Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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)
1g.197093184A>CCA422673181ASPMn.2449T>G
c.9162T>G (p.Ser3054=)
c.9384T>G (p.Ser3128=)
c.4407T>G (p.Ser1469=)
c.2157T>G (p.Ser719=)
c.3120T>G (p.Ser1040=)
1g.197093184A>GCA422673182ASPMn.2449T>C
c.9162T>C (p.Ser3054=)
c.9384T>C (p.Ser3128=)
c.4407T>C (p.Ser1469=)
c.2157T>C (p.Ser719=)
c.3120T>C (p.Ser1040=)
1g.197093184A>TCA422673184ASPMn.2449T>A
c.9162T>A (p.Ser3054=)
c.9384T>A (p.Ser3128=)
c.4407T>A (p.Ser1469=)
c.2157T>A (p.Ser719=)
c.3120T>A (p.Ser1040=)
1g.197093185G>ACA344007321ASPMn.2448C>T
c.9161C>T (p.Ser3054Phe)
c.9383C>T (p.Ser3128Phe)
c.4406C>T (p.Ser1469Phe)
c.2156C>T (p.Ser719Phe)
c.3119C>T (p.Ser1040Phe)
1g.197093185G>CCA344007327ASPMn.2448C>G
c.9161C>G (p.Ser3054Cys)
c.9383C>G (p.Ser3128Cys)
c.4406C>G (p.Ser1469Cys)
c.2156C>G (p.Ser719Cys)
c.3119C>G (p.Ser1040Cys)
1g.197093185G>TCA344007323ASPMn.2448C>A
c.9161C>A (p.Ser3054Tyr)
c.9383C>A (p.Ser3128Tyr)
c.4406C>A (p.Ser1469Tyr)
c.2156C>A (p.Ser719Tyr)
c.3119C>A (p.Ser1040Tyr)
1g.197093186A=CA1217926718ASPMn.2447T=
c.9160T= (p.Ser3054=)
c.9382T= (p.Ser3128=)
c.4405T= (p.Ser1469=)
c.2155T= (p.Ser719=)
c.3118T= (p.Ser1040=)
1g.197093186A>CCA344007329ASPMn.2447T>G
c.9160T>G (p.Ser3054Ala)
c.9382T>G (p.Ser3128Ala)
c.4405T>G (p.Ser1469Ala)
c.2155T>G (p.Ser719Ala)
c.3118T>G (p.Ser1040Ala)
1g.197093186A>GCA344007330ASPMn.2447T>C
c.9160T>C (p.Ser3054Pro)
c.9382T>C (p.Ser3128Pro)
c.4405T>C (p.Ser1469Pro)
c.2155T>C (p.Ser719Pro)
c.3118T>C (p.Ser1040Pro)
1g.197093186A>TCA1309027ASPMn.2447T>A
c.9160T>A (p.Ser3054Thr)
c.9382T>A (p.Ser3128Thr)
c.4405T>A (p.Ser1469Thr)
c.2155T>A (p.Ser719Thr)
c.3118T>A (p.Ser1040Thr)
 ClinVar dbSNP ExAC gnomAD v2
1g.197093186_197093187delinsATCA1217926717ASPMn.2446_2447delinsAT
c.9159_9160delinsAT (p.Lys3053=)
c.9381_9382delinsAT (p.Lys3127=)
c.4404_4405delinsAT (p.Lys1468=)
c.2154_2155delinsAT (p.Lys718=)
c.3117_3118delinsAT (p.Lys1039=)
1g.197093187T>ACA344007337ASPMn.2446A>T
c.9159A>T (p.Lys3053Asn)
c.9381A>T (p.Lys3127Asn)
c.4404A>T (p.Lys1468Asn)
c.2154A>T (p.Lys718Asn)
c.3117A>T (p.Lys1039Asn)
1g.197093187T>CCA1309028ASPMn.2446A>G
c.9159A>G (p.Lys3053=)
c.9381A>G (p.Lys3127=)
c.4404A>G (p.Lys1468=)
c.2154A>G (p.Lys718=)
c.3117A>G (p.Lys1039=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197093187T>GCA344007340ASPMn.2446A>C
c.9159A>C (p.Lys3053Asn)
c.9381A>C (p.Lys3127Asn)
c.4404A>C (p.Lys1468Asn)
c.2154A>C (p.Lys718Asn)
c.3117A>C (p.Lys1039Asn)
1g.197093187T=CA1217926719ASPMn.2446A=
c.9159A= (p.Lys3053=)
c.9381A= (p.Lys3127=)
c.4404A= (p.Lys1468=)
c.2154A= (p.Lys718=)
c.3117A= (p.Lys1039=)
1g.197093187_197093189delinsTTTCA1143355795ASPMn.2444_2446delinsAAA
c.9157_9159delinsAAA (p.Lys3053=)
c.9379_9381delinsAAA (p.Lys3127=)
c.4402_4404delinsAAA (p.Lys1468=)
c.2152_2154delinsAAA (p.Lys718=)
c.3115_3117delinsAAA (p.Lys1039=)
1g.197093189delCA340324ASPMn.2446del
c.9159del (p.Lys3053AsnfsTer5)
c.9381del (p.Lys3127AsnfsTer5)
c.4404del (p.Lys1468AsnfsTer5)
c.2154del (p.Lys718AsnfsTer5)
c.3117del (p.Lys1039AsnfsTer5)
 ClinVar dbSNP
1g.197093188T>ACA35863500ASPMn.2445A>T
c.9158A>T (p.Lys3053Ile)
c.9380A>T (p.Lys3127Ile)
c.4403A>T (p.Lys1468Ile)
c.2153A>T (p.Lys718Ile)
c.3116A>T (p.Lys1039Ile)
 dbSNP
1g.197093188T>CCA344007345ASPMn.2445A>G
c.9158A>G (p.Lys3053Arg)
c.9380A>G (p.Lys3127Arg)
c.4403A>G (p.Lys1468Arg)
c.2153A>G (p.Lys718Arg)
c.3116A>G (p.Lys1039Arg)
 dbSNP
1g.197093188T>GCA344007348ASPMn.2445A>C
c.9158A>C (p.Lys3053Thr)
c.9380A>C (p.Lys3127Thr)
c.4403A>C (p.Lys1468Thr)
c.2153A>C (p.Lys718Thr)
c.3116A>C (p.Lys1039Thr)
1g.197093188T=CA1217926720ASPMn.2445A=
c.9158A= (p.Lys3053=)
c.9380A= (p.Lys3127=)
c.4403A= (p.Lys1468=)
c.2153A= (p.Lys718=)
c.3116A= (p.Lys1039=)
1g.197093189T>ACA344007353ASPMn.2444A>T
c.9157A>T (p.Lys3053Ter)
c.9379A>T (p.Lys3127Ter)
c.4402A>T (p.Lys1468Ter)
c.2152A>T (p.Lys718Ter)
c.3115A>T (p.Lys1039Ter)
1g.197093189T>CCA344007351ASPMn.2444A>G
c.9157A>G (p.Lys3053Glu)
c.9379A>G (p.Lys3127Glu)
c.4402A>G (p.Lys1468Glu)
c.2152A>G (p.Lys718Glu)
c.3115A>G (p.Lys1039Glu)
1g.197093189T>GCA344007350ASPMn.2444A>C
