Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197088304T>ACA343997682ASPMn.3400A>T
c.10113A>T (p.Lys3371Asn)
c.10335A>T (p.Lys3445Asn)
c.10089A>T (p.Lys3363Asn)
c.5358A>T (p.Lys1786Asn)
c.3108A>T (p.Lys1036Asn)
c.4071A>T (p.Lys1357Asn)
1g.197088304T>CCA422672172ASPMn.3400A>G
c.10113A>G (p.Lys3371=)
c.10335A>G (p.Lys3445=)
c.10089A>G (p.Lys3363=)
c.5358A>G (p.Lys1786=)
c.3108A>G (p.Lys1036=)
c.4071A>G (p.Lys1357=)
1g.197088304T>GCA1308794ASPMn.3400A>C
c.10113A>C (p.Lys3371Asn)
c.10335A>C (p.Lys3445Asn)
c.10089A>C (p.Lys3363Asn)
c.5358A>C (p.Lys1786Asn)
c.3108A>C (p.Lys1036Asn)
c.4071A>C (p.Lys1357Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197088304T=CA1217923504ASPMn.3400A=
c.10113A= (p.Lys3371=)
c.10335A= (p.Lys3445=)
c.10089A= (p.Lys3363=)
c.5358A= (p.Lys1786=)
c.3108A= (p.Lys1036=)
c.4071A= (p.Lys1357=)
1g.197088305T>ACA343997683ASPMn.3399A>T
c.10112A>T (p.Lys3371Ile)
c.10334A>T (p.Lys3445Ile)
c.10088A>T (p.Lys3363Ile)
c.5357A>T (p.Lys1786Ile)
c.3107A>T (p.Lys1036Ile)
c.4070A>T (p.Lys1357Ile)
1g.197088305T>CCA343997685ASPMn.3399A>G
c.10112A>G (p.Lys3371Arg)
c.10334A>G (p.Lys3445Arg)
c.10088A>G (p.Lys3363Arg)
c.5357A>G (p.Lys1786Arg)
c.3107A>G (p.Lys1036Arg)
c.4070A>G (p.Lys1357Arg)
1g.197088305T>GCA343997688ASPMn.3399A>C
c.10112A>C (p.Lys3371Thr)
c.10334A>C (p.Lys3445Thr)
c.10088A>C (p.Lys3363Thr)
c.5357A>C (p.Lys1786Thr)
c.3107A>C (p.Lys1036Thr)
c.4070A>C (p.Lys1357Thr)
 COSMIC
1g.197088306T>ACA343997696ASPMn.3398A>T
c.10111A>T (p.Lys3371Ter)
c.10333A>T (p.Lys3445Ter)
c.10087A>T (p.Lys3363Ter)
c.5356A>T (p.Lys1786Ter)
c.3106A>T (p.Lys1036Ter)
c.4069A>T (p.Lys1357Ter)
1g.197088306T>CCA343997699ASPMn.3398A>G
c.10111A>G (p.Lys3371Glu)
c.10333A>G (p.Lys3445Glu)
c.10087A>G (p.Lys3363Glu)
c.5356A>G (p.Lys1786Glu)
c.3106A>G (p.Lys1036Glu)
c.4069A>G (p.Lys1357Glu)
 dbSNP
1g.197088306T>GCA343997711ASPMn.3398A>C
c.10111A>C (p.Lys3371Gln)
c.10333A>C (p.Lys3445Gln)
c.10087A>C (p.Lys3363Gln)
c.5356A>C (p.Lys1786Gln)
c.3106A>C (p.Lys1036Gln)
c.4069A>C (p.Lys1357Gln)
1g.197088306T=CA1217923511ASPMn.3398A=
c.10111A= (p.Lys3371=)
c.10333A= (p.Lys3445=)
c.10087A= (p.Lys3363=)
c.5356A= (p.Lys1786=)
c.3106A= (p.Lys1036=)
c.4069A= (p.Lys1357=)
1g.197088307T>ACA422672173ASPMn.3397A>T
c.10110A>T (p.Thr3370=)
c.10332A>T (p.Thr3444=)
c.10086A>T (p.Thr3362=)
c.5355A>T (p.Thr1785=)
c.3105A>T (p.Thr1035=)
c.4068A>T (p.Thr1356=)
1g.197088307T>CCA422672174ASPMn.3397A>G
c.10110A>G (p.Thr3370=)
c.10332A>G (p.Thr3444=)
c.10086A>G (p.Thr3362=)
c.5355A>G (p.Thr1785=)
c.3105A>G (p.Thr1035=)
c.4068A>G (p.Thr1356=)
1g.197088307T>GCA422672175ASPMn.3397A>C
c.10110A>C (p.Thr3370=)
c.10332A>C (p.Thr3444=)
c.10086A>C (p.Thr3362=)
c.5355A>C (p.Thr1785=)
c.3105A>C (p.Thr1035=)
c.4068A>C (p.Thr1356=)
1g.197088308G>ACA343997712ASPMn.3396C>T
c.10109C>T (p.Thr3370Ile)
c.10331C>T (p.Thr3444Ile)
c.10085C>T (p.Thr3362Ile)
c.5354C>T (p.Thr1785Ile)
c.3104C>T (p.Thr1035Ile)
c.4067C>T (p.Thr1356Ile)
 gnomAD v4
1g.197088308G>CCA270991ASPMn.3396C>G
c.10109C>G (p.Thr3370Arg)
c.10331C>G (p.Thr3444Arg)
c.10085C>G (p.Thr3362Arg)
c.5354C>G (p.Thr1785Arg)
c.3104C>G (p.Thr1035Arg)
c.4067C>G (p.Thr1356Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197088308G=CA1148224795ASPMn.3396C=
c.10109C= (p.Thr3370=)
c.10331C= (p.Thr3444=)
c.10085C= (p.Thr3362=)
c.5354C= (p.Thr1785=)
c.3104C= (p.Thr1035=)
c.4067C= (p.Thr1356=)
1g.197088308G>TCA343997713ASPMn.3396C>A
c.10109C>A (p.Thr3370Lys)
c.10331C>A (p.Thr3444Lys)
c.10085C>A (p.Thr3362Lys)
c.5354C>A (p.Thr1785Lys)
c.3104C>A (p.Thr1035Lys)
c.4067C>A (p.Thr1356Lys)
1g.197088309T>ACA343997719ASPMn.3395A>T
c.10108A>T (p.Thr3370Ser)
c.10330A>T (p.Thr3444Ser)
c.10084A>T (p.Thr3362Ser)
c.5353A>T (p.Thr1785Ser)
c.3103A>T (p.Thr1035Ser)
c.4066A>T (p.Thr1356Ser)
1g.197088309T>CCA343997720ASPMn.3395A>G
c.10108A>G (p.Thr3370Ala)
c.10330A>G (p.Thr3444Ala)
c.10084A>G (p.Thr3362Ala)
c.5353A>G (p.Thr1785Ala)
c.3103A>G (p.Thr1035Ala)
c.4066A>G (p.Thr1356Ala)
 gnomAD v4
1g.197088309T>GCA343997723ASPMn.3395A>C
c.10108A>C (p.Thr3370Pro)
c.10330A>C (p.Thr3444Pro)
c.10084A>C (p.Thr3362Pro)
c.5353A>C (p.Thr1785Pro)
c.3103A>C (p.Thr1035Pro)
c.4066A>C (p.Thr1356Pro)
1g.197088310A=CA1217923516ASPMn.3394T=
c.10107T= (p.Phe3369=)
c.10329T= (p.Phe3443=)
c.10083T= (p.Phe3361=)
c.5352T= (p.Phe1784=)
c.3102T= (p.Phe1034=)
c.4065T= (p.Phe1355=)
1g.197088310A>CCA343997727ASPMn.3394T>G
c.10107T>G (p.Phe3369Leu)
c.10329T>G (p.Phe3443Leu)
c.10083T>G (p.Phe3361Leu)
c.5352T>G (p.Phe1784Leu)
c.3102T>G (p.Phe1034Leu)
c.4065T>G (p.Phe1355Leu)
1g.197088310A>GCA422672176ASPMn.3394T>C
c.10107T>C (p.Phe3369=)
c.10329T>C (p.Phe3443=)
c.10083T>C (p.Phe3361=)
c.5352T>C (p.Phe1784=)
c.3102T>C (p.Phe1034=)
c.4065T>C (p.Phe1355=)
 dbSNP
1g.197088310A>TCA343997728ASPMn.3394T>A
c.10107T>A (p.Phe3369Leu)
c.10329T>A (p.Phe3443Leu)
c.10083T>A (p.Phe3361Leu)
c.5352T>A (p.Phe1784Leu)
c.3102T>A (p.Phe1034Leu)
c.4065T>A (p.Phe1355Leu)
1g.197088314dupCA2649660431ASPMn.3394dup
c.10107dup (p.Thr3370TyrfsTer16)
c.10329dup (p.Thr3444TyrfsTer16)
c.10083dup (p.Thr3362TyrfsTer16)
c.5352dup (p.Thr1785TyrfsTer16)
c.3102dup (p.Thr1035TyrfsTer16)
c.4065dup (p.Thr1356TyrfsTer16)
 gnomAD v4
1g.197088311A=CA1217923517ASPMn.3393T=
c.10106T= (p.Phe3369=)
c.10328T= (p.Phe3443=)
c.10082T= (p.Phe3361=)
c.5351T= (p.Phe1784=)
c.3101T= (p.Phe1034=)
c.4064T= (p.Phe1355=)
1g.197088311A>CCA343997732ASPMn.3393T>G
c.10106T>G (p.Phe3369Cys)
c.10328T>G (p.Phe3443Cys)
c.10082T>G (p.Phe3361Cys)
c.5351T>G (p.Phe1784Cys)
c.3101T>G (p.Phe1034Cys)
c.4064T>G (p.Phe1355Cys)
1g.197088311A>GCA343997733ASPMn.3393T>C
c.10106T>C (p.Phe3369Ser)
c.10328T>C (p.Phe3443Ser)
c.10082T>C (p.Phe3361Ser)
c.5351T>C (p.Phe1784Ser)
c.3101T>C (p.Phe1034Ser)
c.4064T>C (p.Phe1355Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197088311A>TCA343997734ASPMn.3393T>A
c.10106T>A (p.Phe3369Tyr)
c.10328T>A (p.Phe3443Tyr)
c.10082T>A (p.Phe3361Tyr)
c.5351T>A (p.Phe1784Tyr)
c.3101T>A (p.Phe1034Tyr)
c.4064T>A (p.Phe1355Tyr)
 gnomAD v4
1g.197088312A>CCA343997735ASPMn.3392T>G
c.10105T>G (p.Phe3369Val)
c.10327T>G (p.Phe3443Val)
c.10081T>G (p.Phe3361Val)
c.5350T>G (p.Phe1784Val)
c.3100T>G (p.Phe1034Val)
c.4063T>G (p.Phe1355Val)
1g.197088312A>GCA343997737ASPMn.3392T>C
c.10105T>C (p.Phe3369Leu)
c.10327T>C (p.Phe3443Leu)
c.10081T>C (p.Phe3361Leu)
c.5350T>C (p.Phe1784Leu)
c.3100T>C (p.Phe1034Leu)
c.4063T>C (p.Phe1355Leu)
1g.197088312A>TCA343997738ASPMn.3392T>A
c.10105T>A (p.Phe3369Ile)
c.10327T>A (p.Phe3443Ile)
c.10081T>A (p.Phe3361Ile)
c.5350T>A (p.Phe1784Ile)
c.3100T>A (p.Phe1034Ile)
c.4063T>A (p.Phe1355Ile)
1g.197088313A>CCA343997739ASPMn.3391T>G
c.10104T>G (p.Ile3368Met)
c.10326T>G (p.Ile3442Met)
c.10080T>G (p.Ile3360Met)
c.5349T>G (p.Ile1783Met)
c.3099T>G (p.Ile1033Met)
c.4062T>G (p.Ile1354Met)
1g.197088313A>GCA422672177ASPMn.3391T>C
c.10104T>C (p.Ile3368=)
c.10326T>C (p.Ile3442=)
c.10080T>C (p.Ile3360=)
c.5349T>C (p.Ile1783=)
c.3099T>C (p.Ile1033=)
c.4062T>C (p.Ile1354=)
1g.197088313A>TCA422672178ASPMn.3391T>A
c.10104T>A (p.Ile3368=)
c.10326T>A (p.Ile3442=)
c.10080T>A (p.Ile3360=)
c.5349T>A (p.Ile1783=)
c.3099T>A (p.Ile1033=)
c.4062T>A (p.Ile1354=)
1g.197088314A>CCA343997747ASPMn.3390T>G
c.10103T>G (p.Ile3368Ser)
c.10325T>G (p.Ile3442Ser)
c.10079T>G (p.Ile3360Ser)
c.5348T>G (p.Ile1783Ser)
c.3098T>G (p.Ile1033Ser)
c.4061T>G (p.Ile1354Ser)
1g.197088314A>GCA343997742ASPMn.3390T>C
c.10103T>C (p.Ile3368Thr)
c.10325T>C (p.Ile3442Thr)
c.10079T>C (p.Ile3360Thr)
c.5348T>C (p.Ile1783Thr)
c.3098T>C (p.Ile1033Thr)
c.4061T>C (p.Ile1354Thr)
1g.197088314A>TCA343997749ASPMn.3390T>A
c.10103T>A (p.Ile3368Asn)
c.10325T>A (p.Ile3442Asn)
c.10079T>A (p.Ile3360Asn)
c.5348T>A (p.Ile1783Asn)
c.3098T>A (p.Ile1033Asn)
c.4061T>A (p.Ile1354Asn)
1g.197088315T>ACA343997755ASPMn.3389A>T
c.10102A>T (p.Ile3368Phe)
c.10324A>T (p.Ile3442Phe)
c.10078A>T (p.Ile3360Phe)
c.5347A>T (p.Ile1783Phe)
c.3097A>T (p.Ile1033Phe)
c.4060A>T (p.Ile1354Phe)
 dbSNP
1g.197088315T>CCA343997786ASPMn.3389A>G
c.10102A>G (p.Ile3368Val)
c.10324A>G (p.Ile3442Val)
c.10078A>G (p.Ile3360Val)
c.5347A>G (p.Ile1783Val)
c.3097A>G (p.Ile1033Val)
c.4060A>G (p.Ile1354Val)
1g.197088315T>GCA343997788ASPMn.3389A>C
c.10102A>C (p.Ile3368Leu)
c.10324A>C (p.Ile3442Leu)
c.10078A>C (p.Ile3360Leu)
c.5347A>C (p.Ile1783Leu)
c.3097A>C (p.Ile1033Leu)
c.4060A>C (p.Ile1354Leu)
1g.197088315T=CA1217923520ASPMn.3389A=
c.10102A= (p.Ile3368=)
c.10324A= (p.Ile3442=)
c.10078A= (p.Ile3360=)
c.5347A= (p.Ile1783=)
c.3097A= (p.Ile1033=)
c.4060A= (p.Ile1354=)
1g.197088316G>ACA422672179ASPMn.3388C>T
c.10101C>T (p.Ser3367=)
c.10323C>T (p.Ser3441=)
c.10077C>T (p.Ser3359=)
c.5346C>T (p.Ser1782=)
c.3096C>T (p.Ser1032=)
c.4059C>T (p.Ser1353=)
1g.197088316G>CCA343997795ASPMn.3388C>G
c.10101C>G (p.Ser3367Arg)
c.10323C>G (p.Ser3441Arg)
c.10077C>G (p.Ser3359Arg)
c.5346C>G (p.Ser1782Arg)
c.3096C>G (p.Ser1032Arg)
c.4059C>G (p.Ser1353Arg)
1g.197088316G>TCA343997813ASPMn.3388C>A
c.10101C>A (p.Ser3367Arg)
c.10323C>A (p.Ser3441Arg)
c.10077C>A (p.Ser3359Arg)
c.5346C>A (p.Ser1782Arg)
c.3096C>A (p.Ser1032Arg)
