
c.9613-42A>T (n.9613-42A>T)
c.4882-42A>T (n.4882-42A>T)
c.2632-42A>T (n.2632-42A>T)
c.3595-42A>T (n.3595-42A>T)
 gnomAD v4
1g.197090430T>CCA528279144ASPMn.2924-42A>G
c.9637-42A>G (n.9637-42A>G)
c.9859-42A>G (n.9859-42A>G)
c.9613-42A>G (n.9613-42A>G)
c.4882-42A>G (n.4882-42A>G)
c.2632-42A>G (n.2632-42A>G)
c.3595-42A>G (n.3595-42A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.197090430T=CA1217925390ASPMn.2924-42A=
c.9637-42A= (n.9637-42A=)
c.9859-42A= (n.9859-42A=)
c.9613-42A= (n.9613-42A=)
c.4882-42A= (n.4882-42A=)
c.2632-42A= (n.2632-42A=)
c.3595-42A= (n.3595-42A=)
1g.197090431G>TCA2649660664ASPMn.2924-43C>A
c.9637-43C>A (n.9637-43C>A)
c.9859-43C>A (n.9859-43C>A)
c.9613-43C>A (n.9613-43C>A)
c.4882-43C>A (n.4882-43C>A)
c.2632-43C>A (n.2632-43C>A)
c.3595-43C>A (n.3595-43C>A)
 gnomAD v4
1g.197090432T>ACA2649660665ASPMn.2924-44A>T
c.9637-44A>T (n.9637-44A>T)
c.9859-44A>T (n.9859-44A>T)
c.9613-44A>T (n.9613-44A>T)
c.4882-44A>T (n.4882-44A>T)
c.2632-44A>T (n.2632-44A>T)
c.3595-44A>T (n.3595-44A>T)
 gnomAD v4
1g.197090436C>ACA2649660666ASPMn.2924-48G>T
c.9637-48G>T (n.9637-48G>T)
c.9859-48G>T (n.9859-48G>T)
c.9613-48G>T (n.9613-48G>T)
c.4882-48G>T (n.4882-48G>T)
c.2632-48G>T (n.2632-48G>T)
c.3595-48G>T (n.3595-48G>T)
 gnomAD v4
1g.197090437T>ACA2573973608ASPMn.2924-49A>T
c.9637-49A>T (n.9637-49A>T)
c.9859-49A>T (n.9859-49A>T)
c.9613-49A>T (n.9613-49A>T)
c.4882-49A>T (n.4882-49A>T)
c.2632-49A>T (n.2632-49A>T)
c.3595-49A>T (n.3595-49A>T)
1g.197090437T>CCA1308904ASPMn.2924-49A>G
c.9637-49A>G (n.9637-49A>G)
c.9859-49A>G (n.9859-49A>G)
c.9613-49A>G (n.9613-49A>G)
c.4882-49A>G (n.4882-49A>G)
c.2632-49A>G (n.2632-49A>G)
c.3595-49A>G (n.3595-49A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090437T=CA1217925391ASPMn.2924-49A=
c.9637-49A= (n.9637-49A=)
c.9859-49A= (n.9859-49A=)
c.9613-49A= (n.9613-49A=)
c.4882-49A= (n.4882-49A=)
c.2632-49A= (n.2632-49A=)
c.3595-49A= (n.3595-49A=)
1g.197090440_197090445delCA2649660667ASPMn.2924-54_2924-49del
c.9637-54_9637-49del (n.9637-54_9637-49del)
c.9859-54_9859-49del (n.9859-54_9859-49del)
c.9613-54_9613-49del (n.9613-54_9613-49del)
c.4882-54_4882-49del (n.4882-54_4882-49del)
c.2632-54_2632-49del (n.2632-54_2632-49del)
c.3595-54_3595-49del (n.3595-54_3595-49del)
 gnomAD v4
1g.197090439T>CCA528279145ASPMn.2924-51A>G
c.9637-51A>G (n.9637-51A>G)
c.9859-51A>G (n.9859-51A>G)
c.9613-51A>G (n.9613-51A>G)
c.4882-51A>G (n.4882-51A>G)
c.2632-51A>G (n.2632-51A>G)
c.3595-51A>G (n.3595-51A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.197090439T=CA1217925392ASPMn.2924-51A=
c.9637-51A= (n.9637-51A=)
c.9859-51A= (n.9859-51A=)