c.9157A>C (p.Lys3053Gln)
c.9379A>C (p.Lys3127Gln)
c.4402A>C (p.Lys1468Gln)
c.2152A>C (p.Lys718Gln)
c.3115A>C (p.Lys1039Gln)
1g.197093190C>ACA344007355ASPMn.2443G>T
c.9156G>T (p.Gln3052His)
c.9378G>T (p.Gln3126His)
c.4401G>T (p.Gln1467His)
c.2151G>T (p.Gln717His)
c.3114G>T (p.Gln1038His)
1g.197093190C=CA1217926721ASPMn.2443G=
c.9156G= (p.Gln3052=)
c.9378G= (p.Gln3126=)
c.4401G= (p.Gln1467=)
c.2151G= (p.Gln717=)
c.3114G= (p.Gln1038=)
1g.197093190C>GCA344007357ASPMn.2443G>C
c.9156G>C (p.Gln3052His)
c.9378G>C (p.Gln3126His)
c.4401G>C (p.Gln1467His)
c.2151G>C (p.Gln717His)
c.3114G>C (p.Gln1038His)
1g.197093190C>TCA422673188ASPMn.2443G>A
c.9156G>A (p.Gln3052=)
c.9378G>A (p.Gln3126=)
c.4401G>A (p.Gln1467=)
c.2151G>A (p.Gln717=)
c.3114G>A (p.Gln1038=)
 dbSNP gnomAD v4
1g.197093195_197093209delCA2649661168ASPMn.2429_2443del
c.9142_9156del (p.Val3048_Gln3052del)
c.9364_9378del (p.Val3122_Gln3126del)
c.4387_4401del (p.Val1463_Gln1467del)
c.2137_2151del (p.Val713_Gln717del)
c.3100_3114del (p.Val1034_Gln1038del)
 gnomAD v4
1g.197093191T>ACA344007360ASPMn.2442A>T
c.9155A>T (p.Gln3052Leu)
c.9377A>T (p.Gln3126Leu)
c.4400A>T (p.Gln1467Leu)
c.2150A>T (p.Gln717Leu)
c.3113A>T (p.Gln1038Leu)
1g.197093191T>CCA344007362ASPMn.2442A>G
c.9155A>G (p.Gln3052Arg)
c.9377A>G (p.Gln3126Arg)
c.4400A>G (p.Gln1467Arg)
c.2150A>G (p.Gln717Arg)
c.3113A>G (p.Gln1038Arg)
 dbSNP
1g.197093191T>GCA344007364ASPMn.2442A>C
c.9155A>C (p.Gln3052Pro)
c.9377A>C (p.Gln3126Pro)
c.4400A>C (p.Gln1467Pro)
c.2150A>C (p.Gln717Pro)
c.3113A>C (p.Gln1038Pro)
1g.197093191T=CA1217926722ASPMn.2442A=
c.9155A= (p.Gln3052=)
c.9377A= (p.Gln3126=)
c.4400A= (p.Gln1467=)
c.2150A= (p.Gln717=)
c.3113A= (p.Gln1038=)
1g.197093192delCA2747239629ASPMn.2441del
c.9154del (p.Gln3052ArgfsTer6)
c.9376del (p.Gln3126ArgfsTer6)
c.4399del (p.Gln1467ArgfsTer6)
c.2149del (p.Gln717ArgfsTer6)
c.3112del (p.Gln1038ArgfsTer6)
1g.197093192G>ACA344007374ASPMn.2441C>T
c.9154C>T (p.Gln3052Ter)
c.9376C>T (p.Gln3126Ter)
c.4399C>T (p.Gln1467Ter)
c.2149C>T (p.Gln717Ter)
c.3112C>T (p.Gln1038Ter)
1g.197093192G>CCA344007371ASPMn.2441C>G
c.9154C>G (p.Gln3052Glu)
c.9376C>G (p.Gln3126Glu)
c.4399C>G (p.Gln1467Glu)
c.2149C>G (p.Gln717Glu)
c.3112C>G (p.Gln1038Glu)
1g.197093192G>TCA344007369ASPMn.2441C>A
c.9154C>A (p.Gln3052Lys)
c.9376C>A (p.Gln3126Lys)
c.4399C>A (p.Gln1467Lys)
c.2149C>A (p.Gln717Lys)
c.3112C>A (p.Gln1038Lys)
1g.197093193C>ACA422673189ASPMn.2440G>T
c.9153G>T (p.Arg3051=)
c.9375G>T (p.Arg3125=)
c.4398G>T (p.Arg1466=)
c.2148G>T (p.Arg716=)
c.3111G>T (p.Arg1037=)
1g.197093193C>GCA422673190ASPMn.2440G>C
c.9153G>C (p.Arg3051=)
c.9375G>C (p.Arg3125=)
c.4398G>C (p.Arg1466=)
c.2148G>C (p.Arg716=)
c.3111G>C (p.Arg1037=)
1g.197093193C>TCA422673191ASPMn.2440G>A
c.9153G>A (p.Arg3051=)
c.9375G>A (p.Arg3125=)
c.4398G>A (p.Arg1466=)
c.2148G>A (p.Arg716=)
c.3111G>A (p.Arg1037=)
 gnomAD v4
1g.197093194C>ACA344007378ASPMn.2439G>T
c.9152G>T (p.Arg3051Leu)
c.9374G>T (p.Arg3125Leu)
c.4397G>T (p.Arg1466Leu)
c.2147G>T (p.Arg716Leu)
c.3110G>T (p.Arg1037Leu)
1g.197093194C=CA1143568899ASPMn.2439G=
c.9152G= (p.Arg3051=)
c.9374G= (p.Arg3125=)
c.4397G= (p.Arg1466=)
c.2147G= (p.Arg716=)
c.3110G= (p.Arg1037=)
1g.197093194C>GCA344007381ASPMn.2439G>C
c.9152G>C (p.Arg3051Pro)
c.9374G>C (p.Arg3125Pro)
c.4397G>C (p.Arg1466Pro)
c.2147G>C (p.Arg716Pro)
c.3110G>C (p.Arg1037Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.197093194C>TCA1309029ASPMn.2439G>A
c.9152G>A (p.Arg3051Gln)
c.9374G>A (p.Arg3125Gln)
c.4397G>A (p.Arg1466Gln)
c.2147G>A (p.Arg716Gln)
c.3110G>A (p.Arg1037Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197093195G>ACA1309030ASPMn.2438C>T
c.9151C>T (p.Arg3051Trp)
c.9373C>T (p.Arg3125Trp)
c.4396C>T (p.Arg1466Trp)
c.2146C>T (p.Arg716Trp)
c.3109C>T (p.Arg1037Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197093195G>CCA344007393ASPMn.2438C>G
c.9151C>G (p.Arg3051Gly)
c.9373C>G (p.Arg3125Gly)
c.4396C>G (p.Arg1466Gly)
c.2146C>G (p.Arg716Gly)
c.3109C>G (p.Arg1037Gly)
1g.197093195G=CA1141841461ASPMn.2438C=
c.9151C= (p.Arg3051=)
c.9373C= (p.Arg3125=)
c.4396C= (p.Arg1466=)
c.2146C= (p.Arg716=)