c.4059C>A (p.Ser1353Arg)
1g.197088317C>ACA343997831ASPMn.3387G>T
c.10100G>T (p.Ser3367Ile)
c.10322G>T (p.Ser3441Ile)
c.10076G>T (p.Ser3359Ile)
c.5345G>T (p.Ser1782Ile)
c.3095G>T (p.Ser1032Ile)
c.4058G>T (p.Ser1353Ile)
1g.197088317C=CA1148224797ASPMn.3387G=
c.10100G= (p.Ser3367=)
c.10322G= (p.Ser3441=)
c.10076G= (p.Ser3359=)
c.5345G= (p.Ser1782=)
c.3095G= (p.Ser1032=)
c.4058G= (p.Ser1353=)
1g.197088317C>GCA343997832ASPMn.3387G>C
c.10100G>C (p.Ser3367Thr)
c.10322G>C (p.Ser3441Thr)
c.10076G>C (p.Ser3359Thr)
c.5345G>C (p.Ser1782Thr)
c.3095G>C (p.Ser1032Thr)
c.4058G>C (p.Ser1353Thr)
1g.197088317C>TCA270989ASPMn.3387G>A
c.10100G>A (p.Ser3367Asn)
c.10322G>A (p.Ser3441Asn)
c.10076G>A (p.Ser3359Asn)
c.5345G>A (p.Ser1782Asn)
c.3095G>A (p.Ser1032Asn)
c.4058G>A (p.Ser1353Asn)
 ClinVar dbSNP gnomAD v4
1g.197088318T>ACA343997838ASPMn.3386A>T
c.10099A>T (p.Ser3367Cys)
c.10321A>T (p.Ser3441Cys)
c.10075A>T (p.Ser3359Cys)
c.5344A>T (p.Ser1782Cys)
c.3094A>T (p.Ser1032Cys)
c.4057A>T (p.Ser1353Cys)
1g.197088318T>CCA35861056ASPMn.3386A>G
c.10099A>G (p.Ser3367Gly)
c.10321A>G (p.Ser3441Gly)
c.10075A>G (p.Ser3359Gly)
c.5344A>G (p.Ser1782Gly)
c.3094A>G (p.Ser1032Gly)
c.4057A>G (p.Ser1353Gly)
 dbSNP
1g.197088318T>GCA343997841ASPMn.3386A>C
c.10099A>C (p.Ser3367Arg)
c.10321A>C (p.Ser3441Arg)
c.10075A>C (p.Ser3359Arg)
c.5344A>C (p.Ser1782Arg)
c.3094A>C (p.Ser1032Arg)
c.4057A>C (p.Ser1353Arg)
1g.197088318T=CA1217923529ASPMn.3386A=
c.10099A= (p.Ser3367=)
c.10321A= (p.Ser3441=)
c.10075A= (p.Ser3359=)
c.5344A= (p.Ser1782=)
c.3094A= (p.Ser1032=)
c.4057A= (p.Ser1353=)
1g.197088319T>ACA422672180ASPMn.3385A>T
c.10098A>T (p.Gly3366=)
c.10320A>T (p.Gly3440=)
c.10074A>T (p.Gly3358=)
c.5343A>T (p.Gly1781=)
c.3093A>T (p.Gly1031=)
c.4056A>T (p.Gly1352=)
 gnomAD v4
1g.197088319T>CCA422672181ASPMn.3385A>G
c.10098A>G (p.Gly3366=)
c.10320A>G (p.Gly3440=)
c.10074A>G (p.Gly3358=)
c.5343A>G (p.Gly1781=)
c.3093A>G (p.Gly1031=)
c.4056A>G (p.Gly1352=)
 dbSNP gnomAD v3 gnomAD v4
1g.197088319T>GCA422672182ASPMn.3385A>C
c.10098A>C (p.Gly3366=)
c.10320A>C (p.Gly3440=)
c.10074A>C (p.Gly3358=)
c.5343A>C (p.Gly1781=)
c.3093A>C (p.Gly1031=)
c.4056A>C (p.Gly1352=)
1g.197088319T=CA1217923531ASPMn.3385A=
c.10098A= (p.Gly3366=)
c.10320A= (p.Gly3440=)
c.10074A= (p.Gly3358=)
c.5343A= (p.Gly1781=)
c.3093A= (p.Gly1031=)
c.4056A= (p.Gly1352=)
1g.197088319_197088320delCA2586967834ASPMn.3384_3385del
c.10097_10098del (p.Gly3366GlufsTer19)
c.10319_10320del (p.Gly3440GlufsTer19)
c.10073_10074del (p.Gly3358GlufsTer19)
c.5342_5343del (p.Gly1781GlufsTer19)
c.3092_3093del (p.Gly1031GlufsTer19)
c.4055_4056del (p.Gly1352GlufsTer19)
1g.197088320C>ACA343997846ASPMn.3384G>T
c.10097G>T (p.Gly3366Val)
c.10319G>T (p.Gly3440Val)
c.10073G>T (p.Gly3358Val)
c.5342G>T (p.Gly1781Val)
c.3092G>T (p.Gly1031Val)
c.4055G>T (p.Gly1352Val)
1g.197088320C>GCA343997845ASPMn.3384G>C
c.10097G>C (p.Gly3366Ala)
c.10319G>C (p.Gly3440Ala)
c.10073G>C (p.Gly3358Ala)
c.5342G>C (p.Gly1781Ala)
c.3092G>C (p.Gly1031Ala)
c.4055G>C (p.Gly1352Ala)
1g.197088320C>TCA343997842ASPMn.3384G>A
c.10097G>A (p.Gly3366Glu)
c.10319G>A (p.Gly3440Glu)
c.10073G>A (p.Gly3358Glu)
c.5342G>A (p.Gly1781Glu)
c.3092G>A (p.Gly1031Glu)
c.4055G>A (p.Gly1352Glu)
1g.197088321C>ACA343997847ASPMn.3383G>T
c.10096G>T (p.Gly3366Ter)
c.10318G>T (p.Gly3440Ter)
c.10072G>T (p.Gly3358Ter)
c.5341G>T (p.Gly1781Ter)
c.3091G>T (p.Gly1031Ter)
c.4054G>T (p.Gly1352Ter)
1g.197088321C=CA1143498565ASPMn.3383G=
c.10096G= (p.Gly3366=)
c.10318G= (p.Gly3440=)
c.10072G= (p.Gly3358=)
c.5341G= (p.Gly1781=)
c.3091G= (p.Gly1031=)
c.4054G= (p.Gly1352=)
1g.197088321C>GCA343997849ASPMn.3383G>C
c.10096G>C (p.Gly3366Arg)
c.10318G>C (p.Gly3440Arg)
c.10072G>C (p.Gly3358Arg)
c.5341G>C (p.Gly1781Arg)
c.3091G>C (p.Gly1031Arg)
c.4054G>C (p.Gly1352Arg)
1g.197088321C>TCA1308795ASPMn.3383G>A
c.10096G>A (p.Gly3366Arg)
c.10318G>A (p.Gly3440Arg)
c.10072G>A (p.Gly3358Arg)
c.5341G>A (p.Gly1781Arg)
c.3091G>A (p.Gly1031Arg)
c.4054G>A (p.Gly1352Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197088322G>ACA10608698ASPMn.3382C>T
c.10095C>T (p.Gly3365=)
c.10317C>T (p.Gly3439=)
c.10071C>T (p.Gly3357=)
c.5340C>T (p.Gly1780=)
c.3090C>T (p.Gly1030=)
c.4053C>T (p.Gly1351=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197088322G>CCA422672183ASPMn.3382C>G
c.10095C>G (p.Gly3365=)
c.10317C>G (p.Gly3439=)
c.10071C>G (p.Gly3357=)
c.5340C>G (p.Gly1780=)
c.3090C>G (p.Gly1030=)
c.4053C>G (p.Gly1351=)
1g.197088322G=CA1217923540ASPMn.3382C=
c.10095C= (p.Gly3365=)
c.10317C= (p.Gly3439=)
c.10071C= (p.Gly3357=)
c.5340C= (p.Gly1780=)
c.3090C= (p.Gly1030=)
c.4053C= (p.Gly1351=)
1g.197088322G>TCA422672184ASPMn.3382C>A
c.10095C>A (p.Gly3365=)
c.10317C>A (p.Gly3439=)
c.10071C>A (p.Gly3357=)
c.5340C>A (p.Gly1780=)
c.3090C>A (p.Gly1030=)
c.4053C>A (p.Gly1351=)
1g.197088323C>ACA343997873ASPMn.3381G>T
c.10094G>T (p.Gly3365Val)
c.10316G>T (p.Gly3439Val)
c.10070G>T (p.Gly3357Val)
c.5339G>T (p.Gly1780Val)
c.3089G>T (p.Gly1030Val)
c.4052G>T (p.Gly1351Val)
1g.197088323C=CA1217923542ASPMn.3381G=
c.10094G= (p.Gly3365=)
c.10316G= (p.Gly3439=)
c.10070G= (p.Gly3357=)
c.5339G= (p.Gly1780=)
c.3089G= (p.Gly1030=)
c.4052G= (p.Gly1351=)
1g.197088323C>GCA343997874ASPMn.3381G>C
c.10094G>C (p.Gly3365Ala)
c.10316G>C (p.Gly3439Ala)
c.10070G>C (p.Gly3357Ala)
c.5339G>C (p.Gly1780Ala)
c.3089G>C (p.Gly1030Ala)
c.4052G>C (p.Gly1351Ala)
1g.197088323C>TCA1308796ASPMn.3381G>A
c.10094G>A (p.Gly3365Asp)
c.10316G>A (p.Gly3439Asp)
c.10070G>A (p.Gly3357Asp)
c.5339G>A (p.Gly1780Asp)
c.3089G>A (p.Gly1030Asp)
c.4052G>A (p.Gly1351Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197088324C>ACA343997877ASPMn.3380G>T
c.10093G>T (p.Gly3365Cys)
c.10315G>T (p.Gly3439Cys)
c.10069G>T (p.Gly3357Cys)
c.5338G>T (p.Gly1780Cys)
c.3088G>T (p.Gly1030Cys)
c.4051G>T (p.Gly1351Cys)
1g.197088324C>GCA343997899ASPMn.3380G>C
c.10093G>C (p.Gly3365Arg)
c.10315G>C (p.Gly3439Arg)
c.10069G>C (p.Gly3357Arg)
c.5338G>C (p.Gly1780Arg)
c.3088G>C (p.Gly1030Arg)
c.4051G>C (p.Gly1351Arg)
1g.197088324C>TCA343997904ASPMn.3380G>A
c.10093G>A (p.Gly3365Ser)
c.10315G>A (p.Gly3439Ser)
c.10069G>A (p.Gly3357Ser)
c.5338G>A (p.Gly1780Ser)
c.3088G>A (p.Gly1030Ser)
c.4051G>A (p.Gly1351Ser)
 gnomAD v4
1g.197088325T>ACA343997919ASPMn.3379A>T
c.10092A>T (p.Lys3364Asn)
c.10314A>T (p.Lys3438Asn)
c.10068A>T (p.Lys3356Asn)
c.5337A>T (p.Lys1779Asn)
c.3087A>T (p.Lys1029Asn)
c.4050A>T (p.Lys1350Asn)
1g.197088325T>CCA422672185ASPMn.3379A>G
c.10092A>G (p.Lys3364=)
c.10314A>G (p.Lys3438=)
c.10068A>G (p.Lys3356=)
c.5337A>G (p.Lys1779=)
c.3087A>G (p.Lys1029=)
c.4050A>G (p.Lys1350=)
 dbSNP gnomAD v2 gnomAD v4
1g.197088325T>GCA343997921ASPMn.3379A>C
c.10092A>C (p.Lys3364Asn)
c.10314A>C (p.Lys3438Asn)
c.10068A>C (p.Lys3356Asn)
c.5337A>C (p.Lys1779Asn)
c.3087A>C (p.Lys1029Asn)
c.4050A>C (p.Lys1350Asn)
1g.197088325T=CA1217923544ASPMn.3379A=
c.10092A= (p.Lys3364=)
c.10314A= (p.Lys3438=)
c.10068A= (p.Lys3356=)
c.5337A= (p.Lys1779=)
c.3087A= (p.Lys1029=)
c.4050A= (p.Lys1350=)
1g.197088326T>ACA343997941ASPMn.3378A>T
c.10091A>T (p.Lys3364Ile)
c.10313A>T (p.Lys3438Ile)
c.10067A>T (p.Lys3356Ile)
c.5336A>T (p.Lys1779Ile)
c.3086A>T (p.Lys1029Ile)
c.4049A>T (p.Lys1350Ile)
1g.197088326T>CCA343997944ASPMn.3378A>G
c.10091A>G (p.Lys3364Arg)
c.10313A>G (p.Lys3438Arg)
c.10067A>G (p.Lys3356Arg)
c.5336A>G (p.Lys1779Arg)
c.3086A>G (p.Lys1029Arg)
c.4049A>G (p.Lys1350Arg)
1g.197088326T>GCA343997924ASPMn.3378A>C
c.10091A>C (p.Lys3364Thr)
c.10313A>C (p.Lys3438Thr)
c.10067A>C (p.Lys3356Thr)
c.5336A>C (p.Lys1779Thr)
c.3086A>C (p.Lys1029Thr)
c.4049A>C (p.Lys1350Thr)
1g.197088327T>ACA343997949ASPMn.3377A>T
c.10090A>T (p.Lys3364Ter)
c.10312A>T (p.Lys3438Ter)
c.10066A>T (p.Lys3356Ter)
c.5335A>T (p.Lys1779Ter)
c.3085A>T (p.Lys1029Ter)
c.4048A>T (p.Lys1350Ter)
1g.197088327T>CCA1308797ASPMn.3377A>G
c.10090A>G (p.Lys3364Glu)
c.10312A>G (p.Lys3438Glu)
c.10066A>G (p.Lys3356Glu)
c.5335A>G (p.Lys1779Glu)
c.3085A>G (p.Lys1029Glu)
c.4048A>G (p.Lys1350Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197088327T>GCA343997955ASPMn.3377A>C
c.10090A>C (p.Lys3364Gln)
c.10312A>C (p.Lys3438Gln)
c.10066A>C (p.Lys3356Gln)
c.5335A>C (p.Lys1779Gln)
c.3085A>C (p.Lys1029Gln)
c.4048A>C (p.Lys1350Gln)
 gnomAD v4
1g.197088327T=CA1149061114ASPMn.3377A=
c.10090A= (p.Lys3364=)
c.10312A= (p.Lys3438=)
c.10066A= (p.Lys3356=)
c.5335A= (p.Lys1779=)
c.3085A= (p.Lys1029=)
c.4048A= (p.Lys1350=)
1g.197088328G>ACA422672186ASPMn.3376C>T
c.10089C>T (p.Asp3363=)
c.10311C>T (p.Asp3437=)
c.10065C>T (p.Asp3355=)
c.5334C>T (p.Asp1778=)
c.3084C>T (p.Asp1028=)
c.4047C>T (p.Asp1349=)
1g.197088328G>CCA343997956ASPMn.3376C>G
c.10089C>G (p.Asp3363Glu)
c.10311C>G (p.Asp3437Glu)
c.10065C>G (p.Asp3355Glu)
c.5334C>G (p.Asp1778Glu)
c.3084C>G (p.Asp1028Glu)
c.4047C>G (p.Asp1349Glu)
1g.197088328G>TCA343997957ASPMn.3376C>A
c.10089C>A (p.Asp3363Glu)
c.10311C>A (p.Asp3437Glu)
c.10065C>A (p.Asp3355Glu)
c.5334C>A (p.Asp1778Glu)
c.3084C>A (p.Asp1028Glu)
c.4047C>A (p.Asp1349Glu)
 gnomAD v4
1g.197088329T>ACA343997978ASPMn.3375A>T
c.10088A>T (p.Asp3363Val)