c.9613-51A= (n.9613-51A=)
c.4882-51A= (n.4882-51A=)
c.2632-51A= (n.2632-51A=)
c.3595-51A= (n.3595-51A=)
1g.197090440T>CCA1217925394ASPMn.2924-52A>G
c.9637-52A>G (n.9637-52A>G)
c.9859-52A>G (n.9859-52A>G)
c.9613-52A>G (n.9613-52A>G)
c.4882-52A>G (n.4882-52A>G)
c.2632-52A>G (n.2632-52A>G)
c.3595-52A>G (n.3595-52A>G)
 dbSNP
1g.197090440T=CA1217925393ASPMn.2924-52A=
c.9637-52A= (n.9637-52A=)
c.9859-52A= (n.9859-52A=)
c.9613-52A= (n.9613-52A=)
c.4882-52A= (n.4882-52A=)
c.2632-52A= (n.2632-52A=)
c.3595-52A= (n.3595-52A=)
1g.197090441T>ACA2649660668ASPMn.2924-53A>T
c.9637-53A>T (n.9637-53A>T)
c.9859-53A>T (n.9859-53A>T)
c.9613-53A>T (n.9613-53A>T)
c.4882-53A>T (n.4882-53A>T)
c.2632-53A>T (n.2632-53A>T)
c.3595-53A>T (n.3595-53A>T)
 gnomAD v4
1g.197090442A>GCA2557909893ASPMn.2924-54T>C
c.9637-54T>C (n.9637-54T>C)
c.9859-54T>C (n.9859-54T>C)
c.9613-54T>C (n.9613-54T>C)
c.4882-54T>C (n.4882-54T>C)
c.2632-54T>C (n.2632-54T>C)
c.3595-54T>C (n.3595-54T>C)
 gnomAD v4
1g.197090443T>CCA1217925396ASPMn.2924-55A>G
c.9637-55A>G (n.9637-55A>G)
c.9859-55A>G (n.9859-55A>G)
c.9613-55A>G (n.9613-55A>G)
c.4882-55A>G (n.4882-55A>G)
c.2632-55A>G (n.2632-55A>G)
c.3595-55A>G (n.3595-55A>G)
 dbSNP gnomAD v4
1g.197090443T>GCA1217925398ASPMn.2924-55A>C
c.9637-55A>C (n.9637-55A>C)
c.9859-55A>C (n.9859-55A>C)
c.9613-55A>C (n.9613-55A>C)
c.4882-55A>C (n.4882-55A>C)
c.2632-55A>C (n.2632-55A>C)
c.3595-55A>C (n.3595-55A>C)
 dbSNP gnomAD v4
1g.197090443T=CA1217925395ASPMn.2924-55A=
c.9637-55A= (n.9637-55A=)
c.9859-55A= (n.9859-55A=)
c.9613-55A= (n.9613-55A=)
c.4882-55A= (n.4882-55A=)
c.2632-55A= (n.2632-55A=)
c.3595-55A= (n.3595-55A=)
1g.197090445T>GCA1217925399ASPMn.2924-57A>C
c.9637-57A>C (n.9637-57A>C)
c.9859-57A>C (n.9859-57A>C)
c.9613-57A>C (n.9613-57A>C)
c.4882-57A>C (n.4882-57A>C)
c.2632-57A>C (n.2632-57A>C)
c.3595-57A>C (n.3595-57A>C)
 dbSNP
1g.197090445T=CA1217925400ASPMn.2924-57A=
c.9637-57A= (n.9637-57A=)
c.9859-57A= (n.9859-57A=)
c.9613-57A= (n.9613-57A=)
c.4882-57A= (n.4882-57A=)
c.2632-57A= (n.2632-57A=)
c.3595-57A= (n.3595-57A=)
1g.197090446C=CA1217925401ASPMn.2924-58G=
c.9637-58G= (n.9637-58G=)
c.9859-58G= (n.9859-58G=)
c.9613-58G= (n.9613-58G=)
c.4882-58G= (n.4882-58G=)
c.2632-58G= (n.2632-58G=)
c.3595-58G= (n.3595-58G=)
1g.197090446C>TCA729742579ASPMn.2924-58G>A
c.9637-58G>A (n.9637-58G>A)
c.9859-58G>A (n.9859-58G>A)
c.9613-58G>A (n.9613-58G>A)
c.4882-58G>A (n.4882-58G>A)
c.2632-58G>A (n.2632-58G>A)
c.3595-58G>A (n.3595-58G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.197090447T>ACA2573973622ASPMn.2924-59A>T
c.9637-59A>T (n.9637-59A>T)
c.9859-59A>T (n.9859-59A>T)