c.3109C= (p.Arg1037=)
1g.197093195G>TCA1309031ASPMn.2438C>A
c.9151C>A (p.Arg3051=)
c.9373C>A (p.Arg3125=)
c.4396C>A (p.Arg1466=)
c.2146C>A (p.Arg716=)
c.3109C>A (p.Arg1037=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197093196A>CCA422673193ASPMn.2437T>G
c.9150T>G (p.Leu3050=)
c.9372T>G (p.Leu3124=)
c.4395T>G (p.Leu1465=)
c.2145T>G (p.Leu715=)
c.3108T>G (p.Leu1036=)
1g.197093196A>GCA422673194ASPMn.2437T>C
c.9150T>C (p.Leu3050=)
c.9372T>C (p.Leu3124=)
c.4395T>C (p.Leu1465=)
c.2145T>C (p.Leu715=)
c.3108T>C (p.Leu1036=)
1g.197093196A>TCA422673195ASPMn.2437T>A
c.9150T>A (p.Leu3050=)
c.9372T>A (p.Leu3124=)
c.4395T>A (p.Leu1465=)
c.2145T>A (p.Leu715=)
c.3108T>A (p.Leu1036=)
1g.197093200_197093203delCA2649661169ASPMn.2434_2437del
c.9147_9150del (p.Leu3050GlyfsTer7)
c.9369_9372del (p.Leu3124GlyfsTer7)
c.4392_4395del (p.Leu1465GlyfsTer7)
c.2142_2145del (p.Leu715GlyfsTer7)
c.3105_3108del (p.Leu1036GlyfsTer7)
 gnomAD v4
1g.197093197A>CCA344007399ASPMn.2436T>G
c.9149T>G (p.Leu3050Arg)
c.9371T>G (p.Leu3124Arg)
c.4394T>G (p.Leu1465Arg)
c.2144T>G (p.Leu715Arg)
c.3107T>G (p.Leu1036Arg)
1g.197093197A>GCA344007413ASPMn.2436T>C
c.9149T>C (p.Leu3050Pro)
c.9371T>C (p.Leu3124Pro)
c.4394T>C (p.Leu1465Pro)
c.2144T>C (p.Leu715Pro)
c.3107T>C (p.Leu1036Pro)
1g.197093197A>TCA344007402ASPMn.2436T>A
c.9149T>A (p.Leu3050His)
c.9371T>A (p.Leu3124His)
c.4394T>A (p.Leu1465His)
c.2144T>A (p.Leu715His)
c.3107T>A (p.Leu1036His)
1g.197093198G>ACA344007419ASPMn.2435C>T
c.9148C>T (p.Leu3050Phe)
c.9370C>T (p.Leu3124Phe)
c.4393C>T (p.Leu1465Phe)
c.2143C>T (p.Leu715Phe)
c.3106C>T (p.Leu1036Phe)
1g.197093198G>CCA344007425ASPMn.2435C>G
c.9148C>G (p.Leu3050Val)
c.9370C>G (p.Leu3124Val)
c.4393C>G (p.Leu1465Val)
c.2143C>G (p.Leu715Val)
c.3106C>G (p.Leu1036Val)
1g.197093198G>TCA344007429ASPMn.2435C>A
c.9148C>A (p.Leu3050Ile)
c.9370C>A (p.Leu3124Ile)
c.4393C>A (p.Leu1465Ile)
c.2143C>A (p.Leu715Ile)
c.3106C>A (p.Leu1036Ile)
1g.197093199A>CCA344007432ASPMn.2434T>G
c.9147T>G (p.Phe3049Leu)
c.9369T>G (p.Phe3123Leu)
c.4392T>G (p.Phe1464Leu)
c.2142T>G (p.Phe714Leu)
c.3105T>G (p.Phe1035Leu)
1g.197093199A>GCA422673197ASPMn.2434T>C
c.9147T>C (p.Phe3049=)
c.9369T>C (p.Phe3123=)
c.4392T>C (p.Phe1464=)
c.2142T>C (p.Phe714=)
c.3105T>C (p.Phe1035=)
1g.197093199A>TCA344007446ASPMn.2434T>A
c.9147T>A (p.Phe3049Leu)
c.9369T>A (p.Phe3123Leu)
c.4392T>A (p.Phe1464Leu)
c.2142T>A (p.Phe714Leu)
c.3105T>A (p.Phe1035Leu)
1g.197093201dupCA2649661170ASPMn.2434dup
c.9147dup (p.Leu3050SerfsTer23)
c.9369dup (p.Leu3124SerfsTer23)
c.4392dup (p.Leu1465SerfsTer23)
c.2142dup (p.Leu715SerfsTer23)
c.3105dup (p.Leu1036SerfsTer23)
 gnomAD v4
1g.197093200A=CA1217926723ASPMn.2433T=
c.9146T= (p.Phe3049=)
c.9368T= (p.Phe3123=)
c.4391T= (p.Phe1464=)
c.2141T= (p.Phe714=)
c.3104T= (p.Phe1035=)
1g.197093200A>CCA344007452ASPMn.2433T>G
c.9146T>G (p.Phe3049Cys)
c.9368T>G (p.Phe3123Cys)
c.4391T>G (p.Phe1464Cys)
c.2141T>G (p.Phe714Cys)
c.3104T>G (p.Phe1035Cys)
 dbSNP gnomAD v2 gnomAD v4
1g.197093200A>GCA344007456ASPMn.2433T>C
c.9146T>C (p.Phe3049Ser)
c.9368T>C (p.Phe3123Ser)
c.4391T>C (p.Phe1464Ser)
c.2141T>C (p.Phe714Ser)
c.3104T>C (p.Phe1035Ser)
1g.197093200A>TCA344007458ASPMn.2433T>A
c.9146T>A (p.Phe3049Tyr)
c.9368T>A (p.Phe3123Tyr)
c.4391T>A (p.Phe1464Tyr)
c.2141T>A (p.Phe714Tyr)
c.3104T>A (p.Phe1035Tyr)
1g.197093201A>CCA344007461ASPMn.2432T>G
c.9145T>G (p.Phe3049Val)
c.9367T>G (p.Phe3123Val)
c.4390T>G (p.Phe1464Val)
c.2140T>G (p.Phe714Val)
c.3103T>G (p.Phe1035Val)
1g.197093201A>GCA344007466ASPMn.2432T>C
c.9145T>C (p.Phe3049Leu)
c.9367T>C (p.Phe3123Leu)
c.4390T>C (p.Phe1464Leu)
c.2140T>C (p.Phe714Leu)
c.3103T>C (p.Phe1035Leu)
1g.197093201A>TCA344007469ASPMn.2432T>A
c.9145T>A (p.Phe3049Ile)
c.9367T>A (p.Phe3123Ile)
c.4390T>A (p.Phe1464Ile)
c.2140T>A (p.Phe714Ile)
c.3103T>A (p.Phe1035Ile)
1g.197093202G>ACA422673199ASPMn.2431C>T
c.9144C>T (p.Val3048=)
c.9366C>T (p.Val3122=)
c.4389C>T (p.Val1463=)
c.2139C>T (p.Val713=)
c.3102C>T (p.Val1034=)
1g.197093202G>CCA422673201ASPMn.2431C>G
c.9144C>G (p.Val3048=)
c.9366C>G (p.Val3122=)
c.4389C>G (p.Val1463=)
c.2139C>G (p.Val713=)
c.3102C>G (p.Val1034=)
