Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197090036C>ACA344000993ASPMn.3165G>T
c.9878G>T (p.Ser3293Ile)
c.10100G>T (p.Ser3367Ile)
c.9854G>T (p.Ser3285Ile)
c.5123G>T (p.Ser1708Ile)
c.2873G>T (p.Ser958Ile)
c.3836G>T (p.Ser1279Ile)
1g.197090036C=CA1149059955ASPMn.3165G=
c.9878G= (p.Ser3293=)
c.10100G= (p.Ser3367=)
c.9854G= (p.Ser3285=)
c.5123G= (p.Ser1708=)
c.2873G= (p.Ser958=)
c.3836G= (p.Ser1279=)
1g.197090036C>GCA344000996ASPMn.3165G>C
c.9878G>C (p.Ser3293Thr)
c.10100G>C (p.Ser3367Thr)
c.9854G>C (p.Ser3285Thr)
c.5123G>C (p.Ser1708Thr)
c.2873G>C (p.Ser958Thr)
c.3836G>C (p.Ser1279Thr)
1g.197090036C>TCA35861791ASPMn.3165G>A
c.9878G>A (p.Ser3293Asn)
c.10100G>A (p.Ser3367Asn)
c.9854G>A (p.Ser3285Asn)
c.5123G>A (p.Ser1708Asn)
c.2873G>A (p.Ser958Asn)
c.3836G>A (p.Ser1279Asn)
 dbSNP gnomAD v4
1g.197090037T>ACA344001002ASPMn.3164A>T
c.9877A>T (p.Ser3293Cys)
c.10099A>T (p.Ser3367Cys)
c.9853A>T (p.Ser3285Cys)
c.5122A>T (p.Ser1708Cys)
c.2872A>T (p.Ser958Cys)
c.3835A>T (p.Ser1279Cys)
1g.197090037T>CCA344001005ASPMn.3164A>G
c.9877A>G (p.Ser3293Gly)
c.10099A>G (p.Ser3367Gly)
c.9853A>G (p.Ser3285Gly)
c.5122A>G (p.Ser1708Gly)
c.2872A>G (p.Ser958Gly)
c.3835A>G (p.Ser1279Gly)
1g.197090037T>GCA344001008ASPMn.3164A>C
c.9877A>C (p.Ser3293Arg)
c.10099A>C (p.Ser3367Arg)
c.9853A>C (p.Ser3285Arg)
c.5122A>C (p.Ser1708Arg)
c.2872A>C (p.Ser958Arg)
c.3835A>C (p.Ser1279Arg)
1g.197090038C>ACA344001011ASPMn.3163G>T
c.9876G>T (p.Gln3292His)
c.10098G>T (p.Gln3366His)
c.9852G>T (p.Gln3284His)
c.5121G>T (p.Gln1707His)
c.2871G>T (p.Gln957His)
c.3834G>T (p.Gln1278His)
 gnomAD v4
1g.197090038C=CA1143543541ASPMn.3163G=
c.9876G= (p.Gln3292=)
c.10098G= (p.Gln3366=)
c.9852G= (p.Gln3284=)
c.5121G= (p.Gln1707=)
c.2871G= (p.Gln957=)
c.3834G= (p.Gln1278=)
1g.197090038C>GCA344001012ASPMn.3163G>C
c.9876G>C (p.Gln3292His)
c.10098G>C (p.Gln3366His)
c.9852G>C (p.Gln3284His)
c.5121G>C (p.Gln1707His)
c.2871G>C (p.Gln957His)
c.3834G>C (p.Gln1278His)
1g.197090038C>TCA1308831ASPMn.3163G>A
c.9876G>A (p.Gln3292=)
c.10098G>A (p.Gln3366=)
c.9852G>A (p.Gln3284=)
c.5121G>A (p.Gln1707=)
c.2871G>A (p.Gln957=)
c.3834G>A (p.Gln1278=)
 dbSNP ExAC gnomAD v2
1g.197090039T>ACA344001017ASPMn.3162A>T
c.9875A>T (p.Gln3292Leu)
c.10097A>T (p.Gln3366Leu)
c.9851A>T (p.Gln3284Leu)
c.5120A>T (p.Gln1707Leu)
c.2870A>T (p.Gln957Leu)
c.3833A>T (p.Gln1278Leu)
1g.197090039T>CCA1308832ASPMn.3162A>G
c.9875A>G (p.Gln3292Arg)
c.10097A>G (p.Gln3366Arg)
c.9851A>G (p.Gln3284Arg)
c.5120A>G (p.Gln1707Arg)
c.2870A>G (p.Gln957Arg)
c.3833A>G (p.Gln1278Arg)
 dbSNP ExAC
1g.197090039T>GCA344001021ASPMn.3162A>C
c.9875A>C (p.Gln3292Pro)
c.10097A>C (p.Gln3366Pro)
c.9851A>C (p.Gln3284Pro)
c.5120A>C (p.Gln1707Pro)
c.2870A>C (p.Gln957Pro)
c.3833A>C (p.Gln1278Pro)
1g.197090039T=CA1143788235ASPMn.3162A=
c.9875A= (p.Gln3292=)
c.10097A= (p.Gln3366=)
c.9851A= (p.Gln3284=)
c.5120A= (p.Gln1707=)
c.2870A= (p.Gln957=)
c.3833A= (p.Gln1278=)
1g.197090040G>ACA344001035ASPMn.3161C>T
c.9874C>T (p.Gln3292Ter)
c.10096C>T (p.Gln3366Ter)
c.9850C>T (p.Gln3284Ter)
c.5119C>T (p.Gln1707Ter)
c.2869C>T (p.Gln957Ter)
c.3832C>T (p.Gln1278Ter)
 ClinVar dbSNP gnomAD v4
1g.197090040G>CCA344001032ASPMn.3161C>G
c.9874C>G (p.Gln3292Glu)
c.10096C>G (p.Gln3366Glu)
c.9850C>G (p.Gln3284Glu)
c.5119C>G (p.Gln1707Glu)
c.2869C>G (p.Gln957Glu)
c.3832C>G (p.Gln1278Glu)
1g.197090040G>TCA344001025ASPMn.3161C>A
c.9874C>A (p.Gln3292Lys)
c.10096C>A (p.Gln3366Lys)
c.9850C>A (p.Gln3284Lys)
c.5119C>A (p.Gln1707Lys)
c.2869C>A (p.Gln957Lys)
c.3832C>A (p.Gln1278Lys)
1g.197090041G>ACA422805254ASPMn.3160C>T
c.9873C>T (p.Ala3291=)
c.10095C>T (p.Ala3365=)
c.9849C>T (p.Ala3283=)
c.5118C>T (p.Ala1706=)
c.2868C>T (p.Ala956=)
c.3831C>T (p.Ala1277=)
1g.197090041G>CCA422805255ASPMn.3160C>G
c.9873C>G (p.Ala3291=)
c.10095C>G (p.Ala3365=)
c.9849C>G (p.Ala3283=)
c.5118C>G (p.Ala1706=)
c.2868C>G (p.Ala956=)
c.3831C>G (p.Ala1277=)
1g.197090041G>TCA422805256ASPMn.3160C>A
c.9873C>A (p.Ala3291=)
c.10095C>A (p.Ala3365=)
c.9849C>A (p.Ala3283=)
c.5118C>A (p.Ala1706=)
c.2868C>A (p.Ala956=)
c.3831C>A (p.Ala1277=)
1g.197090042G>ACA344001036ASPMn.3159C>T
c.9872C>T (p.Ala3291Val)
c.10094C>T (p.Ala3365Val)
c.9848C>T (p.Ala3283Val)
c.5117C>T (p.Ala1706Val)
c.2867C>T (p.Ala956Val)
c.3830C>T (p.Ala1277Val)
1g.197090042G>CCA344001038ASPMn.3159C>G
c.9872C>G (p.Ala3291Gly)
c.10094C>G (p.Ala3365Gly)
c.9848C>G (p.Ala3283Gly)
c.5117C>G (p.Ala1706Gly)
c.2867C>G (p.Ala956Gly)
c.3830C>G (p.Ala1277Gly)
1g.197090042G>TCA344001037ASPMn.3159C>A
c.9872C>A (p.Ala3291Asp)
c.10094C>A (p.Ala3365Asp)
c.9848C>A (p.Ala3283Asp)
c.5117C>A (p.Ala1706Asp)
c.2867C>A (p.Ala956Asp)
c.3830C>A (p.Ala1277Asp)
 gnomAD v4
1g.197090043C>ACA344001041ASPMn.3158G>T
c.9871G>T (p.Ala3291Ser)
c.10093G>T (p.Ala3365Ser)
c.9847G>T (p.Ala3283Ser)
c.5116G>T (p.Ala1706Ser)
c.2866G>T (p.Ala956Ser)
c.3829G>T (p.Ala1277Ser)
 COSMIC
1g.197090043C=CA1217924944ASPMn.3158G=
c.9871G= (p.Ala3291=)
c.10093G= (p.Ala3365=)
c.9847G= (p.Ala3283=)
c.5116G= (p.Ala1706=)
c.2866G= (p.Ala956=)
c.3829G= (p.Ala1277=)
1g.197090043C>GCA344001046ASPMn.3158G>C
c.9871G>C (p.Ala3291Pro)
c.10093G>C (p.Ala3365Pro)
c.9847G>C (p.Ala3283Pro)
c.5116G>C (p.Ala1706Pro)
c.2866G>C (p.Ala956Pro)
c.3829G>C (p.Ala1277Pro)
1g.197090043C>TCA344001048ASPMn.3158G>A
c.9871G>A (p.Ala3291Thr)
c.10093G>A (p.Ala3365Thr)
c.9847G>A (p.Ala3283Thr)
c.5116G>A (p.Ala1706Thr)
c.2866G>A (p.Ala956Thr)
c.3829G>A (p.Ala1277Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.197090044C>ACA344001051ASPMn.3157G>T
c.9870G>T (p.Met3290Ile)
c.10092G>T (p.Met3364Ile)
c.9846G>T (p.Met3282Ile)
c.5115G>T (p.Met1705Ile)
c.2865G>T (p.Met955Ile)
c.3828G>T (p.Met1276Ile)
1g.197090044C>GCA344001059ASPMn.3157G>C
c.9870G>C (p.Met3290Ile)
c.10092G>C (p.Met3364Ile)
c.9846G>C (p.Met3282Ile)
c.5115G>C (p.Met1705Ile)
c.2865G>C (p.Met955Ile)
c.3828G>C (p.Met1276Ile)
1g.197090044C>TCA344001067ASPMn.3157G>A
c.9870G>A (p.Met3290Ile)
c.10092G>A (p.Met3364Ile)
c.9846G>A (p.Met3282Ile)
c.5115G>A (p.Met1705Ile)
c.2865G>A (p.Met955Ile)
c.3828G>A (p.Met1276Ile)
1g.197090045A=CA1217924946ASPMn.3156T=
c.9869T= (p.Met3290=)
c.10091T= (p.Met3364=)
c.9845T= (p.Met3282=)
c.5114T= (p.Met1705=)
c.2864T= (p.Met955=)
c.3827T= (p.Met1276=)
1g.197090045A>CCA344001071ASPMn.3156T>G
c.9869T>G (p.Met3290Arg)
c.10091T>G (p.Met3364Arg)
c.9845T>G (p.Met3282Arg)
c.5114T>G (p.Met1705Arg)
c.2864T>G (p.Met955Arg)
c.3827T>G (p.Met1276Arg)
 dbSNP gnomAD v4
1g.197090045A>GCA344001073ASPMn.3156T>C
c.9869T>C (p.Met3290Thr)
c.10091T>C (p.Met3364Thr)
c.9845T>C (p.Met3282Thr)
c.5114T>C (p.Met1705Thr)
c.2864T>C (p.Met955Thr)
c.3827T>C (p.Met1276Thr)
 dbSNP
1g.197090045A>TCA344001075ASPMn.3156T>A
c.9869T>A (p.Met3290Lys)
c.10091T>A (p.Met3364Lys)
c.9845T>A (p.Met3282Lys)
c.5114T>A (p.Met1705Lys)
c.2864T>A (p.Met955Lys)
c.3827T>A (p.Met1276Lys)
1g.197090046T>ACA344001078ASPMn.3155A>T
c.9868A>T (p.Met3290Leu)
c.10090A>T (p.Met3364Leu)
c.9844A>T (p.Met3282Leu)
c.5113A>T (p.Met1705Leu)
c.2863A>T (p.Met955Leu)
c.3826A>T (p.Met1276Leu)
1g.197090046T>CCA344001079ASPMn.3155A>G
c.9868A>G (p.Met3290Val)
c.10090A>G (p.Met3364Val)
c.9844A>G (p.Met3282Val)
c.5113A>G (p.Met1705Val)
c.2863A>G (p.Met955Val)
c.3826A>G (p.Met1276Val)
 gnomAD v4
1g.197090046T>GCA344001080ASPMn.3155A>C