c.9613-59A>T (n.9613-59A>T)
c.4882-59A>T (n.4882-59A>T)
c.2632-59A>T (n.2632-59A>T)
c.3595-59A>T (n.3595-59A>T)
 gnomAD v4
1g.197090447T>GCA2649660669ASPMn.2924-59A>C
c.9637-59A>C (n.9637-59A>C)
c.9859-59A>C (n.9859-59A>C)
c.9613-59A>C (n.9613-59A>C)
c.4882-59A>C (n.4882-59A>C)
c.2632-59A>C (n.2632-59A>C)
c.3595-59A>C (n.3595-59A>C)
 gnomAD v4
1g.197090449C=CA1217925403ASPMn.2924-61G=
c.9637-61G= (n.9637-61G=)
c.9859-61G= (n.9859-61G=)
c.9613-61G= (n.9613-61G=)
c.4882-61G= (n.4882-61G=)
c.2632-61G= (n.2632-61G=)
c.3595-61G= (n.3595-61G=)
1g.197090449C>TCA35862080ASPMn.2924-61G>A
c.9637-61G>A (n.9637-61G>A)
c.9859-61G>A (n.9859-61G>A)
c.9613-61G>A (n.9613-61G>A)
c.4882-61G>A (n.4882-61G>A)
c.2632-61G>A (n.2632-61G>A)
c.3595-61G>A (n.3595-61G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197090450delCA2649660670ASPMn.2924-62del
c.9637-62del (n.9637-62del)
c.9859-62del (n.9859-62del)
c.9613-62del (n.9613-62del)
c.4882-62del (n.4882-62del)
c.2632-62del (n.2632-62del)
c.3595-62del (n.3595-62del)
 gnomAD v4
1g.197090450A>GCA2747239578ASPMn.2924-62T>C
c.9637-62T>C (n.9637-62T>C)
c.9859-62T>C (n.9859-62T>C)
c.9613-62T>C (n.9613-62T>C)
c.4882-62T>C (n.4882-62T>C)
c.2632-62T>C (n.2632-62T>C)
c.3595-62T>C (n.3595-62T>C)
1g.197090451T>ACA2649660671ASPMn.2924-63A>T
c.9637-63A>T (n.9637-63A>T)
c.9859-63A>T (n.9859-63A>T)
c.9613-63A>T (n.9613-63A>T)
c.4882-63A>T (n.4882-63A>T)
c.2632-63A>T (n.2632-63A>T)
c.3595-63A>T (n.3595-63A>T)
 gnomAD v4
1g.197090452C>TCA2649660672ASPMn.2924-64G>A
c.9637-64G>A (n.9637-64G>A)
c.9859-64G>A (n.9859-64G>A)
c.9613-64G>A (n.9613-64G>A)
c.4882-64G>A (n.4882-64G>A)
c.2632-64G>A (n.2632-64G>A)
c.3595-64G>A (n.3595-64G>A)
 gnomAD v4
1g.197090453T>ACA35862081ASPMn.2924-65A>T
c.9637-65A>T (n.9637-65A>T)
c.9859-65A>T (n.9859-65A>T)
c.9613-65A>T (n.9613-65A>T)
c.4882-65A>T (n.4882-65A>T)
c.2632-65A>T (n.2632-65A>T)
c.3595-65A>T (n.3595-65A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197090453T=CA1217925405ASPMn.2924-65A=
c.9637-65A= (n.9637-65A=)
c.9859-65A= (n.9859-65A=)
c.9613-65A= (n.9613-65A=)
c.4882-65A= (n.4882-65A=)
c.2632-65A= (n.2632-65A=)
c.3595-65A= (n.3595-65A=)
1g.197090454G>ACA2649660673ASPMn.2924-66C>T
c.9637-66C>T (n.9637-66C>T)
c.9859-66C>T (n.9859-66C>T)
c.9613-66C>T (n.9613-66C>T)
c.4882-66C>T (n.4882-66C>T)
c.2632-66C>T (n.2632-66C>T)
c.3595-66C>T (n.3595-66C>T)
 gnomAD v4
1g.197090454G>TCA2573973647ASPMn.2924-66C>A
c.9637-66C>A (n.9637-66C>A)
c.9859-66C>A (n.9859-66C>A)
c.9613-66C>A (n.9613-66C>A)
c.4882-66C>A (n.4882-66C>A)
c.2632-66C>A (n.2632-66C>A)
c.3595-66C>A (n.3595-66C>A)
 gnomAD v4

Number of alleles fetched