 ClinVar dbSNP COSMIC
1g.197093202G=CA1217926724ASPMn.2431C=
c.9144C= (p.Val3048=)
c.9366C= (p.Val3122=)
c.4389C= (p.Val1463=)
c.2139C= (p.Val713=)
c.3102C= (p.Val1034=)
1g.197093202G>TCA422673202ASPMn.2431C>A
c.9144C>A (p.Val3048=)
c.9366C>A (p.Val3122=)
c.4389C>A (p.Val1463=)
c.2139C>A (p.Val713=)
c.3102C>A (p.Val1034=)
1g.197093203A>CCA344007473ASPMn.2430T>G
c.9143T>G (p.Val3048Gly)
c.9365T>G (p.Val3122Gly)
c.4388T>G (p.Val1463Gly)
c.2138T>G (p.Val713Gly)
c.3101T>G (p.Val1034Gly)
1g.197093203A>GCA344007483ASPMn.2430T>C
c.9143T>C (p.Val3048Ala)
c.9365T>C (p.Val3122Ala)
c.4388T>C (p.Val1463Ala)
c.2138T>C (p.Val713Ala)
c.3101T>C (p.Val1034Ala)
1g.197093203A>TCA344007478ASPMn.2430T>A
c.9143T>A (p.Val3048Asp)
c.9365T>A (p.Val3122Asp)
c.4388T>A (p.Val1463Asp)
c.2138T>A (p.Val713Asp)
c.3101T>A (p.Val1034Asp)
1g.197093204C>ACA344007490ASPMn.2429G>T
c.9142G>T (p.Val3048Phe)
c.9364G>T (p.Val3122Phe)
c.4387G>T (p.Val1463Phe)
c.2137G>T (p.Val713Phe)
c.3100G>T (p.Val1034Phe)
1g.197093204C>GCA344007496ASPMn.2429G>C
c.9142G>C (p.Val3048Leu)
c.9364G>C (p.Val3122Leu)
c.4387G>C (p.Val1463Leu)
c.2137G>C (p.Val713Leu)
c.3100G>C (p.Val1034Leu)
1g.197093204C>TCA344007493ASPMn.2429G>A
c.9142G>A (p.Val3048Ile)
c.9364G>A (p.Val3122Ile)
c.4387G>A (p.Val1463Ile)
c.2137G>A (p.Val713Ile)
c.3100G>A (p.Val1034Ile)
1g.197093205C>ACA344007499ASPMn.2428G>T
c.9141G>T (p.Gln3047His)
c.9363G>T (p.Gln3121His)
c.4386G>T (p.Gln1462His)
c.2136G>T (p.Gln712His)
c.3099G>T (p.Gln1033His)
1g.197093205C>GCA344007501ASPMn.2428G>C
c.9141G>C (p.Gln3047His)
c.9363G>C (p.Gln3121His)
c.4386G>C (p.Gln1462His)
c.2136G>C (p.Gln712His)
c.3099G>C (p.Gln1033His)
1g.197093205C>TCA422673204ASPMn.2428G>A
c.9141G>A (p.Gln3047=)
c.9363G>A (p.Gln3121=)
c.4386G>A (p.Gln1462=)
c.2136G>A (p.Gln712=)
c.3099G>A (p.Gln1033=)
1g.197093206T>ACA344007505ASPMn.2427A>T
c.9140A>T (p.Gln3047Leu)
c.9362A>T (p.Gln3121Leu)
c.4385A>T (p.Gln1462Leu)
c.2135A>T (p.Gln712Leu)
c.3098A>T (p.Gln1033Leu)
1g.197093206T>CCA344007507ASPMn.2427A>G
c.9140A>G (p.Gln3047Arg)
c.9362A>G (p.Gln3121Arg)
c.4385A>G (p.Gln1462Arg)
c.2135A>G (p.Gln712Arg)
c.3098A>G (p.Gln1033Arg)
1g.197093206T>GCA344007511ASPMn.2427A>C
c.9140A>C (p.Gln3047Pro)
c.9362A>C (p.Gln3121Pro)
c.4385A>C (p.Gln1462Pro)
c.2135A>C (p.Gln712Pro)
c.3098A>C (p.Gln1033Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.197093206T=CA1217926725ASPMn.2427A=
c.9140A= (p.Gln3047=)
c.9362A= (p.Gln3121=)
c.4385A= (p.Gln1462=)
c.2135A= (p.Gln712=)
c.3098A= (p.Gln1033=)
1g.197093207G>ACA344007514ASPMn.2426C>T
c.9139C>T (p.Gln3047Ter)
c.9361C>T (p.Gln3121Ter)
c.4384C>T (p.Gln1462Ter)
c.2134C>T (p.Gln712Ter)
c.3097C>T (p.Gln1033Ter)
1g.197093207G>CCA344007517ASPMn.2426C>G
c.9139C>G (p.Gln3047Glu)
c.9361C>G (p.Gln3121Glu)
c.4384C>G (p.Gln1462Glu)
c.2134C>G (p.Gln712Glu)
c.3097C>G (p.Gln1033Glu)
1g.197093207G>TCA344007521ASPMn.2426C>A
c.9139C>A (p.Gln3047Lys)
c.9361C>A (p.Gln3121Lys)
c.4384C>A (p.Gln1462Lys)
c.2134C>A (p.Gln712Lys)
c.3097C>A (p.Gln1033Lys)
1g.197093208C>ACA344007525ASPMn.2425G>T
c.9138G>T (p.Arg3046Ser)
c.9360G>T (p.Arg3120Ser)
c.4383G>T (p.Arg1461Ser)
c.2133G>T (p.Arg711Ser)
c.3096G>T (p.Arg1032Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.197093208C=CA1149121290ASPMn.2425G=
c.9138G= (p.Arg3046=)
c.9360G= (p.Arg3120=)
c.4383G= (p.Arg1461=)
c.2133G= (p.Arg711=)
c.3096G= (p.Arg1032=)
1g.197093208C>GCA344007531ASPMn.2425G>C
c.9138G>C (p.Arg3046Ser)
c.9360G>C (p.Arg3120Ser)
c.4383G>C (p.Arg1461Ser)
c.2133G>C (p.Arg711Ser)
c.3096G>C (p.Arg1032Ser)
1g.197093208C>TCA1309032ASPMn.2425G>A
c.9138G>A (p.Arg3046=)
c.9360G>A (p.Arg3120=)
c.4383G>A (p.Arg1461=)
c.2133G>A (p.Arg711=)
c.3096G>A (p.Arg1032=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197093209C>ACA344007540ASPMn.2424G>T
c.9137G>T (p.Arg3046Met)
c.9359G>T (p.Arg3120Met)
c.4382G>T (p.Arg1461Met)
c.2132G>T (p.Arg711Met)
c.3095G>T (p.Arg1032Met)
1g.197093209C>GCA344007543ASPMn.2424G>C
c.9137G>C (p.Arg3046Thr)
c.9359G>C (p.Arg3120Thr)
c.4382G>C (p.Arg1461Thr)
c.2132G>C (p.Arg711Thr)
c.3095G>C (p.Arg1032Thr)
1g.197093209C>TCA344007547ASPMn.2424G>A
c.9137G>A (p.Arg3046Lys)
