Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.70946064_70946175delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATATCA1554172347SMN1c.724-2_833delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT
c.628-2_737delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT
n.291-2_400delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT
c.523-2_632delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT
n.241-2_350delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT
c.427-2_536delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT
5g.70946066_70946176delCA645372410SMN1c.724_834del
c.628_738del
n.291_401del
c.523_633del
n.241_351del
c.427_537del
 ClinVar dbSNP
5g.70946066_70951991delCA1139658875SMN1c.724_885del
c.628_789del
c.724_835-448del
c.724_*59-448del
c.523_684del
c.427_588del
c.628_739-448del
 ClinVar
5g.70946068A>CCA444972070SMN1c.726A>C (p.Ile242=)
c.630A>C (p.Ile210=)
c.420A>C (n.420A>C)
n.293A>C
c.525A>C (p.Ile175=)
n.243A>C
c.429A>C (p.Ile143=)
 gnomAD v4
5g.70946068A>GCA360096506SMN1c.726A>G (p.Ile242Met)
c.630A>G (p.Ile210Met)
c.420A>G (n.420A>G)
n.293A>G
c.525A>G (p.Ile175Met)
n.243A>G
c.429A>G (p.Ile143Met)
5g.70946068A>TCA444972078SMN1c.726A>T (p.Ile242=)
c.630A>T (p.Ile210=)
c.420A>T (n.420A>T)
n.293A>T
c.525A>T (p.Ile175=)
n.243A>T
c.429A>T (p.Ile143=)
5g.70946069A>CCA360096509SMN1c.727A>C (p.Ile243Leu)
c.631A>C (p.Ile211Leu)
c.421A>C (n.421A>C)
n.294A>C
c.526A>C (p.Ile176Leu)
n.244A>C
c.430A>C (p.Ile144Leu)
5g.70946069A>GCA360096510SMN1c.727A>G (p.Ile243Val)
c.631A>G (p.Ile211Val)
c.421A>G (n.421A>G)
n.294A>G
c.526A>G (p.Ile176Val)
n.244A>G
c.430A>G (p.Ile144Val)
5g.70946069A>TCA360096512SMN1c.727A>T (p.Ile243Phe)
c.631A>T (p.Ile211Phe)
c.421A>T (n.421A>T)
n.294A>T
c.526A>T (p.Ile176Phe)
n.244A>T
c.430A>T (p.Ile144Phe)
5g.70946070T>ACA360096518SMN1c.728T>A (p.Ile243Asn)
c.632T>A (p.Ile211Asn)
c.422T>A (n.422T>A)
n.295T>A
c.527T>A (p.Ile176Asn)
n.245T>A
c.431T>A (p.Ile144Asn)
5g.70946070T>CCA360096520SMN1c.728T>C (p.Ile243Thr)
c.632T>C (p.Ile211Thr)
c.422T>C (n.422T>C)
n.295T>C
c.527T>C (p.Ile176Thr)
n.245T>C
c.431T>C (p.Ile144Thr)
5g.70946070T>GCA360096515SMN1c.728T>G (p.Ile243Ser)
c.632T>G (p.Ile211Ser)
c.422T>G (n.422T>G)
n.295T>G
c.527T>G (p.Ile176Ser)
n.245T>G
c.431T>G (p.Ile144Ser)
5g.70946071T>ACA444972106SMN1c.729T>A (p.Ile243=)
c.633T>A (p.Ile211=)
c.423T>A (n.423T>A)
n.296T>A
c.528T>A (p.Ile176=)
n.246T>A
c.432T>A (p.Ile144=)
5g.70946071T>CCA444972122SMN1c.729T>C (p.Ile243=)
c.633T>C (p.Ile211=)
c.423T>C (n.423T>C)
n.296T>C
c.528T>C (p.Ile176=)
n.246T>C
c.432T>C (p.Ile144=)
5g.70946071T>GCA360096525SMN1c.729T>G (p.Ile243Met)
c.633T>G (p.Ile211Met)
c.423T>G (n.423T>G)
n.296T>G
c.528T>G (p.Ile176Met)
n.246T>G
c.432T>G (p.Ile144Met)
5g.70946072C>ACA360096536SMN1c.730C>A (p.Pro244Thr)
c.634C>A (p.Pro212Thr)
c.424C>A (n.424C>A)
n.297C>A
c.529C>A (p.Pro177Thr)
n.247C>A
c.433C>A (p.Pro145Thr)
5g.70946072C>GCA360096529SMN1c.730C>G (p.Pro244Ala)
c.634C>G (p.Pro212Ala)
c.424C>G (n.424C>G)
n.297C>G
c.529C>G (p.Pro177Ala)
n.247C>G
c.433C>G (p.Pro145Ala)
5g.70946072C>TCA360096532SMN1c.730C>T (p.Pro244Ser)
c.634C>T (p.Pro212Ser)
c.424C>T (n.424C>T)
n.297C>T
c.529C>T (p.Pro177Ser)
n.247C>T
c.433C>T (p.Pro145Ser)
5g.70946076dupCA2695204557SMN1c.734dup (p.Pro246ThrfsTer10)
c.638dup (p.Pro214ThrfsTer10)
c.428dup (n.428dup)
n.301dup
c.533dup (p.Pro179ThrfsTer10)
n.251dup
c.437dup (p.Pro147ThrfsTer10)
5g.70946073C>ACA360096548SMN1c.731C>A (p.Pro244His)
c.635C>A (p.Pro212His)
c.425C>A (n.425C>A)
n.298C>A
c.530C>A (p.Pro177His)
n.248C>A
c.434C>A (p.Pro145His)
5g.70946073C>GCA360096550SMN1c.731C>G (p.Pro244Arg)
c.635C>G (p.Pro212Arg)
c.425C>G (n.425C>G)
n.298C>G
c.530C>G (p.Pro177Arg)
n.248C>G
c.434C>G (p.Pro145Arg)
5g.70946073C>TCA360096554SMN1c.731C>T (p.Pro244Leu)
c.635C>T (p.Pro212Leu)
c.425C>T (n.425C>T)
n.298C>T
c.530C>T (p.Pro177Leu)
n.248C>T
c.434C>T (p.Pro145Leu)
5g.70946074C>ACA444972155SMN1c.732C>A (p.Pro244=)
c.636C>A (p.Pro212=)
c.426C>A (n.426C>A)
n.299C>A
c.531C>A (p.Pro177=)
n.249C>A
c.435C>A (p.Pro145=)
5g.70946074C>GCA444972158SMN1c.732C>G (p.Pro244=)
c.636C>G (p.Pro212=)
c.426C>G (n.426C>G)
n.299C>G
c.531C>G (p.Pro177=)
n.249C>G
c.435C>G (p.Pro145=)
5g.70946074C>TCA444972161SMN1c.732C>T (p.Pro244=)
c.636C>T (p.Pro212=)
c.426C>T (n.426C>T)
n.299C>T
c.531C>T (p.Pro177=)
n.249C>T
c.435C>T (p.Pro145=)
5g.70946075C>ACA360096565SMN1c.733C>A (p.Pro245Thr)
c.637C>A (p.Pro213Thr)
c.427C>A (n.427C>A)
n.300C>A
c.532C>A (p.Pro178Thr)
n.250C>A
c.436C>A (p.Pro146Thr)
 gnomAD v4
5g.70946075C>GCA360096563SMN1c.733C>G (p.Pro245Ala)
c.637C>G (p.Pro213Ala)
c.427C>G (n.427C>G)
n.300C>G
c.532C>G (p.Pro178Ala)
n.250C>G
c.436C>G (p.Pro146Ala)
5g.70946075C>TCA360096560SMN1c.733C>T (p.Pro245Ser)
c.637C>T (p.Pro213Ser)
c.427C>T (n.427C>T)
n.300C>T
c.532C>T (p.Pro178Ser)
n.250C>T
c.436C>T (p.Pro146Ser)
5g.70946076C>ACA360096574SMN1c.734C>A (p.Pro245Gln)
c.638C>A (p.Pro213Gln)
c.428C>A (n.428C>A)
n.301C>A
c.533C>A (p.Pro178Gln)
n.251C>A
c.437C>A (p.Pro146Gln)
5g.70946076C>GCA360096576SMN1c.734C>G (p.Pro245Arg)
c.638C>G (p.Pro213Arg)
c.428C>G (n.428C>G)
n.301C>G
c.533C>G (p.Pro178Arg)
n.251C>G
c.437C>G (p.Pro146Arg)
5g.70946076C>TCA360096578SMN1c.734C>T (p.Pro245Leu)
c.638C>T (p.Pro213Leu)
c.428C>T (n.428C>T)
n.301C>T
c.533C>T (p.Pro178Leu)
n.251C>T
c.437C>T (p.Pro146Leu)
5g.70946077A>CCA444972189SMN1c.735A>C (p.Pro245=)
c.639A>C (p.Pro213=)
c.429A>C (n.429A>C)
n.302A>C
c.534A>C (p.Pro178=)
n.252A>C
c.438A>C (p.Pro146=)
5g.70946077A>GCA444972190SMN1c.735A>G (p.Pro245=)
c.639A>G (p.Pro213=)
c.429A>G (n.429A>G)
n.302A>G
c.534A>G (p.Pro178=)
n.252A>G
c.438A>G (p.Pro146=)
5g.70946077A>TCA444972194SMN1c.735A>T (p.Pro245=)
c.639A>T (p.Pro213=)
c.429A>T (n.429A>T)
n.302A>T
c.534A>T (p.Pro178=)
n.252A>T
c.438A>T (p.Pro146=)
5g.70946077dupCA2695204558SMN1c.735dup (p.Pro246ThrfsTer10)
c.639dup (p.Pro214ThrfsTer10)
c.429dup (n.429dup)
n.302dup
c.534dup (p.Pro179ThrfsTer10)
n.252dup
c.438dup (p.Pro147ThrfsTer10)
5g.70946078C>ACA360096583SMN1c.736C>A (p.Pro246Thr)
c.640C>A (p.Pro214Thr)
c.430C>A (n.430C>A)
n.303C>A
c.535C>A (p.Pro179Thr)
n.253C>A