c.9868A>C (p.Met3290Leu)
c.10090A>C (p.Met3364Leu)
c.9844A>C (p.Met3282Leu)
c.5113A>C (p.Met1705Leu)
c.2863A>C (p.Met955Leu)
c.3826A>C (p.Met1276Leu)
1g.197090047G>ACA422805270ASPMn.3154C>T
c.9867C>T (p.Asn3289=)
c.10089C>T (p.Asn3363=)
c.9843C>T (p.Asn3281=)
c.5112C>T (p.Asn1704=)
c.2862C>T (p.Asn954=)
c.3825C>T (p.Asn1275=)
1g.197090047G>CCA344001081ASPMn.3154C>G
c.9867C>G (p.Asn3289Lys)
c.10089C>G (p.Asn3363Lys)
c.9843C>G (p.Asn3281Lys)
c.5112C>G (p.Asn1704Lys)
c.2862C>G (p.Asn954Lys)
c.3825C>G (p.Asn1275Lys)
1g.197090047G>TCA344001082ASPMn.3154C>A
c.9867C>A (p.Asn3289Lys)
c.10089C>A (p.Asn3363Lys)
c.9843C>A (p.Asn3281Lys)
c.5112C>A (p.Asn1704Lys)
c.2862C>A (p.Asn954Lys)
c.3825C>A (p.Asn1275Lys)
1g.197090048T>ACA344001084ASPMn.3153A>T
c.9866A>T (p.Asn3289Ile)
c.10088A>T (p.Asn3363Ile)
c.9842A>T (p.Asn3281Ile)
c.5111A>T (p.Asn1704Ile)
c.2861A>T (p.Asn954Ile)
c.3824A>T (p.Asn1275Ile)
 dbSNP
1g.197090048T>CCA35861800ASPMn.3153A>G
c.9866A>G (p.Asn3289Ser)
c.10088A>G (p.Asn3363Ser)
c.9842A>G (p.Asn3281Ser)
c.5111A>G (p.Asn1704Ser)
c.2861A>G (p.Asn954Ser)
c.3824A>G (p.Asn1275Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.197090048T>GCA344001089ASPMn.3153A>C
c.9866A>C (p.Asn3289Thr)
c.10088A>C (p.Asn3363Thr)
c.9842A>C (p.Asn3281Thr)
c.5111A>C (p.Asn1704Thr)
c.2861A>C (p.Asn954Thr)
c.3824A>C (p.Asn1275Thr)
1g.197090048T=CA1217924954ASPMn.3153A=
c.9866A= (p.Asn3289=)
c.10088A= (p.Asn3363=)
c.9842A= (p.Asn3281=)
c.5111A= (p.Asn1704=)
c.2861A= (p.Asn954=)
c.3824A= (p.Asn1275=)
1g.197090049T>ACA344001093ASPMn.3152A>T
c.9865A>T (p.Asn3289Tyr)
c.10087A>T (p.Asn3363Tyr)
c.9841A>T (p.Asn3281Tyr)
c.5110A>T (p.Asn1704Tyr)
c.2860A>T (p.Asn954Tyr)
c.3823A>T (p.Asn1275Tyr)
1g.197090049T>CCA344001096ASPMn.3152A>G
c.9865A>G (p.Asn3289Asp)
c.10087A>G (p.Asn3363Asp)
c.9841A>G (p.Asn3281Asp)
c.5110A>G (p.Asn1704Asp)
c.2860A>G (p.Asn954Asp)
c.3823A>G (p.Asn1275Asp)
1g.197090049T>GCA344001106ASPMn.3152A>C
c.9865A>C (p.Asn3289His)
c.10087A>C (p.Asn3363His)
c.9841A>C (p.Asn3281His)
c.5110A>C (p.Asn1704His)
c.2860A>C (p.Asn954His)
c.3823A>C (p.Asn1275His)
1g.197090050C>ACA344001110ASPMn.3151G>T
c.9864G>T (p.Glu3288Asp)
c.10086G>T (p.Glu3362Asp)
c.9840G>T (p.Glu3280Asp)
c.5109G>T (p.Glu1703Asp)
c.2859G>T (p.Glu953Asp)
c.3822G>T (p.Glu1274Asp)
1g.197090050C>GCA344001112ASPMn.3151G>C
c.9864G>C (p.Glu3288Asp)
c.10086G>C (p.Glu3362Asp)
c.9840G>C (p.Glu3280Asp)
c.5109G>C (p.Glu1703Asp)
c.2859G>C (p.Glu953Asp)
c.3822G>C (p.Glu1274Asp)
1g.197090050C>TCA422804979ASPMn.3151G>A
c.9864G>A (p.Glu3288=)
c.10086G>A (p.Glu3362=)
c.9840G>A (p.Glu3280=)
c.5109G>A (p.Glu1703=)
c.2859G>A (p.Glu953=)
c.3822G>A (p.Glu1274=)
1g.197090051T>ACA344001117ASPMn.3150A>T
c.9863A>T (p.Glu3288Val)
c.10085A>T (p.Glu3362Val)
c.9839A>T (p.Glu3280Val)
c.5108A>T (p.Glu1703Val)
c.2858A>T (p.Glu953Val)
c.3821A>T (p.Glu1274Val)
1g.197090051T>CCA344001121ASPMn.3150A>G
c.9863A>G (p.Glu3288Gly)
c.10085A>G (p.Glu3362Gly)
c.9839A>G (p.Glu3280Gly)
c.5108A>G (p.Glu1703Gly)
c.2858A>G (p.Glu953Gly)
c.3821A>G (p.Glu1274Gly)
1g.197090051T>GCA344001123ASPMn.3150A>C
c.9863A>C (p.Glu3288Ala)
c.10085A>C (p.Glu3362Ala)
c.9839A>C (p.Glu3280Ala)
c.5108A>C (p.Glu1703Ala)
c.2858A>C (p.Glu953Ala)
c.3821A>C (p.Glu1274Ala)
1g.197090052C>ACA344001126ASPMn.3149G>T
c.9862G>T (p.Glu3288Ter)
c.10084G>T (p.Glu3362Ter)
c.9838G>T (p.Glu3280Ter)
c.5107G>T (p.Glu1703Ter)
c.2857G>T (p.Glu953Ter)
c.3820G>T (p.Glu1274Ter)
1g.197090052C>GCA344001127ASPMn.3149G>C
c.9862G>C (p.Glu3288Gln)
c.10084G>C (p.Glu3362Gln)
c.9838G>C (p.Glu3280Gln)
c.5107G>C (p.Glu1703Gln)
c.2857G>C (p.Glu953Gln)
c.3820G>C (p.Glu1274Gln)
1g.197090052C>TCA344001125ASPMn.3149G>A
c.9862G>A (p.Glu3288Lys)
c.10084G>A (p.Glu3362Lys)
c.9838G>A (p.Glu3280Lys)
c.5107G>A (p.Glu1703Lys)
c.2857G>A (p.Glu953Lys)
c.3820G>A (p.Glu1274Lys)
1g.197090053A>CCA344001129ASPMn.3148T>G
c.9861T>G (p.Cys3287Trp)
c.10083T>G (p.Cys3361Trp)
c.9837T>G (p.Cys3279Trp)
c.5106T>G (p.Cys1702Trp)
c.2856T>G (p.Cys952Trp)
c.3819T>G (p.Cys1273Trp)
1g.197090053A>GCA422804981ASPMn.3148T>C
c.9861T>C (p.Cys3287=)
c.10083T>C (p.Cys3361=)
c.9837T>C (p.Cys3279=)
c.5106T>C (p.Cys1702=)
c.2856T>C (p.Cys952=)
c.3819T>C (p.Cys1273=)
1g.197090053A>TCA344001133ASPMn.3148T>A
c.9861T>A (p.Cys3287Ter)
c.10083T>A (p.Cys3361Ter)
c.9837T>A (p.Cys3279Ter)
c.5106T>A (p.Cys1702Ter)
c.2856T>A (p.Cys952Ter)
c.3819T>A (p.Cys1273Ter)
 gnomAD v4
1g.197090054C>ACA344001135ASPMn.3147G>T
c.9860G>T (p.Cys3287Phe)
c.10082G>T (p.Cys3361Phe)
c.9836G>T (p.Cys3279Phe)
c.5105G>T (p.Cys1702Phe)
c.2855G>T (p.Cys952Phe)
c.3818G>T (p.Cys1273Phe)
 dbSNP gnomAD v3 gnomAD v4
1g.197090054C=CA1217924958ASPMn.3147G=
c.9860G= (p.Cys3287=)
c.10082G= (p.Cys3361=)
c.9836G= (p.Cys3279=)
c.5105G= (p.Cys1702=)
c.2855G= (p.Cys952=)
c.3818G= (p.Cys1273=)
1g.197090054C>GCA344001138ASPMn.3147G>C
c.9860G>C (p.Cys3287Ser)
c.10082G>C (p.Cys3361Ser)
c.9836G>C (p.Cys3279Ser)
c.5105G>C (p.Cys1702Ser)
c.2855G>C (p.Cys952Ser)
c.3818G>C (p.Cys1273Ser)
1g.197090054C>TCA344001145ASPMn.3147G>A
c.9860G>A (p.Cys3287Tyr)
c.10082G>A (p.Cys3361Tyr)
c.9836G>A (p.Cys3279Tyr)
c.5105G>A (p.Cys1702Tyr)
c.2855G>A (p.Cys952Tyr)
c.3818G>A (p.Cys1273Tyr)
 COSMIC
1g.197090055A>CCA344001148ASPMn.3146T>G
c.9859T>G (p.Cys3287Gly)
c.10081T>G (p.Cys3361Gly)
c.9835T>G (p.Cys3279Gly)
c.5104T>G (p.Cys1702Gly)
c.2854T>G (p.Cys952Gly)
c.3817T>G (p.Cys1273Gly)
1g.197090055A>GCA344001151ASPMn.3146T>C
c.9859T>C (p.Cys3287Arg)
c.10081T>C (p.Cys3361Arg)
c.9835T>C (p.Cys3279Arg)
c.5104T>C (p.Cys1702Arg)
c.2854T>C (p.Cys952Arg)
c.3817T>C (p.Cys1273Arg)
1g.197090055A>TCA344001154ASPMn.3146T>A
c.9859T>A (p.Cys3287Ser)
c.10081T>A (p.Cys3361Ser)
c.9835T>A (p.Cys3279Ser)
c.5104T>A (p.Cys1702Ser)
c.2854T>A (p.Cys952Ser)
c.3817T>A (p.Cys1273Ser)
1g.197090056A>CCA344001157ASPMn.3145T>G
c.9858T>G (p.Cys3286Trp)
c.10080T>G (p.Cys3360Trp)
c.9834T>G (p.Cys3278Trp)
c.5103T>G (p.Cys1701Trp)
c.2853T>G (p.Cys951Trp)
c.3816T>G (p.Cys1272Trp)
1g.197090056A>GCA422804986ASPMn.3145T>C
c.9858T>C (p.Cys3286=)
c.10080T>C (p.Cys3360=)
c.9834T>C (p.Cys3278=)
c.5103T>C (p.Cys1701=)
c.2853T>C (p.Cys951=)
c.3816T>C (p.Cys1272=)
1g.197090056A>TCA344001158ASPMn.3145T>A
c.9858T>A (p.Cys3286Ter)
c.10080T>A (p.Cys3360Ter)
c.9834T>A (p.Cys3278Ter)
c.5103T>A (p.Cys1701Ter)
c.2853T>A (p.Cys951Ter)
c.3816T>A (p.Cys1272Ter)
1g.197090057C>ACA344001162ASPMn.3144G>T
c.9857G>T (p.Cys3286Phe)
c.10079G>T (p.Cys3360Phe)
c.9833G>T (p.Cys3278Phe)
c.5102G>T (p.Cys1701Phe)
c.2852G>T (p.Cys951Phe)
c.3815G>T (p.Cys1272Phe)
 gnomAD v3 gnomAD v4
1g.197090057C>GCA344001171ASPMn.3144G>C
c.9857G>C (p.Cys3286Ser)
c.10079G>C (p.Cys3360Ser)
c.9833G>C (p.Cys3278Ser)
c.5102G>C (p.Cys1701Ser)
c.2852G>C (p.Cys951Ser)
c.3815G>C (p.Cys1272Ser)
1g.197090057C>TCA344001172ASPMn.3144G>A
c.9857G>A (p.Cys3286Tyr)
c.10079G>A (p.Cys3360Tyr)
c.9833G>A (p.Cys3278Tyr)
c.5102G>A (p.Cys1701Tyr)
c.2852G>A (p.Cys951Tyr)
c.3815G>A (p.Cys1272Tyr)
1g.197090058A>CCA344001185ASPMn.3143T>G
c.9856T>G (p.Cys3286Gly)
c.10078T>G (p.Cys3360Gly)
c.9832T>G (p.Cys3278Gly)
c.5101T>G (p.Cys1701Gly)
c.2851T>G (p.Cys951Gly)
c.3814T>G (p.Cys1272Gly)
1g.197090058A>GCA344001183ASPMn.3143T>C
c.9856T>C (p.Cys3286Arg)
c.10078T>C (p.Cys3360Arg)
c.9832T>C (p.Cys3278Arg)
c.5101T>C (p.Cys1701Arg)