c.9359G>A (p.Arg3120Lys)
c.4382G>A (p.Arg1461Lys)
c.2132G>A (p.Arg711Lys)
c.3095G>A (p.Arg1032Lys)
1g.197093210T>ACA344007550ASPMn.2423A>T
c.9136A>T (p.Arg3046Trp)
c.9358A>T (p.Arg3120Trp)
c.4381A>T (p.Arg1461Trp)
c.2131A>T (p.Arg711Trp)
c.3094A>T (p.Arg1032Trp)
1g.197093210T>CCA344007553ASPMn.2423A>G
c.9136A>G (p.Arg3046Gly)
c.9358A>G (p.Arg3120Gly)
c.4381A>G (p.Arg1461Gly)
c.2131A>G (p.Arg711Gly)
c.3094A>G (p.Arg1032Gly)
 gnomAD v4
1g.197093210T>GCA422673207ASPMn.2423A>C
c.9136A>C (p.Arg3046=)
c.9358A>C (p.Arg3120=)
c.4381A>C (p.Arg1461=)
c.2131A>C (p.Arg711=)
c.3094A>C (p.Arg1032=)
1g.197093211T>ACA422673209ASPMn.2422A>T
c.9135A>T (p.Gly3045=)
c.9357A>T (p.Gly3119=)
c.4380A>T (p.Gly1460=)
c.2130A>T (p.Gly710=)
c.3093A>T (p.Gly1031=)
1g.197093211T>CCA422673211ASPMn.2422A>G
c.9135A>G (p.Gly3045=)
c.9357A>G (p.Gly3119=)
c.4380A>G (p.Gly1460=)
c.2130A>G (p.Gly710=)
c.3093A>G (p.Gly1031=)
1g.197093211T>GCA422673213ASPMn.2422A>C
c.9135A>C (p.Gly3045=)
c.9357A>C (p.Gly3119=)
c.4380A>C (p.Gly1460=)
c.2130A>C (p.Gly710=)
c.3093A>C (p.Gly1031=)
1g.197093212C>ACA344007555ASPMn.2421G>T
c.9134G>T (p.Gly3045Val)
c.9356G>T (p.Gly3119Val)
c.4379G>T (p.Gly1460Val)
c.2129G>T (p.Gly710Val)
c.3092G>T (p.Gly1031Val)
1g.197093212C=CA1217926726ASPMn.2421G=
c.9134G= (p.Gly3045=)
c.9356G= (p.Gly3119=)
c.4379G= (p.Gly1460=)
c.2129G= (p.Gly710=)
c.3092G= (p.Gly1031=)
1g.197093212C>GCA344007557ASPMn.2421G>C
c.9134G>C (p.Gly3045Ala)
c.9356G>C (p.Gly3119Ala)
c.4379G>C (p.Gly1460Ala)
c.2129G>C (p.Gly710Ala)
c.3092G>C (p.Gly1031Ala)
1g.197093212C>TCA1309033ASPMn.2421G>A
c.9134G>A (p.Gly3045Glu)
c.9356G>A (p.Gly3119Glu)
c.4379G>A (p.Gly1460Glu)
c.2129G>A (p.Gly710Glu)
c.3092G>A (p.Gly1031Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197093213C>ACA344007562ASPMn.2420G>T
c.9133G>T (p.Gly3045Ter)
c.9355G>T (p.Gly3119Ter)
c.4378G>T (p.Gly1460Ter)
c.2128G>T (p.Gly710Ter)
c.3091G>T (p.Gly1031Ter)
1g.197093213C>GCA344007570ASPMn.2420G>C
c.9133G>C (p.Gly3045Arg)
c.9355G>C (p.Gly3119Arg)
c.4378G>C (p.Gly1460Arg)
c.2128G>C (p.Gly710Arg)
c.3091G>C (p.Gly1031Arg)
 gnomAD v4
1g.197093213C>TCA344007573ASPMn.2420G>A
c.9133G>A (p.Gly3045Arg)
c.9355G>A (p.Gly3119Arg)
c.4378G>A (p.Gly1460Arg)
c.2128G>A (p.Gly710Arg)
c.3091G>A (p.Gly1031Arg)
1g.197093214T>ACA344007575ASPMn.2419A>T
c.9132A>T (p.Lys3044Asn)
c.9354A>T (p.Lys3118Asn)
c.4377A>T (p.Lys1459Asn)
c.2127A>T (p.Lys709Asn)
c.3090A>T (p.Lys1030Asn)
1g.197093214T>CCA422673217ASPMn.2419A>G
c.9132A>G (p.Lys3044=)
c.9354A>G (p.Lys3118=)
c.4377A>G (p.Lys1459=)
c.2127A>G (p.Lys709=)
c.3090A>G (p.Lys1030=)
1g.197093214T>GCA344007577ASPMn.2419A>C
c.9132A>C (p.Lys3044Asn)
c.9354A>C (p.Lys3118Asn)
c.4377A>C (p.Lys1459Asn)
c.2127A>C (p.Lys709Asn)
c.3090A>C (p.Lys1030Asn)
1g.197093215T>ACA344007580ASPMn.2418A>T
c.9131A>T (p.Lys3044Ile)
c.9353A>T (p.Lys3118Ile)
c.4376A>T (p.Lys1459Ile)
c.2126A>T (p.Lys709Ile)
c.3089A>T (p.Lys1030Ile)
1g.197093215T>CCA344007582ASPMn.2418A>G
c.9131A>G (p.Lys3044Arg)
c.9353A>G (p.Lys3118Arg)
c.4376A>G (p.Lys1459Arg)
c.2126A>G (p.Lys709Arg)
c.3089A>G (p.Lys1030Arg)
1g.197093215T>GCA1309034ASPMn.2418A>C
c.9131A>C (p.Lys3044Thr)
c.9353A>C (p.Lys3118Thr)
c.4376A>C (p.Lys1459Thr)
c.2126A>C (p.Lys709Thr)
c.3089A>C (p.Lys1030Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197093215T=CA1144161861ASPMn.2418A=
c.9131A= (p.Lys3044=)
c.9353A= (p.Lys3118=)
c.4376A= (p.Lys1459=)
c.2126A= (p.Lys709=)
c.3089A= (p.Lys1030=)
1g.197093216T>ACA344007589ASPMn.2417A>T
c.9130A>T (p.Lys3044Ter)
c.9352A>T (p.Lys3118Ter)
c.4375A>T (p.Lys1459Ter)
c.2125A>T (p.Lys709Ter)
c.3088A>T (p.Lys1030Ter)
1g.197093216T>CCA344007588ASPMn.2417A>G
c.9130A>G (p.Lys3044Glu)
c.9352A>G (p.Lys3118Glu)
c.4375A>G (p.Lys1459Glu)
c.2125A>G (p.Lys709Glu)
c.3088A>G (p.Lys1030Glu)
1g.197093216T>GCA344007586ASPMn.2417A>C
c.9130A>C (p.Lys3044Gln)
c.9352A>C (p.Lys3118Gln)
c.4375A>C (p.Lys1459Gln)
c.2125A>C (p.Lys709Gln)
c.3088A>C (p.Lys1030Gln)
1g.197093217A>CCA344007594ASPMn.2416T>G
c.9129T>G (p.Tyr3043Ter)
c.9351T>G (p.Tyr3117Ter)
c.4374T>G (p.Tyr1458Ter)
c.2124T>G (p.Tyr708Ter)
c.3087T>G (p.Tyr1029Ter)
1g.197093217A>GCA422673221ASPMn.2416T>C