c.439C>A (p.Pro147Thr)
5g.70946078C>GCA360096585SMN1c.736C>G (p.Pro246Ala)
c.640C>G (p.Pro214Ala)
c.430C>G (n.430C>G)
n.303C>G
c.535C>G (p.Pro179Ala)
n.253C>G
c.439C>G (p.Pro147Ala)
5g.70946078C>TCA360096588SMN1c.736C>T (p.Pro246Ser)
c.640C>T (p.Pro214Ser)
c.430C>T (n.430C>T)
n.303C>T
c.535C>T (p.Pro179Ser)
n.253C>T
c.439C>T (p.Pro147Ser)
5g.70946079C>ACA360096609SMN1c.737C>A (p.Pro246Gln)
c.641C>A (p.Pro214Gln)
c.431C>A (n.431C>A)
n.304C>A
c.536C>A (p.Pro179Gln)
n.254C>A
c.440C>A (p.Pro147Gln)
5g.70946079C>GCA360096593SMN1c.737C>G (p.Pro246Arg)
c.641C>G (p.Pro214Arg)
c.431C>G (n.431C>G)
n.304C>G
c.536C>G (p.Pro179Arg)
n.254C>G
c.440C>G (p.Pro147Arg)
5g.70946079C>TCA360096597SMN1c.737C>T (p.Pro246Leu)
c.641C>T (p.Pro214Leu)
c.431C>T (n.431C>T)
n.304C>T
c.536C>T (p.Pro179Leu)
n.254C>T
c.440C>T (p.Pro147Leu)
5g.70946080A>CCA444972238SMN1c.738A>C (p.Pro246=)
c.642A>C (p.Pro214=)
n.305A>C
c.537A>C (p.Pro179=)
n.255A>C
c.441A>C (p.Pro147=)
 COSMIC
5g.70946080A>GCA444972241SMN1c.738A>G (p.Pro246=)
c.642A>G (p.Pro214=)
n.305A>G
c.537A>G (p.Pro179=)
n.255A>G
c.441A>G (p.Pro147=)
5g.70946080A>TCA444972245SMN1c.738A>T (p.Pro246=)
c.642A>T (p.Pro214=)
n.305A>T
c.537A>T (p.Pro179=)
n.255A>T
c.441A>T (p.Pro147=)
 gnomAD v4
5g.70946081C>ACA360096615SMN1c.739C>A (p.Pro247Thr)
c.643C>A (p.Pro215Thr)
n.306C>A
c.538C>A (p.Pro180Thr)
n.256C>A
c.442C>A (p.Pro148Thr)
5g.70946081C>GCA360096617SMN1c.739C>G (p.Pro247Ala)
c.643C>G (p.Pro215Ala)
n.306C>G
c.538C>G (p.Pro180Ala)
n.256C>G
c.442C>G (p.Pro148Ala)
5g.70946081C>TCA360096620SMN1c.739C>T (p.Pro247Ser)
c.643C>T (p.Pro215Ser)
n.306C>T
c.538C>T (p.Pro180Ser)
n.256C>T
c.442C>T (p.Pro148Ser)
5g.70946082dupCA2695204559SMN1c.740dup (p.Pro248SerfsTer8)
c.644dup (p.Pro216SerfsTer8)
n.307dup
c.539dup (p.Pro181SerfsTer8)
n.257dup
c.443dup (p.Pro149SerfsTer8)
5g.70946082C>ACA360096624SMN1c.740C>A (p.Pro247His)
c.644C>A (p.Pro215His)
n.307C>A
c.539C>A (p.Pro180His)
n.257C>A
c.443C>A (p.Pro148His)
5g.70946082C>GCA360096627SMN1c.740C>G (p.Pro247Arg)
c.644C>G (p.Pro215Arg)
n.307C>G
c.539C>G (p.Pro180Arg)
n.257C>G
c.443C>G (p.Pro148Arg)
5g.70946082C>TCA360096631SMN1c.740C>T (p.Pro247Leu)
c.644C>T (p.Pro215Leu)
n.307C>T
c.539C>T (p.Pro180Leu)
n.257C>T
c.443C>T (p.Pro148Leu)
5g.70946083T>ACA444972298SMN1c.741T>A (p.Pro247=)
c.645T>A (p.Pro215=)
n.308T>A
c.540T>A (p.Pro180=)
n.258T>A
c.444T>A (p.Pro148=)
5g.70946083T>CCA444972302SMN1c.741T>C (p.Pro247=)
c.645T>C (p.Pro215=)
n.308T>C
c.540T>C (p.Pro180=)
n.258T>C
c.444T>C (p.Pro148=)
5g.70946083T>GCA444972305SMN1c.741T>G (p.Pro247=)
c.645T>G (p.Pro215=)
n.308T>G
c.540T>G (p.Pro180=)
n.258T>G
c.444T>G (p.Pro148=)
5g.70946084C>ACA360096634SMN1c.742C>A (p.Pro248Thr)
c.646C>A (p.Pro216Thr)
n.309C>A
c.541C>A (p.Pro181Thr)
n.259C>A
c.445C>A (p.Pro149Thr)
5g.70946084C>GCA360096636SMN1c.742C>G (p.Pro248Ala)
c.646C>G (p.Pro216Ala)
n.309C>G
c.541C>G (p.Pro181Ala)
n.259C>G
c.445C>G (p.Pro149Ala)
5g.70946084C>TCA360096639SMN1c.742C>T (p.Pro248Ser)
c.646C>T (p.Pro216Ser)
n.309C>T
c.541C>T (p.Pro181Ser)
n.259C>T
c.445C>T (p.Pro149Ser)
5g.70946086delCA2695204560SMN1c.744del (p.Ile249TyrfsTer16)
c.648del (p.Ile217TyrfsTer16)
n.311del
c.543del (p.Ile182TyrfsTer16)
n.261del
c.447del (p.Ile150TyrfsTer16)
5g.70946085C>ACA360096642SMN1c.743C>A (p.Pro248His)
c.647C>A (p.Pro216His)
n.310C>A
c.542C>A (p.Pro181His)
n.260C>A
c.446C>A (p.Pro149His)
5g.70946085C>GCA360096643SMN1c.743C>G (p.Pro248Arg)
c.647C>G (p.Pro216Arg)
n.310C>G
c.542C>G (p.Pro181Arg)
n.260C>G
c.446C>G (p.Pro149Arg)
5g.70946085C>TCA360096644SMN1c.743C>T (p.Pro248Leu)
c.647C>T (p.Pro216Leu)
n.310C>T
c.542C>T (p.Pro181Leu)
n.260C>T
c.446C>T (p.Pro149Leu)
5g.70946086C>ACA444972331SMN1c.744C>A (p.Pro248=)
c.648C>A (p.Pro216=)
n.311C>A
c.543C>A (p.Pro181=)
n.261C>A
c.447C>A (p.Pro149=)
5g.70946086C>GCA444972338SMN1c.744C>G (p.Pro248=)
c.648C>G (p.Pro216=)
n.311C>G
c.543C>G (p.Pro181=)
n.261C>G
c.447C>G (p.Pro149=)
5g.70946086C>TCA444972333SMN1c.744C>T (p.Pro248=)
c.648C>T (p.Pro216=)
n.311C>T
c.543C>T (p.Pro181=)
n.261C>T
c.447C>T (p.Pro149=)
5g.70946087A=CA1554172348SMN1c.745A= (p.Ile249=)
c.649A= (p.Ile217=)
n.312A=
c.544A= (p.Ile182=)
n.262A=
c.448A= (p.Ile150=)
5g.70946087A>CCA360096647SMN1c.745A>C (p.Ile249Leu)
c.649A>C (p.Ile217Leu)
n.312A>C
c.544A>C (p.Ile182Leu)
n.262A>C
c.448A>C (p.Ile150Leu)
5g.70946087A>GCA360096653SMN1c.745A>G (p.Ile249Val)
c.649A>G (p.Ile217Val)
n.312A>G
c.544A>G (p.Ile182Val)
n.262A>G
c.448A>G (p.Ile150Val)
 dbSNP
5g.70946087A>TCA360096650SMN1c.745A>T (p.Ile249Leu)
c.649A>T (p.Ile217Leu)
n.312A>T
c.544A>T (p.Ile182Leu)
n.262A>T
c.448A>T (p.Ile150Leu)
5g.70946088T>ACA360096656SMN1c.746T>A (p.Ile249Lys)
c.650T>A (p.Ile217Lys)
n.313T>A
c.545T>A (p.Ile182Lys)
n.263T>A
c.449T>A (p.Ile150Lys)
5g.70946088T>CCA360096659SMN1c.746T>C (p.Ile249Thr)
c.650T>C (p.Ile217Thr)
n.313T>C
c.545T>C (p.Ile182Thr)
n.263T>C
c.449T>C (p.Ile150Thr)
5g.70946088T>GCA360096663SMN1c.746T>G (p.Ile249Arg)
c.650T>G (p.Ile217Arg)
n.313T>G
c.545T>G (p.Ile182Arg)
n.263T>G
c.449T>G (p.Ile150Arg)
5g.70946089A>CCA444972354SMN1c.747A>C (p.Ile249=)
c.651A>C (p.Ile217=)
n.1A>C
n.314A>C
c.546A>C (p.Ile182=)
n.264A>C
c.450A>C (p.Ile150=)
5g.70946089A>GCA360096666SMN1c.747A>G (p.Ile249Met)
c.651A>G (p.Ile217Met)
n.1A>G
n.314A>G
c.546A>G (p.Ile182Met)
n.264A>G
c.450A>G (p.Ile150Met)
5g.70946089A>TCA444972361SMN1c.747A>T (p.Ile249=)
c.651A>T (p.Ile217=)
n.1A>T
n.314A>T
c.546A>T (p.Ile182=)
n.264A>T
c.450A>T (p.Ile150=)
5g.70946090T>ACA360096671SMN1c.748T>A (p.Cys250Ser)
c.652T>A (p.Cys218Ser)
n.2T>A
n.315T>A
c.547T>A (p.Cys183Ser)
n.265T>A
c.451T>A (p.Cys151Ser)
5g.70946090T>CCA360096674SMN1c.748T>C (p.Cys250Arg)
c.652T>C (p.Cys218Arg)
n.2T>C
n.315T>C
c.547T>C (p.Cys183Arg)
n.265T>C
c.451T>C (p.Cys151Arg)
5g.70946090T>GCA360096676SMN1c.748T>G (p.Cys250Gly)
c.652T>G (p.Cys218Gly)
n.2T>G
n.315T>G
c.547T>G (p.Cys183Gly)
n.265T>G
c.451T>G (p.Cys151Gly)
5g.70946091G>ACA360096681SMN1c.749G>A (p.Cys250Tyr)
c.653G>A (p.Cys218Tyr)
n.3G>A
n.316G>A
c.548G>A (p.Cys183Tyr)
n.266G>A
c.452G>A (p.Cys151Tyr)
5g.70946091G>CCA360096684SMN1c.749G>C (p.Cys250Ser)
c.653G>C (p.Cys218Ser)
n.3G>C
n.316G>C