c.2851T>C (p.Cys951Arg)
c.3814T>C (p.Cys1272Arg)
1g.197090058A>TCA344001179ASPMn.3143T>A
c.9856T>A (p.Cys3286Ser)
c.10078T>A (p.Cys3360Ser)
c.9832T>A (p.Cys3278Ser)
c.5101T>A (p.Cys1701Ser)
c.2851T>A (p.Cys951Ser)
c.3814T>A (p.Cys1272Ser)
1g.197090059A>CCA422804988ASPMn.3142T>G
c.9855T>G (p.Leu3285=)
c.10077T>G (p.Leu3359=)
c.9831T>G (p.Leu3277=)
c.5100T>G (p.Leu1700=)
c.2850T>G (p.Leu950=)
c.3813T>G (p.Leu1271=)
1g.197090059A>GCA422804989ASPMn.3142T>C
c.9855T>C (p.Leu3285=)
c.10077T>C (p.Leu3359=)
c.9831T>C (p.Leu3277=)
c.5100T>C (p.Leu1700=)
c.2850T>C (p.Leu950=)
c.3813T>C (p.Leu1271=)
1g.197090059A>TCA422804990ASPMn.3142T>A
c.9855T>A (p.Leu3285=)
c.10077T>A (p.Leu3359=)
c.9831T>A (p.Leu3277=)
c.5100T>A (p.Leu1700=)
c.2850T>A (p.Leu950=)
c.3813T>A (p.Leu1271=)
1g.197090060A>CCA344001191ASPMn.3141T>G
c.9854T>G (p.Leu3285Arg)
c.10076T>G (p.Leu3359Arg)
c.9830T>G (p.Leu3277Arg)
c.5099T>G (p.Leu1700Arg)
c.2849T>G (p.Leu950Arg)
c.3812T>G (p.Leu1271Arg)
1g.197090060A>GCA344001194ASPMn.3141T>C
c.9854T>C (p.Leu3285Pro)
c.10076T>C (p.Leu3359Pro)
c.9830T>C (p.Leu3277Pro)
c.5099T>C (p.Leu1700Pro)
c.2849T>C (p.Leu950Pro)
c.3812T>C (p.Leu1271Pro)
1g.197090060A>TCA344001197ASPMn.3141T>A
c.9854T>A (p.Leu3285His)
c.10076T>A (p.Leu3359His)
c.9830T>A (p.Leu3277His)
c.5099T>A (p.Leu1700His)
c.2849T>A (p.Leu950His)
c.3812T>A (p.Leu1271His)
1g.197090061G>ACA344001200ASPMn.3140C>T
c.9853C>T (p.Leu3285Phe)
c.10075C>T (p.Leu3359Phe)
c.9829C>T (p.Leu3277Phe)
c.5098C>T (p.Leu1700Phe)
c.2848C>T (p.Leu950Phe)
c.3811C>T (p.Leu1271Phe)
 gnomAD v4
1g.197090061G>CCA344001203ASPMn.3140C>G
c.9853C>G (p.Leu3285Val)
c.10075C>G (p.Leu3359Val)
c.9829C>G (p.Leu3277Val)
c.5098C>G (p.Leu1700Val)
c.2848C>G (p.Leu950Val)
c.3811C>G (p.Leu1271Val)
1g.197090061G>TCA344001205ASPMn.3140C>A
c.9853C>A (p.Leu3285Ile)
c.10075C>A (p.Leu3359Ile)
c.9829C>A (p.Leu3277Ile)
c.5098C>A (p.Leu1700Ile)
c.2848C>A (p.Leu950Ile)
c.3811C>A (p.Leu1271Ile)
1g.197090062T>ACA422804994ASPMn.3139A>T
c.9852A>T (p.Pro3284=)
c.10074A>T (p.Pro3358=)
c.9828A>T (p.Pro3276=)
c.5097A>T (p.Pro1699=)
c.2847A>T (p.Pro949=)
c.3810A>T (p.Pro1270=)
1g.197090062T>CCA422804996ASPMn.3139A>G
c.9852A>G (p.Pro3284=)
c.10074A>G (p.Pro3358=)
c.9828A>G (p.Pro3276=)
c.5097A>G (p.Pro1699=)
c.2847A>G (p.Pro949=)
c.3810A>G (p.Pro1270=)
 dbSNP
1g.197090062T>GCA422804995ASPMn.3139A>C
c.9852A>C (p.Pro3284=)
c.10074A>C (p.Pro3358=)
c.9828A>C (p.Pro3276=)
c.5097A>C (p.Pro1699=)
c.2847A>C (p.Pro949=)
c.3810A>C (p.Pro1270=)
1g.197090062T=CA1217924959ASPMn.3139A=
c.9852A= (p.Pro3284=)
c.10074A= (p.Pro3358=)
c.9828A= (p.Pro3276=)
c.5097A= (p.Pro1699=)
c.2847A= (p.Pro949=)
c.3810A= (p.Pro1270=)
1g.197090063G>ACA344001211ASPMn.3138C>T
c.9851C>T (p.Pro3284Leu)
c.10073C>T (p.Pro3358Leu)
c.9827C>T (p.Pro3276Leu)
c.5096C>T (p.Pro1699Leu)
c.2846C>T (p.Pro949Leu)
c.3809C>T (p.Pro1270Leu)
1g.197090063G>CCA344001214ASPMn.3138C>G
c.9851C>G (p.Pro3284Arg)
c.10073C>G (p.Pro3358Arg)
c.9827C>G (p.Pro3276Arg)
c.5096C>G (p.Pro1699Arg)
c.2846C>G (p.Pro949Arg)
c.3809C>G (p.Pro1270Arg)
1g.197090063G>TCA344001217ASPMn.3138C>A
c.9851C>A (p.Pro3284Gln)
c.10073C>A (p.Pro3358Gln)
c.9827C>A (p.Pro3276Gln)
c.5096C>A (p.Pro1699Gln)
c.2846C>A (p.Pro949Gln)
c.3809C>A (p.Pro1270Gln)
1g.197090064G>ACA344001220ASPMn.3137C>T
c.9850C>T (p.Pro3284Ser)
c.10072C>T (p.Pro3358Ser)
c.9826C>T (p.Pro3276Ser)
c.5095C>T (p.Pro1699Ser)
c.2845C>T (p.Pro949Ser)
c.3808C>T (p.Pro1270Ser)
1g.197090064G>CCA344001222ASPMn.3137C>G
c.9850C>G (p.Pro3284Ala)
c.10072C>G (p.Pro3358Ala)
c.9826C>G (p.Pro3276Ala)
c.5095C>G (p.Pro1699Ala)
c.2845C>G (p.Pro949Ala)
c.3808C>G (p.Pro1270Ala)
1g.197090064G>TCA344001225ASPMn.3137C>A
c.9850C>A (p.Pro3284Thr)
c.10072C>A (p.Pro3358Thr)
c.9826C>A (p.Pro3276Thr)
c.5095C>A (p.Pro1699Thr)
c.2845C>A (p.Pro949Thr)
c.3808C>A (p.Pro1270Thr)
1g.197090065A>CCA422804998ASPMn.3136T>G
c.9849T>G (p.Ser3283=)
c.10071T>G (p.Ser3357=)
c.9825T>G (p.Ser3275=)
c.5094T>G (p.Ser1698=)
c.2844T>G (p.Ser948=)
c.3807T>G (p.Ser1269=)
1g.197090065A>GCA422804999ASPMn.3136T>C
c.9849T>C (p.Ser3283=)
c.10071T>C (p.Ser3357=)
c.9825T>C (p.Ser3275=)
c.5094T>C (p.Ser1698=)
c.2844T>C (p.Ser948=)
c.3807T>C (p.Ser1269=)
 gnomAD v4 COSMIC
1g.197090065A>TCA422805000ASPMn.3136T>A
c.9849T>A (p.Ser3283=)
c.10071T>A (p.Ser3357=)
c.9825T>A (p.Ser3275=)
c.5094T>A (p.Ser1698=)
c.2844T>A (p.Ser948=)
c.3807T>A (p.Ser1269=)
1g.197090066G>ACA35861807ASPMn.3135C>T
c.9848C>T (p.Ser3283Phe)
c.10070C>T (p.Ser3357Phe)
c.9824C>T (p.Ser3275Phe)
c.5093C>T (p.Ser1698Phe)
c.2843C>T (p.Ser948Phe)
c.3806C>T (p.Ser1269Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.197090066G>CCA344001233ASPMn.3135C>G
c.9848C>G (p.Ser3283Cys)
c.10070C>G (p.Ser3357Cys)
c.9824C>G (p.Ser3275Cys)
c.5093C>G (p.Ser1698Cys)
c.2843C>G (p.Ser948Cys)
c.3806C>G (p.Ser1269Cys)
1g.197090066G=CA1217924960ASPMn.3135C=
c.9848C= (p.Ser3283=)
c.10070C= (p.Ser3357=)
c.9824C= (p.Ser3275=)
c.5093C= (p.Ser1698=)
c.2843C= (p.Ser948=)
c.3806C= (p.Ser1269=)
1g.197090066G>TCA344001229ASPMn.3135C>A
c.9848C>A (p.Ser3283Tyr)
c.10070C>A (p.Ser3357Tyr)
c.9824C>A (p.Ser3275Tyr)
c.5093C>A (p.Ser1698Tyr)
c.2843C>A (p.Ser948Tyr)
c.3806C>A (p.Ser1269Tyr)
1g.197090067A=CA1217924963ASPMn.3134T=
c.9847T= (p.Ser3283=)
c.10069T= (p.Ser3357=)
c.9823T= (p.Ser3275=)
c.5092T= (p.Ser1698=)
c.2842T= (p.Ser948=)
c.3805T= (p.Ser1269=)
1g.197090067A>CCA344001240ASPMn.3134T>G
c.9847T>G (p.Ser3283Ala)
c.10069T>G (p.Ser3357Ala)
c.9823T>G (p.Ser3275Ala)
c.5092T>G (p.Ser1698Ala)
c.2842T>G (p.Ser948Ala)
c.3805T>G (p.Ser1269Ala)
1g.197090067A>GCA344001246ASPMn.3134T>C
c.9847T>C (p.Ser3283Pro)
c.10069T>C (p.Ser3357Pro)
c.9823T>C (p.Ser3275Pro)
c.5092T>C (p.Ser1698Pro)
c.2842T>C (p.Ser948Pro)
c.3805T>C (p.Ser1269Pro)
 dbSNP
1g.197090067A>TCA344001244ASPMn.3134T>A
c.9847T>A (p.Ser3283Thr)
c.10069T>A (p.Ser3357Thr)
c.9823T>A (p.Ser3275Thr)
c.5092T>A (p.Ser1698Thr)
c.2842T>A (p.Ser948Thr)
c.3805T>A (p.Ser1269Thr)
1g.197090068C>ACA344001250ASPMn.3133G>T
c.9846G>T (p.Leu3282Phe)
c.10068G>T (p.Leu3356Phe)
c.9822G>T (p.Leu3274Phe)
c.5091G>T (p.Leu1697Phe)
c.2841G>T (p.Leu947Phe)
c.3804G>T (p.Leu1268Phe)
 gnomAD v4
1g.197090068C=CA1217924965ASPMn.3133G=
c.9846G= (p.Leu3282=)
c.10068G= (p.Leu3356=)
c.9822G= (p.Leu3274=)
c.5091G= (p.Leu1697=)
c.2841G= (p.Leu947=)
c.3804G= (p.Leu1268=)
1g.197090068C>GCA1308833ASPMn.3133G>C
c.9846G>C (p.Leu3282Phe)
c.10068G>C (p.Leu3356Phe)
c.9822G>C (p.Leu3274Phe)
c.5091G>C (p.Leu1697Phe)
c.2841G>C (p.Leu947Phe)
c.3804G>C (p.Leu1268Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090068C>TCA422805003ASPMn.3133G>A
c.9846G>A (p.Leu3282=)
c.10068G>A (p.Leu3356=)
c.9822G>A (p.Leu3274=)
c.5091G>A (p.Leu1697=)
c.2841G>A (p.Leu947=)
c.3804G>A (p.Leu1268=)
 gnomAD v4
1g.197090069A>CCA344001257ASPMn.3132T>G
c.9845T>G (p.Leu3282Trp)
c.10067T>G (p.Leu3356Trp)
c.9821T>G (p.Leu3274Trp)
c.5090T>G (p.Leu1697Trp)
c.2840T>G (p.Leu947Trp)
c.3803T>G (p.Leu1268Trp)
1g.197090069A>GCA344001261ASPMn.3132T>C
c.9845T>C (p.Leu3282Ser)
c.10067T>C (p.Leu3356Ser)
c.9821T>C (p.Leu3274Ser)
c.5090T>C (p.Leu1697Ser)
c.2840T>C (p.Leu947Ser)
c.3803T>C (p.Leu1268Ser)
1g.197090069A>TCA344001264ASPMn.3132T>A
c.9845T>A (p.Leu3282Ter)
c.10067T>A (p.Leu3356Ter)
c.9821T>A (p.Leu3274Ter)
c.5090T>A (p.Leu1697Ter)