c.9129T>C (p.Tyr3043=)
c.9351T>C (p.Tyr3117=)
c.4374T>C (p.Tyr1458=)
c.2124T>C (p.Tyr708=)
c.3087T>C (p.Tyr1029=)
1g.197093217A>TCA344007593ASPMn.2416T>A
c.9129T>A (p.Tyr3043Ter)
c.9351T>A (p.Tyr3117Ter)
c.4374T>A (p.Tyr1458Ter)
c.2124T>A (p.Tyr708Ter)
c.3087T>A (p.Tyr1029Ter)
1g.197093218T>ACA344007598ASPMn.2415A>T
c.9128A>T (p.Tyr3043Phe)
c.9350A>T (p.Tyr3117Phe)
c.4373A>T (p.Tyr1458Phe)
c.2123A>T (p.Tyr708Phe)
c.3086A>T (p.Tyr1029Phe)
1g.197093218T>CCA344007600ASPMn.2415A>G
c.9128A>G (p.Tyr3043Cys)
c.9350A>G (p.Tyr3117Cys)
c.4373A>G (p.Tyr1458Cys)
c.2123A>G (p.Tyr708Cys)
c.3086A>G (p.Tyr1029Cys)
 dbSNP
1g.197093218T>GCA344007602ASPMn.2415A>C
c.9128A>C (p.Tyr3043Ser)
c.9350A>C (p.Tyr3117Ser)
c.4373A>C (p.Tyr1458Ser)
c.2123A>C (p.Tyr708Ser)
c.3086A>C (p.Tyr1029Ser)
1g.197093218T=CA1217926727ASPMn.2415A=
c.9128A= (p.Tyr3043=)
c.9350A= (p.Tyr3117=)
c.4373A= (p.Tyr1458=)
c.2123A= (p.Tyr708=)
c.3086A= (p.Tyr1029=)
1g.197093219A>CCA344007616ASPMn.2414T>G
c.9127T>G (p.Tyr3043Asp)
c.9349T>G (p.Tyr3117Asp)
c.4372T>G (p.Tyr1458Asp)
c.2122T>G (p.Tyr708Asp)
c.3085T>G (p.Tyr1029Asp)
1g.197093219A>GCA344007618ASPMn.2414T>C
c.9127T>C (p.Tyr3043His)
c.9349T>C (p.Tyr3117His)
c.4372T>C (p.Tyr1458His)
c.2122T>C (p.Tyr708His)
c.3085T>C (p.Tyr1029His)
1g.197093219A>TCA344007621ASPMn.2414T>A
c.9127T>A (p.Tyr3043Asn)
c.9349T>A (p.Tyr3117Asn)
c.4372T>A (p.Tyr1458Asn)
c.2122T>A (p.Tyr708Asn)
c.3085T>A (p.Tyr1029Asn)
1g.197093220T>ACA422673226ASPMn.2413A>T
c.9126A>T (p.Gly3042=)
c.9348A>T (p.Gly3116=)
c.4371A>T (p.Gly1457=)
c.2121A>T (p.Gly707=)
c.3084A>T (p.Gly1028=)
1g.197093220T>CCA422673227ASPMn.2413A>G
c.9126A>G (p.Gly3042=)
c.9348A>G (p.Gly3116=)
c.4371A>G (p.Gly1457=)
c.2121A>G (p.Gly707=)
c.3084A>G (p.Gly1028=)
1g.197093220T>GCA422673224ASPMn.2413A>C
c.9126A>C (p.Gly3042=)
c.9348A>C (p.Gly3116=)
c.4371A>C (p.Gly1457=)
c.2121A>C (p.Gly707=)
c.3084A>C (p.Gly1028=)
1g.197093221C>ACA344007625ASPMn.2412G>T
c.9125G>T (p.Gly3042Val)
c.9347G>T (p.Gly3116Val)
c.4370G>T (p.Gly1457Val)
c.2120G>T (p.Gly707Val)
c.3083G>T (p.Gly1028Val)
 dbSNP gnomAD v2 gnomAD v4
1g.197093221C=CA1217926728ASPMn.2412G=
c.9125G= (p.Gly3042=)
c.9347G= (p.Gly3116=)
c.4370G= (p.Gly1457=)
c.2120G= (p.Gly707=)
c.3083G= (p.Gly1028=)
1g.197093221C>GCA344007626ASPMn.2412G>C
c.9125G>C (p.Gly3042Ala)
c.9347G>C (p.Gly3116Ala)
c.4370G>C (p.Gly1457Ala)
c.2120G>C (p.Gly707Ala)
c.3083G>C (p.Gly1028Ala)
1g.197093221C>TCA344007628ASPMn.2412G>A
c.9125G>A (p.Gly3042Glu)
c.9347G>A (p.Gly3116Glu)
c.4370G>A (p.Gly1457Glu)
c.2120G>A (p.Gly707Glu)
c.3083G>A (p.Gly1028Glu)
 COSMIC
1g.197093222C>ACA344007631ASPMn.2411G>T
c.9124G>T (p.Gly3042Ter)
c.9346G>T (p.Gly3116Ter)
c.4369G>T (p.Gly1457Ter)
c.2119G>T (p.Gly707Ter)
c.3082G>T (p.Gly1028Ter)
1g.197093222C=CA1217926729ASPMn.2411G=
c.9124G= (p.Gly3042=)
c.9346G= (p.Gly3116=)
c.4369G= (p.Gly1457=)
c.2119G= (p.Gly707=)
c.3082G= (p.Gly1028=)
1g.197093222C>GCA344007633ASPMn.2411G>C
c.9124G>C (p.Gly3042Arg)
c.9346G>C (p.Gly3116Arg)
c.4369G>C (p.Gly1457Arg)
c.2119G>C (p.Gly707Arg)
c.3082G>C (p.Gly1028Arg)
1g.197093222C>TCA344007634ASPMn.2411G>A
c.9124G>A (p.Gly3042Arg)
c.9346G>A (p.Gly3116Arg)
c.4369G>A (p.Gly1457Arg)
c.2119G>A (p.Gly707Arg)
c.3082G>A (p.Gly1028Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197093223T>ACA344007638ASPMn.2410A>T
c.9123A>T (p.Arg3041Ser)
c.9345A>T (p.Arg3115Ser)
c.4368A>T (p.Arg1456Ser)
c.2118A>T (p.Arg706Ser)
c.3081A>T (p.Arg1027Ser)
1g.197093223T>CCA1309035ASPMn.2410A>G
c.9123A>G (p.Arg3041=)
c.9345A>G (p.Arg3115=)
c.4368A>G (p.Arg1456=)
c.2118A>G (p.Arg706=)
c.3081A>G (p.Arg1027=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197093223T>GCA344007641ASPMn.2410A>C
c.9123A>C (p.Arg3041Ser)
c.9345A>C (p.Arg3115Ser)
c.4368A>C (p.Arg1456Ser)
c.2118A>C (p.Arg706Ser)
c.3081A>C (p.Arg1027Ser)
1g.197093223T=CA1148408819ASPMn.2410A=
c.9123A= (p.Arg3041=)
c.9345A= (p.Arg3115=)
c.4368A= (p.Arg1456=)
c.2118A= (p.Arg706=)
c.3081A= (p.Arg1027=)
1g.197093224C>ACA344007646ASPMn.2409G>T
c.9122G>T (p.Arg3041Ile)
c.9344G>T (p.Arg3115Ile)
c.4367G>T (p.Arg1456Ile)
c.2117G>T (p.Arg706Ile)