c.548G>C (p.Cys183Ser)
n.266G>C
c.452G>C (p.Cys151Ser)
5g.70946091G>TCA360096688SMN1c.749G>T (p.Cys250Phe)
c.653G>T (p.Cys218Phe)
n.3G>T
n.316G>T
c.548G>T (p.Cys183Phe)
n.266G>T
c.452G>T (p.Cys151Phe)
5g.70946092T>ACA360096691SMN1c.750T>A (p.Cys250Ter)
c.654T>A (p.Cys218Ter)
n.4T>A
n.317T>A
c.549T>A (p.Cys183Ter)
n.267T>A
c.453T>A (p.Cys151Ter)
5g.70946092T>CCA444972393SMN1c.750T>C (p.Cys250=)
c.654T>C (p.Cys218=)
n.4T>C
n.317T>C
c.549T>C (p.Cys183=)
n.267T>C
c.453T>C (p.Cys151=)
5g.70946092T>GCA360096693SMN1c.750T>G (p.Cys250Trp)
c.654T>G (p.Cys218Trp)
n.4T>G
n.317T>G
c.549T>G (p.Cys183Trp)
n.267T>G
c.453T>G (p.Cys151Trp)
5g.70946093C>ACA360096706SMN1c.751C>A (p.Pro251Thr)
c.655C>A (p.Pro219Thr)
n.5C>A
n.318C>A
c.550C>A (p.Pro184Thr)
n.268C>A
c.454C>A (p.Pro152Thr)
5g.70946093C>GCA360096701SMN1c.751C>G (p.Pro251Ala)
c.655C>G (p.Pro219Ala)
n.5C>G
n.318C>G
c.550C>G (p.Pro184Ala)
n.268C>G
c.454C>G (p.Pro152Ala)
5g.70946093C>TCA360096703SMN1c.751C>T (p.Pro251Ser)
c.655C>T (p.Pro219Ser)
n.5C>T
n.318C>T
c.550C>T (p.Pro184Ser)
n.268C>T
c.454C>T (p.Pro152Ser)
5g.70946094C>ACA360096711SMN1c.752C>A (p.Pro251Gln)
c.656C>A (p.Pro219Gln)
n.6C>A
n.319C>A
c.551C>A (p.Pro184Gln)
n.269C>A
c.455C>A (p.Pro152Gln)
5g.70946094C>GCA360096714SMN1c.752C>G (p.Pro251Arg)
c.656C>G (p.Pro219Arg)
n.6C>G
n.319C>G
c.551C>G (p.Pro184Arg)
n.269C>G
c.455C>G (p.Pro152Arg)
5g.70946094C>TCA360096717SMN1c.752C>T (p.Pro251Leu)
c.656C>T (p.Pro219Leu)
n.6C>T
n.319C>T
c.551C>T (p.Pro184Leu)
n.269C>T
c.455C>T (p.Pro152Leu)
5g.70946095A>CCA444972418SMN1c.753A>C (p.Pro251=)
c.657A>C (p.Pro219=)
n.7A>C
n.320A>C
c.552A>C (p.Pro184=)
n.270A>C
c.456A>C (p.Pro152=)
5g.70946095A>GCA444972421SMN1c.753A>G (p.Pro251=)
c.657A>G (p.Pro219=)
n.7A>G
n.320A>G
c.552A>G (p.Pro184=)
n.270A>G
c.456A>G (p.Pro152=)
5g.70946095A>TCA444972424SMN1c.753A>T (p.Pro251=)
c.657A>T (p.Pro219=)
n.7A>T
n.320A>T
c.552A>T (p.Pro184=)
n.270A>T
c.456A>T (p.Pro152=)
5g.70946096G>ACA360096721SMN1c.754G>A (p.Asp252Asn)
c.658G>A (p.Asp220Asn)
n.8G>A
n.321G>A
c.553G>A (p.Asp185Asn)
n.271G>A
c.457G>A (p.Asp153Asn)
5g.70946096G>CCA360096726SMN1c.754G>C (p.Asp252His)
c.658G>C (p.Asp220His)
n.8G>C
n.321G>C
c.553G>C (p.Asp185His)
n.271G>C
c.457G>C (p.Asp153His)
5g.70946096G>TCA360096729SMN1c.754G>T (p.Asp252Tyr)
c.658G>T (p.Asp220Tyr)
n.8G>T
n.321G>T
c.553G>T (p.Asp185Tyr)
n.271G>T
c.457G>T (p.Asp153Tyr)
5g.70946097A>CCA360096735SMN1c.755A>C (p.Asp252Ala)
c.659A>C (p.Asp220Ala)
n.9A>C
n.322A>C
c.554A>C (p.Asp185Ala)
n.272A>C
c.458A>C (p.Asp153Ala)
5g.70946097A>GCA360096737SMN1c.755A>G (p.Asp252Gly)
c.659A>G (p.Asp220Gly)
n.9A>G
n.322A>G
c.554A>G (p.Asp185Gly)
n.272A>G
c.458A>G (p.Asp153Gly)
5g.70946097A>TCA360096740SMN1c.755A>T (p.Asp252Val)
c.659A>T (p.Asp220Val)
n.9A>T
n.322A>T
c.554A>T (p.Asp185Val)
n.272A>T
c.458A>T (p.Asp153Val)
5g.70946098T>ACA360096744SMN1c.756T>A (p.Asp252Glu)
c.660T>A (p.Asp220Glu)
n.10T>A
n.323T>A
c.555T>A (p.Asp185Glu)
n.273T>A
c.459T>A (p.Asp153Glu)
5g.70946098T>CCA444972459SMN1c.756T>C (p.Asp252=)
c.660T>C (p.Asp220=)
n.10T>C
n.323T>C
c.555T>C (p.Asp185=)
n.273T>C
c.459T>C (p.Asp153=)
5g.70946098T>GCA360096747SMN1c.756T>G (p.Asp252Glu)
c.660T>G (p.Asp220Glu)
n.10T>G
n.323T>G
c.555T>G (p.Asp185Glu)
n.273T>G
c.459T>G (p.Asp153Glu)
5g.70946099T>ACA360096754SMN1c.757T>A (p.Ser253Thr)
c.661T>A (p.Ser221Thr)
n.11T>A
n.324T>A
c.556T>A (p.Ser186Thr)
n.274T>A
c.460T>A (p.Ser154Thr)
5g.70946099T>CCA360096757SMN1c.757T>C (p.Ser253Pro)
c.661T>C (p.Ser221Pro)
n.11T>C
n.324T>C
c.556T>C (p.Ser186Pro)
n.274T>C
c.460T>C (p.Ser154Pro)
5g.70946099T>GCA360096751SMN1c.757T>G (p.Ser253Ala)
c.661T>G (p.Ser221Ala)
n.11T>G
n.324T>G
c.556T>G (p.Ser186Ala)
n.274T>G
c.460T>G (p.Ser154Ala)
5g.70946100C>ACA360096768SMN1c.758C>A (p.Ser253Tyr)
c.662C>A (p.Ser221Tyr)
n.12C>A
n.325C>A
c.557C>A (p.Ser186Tyr)
n.275C>A
c.461C>A (p.Ser154Tyr)
5g.70946100C>GCA360096762SMN1c.758C>G (p.Ser253Cys)
c.662C>G (p.Ser221Cys)
n.12C>G
n.325C>G
c.557C>G (p.Ser186Cys)
n.275C>G
c.461C>G (p.Ser154Cys)
5g.70946100C>TCA360096765SMN1c.758C>T (p.Ser253Phe)
c.662C>T (p.Ser221Phe)
n.12C>T
n.325C>T
c.557C>T (p.Ser186Phe)
n.275C>T
c.461C>T (p.Ser154Phe)
5g.70946101T>ACA444972500SMN1c.759T>A (p.Ser253=)
c.663T>A (p.Ser221=)
n.13T>A
n.326T>A
c.558T>A (p.Ser186=)
n.276T>A
c.462T>A (p.Ser154=)
5g.70946101T>CCA444972496SMN1c.759T>C (p.Ser253=)
c.663T>C (p.Ser221=)
n.13T>C
n.326T>C
c.558T>C (p.Ser186=)
n.276T>C
c.462T>C (p.Ser154=)
5g.70946101T>GCA444972489SMN1c.759T>G (p.Ser253=)
c.663T>G (p.Ser221=)
n.13T>G
n.326T>G
c.558T>G (p.Ser186=)
n.276T>G
c.462T>G (p.Ser154=)
5g.70946102C>ACA360096772SMN1c.760C>A (p.Leu254Ile)
c.664C>A (p.Leu222Ile)
n.14C>A
n.327C>A
c.559C>A (p.Leu187Ile)
n.277C>A
c.463C>A (p.Leu155Ile)
5g.70946102C>GCA360096775SMN1c.760C>G (p.Leu254Val)
c.664C>G (p.Leu222Val)
n.14C>G
n.327C>G
c.559C>G (p.Leu187Val)
n.277C>G
c.463C>G (p.Leu155Val)
5g.70946102C>TCA360096778SMN1c.760C>T (p.Leu254Phe)
c.664C>T (p.Leu222Phe)
n.14C>T
n.327C>T
c.559C>T (p.Leu187Phe)
n.277C>T
c.463C>T (p.Leu155Phe)
5g.70946103T>ACA360096782SMN1c.761T>A (p.Leu254His)
c.665T>A (p.Leu222His)
n.15T>A
n.328T>A
c.560T>A (p.Leu187His)
n.278T>A
c.464T>A (p.Leu155His)
5g.70946103T>CCA360096784SMN1c.761T>C (p.Leu254Pro)
c.665T>C (p.Leu222Pro)
n.15T>C
n.328T>C
c.560T>C (p.Leu187Pro)
n.278T>C
c.464T>C (p.Leu155Pro)
5g.70946103T>GCA360096788SMN1c.761T>G (p.Leu254Arg)
c.665T>G (p.Leu222Arg)
n.15T>G
n.328T>G
c.560T>G (p.Leu187Arg)
n.278T>G
c.464T>G (p.Leu155Arg)
5g.70946104T>ACA444972537SMN1c.762T>A (p.Leu254=)
c.666T>A (p.Leu222=)
n.16T>A
n.329T>A
c.561T>A (p.Leu187=)
n.279T>A
c.465T>A (p.Leu155=)
5g.70946104T>CCA444972544SMN1c.762T>C (p.Leu254=)
c.666T>C (p.Leu222=)
n.16T>C
n.329T>C
c.561T>C (p.Leu187=)
n.279T>C
c.465T>C (p.Leu155=)
5g.70946104T>GCA444972539SMN1c.762T>G (p.Leu254=)
c.666T>G (p.Leu222=)
n.16T>G
n.329T>G
c.561T>G (p.Leu187=)
n.279T>G
c.465T>G (p.Leu155=)
5g.70946105G>ACA360096794SMN1c.763G>A (p.Asp255Asn)
c.667G>A (p.Asp223Asn)
n.17G>A
n.330G>A
c.562G>A (p.Asp188Asn)
n.280G>A
c.466G>A (p.Asp156Asn)
5g.70946105G>CCA360096796SMN1c.763G>C (p.Asp255His)
c.667G>C (p.Asp223His)
n.17G>C
n.330G>C
c.562G>C (p.Asp188His)
n.280G>C
c.466G>C (p.Asp156His)
5g.70946105G>TCA360096800SMN1c.763G>T (p.Asp255Tyr)
c.667G>T (p.Asp223Tyr)
n.17G>T
n.330G>T
c.562G>T (p.Asp188Tyr)
n.280G>T
c.466G>T (p.Asp156Tyr)
5g.70946106A>CCA360096809SMN1c.764A>C (p.Asp255Ala)
c.668A>C (p.Asp223Ala)
n.18A>C
n.331A>C
c.563A>C (p.Asp188Ala)
n.281A>C
c.467A>C (p.Asp156Ala)
5g.70946106A>GCA360096807SMN1c.764A>G (p.Asp255Gly)
c.668A>G (p.Asp223Gly)
n.18A>G
n.331A>G
c.563A>G (p.Asp188Gly)
n.281A>G
c.467A>G (p.Asp156Gly)
5g.70946106A>TCA360096805SMN1c.764A>T (p.Asp255Val)
c.668A>T (p.Asp223Val)
n.18A>T
n.331A>T
c.563A>T (p.Asp188Val)
n.281A>T
c.467A>T (p.Asp156Val)
5g.70946107T>ACA360096812SMN1c.765T>A (p.Asp255Glu)
c.669T>A (p.Asp223Glu)
n.19T>A
n.332T>A
c.564T>A (p.Asp188Glu)
n.282T>A
c.468T>A (p.Asp156Glu)
5g.70946107T>CCA444972569SMN1c.765T>C (p.Asp255=)
c.669T>C (p.Asp223=)
n.19T>C
n.332T>C
c.564T>C (p.Asp188=)
n.282T>C
c.468T>C (p.Asp156=)
 dbSNP
5g.70946107T>GCA360096815SMN1c.765T>G (p.Asp255Glu)
c.669T>G (p.Asp223Glu)
n.19T>G
n.332T>G
c.564T>G (p.Asp188Glu)
n.282T>G
c.468T>G (p.Asp156Glu)
5g.70946107T=CA1554172349SMN1c.765T= (p.Asp255=)
c.669T= (p.Asp223=)
n.19T=
n.332T=
c.564T= (p.Asp188=)
n.282T=
c.468T= (p.Asp156=)
5g.70946108G>ACA360096821SMN1c.766G>A (p.Asp256Asn)
c.670G>A (p.Asp224Asn)
n.20G>A
n.333G>A
c.565G>A (p.Asp189Asn)
n.283G>A
c.469G>A (p.Asp157Asn)
5g.70946108G>CCA360096824SMN1c.766G>C (p.Asp256His)
c.670G>C (p.Asp224His)
n.20G>C
n.333G>C
c.565G>C (p.Asp189His)
n.283G>C
c.469G>C (p.Asp157His)
5g.70946108G>TCA360096827SMN1c.766G>T (p.Asp256Tyr)
c.670G>T (p.Asp224Tyr)
n.20G>T
n.333G>T
c.565G>T (p.Asp189Tyr)
n.283G>T
c.469G>T (p.Asp157Tyr)
5g.70946109A=CA1554172350SMN1c.767A= (p.Asp256=)
c.671A= (p.Asp224=)
n.21A=
n.334A=
c.566A= (p.Asp189=)
n.284A=
c.470A= (p.Asp157=)
5g.70946109A>CCA360096831SMN1c.767A>C (p.Asp256Ala)
c.671A>C (p.Asp224Ala)
n.21A>C
n.334A>C
c.566A>C (p.Asp189Ala)
n.284A>C
c.470A>C (p.Asp157Ala)
5g.70946109A>GCA360096833SMN1c.767A>G (p.Asp256Gly)
c.671A>G (p.Asp224Gly)
n.21A>G
n.334A>G
c.566A>G (p.Asp189Gly)
n.284A>G
c.470A>G (p.Asp157Gly)
5g.70946109A>TCA360096835SMN1c.767A>T (p.Asp256Val)
c.671A>T (p.Asp224Val)
n.21A>T
n.334A>T
c.566A>T (p.Asp189Val)
n.284A>T
c.470A>T (p.Asp157Val)
5g.70946110T>ACA360096838SMN1c.768T>A (p.Asp256Glu)
c.672T>A (p.Asp224Glu)
n.22T>A
n.335T>A
c.567T>A (p.Asp189Glu)
n.285T>A
c.471T>A (p.Asp157Glu)
5g.70946110T>CCA444972612SMN1c.768T>C (p.Asp256=)
c.672T>C (p.Asp224=)
n.22T>C
n.335T>C
c.567T>C (p.Asp189=)
n.285T>C
c.471T>C (p.Asp157=)
5g.70946110T>GCA360096840SMN1c.768T>G (p.Asp256Glu)
c.672T>G (p.Asp224Glu)
n.22T>G
n.335T>G
c.567T>G (p.Asp189Glu)
n.285T>G
c.471T>G (p.Asp157Glu)
5g.70946112_70946122dupCA891843195SMN1c.770_780dup (p.Gly261LeufsTer8)
c.674_684dup (p.Gly229LeufsTer8)
n.24_34dup
n.337_347dup
c.569_579dup (p.Gly194LeufsTer8)
n.287_297dup
c.473_483dup (p.Gly162LeufsTer8)
 ClinVar dbSNP
5g.70946111G>ACA120725212SMN1c.769G>A (p.Ala257Thr)
c.673G>A (p.Ala225Thr)
n.23G>A
n.336G>A
c.568G>A (p.Ala190Thr)
n.286G>A
c.472G>A (p.Ala158Thr)
 dbSNP
5g.70946111G>CCA360096848SMN1c.769G>C (p.Ala257Pro)
c.673G>C (p.Ala225Pro)
n.23G>C
n.336G>C
c.568G>C (p.Ala190Pro)
n.286G>C
c.472G>C (p.Ala158Pro)
5g.70946111G=CA1554172351SMN1c.769G= (p.Ala257=)
c.673G= (p.Ala225=)
n.23G=
n.336G=
c.568G= (p.Ala190=)
n.286G=
c.472G= (p.Ala158=)
5g.70946111G>TCA360096851SMN1c.769G>T (p.Ala257Ser)
c.673G>T (p.Ala225Ser)
n.23G>T
n.336G>T
c.568G>T (p.Ala190Ser)
n.286G>T
c.472G>T (p.Ala158Ser)
5g.70946112C>ACA360096858SMN1c.770C>A (p.Ala257Asp)
c.674C>A (p.Ala225Asp)
n.24C>A
n.337C>A
c.569C>A (p.Ala190Asp)
n.287C>A
c.473C>A (p.Ala158Asp)
5g.70946112C>GCA360096861SMN1c.770C>G (p.Ala257Gly)
c.674C>G (p.Ala225Gly)
n.24C>G
n.337C>G
c.569C>G (p.Ala190Gly)
n.287C>G
c.473C>G (p.Ala158Gly)
5g.70946112C>TCA360096855SMN1c.770C>T (p.Ala257Val)
c.674C>T (p.Ala225Val)
n.24C>T
n.337C>T
c.569C>T (p.Ala190Val)
n.287C>T
c.473C>T (p.Ala158Val)
5g.70946113T>ACA444972677SMN1c.771T>A (p.Ala257=)
c.675T>A (p.Ala225=)
n.25T>A
n.338T>A
c.570T>A (p.Ala190=)
n.288T>A
c.474T>A (p.Ala158=)
5g.70946113T>CCA444972681SMN1c.771T>C (p.Ala257=)
c.675T>C (p.Ala225=)
n.25T>C
n.338T>C
c.570T>C (p.Ala190=)
n.288T>C
c.474T>C (p.Ala158=)
5g.70946113T>GCA444972682SMN1c.771T>G (p.Ala257=)
c.675T>G (p.Ala225=)
n.25T>G
n.338T>G
c.570T>G (p.Ala190=)
n.288T>G
c.474T>G (p.Ala158=)
5g.70946114G>ACA360096866SMN1c.772G>A (p.Asp258Asn)
c.676G>A (p.Asp226Asn)
n.26G>A
n.339G>A
c.571G>A (p.Asp191Asn)
n.289G>A
c.475G>A (p.Asp159Asn)
5g.70946114G>CCA360096868SMN1c.772G>C (p.Asp258His)
c.676G>C (p.Asp226His)
n.26G>C
n.339G>C
c.571G>C (p.Asp191His)
n.289G>C
c.475G>C (p.Asp159His)
5g.70946114G>TCA360096872SMN1c.772G>T (p.Asp258Tyr)
c.676G>T (p.Asp226Tyr)
n.26G>T
n.339G>T
c.571G>T (p.Asp191Tyr)
n.289G>T
c.475G>T (p.Asp159Tyr)
5g.70946115A>CCA360096878SMN1c.773A>C (p.Asp258Ala)
c.677A>C (p.Asp226Ala)
n.27A>C
n.340A>C
c.572A>C (p.Asp191Ala)
n.290A>C
c.476A>C (p.Asp159Ala)
5g.70946115A>GCA360096880SMN1c.773A>G (p.Asp258Gly)
c.677A>G (p.Asp226Gly)
n.27A>G
n.340A>G
c.572A>G (p.Asp191Gly)
n.290A>G
c.476A>G (p.Asp159Gly)
5g.70946115A>TCA360096883SMN1c.773A>T (p.Asp258Val)
c.677A>T (p.Asp226Val)
n.27A>T
n.340A>T
c.572A>T (p.Asp191Val)
n.290A>T
c.476A>T (p.Asp159Val)
5g.70946116T>ACA360096887SMN1c.774T>A (p.Asp258Glu)
c.678T>A (p.Asp226Glu)
n.28T>A
n.341T>A
c.573T>A (p.Asp191Glu)
n.291T>A
c.477T>A (p.Asp159Glu)
5g.70946116T>CCA444972704SMN1c.774T>C (p.Asp258=)
c.678T>C (p.Asp226=)
n.28T>C
n.341T>C
c.573T>C (p.Asp191=)
n.291T>C
c.477T>C (p.Asp159=)
5g.70946116T>GCA360096890SMN1c.774T>G (p.Asp258Glu)
c.678T>G (p.Asp226Glu)
n.28T>G
n.341T>G
c.573T>G (p.Asp191Glu)
n.291T>G
c.477T>G (p.Asp159Glu)
5g.70946117G>ACA360096895SMN1c.775G>A (p.Ala259Thr)
c.679G>A (p.Ala227Thr)
n.29G>A
n.342G>A
c.574G>A (p.Ala192Thr)
n.292G>A
c.478G>A (p.Ala160Thr)
5g.70946117G>CCA360096897SMN1c.775G>C (p.Ala259Pro)
c.679G>C (p.Ala227Pro)
n.29G>C
n.342G>C
c.574G>C (p.Ala192Pro)
n.292G>C
c.478G>C (p.Ala160Pro)
5g.70946117G>TCA360096899SMN1c.775G>T (p.Ala259Ser)
c.679G>T (p.Ala227Ser)
n.29G>T
n.342G>T
c.574G>T (p.Ala192Ser)
n.292G>T
c.478G>T (p.Ala160Ser)
5g.70946118C>ACA360096903SMN1c.776C>A (p.Ala259Asp)
c.680C>A (p.Ala227Asp)
n.30C>A
n.343C>A
c.575C>A (p.Ala192Asp)
n.293C>A
c.479C>A (p.Ala160Asp)
 gnomAD v4
5g.70946118C>GCA360096907SMN1c.776C>G (p.Ala259Gly)
c.680C>G (p.Ala227Gly)
n.30C>G
n.343C>G
c.575C>G (p.Ala192Gly)
n.293C>G
c.479C>G (p.Ala160Gly)
5g.70946118C>TCA360096909SMN1c.776C>T (p.Ala259Val)
c.680C>T (p.Ala227Val)
n.30C>T
n.343C>T
c.575C>T (p.Ala192Val)
n.293C>T
c.479C>T (p.Ala160Val)
5g.70946119T>ACA444972751SMN1c.777T>A (p.Ala259=)
c.681T>A (p.Ala227=)
n.31T>A
n.344T>A
c.576T>A (p.Ala192=)
n.294T>A
c.480T>A (p.Ala160=)
5g.70946119T>CCA444972764SMN1c.777T>C (p.Ala259=)
c.681T>C (p.Ala227=)
n.31T>C
n.344T>C
c.576T>C (p.Ala192=)
n.294T>C
c.480T>C (p.Ala160=)
5g.70946119T>GCA444972759SMN1c.777T>G (p.Ala259=)
c.681T>G (p.Ala227=)
n.31T>G
n.344T>G
c.576T>G (p.Ala192=)
n.294T>G
c.480T>G (p.Ala160=)
5g.70946120T>ACA360096916SMN1c.778T>A (p.Leu260Met)
c.682T>A (p.Leu228Met)
n.32T>A
n.345T>A
c.577T>A (p.Leu193Met)
n.295T>A
c.481T>A (p.Leu161Met)
5g.70946120T>CCA444972767SMN1c.778T>C (p.Leu260=)
c.682T>C (p.Leu228=)
n.32T>C
n.345T>C
c.577T>C (p.Leu193=)
n.295T>C
c.481T>C (p.Leu161=)
5g.70946120T>GCA360096914SMN1c.778T>G (p.Leu260Val)
c.682T>G (p.Leu228Val)
n.32T>G
n.345T>G
c.577T>G (p.Leu193Val)
n.295T>G
c.481T>G (p.Leu161Val)
5g.70946121T>ACA360096918SMN1c.779T>A (p.Leu260Ter)
c.683T>A (p.Leu228Ter)
n.33T>A
n.346T>A
c.578T>A (p.Leu193Ter)
n.296T>A
c.482T>A (p.Leu161Ter)
5g.70946121T>CCA360096920SMN1c.779T>C (p.Leu260Ser)
c.683T>C (p.Leu228Ser)
n.33T>C
n.346T>C
c.578T>C (p.Leu193Ser)
n.296T>C
c.482T>C (p.Leu161Ser)
5g.70946121T>GCA360096923SMN1c.779T>G (p.Leu260Trp)
c.683T>G (p.Leu228Trp)
n.33T>G
n.346T>G
c.578T>G (p.Leu193Trp)
n.296T>G
c.482T>G (p.Leu161Trp)
5g.70946122G>ACA444972783SMN1c.780G>A (p.Leu260=)
c.684G>A (p.Leu228=)
n.34G>A
n.347G>A
c.579G>A (p.Leu193=)
n.297G>A
c.483G>A (p.Leu161=)
5g.70946122G>CCA360096926SMN1c.780G>C (p.Leu260Phe)
c.684G>C (p.Leu228Phe)
n.34G>C
n.347G>C
c.579G>C (p.Leu193Phe)
n.297G>C
c.483G>C (p.Leu161Phe)
5g.70946122G>TCA360096930SMN1c.780G>T (p.Leu260Phe)
c.684G>T (p.Leu228Phe)
n.34G>T
n.347G>T
c.579G>T (p.Leu193Phe)
n.297G>T
c.483G>T (p.Leu161Phe)
 gnomAD v4
5g.70946123G>ACA360096939SMN1c.781G>A (p.Gly261Arg)
c.685G>A (p.Gly229Arg)
n.35G>A
n.348G>A
c.580G>A (p.Gly194Arg)
n.298G>A
c.484G>A (p.Gly162Arg)
5g.70946123G>CCA360096936SMN1c.781G>C (p.Gly261Arg)
c.685G>C (p.Gly229Arg)
n.35G>C
n.348G>C
c.580G>C (p.Gly194Arg)
n.298G>C
c.484G>C (p.Gly162Arg)
5g.70946123G>TCA360096934SMN1c.781G>T (p.Gly261Ter)
c.685G>T (p.Gly229Ter)
n.35G>T
n.348G>T
c.580G>T (p.Gly194Ter)
n.298G>T
c.484G>T (p.Gly162Ter)
 gnomAD v4
5g.70946124G>ACA360096943SMN1c.782G>A (p.Gly261Glu)
c.686G>A (p.Gly229Glu)
n.36G>A
n.349G>A
c.581G>A (p.Gly194Glu)
n.299G>A
c.485G>A (p.Gly162Glu)
5g.70946124G>CCA360096945SMN1c.782G>C (p.Gly261Ala)
c.686G>C (p.Gly229Ala)
n.36G>C
n.349G>C
c.581G>C (p.Gly194Ala)
n.299G>C
c.485G>C (p.Gly162Ala)
5g.70946124G>TCA360096948SMN1c.782G>T (p.Gly261Val)
c.686G>T (p.Gly229Val)
n.36G>T
n.349G>T
c.581G>T (p.Gly194Val)
n.299G>T
c.485G>T (p.Gly162Val)
 gnomAD v4
5g.70946125A>CCA444972817SMN1c.783A>C (p.Gly261=)
c.687A>C (p.Gly229=)
n.37A>C
n.350A>C
c.582A>C (p.Gly194=)
n.300A>C
c.486A>C (p.Gly162=)
5g.70946125A>GCA444972819SMN1c.783A>G (p.Gly261=)
c.687A>G (p.Gly229=)
n.37A>G
n.350A>G
c.582A>G (p.Gly194=)
n.300A>G
c.486A>G (p.Gly162=)
5g.70946125A>TCA444972818SMN1c.783A>T (p.Gly261=)
c.687A>T (p.Gly229=)
n.37A>T
n.350A>T
c.582A>T (p.Gly194=)
n.300A>T
c.486A>T (p.Gly162=)
 gnomAD v3 gnomAD v4
5g.70946126A=CA1554172352SMN1c.784A= (p.Ser262=)
c.688A= (p.Ser230=)
n.38A=
n.351A=
c.583A= (p.Ser195=)
n.301A=
c.487A= (p.Ser163=)
5g.70946126A>CCA360096952SMN1c.784A>C (p.Ser262Arg)
c.688A>C (p.Ser230Arg)
n.38A>C
n.351A>C
c.583A>C (p.Ser195Arg)
n.301A>C
c.487A>C (p.Ser163Arg)
5g.70946126A>GCA254694SMN1c.784A>G (p.Ser262Gly)
c.688A>G (p.Ser230Gly)
n.38A>G
n.351A>G
c.583A>G (p.Ser195Gly)
n.301A>G
c.487A>G (p.Ser163Gly)
 ClinVar dbSNP
5g.70946126A>TCA360096954SMN1c.784A>T (p.Ser262Cys)
c.688A>T (p.Ser230Cys)
n.38A>T
n.351A>T
c.583A>T (p.Ser195Cys)
n.301A>T
c.487A>T (p.Ser163Cys)
5g.70946127G>ACA360096956SMN1c.785G>A (p.Ser262Asn)
c.689G>A (p.Ser230Asn)
n.39G>A
n.352G>A
c.584G>A (p.Ser195Asn)
n.302G>A
c.488G>A (p.Ser163Asn)
5g.70946127G>CCA360096960SMN1c.785G>C (p.Ser262Thr)
c.689G>C (p.Ser230Thr)
n.39G>C
n.352G>C
c.584G>C (p.Ser195Thr)
n.302G>C
c.488G>C (p.Ser163Thr)
5g.70946127G=CA1554172353SMN1c.785G= (p.Ser262=)
c.689G= (p.Ser230=)
n.39G=
n.352G=
c.584G= (p.Ser195=)
n.302G=
c.488G= (p.Ser163=)
5g.70946127G>TCA254675SMN1c.785G>T (p.Ser262Ile)
c.689G>T (p.Ser230Ile)
n.39G>T
n.352G>T
c.584G>T (p.Ser195Ile)
n.302G>T
c.488G>T (p.Ser163Ile)
 ClinVar dbSNP
5g.70946128T>ACA360096964SMN1c.786T>A (p.Ser262Arg)
c.690T>A (p.Ser230Arg)
n.40T>A
n.353T>A
c.585T>A (p.Ser195Arg)
n.303T>A
c.489T>A (p.Ser163Arg)
5g.70946128T>CCA444972852SMN1c.786T>C (p.Ser262=)
c.690T>C (p.Ser230=)
n.40T>C
n.353T>C
c.585T>C (p.Ser195=)
n.303T>C
c.489T>C (p.Ser163=)
5g.70946128T>GCA360096967SMN1c.786T>G (p.Ser262Arg)
c.690T>G (p.Ser230Arg)
n.40T>G
n.353T>G
c.585T>G (p.Ser195Arg)
n.303T>G
c.489T>G (p.Ser163Arg)
5g.70946129A>CCA360096971SMN1c.787A>C (p.Met263Leu)
c.691A>C (p.Met231Leu)
n.41A>C
n.354A>C
c.586A>C (p.Met196Leu)
n.304A>C
c.490A>C (p.Met164Leu)
5g.70946129A>GCA360096977SMN1c.787A>G (p.Met263Val)
c.691A>G (p.Met231Val)
n.41A>G
n.354A>G
c.586A>G (p.Met196Val)
n.304A>G
c.490A>G (p.Met164Val)
5g.70946129A>TCA360096974SMN1c.787A>T (p.Met263Leu)
c.691A>T (p.Met231Leu)
n.41A>T
n.354A>T
c.586A>T (p.Met196Leu)
n.304A>T
c.490A>T (p.Met164Leu)
 gnomAD v3 gnomAD v4
5g.70946130T>ACA360096982SMN1c.788T>A (p.Met263Lys)
c.692T>A (p.Met231Lys)
n.42T>A
n.355T>A
c.587T>A (p.Met196Lys)
n.305T>A
c.491T>A (p.Met164Lys)
5g.70946130T>CCA360096984SMN1c.788T>C (p.Met263Thr)
c.692T>C (p.Met231Thr)
n.42T>C
n.355T>C
c.587T>C (p.Met196Thr)
n.305T>C
c.491T>C (p.Met164Thr)
5g.70946130T>GCA360096988SMN1c.788T>G (p.Met263Arg)
c.692T>G (p.Met231Arg)
n.42T>G
n.355T>G
c.587T>G (p.Met196Arg)
n.305T>G
c.491T>G (p.Met164Arg)
5g.70946131G>ACA360096994SMN1c.789G>A (p.Met263Ile)
c.693G>A (p.Met231Ile)
n.43G>A
n.356G>A
c.588G>A (p.Met196Ile)
n.306G>A
c.492G>A (p.Met164Ile)
5g.70946131G>CCA360096995SMN1c.789G>C (p.Met263Ile)
c.693G>C (p.Met231Ile)
n.43G>C
n.356G>C
c.588G>C (p.Met196Ile)
n.306G>C
c.492G>C (p.Met164Ile)
5g.70946131G>TCA360096996SMN1c.789G>T (p.Met263Ile)
c.693G>T (p.Met231Ile)
n.43G>T
n.356G>T
c.588G>T (p.Met196Ile)
n.306G>T
c.492G>T (p.Met164Ile)
5g.70946132T>ACA360096999SMN1c.790T>A (p.Leu264Ile)
c.694T>A (p.Leu232Ile)
n.44T>A
n.357T>A
c.589T>A (p.Leu197Ile)
n.307T>A
c.493T>A (p.Leu165Ile)
5g.70946132T>CCA444972912SMN1c.790T>C (p.Leu264=)
c.694T>C (p.Leu232=)
n.44T>C
n.357T>C
c.589T>C (p.Leu197=)
n.307T>C
c.493T>C (p.Leu165=)
5g.70946132T>GCA360097002SMN1c.790T>G (p.Leu264Val)
c.694T>G (p.Leu232Val)
n.44T>G
n.357T>G
c.589T>G (p.Leu197Val)
n.307T>G
c.493T>G (p.Leu165Val)
5g.70946133T>ACA360097007SMN1c.791T>A (p.Leu264Ter)
c.695T>A (p.Leu232Ter)
n.45T>A
n.358T>A
c.590T>A (p.Leu197Ter)
n.308T>A
c.494T>A (p.Leu165Ter)
5g.70946133T>CCA360097009SMN1c.791T>C (p.Leu264Ser)
c.695T>C (p.Leu232Ser)
n.45T>C
n.358T>C
c.590T>C (p.Leu197Ser)
n.308T>C
c.494T>C (p.Leu165Ser)
5g.70946133T>GCA360097010SMN1c.791T>G (p.Leu264Ter)
c.695T>G (p.Leu232Ter)
n.45T>G
n.358T>G
c.590T>G (p.Leu197Ter)
n.308T>G
c.494T>G (p.Leu165Ter)
5g.70946134A>CCA360097012SMN1c.792A>C (p.Leu264Phe)
c.696A>C (p.Leu232Phe)
n.46A>C
n.359A>C
c.591A>C (p.Leu197Phe)
n.309A>C
c.495A>C (p.Leu165Phe)
 gnomAD v4
5g.70946134A>GCA444972926SMN1c.792A>G (p.Leu264=)
c.696A>G (p.Leu232=)
n.46A>G
n.359A>G
c.591A>G (p.Leu197=)
n.309A>G
c.495A>G (p.Leu165=)
5g.70946134A>TCA360097014SMN1c.792A>T (p.Leu264Phe)
c.696A>T (p.Leu232Phe)
n.46A>T
n.359A>T
c.591A>T (p.Leu197Phe)
n.309A>T
c.495A>T (p.Leu165Phe)
5g.70946135A>CCA360097024SMN1c.793A>C (p.Ile265Leu)
c.697A>C (p.Ile233Leu)
n.47A>C
n.360A>C
c.592A>C (p.Ile198Leu)
n.310A>C
c.496A>C (p.Ile166Leu)
5g.70946135A>GCA360097021SMN1c.793A>G (p.Ile265Val)
c.697A>G (p.Ile233Val)
n.47A>G
n.360A>G
c.592A>G (p.Ile198Val)
n.310A>G
c.496A>G (p.Ile166Val)
5g.70946135A>TCA360097018SMN1c.793A>T (p.Ile265Phe)
c.697A>T (p.Ile233Phe)
n.47A>T
n.360A>T
c.592A>T (p.Ile198Phe)
n.310A>T
c.496A>T (p.Ile166Phe)
5g.70946136T>ACA360097029SMN1c.794T>A (p.Ile265Asn)
c.698T>A (p.Ile233Asn)
n.48T>A
n.361T>A
c.593T>A (p.Ile198Asn)
n.311T>A
c.497T>A (p.Ile166Asn)
5g.70946136T>CCA360097037SMN1c.794T>C (p.Ile265Thr)
c.698T>C (p.Ile233Thr)
n.48T>C
n.361T>C
c.593T>C (p.Ile198Thr)
n.311T>C
c.497T>C (p.Ile166Thr)
5g.70946136T>GCA360097041SMN1c.794T>G (p.Ile265Ser)
c.698T>G (p.Ile233Ser)
n.48T>G
n.361T>G
c.593T>G (p.Ile198Ser)
n.311T>G
c.497T>G (p.Ile166Ser)
5g.70946137T>ACA444972963SMN1c.795T>A (p.Ile265=)
c.699T>A (p.Ile233=)
n.49T>A
n.362T>A
c.594T>A (p.Ile198=)
n.312T>A
c.498T>A (p.Ile166=)
5g.70946137T>CCA444972972SMN1c.795T>C (p.Ile265=)
c.699T>C (p.Ile233=)
n.49T>C
n.362T>C
c.594T>C (p.Ile198=)
n.312T>C
c.498T>C (p.Ile166=)
5g.70946137T>GCA360097046SMN1c.795T>G (p.Ile265Met)
c.699T>G (p.Ile233Met)
n.49T>G
n.362T>G
c.594T>G (p.Ile198Met)
n.312T>G
c.498T>G (p.Ile166Met)
5g.70946138T>ACA360097049SMN1c.796T>A (p.Ser266Thr)
c.700T>A (p.Ser234Thr)
n.50T>A
n.363T>A
c.595T>A (p.Ser199Thr)
n.313T>A
c.499T>A (p.Ser167Thr)
5g.70946138T>CCA360097052SMN1c.796T>C (p.Ser266Pro)
c.700T>C (p.Ser234Pro)
n.50T>C
n.363T>C
c.595T>C (p.Ser199Pro)
n.313T>C
c.499T>C (p.Ser167Pro)
 ClinVar dbSNP
5g.70946138T>GCA360097055SMN1c.796T>G (p.Ser266Ala)
c.700T>G (p.Ser234Ala)
n.50T>G
n.363T>G
c.595T>G (p.Ser199Ala)
n.313T>G
c.499T>G (p.Ser167Ala)
5g.70946138T=CA1554172354SMN1c.796T= (p.Ser266=)
c.700T= (p.Ser234=)
n.50T=
n.363T=
c.595T= (p.Ser199=)
n.313T=
c.499T= (p.Ser167=)
5g.70946139C>ACA360097059SMN1c.797C>A (p.Ser266Ter)
c.701C>A (p.Ser234Ter)
n.51C>A
n.364C>A
c.596C>A (p.Ser199Ter)
n.314C>A
c.500C>A (p.Ser167Ter)
5g.70946139C>GCA360097069SMN1c.797C>G (p.Ser266Ter)
c.701C>G (p.Ser234Ter)
n.51C>G
n.364C>G
c.596C>G (p.Ser199Ter)
n.314C>G
c.500C>G (p.Ser167Ter)
5g.70946139C>TCA360097072SMN1c.797C>T (p.Ser266Leu)
c.701C>T (p.Ser234Leu)
n.51C>T
n.364C>T
c.596C>T (p.Ser199Leu)
n.314C>T
c.500C>T (p.Ser167Leu)
5g.70946140A>CCA444972992SMN1c.798A>C (p.Ser266=)
c.702A>C (p.Ser234=)
n.52A>C
n.365A>C
c.597A>C (p.Ser199=)
n.315A>C
c.501A>C (p.Ser167=)
5g.70946140A>GCA444973003SMN1c.798A>G (p.Ser266=)
c.702A>G (p.Ser234=)
n.52A>G
n.365A>G
c.597A>G (p.Ser199=)
n.315A>G
c.501A>G (p.Ser167=)
 gnomAD v4
5g.70946140A>TCA444972997SMN1c.798A>T (p.Ser266=)
c.702A>T (p.Ser234=)
n.52A>T
n.365A>T
c.597A>T (p.Ser199=)
n.315A>T
c.501A>T (p.Ser167=)
5g.70946141T>ACA360097077SMN1c.799T>A (p.Trp267Arg)
c.703T>A (p.Trp235Arg)
n.53T>A
n.366T>A
c.598T>A (p.Trp200Arg)
n.316T>A
c.502T>A (p.Trp168Arg)
5g.70946141T>CCA360097082SMN1c.799T>C (p.Trp267Arg)
c.703T>C (p.Trp235Arg)
n.53T>C
n.366T>C
c.598T>C (p.Trp200Arg)
n.316T>C
c.502T>C (p.Trp168Arg)
5g.70946141T>GCA360097085SMN1c.799T>G (p.Trp267Gly)
c.703T>G (p.Trp235Gly)
n.53T>G
n.366T>G
c.598T>G (p.Trp200Gly)
n.316T>G
c.502T>G (p.Trp168Gly)
5g.70946142G>ACA360097092SMN1c.800G>A (p.Trp267Ter)
c.704G>A (p.Trp235Ter)
n.54G>A
n.367G>A
c.599G>A (p.Trp200Ter)
n.317G>A
c.503G>A (p.Trp168Ter)
5g.70946142G>CCA360097095SMN1c.800G>C (p.Trp267Ser)
c.704G>C (p.Trp235Ser)
n.54G>C
n.367G>C
c.599G>C (p.Trp200Ser)
n.317G>C
c.503G>C (p.Trp168Ser)
5g.70946142G>TCA360097088SMN1c.800G>T (p.Trp267Leu)
c.704G>T (p.Trp235Leu)
n.54G>T
n.367G>T
c.599G>T (p.Trp200Leu)
n.317G>T
c.503G>T (p.Trp168Leu)
5g.70946143G>ACA360097099SMN1c.801G>A (p.Trp267Ter)
c.705G>A (p.Trp235Ter)
n.55G>A
n.368G>A
c.600G>A (p.Trp200Ter)
n.318G>A
c.504G>A (p.Trp168Ter)
 ClinVar
5g.70946143G>CCA360097101SMN1c.801G>C (p.Trp267Cys)
c.705G>C (p.Trp235Cys)
n.55G>C
n.368G>C
c.600G>C (p.Trp200Cys)
n.318G>C
c.504G>C (p.Trp168Cys)
5g.70946143G>TCA360097106SMN1c.801G>T (p.Trp267Cys)
c.705G>T (p.Trp235Cys)
n.55G>T
n.368G>T
c.600G>T (p.Trp200Cys)
n.318G>T
c.504G>T (p.Trp168Cys)
 gnomAD v4
5g.70946144T>ACA360097109SMN1c.802T>A (p.Tyr268Asn)
c.706T>A (p.Tyr236Asn)
n.56T>A
n.369T>A
c.601T>A (p.Tyr201Asn)
n.319T>A
c.505T>A (p.Tyr169Asn)
5g.70946144T>CCA360097112SMN1c.802T>C (p.Tyr268His)
c.706T>C (p.Tyr236His)
n.56T>C
n.369T>C
c.601T>C (p.Tyr201His)
n.319T>C
c.505T>C (p.Tyr169His)
5g.70946144T>GCA360097115SMN1c.802T>G (p.Tyr268Asp)
c.706T>G (p.Tyr236Asp)
n.56T>G
n.369T>G
c.601T>G (p.Tyr201Asp)
n.319T>G
c.505T>G (p.Tyr169Asp)
5g.70946145A=CA1554172355SMN1c.803A= (p.Tyr268=)
c.707A= (p.Tyr236=)
n.57A=
n.370A=
c.602A= (p.Tyr201=)
n.320A=
c.506A= (p.Tyr169=)
5g.70946145A>CCA360097118SMN1c.803A>C (p.Tyr268Ser)
c.707A>C (p.Tyr236Ser)
n.57A>C
n.370A>C
c.602A>C (p.Tyr201Ser)
n.320A>C
c.506A>C (p.Tyr169Ser)
5g.70946145A>GCA360097121SMN1c.803A>G (p.Tyr268Cys)
c.707A>G (p.Tyr236Cys)
n.57A>G
n.370A>G
c.602A>G (p.Tyr201Cys)
n.320A>G
c.506A>G (p.Tyr169Cys)
 ClinVar dbSNP
5g.70946145A>TCA360097124SMN1c.803A>T (p.Tyr268Phe)
c.707A>T (p.Tyr236Phe)
n.57A>T
n.370A>T
c.602A>T (p.Tyr201Phe)
n.320A>T
c.506A>T (p.Tyr169Phe)
5g.70946146C>ACA360097129SMN1c.804C>A (p.Tyr268Ter)
c.708C>A (p.Tyr236Ter)
n.58C>A
n.371C>A
c.603C>A (p.Tyr201Ter)
n.321C>A
c.507C>A (p.Tyr169Ter)
5g.70946146C>GCA360097132SMN1c.804C>G (p.Tyr268Ter)
c.708C>G (p.Tyr236Ter)
n.58C>G
n.371C>G
c.603C>G (p.Tyr201Ter)
n.321C>G
c.507C>G (p.Tyr169Ter)
5g.70946146C>TCA444973064SMN1c.804C>T (p.Tyr268=)
c.708C>T (p.Tyr236=)
n.58C>T
n.371C>T
c.603C>T (p.Tyr201=)
n.321C>T
c.507C>T (p.Tyr169=)
5g.70946147A>CCA360097143SMN1c.805A>C (p.Met269Leu)
c.709A>C (p.Met237Leu)
n.59A>C
n.372A>C
c.604A>C (p.Met202Leu)
n.322A>C
c.508A>C (p.Met170Leu)
5g.70946147A>GCA360097140SMN1c.805A>G (p.Met269Val)
c.709A>G (p.Met237Val)
n.59A>G
n.372A>G
c.604A>G (p.Met202Val)
n.322A>G
c.508A>G (p.Met170Val)
5g.70946147A>TCA360097137SMN1c.805A>T (p.Met269Leu)
c.709A>T (p.Met237Leu)
n.59A>T
n.372A>T
c.604A>T (p.Met202Leu)
n.322A>T
c.508A>T (p.Met170Leu)
5g.70946148T>ACA360097148SMN1c.806T>A (p.Met269Lys)
c.710T>A (p.Met237Lys)
n.60T>A
n.373T>A
c.605T>A (p.Met202Lys)
n.323T>A
c.509T>A (p.Met170Lys)
5g.70946148T>CCA360097150SMN1c.806T>C (p.Met269Thr)
c.710T>C (p.Met237Thr)
n.60T>C
n.373T>C
c.605T>C (p.Met202Thr)
n.323T>C
c.509T>C (p.Met170Thr)
5g.70946148T>GCA360097152SMN1c.806T>G (p.Met269Arg)
c.710T>G (p.Met237Arg)
n.60T>G
n.373T>G
c.605T>G (p.Met202Arg)
n.323T>G
c.509T>G (p.Met170Arg)
5g.70946149G>ACA360097155SMN1c.807G>A (p.Met269Ile)
c.711G>A (p.Met237Ile)
n.61G>A
n.374G>A
c.606G>A (p.Met202Ile)
n.324G>A
c.510G>A (p.Met170Ile)
5g.70946149G>CCA360097158SMN1c.807G>C (p.Met269Ile)
c.711G>C (p.Met237Ile)
n.61G>C
n.374G>C
c.606G>C (p.Met202Ile)
n.324G>C
c.510G>C (p.Met170Ile)
5g.70946149G>TCA360097161SMN1c.807G>T (p.Met269Ile)
c.711G>T (p.Met237Ile)
n.61G>T
n.374G>T
c.606G>T (p.Met202Ile)
n.324G>T
c.510G>T (p.Met170Ile)
5g.70946150A>CCA360097167SMN1c.808A>C (p.Ser270Arg)
c.712A>C (p.Ser238Arg)
n.62A>C
n.375A>C
c.607A>C (p.Ser203Arg)
n.325A>C
c.511A>C (p.Ser171Arg)
5g.70946150A>GCA360097170SMN1c.808A>G (p.Ser270Gly)
c.712A>G (p.Ser238Gly)
n.62A>G
n.375A>G
c.607A>G (p.Ser203Gly)
n.325A>G
c.511A>G (p.Ser171Gly)
5g.70946150A>TCA360097173SMN1c.808A>T (p.Ser270Cys)
c.712A>T (p.Ser238Cys)
n.62A>T
n.375A>T
c.607A>T (p.Ser203Cys)
n.325A>T
c.511A>T (p.Ser171Cys)
5g.70946151G>ACA360097178SMN1c.809G>A (p.Ser270Asn)
c.713G>A (p.Ser238Asn)
n.63G>A
n.376G>A
c.608G>A (p.Ser203Asn)
n.326G>A
c.512G>A (p.Ser171Asn)
5g.70946151G>CCA360097182SMN1c.809G>C (p.Ser270Thr)
c.713G>C (p.Ser238Thr)
n.63G>C
n.376G>C
c.608G>C (p.Ser203Thr)
n.326G>C
c.512G>C (p.Ser171Thr)
5g.70946151G>TCA360097185SMN1c.809G>T (p.Ser270Ile)
c.713G>T (p.Ser238Ile)
n.63G>T
n.376G>T
c.608G>T (p.Ser203Ile)
n.326G>T
c.512G>T (p.Ser171Ile)
5g.70946152T>ACA360097189SMN1c.810T>A (p.Ser270Arg)
c.714T>A (p.Ser238Arg)
n.64T>A
n.377T>A
c.609T>A (p.Ser203Arg)
n.327T>A
c.513T>A (p.Ser171Arg)
5g.70946152T>CCA444973126SMN1c.810T>C (p.Ser270=)
c.714T>C (p.Ser238=)
n.64T>C
n.377T>C
c.609T>C (p.Ser203=)
n.327T>C
c.513T>C (p.Ser171=)
5g.70946152T>GCA360097190SMN1c.810T>G (p.Ser270Arg)
c.714T>G (p.Ser238Arg)
n.64T>G
n.377T>G
c.609T>G (p.Ser203Arg)
n.327T>G
c.513T>G (p.Ser171Arg)
5g.70946153_70946156dupCA2695204561SMN1c.811_814dup (p.Tyr272TrpfsTer?)
c.715_718dup (p.Tyr240TrpfsTer?)
c.811_814dup (p.Tyr272TrpfsTer17)
c.811_814dup (p.Tyr272TrpfsTer15)
n.65_68dup
n.378_381dup
c.610_613dup (p.Tyr205TrpfsTer?)
n.328_331dup
c.514_517dup (p.Tyr173TrpfsTer?)
c.715_718dup (p.Tyr240TrpfsTer17)
5g.70946153G>ACA360097195SMN1c.811G>A (p.Gly271Ser)
c.715G>A (p.Gly239Ser)
n.65G>A
n.378G>A
c.610G>A (p.Gly204Ser)
n.328G>A
c.514G>A (p.Gly172Ser)
5g.70946153G>CCA360097201SMN1c.811G>C (p.Gly271Arg)
c.715G>C (p.Gly239Arg)
n.65G>C
n.378G>C
c.610G>C (p.Gly204Arg)
n.328G>C
c.514G>C (p.Gly172Arg)
5g.70946153G>TCA360097197SMN1c.811G>T (p.Gly271Cys)
c.715G>T (p.Gly239Cys)
n.65G>T
n.378G>T
c.610G>T (p.Gly204Cys)
n.328G>T
c.514G>T (p.Gly172Cys)
5g.70946154G>ACA360097206SMN1c.812G>A (p.Gly271Asp)
c.716G>A (p.Gly239Asp)
n.66G>A
n.379G>A
c.611G>A (p.Gly204Asp)
n.329G>A
c.515G>A (p.Gly172Asp)
5g.70946154G>CCA360097208SMN1c.812G>C (p.Gly271Ala)
c.716G>C (p.Gly239Ala)
n.66G>C
n.379G>C
c.611G>C (p.Gly204Ala)
n.329G>C
c.515G>C (p.Gly172Ala)
5g.70946154G>TCA360097212SMN1c.812G>T (p.Gly271Val)
c.716G>T (p.Gly239Val)
n.66G>T
n.379G>T
c.611G>T (p.Gly204Val)
n.329G>T
c.515G>T (p.Gly172Val)
5g.70946155C>ACA444973153SMN1c.813C>A (p.Gly271=)
c.717C>A (p.Gly239=)
n.67C>A
n.380C>A
c.612C>A (p.Gly204=)
n.330C>A
c.516C>A (p.Gly172=)
5g.70946155C>GCA444973144SMN1c.813C>G (p.Gly271=)
c.717C>G (p.Gly239=)
n.67C>G
n.380C>G
c.612C>G (p.Gly204=)
n.330C>G
c.516C>G (p.Gly172=)
5g.70946155C>TCA444973147SMN1c.813C>T (p.Gly271=)
c.717C>T (p.Gly239=)
n.67C>T
n.380C>T
c.612C>T (p.Gly204=)
n.330C>T
c.516C>T (p.Gly172=)
5g.70946156T>ACA360097215SMN1c.814T>A (p.Tyr272Asn)
c.718T>A (p.Tyr240Asn)
n.68T>A
n.381T>A
c.613T>A (p.Tyr205Asn)
n.331T>A
c.517T>A (p.Tyr173Asn)
5g.70946156T>CCA360097218SMN1c.814T>C (p.Tyr272His)
c.718T>C (p.Tyr240His)
n.68T>C
n.381T>C
c.613T>C (p.Tyr205His)
n.331T>C
c.517T>C (p.Tyr173His)
5g.70946156T>GCA360097220SMN1c.814T>G (p.Tyr272Asp)
c.718T>G (p.Tyr240Asp)
n.68T>G
n.381T>G
c.613T>G (p.Tyr205Asp)
n.331T>G
c.517T>G (p.Tyr173Asp)
5g.70946157A=CA1554172356SMN1c.815A= (p.Tyr272=)
c.719A= (p.Tyr240=)
n.69A=
n.382A=
c.614A= (p.Tyr205=)
n.332A=
c.518A= (p.Tyr173=)
5g.70946157A>CCA360097225SMN1c.815A>C (p.Tyr272Ser)
c.719A>C (p.Tyr240Ser)
n.69A>C
n.382A>C
c.614A>C (p.Tyr205Ser)
n.332A>C
c.518A>C (p.Tyr173Ser)
5g.70946157A>GCA254677SMN1c.815A>G (p.Tyr272Cys)
c.719A>G (p.Tyr240Cys)
n.69A>G
n.382A>G
c.614A>G (p.Tyr205Cys)
n.332A>G
c.518A>G (p.Tyr173Cys)
 ClinVar dbSNP gnomAD v4
5g.70946157A>TCA360097233SMN1c.815A>T (p.Tyr272Phe)
c.719A>T (p.Tyr240Phe)
n.69A>T
n.382A>T
c.614A>T (p.Tyr205Phe)
n.332A>T
c.518A>T (p.Tyr173Phe)
5g.70946158T>ACA360097237SMN1c.816T>A (p.Tyr272Ter)
c.720T>A (p.Tyr240Ter)
n.70T>A
n.383T>A
c.615T>A (p.Tyr205Ter)
n.333T>A
c.519T>A (p.Tyr173Ter)
5g.70946158T>CCA444973189SMN1c.816T>C (p.Tyr272=)
c.720T>C (p.Tyr240=)
n.70T>C
n.383T>C
c.615T>C (p.Tyr205=)
n.333T>C
c.519T>C (p.Tyr173=)
5g.70946158T>GCA360097240SMN1c.816T>G (p.Tyr272Ter)
c.720T>G (p.Tyr240Ter)
n.70T>G
n.383T>G
c.615T>G (p.Tyr205Ter)
n.333T>G
c.519T>G (p.Tyr173Ter)
5g.70946159C>ACA360097250SMN1c.817C>A (p.His273Asn)
c.721C>A (p.His241Asn)
n.71C>A
n.384C>A
c.616C>A (p.His206Asn)
n.334C>A
c.520C>A (p.His174Asn)
5g.70946159C>GCA360097245SMN1c.817C>G (p.His273Asp)
c.721C>G (p.His241Asp)
n.71C>G
n.384C>G
c.616C>G (p.His206Asp)
n.334C>G
c.520C>G (p.His174Asp)
5g.70946159C>TCA360097247SMN1c.817C>T (p.His273Tyr)
c.721C>T (p.His241Tyr)
n.71C>T
n.384C>T
c.616C>T (p.His206Tyr)
n.334C>T
c.520C>T (p.His174Tyr)
5g.70946160A=CA1554172357SMN1c.818A= (p.His273=)
c.722A= (p.His241=)
n.72A=
n.385A=
c.617A= (p.His206=)
n.335A=
c.521A= (p.His174=)
5g.70946160A>CCA360097255SMN1c.818A>C (p.His273Pro)
c.722A>C (p.His241Pro)
n.72A>C
n.385A>C
c.617A>C (p.His206Pro)
n.335A>C
c.521A>C (p.His174Pro)
5g.70946160A>GCA360097258SMN1c.818A>G (p.His273Arg)
c.722A>G (p.His241Arg)
n.72A>G
n.385A>G
c.617A>G (p.His206Arg)
n.335A>G
c.521A>G (p.His174Arg)
5g.70946160A>TCA360097259SMN1c.818A>T (p.His273Leu)
c.722A>T (p.His241Leu)
n.72A>T
n.385A>T
c.617A>T (p.His206Leu)
n.335A>T
c.521A>T (p.His174Leu)
 ClinVar dbSNP
5g.70946161T>ACA360097264SMN1c.819T>A (p.His273Gln)
c.723T>A (p.His241Gln)
n.73T>A
n.386T>A
c.618T>A (p.His206Gln)
n.336T>A
c.522T>A (p.His174Gln)
5g.70946161T>CCA444973216SMN1c.819T>C (p.His273=)
c.723T>C (p.His241=)
n.73T>C
n.386T>C
c.618T>C (p.His206=)
n.336T>C
c.522T>C (p.His174=)
5g.70946161T>GCA360097266SMN1c.819T>G (p.His273Gln)
c.723T>G (p.His241Gln)
n.73T>G
n.386T>G
c.618T>G (p.His206Gln)
n.336T>G
c.522T>G (p.His174Gln)
5g.70946161dupCA2695204562SMN1c.819dup (p.Thr274TyrfsTer?)
c.723dup (p.Thr242TyrfsTer?)
c.819dup (p.Thr274TyrfsTer14)
c.819dup (p.Thr274TyrfsTer12)
n.73dup
n.386dup
c.618dup (p.Thr207TyrfsTer?)
n.336dup
c.522dup (p.Thr175TyrfsTer?)
c.723dup (p.Thr242TyrfsTer14)
5g.70946162A>CCA360097271SMN1c.820A>C (p.Thr274Pro)
c.724A>C (p.Thr242Pro)
n.74A>C
n.387A>C
c.619A>C (p.Thr207Pro)
n.337A>C
c.523A>C (p.Thr175Pro)
5g.70946162A>GCA360097273SMN1c.820A>G (p.Thr274Ala)
c.724A>G (p.Thr242Ala)
n.74A>G
n.387A>G
c.619A>G (p.Thr207Ala)
n.337A>G
c.523A>G (p.Thr175Ala)
5g.70946162A>TCA360097275SMN1c.820A>T (p.Thr274Ser)
c.724A>T (p.Thr242Ser)
n.74A>T
n.387A>T
c.619A>T (p.Thr207Ser)
n.337A>T
c.523A>T (p.Thr175Ser)
5g.70946163C>ACA360097279SMN1c.821C>A (p.Thr274Asn)
c.725C>A (p.Thr242Asn)
n.75C>A
n.388C>A
c.620C>A (p.Thr207Asn)
n.338C>A
c.524C>A (p.Thr175Asn)
5g.70946163C=CA1554172358SMN1c.821C= (p.Thr274=)
c.725C= (p.Thr242=)
n.75C=
n.388C=
c.620C= (p.Thr207=)
n.338C=
c.524C= (p.Thr175=)
5g.70946163C>GCA360097282SMN1c.821C>G (p.Thr274Ser)
c.725C>G (p.Thr242Ser)
n.75C>G
n.388C>G
c.620C>G (p.Thr207Ser)
n.338C>G
c.524C>G (p.Thr175Ser)
5g.70946163C>TCA254673SMN1c.821C>T (p.Thr274Ile)
c.725C>T (p.Thr242Ile)
n.75C>T
n.388C>T
c.620C>T (p.Thr207Ile)
n.338C>T
c.524C>T (p.Thr175Ile)
 ClinVar dbSNP
5g.70946164T>ACA444973245SMN1c.822T>A (p.Thr274=)
c.726T>A (p.Thr242=)
n.76T>A
n.389T>A
c.621T>A (p.Thr207=)
n.339T>A
c.525T>A (p.Thr175=)
5g.70946164T>CCA444973250SMN1c.822T>C (p.Thr274=)
c.726T>C (p.Thr242=)
n.76T>C
n.389T>C
c.621T>C (p.Thr207=)
n.339T>C
c.525T>C (p.Thr175=)
5g.70946164T>GCA444973266SMN1c.822T>G (p.Thr274=)
c.726T>G (p.Thr242=)
n.76T>G
n.389T>G
c.621T>G (p.Thr207=)
n.339T>G
c.525T>G (p.Thr175=)
5g.70946165G>ACA120725213SMN1c.823G>A (p.Gly275Ser)
c.727G>A (p.Gly243Ser)
n.77G>A
n.390G>A
c.622G>A (p.Gly208Ser)
n.340G>A
c.526G>A (p.Gly176Ser)
 ClinVar dbSNP
5g.70946165G>CCA360097293SMN1c.823G>C (p.Gly275Arg)
c.727G>C (p.Gly243Arg)
n.77G>C
n.390G>C
c.622G>C (p.Gly208Arg)
n.340G>C
c.526G>C (p.Gly176Arg)
5g.70946165G=CA1554172359SMN1c.823G= (p.Gly275=)
c.727G= (p.Gly243=)
n.77G=
n.390G=
c.622G= (p.Gly208=)
n.340G=
c.526G= (p.Gly176=)
5g.70946165G>TCA360097288SMN1c.823G>T (p.Gly275Cys)
c.727G>T (p.Gly243Cys)
n.77G>T
n.390G>T
c.622G>T (p.Gly208Cys)
n.340G>T
c.526G>T (p.Gly176Cys)
5g.70946166G>ACA360097300SMN1c.824G>A (p.Gly275Asp)
c.728G>A (p.Gly243Asp)
n.78G>A
n.391G>A
c.623G>A (p.Gly208Asp)
n.341G>A
c.527G>A (p.Gly176Asp)
 ClinVar dbSNP
5g.70946166G>CCA360097303SMN1c.824G>C (p.Gly275Ala)
c.728G>C (p.Gly243Ala)
n.78G>C
n.391G>C
c.623G>C (p.Gly208Ala)
n.341G>C
c.527G>C (p.Gly176Ala)
5g.70946166G=CA1554172360SMN1c.824G= (p.Gly275=)
c.728G= (p.Gly243=)
n.78G=
n.391G=
c.623G= (p.Gly208=)
n.341G=
c.527G= (p.Gly176=)
5g.70946166G>TCA360097305SMN1c.824G>T (p.Gly275Val)
c.728G>T (p.Gly243Val)
n.78G>T
n.391G>T
c.623G>T (p.Gly208Val)
n.341G>T
c.527G>T (p.Gly176Val)
5g.70946167C>ACA444973291SMN1c.825C>A (p.Gly275=)
c.729C>A (p.Gly243=)
n.79C>A
n.392C>A
c.624C>A (p.Gly208=)
n.342C>A
c.528C>A (p.Gly176=)
5g.70946167C>GCA444973294SMN1c.825C>G (p.Gly275=)
c.729C>G (p.Gly243=)
n.79C>G
n.392C>G
c.624C>G (p.Gly208=)
n.342C>G
c.528C>G (p.Gly176=)
5g.70946167C>TCA444973307SMN1c.825C>T (p.Gly275=)
c.729C>T (p.Gly243=)
n.79C>T
n.392C>T
c.624C>T (p.Gly208=)
n.342C>T
c.528C>T (p.Gly176=)
5g.70946168T>ACA360097309SMN1c.826T>A (p.Tyr276Asn)
c.730T>A (p.Tyr244Asn)
n.80T>A
n.393T>A
c.625T>A (p.Tyr209Asn)
n.343T>A
c.529T>A (p.Tyr177Asn)
5g.70946168T>CCA360097312SMN1c.826T>C (p.Tyr276His)
c.730T>C (p.Tyr244His)
n.80T>C
n.393T>C
c.625T>C (p.Tyr209His)
n.343T>C
c.529T>C (p.Tyr177His)
5g.70946168T>GCA360097315SMN1c.826T>G (p.Tyr276Asp)
c.730T>G (p.Tyr244Asp)
n.80T>G
n.393T>G
c.625T>G (p.Tyr209Asp)
n.343T>G
c.529T>G (p.Tyr177Asp)

Number of alleles fetched