c.2840T>A (p.Leu947Ter)
c.3803T>A (p.Leu1268Ter)
1g.197090070A>CCA344001268ASPMn.3131T>G
c.9844T>G (p.Leu3282Val)
c.10066T>G (p.Leu3356Val)
c.9820T>G (p.Leu3274Val)
c.5089T>G (p.Leu1697Val)
c.2839T>G (p.Leu947Val)
c.3802T>G (p.Leu1268Val)
1g.197090070A>GCA422805006ASPMn.3131T>C
c.9844T>C (p.Leu3282=)
c.10066T>C (p.Leu3356=)
c.9820T>C (p.Leu3274=)
c.5089T>C (p.Leu1697=)
c.2839T>C (p.Leu947=)
c.3802T>C (p.Leu1268=)
1g.197090070A>TCA344001274ASPMn.3131T>A
c.9844T>A (p.Leu3282Met)
c.10066T>A (p.Leu3356Met)
c.9820T>A (p.Leu3274Met)
c.5089T>A (p.Leu1697Met)
c.2839T>A (p.Leu947Met)
c.3802T>A (p.Leu1268Met)
1g.197090071T>ACA344001278ASPMn.3130A>T
c.9843A>T (p.Arg3281Ser)
c.10065A>T (p.Arg3355Ser)
c.9819A>T (p.Arg3273Ser)
c.5088A>T (p.Arg1696Ser)
c.2838A>T (p.Arg946Ser)
c.3801A>T (p.Arg1267Ser)
1g.197090071T>CCA422805007ASPMn.3130A>G
c.9843A>G (p.Arg3281=)
c.10065A>G (p.Arg3355=)
c.9819A>G (p.Arg3273=)
c.5088A>G (p.Arg1696=)
c.2838A>G (p.Arg946=)
c.3801A>G (p.Arg1267=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197090071T>GCA344001281ASPMn.3130A>C
c.9843A>C (p.Arg3281Ser)
c.10065A>C (p.Arg3355Ser)
c.9819A>C (p.Arg3273Ser)
c.5088A>C (p.Arg1696Ser)
c.2838A>C (p.Arg946Ser)
c.3801A>C (p.Arg1267Ser)
1g.197090071T=CA1217924968ASPMn.3130A=
c.9843A= (p.Arg3281=)
c.10065A= (p.Arg3355=)
c.9819A= (p.Arg3273=)
c.5088A= (p.Arg1696=)
c.2838A= (p.Arg946=)
c.3801A= (p.Arg1267=)
1g.197090072C>ACA344001285ASPMn.3129G>T
c.9842G>T (p.Arg3281Ile)
c.10064G>T (p.Arg3355Ile)
c.9818G>T (p.Arg3273Ile)
c.5087G>T (p.Arg1696Ile)
c.2837G>T (p.Arg946Ile)
c.3800G>T (p.Arg1267Ile)
1g.197090072C>GCA344001288ASPMn.3129G>C
c.9842G>C (p.Arg3281Thr)
c.10064G>C (p.Arg3355Thr)
c.9818G>C (p.Arg3273Thr)
c.5087G>C (p.Arg1696Thr)
c.2837G>C (p.Arg946Thr)
c.3800G>C (p.Arg1267Thr)
 gnomAD v4
1g.197090072C>TCA344001291ASPMn.3129G>A
c.9842G>A (p.Arg3281Lys)
c.10064G>A (p.Arg3355Lys)
c.9818G>A (p.Arg3273Lys)
c.5087G>A (p.Arg1696Lys)
c.2837G>A (p.Arg946Lys)
c.3800G>A (p.Arg1267Lys)
 gnomAD v4 COSMIC
1g.197090073T>ACA342315ASPMn.3128A>T
c.9841A>T (p.Arg3281Ter)
c.10063A>T (p.Arg3355Ter)
c.9817A>T (p.Arg3273Ter)
c.5086A>T (p.Arg1696Ter)
c.2836A>T (p.Arg946Ter)
c.3799A>T (p.Arg1267Ter)
 ClinVar dbSNP
1g.197090073T>CCA344001293ASPMn.3128A>G
c.9841A>G (p.Arg3281Gly)
c.10063A>G (p.Arg3355Gly)
c.9817A>G (p.Arg3273Gly)
c.5086A>G (p.Arg1696Gly)
c.2836A>G (p.Arg946Gly)
c.3799A>G (p.Arg1267Gly)
 dbSNP
1g.197090073T>GCA422805011ASPMn.3128A>C
c.9841A>C (p.Arg3281=)
c.10063A>C (p.Arg3355=)
c.9817A>C (p.Arg3273=)
c.5086A>C (p.Arg1696=)
c.2836A>C (p.Arg946=)
c.3799A>C (p.Arg1267=)
1g.197090073T=CA1143355781ASPMn.3128A=
c.9841A= (p.Arg3281=)
c.10063A= (p.Arg3355=)
c.9817A= (p.Arg3273=)
c.5086A= (p.Arg1696=)
c.2836A= (p.Arg946=)
c.3799A= (p.Arg1267=)
1g.197090074A>CCA422805012ASPMn.3127T>G
c.9840T>G (p.Thr3280=)
c.10062T>G (p.Thr3354=)
c.9816T>G (p.Thr3272=)
c.5085T>G (p.Thr1695=)
c.2835T>G (p.Thr945=)
c.3798T>G (p.Thr1266=)
1g.197090074A>GCA422805013ASPMn.3127T>C
c.9840T>C (p.Thr3280=)
c.10062T>C (p.Thr3354=)
c.9816T>C (p.Thr3272=)
c.5085T>C (p.Thr1695=)
c.2835T>C (p.Thr945=)
c.3798T>C (p.Thr1266=)
1g.197090074A>TCA422805014ASPMn.3127T>A
c.9840T>A (p.Thr3280=)
c.10062T>A (p.Thr3354=)
c.9816T>A (p.Thr3272=)
c.5085T>A (p.Thr1695=)
c.2835T>A (p.Thr945=)
c.3798T>A (p.Thr1266=)
1g.197090075delCA2649660599ASPMn.3126del
c.9839del (p.Thr3280IlefsTer23)
c.10061del (p.Thr3354IlefsTer23)
c.9815del (p.Thr3272IlefsTer23)
c.5084del (p.Thr1695IlefsTer23)
c.2834del (p.Thr945IlefsTer23)
c.3797del (p.Thr1266IlefsTer23)
 gnomAD v4
1g.197090075G>ACA344001298ASPMn.3126C>T
c.9839C>T (p.Thr3280Ile)
c.10061C>T (p.Thr3354Ile)
c.9815C>T (p.Thr3272Ile)
c.5084C>T (p.Thr1695Ile)
c.2834C>T (p.Thr945Ile)
c.3797C>T (p.Thr1266Ile)
1g.197090075G>CCA344001304ASPMn.3126C>G
c.9839C>G (p.Thr3280Ser)
c.10061C>G (p.Thr3354Ser)
c.9815C>G (p.Thr3272Ser)
c.5084C>G (p.Thr1695Ser)
c.2834C>G (p.Thr945Ser)
c.3797C>G (p.Thr1266Ser)
1g.197090075G>TCA344001301ASPMn.3126C>A
c.9839C>A (p.Thr3280Asn)
c.10061C>A (p.Thr3354Asn)
c.9815C>A (p.Thr3272Asn)
c.5084C>A (p.Thr1695Asn)
c.2834C>A (p.Thr945Asn)
c.3797C>A (p.Thr1266Asn)
1g.197090076T>ACA344001309ASPMn.3125A>T
c.9838A>T (p.Thr3280Ser)
c.10060A>T (p.Thr3354Ser)
c.9814A>T (p.Thr3272Ser)
c.5083A>T (p.Thr1695Ser)
c.2833A>T (p.Thr945Ser)
c.3796A>T (p.Thr1266Ser)
1g.197090076T>CCA344001314ASPMn.3125A>G
c.9838A>G (p.Thr3280Ala)
c.10060A>G (p.Thr3354Ala)
c.9814A>G (p.Thr3272Ala)
c.5083A>G (p.Thr1695Ala)
c.2833A>G (p.Thr945Ala)
c.3796A>G (p.Thr1266Ala)
 gnomAD v4
1g.197090076T>GCA344001317ASPMn.3125A>C
c.9838A>C (p.Thr3280Pro)
c.10060A>C (p.Thr3354Pro)
c.9814A>C (p.Thr3272Pro)
c.5083A>C (p.Thr1695Pro)
c.2833A>C (p.Thr945Pro)
c.3796A>C (p.Thr1266Pro)
1g.197090077A>CCA422805019ASPMn.3124T>G
c.9837T>G (p.Val3279=)
c.10059T>G (p.Val3353=)
c.9813T>G (p.Val3271=)
c.5082T>G (p.Val1694=)
c.2832T>G (p.Val944=)
c.3795T>G (p.Val1265=)
1g.197090077A>GCA422805020ASPMn.3124T>C
c.9837T>C (p.Val3279=)
c.10059T>C (p.Val3353=)
c.9813T>C (p.Val3271=)
c.5082T>C (p.Val1694=)
c.2832T>C (p.Val944=)
c.3795T>C (p.Val1265=)
1g.197090077A>TCA422805021ASPMn.3124T>A
c.9837T>A (p.Val3279=)
c.10059T>A (p.Val3353=)
c.9813T>A (p.Val3271=)
c.5082T>A (p.Val1694=)
c.2832T>A (p.Val944=)
c.3795T>A (p.Val1265=)
1g.197090078A>CCA344001320ASPMn.3123T>G
c.9836T>G (p.Val3279Gly)
c.10058T>G (p.Val3353Gly)
c.9812T>G (p.Val3271Gly)
c.5081T>G (p.Val1694Gly)
c.2831T>G (p.Val944Gly)
c.3794T>G (p.Val1265Gly)
1g.197090078A>GCA344001324ASPMn.3123T>C
c.9836T>C (p.Val3279Ala)
c.10058T>C (p.Val3353Ala)
c.9812T>C (p.Val3271Ala)
c.5081T>C (p.Val1694Ala)
c.2831T>C (p.Val944Ala)
c.3794T>C (p.Val1265Ala)
1g.197090078A>TCA344001328ASPMn.3123T>A
c.9836T>A (p.Val3279Asp)
c.10058T>A (p.Val3353Asp)
c.9812T>A (p.Val3271Asp)
c.5081T>A (p.Val1694Asp)
c.2831T>A (p.Val944Asp)
c.3794T>A (p.Val1265Asp)
1g.197090079C>ACA344001332ASPMn.3122G>T
c.9835G>T (p.Val3279Phe)
c.10057G>T (p.Val3353Phe)
c.9811G>T (p.Val3271Phe)
c.5080G>T (p.Val1694Phe)
c.2830G>T (p.Val944Phe)
c.3793G>T (p.Val1265Phe)
1g.197090079C>GCA344001336ASPMn.3122G>C
c.9835G>C (p.Val3279Leu)
c.10057G>C (p.Val3353Leu)
c.9811G>C (p.Val3271Leu)
c.5080G>C (p.Val1694Leu)
c.2830G>C (p.Val944Leu)
c.3793G>C (p.Val1265Leu)
1g.197090079C>TCA344001339ASPMn.3122G>A
c.9835G>A (p.Val3279Ile)
c.10057G>A (p.Val3353Ile)
c.9811G>A (p.Val3271Ile)
c.5080G>A (p.Val1694Ile)
c.2830G>A (p.Val944Ile)
c.3793G>A (p.Val1265Ile)
1g.197090080T>ACA422805022ASPMn.3121A>T
c.9834A>T (p.Val3278=)
c.10056A>T (p.Val3352=)
c.9810A>T (p.Val3270=)
c.5079A>T (p.Val1693=)
c.2829A>T (p.Val943=)
c.3792A>T (p.Val1264=)
1g.197090080T>CCA1308834ASPMn.3121A>G
c.9834A>G (p.Val3278=)
c.10056A>G (p.Val3352=)
c.9810A>G (p.Val3270=)
c.5079A>G (p.Val1693=)
c.2829A>G (p.Val943=)
c.3792A>G (p.Val1264=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090080T>GCA422805024ASPMn.3121A>C
c.9834A>C (p.Val3278=)
c.10056A>C (p.Val3352=)
c.9810A>C (p.Val3270=)
c.5079A>C (p.Val1693=)
c.2829A>C (p.Val943=)
c.3792A>C (p.Val1264=)
1g.197090080T=CA1143459069ASPMn.3121A=
c.9834A= (p.Val3278=)
c.10056A= (p.Val3352=)
c.9810A= (p.Val3270=)
c.5079A= (p.Val1693=)
c.2829A= (p.Val943=)
c.3792A= (p.Val1264=)
1g.197090081A=CA1141799803ASPMn.3120T=
c.9833T= (p.Val3278=)
c.10055T= (p.Val3352=)