c.3080G>T (p.Arg1027Ile)
1g.197093224C>GCA344007648ASPMn.2409G>C
c.9122G>C (p.Arg3041Thr)
c.9344G>C (p.Arg3115Thr)
c.4367G>C (p.Arg1456Thr)
c.2117G>C (p.Arg706Thr)
c.3080G>C (p.Arg1027Thr)
1g.197093224C>TCA344007651ASPMn.2409G>A
c.9122G>A (p.Arg3041Lys)
c.9344G>A (p.Arg3115Lys)
c.4367G>A (p.Arg1456Lys)
c.2117G>A (p.Arg706Lys)
c.3080G>A (p.Arg1027Lys)
 gnomAD v4
1g.197093225T>ACA344007653ASPMn.2408A>T
c.9121A>T (p.Arg3041Ter)
c.9343A>T (p.Arg3115Ter)
c.4366A>T (p.Arg1456Ter)
c.2116A>T (p.Arg706Ter)
c.3079A>T (p.Arg1027Ter)
1g.197093225T>CCA344007656ASPMn.2408A>G
c.9121A>G (p.Arg3041Gly)
c.9343A>G (p.Arg3115Gly)
c.4366A>G (p.Arg1456Gly)
c.2116A>G (p.Arg706Gly)
c.3079A>G (p.Arg1027Gly)
1g.197093225T>GCA422673229ASPMn.2408A>C
c.9121A>C (p.Arg3041=)
c.9343A>C (p.Arg3115=)
c.4366A>C (p.Arg1456=)
c.2116A>C (p.Arg706=)
c.3079A>C (p.Arg1027=)
1g.197093226A>CCA344007659ASPMn.2407T>G
c.9120T>G (p.Tyr3040Ter)
c.9342T>G (p.Tyr3114Ter)
c.4365T>G (p.Tyr1455Ter)
c.2115T>G (p.Tyr705Ter)
c.3078T>G (p.Tyr1026Ter)
1g.197093226A>GCA422673232ASPMn.2407T>C
c.9120T>C (p.Tyr3040=)
c.9342T>C (p.Tyr3114=)
c.4365T>C (p.Tyr1455=)
c.2115T>C (p.Tyr705=)
c.3078T>C (p.Tyr1026=)
1g.197093226A>TCA344007661ASPMn.2407T>A
c.9120T>A (p.Tyr3040Ter)
c.9342T>A (p.Tyr3114Ter)
c.4365T>A (p.Tyr1455Ter)
c.2115T>A (p.Tyr705Ter)
c.3078T>A (p.Tyr1026Ter)
1g.197093227T>ACA344007665ASPMn.2406A>T
c.9119A>T (p.Tyr3040Phe)
c.9341A>T (p.Tyr3114Phe)
c.4364A>T (p.Tyr1455Phe)
c.2114A>T (p.Tyr705Phe)
c.3077A>T (p.Tyr1026Phe)
1g.197093227T>CCA344007667ASPMn.2406A>G
c.9119A>G (p.Tyr3040Cys)
c.9341A>G (p.Tyr3114Cys)
c.4364A>G (p.Tyr1455Cys)
c.2114A>G (p.Tyr705Cys)
c.3077A>G (p.Tyr1026Cys)
1g.197093227T>GCA344007670ASPMn.2406A>C
c.9119A>C (p.Tyr3040Ser)
c.9341A>C (p.Tyr3114Ser)
c.4364A>C (p.Tyr1455Ser)
c.2114A>C (p.Tyr705Ser)
c.3077A>C (p.Tyr1026Ser)
1g.197093227T=CA1217926730ASPMn.2406A=
c.9119A= (p.Tyr3040=)
c.9341A= (p.Tyr3114=)
c.4364A= (p.Tyr1455=)
c.2114A= (p.Tyr705=)
c.3077A= (p.Tyr1026=)
1g.197093228A>CCA344007682ASPMn.2405T>G
c.9118T>G (p.Tyr3040Asp)
c.9340T>G (p.Tyr3114Asp)
c.4363T>G (p.Tyr1455Asp)
c.2113T>G (p.Tyr705Asp)
c.3076T>G (p.Tyr1026Asp)
 ClinVar dbSNP
1g.197093228A>GCA344007675ASPMn.2405T>C
c.9118T>C (p.Tyr3040His)
c.9340T>C (p.Tyr3114His)
c.4363T>C (p.Tyr1455His)
c.2113T>C (p.Tyr705His)
c.3076T>C (p.Tyr1026His)
1g.197093228A>TCA344007678ASPMn.2405T>A
c.9118T>A (p.Tyr3040Asn)
c.9340T>A (p.Tyr3114Asn)
c.4363T>A (p.Tyr1455Asn)
c.2113T>A (p.Tyr705Asn)
c.3076T>A (p.Tyr1026Asn)
1g.197093228_197093231delinsAATGCA1143355796ASPMn.2402_2405delinsCATT
c.9115_9118delinsCATT (p.His3039=)
c.9337_9340delinsCATT (p.His3113=)
c.4360_4363delinsCATT (p.His1454=)
c.2110_2113delinsCATT (p.His704=)
c.3073_3076delinsCATT (p.His1025=)
1g.197093228_197093231dupCA342288ASPMn.2402_2405dup
c.9115_9118dup (p.Tyr3040SerfsTer3)
c.9337_9340dup (p.Tyr3114SerfsTer3)
c.4360_4363dup (p.Tyr1455SerfsTer3)
c.2110_2113dup (p.Tyr705SerfsTer3)
c.3073_3076dup (p.Tyr1026SerfsTer3)
 ClinVar dbSNP
1g.197093229A>CCA344007687ASPMn.2404T>G
c.9117T>G (p.His3039Gln)
c.9339T>G (p.His3113Gln)
c.4362T>G (p.His1454Gln)
c.2112T>G (p.His704Gln)
c.3075T>G (p.His1025Gln)
1g.197093229A>GCA422673235ASPMn.2404T>C
c.9117T>C (p.His3039=)
c.9339T>C (p.His3113=)
c.4362T>C (p.His1454=)
c.2112T>C (p.His704=)
c.3075T>C (p.His1025=)
 gnomAD v4
1g.197093229A>TCA344007685ASPMn.2404T>A
c.9117T>A (p.His3039Gln)
c.9339T>A (p.His3113Gln)
c.4362T>A (p.His1454Gln)
c.2112T>A (p.His704Gln)
c.3075T>A (p.His1025Gln)
1g.197093230T>ACA344007689ASPMn.2403A>T
c.9116A>T (p.His3039Leu)
c.9338A>T (p.His3113Leu)
c.4361A>T (p.His1454Leu)
c.2111A>T (p.His704Leu)
c.3074A>T (p.His1025Leu)
 dbSNP
1g.197093230T>CCA344007691ASPMn.2403A>G
c.9116A>G (p.His3039Arg)
c.9338A>G (p.His3113Arg)
c.4361A>G (p.His1454Arg)
c.2111A>G (p.His704Arg)
c.3074A>G (p.His1025Arg)
 gnomAD v4
1g.197093230T>GCA344007693ASPMn.2403A>C
c.9116A>C (p.His3039Pro)
c.9338A>C (p.His3113Pro)
c.4361A>C (p.His1454Pro)
c.2111A>C (p.His704Pro)
c.3074A>C (p.His1025Pro)
1g.197093230T=CA1217926731ASPMn.2403A=
c.9116A= (p.His3039=)
c.9338A= (p.His3113=)
c.4361A= (p.His1454=)
c.2111A= (p.His704=)