c.10310A>T (p.Asp3437Val)
c.10064A>T (p.Asp3355Val)
c.5333A>T (p.Asp1778Val)
c.3083A>T (p.Asp1028Val)
c.4046A>T (p.Asp1349Val)
1g.197088329T>CCA343997967ASPMn.3375A>G
c.10088A>G (p.Asp3363Gly)
c.10310A>G (p.Asp3437Gly)
c.10064A>G (p.Asp3355Gly)
c.5333A>G (p.Asp1778Gly)
c.3083A>G (p.Asp1028Gly)
c.4046A>G (p.Asp1349Gly)
1g.197088329T>GCA343997961ASPMn.3375A>C
c.10088A>C (p.Asp3363Ala)
c.10310A>C (p.Asp3437Ala)
c.10064A>C (p.Asp3355Ala)
c.5333A>C (p.Asp1778Ala)
c.3083A>C (p.Asp1028Ala)
c.4046A>C (p.Asp1349Ala)
1g.197088330C>ACA343997988ASPMn.3374G>T
c.10087G>T (p.Asp3363Tyr)
c.10309G>T (p.Asp3437Tyr)
c.10063G>T (p.Asp3355Tyr)
c.5332G>T (p.Asp1778Tyr)
c.3082G>T (p.Asp1028Tyr)
c.4045G>T (p.Asp1349Tyr)
 gnomAD v4
1g.197088330C>GCA343997989ASPMn.3374G>C
c.10087G>C (p.Asp3363His)
c.10309G>C (p.Asp3437His)
c.10063G>C (p.Asp3355His)
c.5332G>C (p.Asp1778His)
c.3082G>C (p.Asp1028His)
c.4045G>C (p.Asp1349His)
1g.197088330C>TCA343997990ASPMn.3374G>A
c.10087G>A (p.Asp3363Asn)
c.10309G>A (p.Asp3437Asn)
c.10063G>A (p.Asp3355Asn)
c.5332G>A (p.Asp1778Asn)
c.3082G>A (p.Asp1028Asn)
c.4045G>A (p.Asp1349Asn)
1g.197088331T>ACA422672187ASPMn.3373A>T
c.10086A>T (p.Ala3362=)
c.10308A>T (p.Ala3436=)
c.10062A>T (p.Ala3354=)
c.5331A>T (p.Ala1777=)
c.3081A>T (p.Ala1027=)
c.4044A>T (p.Ala1348=)
1g.197088331T>CCA422672188ASPMn.3373A>G
c.10086A>G (p.Ala3362=)
c.10308A>G (p.Ala3436=)
c.10062A>G (p.Ala3354=)
c.5331A>G (p.Ala1777=)
c.3081A>G (p.Ala1027=)
c.4044A>G (p.Ala1348=)
1g.197088331T>GCA422672189ASPMn.3373A>C
c.10086A>C (p.Ala3362=)
c.10308A>C (p.Ala3436=)
c.10062A>C (p.Ala3354=)
c.5331A>C (p.Ala1777=)
c.3081A>C (p.Ala1027=)
c.4044A>C (p.Ala1348=)
 dbSNP gnomAD v4
1g.197088331T=CA1217923547ASPMn.3373A=
c.10086A= (p.Ala3362=)
c.10308A= (p.Ala3436=)
c.10062A= (p.Ala3354=)
c.5331A= (p.Ala1777=)
c.3081A= (p.Ala1027=)
c.4044A= (p.Ala1348=)
1g.197088332G>ACA343997991ASPMn.3372C>T
c.10085C>T (p.Ala3362Val)
c.10307C>T (p.Ala3436Val)
c.10061C>T (p.Ala3354Val)
c.5330C>T (p.Ala1777Val)
c.3080C>T (p.Ala1027Val)
c.4043C>T (p.Ala1348Val)
1g.197088332G>CCA343997996ASPMn.3372C>G
c.10085C>G (p.Ala3362Gly)
c.10307C>G (p.Ala3436Gly)
c.10061C>G (p.Ala3354Gly)
c.5330C>G (p.Ala1777Gly)
c.3080C>G (p.Ala1027Gly)
c.4043C>G (p.Ala1348Gly)
1g.197088332G>TCA343997999ASPMn.3372C>A
c.10085C>A (p.Ala3362Glu)
c.10307C>A (p.Ala3436Glu)
c.10061C>A (p.Ala3354Glu)
c.5330C>A (p.Ala1777Glu)
c.3080C>A (p.Ala1027Glu)
c.4043C>A (p.Ala1348Glu)
1g.197088332_197088344delinsGCAACTTTATTACCA1217923549ASPMn.3360_3372delinsGTAATAAAGTTGC
c.10073_10085delinsGTAATAAAGTTGC (p.Gly3358=)
c.10295_10307delinsGTAATAAAGTTGC (p.Gly3432=)
c.10049_10061delinsGTAATAAAGTTGC (p.Gly3350=)
c.5318_5330delinsGTAATAAAGTTGC (p.Gly1773=)
c.3068_3080delinsGTAATAAAGTTGC (p.Gly1023=)
c.4031_4043delinsGTAATAAAGTTGC (p.Gly1344=)
1g.197088333C>ACA343998004ASPMn.3371G>T
c.10084G>T (p.Ala3362Ser)
c.10306G>T (p.Ala3436Ser)
c.10060G>T (p.Ala3354Ser)
c.5329G>T (p.Ala1777Ser)
c.3079G>T (p.Ala1027Ser)
c.4042G>T (p.Ala1348Ser)
1g.197088333C>GCA343998008ASPMn.3371G>C
c.10084G>C (p.Ala3362Pro)
c.10306G>C (p.Ala3436Pro)
c.10060G>C (p.Ala3354Pro)
c.5329G>C (p.Ala1777Pro)
c.3079G>C (p.Ala1027Pro)
c.4042G>C (p.Ala1348Pro)
1g.197088333C>TCA343998005ASPMn.3371G>A
c.10084G>A (p.Ala3362Thr)
c.10306G>A (p.Ala3436Thr)
c.10060G>A (p.Ala3354Thr)
c.5329G>A (p.Ala1777Thr)
c.3079G>A (p.Ala1027Thr)
c.4042G>A (p.Ala1348Thr)
 gnomAD v4
1g.197088335_197088346delCA528535061ASPMn.3360_3371del
c.10073_10084del (p.Gly3358_Val3361del)
c.10295_10306del (p.Gly3432_Val3435del)
c.10049_10060del (p.Gly3350_Val3353del)
c.5318_5329del (p.Gly1773_Val1776del)
c.3068_3079del (p.Gly1023_Val1026del)
c.4031_4042del (p.Gly1344_Val1347del)
 dbSNP gnomAD v2 gnomAD v4
1g.197088334A=CA1217923551ASPMn.3370T=
c.10083T= (p.Val3361=)
c.10305T= (p.Val3435=)
c.10059T= (p.Val3353=)
c.5328T= (p.Val1776=)
c.3078T= (p.Val1026=)
c.4041T= (p.Val1347=)
1g.197088334A>CCA422672190ASPMn.3370T>G
c.10083T>G (p.Val3361=)
c.10305T>G (p.Val3435=)
c.10059T>G (p.Val3353=)
c.5328T>G (p.Val1776=)
c.3078T>G (p.Val1026=)
c.4041T>G (p.Val1347=)
1g.197088334A>GCA1308798ASPMn.3370T>C
c.10083T>C (p.Val3361=)
c.10305T>C (p.Val3435=)
c.10059T>C (p.Val3353=)
c.5328T>C (p.Val1776=)
c.3078T>C (p.Val1026=)
c.4041T>C (p.Val1347=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197088334A>TCA422672191ASPMn.3370T>A
c.10083T>A (p.Val3361=)
c.10305T>A (p.Val3435=)
c.10059T>A (p.Val3353=)
c.5328T>A (p.Val1776=)
c.3078T>A (p.Val1026=)
c.4041T>A (p.Val1347=)
1g.197088335A>CCA343998016ASPMn.3369T>G
c.10082T>G (p.Val3361Gly)
c.10304T>G (p.Val3435Gly)
c.10058T>G (p.Val3353Gly)
c.5327T>G (p.Val1776Gly)
c.3077T>G (p.Val1026Gly)
c.4040T>G (p.Val1347Gly)
1g.197088335A>GCA343998022ASPMn.3369T>C
c.10082T>C (p.Val3361Ala)
c.10304T>C (p.Val3435Ala)
c.10058T>C (p.Val3353Ala)
c.5327T>C (p.Val1776Ala)
c.3077T>C (p.Val1026Ala)
c.4040T>C (p.Val1347Ala)
1g.197088335A>TCA343998032ASPMn.3369T>A
c.10082T>A (p.Val3361Asp)
c.10304T>A (p.Val3435Asp)
c.10058T>A (p.Val3353Asp)
c.5327T>A (p.Val1776Asp)
c.3077T>A (p.Val1026Asp)
c.4040T>A (p.Val1347Asp)
1g.197088336C>ACA343998036ASPMn.3368G>T
c.10081G>T (p.Val3361Phe)
c.10303G>T (p.Val3435Phe)
c.10057G>T (p.Val3353Phe)
c.5326G>T (p.Val1776Phe)
c.3076G>T (p.Val1026Phe)
c.4039G>T (p.Val1347Phe)
1g.197088336C>GCA343998039ASPMn.3368G>C
c.10081G>C (p.Val3361Leu)
c.10303G>C (p.Val3435Leu)
c.10057G>C (p.Val3353Leu)
c.5326G>C (p.Val1776Leu)
c.3076G>C (p.Val1026Leu)
c.4039G>C (p.Val1347Leu)
1g.197088336C>TCA343998047ASPMn.3368G>A
c.10081G>A (p.Val3361Ile)
c.10303G>A (p.Val3435Ile)
c.10057G>A (p.Val3353Ile)
c.5326G>A (p.Val1776Ile)
c.3076G>A (p.Val1026Ile)
c.4039G>A (p.Val1347Ile)
1g.197088337T>ACA343998057ASPMn.3367A>T
c.10080A>T (p.Lys3360Asn)
c.10302A>T (p.Lys3434Asn)
c.10056A>T (p.Lys3352Asn)
c.5325A>T (p.Lys1775Asn)
c.3075A>T (p.Lys1025Asn)
c.4038A>T (p.Lys1346Asn)
1g.197088337T>CCA422672192ASPMn.3367A>G
c.10080A>G (p.Lys3360=)
c.10302A>G (p.Lys3434=)
c.10056A>G (p.Lys3352=)
c.5325A>G (p.Lys1775=)
c.3075A>G (p.Lys1025=)
c.4038A>G (p.Lys1346=)
1g.197088337T>GCA343998059ASPMn.3367A>C
c.10080A>C (p.Lys3360Asn)
c.10302A>C (p.Lys3434Asn)
c.10056A>C (p.Lys3352Asn)
c.5325A>C (p.Lys1775Asn)
c.3075A>C (p.Lys1025Asn)
c.4038A>C (p.Lys1346Asn)
1g.197088339delCA2573629508ASPMn.3367del
c.10080del (p.Val3361LeufsTer20)
c.10302del (p.Val3435LeufsTer20)
c.10056del (p.Val3353LeufsTer20)
c.5325del (p.Val1776LeufsTer20)
c.3075del (p.Val1026LeufsTer20)
c.4038del (p.Val1347LeufsTer20)
1g.197088338T>ACA343998063ASPMn.3366A>T
c.10079A>T (p.Lys3360Ile)
c.10301A>T (p.Lys3434Ile)
c.10055A>T (p.Lys3352Ile)
c.5324A>T (p.Lys1775Ile)
c.3074A>T (p.Lys1025Ile)
c.4037A>T (p.Lys1346Ile)
 gnomAD v4 COSMIC
1g.197088338T>CCA343998066ASPMn.3366A>G
c.10079A>G (p.Lys3360Arg)
c.10301A>G (p.Lys3434Arg)
c.10055A>G (p.Lys3352Arg)
c.5324A>G (p.Lys1775Arg)
c.3074A>G (p.Lys1025Arg)
c.4037A>G (p.Lys1346Arg)
1g.197088338T>GCA343998071ASPMn.3366A>C
c.10079A>C (p.Lys3360Thr)
c.10301A>C (p.Lys3434Thr)
c.10055A>C (p.Lys3352Thr)
c.5324A>C (p.Lys1775Thr)
c.3074A>C (p.Lys1025Thr)
c.4037A>C (p.Lys1346Thr)
1g.197088339T>ACA343998074ASPMn.3365A>T
c.10078A>T (p.Lys3360Ter)
c.10300A>T (p.Lys3434Ter)
c.10054A>T (p.Lys3352Ter)
c.5323A>T (p.Lys1775Ter)
c.3073A>T (p.Lys1025Ter)
c.4036A>T (p.Lys1346Ter)
 gnomAD v4
1g.197088339T>CCA343998080ASPMn.3365A>G
c.10078A>G (p.Lys3360Glu)
c.10300A>G (p.Lys3434Glu)
c.10054A>G (p.Lys3352Glu)
c.5323A>G (p.Lys1775Glu)
c.3073A>G (p.Lys1025Glu)
c.4036A>G (p.Lys1346Glu)
1g.197088339T>GCA343998077ASPMn.3365A>C
c.10078A>C (p.Lys3360Gln)
c.10300A>C (p.Lys3434Gln)
c.10054A>C (p.Lys3352Gln)
c.5323A>C (p.Lys1775Gln)
c.3073A>C (p.Lys1025Gln)
c.4036A>C (p.Lys1346Gln)
1g.197088340A>CCA343998085ASPMn.3364T>G
c.10077T>G (p.Asn3359Lys)
c.10299T>G (p.Asn3433Lys)
c.10053T>G (p.Asn3351Lys)
c.5322T>G (p.Asn1774Lys)
c.3072T>G (p.Asn1024Lys)
c.4035T>G (p.Asn1345Lys)
1g.197088340A>GCA422672193ASPMn.3364T>C
c.10077T>C (p.Asn3359=)
c.10299T>C (p.Asn3433=)
c.10053T>C (p.Asn3351=)
c.5322T>C (p.Asn1774=)
c.3072T>C (p.Asn1024=)
c.4035T>C (p.Asn1345=)
1g.197088340A>TCA343998088ASPMn.3364T>A
c.10077T>A (p.Asn3359Lys)
c.10299T>A (p.Asn3433Lys)
c.10053T>A (p.Asn3351Lys)
c.5322T>A (p.Asn1774Lys)
c.3072T>A (p.Asn1024Lys)
c.4035T>A (p.Asn1345Lys)
1g.197088341T>ACA343998095ASPMn.3363A>T
c.10076A>T (p.Asn3359Ile)
c.10298A>T (p.Asn3433Ile)
c.10052A>T (p.Asn3351Ile)
c.5321A>T (p.Asn1774Ile)
c.3071A>T (p.Asn1024Ile)
c.4034A>T (p.Asn1345Ile)
1g.197088341T>CCA343998103ASPMn.3363A>G
c.10076A>G (p.Asn3359Ser)
c.10298A>G (p.Asn3433Ser)
c.10052A>G (p.Asn3351Ser)
c.5321A>G (p.Asn1774Ser)
c.3071A>G (p.Asn1024Ser)
c.4034A>G (p.Asn1345Ser)
1g.197088341T>GCA343998099ASPMn.3363A>C
c.10076A>C (p.Asn3359Thr)
c.10298A>C (p.Asn3433Thr)
c.10052A>C (p.Asn3351Thr)
c.5321A>C (p.Asn1774Thr)
c.3071A>C (p.Asn1024Thr)
c.4034A>C (p.Asn1345Thr)
1g.197088342T>ACA343998110ASPMn.3362A>T
c.10075A>T (p.Asn3359Tyr)
c.10297A>T (p.Asn3433Tyr)
c.10051A>T (p.Asn3351Tyr)
c.5320A>T (p.Asn1774Tyr)
c.3070A>T (p.Asn1024Tyr)
c.4033A>T (p.Asn1345Tyr)