c.9809T= (p.Val3270=)
c.5078T= (p.Val1693=)
c.2828T= (p.Val943=)
c.3791T= (p.Val1264=)
1g.197090081A>CCA344001352ASPMn.3120T>G
c.9833T>G (p.Val3278Gly)
c.10055T>G (p.Val3352Gly)
c.9809T>G (p.Val3270Gly)
c.5078T>G (p.Val1693Gly)
c.2828T>G (p.Val943Gly)
c.3791T>G (p.Val1264Gly)
1g.197090081A>GCA1308835ASPMn.3120T>C
c.9833T>C (p.Val3278Ala)
c.10055T>C (p.Val3352Ala)
c.9809T>C (p.Val3270Ala)
c.5078T>C (p.Val1693Ala)
c.2828T>C (p.Val943Ala)
c.3791T>C (p.Val1264Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090081A>TCA344001344ASPMn.3120T>A
c.9833T>A (p.Val3278Glu)
c.10055T>A (p.Val3352Glu)
c.9809T>A (p.Val3270Glu)
c.5078T>A (p.Val1693Glu)
c.2828T>A (p.Val943Glu)
c.3791T>A (p.Val1264Glu)
1g.197090082C>ACA344001358ASPMn.3119G>T
c.9832G>T (p.Val3278Leu)
c.10054G>T (p.Val3352Leu)
c.9808G>T (p.Val3270Leu)
c.5077G>T (p.Val1693Leu)
c.2827G>T (p.Val943Leu)
c.3790G>T (p.Val1264Leu)
1g.197090082C=CA1144644408ASPMn.3119G=
c.9832G= (p.Val3278=)
c.10054G= (p.Val3352=)
c.9808G= (p.Val3270=)
c.5077G= (p.Val1693=)
c.2827G= (p.Val943=)
c.3790G= (p.Val1264=)
1g.197090082C>GCA344001361ASPMn.3119G>C
c.9832G>C (p.Val3278Leu)
c.10054G>C (p.Val3352Leu)
c.9808G>C (p.Val3270Leu)
c.5077G>C (p.Val1693Leu)
c.2827G>C (p.Val943Leu)
c.3790G>C (p.Val1264Leu)
1g.197090082C>TCA1308836ASPMn.3119G>A
c.9832G>A (p.Val3278Ile)
c.10054G>A (p.Val3352Ile)
c.9808G>A (p.Val3270Ile)
c.5077G>A (p.Val1693Ile)
c.2827G>A (p.Val943Ile)
c.3790G>A (p.Val1264Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090083C>ACA344001365ASPMn.3118G>T
c.9831G>T (p.Glu3277Asp)
c.10053G>T (p.Glu3351Asp)
c.9807G>T (p.Glu3269Asp)
c.5076G>T (p.Glu1692Asp)
c.2826G>T (p.Glu942Asp)
c.3789G>T (p.Glu1263Asp)
1g.197090083C>GCA344001371ASPMn.3118G>C
c.9831G>C (p.Glu3277Asp)
c.10053G>C (p.Glu3351Asp)
c.9807G>C (p.Glu3269Asp)
c.5076G>C (p.Glu1692Asp)
c.2826G>C (p.Glu942Asp)
c.3789G>C (p.Glu1263Asp)
1g.197090083C>TCA422805031ASPMn.3118G>A
c.9831G>A (p.Glu3277=)
c.10053G>A (p.Glu3351=)
c.9807G>A (p.Glu3269=)
c.5076G>A (p.Glu1692=)
c.2826G>A (p.Glu942=)
c.3789G>A (p.Glu1263=)
 gnomAD v4 COSMIC
1g.197090083_197090087delCA2747239566ASPMn.3117-3_3118del
c.9830-3_9831del
c.10052-3_10053del
c.9806-3_9807del
c.5075-3_5076del
c.2825-3_2826del
c.3788-3_3789del
1g.197090084T>ACA344001377ASPMn.3117A>T
c.9830A>T (p.Glu3277Val)
c.10052A>T (p.Glu3351Val)
c.9806A>T (p.Glu3269Val)
c.5075A>T (p.Glu1692Val)
c.2825A>T (p.Glu942Val)
c.3788A>T (p.Glu1263Val)
 dbSNP gnomAD v2 gnomAD v4
1g.197090084T>CCA344001380ASPMn.3117A>G
c.9830A>G (p.Glu3277Gly)
c.10052A>G (p.Glu3351Gly)
c.9806A>G (p.Glu3269Gly)
c.5075A>G (p.Glu1692Gly)
c.2825A>G (p.Glu942Gly)
c.3788A>G (p.Glu1263Gly)
 gnomAD v4
1g.197090084T>GCA344001383ASPMn.3117A>C
c.9830A>C (p.Glu3277Ala)
c.10052A>C (p.Glu3351Ala)
c.9806A>C (p.Glu3269Ala)
c.5075A>C (p.Glu1692Ala)
c.2825A>C (p.Glu942Ala)
c.3788A>C (p.Glu1263Ala)
1g.197090084T=CA1217924986ASPMn.3117A=
c.9830A= (p.Glu3277=)
c.10052A= (p.Glu3351=)
c.9806A= (p.Glu3269=)
c.5075A= (p.Glu1692=)
c.2825A= (p.Glu942=)
c.3788A= (p.Glu1263=)
1g.197090085C>ACA344001386ASPMn.3117-1G>T
c.9830-1G>T (n.9830-1G>T)
c.10052-1G>T (n.10052-1G>T)
c.9806-1G>T (n.9806-1G>T)
c.5075-1G>T (n.5075-1G>T)
c.2825-1G>T (n.2825-1G>T)
c.3788-1G>T (n.3788-1G>T)
1g.197090085C>GCA344001388ASPMn.3117-1G>C
c.9830-1G>C (n.9830-1G>C)
c.10052-1G>C (n.10052-1G>C)
c.9806-1G>C (n.9806-1G>C)
c.5075-1G>C (n.5075-1G>C)
c.2825-1G>C (n.2825-1G>C)
c.3788-1G>C (n.3788-1G>C)
1g.197090085C>TCA344001392ASPMn.3117-1G>A
c.9830-1G>A (n.9830-1G>A)
c.10052-1G>A (n.10052-1G>A)
c.9806-1G>A (n.9806-1G>A)
c.5075-1G>A (n.5075-1G>A)
c.2825-1G>A (n.2825-1G>A)
c.3788-1G>A (n.3788-1G>A)
1g.197090087_197090197delCA2747239567ASPMn.3116+1_3117-1del
c.9829+1_9830-1del
c.10051+1_10052-1del
c.9805+1_9806-1del
c.5074+1_5075-1del
c.2824+1_2825-1del
c.3787+1_3788-1del
1g.197090086T>ACA344001396ASPMn.3117-2A>T
c.9830-2A>T (n.9830-2A>T)
c.10052-2A>T (n.10052-2A>T)
c.9806-2A>T (n.9806-2A>T)
c.5075-2A>T (n.5075-2A>T)
c.2825-2A>T (n.2825-2A>T)
c.3788-2A>T (n.3788-2A>T)
 gnomAD v3 gnomAD v4
1g.197090086T>CCA344001398ASPMn.3117-2A>G
c.9830-2A>G (n.9830-2A>G)
c.10052-2A>G (n.10052-2A>G)
c.9806-2A>G (n.9806-2A>G)
c.5075-2A>G (n.5075-2A>G)
c.2825-2A>G (n.2825-2A>G)
c.3788-2A>G (n.3788-2A>G)
1g.197090086T>GCA344001403ASPMn.3117-2A>C
c.9830-2A>C (n.9830-2A>C)
c.10052-2A>C (n.10052-2A>C)
c.9806-2A>C (n.9806-2A>C)
c.5075-2A>C (n.5075-2A>C)
c.2825-2A>C (n.2825-2A>C)
c.3788-2A>C (n.3788-2A>C)
1g.197090087G>ACA1010898190ASPMn.3117-3C>T
c.9830-3C>T (n.9830-3C>T)
c.10052-3C>T (n.10052-3C>T)
c.9806-3C>T (n.9806-3C>T)
c.5075-3C>T (n.5075-3C>T)
c.2825-3C>T (n.2825-3C>T)
c.3788-3C>T (n.3788-3C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.197090087G=CA1148305377ASPMn.3117-3C=
c.9830-3C= (n.9830-3C=)
c.10052-3C= (n.10052-3C=)
c.9806-3C= (n.9806-3C=)
c.5075-3C= (n.5075-3C=)
c.2825-3C= (n.2825-3C=)
c.3788-3C= (n.3788-3C=)
1g.197090087G>TCA1308837ASPMn.3117-3C>A
c.9830-3C>A (n.9830-3C>A)
c.10052-3C>A (n.10052-3C>A)
c.9806-3C>A (n.9806-3C>A)
c.5075-3C>A (n.5075-3C>A)
c.2825-3C>A (n.2825-3C>A)
c.3788-3C>A (n.3788-3C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090090_197090091insAAAAAACA2747239568ASPMn.3117-4_3117-3insTTTTTT
c.9830-4_9830-3insTTTTTT (n.9830-4_9830-3insTTTTTT)
c.10052-4_10052-3insTTTTTT (n.10052-4_10052-3insTTTTTT)
c.9806-4_9806-3insTTTTTT (n.9806-4_9806-3insTTTTTT)
c.5075-4_5075-3insTTTTTT (n.5075-4_5075-3insTTTTTT)
c.2825-4_2825-3insTTTTTT (n.2825-4_2825-3insTTTTTT)
c.3788-4_3788-3insTTTTTT (n.3788-4_3788-3insTTTTTT)
1g.197090090dupCA2649660600ASPMn.3117-4dup
c.9830-4dup (n.9830-4dup)
c.10052-4dup (n.10052-4dup)
c.9806-4dup (n.9806-4dup)
c.5075-4dup (n.5075-4dup)
c.2825-4dup (n.2825-4dup)
c.3788-4dup (n.3788-4dup)
 gnomAD v4
1g.197090091delCA2649660601ASPMn.3117-7del
c.9830-7del (n.9830-7del)
c.10052-7del (n.10052-7del)
c.9806-7del (n.9806-7del)
c.5075-7del (n.5075-7del)
c.2825-7del (n.2825-7del)
c.3788-7del (n.3788-7del)
 gnomAD v4
1g.197090091G>ACA528534961ASPMn.3117-7C>T
c.9830-7C>T (n.9830-7C>T)
c.10052-7C>T (n.10052-7C>T)
c.9806-7C>T (n.9806-7C>T)
c.5075-7C>T (n.5075-7C>T)
c.2825-7C>T (n.2825-7C>T)
c.3788-7C>T (n.3788-7C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197090091G=CA1217924995ASPMn.3117-7C=
c.9830-7C= (n.9830-7C=)
c.10052-7C= (n.10052-7C=)
c.9806-7C= (n.9806-7C=)
c.5075-7C= (n.5075-7C=)
c.2825-7C= (n.2825-7C=)
c.3788-7C= (n.3788-7C=)
1g.197090091_197090092delinsGACA1217924994ASPMn.3117-8_3117-7delinsTC
c.9830-8_9830-7delinsTC (n.9830-8_9830-7delinsTC)
c.10052-8_10052-7delinsTC (n.10052-8_10052-7delinsTC)
c.9806-8_9806-7delinsTC (n.9806-8_9806-7delinsTC)
c.5075-8_5075-7delinsTC (n.5075-8_5075-7delinsTC)
c.2825-8_2825-7delinsTC (n.2825-8_2825-7delinsTC)
c.3788-8_3788-7delinsTC (n.3788-8_3788-7delinsTC)
1g.197090092A=CA1217925003ASPMn.3117-8T=
c.9830-8T= (n.9830-8T=)
c.10052-8T= (n.10052-8T=)
c.9806-8T= (n.9806-8T=)
c.5075-8T= (n.5075-8T=)
c.2825-8T= (n.2825-8T=)
c.3788-8T= (n.3788-8T=)
1g.197090092A>CCA528534962ASPMn.3117-8T>G
c.9830-8T>G (n.9830-8T>G)
c.10052-8T>G (n.10052-8T>G)
c.9806-8T>G (n.9806-8T>G)
c.5075-8T>G (n.5075-8T>G)
c.2825-8T>G (n.2825-8T>G)
c.3788-8T>G (n.3788-8T>G)
 dbSNP gnomAD v2
1g.197090092A>GCA2573978433ASPMn.3117-8T>C
c.9830-8T>C (n.9830-8T>C)
c.10052-8T>C (n.10052-8T>C)