c.3074A= (p.His1025=)
1g.197093231G>ACA344007697ASPMn.2402C>T
c.9115C>T (p.His3039Tyr)
c.9337C>T (p.His3113Tyr)
c.4360C>T (p.His1454Tyr)
c.2110C>T (p.His704Tyr)
c.3073C>T (p.His1025Tyr)
 gnomAD v4
1g.197093231G>CCA344007698ASPMn.2402C>G
c.9115C>G (p.His3039Asp)
c.9337C>G (p.His3113Asp)
c.4360C>G (p.His1454Asp)
c.2110C>G (p.His704Asp)
c.3073C>G (p.His1025Asp)
 ClinVar gnomAD v4
1g.197093231G>TCA344007700ASPMn.2402C>A
c.9115C>A (p.His3039Asn)
c.9337C>A (p.His3113Asn)
c.4360C>A (p.His1454Asn)
c.2110C>A (p.His704Asn)
c.3073C>A (p.His1025Asn)
1g.197093232T>ACA422673237ASPMn.2401A>T
c.9114A>T (p.Ala3038=)
c.9336A>T (p.Ala3112=)
c.4359A>T (p.Ala1453=)
c.2109A>T (p.Ala703=)
c.3072A>T (p.Ala1024=)
1g.197093232T>CCA422673238ASPMn.2401A>G
c.9114A>G (p.Ala3038=)
c.9336A>G (p.Ala3112=)
c.4359A>G (p.Ala1453=)
c.2109A>G (p.Ala703=)
c.3072A>G (p.Ala1024=)
1g.197093232T>GCA422673239ASPMn.2401A>C
c.9114A>C (p.Ala3038=)
c.9336A>C (p.Ala3112=)
c.4359A>C (p.Ala1453=)
c.2109A>C (p.Ala703=)
c.3072A>C (p.Ala1024=)
1g.197093233G>ACA344007704ASPMn.2400C>T
c.9113C>T (p.Ala3038Val)
c.9335C>T (p.Ala3112Val)
c.4358C>T (p.Ala1453Val)
c.2108C>T (p.Ala703Val)
c.3071C>T (p.Ala1024Val)
 dbSNP gnomAD v2 gnomAD v4
1g.197093233G>CCA344007706ASPMn.2400C>G
c.9113C>G (p.Ala3038Gly)
c.9335C>G (p.Ala3112Gly)
c.4358C>G (p.Ala1453Gly)
c.2108C>G (p.Ala703Gly)
c.3071C>G (p.Ala1024Gly)
1g.197093233G=CA1217926732ASPMn.2400C=
c.9113C= (p.Ala3038=)
c.9335C= (p.Ala3112=)
c.4358C= (p.Ala1453=)
c.2108C= (p.Ala703=)
c.3071C= (p.Ala1024=)
1g.197093233G>TCA344007709ASPMn.2400C>A
c.9113C>A (p.Ala3038Glu)
c.9335C>A (p.Ala3112Glu)
c.4358C>A (p.Ala1453Glu)
c.2108C>A (p.Ala703Glu)
c.3071C>A (p.Ala1024Glu)
1g.197093234C>ACA344007713ASPMn.2399G>T
c.9112G>T (p.Ala3038Ser)
c.9334G>T (p.Ala3112Ser)
c.4357G>T (p.Ala1453Ser)
c.2107G>T (p.Ala703Ser)
c.3070G>T (p.Ala1024Ser)
1g.197093234C>GCA344007715ASPMn.2399G>C
c.9112G>C (p.Ala3038Pro)
c.9334G>C (p.Ala3112Pro)
c.4357G>C (p.Ala1453Pro)
c.2107G>C (p.Ala703Pro)
c.3070G>C (p.Ala1024Pro)
1g.197093234C>TCA344007717ASPMn.2399G>A
c.9112G>A (p.Ala3038Thr)
c.9334G>A (p.Ala3112Thr)
c.4357G>A (p.Ala1453Thr)
c.2107G>A (p.Ala703Thr)
c.3070G>A (p.Ala1024Thr)
1g.197093235T>ACA344007720ASPMn.2398A>T
c.9111A>T (p.Gln3037His)
c.9333A>T (p.Gln3111His)
c.4356A>T (p.Gln1452His)
c.2106A>T (p.Gln702His)
c.3069A>T (p.Gln1023His)
1g.197093235T>CCA422673241ASPMn.2398A>G
c.9111A>G (p.Gln3037=)
c.9333A>G (p.Gln3111=)
c.4356A>G (p.Gln1452=)
c.2106A>G (p.Gln702=)
c.3069A>G (p.Gln1023=)
1g.197093235T>GCA344007722ASPMn.2398A>C
c.9111A>C (p.Gln3037His)
c.9333A>C (p.Gln3111His)
c.4356A>C (p.Gln1452His)
c.2106A>C (p.Gln702His)
c.3069A>C (p.Gln1023His)
1g.197093236T>ACA344007726ASPMn.2397A>T
c.9110A>T (p.Gln3037Leu)
c.9332A>T (p.Gln3111Leu)
c.4355A>T (p.Gln1452Leu)
c.2105A>T (p.Gln702Leu)
c.3068A>T (p.Gln1023Leu)
1g.197093236T>CCA344007728ASPMn.2397A>G
c.9110A>G (p.Gln3037Arg)
c.9332A>G (p.Gln3111Arg)
c.4355A>G (p.Gln1452Arg)
c.2105A>G (p.Gln702Arg)
c.3068A>G (p.Gln1023Arg)
1g.197093236T>GCA344007730ASPMn.2397A>C
c.9110A>C (p.Gln3037Pro)
c.9332A>C (p.Gln3111Pro)
c.4355A>C (p.Gln1452Pro)
c.2105A>C (p.Gln702Pro)
c.3068A>C (p.Gln1023Pro)
 gnomAD v4
1g.197093237G>ACA344007734ASPMn.2396C>T
c.9109C>T (p.Gln3037Ter)
c.9331C>T (p.Gln3111Ter)
c.4354C>T (p.Gln1452Ter)
c.2104C>T (p.Gln702Ter)
c.3067C>T (p.Gln1023Ter)
1g.197093237G>CCA344007735ASPMn.2396C>G
c.9109C>G (p.Gln3037Glu)
c.9331C>G (p.Gln3111Glu)
c.4354C>G (p.Gln1452Glu)
c.2104C>G (p.Gln702Glu)
c.3067C>G (p.Gln1023Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.197093237G=CA1217926733ASPMn.2396C=
c.9109C= (p.Gln3037=)
c.9331C= (p.Gln3111=)
c.4354C= (p.Gln1452=)
c.2104C= (p.Gln702=)
c.3067C= (p.Gln1023=)
1g.197093237G>TCA344007737ASPMn.2396C>A
c.9109C>A (p.Gln3037Lys)
c.9331C>A (p.Gln3111Lys)
c.4354C>A (p.Gln1452Lys)
c.2104C>A (p.Gln702Lys)
c.3067C>A (p.Gln1023Lys)
1g.197093238delCA2573051450ASPMn.2396del
c.9109del (p.Gln3037LysfsTer21)
c.9331del (p.Gln3111LysfsTer21)
c.4354del (p.Gln1452LysfsTer21)
c.2104del (p.Gln702LysfsTer21)
c.3067del (p.Gln1023LysfsTer21)
 ClinVar dbSNP

Number of alleles fetched