1g.197088342T>CCA343998122ASPMn.3362A>G
c.10075A>G (p.Asn3359Asp)
c.10297A>G (p.Asn3433Asp)
c.10051A>G (p.Asn3351Asp)
c.5320A>G (p.Asn1774Asp)
c.3070A>G (p.Asn1024Asp)
c.4033A>G (p.Asn1345Asp)
 COSMIC
1g.197088342T>GCA343998116ASPMn.3362A>C
c.10075A>C (p.Asn3359His)
c.10297A>C (p.Asn3433His)
c.10051A>C (p.Asn3351His)
c.5320A>C (p.Asn1774His)
c.3070A>C (p.Asn1024His)
c.4033A>C (p.Asn1345His)
1g.197088343A>CCA422672194ASPMn.3361T>G
c.10074T>G (p.Gly3358=)
c.10296T>G (p.Gly3432=)
c.10050T>G (p.Gly3350=)
c.5319T>G (p.Gly1773=)
c.3069T>G (p.Gly1023=)
c.4032T>G (p.Gly1344=)
1g.197088343A>GCA422672195ASPMn.3361T>C
c.10074T>C (p.Gly3358=)
c.10296T>C (p.Gly3432=)
c.10050T>C (p.Gly3350=)
c.5319T>C (p.Gly1773=)
c.3069T>C (p.Gly1023=)
c.4032T>C (p.Gly1344=)
 gnomAD v4
1g.197088343A>TCA422672196ASPMn.3361T>A
c.10074T>A (p.Gly3358=)
c.10296T>A (p.Gly3432=)
c.10050T>A (p.Gly3350=)
c.5319T>A (p.Gly1773=)
c.3069T>A (p.Gly1023=)
c.4032T>A (p.Gly1344=)
1g.197088344C>ACA343998128ASPMn.3360G>T
c.10073G>T (p.Gly3358Val)
c.10295G>T (p.Gly3432Val)
c.10049G>T (p.Gly3350Val)
c.5318G>T (p.Gly1773Val)
c.3068G>T (p.Gly1023Val)
c.4031G>T (p.Gly1344Val)
1g.197088344C>GCA343998130ASPMn.3360G>C
c.10073G>C (p.Gly3358Ala)
c.10295G>C (p.Gly3432Ala)
c.10049G>C (p.Gly3350Ala)
c.5318G>C (p.Gly1773Ala)
c.3068G>C (p.Gly1023Ala)
c.4031G>C (p.Gly1344Ala)
1g.197088344C>TCA343998133ASPMn.3360G>A
c.10073G>A (p.Gly3358Asp)
c.10295G>A (p.Gly3432Asp)
c.10049G>A (p.Gly3350Asp)
c.5318G>A (p.Gly1773Asp)
c.3068G>A (p.Gly1023Asp)
c.4031G>A (p.Gly1344Asp)
 gnomAD v4
1g.197088345C>ACA343998137ASPMn.3359G>T
c.10072G>T (p.Gly3358Cys)
c.10294G>T (p.Gly3432Cys)
c.10048G>T (p.Gly3350Cys)
c.5317G>T (p.Gly1773Cys)
c.3067G>T (p.Gly1023Cys)
c.4030G>T (p.Gly1344Cys)
1g.197088345C>GCA343998147ASPMn.3359G>C
c.10072G>C (p.Gly3358Arg)
c.10294G>C (p.Gly3432Arg)
c.10048G>C (p.Gly3350Arg)
c.5317G>C (p.Gly1773Arg)
c.3067G>C (p.Gly1023Arg)
c.4030G>C (p.Gly1344Arg)
1g.197088345C>TCA343998151ASPMn.3359G>A
c.10072G>A (p.Gly3358Ser)
c.10294G>A (p.Gly3432Ser)
c.10048G>A (p.Gly3350Ser)
c.5317G>A (p.Gly1773Ser)
c.3067G>A (p.Gly1023Ser)
c.4030G>A (p.Gly1344Ser)
1g.197088346A>CCA422672199ASPMn.3358T>G
c.10071T>G (p.Pro3357=)
c.10293T>G (p.Pro3431=)
c.10047T>G (p.Pro3349=)
c.5316T>G (p.Pro1772=)
c.3066T>G (p.Pro1022=)
c.4029T>G (p.Pro1343=)
1g.197088346A>GCA422672198ASPMn.3358T>C
c.10071T>C (p.Pro3357=)
c.10293T>C (p.Pro3431=)
c.10047T>C (p.Pro3349=)
c.5316T>C (p.Pro1772=)
c.3066T>C (p.Pro1022=)
c.4029T>C (p.Pro1343=)
1g.197088346A>TCA422672197ASPMn.3358T>A
c.10071T>A (p.Pro3357=)
c.10293T>A (p.Pro3431=)
c.10047T>A (p.Pro3349=)
c.5316T>A (p.Pro1772=)
c.3066T>A (p.Pro1022=)
c.4029T>A (p.Pro1343=)
1g.197088347G>ACA343998153ASPMn.3357C>T
c.10070C>T (p.Pro3357Leu)
c.10292C>T (p.Pro3431Leu)
c.10046C>T (p.Pro3349Leu)
c.5315C>T (p.Pro1772Leu)
c.3065C>T (p.Pro1022Leu)
c.4028C>T (p.Pro1343Leu)
1g.197088347G>CCA343998156ASPMn.3357C>G
c.10070C>G (p.Pro3357Arg)
c.10292C>G (p.Pro3431Arg)
c.10046C>G (p.Pro3349Arg)
c.5315C>G (p.Pro1772Arg)
c.3065C>G (p.Pro1022Arg)
c.4028C>G (p.Pro1343Arg)
1g.197088347G>TCA343998160ASPMn.3357C>A
c.10070C>A (p.Pro3357His)
c.10292C>A (p.Pro3431His)
c.10046C>A (p.Pro3349His)
c.5315C>A (p.Pro1772His)
c.3065C>A (p.Pro1022His)
c.4028C>A (p.Pro1343His)
1g.197088348G>ACA343998164ASPMn.3356C>T
c.10069C>T (p.Pro3357Ser)
c.10291C>T (p.Pro3431Ser)
c.10045C>T (p.Pro3349Ser)
c.5314C>T (p.Pro1772Ser)
c.3064C>T (p.Pro1022Ser)
c.4027C>T (p.Pro1343Ser)
 dbSNP
1g.197088348G>CCA343998167ASPMn.3356C>G
c.10069C>G (p.Pro3357Ala)
c.10291C>G (p.Pro3431Ala)
c.10045C>G (p.Pro3349Ala)
c.5314C>G (p.Pro1772Ala)
c.3064C>G (p.Pro1022Ala)
c.4027C>G (p.Pro1343Ala)
1g.197088348G=CA1217923552ASPMn.3356C=
c.10069C= (p.Pro3357=)
c.10291C= (p.Pro3431=)
c.10045C= (p.Pro3349=)
c.5314C= (p.Pro1772=)
c.3064C= (p.Pro1022=)
c.4027C= (p.Pro1343=)
1g.197088348G>TCA343998175ASPMn.3356C>A
c.10069C>A (p.Pro3357Thr)
c.10291C>A (p.Pro3431Thr)
c.10045C>A (p.Pro3349Thr)
c.5314C>A (p.Pro1772Thr)
c.3064C>A (p.Pro1022Thr)
c.4027C>A (p.Pro1343Thr)
 gnomAD v4
1g.197088349C>ACA343998181ASPMn.3355G>T
c.10068G>T (p.Lys3356Asn)
c.10290G>T (p.Lys3430Asn)
c.10044G>T (p.Lys3348Asn)
c.5313G>T (p.Lys1771Asn)
c.3063G>T (p.Lys1021Asn)
c.4026G>T (p.Lys1342Asn)
1g.197088349C>GCA343998178ASPMn.3355G>C
c.10068G>C (p.Lys3356Asn)
c.10290G>C (p.Lys3430Asn)
c.10044G>C (p.Lys3348Asn)
c.5313G>C (p.Lys1771Asn)
c.3063G>C (p.Lys1021Asn)
c.4026G>C (p.Lys1342Asn)
1g.197088349C>TCA422672200ASPMn.3355G>A
c.10068G>A (p.Lys3356=)
c.10290G>A (p.Lys3430=)
c.10044G>A (p.Lys3348=)
c.5313G>A (p.Lys1771=)
c.3063G>A (p.Lys1021=)
c.4026G>A (p.Lys1342=)
1g.197088350T>ACA343998185ASPMn.3354A>T
c.10067A>T (p.Lys3356Met)
c.10289A>T (p.Lys3430Met)
c.10043A>T (p.Lys3348Met)
c.5312A>T (p.Lys1771Met)
c.3062A>T (p.Lys1021Met)
c.4025A>T (p.Lys1342Met)
1g.197088350T>CCA343998186ASPMn.3354A>G
c.10067A>G (p.Lys3356Arg)
c.10289A>G (p.Lys3430Arg)
c.10043A>G (p.Lys3348Arg)
c.5312A>G (p.Lys1771Arg)
c.3062A>G (p.Lys1021Arg)
c.4025A>G (p.Lys1342Arg)
1g.197088350T>GCA343998187ASPMn.3354A>C
c.10067A>C (p.Lys3356Thr)
c.10289A>C (p.Lys3430Thr)
c.10043A>C (p.Lys3348Thr)
c.5312A>C (p.Lys1771Thr)
c.3062A>C (p.Lys1021Thr)
c.4025A>C (p.Lys1342Thr)
1g.197088351T>ACA343998190ASPMn.3353A>T
c.10066A>T (p.Lys3356Ter)
c.10288A>T (p.Lys3430Ter)
c.10042A>T (p.Lys3348Ter)
c.5311A>T (p.Lys1771Ter)
c.3061A>T (p.Lys1021Ter)
c.4024A>T (p.Lys1342Ter)
1g.197088351T>CCA343998192ASPMn.3353A>G
c.10066A>G (p.Lys3356Glu)
c.10288A>G (p.Lys3430Glu)
c.10042A>G (p.Lys3348Glu)
c.5311A>G (p.Lys1771Glu)
c.3061A>G (p.Lys1021Glu)
c.4024A>G (p.Lys1342Glu)
1g.197088351T>GCA343998202ASPMn.3353A>C
c.10066A>C (p.Lys3356Gln)
c.10288A>C (p.Lys3430Gln)
c.10042A>C (p.Lys3348Gln)
c.5311A>C (p.Lys1771Gln)
c.3061A>C (p.Lys1021Gln)
c.4024A>C (p.Lys1342Gln)
1g.197088352T>ACA343998210ASPMn.3352A>T
c.10065A>T (p.Glu3355Asp)
c.10287A>T (p.Glu3429Asp)
c.10041A>T (p.Glu3347Asp)
c.5310A>T (p.Glu1770Asp)
c.3060A>T (p.Glu1020Asp)
c.4023A>T (p.Glu1341Asp)
1g.197088352T>CCA422672201ASPMn.3352A>G
c.10065A>G (p.Glu3355=)
c.10287A>G (p.Glu3429=)
c.10041A>G (p.Glu3347=)
c.5310A>G (p.Glu1770=)
c.3060A>G (p.Glu1020=)
c.4023A>G (p.Glu1341=)
1g.197088352T>GCA343998213ASPMn.3352A>C
c.10065A>C (p.Glu3355Asp)
c.10287A>C (p.Glu3429Asp)
c.10041A>C (p.Glu3347Asp)
c.5310A>C (p.Glu1770Asp)
c.3060A>C (p.Glu1020Asp)
c.4023A>C (p.Glu1341Asp)
1g.197088353T>ACA343998217ASPMn.3351A>T
c.10064A>T (p.Glu3355Val)
c.10286A>T (p.Glu3429Val)
c.10040A>T (p.Glu3347Val)
c.5309A>T (p.Glu1770Val)
c.3059A>T (p.Glu1020Val)
c.4022A>T (p.Glu1341Val)
1g.197088353T>CCA343998233ASPMn.3351A>G
c.10064A>G (p.Glu3355Gly)
c.10286A>G (p.Glu3429Gly)
c.10040A>G (p.Glu3347Gly)
c.5309A>G (p.Glu1770Gly)
c.3059A>G (p.Glu1020Gly)
c.4022A>G (p.Glu1341Gly)
1g.197088353T>GCA343998235ASPMn.3351A>C
c.10064A>C (p.Glu3355Ala)
c.10286A>C (p.Glu3429Ala)
c.10040A>C (p.Glu3347Ala)
c.5309A>C (p.Glu1770Ala)
c.3059A>C (p.Glu1020Ala)
c.4022A>C (p.Glu1341Ala)
1g.197088354C>ACA343998250ASPMn.3350G>T
c.10063G>T (p.Glu3355Ter)
c.10285G>T (p.Glu3429Ter)
c.10039G>T (p.Glu3347Ter)
c.5308G>T (p.Glu1770Ter)
c.3058G>T (p.Glu1020Ter)
c.4021G>T (p.Glu1341Ter)
 gnomAD v4
1g.197088354C>GCA343998242ASPMn.3350G>C
c.10063G>C (p.Glu3355Gln)
c.10285G>C (p.Glu3429Gln)
c.10039G>C (p.Glu3347Gln)
c.5308G>C (p.Glu1770Gln)
c.3058G>C (p.Glu1020Gln)
c.4021G>C (p.Glu1341Gln)
 dbSNP
1g.197088354C>TCA343998240ASPMn.3350G>A
c.10063G>A (p.Glu3355Lys)
c.10285G>A (p.Glu3429Lys)
c.10039G>A (p.Glu3347Lys)
c.5308G>A (p.Glu1770Lys)
c.3058G>A (p.Glu1020Lys)
c.4021G>A (p.Glu1341Lys)
1g.197088355T>ACA422672202ASPMn.3349A>T
c.10062A>T (p.Arg3354=)
c.10284A>T (p.Arg3428=)
c.10038A>T (p.Arg3346=)
c.5307A>T (p.Arg1769=)
c.3057A>T (p.Arg1019=)
c.4020A>T (p.Arg1340=)
1g.197088355T>CCA422672203ASPMn.3349A>G
c.10062A>G (p.Arg3354=)
c.10284A>G (p.Arg3428=)
c.10038A>G (p.Arg3346=)
c.5307A>G (p.Arg1769=)
c.3057A>G (p.Arg1019=)
c.4020A>G (p.Arg1340=)
1g.197088355T>GCA422672204ASPMn.3349A>C
c.10062A>C (p.Arg3354=)
c.10284A>C (p.Arg3428=)
c.10038A>C (p.Arg3346=)
c.5307A>C (p.Arg1769=)
c.3057A>C (p.Arg1019=)
c.4020A>C (p.Arg1340=)
 dbSNP
1g.197088355T=CA1217923553ASPMn.3349A=
c.10062A= (p.Arg3354=)
c.10284A= (p.Arg3428=)
c.10038A= (p.Arg3346=)
c.5307A= (p.Arg1769=)
c.3057A= (p.Arg1019=)
c.4020A= (p.Arg1340=)
1g.197088356C>ACA343998253ASPMn.3348G>T
c.10061G>T (p.Arg3354Leu)
c.10283G>T (p.Arg3428Leu)
c.10037G>T (p.Arg3346Leu)
c.5306G>T (p.Arg1769Leu)
c.3056G>T (p.Arg1019Leu)
c.4019G>T (p.Arg1340Leu)
1g.197088356C=CA1145048603ASPMn.3348G=
c.10061G= (p.Arg3354=)
c.10283G= (p.Arg3428=)
c.10037G= (p.Arg3346=)
c.5306G= (p.Arg1769=)
c.3056G= (p.Arg1019=)
c.4019G= (p.Arg1340=)
1g.197088356C>GCA343998258ASPMn.3348G>C
c.10061G>C (p.Arg3354Pro)
c.10283G>C (p.Arg3428Pro)
c.10037G>C (p.Arg3346Pro)
c.5306G>C (p.Arg1769Pro)
c.3056G>C (p.Arg1019Pro)
c.4019G>C (p.Arg1340Pro)
1g.197088356C>TCA1308799ASPMn.3348G>A
c.10061G>A (p.Arg3354Gln)
c.10283G>A (p.Arg3428Gln)
c.10037G>A (p.Arg3346Gln)
c.5306G>A (p.Arg1769Gln)
c.3056G>A (p.Arg1019Gln)