c.9806-8T>C (n.9806-8T>C)
c.5075-8T>C (n.5075-8T>C)
c.2825-8T>C (n.2825-8T>C)
c.3788-8T>C (n.3788-8T>C)
1g.197090092_197090101delinsAAAAAAAAAACA1148879275ASPMn.3117-17_3117-8delinsTTTTTTTTTT
c.9830-17_9830-8delinsTTTTTTTTTT (n.9830-17_9830-8delinsTTTTTTTTTT)
c.10052-17_10052-8delinsTTTTTTTTTT (n.10052-17_10052-8delinsTTTTTTTTTT)
c.9806-17_9806-8delinsTTTTTTTTTT (n.9806-17_9806-8delinsTTTTTTTTTT)
c.5075-17_5075-8delinsTTTTTTTTTT (n.5075-17_5075-8delinsTTTTTTTTTT)
c.2825-17_2825-8delinsTTTTTTTTTT (n.2825-17_2825-8delinsTTTTTTTTTT)
c.3788-17_3788-8delinsTTTTTTTTTT (n.3788-17_3788-8delinsTTTTTTTTTT)
1g.197090101dupCA242573ASPMn.3117-8dup
c.9830-8dup (n.9830-8dup)
c.10052-8dup (n.10052-8dup)
c.9806-8dup (n.9806-8dup)
c.5075-8dup (n.5075-8dup)
c.2825-8dup (n.2825-8dup)
c.3788-8dup (n.3788-8dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090100_197090101dupCA2649660602ASPMn.3117-9_3117-8dup
c.9830-9_9830-8dup (n.9830-9_9830-8dup)
c.10052-9_10052-8dup (n.10052-9_10052-8dup)
c.9806-9_9806-8dup (n.9806-9_9806-8dup)
c.5075-9_5075-8dup (n.5075-9_5075-8dup)
c.2825-9_2825-8dup (n.2825-9_2825-8dup)
c.3788-9_3788-8dup (n.3788-9_3788-8dup)
 gnomAD v4
1g.197090099_197090101dupCA2649660603ASPMn.3117-10_3117-8dup
c.9830-10_9830-8dup (n.9830-10_9830-8dup)
c.10052-10_10052-8dup (n.10052-10_10052-8dup)
c.9806-10_9806-8dup (n.9806-10_9806-8dup)
c.5075-10_5075-8dup (n.5075-10_5075-8dup)
c.2825-10_2825-8dup (n.2825-10_2825-8dup)
c.3788-10_3788-8dup (n.3788-10_3788-8dup)
 gnomAD v4
1g.197090101delCA1308838ASPMn.3117-8del
c.9830-8del (n.9830-8del)
c.10052-8del (n.10052-8del)
c.9806-8del (n.9806-8del)
c.5075-8del (n.5075-8del)
c.2825-8del (n.2825-8del)
c.3788-8del (n.3788-8del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197090100_197090101delCA2540238987ASPMn.3117-9_3117-8del
c.9830-9_9830-8del (n.9830-9_9830-8del)
c.10052-9_10052-8del (n.10052-9_10052-8del)
c.9806-9_9806-8del (n.9806-9_9806-8del)
c.5075-9_5075-8del (n.5075-9_5075-8del)
c.2825-9_2825-8del (n.2825-9_2825-8del)
c.3788-9_3788-8del (n.3788-9_3788-8del)
 gnomAD v4
1g.197090099A>CCA2649660604ASPMn.3117-15T>G
c.9830-15T>G (n.9830-15T>G)
c.10052-15T>G (n.10052-15T>G)
c.9806-15T>G (n.9806-15T>G)
c.5075-15T>G (n.5075-15T>G)
c.2825-15T>G (n.2825-15T>G)
c.3788-15T>G (n.3788-15T>G)
 gnomAD v4
1g.197090099_197090102delinsAAACCA1217925005ASPMn.3117-18_3117-15delinsGTTT
c.9830-18_9830-15delinsGTTT (n.9830-18_9830-15delinsGTTT)
c.10052-18_10052-15delinsGTTT (n.10052-18_10052-15delinsGTTT)
c.9806-18_9806-15delinsGTTT (n.9806-18_9806-15delinsGTTT)
c.5075-18_5075-15delinsGTTT (n.5075-18_5075-15delinsGTTT)
c.2825-18_2825-15delinsGTTT (n.2825-18_2825-15delinsGTTT)
c.3788-18_3788-15delinsGTTT (n.3788-18_3788-15delinsGTTT)
1g.197090100A=CA1143700303ASPMn.3117-16T=
c.9830-16T= (n.9830-16T=)
c.10052-16T= (n.10052-16T=)
c.9806-16T= (n.9806-16T=)
c.5075-16T= (n.5075-16T=)
c.2825-16T= (n.2825-16T=)
c.3788-16T= (n.3788-16T=)
1g.197090100A>CCA1308840ASPMn.3117-16T>G
c.9830-16T>G (n.9830-16T>G)
c.10052-16T>G (n.10052-16T>G)
c.9806-16T>G (n.9806-16T>G)
c.5075-16T>G (n.5075-16T>G)
c.2825-16T>G (n.2825-16T>G)
c.3788-16T>G (n.3788-16T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090101_197090103delCA1217925013ASPMn.3117-18_3117-16del
c.9830-18_9830-16del (n.9830-18_9830-16del)
c.10052-18_10052-16del (n.10052-18_10052-16del)
c.9806-18_9806-16del (n.9806-18_9806-16del)
c.5075-18_5075-16del (n.5075-18_5075-16del)
c.2825-18_2825-16del (n.2825-18_2825-16del)
c.3788-18_3788-16del (n.3788-18_3788-16del)
 dbSNP gnomAD v4
1g.197090100_197090104delinsAACACCA1217925011ASPMn.3117-20_3117-16delinsGTGTT
c.9830-20_9830-16delinsGTGTT (n.9830-20_9830-16delinsGTGTT)
c.10052-20_10052-16delinsGTGTT (n.10052-20_10052-16delinsGTGTT)
c.9806-20_9806-16delinsGTGTT (n.9806-20_9806-16delinsGTGTT)
c.5075-20_5075-16delinsGTGTT (n.5075-20_5075-16delinsGTGTT)
c.2825-20_2825-16delinsGTGTT (n.2825-20_2825-16delinsGTGTT)
c.3788-20_3788-16delinsGTGTT (n.3788-20_3788-16delinsGTGTT)
1g.197090100_197090101insCCA1308842ASPMn.3117-17_3117-16insG
c.9830-17_9830-16insG (n.9830-17_9830-16insG)
c.10052-17_10052-16insG (n.10052-17_10052-16insG)
c.9806-17_9806-16insG (n.9806-17_9806-16insG)
c.5075-17_5075-16insG (n.5075-17_5075-16insG)
c.2825-17_2825-16insG (n.2825-17_2825-16insG)
c.3788-17_3788-16insG (n.3788-17_3788-16insG)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090101A=CA1217925023ASPMn.3117-17T=
c.9830-17T= (n.9830-17T=)
c.10052-17T= (n.10052-17T=)
c.9806-17T= (n.9806-17T=)
c.5075-17T= (n.5075-17T=)
c.2825-17T= (n.2825-17T=)
c.3788-17T= (n.3788-17T=)
1g.197090101A>CCA528534963ASPMn.3117-17T>G
c.9830-17T>G (n.9830-17T>G)
c.10052-17T>G (n.10052-17T>G)
c.9806-17T>G (n.9806-17T>G)
c.5075-17T>G (n.5075-17T>G)
c.2825-17T>G (n.2825-17T>G)
c.3788-17T>G (n.3788-17T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197090101_197090102insACACA2649660605ASPMn.3117-17_3117-16insGTT
c.9830-17_9830-16insGTT (n.9830-17_9830-16insGTT)
c.10052-17_10052-16insGTT (n.10052-17_10052-16insGTT)
c.9806-17_9806-16insGTT (n.9806-17_9806-16insGTT)
c.5075-17_5075-16insGTT (n.5075-17_5075-16insGTT)
c.2825-17_2825-16insGTT (n.2825-17_2825-16insGTT)
c.3788-17_3788-16insGTT (n.3788-17_3788-16insGTT)
 gnomAD v4
1g.197090101_197090102insAACACA2554584242ASPMn.3117-17_3117-16insGTTT
c.9830-17_9830-16insGTTT (n.9830-17_9830-16insGTTT)
c.10052-17_10052-16insGTTT (n.10052-17_10052-16insGTTT)
c.9806-17_9806-16insGTTT (n.9806-17_9806-16insGTTT)
c.5075-17_5075-16insGTTT (n.5075-17_5075-16insGTTT)
c.2825-17_2825-16insGTTT (n.2825-17_2825-16insGTTT)
c.3788-17_3788-16insGTTT (n.3788-17_3788-16insGTTT)
1g.197090101_197090104delinsACACCA1217925021ASPMn.3117-20_3117-17delinsGTGT
c.9830-20_9830-17delinsGTGT (n.9830-20_9830-17delinsGTGT)
c.10052-20_10052-17delinsGTGT (n.10052-20_10052-17delinsGTGT)
c.9806-20_9806-17delinsGTGT (n.9806-20_9806-17delinsGTGT)
c.5075-20_5075-17delinsGTGT (n.5075-20_5075-17delinsGTGT)
c.2825-20_2825-17delinsGTGT (n.2825-20_2825-17delinsGTGT)
c.3788-20_3788-17delinsGTGT (n.3788-20_3788-17delinsGTGT)
1g.197090101_197090113delinsACACACACACACACA1149107473ASPMn.3117-29_3117-17delinsTGTGTGTGTGTGT
c.9830-29_9830-17delinsTGTGTGTGTGTGT (n.9830-29_9830-17delinsTGTGTGTGTGTGT)
c.10052-29_10052-17delinsTGTGTGTGTGTGT (n.10052-29_10052-17delinsTGTGTGTGTGTGT)
c.9806-29_9806-17delinsTGTGTGTGTGTGT (n.9806-29_9806-17delinsTGTGTGTGTGTGT)
c.5075-29_5075-17delinsTGTGTGTGTGTGT (n.5075-29_5075-17delinsTGTGTGTGTGTGT)
c.2825-29_2825-17delinsTGTGTGTGTGTGT (n.2825-29_2825-17delinsTGTGTGTGTGTGT)
c.3788-29_3788-17delinsTGTGTGTGTGTGT (n.3788-29_3788-17delinsTGTGTGTGTGTGT)
1g.197090112_197090113dupCA1308841ASPMn.3117-18_3117-17dup
c.9830-18_9830-17dup (n.9830-18_9830-17dup)
c.10052-18_10052-17dup (n.10052-18_10052-17dup)
c.9806-18_9806-17dup (n.9806-18_9806-17dup)
c.5075-18_5075-17dup (n.5075-18_5075-17dup)
c.2825-18_2825-17dup (n.2825-18_2825-17dup)
c.3788-18_3788-17dup (n.3788-18_3788-17dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090112_197090113delCA1308839ASPMn.3117-18_3117-17del
c.9830-18_9830-17del (n.9830-18_9830-17del)
c.10052-18_10052-17del (n.10052-18_10052-17del)
c.9806-18_9806-17del (n.9806-18_9806-17del)
c.5075-18_5075-17del (n.5075-18_5075-17del)