c.4019G>A (p.Arg1340Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197088357G>ACA277313ASPMn.3347C>T
c.10060C>T (p.Arg3354Ter)
c.10282C>T (p.Arg3428Ter)
c.10036C>T (p.Arg3346Ter)
c.5305C>T (p.Arg1769Ter)
c.3055C>T (p.Arg1019Ter)
c.4018C>T (p.Arg1340Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197088357G>CCA343998266ASPMn.3347C>G
c.10060C>G (p.Arg3354Gly)
c.10282C>G (p.Arg3428Gly)
c.10036C>G (p.Arg3346Gly)
c.5305C>G (p.Arg1769Gly)
c.3055C>G (p.Arg1019Gly)
c.4018C>G (p.Arg1340Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.197088357G=CA1148890069ASPMn.3347C=
c.10060C= (p.Arg3354=)
c.10282C= (p.Arg3428=)
c.10036C= (p.Arg3346=)
c.5305C= (p.Arg1769=)
c.3055C= (p.Arg1019=)
c.4018C= (p.Arg1340=)
1g.197088357G>TCA422672205ASPMn.3347C>A
c.10060C>A (p.Arg3354=)
c.10282C>A (p.Arg3428=)
c.10036C>A (p.Arg3346=)
c.5305C>A (p.Arg1769=)
c.3055C>A (p.Arg1019=)
c.4018C>A (p.Arg1340=)
1g.197088358G>ACA422672206ASPMn.3346C>T
c.10059C>T (p.Tyr3353=)
c.10281C>T (p.Tyr3427=)
c.10035C>T (p.Tyr3345=)
c.5304C>T (p.Tyr1768=)
c.3054C>T (p.Tyr1018=)
c.4017C>T (p.Tyr1339=)
1g.197088358G>CCA343998269ASPMn.3346C>G
c.10059C>G (p.Tyr3353Ter)
c.10281C>G (p.Tyr3427Ter)
c.10035C>G (p.Tyr3345Ter)
c.5304C>G (p.Tyr1768Ter)
c.3054C>G (p.Tyr1018Ter)
c.4017C>G (p.Tyr1339Ter)
1g.197088358G=CA1143355779ASPMn.3346C=
c.10059C= (p.Tyr3353=)
c.10281C= (p.Tyr3427=)
c.10035C= (p.Tyr3345=)
c.5304C= (p.Tyr1768=)
c.3054C= (p.Tyr1018=)
c.4017C= (p.Tyr1339=)
1g.197088358G>TCA342211ASPMn.3346C>A
c.10059C>A (p.Tyr3353Ter)
c.10281C>A (p.Tyr3427Ter)
c.10035C>A (p.Tyr3345Ter)
c.5304C>A (p.Tyr1768Ter)
c.3054C>A (p.Tyr1018Ter)
c.4017C>A (p.Tyr1339Ter)
 ClinVar dbSNP
1g.197088359T>ACA343998277ASPMn.3345A>T
c.10058A>T (p.Tyr3353Phe)
c.10280A>T (p.Tyr3427Phe)
c.10034A>T (p.Tyr3345Phe)
c.5303A>T (p.Tyr1768Phe)
c.3053A>T (p.Tyr1018Phe)
c.4016A>T (p.Tyr1339Phe)
1g.197088359T>CCA343998285ASPMn.3345A>G
c.10058A>G (p.Tyr3353Cys)
c.10280A>G (p.Tyr3427Cys)
c.10034A>G (p.Tyr3345Cys)
c.5303A>G (p.Tyr1768Cys)
c.3053A>G (p.Tyr1018Cys)
c.4016A>G (p.Tyr1339Cys)
1g.197088359T>GCA343998282ASPMn.3345A>C
c.10058A>C (p.Tyr3353Ser)
c.10280A>C (p.Tyr3427Ser)
c.10034A>C (p.Tyr3345Ser)
c.5303A>C (p.Tyr1768Ser)
c.3053A>C (p.Tyr1018Ser)
c.4016A>C (p.Tyr1339Ser)
1g.197088362_197088363delCA2649660432ASPMn.3344_3345del
c.10057_10058del (p.Tyr3353ProfsTer6)
c.10279_10280del (p.Tyr3427ProfsTer6)
c.10033_10034del (p.Tyr3345ProfsTer6)
c.5302_5303del (p.Tyr1768ProfsTer6)
c.3052_3053del (p.Tyr1018ProfsTer6)
c.4015_4016del (p.Tyr1339ProfsTer6)
 gnomAD v4
1g.197088360A=CA1141792598ASPMn.3344T=
c.10057T= (p.Tyr3353=)
c.10279T= (p.Tyr3427=)
c.10033T= (p.Tyr3345=)
c.5302T= (p.Tyr1768=)
c.3052T= (p.Tyr1018=)
c.4015T= (p.Tyr1339=)
1g.197088360A>CCA343998288ASPMn.3344T>G
c.10057T>G (p.Tyr3353Asp)
c.10279T>G (p.Tyr3427Asp)
c.10033T>G (p.Tyr3345Asp)
c.5302T>G (p.Tyr1768Asp)
c.3052T>G (p.Tyr1018Asp)
c.4015T>G (p.Tyr1339Asp)
1g.197088360A>GCA1308800ASPMn.3344T>C
c.10057T>C (p.Tyr3353His)
c.10279T>C (p.Tyr3427His)
c.10033T>C (p.Tyr3345His)
c.5302T>C (p.Tyr1768His)
c.3052T>C (p.Tyr1018His)
c.4015T>C (p.Tyr1339His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197088360A>TCA343998293ASPMn.3344T>A
c.10057T>A (p.Tyr3353Asn)
c.10279T>A (p.Tyr3427Asn)
c.10033T>A (p.Tyr3345Asn)
c.5302T>A (p.Tyr1768Asn)
c.3052T>A (p.Tyr1018Asn)
c.4015T>A (p.Tyr1339Asn)
1g.197088361T>ACA422672208ASPMn.3343A>T
c.10056A>T (p.Ile3352=)
c.10278A>T (p.Ile3426=)
c.10032A>T (p.Ile3344=)
c.5301A>T (p.Ile1767=)
c.3051A>T (p.Ile1017=)
c.4014A>T (p.Ile1338=)
1g.197088361T>CCA1308801ASPMn.3343A>G
c.10056A>G (p.Ile3352Met)
c.10278A>G (p.Ile3426Met)
c.10032A>G (p.Ile3344Met)
c.5301A>G (p.Ile1767Met)
c.3051A>G (p.Ile1017Met)
c.4014A>G (p.Ile1338Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197088361T>GCA422672207ASPMn.3343A>C
c.10056A>C (p.Ile3352=)
c.10278A>C (p.Ile3426=)
c.10032A>C (p.Ile3344=)
c.5301A>C (p.Ile1767=)
c.3051A>C (p.Ile1017=)
c.4014A>C (p.Ile1338=)
1g.197088361T=CA1217923561ASPMn.3343A=
c.10056A= (p.Ile3352=)
c.10278A= (p.Ile3426=)
c.10032A= (p.Ile3344=)
c.5301A= (p.Ile1767=)
c.3051A= (p.Ile1017=)
c.4014A= (p.Ile1338=)
1g.197088361_197088362insCCCA1308802ASPMn.3342_3343insGG
c.10055_10056insGG (p.Ile3352MetfsTer30)
c.10277_10278insGG (p.Ile3426MetfsTer30)
c.10031_10032insGG (p.Ile3344MetfsTer30)
c.5300_5301insGG (p.Ile1767MetfsTer30)
c.3050_3051insGG (p.Ile1017MetfsTer30)
c.4013_4014insGG (p.Ile1338MetfsTer30)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197088362A>CCA343998313ASPMn.3342T>G
c.10055T>G (p.Ile3352Arg)
c.10277T>G (p.Ile3426Arg)
c.10031T>G (p.Ile3344Arg)
c.5300T>G (p.Ile1767Arg)
c.3050T>G (p.Ile1017Arg)
c.4013T>G (p.Ile1338Arg)
1g.197088362A>GCA343998310ASPMn.3342T>C
c.10055T>C (p.Ile3352Thr)
c.10277T>C (p.Ile3426Thr)
c.10031T>C (p.Ile3344Thr)
c.5300T>C (p.Ile1767Thr)
c.3050T>C (p.Ile1017Thr)
c.4013T>C (p.Ile1338Thr)
1g.197088362A>TCA343998303ASPMn.3342T>A
c.10055T>A (p.Ile3352Lys)
c.10277T>A (p.Ile3426Lys)
c.10031T>A (p.Ile3344Lys)
c.5300T>A (p.Ile1767Lys)
c.3050T>A (p.Ile1017Lys)
c.4013T>A (p.Ile1338Lys)
1g.197088363T>ACA343998318ASPMn.3341A>T
c.10054A>T (p.Ile3352Leu)
c.10276A>T (p.Ile3426Leu)
c.10030A>T (p.Ile3344Leu)
c.5299A>T (p.Ile1767Leu)
c.3049A>T (p.Ile1017Leu)
c.4012A>T (p.Ile1338Leu)
1g.197088363T>CCA343998320ASPMn.3341A>G
c.10054A>G (p.Ile3352Val)
c.10276A>G (p.Ile3426Val)
c.10030A>G (p.Ile3344Val)
c.5299A>G (p.Ile1767Val)
c.3049A>G (p.Ile1017Val)
c.4012A>G (p.Ile1338Val)
 gnomAD v4
1g.197088363T>GCA343998323ASPMn.3341A>C
c.10054A>C (p.Ile3352Leu)
c.10276A>C (p.Ile3426Leu)
c.10030A>C (p.Ile3344Leu)
c.5299A>C (p.Ile1767Leu)
c.3049A>C (p.Ile1017Leu)
c.4012A>C (p.Ile1338Leu)
1g.197088364C>ACA343998328ASPMn.3340G>T
c.10053G>T (p.Gln3351His)
c.10275G>T (p.Gln3425His)
c.10029G>T (p.Gln3343His)
c.5298G>T (p.Gln1766His)
c.3048G>T (p.Gln1016His)
c.4011G>T (p.Gln1337His)
1g.197088364C=CA1148465974ASPMn.3340G=
c.10053G= (p.Gln3351=)
c.10275G= (p.Gln3425=)
c.10029G= (p.Gln3343=)
c.5298G= (p.Gln1766=)
c.3048G= (p.Gln1016=)
c.4011G= (p.Gln1337=)
1g.197088364C>GCA343998332ASPMn.3340G>C
c.10053G>C (p.Gln3351His)
c.10275G>C (p.Gln3425His)
c.10029G>C (p.Gln3343His)
c.5298G>C (p.Gln1766His)
c.3048G>C (p.Gln1016His)
c.4011G>C (p.Gln1337His)
 COSMIC
1g.197088364C>TCA1308803ASPMn.3340G>A
c.10053G>A (p.Gln3351=)
c.10275G>A (p.Gln3425=)
c.10029G>A (p.Gln3343=)
c.5298G>A (p.Gln1766=)
c.3048G>A (p.Gln1016=)
c.4011G>A (p.Gln1337=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197088365T>ACA343998333ASPMn.3339A>T
c.10052A>T (p.Gln3351Leu)
c.10274A>T (p.Gln3425Leu)
c.10028A>T (p.Gln3343Leu)
c.5297A>T (p.Gln1766Leu)
c.3047A>T (p.Gln1016Leu)
c.4010A>T (p.Gln1337Leu)
1g.197088365T>CCA343998335ASPMn.3339A>G
c.10052A>G (p.Gln3351Arg)
c.10274A>G (p.Gln3425Arg)
c.10028A>G (p.Gln3343Arg)
c.5297A>G (p.Gln1766Arg)
c.3047A>G (p.Gln1016Arg)
c.4010A>G (p.Gln1337Arg)
1g.197088365T>GCA343998339ASPMn.3339A>C
c.10052A>C (p.Gln3351Pro)
c.10274A>C (p.Gln3425Pro)
c.10028A>C (p.Gln3343Pro)
c.5297A>C (p.Gln1766Pro)
c.3047A>C (p.Gln1016Pro)
c.4010A>C (p.Gln1337Pro)
1g.197088366G>ACA343998352ASPMn.3338C>T
c.10051C>T (p.Gln3351Ter)
c.10273C>T (p.Gln3425Ter)
c.10027C>T (p.Gln3343Ter)
c.5296C>T (p.Gln1766Ter)
c.3046C>T (p.Gln1016Ter)
c.4009C>T (p.Gln1337Ter)
1g.197088366G>CCA343998347ASPMn.3338C>G
c.10051C>G (p.Gln3351Glu)
c.10273C>G (p.Gln3425Glu)
c.10027C>G (p.Gln3343Glu)
c.5296C>G (p.Gln1766Glu)
c.3046C>G (p.Gln1016Glu)
c.4009C>G (p.Gln1337Glu)
1g.197088366G>TCA343998344ASPMn.3338C>A
c.10051C>A (p.Gln3351Lys)
c.10273C>A (p.Gln3425Lys)
c.10027C>A (p.Gln3343Lys)
c.5296C>A (p.Gln1766Lys)
c.3046C>A (p.Gln1016Lys)
c.4009C>A (p.Gln1337Lys)
1g.197088367C>ACA343998354ASPMn.3337G>T
c.10050G>T (p.Leu3350Phe)
c.10272G>T (p.Leu3424Phe)
c.10026G>T (p.Leu3342Phe)
c.5295G>T (p.Leu1765Phe)
c.3045G>T (p.Leu1015Phe)
c.4008G>T (p.Leu1336Phe)
1g.197088367C=CA1217923566ASPMn.3337G=
c.10050G= (p.Leu3350=)
c.10272G= (p.Leu3424=)
c.10026G= (p.Leu3342=)
c.5295G= (p.Leu1765=)
c.3045G= (p.Leu1015=)
c.4008G= (p.Leu1336=)
1g.197088367C>GCA343998357ASPMn.3337G>C
c.10050G>C (p.Leu3350Phe)
c.10272G>C (p.Leu3424Phe)
c.10026G>C (p.Leu3342Phe)
c.5295G>C (p.Leu1765Phe)
c.3045G>C (p.Leu1015Phe)
c.4008G>C (p.Leu1336Phe)
1g.197088367C>TCA35861089ASPMn.3337G>A
c.10050G>A (p.Leu3350=)
c.10272G>A (p.Leu3424=)
c.10026G>A (p.Leu3342=)
c.5295G>A (p.Leu1765=)
c.3045G>A (p.Leu1015=)
c.4008G>A (p.Leu1336=)
 dbSNP
1g.197088368A>CCA343998362ASPMn.3336T>G
c.10049T>G (p.Leu3350Trp)
c.10271T>G (p.Leu3424Trp)
c.10025T>G (p.Leu3342Trp)
c.5294T>G (p.Leu1765Trp)
c.3044T>G (p.Leu1015Trp)
c.4007T>G (p.Leu1336Trp)
1g.197088368A>GCA343998373ASPMn.3336T>C
c.10049T>C (p.Leu3350Ser)
c.10271T>C (p.Leu3424Ser)
c.10025T>C (p.Leu3342Ser)
c.5294T>C (p.Leu1765Ser)
c.3044T>C (p.Leu1015Ser)
c.4007T>C (p.Leu1336Ser)
1g.197088368A>TCA343998386ASPMn.3336T>A
c.10049T>A (p.Leu3350Ter)
c.10271T>A (p.Leu3424Ter)
c.10025T>A (p.Leu3342Ter)
c.5294T>A (p.Leu1765Ter)
c.3044T>A (p.Leu1015Ter)
c.4007T>A (p.Leu1336Ter)
1g.197088371delCA2649660433ASPMn.3336del
c.10049del (p.Leu3350CysfsTer?)
c.10271del (p.Leu3424CysfsTer?)
c.10025del (p.Leu3342CysfsTer?)
c.5294del (p.Leu1765CysfsTer?)
c.3044del (p.Leu1015CysfsTer?)
c.4007del (p.Leu1336CysfsTer?)
 gnomAD v4
1g.197088369A>CCA343998397ASPMn.3335T>G
c.10048T>G (p.Leu3350Val)
c.10270T>G (p.Leu3424Val)
c.10024T>G (p.Leu3342Val)
c.5293T>G (p.Leu1765Val)
c.3043T>G (p.Leu1015Val)
c.4006T>G (p.Leu1336Val)
1g.197088369A>GCA422672209ASPMn.3335T>C
c.10048T>C (p.Leu3350=)
c.10270T>C (p.Leu3424=)
c.10024T>C (p.Leu3342=)
c.5293T>C (p.Leu1765=)
c.3043T>C (p.Leu1015=)
c.4006T>C (p.Leu1336=)
1g.197088369A>TCA343998399ASPMn.3335T>A
c.10048T>A (p.Leu3350Met)
c.10270T>A (p.Leu3424Met)
c.10024T>A (p.Leu3342Met)
c.5293T>A (p.Leu1765Met)
c.3043T>A (p.Leu1015Met)
c.4006T>A (p.Leu1336Met)
1g.197088370A>CCA422672210ASPMn.3334T>G
c.10047T>G (p.Leu3349=)
c.10269T>G (p.Leu3423=)
c.10023T>G (p.Leu3341=)
c.5292T>G (p.Leu1764=)
c.3042T>G (p.Leu1014=)
c.4005T>G (p.Leu1335=)
1g.197088370A>GCA422672211ASPMn.3334T>C
c.10047T>C (p.Leu3349=)
c.10269T>C (p.Leu3423=)
c.10023T>C (p.Leu3341=)
c.5292T>C (p.Leu1764=)
c.3042T>C (p.Leu1014=)
c.4005T>C (p.Leu1335=)
1g.197088370A>TCA422672212ASPMn.3334T>A
c.10047T>A (p.Leu3349=)
c.10269T>A (p.Leu3423=)
c.10023T>A (p.Leu3341=)
c.5292T>A (p.Leu1764=)
c.3042T>A (p.Leu1014=)
c.4005T>A (p.Leu1335=)
1g.197088371A>CCA343998409ASPMn.3333T>G
c.10046T>G (p.Leu3349Arg)
c.10268T>G (p.Leu3423Arg)
c.10022T>G (p.Leu3341Arg)
c.5291T>G (p.Leu1764Arg)
c.3041T>G (p.Leu1014Arg)
c.4004T>G (p.Leu1335Arg)
1g.197088371A>GCA343998407ASPMn.3333T>C
c.10046T>C (p.Leu3349Pro)
c.10268T>C (p.Leu3423Pro)
c.10022T>C (p.Leu3341Pro)
c.5291T>C (p.Leu1764Pro)
c.3041T>C (p.Leu1014Pro)
c.4004T>C (p.Leu1335Pro)
1g.197088371A>TCA343998408ASPMn.3333T>A
c.10046T>A (p.Leu3349His)
c.10268T>A (p.Leu3423His)
c.10022T>A (p.Leu3341His)
c.5291T>A (p.Leu1764His)
c.3041T>A (p.Leu1014His)
c.4004T>A (p.Leu1335His)
1g.197088372G>ACA343998410ASPMn.3332C>T
c.10045C>T (p.Leu3349Phe)
c.10267C>T (p.Leu3423Phe)
c.10021C>T (p.Leu3341Phe)
c.5290C>T (p.Leu1764Phe)
c.3040C>T (p.Leu1014Phe)
c.4003C>T (p.Leu1335Phe)
1g.197088372G>CCA343998411ASPMn.3332C>G
c.10045C>G (p.Leu3349Val)
c.10267C>G (p.Leu3423Val)
c.10021C>G (p.Leu3341Val)
c.5290C>G (p.Leu1764Val)
c.3040C>G (p.Leu1014Val)
c.4003C>G (p.Leu1335Val)
 dbSNP gnomAD v2 gnomAD v4
1g.197088372G=CA1217923568ASPMn.3332C=
c.10045C= (p.Leu3349=)
c.10267C= (p.Leu3423=)
c.10021C= (p.Leu3341=)
c.5290C= (p.Leu1764=)
c.3040C= (p.Leu1014=)
c.4003C= (p.Leu1335=)
1g.197088372G>TCA343998414ASPMn.3332C>A
c.10045C>A (p.Leu3349Ile)
c.10267C>A (p.Leu3423Ile)
c.10021C>A (p.Leu3341Ile)
c.5290C>A (p.Leu1764Ile)
c.3040C>A (p.Leu1014Ile)
c.4003C>A (p.Leu1335Ile)
1g.197088373C>ACA343998418ASPMn.3331G>T
c.10044G>T (p.Glu3348Asp)
c.10266G>T (p.Glu3422Asp)
c.10020G>T (p.Glu3340Asp)
c.5289G>T (p.Glu1763Asp)
c.3039G>T (p.Glu1013Asp)
c.4002G>T (p.Glu1334Asp)
 dbSNP
1g.197088373C=CA1217923570ASPMn.3331G=
c.10044G= (p.Glu3348=)
c.10266G= (p.Glu3422=)
c.10020G= (p.Glu3340=)
c.5289G= (p.Glu1763=)
c.3039G= (p.Glu1013=)
c.4002G= (p.Glu1334=)
1g.197088373C>GCA343998420ASPMn.3331G>C
c.10044G>C (p.Glu3348Asp)
c.10266G>C (p.Glu3422Asp)
c.10020G>C (p.Glu3340Asp)
c.5289G>C (p.Glu1763Asp)
c.3039G>C (p.Glu1013Asp)
c.4002G>C (p.Glu1334Asp)
1g.197088373C>TCA422672213ASPMn.3331G>A
c.10044G>A (p.Glu3348=)
c.10266G>A (p.Glu3422=)
c.10020G>A (p.Glu3340=)
c.5289G>A (p.Glu1763=)
c.3039G>A (p.Glu1013=)
c.4002G>A (p.Glu1334=)
1g.197088374T>ACA343998423ASPMn.3330A>T
c.10043A>T (p.Glu3348Val)
c.10265A>T (p.Glu3422Val)
c.10019A>T (p.Glu3340Val)
c.5288A>T (p.Glu1763Val)
c.3038A>T (p.Glu1013Val)
c.4001A>T (p.Glu1334Val)
1g.197088374T>CCA343998432ASPMn.3330A>G
c.10043A>G (p.Glu3348Gly)
c.10265A>G (p.Glu3422Gly)
c.10019A>G (p.Glu3340Gly)
c.5288A>G (p.Glu1763Gly)
c.3038A>G (p.Glu1013Gly)
c.4001A>G (p.Glu1334Gly)
 gnomAD v4
1g.197088374T>GCA343998428ASPMn.3330A>C
c.10043A>C (p.Glu3348Ala)
c.10265A>C (p.Glu3422Ala)
c.10019A>C (p.Glu3340Ala)
c.5288A>C (p.Glu1763Ala)
c.3038A>C (p.Glu1013Ala)
c.4001A>C (p.Glu1334Ala)
1g.197088375C>ACA343998436ASPMn.3329G>T
c.10042G>T (p.Glu3348Ter)
c.10264G>T (p.Glu3422Ter)
c.10018G>T (p.Glu3340Ter)
c.5287G>T (p.Glu1763Ter)
c.3037G>T (p.Glu1013Ter)
c.4000G>T (p.Glu1334Ter)
1g.197088375C>GCA343998439ASPMn.3329G>C
c.10042G>C (p.Glu3348Gln)
c.10264G>C (p.Glu3422Gln)
c.10018G>C (p.Glu3340Gln)
c.5287G>C (p.Glu1763Gln)
c.3037G>C (p.Glu1013Gln)
c.4000G>C (p.Glu1334Gln)
1g.197088375C>TCA343998443ASPMn.3329G>A
c.10042G>A (p.Glu3348Lys)
c.10264G>A (p.Glu3422Lys)
c.10018G>A (p.Glu3340Lys)
c.5287G>A (p.Glu1763Lys)
c.3037G>A (p.Glu1013Lys)
c.4000G>A (p.Glu1334Lys)
1g.197088376C>ACA343998446ASPMn.3328G>T
c.10041G>T (p.Leu3347Phe)
c.10263G>T (p.Leu3421Phe)
c.10017G>T (p.Leu3339Phe)
c.5286G>T (p.Leu1762Phe)
c.3036G>T (p.Leu1012Phe)
c.3999G>T (p.Leu1333Phe)
1g.197088376C=CA1143210877ASPMn.3328G=
c.10041G= (p.Leu3347=)
c.10263G= (p.Leu3421=)
c.10017G= (p.Leu3339=)
c.5286G= (p.Leu1762=)
c.3036G= (p.Leu1012=)
c.3999G= (p.Leu1333=)
1g.197088376C>GCA343998449ASPMn.3328G>C
c.10041G>C (p.Leu3347Phe)
c.10263G>C (p.Leu3421Phe)
c.10017G>C (p.Leu3339Phe)
c.5286G>C (p.Leu1762Phe)
c.3036G>C (p.Leu1012Phe)
c.3999G>C (p.Leu1333Phe)
1g.197088376C>TCA1308804ASPMn.3328G>A
c.10041G>A (p.Leu3347=)
c.10263G>A (p.Leu3421=)
c.10017G>A (p.Leu3339=)
c.5286G>A (p.Leu1762=)
c.3036G>A (p.Leu1012=)
c.3999G>A (p.Leu1333=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197088377A>CCA343998463ASPMn.3327T>G
c.10040T>G (p.Leu3347Trp)
c.10262T>G (p.Leu3421Trp)
c.10016T>G (p.Leu3339Trp)
c.5285T>G (p.Leu1762Trp)
c.3035T>G (p.Leu1012Trp)
c.3998T>G (p.Leu1333Trp)
1g.197088377A>GCA343998484ASPMn.3327T>C
c.10040T>C (p.Leu3347Ser)
c.10262T>C (p.Leu3421Ser)
c.10016T>C (p.Leu3339Ser)
c.5285T>C (p.Leu1762Ser)
c.3035T>C (p.Leu1012Ser)
c.3998T>C (p.Leu1333Ser)
 gnomAD v4
1g.197088377A>TCA343998491ASPMn.3327T>A
c.10040T>A (p.Leu3347Ter)
c.10262T>A (p.Leu3421Ter)
c.10016T>A (p.Leu3339Ter)
c.5285T>A (p.Leu1762Ter)
c.3035T>A (p.Leu1012Ter)
c.3998T>A (p.Leu1333Ter)
1g.197088378A=CA1217923574ASPMn.3326T=
c.10039T= (p.Leu3347=)
c.10261T= (p.Leu3421=)
c.10015T= (p.Leu3339=)
c.5284T= (p.Leu1762=)
c.3034T= (p.Leu1012=)
c.3997T= (p.Leu1333=)
1g.197088378A>CCA343998495ASPMn.3326T>G
c.10039T>G (p.Leu3347Val)
c.10261T>G (p.Leu3421Val)
c.10015T>G (p.Leu3339Val)
c.5284T>G (p.Leu1762Val)
c.3034T>G (p.Leu1012Val)
c.3997T>G (p.Leu1333Val)
1g.197088378A>GCA10608701ASPMn.3326T>C
c.10039T>C (p.Leu3347=)
c.10261T>C (p.Leu3421=)
c.10015T>C (p.Leu3339=)
c.5284T>C (p.Leu1762=)
c.3034T>C (p.Leu1012=)
c.3997T>C (p.Leu1333=)
 ClinVar dbSNP gnomAD v4
1g.197088378A>TCA343998506ASPMn.3326T>A
c.10039T>A (p.Leu3347Met)
c.10261T>A (p.Leu3421Met)
c.10015T>A (p.Leu3339Met)
c.5284T>A (p.Leu1762Met)
c.3034T>A (p.Leu1012Met)
c.3997T>A (p.Leu1333Met)
1g.197088379T>ACA422672215ASPMn.3325A>T
c.10038A>T (p.Leu3346=)
c.10260A>T (p.Leu3420=)
c.10014A>T (p.Leu3338=)
c.5283A>T (p.Leu1761=)
c.3033A>T (p.Leu1011=)
c.3996A>T (p.Leu1332=)
1g.197088379T>CCA422672216ASPMn.3325A>G
c.10038A>G (p.Leu3346=)
c.10260A>G (p.Leu3420=)
c.10014A>G (p.Leu3338=)
c.5283A>G (p.Leu1761=)
c.3033A>G (p.Leu1011=)
c.3996A>G (p.Leu1332=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197088379T>GCA422672217ASPMn.3325A>C
c.10038A>C (p.Leu3346=)
c.10260A>C (p.Leu3420=)
c.10014A>C (p.Leu3338=)
c.5283A>C (p.Leu1761=)
c.3033A>C (p.Leu1011=)
c.3996A>C (p.Leu1332=)
1g.197088379T=CA1217923576ASPMn.3325A=
c.10038A= (p.Leu3346=)
c.10260A= (p.Leu3420=)
c.10014A= (p.Leu3338=)
c.5283A= (p.Leu1761=)
c.3033A= (p.Leu1011=)
c.3996A= (p.Leu1332=)
1g.197088380A>CCA343998511ASPMn.3324T>G
c.10037T>G (p.Leu3346Arg)
c.10259T>G (p.Leu3420Arg)
c.10013T>G (p.Leu3338Arg)
c.5282T>G (p.Leu1761Arg)
c.3032T>G (p.Leu1011Arg)
c.3995T>G (p.Leu1332Arg)
1g.197088380A>GCA343998516ASPMn.3324T>C
c.10037T>C (p.Leu3346Pro)
c.10259T>C (p.Leu3420Pro)
c.10013T>C (p.Leu3338Pro)
c.5282T>C (p.Leu1761Pro)
c.3032T>C (p.Leu1011Pro)
c.3995T>C (p.Leu1332Pro)
 gnomAD v4
1g.197088380A>TCA343998513ASPMn.3324T>A
c.10037T>A (p.Leu3346Gln)
c.10259T>A (p.Leu3420Gln)
c.10013T>A (p.Leu3338Gln)
c.5282T>A (p.Leu1761Gln)
c.3032T>A (p.Leu1011Gln)
c.3995T>A (p.Leu1332Gln)
1g.197088381G>ACA422672218ASPMn.3323C>T
c.10036C>T (p.Leu3346=)
c.10258C>T (p.Leu3420=)
c.10012C>T (p.Leu3338=)
c.5281C>T (p.Leu1761=)
c.3031C>T (p.Leu1011=)
c.3994C>T (p.Leu1332=)
1g.197088381G>CCA343998525ASPMn.3323C>G
c.10036C>G (p.Leu3346Val)
c.10258C>G (p.Leu3420Val)
c.10012C>G (p.Leu3338Val)
c.5281C>G (p.Leu1761Val)
c.3031C>G (p.Leu1011Val)
c.3994C>G (p.Leu1332Val)
 dbSNP gnomAD v2 gnomAD v4
1g.197088381G=CA1217923579ASPMn.3323C=
c.10036C= (p.Leu3346=)
c.10258C= (p.Leu3420=)
c.10012C= (p.Leu3338=)
c.5281C= (p.Leu1761=)
c.3031C= (p.Leu1011=)
c.3994C= (p.Leu1332=)
1g.197088381G>TCA343998527ASPMn.3323C>A
c.10036C>A (p.Leu3346Ile)
c.10258C>A (p.Leu3420Ile)
c.10012C>A (p.Leu3338Ile)
c.5281C>A (p.Leu1761Ile)
c.3031C>A (p.Leu1011Ile)
c.3994C>A (p.Leu1332Ile)
1g.197088382T>ACA422672219ASPMn.3322A>T
c.10035A>T (p.Ile3345=)
c.10257A>T (p.Ile3419=)
c.10011A>T (p.Ile3337=)
c.5280A>T (p.Ile1760=)
c.3030A>T (p.Ile1010=)
c.3993A>T (p.Ile1331=)
1g.197088382T>CCA343998528ASPMn.3322A>G
c.10035A>G (p.Ile3345Met)
c.10257A>G (p.Ile3419Met)
c.10011A>G (p.Ile3337Met)
c.5280A>G (p.Ile1760Met)
c.3030A>G (p.Ile1010Met)
c.3993A>G (p.Ile1331Met)
1g.197088382T>GCA422672220ASPMn.3322A>C
c.10035A>C (p.Ile3345=)
c.10257A>C (p.Ile3419=)
c.10011A>C (p.Ile3337=)
c.5280A>C (p.Ile1760=)
c.3030A>C (p.Ile1010=)
c.3993A>C (p.Ile1331=)
1g.197088383A=CA1217923580ASPMn.3321T=
c.10034T= (p.Ile3345=)
c.10256T= (p.Ile3419=)
c.10010T= (p.Ile3337=)
c.5279T= (p.Ile1760=)
c.3029T= (p.Ile1010=)
c.3992T= (p.Ile1331=)
1g.197088383A>CCA343998529ASPMn.3321T>G
c.10034T>G (p.Ile3345Arg)
c.10256T>G (p.Ile3419Arg)
c.10010T>G (p.Ile3337Arg)
c.5279T>G (p.Ile1760Arg)
c.3029T>G (p.Ile1010Arg)
c.3992T>G (p.Ile1331Arg)
1g.197088383A>GCA343998532ASPMn.3321T>C
c.10034T>C (p.Ile3345Thr)
c.10256T>C (p.Ile3419Thr)
c.10010T>C (p.Ile3337Thr)
c.5279T>C (p.Ile1760Thr)
c.3029T>C (p.Ile1010Thr)
c.3992T>C (p.Ile1331Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197088383A>TCA343998535ASPMn.3321T>A
c.10034T>A (p.Ile3345Lys)
c.10256T>A (p.Ile3419Lys)
c.10010T>A (p.Ile3337Lys)
c.5279T>A (p.Ile1760Lys)
c.3029T>A (p.Ile1010Lys)
c.3992T>A (p.Ile1331Lys)
 ClinVar dbSNP gnomAD v4
1g.197088384delCA2573629514ASPMn.3320del
c.10033del (p.Ile3345TyrfsTer?)
c.10255del (p.Ile3419TyrfsTer?)
c.10009del (p.Ile3337TyrfsTer?)
c.5278del (p.Ile1760TyrfsTer?)
c.3028del (p.Ile1010TyrfsTer?)
c.3991del (p.Ile1331TyrfsTer?)
1g.197088384T>ACA343998539ASPMn.3320A>T
c.10033A>T (p.Ile3345Leu)
c.10255A>T (p.Ile3419Leu)
c.10009A>T (p.Ile3337Leu)
c.5278A>T (p.Ile1760Leu)
c.3028A>T (p.Ile1010Leu)
c.3991A>T (p.Ile1331Leu)
1g.197088384T>CCA343998541ASPMn.3320A>G
c.10033A>G (p.Ile3345Val)
c.10255A>G (p.Ile3419Val)
c.10009A>G (p.Ile3337Val)
c.5278A>G (p.Ile1760Val)
c.3028A>G (p.Ile1010Val)
c.3991A>G (p.Ile1331Val)
1g.197088384T>GCA343998549ASPMn.3320A>C
c.10033A>C (p.Ile3345Leu)
c.10255A>C (p.Ile3419Leu)
c.10009A>C (p.Ile3337Leu)
c.5278A>C (p.Ile1760Leu)
c.3028A>C (p.Ile1010Leu)
c.3991A>C (p.Ile1331Leu)
1g.197088385A>CCA343998552ASPMn.3319T>G
c.10032T>G (p.Asp3344Glu)
c.10254T>G (p.Asp3418Glu)
c.10008T>G (p.Asp3336Glu)
c.5277T>G (p.Asp1759Glu)
c.3027T>G (p.Asp1009Glu)
c.3990T>G (p.Asp1330Glu)
1g.197088385A>GCA422672221ASPMn.3319T>C
c.10032T>C (p.Asp3344=)
c.10254T>C (p.Asp3418=)
c.10008T>C (p.Asp3336=)
c.5277T>C (p.Asp1759=)
c.3027T>C (p.Asp1009=)
c.3990T>C (p.Asp1330=)
1g.197088385A>TCA343998553ASPMn.3319T>A
c.10032T>A (p.Asp3344Glu)
c.10254T>A (p.Asp3418Glu)
c.10008T>A (p.Asp3336Glu)
c.5277T>A (p.Asp1759Glu)
c.3027T>A (p.Asp1009Glu)
c.3990T>A (p.Asp1330Glu)
1g.197088386T>ACA343998557ASPMn.3318A>T
c.10031A>T (p.Asp3344Val)
c.10253A>T (p.Asp3418Val)
c.10007A>T (p.Asp3336Val)
c.5276A>T (p.Asp1759Val)
c.3026A>T (p.Asp1009Val)
c.3989A>T (p.Asp1330Val)
1g.197088386T>CCA343998556ASPMn.3318A>G
c.10031A>G (p.Asp3344Gly)
c.10253A>G (p.Asp3418Gly)
c.10007A>G (p.Asp3336Gly)
c.5276A>G (p.Asp1759Gly)
c.3026A>G (p.Asp1009Gly)
c.3989A>G (p.Asp1330Gly)
 gnomAD v4
1g.197088386T>GCA35861095ASPMn.3318A>C
c.10031A>C (p.Asp3344Ala)
c.10253A>C (p.Asp3418Ala)
c.10007A>C (p.Asp3336Ala)
c.5276A>C (p.Asp1759Ala)
c.3026A>C (p.Asp1009Ala)
c.3989A>C (p.Asp1330Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.197088386T=CA1217923583ASPMn.3318A=
c.10031A= (p.Asp3344=)
c.10253A= (p.Asp3418=)
c.10007A= (p.Asp3336=)
c.5276A= (p.Asp1759=)
c.3026A= (p.Asp1009=)
c.3989A= (p.Asp1330=)
1g.197088387C>ACA343998559ASPMn.3317G>T
c.10030G>T (p.Asp3344Tyr)
c.10252G>T (p.Asp3418Tyr)
c.10006G>T (p.Asp3336Tyr)
c.5275G>T (p.Asp1759Tyr)
c.3025G>T (p.Asp1009Tyr)
c.3988G>T (p.Asp1330Tyr)
1g.197088387C>GCA343998560ASPMn.3317G>C
c.10030G>C (p.Asp3344His)
c.10252G>C (p.Asp3418His)
c.10006G>C (p.Asp3336His)
c.5275G>C (p.Asp1759His)
c.3025G>C (p.Asp1009His)
c.3988G>C (p.Asp1330His)
1g.197088387C>TCA343998561ASPMn.3317G>A
c.10030G>A (p.Asp3344Asn)
c.10252G>A (p.Asp3418Asn)
c.10006G>A (p.Asp3336Asn)
c.5275G>A (p.Asp1759Asn)
c.3025G>A (p.Asp1009Asn)
c.3988G>A (p.Asp1330Asn)
1g.197088388T>ACA422672223ASPMn.3316A>T
c.10029A>T (p.Ile3343=)
c.10251A>T (p.Ile3417=)
c.10005A>T (p.Ile3335=)
c.5274A>T (p.Ile1758=)
c.3024A>T (p.Ile1008=)
c.3987A>T (p.Ile1329=)
1g.197088388T>CCA35861098ASPMn.3316A>G
c.10029A>G (p.Ile3343Met)
c.10251A>G (p.Ile3417Met)
c.10005A>G (p.Ile3335Met)
c.5274A>G (p.Ile1758Met)
c.3024A>G (p.Ile1008Met)
c.3987A>G (p.Ile1329Met)
 dbSNP gnomAD v4
1g.197088388T>GCA422672222ASPMn.3316A>C
c.10029A>C (p.Ile3343=)
c.10251A>C (p.Ile3417=)
c.10005A>C (p.Ile3335=)
c.5274A>C (p.Ile1758=)
c.3024A>C (p.Ile1008=)
c.3987A>C (p.Ile1329=)
1g.197088388T=CA1217923585ASPMn.3316A=
c.10029A= (p.Ile3343=)
c.10251A= (p.Ile3417=)
c.10005A= (p.Ile3335=)
c.5274A= (p.Ile1758=)
c.3024A= (p.Ile1008=)
c.3987A= (p.Ile1329=)
1g.197088389A=CA1217923587ASPMn.3315T=
c.10028T= (p.Ile3343=)
c.10250T= (p.Ile3417=)
c.10004T= (p.Ile3335=)
c.5273T= (p.Ile1758=)
c.3023T= (p.Ile1008=)
c.3986T= (p.Ile1329=)
1g.197088389A>CCA343998562ASPMn.3315T>G
c.10028T>G (p.Ile3343Arg)
c.10250T>G (p.Ile3417Arg)
c.10004T>G (p.Ile3335Arg)
c.5273T>G (p.Ile1758Arg)
c.3023T>G (p.Ile1008Arg)
c.3986T>G (p.Ile1329Arg)
1g.197088389A>GCA1308805ASPMn.3315T>C
c.10028T>C (p.Ile3343Thr)
c.10250T>C (p.Ile3417Thr)
c.10004T>C (p.Ile3335Thr)
c.5273T>C (p.Ile1758Thr)
c.3023T>C (p.Ile1008Thr)
c.3986T>C (p.Ile1329Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197088389A>TCA343998563ASPMn.3315T>A
c.10028T>A (p.Ile3343Lys)
c.10250T>A (p.Ile3417Lys)
c.10004T>A (p.Ile3335Lys)
c.5273T>A (p.Ile1758Lys)
c.3023T>A (p.Ile1008Lys)
c.3986T>A (p.Ile1329Lys)
1g.197088390T>ACA343998564ASPMn.3314A>T
c.10027A>T (p.Ile3343Leu)
c.10249A>T (p.Ile3417Leu)
c.10003A>T (p.Ile3335Leu)
c.5272A>T (p.Ile1758Leu)
c.3022A>T (p.Ile1008Leu)
c.3985A>T (p.Ile1329Leu)
1g.197088390T>CCA343998565ASPMn.3314A>G
c.10027A>G (p.Ile3343Val)
c.10249A>G (p.Ile3417Val)
c.10003A>G (p.Ile3335Val)
c.5272A>G (p.Ile1758Val)
c.3022A>G (p.Ile1008Val)
c.3985A>G (p.Ile1329Val)
 dbSNP gnomAD v3 gnomAD v4
1g.197088390T>GCA343998568ASPMn.3314A>C
c.10027A>C (p.Ile3343Leu)
c.10249A>C (p.Ile3417Leu)
c.10003A>C (p.Ile3335Leu)
c.5272A>C (p.Ile1758Leu)
c.3022A>C (p.Ile1008Leu)
c.3985A>C (p.Ile1329Leu)
1g.197088390T=CA1217923589ASPMn.3314A=
c.10027A= (p.Ile3343=)
c.10249A= (p.Ile3417=)
c.10003A= (p.Ile3335=)
c.5272A= (p.Ile1758=)
c.3022A= (p.Ile1008=)
c.3985A= (p.Ile1329=)
1g.197088391A>CCA343998570ASPMn.3313T>G
c.10026T>G (p.Cys3342Trp)
c.10248T>G (p.Cys3416Trp)
c.10002T>G (p.Cys3334Trp)
c.5271T>G (p.Cys1757Trp)
c.3021T>G (p.Cys1007Trp)
c.3984T>G (p.Cys1328Trp)
1g.197088391A>GCA422672224ASPMn.3313T>C
c.10026T>C (p.Cys3342=)
c.10248T>C (p.Cys3416=)
c.10002T>C (p.Cys3334=)
c.5271T>C (p.Cys1757=)
c.3021T>C (p.Cys1007=)
c.3984T>C (p.Cys1328=)
1g.197088391A>TCA343998571ASPMn.3313T>A
c.10026T>A (p.Cys3342Ter)
c.10248T>A (p.Cys3416Ter)
c.10002T>A (p.Cys3334Ter)
c.5271T>A (p.Cys1757Ter)
c.3021T>A (p.Cys1007Ter)
c.3984T>A (p.Cys1328Ter)
1g.197088392C>ACA343998577ASPMn.3312G>T
c.10025G>T (p.Cys3342Phe)
c.10247G>T (p.Cys3416Phe)
c.10001G>T (p.Cys3334Phe)
c.5270G>T (p.Cys1757Phe)
c.3020G>T (p.Cys1007Phe)
c.3983G>T (p.Cys1328Phe)
1g.197088392C>GCA343998574ASPMn.3312G>C
c.10025G>C (p.Cys3342Ser)
c.10247G>C (p.Cys3416Ser)
c.10001G>C (p.Cys3334Ser)
c.5270G>C (p.Cys1757Ser)
c.3020G>C (p.Cys1007Ser)
c.3983G>C (p.Cys1328Ser)
1g.197088392C>TCA343998572ASPMn.3312G>A
c.10025G>A (p.Cys3342Tyr)
c.10247G>A (p.Cys3416Tyr)
c.10001G>A (p.Cys3334Tyr)
c.5270G>A (p.Cys1757Tyr)
c.3020G>A (p.Cys1007Tyr)
c.3983G>A (p.Cys1328Tyr)
1g.197088393A>CCA343998580ASPMn.3311T>G
c.10024T>G (p.Cys3342Gly)
c.10246T>G (p.Cys3416Gly)
c.10000T>G (p.Cys3334Gly)
c.5269T>G (p.Cys1757Gly)
c.3019T>G (p.Cys1007Gly)
c.3982T>G (p.Cys1328Gly)
1g.197088393A>GCA343998585ASPMn.3311T>C
c.10024T>C (p.Cys3342Arg)
c.10246T>C (p.Cys3416Arg)
c.10000T>C (p.Cys3334Arg)
c.5269T>C (p.Cys1757Arg)
c.3019T>C (p.Cys1007Arg)
c.3982T>C (p.Cys1328Arg)
1g.197088393A>TCA343998582ASPMn.3311T>A
c.10024T>A (p.Cys3342Ser)
c.10246T>A (p.Cys3416Ser)
c.10000T>A (p.Cys3334Ser)
c.5269T>A (p.Cys1757Ser)
c.3019T>A (p.Cys1007Ser)
c.3982T>A (p.Cys1328Ser)
1g.197088394A>CCA343998587ASPMn.3310T>G
c.10023T>G (p.Asn3341Lys)
c.10245T>G (p.Asn3415Lys)
c.9999T>G (p.Asn3333Lys)
c.5268T>G (p.Asn1756Lys)
c.3018T>G (p.Asn1006Lys)
c.3981T>G (p.Asn1327Lys)
1g.197088394A>GCA422672225ASPMn.3310T>C
c.10023T>C (p.Asn3341=)
c.10245T>C (p.Asn3415=)
c.9999T>C (p.Asn3333=)
c.5268T>C (p.Asn1756=)
c.3018T>C (p.Asn1006=)
c.3981T>C (p.Asn1327=)
 gnomAD v4
1g.197088394A>TCA343998590ASPMn.3310T>A
c.10023T>A (p.Asn3341Lys)
c.10245T>A (p.Asn3415Lys)
c.9999T>A (p.Asn3333Lys)
c.5268T>A (p.Asn1756Lys)
c.3018T>A (p.Asn1006Lys)
c.3981T>A (p.Asn1327Lys)
1g.197088395T>ACA343998591ASPMn.3309A>T
c.10022A>T (p.Asn3341Ile)
c.10244A>T (p.Asn3415Ile)
c.9998A>T (p.Asn3333Ile)
c.5267A>T (p.Asn1756Ile)
c.3017A>T (p.Asn1006Ile)
c.3980A>T (p.Asn1327Ile)
1g.197088395T>CCA343998592ASPMn.3309A>G
c.10022A>G (p.Asn3341Ser)
c.10244A>G (p.Asn3415Ser)
c.9998A>G (p.Asn3333Ser)
c.5267A>G (p.Asn1756Ser)
c.3017A>G (p.Asn1006Ser)
c.3980A>G (p.Asn1327Ser)
1g.197088395T>GCA343998594ASPMn.3309A>C
c.10022A>C (p.Asn3341Thr)
c.10244A>C (p.Asn3415Thr)
c.9998A>C (p.Asn3333Thr)
c.5267A>C (p.Asn1756Thr)
c.3017A>C (p.Asn1006Thr)
c.3980A>C (p.Asn1327Thr)
1g.197088396T>ACA343998596ASPMn.3308A>T
c.10021A>T (p.Asn3341Tyr)
c.10243A>T (p.Asn3415Tyr)
c.9997A>T (p.Asn3333Tyr)
c.5266A>T (p.Asn1756Tyr)
c.3016A>T (p.Asn1006Tyr)
c.3979A>T (p.Asn1327Tyr)
1g.197088396T>CCA343998599ASPMn.3308A>G
c.10021A>G (p.Asn3341Asp)
c.10243A>G (p.Asn3415Asp)
c.9997A>G (p.Asn3333Asp)
c.5266A>G (p.Asn1756Asp)
c.3016A>G (p.Asn1006Asp)
c.3979A>G (p.Asn1327Asp)
 dbSNP
1g.197088396T>GCA343998602ASPMn.3308A>C
c.10021A>C (p.Asn3341His)
c.10243A>C (p.Asn3415His)
c.9997A>C (p.Asn3333His)
c.5266A>C (p.Asn1756His)
c.3016A>C (p.Asn1006His)
c.3979A>C (p.Asn1327His)
1g.197088396T=CA1217923591ASPMn.3308A=
c.10021A= (p.Asn3341=)
c.10243A= (p.Asn3415=)
c.9997A= (p.Asn3333=)
c.5266A= (p.Asn1756=)
c.3016A= (p.Asn1006=)
c.3979A= (p.Asn1327=)
1g.197088397T>ACA343998607ASPMn.3307A>T
c.10020A>T (p.Glu3340Asp)
c.10242A>T (p.Glu3414Asp)
c.9996A>T (p.Glu3332Asp)
c.5265A>T (p.Glu1755Asp)
c.3015A>T (p.Glu1005Asp)
c.3978A>T (p.Glu1326Asp)
1g.197088397T>CCA422672226ASPMn.3307A>G
c.10020A>G (p.Glu3340=)
c.10242A>G (p.Glu3414=)
c.9996A>G (p.Glu3332=)
c.5265A>G (p.Glu1755=)
c.3015A>G (p.Glu1005=)
c.3978A>G (p.Glu1326=)
1g.197088397T>GCA343998608ASPMn.3307A>C
c.10020A>C (p.Glu3340Asp)
c.10242A>C (p.Glu3414Asp)
c.9996A>C (p.Glu3332Asp)
c.5265A>C (p.Glu1755Asp)
c.3015A>C (p.Glu1005Asp)
c.3978A>C (p.Glu1326Asp)
1g.197088398T>ACA343998613ASPMn.3306A>T
c.10019A>T (p.Glu3340Val)
c.10241A>T (p.Glu3414Val)
c.9995A>T (p.Glu3332Val)
c.5264A>T (p.Glu1755Val)
c.3014A>T (p.Glu1005Val)
c.3977A>T (p.Glu1326Val)
1g.197088398T>CCA1308806ASPMn.3306A>G
c.10019A>G (p.Glu3340Gly)
c.10241A>G (p.Glu3414Gly)
c.9995A>G (p.Glu3332Gly)
c.5264A>G (p.Glu1755Gly)
c.3014A>G (p.Glu1005Gly)
c.3977A>G (p.Glu1326Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197088398T>GCA343998625ASPMn.3306A>C
c.10019A>C (p.Glu3340Ala)
c.10241A>C (p.Glu3414Ala)
c.9995A>C (p.Glu3332Ala)
c.5264A>C (p.Glu1755Ala)
c.3014A>C (p.Glu1005Ala)
c.3977A>C (p.Glu1326Ala)
1g.197088398T=CA1217923593ASPMn.3306A=
c.10019A= (p.Glu3340=)
c.10241A= (p.Glu3414=)
c.9995A= (p.Glu3332=)
c.5264A= (p.Glu1755=)
c.3014A= (p.Glu1005=)
c.3977A= (p.Glu1326=)
1g.197088399C>ACA343998631ASPMn.3305G>T
c.10018G>T (p.Glu3340Ter)
c.10240G>T (p.Glu3414Ter)
c.9994G>T (p.Glu3332Ter)
c.5263G>T (p.Glu1755Ter)
c.3013G>T (p.Glu1005Ter)
c.3976G>T (p.Glu1326Ter)
1g.197088399C>GCA343998628ASPMn.3305G>C
c.10018G>C (p.Glu3340Gln)
c.10240G>C (p.Glu3414Gln)
c.9994G>C (p.Glu3332Gln)
c.5263G>C (p.Glu1755Gln)
c.3013G>C (p.Glu1005Gln)
c.3976G>C (p.Glu1326Gln)
1g.197088399C>TCA343998626ASPMn.3305G>A
c.10018G>A (p.Glu3340Lys)
c.10240G>A (p.Glu3414Lys)
c.9994G>A (p.Glu3332Lys)
c.5263G>A (p.Glu1755Lys)
c.3013G>A (p.Glu1005Lys)
c.3976G>A (p.Glu1326Lys)
1g.197088400T>ACA422672227ASPMn.3304A>T
c.10017A>T (p.Val3339=)
c.10239A>T (p.Val3413=)
c.9993A>T (p.Val3331=)
c.5262A>T (p.Val1754=)
c.3012A>T (p.Val1004=)
c.3975A>T (p.Val1325=)
1g.197088400T>CCA422672228ASPMn.3304A>G
c.10017A>G (p.Val3339=)
c.10239A>G (p.Val3413=)
c.9993A>G (p.Val3331=)
c.5262A>G (p.Val1754=)
c.3012A>G (p.Val1004=)
c.3975A>G (p.Val1325=)
1g.197088400T>GCA35861108ASPMn.3304A>C
c.10017A>C (p.Val3339=)
c.10239A>C (p.Val3413=)
c.9993A>C (p.Val3331=)
c.5262A>C (p.Val1754=)
c.3012A>C (p.Val1004=)
c.3975A>C (p.Val1325=)
 dbSNP gnomAD v4
1g.197088400T=CA1143567184ASPMn.3304A=
c.10017A= (p.Val3339=)
c.10239A= (p.Val3413=)
c.9993A= (p.Val3331=)
c.5262A= (p.Val1754=)
c.3012A= (p.Val1004=)
c.3975A= (p.Val1325=)
1g.197088401A>CCA343998633ASPMn.3303T>G
c.10016T>G (p.Val3339Gly)
c.10238T>G (p.Val3413Gly)
c.9992T>G (p.Val3331Gly)
c.5261T>G (p.Val1754Gly)
c.3011T>G (p.Val1004Gly)
c.3974T>G (p.Val1325Gly)
1g.197088401A>GCA343998634ASPMn.3303T>C
c.10016T>C (p.Val3339Ala)
c.10238T>C (p.Val3413Ala)
c.9992T>C (p.Val3331Ala)
c.5261T>C (p.Val1754Ala)
c.3011T>C (p.Val1004Ala)
c.3974T>C (p.Val1325Ala)
 gnomAD v4
1g.197088401A>TCA343998636ASPMn.3303T>A
c.10016T>A (p.Val3339Glu)
c.10238T>A (p.Val3413Glu)
c.9992T>A (p.Val3331Glu)
c.5261T>A (p.Val1754Glu)
c.3011T>A (p.Val1004Glu)
c.3974T>A (p.Val1325Glu)
1g.197088402C>ACA343998640ASPMn.3302G>T
c.10015G>T (p.Val3339Leu)
c.10237G>T (p.Val3413Leu)
c.9991G>T (p.Val3331Leu)
c.5260G>T (p.Val1754Leu)
c.3010G>T (p.Val1004Leu)
c.3973G>T (p.Val1325Leu)
1g.197088402C=CA1217923595ASPMn.3302G=
c.10015G= (p.Val3339=)
c.10237G= (p.Val3413=)
c.9991G= (p.Val3331=)
c.5260G= (p.Val1754=)
c.3010G= (p.Val1004=)
c.3973G= (p.Val1325=)
1g.197088402C>GCA343998642ASPMn.3302G>C
c.10015G>C (p.Val3339Leu)
c.10237G>C (p.Val3413Leu)
c.9991G>C (p.Val3331Leu)
c.5260G>C (p.Val1754Leu)
c.3010G>C (p.Val1004Leu)
c.3973G>C (p.Val1325Leu)
1g.197088402C>TCA343998649ASPMn.3302G>A
c.10015G>A (p.Val3339Ile)
c.10237G>A (p.Val3413Ile)
c.9991G>A (p.Val3331Ile)
c.5260G>A (p.Val1754Ile)
c.3010G>A (p.Val1004Ile)
c.3973G>A (p.Val1325Ile)
 dbSNP gnomAD v3 gnomAD v4
1g.197088403A>CCA343998650ASPMn.3301T>G
c.10014T>G (p.Asp3338Glu)
c.10236T>G (p.Asp3412Glu)
c.9990T>G (p.Asp3330Glu)
c.5259T>G (p.Asp1753Glu)
c.3009T>G (p.Asp1003Glu)
c.3972T>G (p.Asp1324Glu)
1g.197088403A>GCA422672229ASPMn.3301T>C
c.10014T>C (p.Asp3338=)
c.10236T>C (p.Asp3412=)
c.9990T>C (p.Asp3330=)
c.5259T>C (p.Asp1753=)
c.3009T>C (p.Asp1003=)
c.3972T>C (p.Asp1324=)
1g.197088403A>TCA343998653ASPMn.3301T>A
c.10014T>A (p.Asp3338Glu)
c.10236T>A (p.Asp3412Glu)
c.9990T>A (p.Asp3330Glu)
c.5259T>A (p.Asp1753Glu)
c.3009T>A (p.Asp1003Glu)
c.3972T>A (p.Asp1324Glu)
1g.197088404delCA2586967835ASPMn.3300del
c.10013del (p.Asp3338ValfsTer2)
c.10235del (p.Asp3412ValfsTer2)
c.9989del (p.Asp3330ValfsTer2)
c.5258del (p.Asp1753ValfsTer2)
c.3008del (p.Asp1003ValfsTer2)
c.3971del (p.Asp1324ValfsTer2)
1g.197088404T>ACA343998655ASPMn.3300A>T
c.10013A>T (p.Asp3338Val)
c.10235A>T (p.Asp3412Val)
c.9989A>T (p.Asp3330Val)
c.5258A>T (p.Asp1753Val)
c.3008A>T (p.Asp1003Val)
c.3971A>T (p.Asp1324Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197088404T>CCA343998656ASPMn.3300A>G
c.10013A>G (p.Asp3338Gly)
c.10235A>G (p.Asp3412Gly)
c.9989A>G (p.Asp3330Gly)
c.5258A>G (p.Asp1753Gly)
c.3008A>G (p.Asp1003Gly)
c.3971A>G (p.Asp1324Gly)
1g.197088404T>GCA343998657ASPMn.3300A>C
c.10013A>C (p.Asp3338Ala)
c.10235A>C (p.Asp3412Ala)
c.9989A>C (p.Asp3330Ala)
c.5258A>C (p.Asp1753Ala)
c.3008A>C (p.Asp1003Ala)
c.3971A>C (p.Asp1324Ala)
1g.197088404T=CA1217923597ASPMn.3300A=
c.10013A= (p.Asp3338=)
c.10235A= (p.Asp3412=)
c.9989A= (p.Asp3330=)
c.5258A= (p.Asp1753=)
c.3008A= (p.Asp1003=)
c.3971A= (p.Asp1324=)

Number of alleles fetched