c.2825-18_2825-17del (n.2825-18_2825-17del)
c.3788-18_3788-17del (n.3788-18_3788-17del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090110_197090113delCA1308843ASPMn.3117-20_3117-17del
c.9830-20_9830-17del (n.9830-20_9830-17del)
c.10052-20_10052-17del (n.10052-20_10052-17del)
c.9806-20_9806-17del (n.9806-20_9806-17del)
c.5075-20_5075-17del (n.5075-20_5075-17del)
c.2825-20_2825-17del (n.2825-20_2825-17del)
c.3788-20_3788-17del (n.3788-20_3788-17del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090101_197090102insTCA2649660606ASPMn.3117-18_3117-17insA
c.9830-18_9830-17insA (n.9830-18_9830-17insA)
c.10052-18_10052-17insA (n.10052-18_10052-17insA)
c.9806-18_9806-17insA (n.9806-18_9806-17insA)
c.5075-18_5075-17insA (n.5075-18_5075-17insA)
c.2825-18_2825-17insA (n.2825-18_2825-17insA)
c.3788-18_3788-17insA (n.3788-18_3788-17insA)
 gnomAD v4
1g.197090102delCA528534964ASPMn.3117-18del
c.9830-18del (n.9830-18del)
c.10052-18del (n.10052-18del)
c.9806-18del (n.9806-18del)
c.5075-18del (n.5075-18del)
c.2825-18del (n.2825-18del)
c.3788-18del (n.3788-18del)
 gnomAD v2 gnomAD v3 gnomAD v4
1g.197090102C>ACA1308845ASPMn.3117-18G>T
c.9830-18G>T (n.9830-18G>T)
c.10052-18G>T (n.10052-18G>T)
c.9806-18G>T (n.9806-18G>T)
c.5075-18G>T (n.5075-18G>T)
c.2825-18G>T (n.2825-18G>T)
c.3788-18G>T (n.3788-18G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090102C=CA1143441861ASPMn.3117-18G=
c.9830-18G= (n.9830-18G=)
c.10052-18G= (n.10052-18G=)
c.9806-18G= (n.9806-18G=)
c.5075-18G= (n.5075-18G=)
c.2825-18G= (n.2825-18G=)
c.3788-18G= (n.3788-18G=)
1g.197090102C>TCA1308846ASPMn.3117-18G>A
c.9830-18G>A (n.9830-18G>A)
c.10052-18G>A (n.10052-18G>A)
c.9806-18G>A (n.9806-18G>A)
c.5075-18G>A (n.5075-18G>A)
c.2825-18G>A (n.2825-18G>A)
c.3788-18G>A (n.3788-18G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090102_197090104delCA1308844ASPMn.3117-20_3117-18del
c.9830-20_9830-18del (n.9830-20_9830-18del)
c.10052-20_10052-18del (n.10052-20_10052-18del)
c.9806-20_9806-18del (n.9806-20_9806-18del)
c.5075-20_5075-18del (n.5075-20_5075-18del)
c.2825-20_2825-18del (n.2825-20_2825-18del)
c.3788-20_3788-18del (n.3788-20_3788-18del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090103A>GCA2573978960ASPMn.3117-19T>C
c.9830-19T>C (n.9830-19T>C)
c.10052-19T>C (n.10052-19T>C)
c.9806-19T>C (n.9806-19T>C)
c.5075-19T>C (n.5075-19T>C)
c.2825-19T>C (n.2825-19T>C)
c.3788-19T>C (n.3788-19T>C)
1g.197090104C>ACA528534965ASPMn.3117-20G>T
c.9830-20G>T (n.9830-20G>T)
c.10052-20G>T (n.10052-20G>T)
c.9806-20G>T (n.9806-20G>T)
c.5075-20G>T (n.5075-20G>T)
c.2825-20G>T (n.2825-20G>T)
c.3788-20G>T (n.3788-20G>T)
 dbSNP gnomAD v2
1g.197090104C=CA1149128181ASPMn.3117-20G=
c.9830-20G= (n.9830-20G=)
c.10052-20G= (n.10052-20G=)
c.9806-20G= (n.9806-20G=)
c.5075-20G= (n.5075-20G=)
c.2825-20G= (n.2825-20G=)
c.3788-20G= (n.3788-20G=)
1g.197090104C>TCA1308847ASPMn.3117-20G>A
c.9830-20G>A (n.9830-20G>A)
c.10052-20G>A (n.10052-20G>A)
c.9806-20G>A (n.9806-20G>A)
c.5075-20G>A (n.5075-20G>A)
c.2825-20G>A (n.2825-20G>A)
c.3788-20G>A (n.3788-20G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090105A>CCA2649660607ASPMn.3117-21T>G
c.9830-21T>G (n.9830-21T>G)
c.10052-21T>G (n.10052-21T>G)
c.9806-21T>G (n.9806-21T>G)
c.5075-21T>G (n.5075-21T>G)
c.2825-21T>G (n.2825-21T>G)
c.3788-21T>G (n.3788-21T>G)
 gnomAD v4
1g.197090105_197090106insAACCAAACA2747239569ASPMn.3117-21_3117-20insTTGGTTT
c.9830-21_9830-20insTTGGTTT (n.9830-21_9830-20insTTGGTTT)
c.10052-21_10052-20insTTGGTTT (n.10052-21_10052-20insTTGGTTT)
c.9806-21_9806-20insTTGGTTT (n.9806-21_9806-20insTTGGTTT)
c.5075-21_5075-20insTTGGTTT (n.5075-21_5075-20insTTGGTTT)
c.2825-21_2825-20insTTGGTTT (n.2825-21_2825-20insTTGGTTT)
c.3788-21_3788-20insTTGGTTT (n.3788-21_3788-20insTTGGTTT)
1g.197090106C>ACA528534966ASPMn.3117-22G>T
c.9830-22G>T (n.9830-22G>T)
c.10052-22G>T (n.10052-22G>T)
c.9806-22G>T (n.9806-22G>T)
c.5075-22G>T (n.5075-22G>T)
c.2825-22G>T (n.2825-22G>T)
c.3788-22G>T (n.3788-22G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197090106C=CA1217925035ASPMn.3117-22G=
c.9830-22G= (n.9830-22G=)
c.10052-22G= (n.10052-22G=)
c.9806-22G= (n.9806-22G=)
c.5075-22G= (n.5075-22G=)
c.2825-22G= (n.2825-22G=)
c.3788-22G= (n.3788-22G=)
1g.197090106C>GCA2649660608ASPMn.3117-22G>C
c.9830-22G>C (n.9830-22G>C)
c.10052-22G>C (n.10052-22G>C)
c.9806-22G>C (n.9806-22G>C)
c.5075-22G>C (n.5075-22G>C)
c.2825-22G>C (n.2825-22G>C)
c.3788-22G>C (n.3788-22G>C)
 gnomAD v4
1g.197090107A=CA1217925037ASPMn.3117-23T=
c.9830-23T= (n.9830-23T=)
c.10052-23T= (n.10052-23T=)
c.9806-23T= (n.9806-23T=)
c.5075-23T= (n.5075-23T=)
c.2825-23T= (n.2825-23T=)
c.3788-23T= (n.3788-23T=)
1g.197090107A>GCA2573978961ASPMn.3117-23T>C
c.9830-23T>C (n.9830-23T>C)
c.10052-23T>C (n.10052-23T>C)
c.9806-23T>C (n.9806-23T>C)
c.5075-23T>C (n.5075-23T>C)
c.2825-23T>C (n.2825-23T>C)
c.3788-23T>C (n.3788-23T>C)
 gnomAD v4
1g.197090107A>TCA35861882ASPMn.3117-23T>A
c.9830-23T>A (n.9830-23T>A)
c.10052-23T>A (n.10052-23T>A)
c.9806-23T>A (n.9806-23T>A)
c.5075-23T>A (n.5075-23T>A)
c.2825-23T>A (n.2825-23T>A)
c.3788-23T>A (n.3788-23T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197090108C=CA1143903868ASPMn.3117-24G=
c.9830-24G= (n.9830-24G=)
c.10052-24G= (n.10052-24G=)
c.9806-24G= (n.9806-24G=)
c.5075-24G= (n.5075-24G=)
c.2825-24G= (n.2825-24G=)
c.3788-24G= (n.3788-24G=)
1g.197090108C>TCA1308848ASPMn.3117-24G>A
c.9830-24G>A (n.9830-24G>A)
c.10052-24G>A (n.10052-24G>A)
c.9806-24G>A (n.9806-24G>A)
c.5075-24G>A (n.5075-24G>A)
c.2825-24G>A (n.2825-24G>A)
c.3788-24G>A (n.3788-24G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090110_197090111insCCAACCA2747239570ASPMn.3117-25_3117-24insTGGGT
c.9830-25_9830-24insTGGGT (n.9830-25_9830-24insTGGGT)
c.10052-25_10052-24insTGGGT (n.10052-25_10052-24insTGGGT)
c.9806-25_9806-24insTGGGT (n.9806-25_9806-24insTGGGT)
c.5075-25_5075-24insTGGGT (n.5075-25_5075-24insTGGGT)
c.2825-25_2825-24insTGGGT (n.2825-25_2825-24insTGGGT)
c.3788-25_3788-24insTGGGT (n.3788-25_3788-24insTGGGT)
1g.197090110C=CA1217925041ASPMn.3117-26G=
c.9830-26G= (n.9830-26G=)
c.10052-26G= (n.10052-26G=)
c.9806-26G= (n.9806-26G=)
c.5075-26G= (n.5075-26G=)
c.2825-26G= (n.2825-26G=)
c.3788-26G= (n.3788-26G=)
1g.197090110C>GCA1308849ASPMn.3117-26G>C
c.9830-26G>C (n.9830-26G>C)
c.10052-26G>C (n.10052-26G>C)
c.9806-26G>C (n.9806-26G>C)
c.5075-26G>C (n.5075-26G>C)
c.2825-26G>C (n.2825-26G>C)
c.3788-26G>C (n.3788-26G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090112C>ACA528534967ASPMn.3117-28G>T
c.9830-28G>T (n.9830-28G>T)
c.10052-28G>T (n.10052-28G>T)
c.9806-28G>T (n.9806-28G>T)
c.5075-28G>T (n.5075-28G>T)
c.2825-28G>T (n.2825-28G>T)
c.3788-28G>T (n.3788-28G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.197090112C=CA1143677538ASPMn.3117-28G=
c.9830-28G= (n.9830-28G=)
c.10052-28G= (n.10052-28G=)
c.9806-28G= (n.9806-28G=)
c.5075-28G= (n.5075-28G=)
c.2825-28G= (n.2825-28G=)
c.3788-28G= (n.3788-28G=)
1g.197090112C>GCA729741910ASPMn.3117-28G>C
c.9830-28G>C (n.9830-28G>C)
c.10052-28G>C (n.10052-28G>C)
c.9806-28G>C (n.9806-28G>C)
c.5075-28G>C (n.5075-28G>C)
c.2825-28G>C (n.2825-28G>C)
c.3788-28G>C (n.3788-28G>C)
 dbSNP gnomAD v3 gnomAD v4
1g.197090112C>TCA1308850ASPMn.3117-28G>A
c.9830-28G>A (n.9830-28G>A)
c.10052-28G>A (n.10052-28G>A)
c.9806-28G>A (n.9806-28G>A)
c.5075-28G>A (n.5075-28G>A)
c.2825-28G>A (n.2825-28G>A)
c.3788-28G>A (n.3788-28G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090114G>CCA1217925050ASPMn.3117-30C>G
c.9830-30C>G (n.9830-30C>G)
c.10052-30C>G (n.10052-30C>G)
c.9806-30C>G (n.9806-30C>G)
c.5075-30C>G (n.5075-30C>G)
c.2825-30C>G (n.2825-30C>G)
c.3788-30C>G (n.3788-30C>G)
 dbSNP
1g.197090114G=CA1217925049ASPMn.3117-30C=
c.9830-30C= (n.9830-30C=)
c.10052-30C= (n.10052-30C=)
c.9806-30C= (n.9806-30C=)
c.5075-30C= (n.5075-30C=)
c.2825-30C= (n.2825-30C=)
c.3788-30C= (n.3788-30C=)
1g.197090115G>ACA729741914ASPMn.3117-31C>T
c.9830-31C>T (n.9830-31C>T)
c.10052-31C>T (n.10052-31C>T)
c.9806-31C>T (n.9806-31C>T)
c.5075-31C>T (n.5075-31C>T)
c.2825-31C>T (n.2825-31C>T)
c.3788-31C>T (n.3788-31C>T)
 dbSNP
1g.197090115G=CA1217925051ASPMn.3117-31C=
c.9830-31C= (n.9830-31C=)
c.10052-31C= (n.10052-31C=)
c.9806-31C= (n.9806-31C=)
c.5075-31C= (n.5075-31C=)
c.2825-31C= (n.2825-31C=)
c.3788-31C= (n.3788-31C=)
1g.197090116T>ACA1010898225ASPMn.3117-32A>T
c.9830-32A>T (n.9830-32A>T)
c.10052-32A>T (n.10052-32A>T)
c.9806-32A>T (n.9806-32A>T)
c.5075-32A>T (n.5075-32A>T)
c.2825-32A>T (n.2825-32A>T)
c.3788-32A>T (n.3788-32A>T)
 gnomAD v3 gnomAD v4
1g.197090116T>CCA1217925053ASPMn.3117-32A>G
c.9830-32A>G (n.9830-32A>G)
c.10052-32A>G (n.10052-32A>G)
c.9806-32A>G (n.9806-32A>G)
c.5075-32A>G (n.5075-32A>G)
c.2825-32A>G (n.2825-32A>G)
c.3788-32A>G (n.3788-32A>G)
 dbSNP gnomAD v4
1g.197090116T=CA1217925052ASPMn.3117-32A=
c.9830-32A= (n.9830-32A=)
c.10052-32A= (n.10052-32A=)
c.9806-32A= (n.9806-32A=)
c.5075-32A= (n.5075-32A=)
c.2825-32A= (n.2825-32A=)
c.3788-32A= (n.3788-32A=)
1g.197090117A=CA1217925055ASPMn.3117-33T=
c.9830-33T= (n.9830-33T=)
c.10052-33T= (n.10052-33T=)
c.9806-33T= (n.9806-33T=)
c.5075-33T= (n.5075-33T=)
c.2825-33T= (n.2825-33T=)
c.3788-33T= (n.3788-33T=)
1g.197090117A>GCA1217925054ASPMn.3117-33T>C
c.9830-33T>C (n.9830-33T>C)
c.10052-33T>C (n.10052-33T>C)
c.9806-33T>C (n.9806-33T>C)
c.5075-33T>C (n.5075-33T>C)
c.2825-33T>C (n.2825-33T>C)
c.3788-33T>C (n.3788-33T>C)
 dbSNP gnomAD v4
1g.197090120T>CCA1217925058ASPMn.3117-36A>G
c.9830-36A>G (n.9830-36A>G)
c.10052-36A>G (n.10052-36A>G)
c.9806-36A>G (n.9806-36A>G)
c.5075-36A>G (n.5075-36A>G)
c.2825-36A>G (n.2825-36A>G)
c.3788-36A>G (n.3788-36A>G)
 dbSNP gnomAD v4
1g.197090120T>GCA2649660609ASPMn.3117-36A>C
c.9830-36A>C (n.9830-36A>C)
c.10052-36A>C (n.10052-36A>C)
c.9806-36A>C (n.9806-36A>C)
c.5075-36A>C (n.5075-36A>C)
c.2825-36A>C (n.2825-36A>C)
c.3788-36A>C (n.3788-36A>C)
 gnomAD v4
1g.197090120T=CA1217925057ASPMn.3117-36A=
c.9830-36A= (n.9830-36A=)
c.10052-36A= (n.10052-36A=)
c.9806-36A= (n.9806-36A=)
c.5075-36A= (n.5075-36A=)
c.2825-36A= (n.2825-36A=)
c.3788-36A= (n.3788-36A=)
1g.197090121T>GCA2649660610ASPMn.3117-37A>C
c.9830-37A>C (n.9830-37A>C)
c.10052-37A>C (n.10052-37A>C)
c.9806-37A>C (n.9806-37A>C)
c.5075-37A>C (n.5075-37A>C)
c.2825-37A>C (n.2825-37A>C)
c.3788-37A>C (n.3788-37A>C)
 gnomAD v4
1g.197090122T>GCA2649660611ASPMn.3117-38A>C
c.9830-38A>C (n.9830-38A>C)
c.10052-38A>C (n.10052-38A>C)
c.9806-38A>C (n.9806-38A>C)
c.5075-38A>C (n.5075-38A>C)
c.2825-38A>C (n.2825-38A>C)
c.3788-38A>C (n.3788-38A>C)
 gnomAD v4
1g.197090123A=CA1143383257ASPMn.3117-39T=
c.9830-39T= (n.9830-39T=)
c.10052-39T= (n.10052-39T=)
c.9806-39T= (n.9806-39T=)
c.5075-39T= (n.5075-39T=)
c.2825-39T= (n.2825-39T=)
c.3788-39T= (n.3788-39T=)
1g.197090123A>CCA1308851ASPMn.3117-39T>G
c.9830-39T>G (n.9830-39T>G)
c.10052-39T>G (n.10052-39T>G)
c.9806-39T>G (n.9806-39T>G)
c.5075-39T>G (n.5075-39T>G)
c.2825-39T>G (n.2825-39T>G)
c.3788-39T>G (n.3788-39T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090126G>ACA2747239571ASPMn.3117-42C>T
c.9830-42C>T (n.9830-42C>T)
c.10052-42C>T (n.10052-42C>T)
c.9806-42C>T (n.9806-42C>T)
c.5075-42C>T (n.5075-42C>T)
c.2825-42C>T (n.2825-42C>T)
c.3788-42C>T (n.3788-42C>T)
1g.197090127C=CA1217925060ASPMn.3117-43G=
c.9830-43G= (n.9830-43G=)
c.10052-43G= (n.10052-43G=)
c.9806-43G= (n.9806-43G=)
c.5075-43G= (n.5075-43G=)
c.2825-43G= (n.2825-43G=)
c.3788-43G= (n.3788-43G=)
1g.197090127C>TCA1217925062ASPMn.3117-43G>A
c.9830-43G>A (n.9830-43G>A)
c.10052-43G>A (n.10052-43G>A)
c.9806-43G>A (n.9806-43G>A)
c.5075-43G>A (n.5075-43G>A)
c.2825-43G>A (n.2825-43G>A)
c.3788-43G>A (n.3788-43G>A)
 dbSNP
1g.197090129A>GCA2649660612ASPMn.3117-45T>C
c.9830-45T>C (n.9830-45T>C)
c.10052-45T>C (n.10052-45T>C)
c.9806-45T>C (n.9806-45T>C)
c.5075-45T>C (n.5075-45T>C)
c.2825-45T>C (n.2825-45T>C)
c.3788-45T>C (n.3788-45T>C)
 gnomAD v4
1g.197090130C=CA1145894065ASPMn.3117-46G=
c.9830-46G= (n.9830-46G=)
c.10052-46G= (n.10052-46G=)
c.9806-46G= (n.9806-46G=)
c.5075-46G= (n.5075-46G=)
c.2825-46G= (n.2825-46G=)
c.3788-46G= (n.3788-46G=)
1g.197090130C>TCA1308852ASPMn.3117-46G>A
c.9830-46G>A (n.9830-46G>A)
c.10052-46G>A (n.10052-46G>A)
c.9806-46G>A (n.9806-46G>A)
c.5075-46G>A (n.5075-46G>A)
c.2825-46G>A (n.2825-46G>A)
c.3788-46G>A (n.3788-46G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090131A=CA1147306324ASPMn.3117-47T=
c.9830-47T= (n.9830-47T=)
c.10052-47T= (n.10052-47T=)
c.9806-47T= (n.9806-47T=)
c.5075-47T= (n.5075-47T=)
c.2825-47T= (n.2825-47T=)
c.3788-47T= (n.3788-47T=)
1g.197090131A>GCA1308853ASPMn.3117-47T>C
c.9830-47T>C (n.9830-47T>C)
c.10052-47T>C (n.10052-47T>C)
c.9806-47T>C (n.9806-47T>C)
c.5075-47T>C (n.5075-47T>C)
c.2825-47T>C (n.2825-47T>C)
c.3788-47T>C (n.3788-47T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090132A=CA1217925064ASPMn.3117-48T=
c.9830-48T= (n.9830-48T=)
c.10052-48T= (n.10052-48T=)
c.9806-48T= (n.9806-48T=)
c.5075-48T= (n.5075-48T=)
c.2825-48T= (n.2825-48T=)
c.3788-48T= (n.3788-48T=)
1g.197090132A>TCA528534969ASPMn.3117-48T>A
c.9830-48T>A (n.9830-48T>A)
c.10052-48T>A (n.10052-48T>A)
c.9806-48T>A (n.9806-48T>A)
c.5075-48T>A (n.5075-48T>A)
c.2825-48T>A (n.2825-48T>A)
c.3788-48T>A (n.3788-48T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197090133_197090134insCCAAACACACCCAACACCA2747239572ASPMn.3117-50_3117-49insGTGTTGGGTGTGTTTGG
c.9830-50_9830-49insGTGTTGGGTGTGTTTGG (n.9830-50_9830-49insGTGTTGGGTGTGTTTGG)
c.10052-50_10052-49insGTGTTGGGTGTGTTTGG (n.10052-50_10052-49insGTGTTGGGTGTGTTTGG)
c.9806-50_9806-49insGTGTTGGGTGTGTTTGG (n.9806-50_9806-49insGTGTTGGGTGTGTTTGG)
c.5075-50_5075-49insGTGTTGGGTGTGTTTGG (n.5075-50_5075-49insGTGTTGGGTGTGTTTGG)
c.2825-50_2825-49insGTGTTGGGTGTGTTTGG (n.2825-50_2825-49insGTGTTGGGTGTGTTTGG)
c.3788-50_3788-49insGTGTTGGGTGTGTTTGG (n.3788-50_3788-49insGTGTTGGGTGTGTTTGG)
1g.197090135T>CCA2508693544ASPMn.3117-51A>G
c.9830-51A>G (n.9830-51A>G)
c.10052-51A>G (n.10052-51A>G)
c.9806-51A>G (n.9806-51A>G)
c.5075-51A>G (n.5075-51A>G)
c.2825-51A>G (n.2825-51A>G)
c.3788-51A>G (n.3788-51A>G)
1g.197090136G=CA1217925065ASPMn.3117-52C=
c.9830-52C= (n.9830-52C=)
c.10052-52C= (n.10052-52C=)
c.9806-52C= (n.9806-52C=)
c.5075-52C= (n.5075-52C=)
c.2825-52C= (n.2825-52C=)
c.3788-52C= (n.3788-52C=)
1g.197090136G>TCA528534970ASPMn.3117-52C>A
c.9830-52C>A (n.9830-52C>A)
c.10052-52C>A (n.10052-52C>A)
c.9806-52C>A (n.9806-52C>A)
c.5075-52C>A (n.5075-52C>A)
c.2825-52C>A (n.2825-52C>A)
c.3788-52C>A (n.3788-52C>A)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched