Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.70946055T>G | CA2674135111 | SMN1 | c.724-11T>G (n.724-11T>G) c.628-11T>G (n.628-11T>G) c.418-11T>G (n.418-11T>G) n.291-11T>G c.523-11T>G (n.523-11T>G) n.241-11T>G c.427-11T>G (n.427-11T>G) | gnomAD v4 |
5 | g.70946058G>T | CA2674135112 | SMN1 | c.724-8G>T (n.724-8G>T) c.628-8G>T (n.628-8G>T) c.418-8G>T (n.418-8G>T) n.291-8G>T c.523-8G>T (n.523-8G>T) n.241-8G>T c.427-8G>T (n.427-8G>T) | gnomAD v4 |
5 | g.70946059_70946061del | CA2766929486 | SMN1 | c.724-7_724-5del (n.724-7_724-5del) c.628-7_628-5del (n.628-7_628-5del) c.418-7_418-5del (n.418-7_418-5del) n.291-7_291-5del c.523-7_523-5del (n.523-7_523-5del) n.241-7_241-5del c.427-7_427-5del (n.427-7_427-5del) | |
5 | g.70946061T>C | CA2837582378 | SMN1 | c.724-5T>C (n.724-5T>C) c.628-5T>C (n.628-5T>C) c.418-5T>C (n.418-5T>C) n.291-5T>C c.523-5T>C (n.523-5T>C) n.241-5T>C c.427-5T>C (n.427-5T>C) | |
5 | g.70946064A= | CA1554172346 | SMN1 | c.724-2A= (n.724-2A=) c.628-2A= (n.628-2A=) c.418-2A= (n.418-2A=) n.291-2A= c.523-2A= (n.523-2A=) n.241-2A= c.427-2A= (n.427-2A=) | |
5 | g.70946064A>C | CA360096484 | SMN1 | c.724-2A>C (n.724-2A>C) c.628-2A>C (n.628-2A>C) c.418-2A>C (n.418-2A>C) n.291-2A>C c.523-2A>C (n.523-2A>C) n.241-2A>C c.427-2A>C (n.427-2A>C) | |
5 | g.70946064A>G | CA360096481 | SMN1 | c.724-2A>G (n.724-2A>G) c.628-2A>G (n.628-2A>G) c.418-2A>G (n.418-2A>G) n.291-2A>G c.523-2A>G (n.523-2A>G) n.241-2A>G c.427-2A>G (n.427-2A>G) | ClinVar dbSNP |
5 | g.70946064A>T | CA360096479 | SMN1 | c.724-2A>T (n.724-2A>T) c.628-2A>T (n.628-2A>T) c.418-2A>T (n.418-2A>T) n.291-2A>T c.523-2A>T (n.523-2A>T) n.241-2A>T c.427-2A>T (n.427-2A>T) | |
5 | g.70946064_70946175delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT | CA1554172347 | SMN1 | c.724-2_833delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT c.628-2_737delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT n.291-2_400delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT c.523-2_632delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT n.241-2_350delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT c.427-2_536delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT | |
5 | g.70946065G>A | CA360096487 | SMN1 | c.724-1G>A (n.724-1G>A) c.628-1G>A (n.628-1G>A) c.418-1G>A (n.418-1G>A) n.291-1G>A c.523-1G>A (n.523-1G>A) n.241-1G>A c.427-1G>A (n.427-1G>A) | |
5 | g.70946065G>C | CA360096489 | SMN1 | c.724-1G>C (n.724-1G>C) c.628-1G>C (n.628-1G>C) c.418-1G>C (n.418-1G>C) n.291-1G>C c.523-1G>C (n.523-1G>C) n.241-1G>C c.427-1G>C (n.427-1G>C) | gnomAD v4 |
5 | g.70946065G>T | CA360096491 | SMN1 | c.724-1G>T (n.724-1G>T) c.628-1G>T (n.628-1G>T) c.418-1G>T (n.418-1G>T) n.291-1G>T c.523-1G>T (n.523-1G>T) n.241-1G>T c.427-1G>T (n.427-1G>T) | |
5 | g.70946066_70946176del | CA645372410 | SMN1 | c.724_834del c.628_738del n.291_401del c.523_633del n.241_351del c.427_537del | ClinVar dbSNP |
5 | g.70946066A>C | CA360096494 | SMN1 | c.724A>C (p.Ile242Leu) c.628A>C (p.Ile210Leu) c.418A>C (n.418A>C) n.291A>C c.523A>C (p.Ile175Leu) n.241A>C c.427A>C (p.Ile143Leu) | |
5 | g.70946066A>G | CA360096496 | SMN1 | c.724A>G (p.Ile242Val) c.628A>G (p.Ile210Val) c.418A>G (n.418A>G) n.291A>G c.523A>G (p.Ile175Val) n.241A>G c.427A>G (p.Ile143Val) | |
5 | g.70946066A>T | CA360096498 | SMN1 | c.724A>T (p.Ile242Leu) c.628A>T (p.Ile210Leu) c.418A>T (n.418A>T) n.291A>T c.523A>T (p.Ile175Leu) n.241A>T c.427A>T (p.Ile143Leu) | |
5 | g.70946066_70951991del | CA1139658875 | SMN1 | c.724_885del c.628_789del c.724_835-448del c.724_*59-448del c.523_684del c.427_588del c.628_739-448del | ClinVar |
5 | g.70946067T>A | CA360096500 | SMN1 | c.725T>A (p.Ile242Lys) c.629T>A (p.Ile210Lys) c.419T>A (n.419T>A) n.292T>A c.524T>A (p.Ile175Lys) n.242T>A c.428T>A (p.Ile143Lys) | |
5 | g.70946067T>C | CA360096504 | SMN1 | c.725T>C (p.Ile242Thr) c.629T>C (p.Ile210Thr) c.419T>C (n.419T>C) n.292T>C c.524T>C (p.Ile175Thr) n.242T>C c.428T>C (p.Ile143Thr) | |
5 | g.70946067T>G | CA360096505 | SMN1 | c.725T>G (p.Ile242Arg) c.629T>G (p.Ile210Arg) c.419T>G (n.419T>G) n.292T>G c.524T>G (p.Ile175Arg) n.242T>G c.428T>G (p.Ile143Arg) | |
5 | g.70946068A>C | CA444972070 | SMN1 | c.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 |
5 | g.70946068A>G | CA360096506 | SMN1 | c.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) | |
5 | g.70946068A>T | CA444972078 | SMN1 | c.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=) | |
5 | g.70946069A>C | CA360096509 | SMN1 | c.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) | |
5 | g.70946069A>G | CA360096510 | SMN1 | c.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) | |
5 | g.70946069A>T | CA360096512 | SMN1 | c.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) | |
5 | g.70946070T>A | CA360096518 | SMN1 | c.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) | |
5 | g.70946070T>C | CA360096520 | SMN1 | c.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) | |
5 | g.70946070T>G | CA360096515 | SMN1 | c.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) | |
5 | g.70946071T>A | CA444972106 | SMN1 | c.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=) | |
5 | g.70946071T>C | CA444972122 | SMN1 | c.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=) | |
5 | g.70946071T>G | CA360096525 | SMN1 | c.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) | |
5 | g.70946072C>A | CA360096536 | SMN1 | c.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) | |
5 | g.70946072C>G | CA360096529 | SMN1 | c.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) | |
5 | g.70946072C>T | CA360096532 | SMN1 | c.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) | |
5 | g.70946076dup | CA2695204557 | SMN1 | c.734dup (p.Pro246ThrfsTer10) c.638dup (p.Pro214ThrfsTer10) c.428dup (n.428dup) n.301dup c.533dup (p.Pro179ThrfsTer10) n.251dup c.437dup (p.Pro147ThrfsTer10) | |
5 | g.70946073C>A | CA360096548 | SMN1 | c.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) | |
5 | g.70946073C>G | CA360096550 | SMN1 | c.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) | |
5 | g.70946073C>T | CA360096554 | SMN1 | c.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) | |
5 | g.70946074C>A | CA444972155 | SMN1 | c.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=) | |
5 | g.70946074C>G | CA444972158 | SMN1 | c.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=) | |
5 | g.70946074C>T | CA444972161 | SMN1 | c.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=) | |
5 | g.70946075C>A | CA360096565 | SMN1 | c.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 |
5 | g.70946075C>G | CA360096563 | SMN1 | c.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) | |
5 | g.70946075C>T | CA360096560 | SMN1 | c.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) | |
5 | g.70946076C>A | CA360096574 | SMN1 | c.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) | |
5 | g.70946076C>G | CA360096576 | SMN1 | c.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) | |
5 | g.70946076C>T | CA360096578 | SMN1 | c.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) | |
5 | g.70946077A>C | CA444972189 | SMN1 | c.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=) | |
5 | g.70946077A>G | CA444972190 | SMN1 | c.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=) | |
5 | g.70946077A>T | CA444972194 | SMN1 | c.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=) | |
5 | g.70946077dup | CA2695204558 | SMN1 | c.735dup (p.Pro246ThrfsTer10) c.639dup (p.Pro214ThrfsTer10) c.429dup (n.429dup) n.302dup c.534dup (p.Pro179ThrfsTer10) n.252dup c.438dup (p.Pro147ThrfsTer10) | |
5 | g.70946078C>A | CA360096583 | SMN1 | c.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) | |
5 | g.70946078C>G | CA360096585 | SMN1 | c.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) | |
5 | g.70946078C>T | CA360096588 | SMN1 | c.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) | |
5 | g.70946079C>A | CA360096609 | SMN1 | c.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) | |
5 | g.70946079C>G | CA360096593 | SMN1 | c.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) | |
5 | g.70946079C>T | CA360096597 | SMN1 | c.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) | |
5 | g.70946080A>C | CA444972238 | SMN1 | c.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 |
5 | g.70946080A>G | CA444972241 | SMN1 | c.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=) | |
5 | g.70946080A>T | CA444972245 | SMN1 | c.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 |
5 | g.70946081C>A | CA360096615 | SMN1 | c.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) | |
5 | g.70946081C>G | CA360096617 | SMN1 | c.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) | |
5 | g.70946081C>T | CA360096620 | SMN1 | c.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) | |
5 | g.70946082dup | CA2695204559 | SMN1 | c.740dup (p.Pro248SerfsTer8) c.644dup (p.Pro216SerfsTer8) n.307dup c.539dup (p.Pro181SerfsTer8) n.257dup c.443dup (p.Pro149SerfsTer8) | |
5 | g.70946082C>A | CA360096624 | SMN1 | c.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) | |
5 | g.70946082C>G | CA360096627 | SMN1 | c.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) | |
5 | g.70946082C>T | CA360096631 | SMN1 | c.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) | |
5 | g.70946083T>A | CA444972298 | SMN1 | c.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=) | |
5 | g.70946083T>C | CA444972302 | SMN1 | c.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=) | |
5 | g.70946083T>G | CA444972305 | SMN1 | c.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=) | |
5 | g.70946084C>A | CA360096634 | SMN1 | c.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) | |
5 | g.70946084C>G | CA360096636 | SMN1 | c.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) | |
5 | g.70946084C>T | CA360096639 | SMN1 | c.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) | |
5 | g.70946086del | CA2695204560 | SMN1 | c.744del (p.Ile249TyrfsTer16) c.648del (p.Ile217TyrfsTer16) n.311del c.543del (p.Ile182TyrfsTer16) n.261del c.447del (p.Ile150TyrfsTer16) | |
5 | g.70946085C>A | CA360096642 | SMN1 | c.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) | |
5 | g.70946085C>G | CA360096643 | SMN1 | c.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) | |
5 | g.70946085C>T | CA360096644 | SMN1 | c.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) | |
5 | g.70946086C>A | CA444972331 | SMN1 | c.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=) | |
5 | g.70946086C>G | CA444972338 | SMN1 | c.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=) | |
5 | g.70946086C>T | CA444972333 | SMN1 | c.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=) | |
5 | g.70946087A= | CA1554172348 | SMN1 | c.745A= (p.Ile249=) c.649A= (p.Ile217=) n.312A= c.544A= (p.Ile182=) n.262A= c.448A= (p.Ile150=) | |
5 | g.70946087A>C | CA360096647 | SMN1 | c.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) | |
5 | g.70946087A>G | CA360096653 | SMN1 | c.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 |
5 | g.70946087A>T | CA360096650 | SMN1 | c.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) | |
5 | g.70946088T>A | CA360096656 | SMN1 | c.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) | |
5 | g.70946088T>C | CA360096659 | SMN1 | c.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) | |
5 | g.70946088T>G | CA360096663 | SMN1 | c.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) | |
5 | g.70946089A>C | CA444972354 | SMN1 | c.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=) | |
5 | g.70946089A>G | CA360096666 | SMN1 | c.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) | |
5 | g.70946089A>T | CA444972361 | SMN1 | c.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=) | |
5 | g.70946090T>A | CA360096671 | SMN1 | c.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) | |
5 | g.70946090T>C | CA360096674 | SMN1 | c.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) | |
5 | g.70946090T>G | CA360096676 | SMN1 | c.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) | |
5 | g.70946091G>A | CA360096681 | SMN1 | c.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) | |
5 | g.70946091G>C | CA360096684 | SMN1 | c.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) | |
5 | g.70946091G>T | CA360096688 | SMN1 | c.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) | |
5 | g.70946092T>A | CA360096691 | SMN1 | c.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) | |
5 | g.70946092T>C | CA444972393 | SMN1 | c.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=) | |
5 | g.70946092T>G | CA360096693 | SMN1 | c.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) | |
5 | g.70946093C>A | CA360096706 | SMN1 | c.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) | |
5 | g.70946093C>G | CA360096701 | SMN1 | c.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) | |
5 | g.70946093C>T | CA360096703 | SMN1 | c.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) | |
5 | g.70946094C>A | CA360096711 | SMN1 | c.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) | |
5 | g.70946094C>G | CA360096714 | SMN1 | c.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) | |
5 | g.70946094C>T | CA360096717 | SMN1 | c.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) | |
5 | g.70946095A>C | CA444972418 | SMN1 | c.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=) | |
5 | g.70946095A>G | CA444972421 | SMN1 | c.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=) | |
5 | g.70946095A>T | CA444972424 | SMN1 | c.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=) | |
5 | g.70946096G>A | CA360096721 | SMN1 | c.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) | |
5 | g.70946096G>C | CA360096726 | SMN1 | c.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) | |
5 | g.70946096G>T | CA360096729 | SMN1 | c.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) | |
5 | g.70946097A>C | CA360096735 | SMN1 | c.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) | |
5 | g.70946097A>G | CA360096737 | SMN1 | c.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) | |
5 | g.70946097A>T | CA360096740 | SMN1 | c.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) | |
5 | g.70946098T>A | CA360096744 | SMN1 | c.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) | |
5 | g.70946098T>C | CA444972459 | SMN1 | c.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=) | |
5 | g.70946098T>G | CA360096747 | SMN1 | c.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) | |
5 | g.70946099T>A | CA360096754 | SMN1 | c.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) | |
5 | g.70946099T>C | CA360096757 | SMN1 | c.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) | |
5 | g.70946099T>G | CA360096751 | SMN1 | c.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) | |
5 | g.70946100C>A | CA360096768 | SMN1 | c.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) | |
5 | g.70946100C>G | CA360096762 | SMN1 | c.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) | |
5 | g.70946100C>T | CA360096765 | SMN1 | c.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) | |
5 | g.70946101T>A | CA444972500 | SMN1 | c.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=) | |
5 | g.70946101T>C | CA444972496 | SMN1 | c.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=) | |
5 | g.70946101T>G | CA444972489 | SMN1 | c.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=) | |
5 | g.70946102C>A | CA360096772 | SMN1 | c.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) | |
5 | g.70946102C>G | CA360096775 | SMN1 | c.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) | |
5 | g.70946102C>T | CA360096778 | SMN1 | c.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) | |
5 | g.70946103T>A | CA360096782 | SMN1 | c.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) | |
5 | g.70946103T>C | CA360096784 | SMN1 | c.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) | |
5 | g.70946103T>G | CA360096788 | SMN1 | c.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) | |
5 | g.70946104T>A | CA444972537 | SMN1 | c.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=) | |
5 | g.70946104T>C | CA444972544 | SMN1 | c.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=) | |
5 | g.70946104T>G | CA444972539 | SMN1 | c.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=) | |
5 | g.70946105G>A | CA360096794 | SMN1 | c.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) | |
5 | g.70946105G>C | CA360096796 | SMN1 | c.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) | |
5 | g.70946105G>T | CA360096800 | SMN1 | c.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) | |
5 | g.70946106A>C | CA360096809 | SMN1 | c.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) | |
5 | g.70946106A>G | CA360096807 | SMN1 | c.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) | |
5 | g.70946106A>T | CA360096805 | SMN1 | c.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) | |
5 | g.70946107T>A | CA360096812 | SMN1 | c.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) | |
5 | g.70946107T>C | CA444972569 | SMN1 | c.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 |
5 | g.70946107T>G | CA360096815 | SMN1 | c.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) | |
5 | g.70946107T= | CA1554172349 | SMN1 | c.765T= (p.Asp255=) c.669T= (p.Asp223=) n.19T= n.332T= c.564T= (p.Asp188=) n.282T= c.468T= (p.Asp156=) | |
5 | g.70946108G>A | CA360096821 | SMN1 | c.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) | |
5 | g.70946108G>C | CA360096824 | SMN1 | c.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) | |
5 | g.70946108G>T | CA360096827 | SMN1 | c.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) | |
5 | g.70946109A= | CA1554172350 | SMN1 | c.767A= (p.Asp256=) c.671A= (p.Asp224=) n.21A= n.334A= c.566A= (p.Asp189=) n.284A= c.470A= (p.Asp157=) | |
5 | g.70946109A>C | CA360096831 | SMN1 | c.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) | |
5 | g.70946109A>G | CA360096833 | SMN1 | c.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) | |
5 | g.70946109A>T | CA360096835 | SMN1 | c.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) | |
5 | g.70946110T>A | CA360096838 | SMN1 | c.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) | |
5 | g.70946110T>C | CA444972612 | SMN1 | c.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=) | |
5 | g.70946110T>G | CA360096840 | SMN1 | c.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) | |
5 | g.70946112_70946122dup | CA891843195 | SMN1 | c.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 |
5 | g.70946111G>A | CA120725212 | SMN1 | c.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 |
5 | g.70946111G>C | CA360096848 | SMN1 | c.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) | |
5 | g.70946111G= | CA1554172351 | SMN1 | c.769G= (p.Ala257=) c.673G= (p.Ala225=) n.23G= n.336G= c.568G= (p.Ala190=) n.286G= c.472G= (p.Ala158=) | |
5 | g.70946111G>T | CA360096851 | SMN1 | c.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) | |
5 | g.70946112C>A | CA360096858 | SMN1 | c.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) | |
5 | g.70946112C>G | CA360096861 | SMN1 | c.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) | |
5 | g.70946112C>T | CA360096855 | SMN1 | c.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) | |
5 | g.70946113T>A | CA444972677 | SMN1 | c.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=) | |
5 | g.70946113T>C | CA444972681 | SMN1 | c.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=) | |
5 | g.70946113T>G | CA444972682 | SMN1 | c.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=) | |
5 | g.70946114G>A | CA360096866 | SMN1 | c.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) | |
5 | g.70946114G>C | CA360096868 | SMN1 | c.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) | |
5 | g.70946114G>T | CA360096872 | SMN1 | c.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) | |
5 | g.70946115A>C | CA360096878 | SMN1 | c.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) | |
5 | g.70946115A>G | CA360096880 | SMN1 | c.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) | |
5 | g.70946115A>T | CA360096883 | SMN1 | c.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) | |
5 | g.70946116T>A | CA360096887 | SMN1 | c.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) | |
5 | g.70946116T>C | CA444972704 | SMN1 | c.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=) | |
5 | g.70946116T>G | CA360096890 | SMN1 | c.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) | |
5 | g.70946117G>A | CA360096895 | SMN1 | c.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) | |
5 | g.70946117G>C | CA360096897 | SMN1 | c.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) | |
5 | g.70946117G>T | CA360096899 | SMN1 | c.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) | |
5 | g.70946118C>A | CA360096903 | SMN1 | c.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 |
5 | g.70946118C>G | CA360096907 | SMN1 | c.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) | |
5 | g.70946118C>T | CA360096909 | SMN1 | c.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) | |
5 | g.70946119T>A | CA444972751 | SMN1 | c.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=) | |
5 | g.70946119T>C | CA444972764 | SMN1 | c.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=) | |
5 | g.70946119T>G | CA444972759 | SMN1 | c.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=) | |
5 | g.70946120T>A | CA360096916 | SMN1 | c.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) | |
5 | g.70946120T>C | CA444972767 | SMN1 | c.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=) | |
5 | g.70946120T>G | CA360096914 | SMN1 | c.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) | |
5 | g.70946121T>A | CA360096918 | SMN1 | c.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) | |
5 | g.70946121T>C | CA360096920 | SMN1 | c.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) | |
5 | g.70946121T>G | CA360096923 | SMN1 | c.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) | |
5 | g.70946122G>A | CA444972783 | SMN1 | c.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=) | |
5 | g.70946122G>C | CA360096926 | SMN1 | c.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) | |
5 | g.70946122G>T | CA360096930 | SMN1 | c.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 |
5 | g.70946123G>A | CA360096939 | SMN1 | c.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) | |
5 | g.70946123G>C | CA360096936 | SMN1 | c.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) | |
5 | g.70946123G>T | CA360096934 | SMN1 | c.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 |
5 | g.70946124G>A | CA360096943 | SMN1 | c.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) | |
5 | g.70946124G>C | CA360096945 | SMN1 | c.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) | |
5 | g.70946124G>T | CA360096948 | SMN1 | c.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 |
5 | g.70946125A>C | CA444972817 | SMN1 | c.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=) | |
5 | g.70946125A>G | CA444972819 | SMN1 | c.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=) | |
5 | g.70946125A>T | CA444972818 | SMN1 | c.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 |
5 | g.70946126A= | CA1554172352 | SMN1 | c.784A= (p.Ser262=) c.688A= (p.Ser230=) n.38A= n.351A= c.583A= (p.Ser195=) n.301A= c.487A= (p.Ser163=) | |
5 | g.70946126A>C | CA360096952 | SMN1 | c.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) | |
5 | g.70946126A>G | CA254694 | SMN1 | c.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 |
5 | g.70946126A>T | CA360096954 | SMN1 | c.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) | |
5 | g.70946127G>A | CA360096956 | SMN1 | c.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) | |
5 | g.70946127G>C | CA360096960 | SMN1 | c.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) | |
5 | g.70946127G= | CA1554172353 | SMN1 | c.785G= (p.Ser262=) c.689G= (p.Ser230=) n.39G= n.352G= c.584G= (p.Ser195=) n.302G= c.488G= (p.Ser163=) | |
5 | g.70946127G>T | CA254675 | SMN1 | c.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 |
5 | g.70946128T>A | CA360096964 | SMN1 | c.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) | |
5 | g.70946128T>C | CA444972852 | SMN1 | c.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=) | |
5 | g.70946128T>G | CA360096967 | SMN1 | c.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) | |
5 | g.70946129A>C | CA360096971 | SMN1 | c.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) | |
5 | g.70946129A>G | CA360096977 | SMN1 | c.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) | |
5 | g.70946129A>T | CA360096974 | SMN1 | c.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 |
5 | g.70946130T>A | CA360096982 | SMN1 | c.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) | |
5 | g.70946130T>C | CA360096984 | SMN1 | c.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) | |
5 | g.70946130T>G | CA360096988 | SMN1 | c.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) | |
5 | g.70946131G>A | CA360096994 | SMN1 | c.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) | |
5 | g.70946131G>C | CA360096995 | SMN1 | c.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) | |
5 | g.70946131G>T | CA360096996 | SMN1 | c.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) | |
5 | g.70946132T>A | CA360096999 | SMN1 | c.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) | |
5 | g.70946132T>C | CA444972912 | SMN1 | c.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=) | |
5 | g.70946132T>G | CA360097002 | SMN1 | c.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) | |
5 | g.70946133T>A | CA360097007 | SMN1 | c.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) | |
5 | g.70946133T>C | CA360097009 | SMN1 | c.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) | |
5 | g.70946133T>G | CA360097010 | SMN1 | c.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) | |
5 | g.70946134A>C | CA360097012 | SMN1 | c.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 |
5 | g.70946134A>G | CA444972926 | SMN1 | c.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=) | |
5 | g.70946134A>T | CA360097014 | SMN1 | c.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) | |
5 | g.70946135A>C | CA360097024 | SMN1 | c.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) | |
5 | g.70946135A>G | CA360097021 | SMN1 | c.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) | |
5 | g.70946135A>T | CA360097018 | SMN1 | c.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) | |
5 | g.70946136T>A | CA360097029 | SMN1 | c.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) | |
5 | g.70946136T>C | CA360097037 | SMN1 | c.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) | |
5 | g.70946136T>G | CA360097041 | SMN1 | c.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) | |
5 | g.70946137T>A | CA444972963 | SMN1 | c.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=) | |
5 | g.70946137T>C | CA444972972 | SMN1 | c.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=) | |
5 | g.70946137T>G | CA360097046 | SMN1 | c.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) | |
5 | g.70946138T>A | CA360097049 | SMN1 | c.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) | |
5 | g.70946138T>C | CA360097052 | SMN1 | c.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 |
5 | g.70946138T>G | CA360097055 | SMN1 | c.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) | |
5 | g.70946138T= | CA1554172354 | SMN1 | c.796T= (p.Ser266=) c.700T= (p.Ser234=) n.50T= n.363T= c.595T= (p.Ser199=) n.313T= c.499T= (p.Ser167=) | |
5 | g.70946139C>A | CA360097059 | SMN1 | c.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) | |
5 | g.70946139C>G | CA360097069 | SMN1 | c.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) | |
5 | g.70946139C>T | CA360097072 | SMN1 | c.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) | |
5 | g.70946140A>C | CA444972992 | SMN1 | c.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=) | |
5 | g.70946140A>G | CA444973003 | SMN1 | c.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 |
5 | g.70946140A>T | CA444972997 | SMN1 | c.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=) | |
5 | g.70946141T>A | CA360097077 | SMN1 | c.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) | |
5 | g.70946141T>C | CA360097082 | SMN1 | c.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) | |
5 | g.70946141T>G | CA360097085 | SMN1 | c.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) | |
5 | g.70946142G>A | CA360097092 | SMN1 | c.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) | |
5 | g.70946142G>C | CA360097095 | SMN1 | c.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) | |
5 | g.70946142G>T | CA360097088 | SMN1 | c.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) | |
5 | g.70946143G>A | CA360097099 | SMN1 | c.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 |
5 | g.70946143G>C | CA360097101 | SMN1 | c.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) | |
5 | g.70946143G>T | CA360097106 | SMN1 | c.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 |
5 | g.70946144T>A | CA360097109 | SMN1 | c.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) | |
5 | g.70946144T>C | CA360097112 | SMN1 | c.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) | |
5 | g.70946144T>G | CA360097115 | SMN1 | c.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) | |
5 | g.70946145A= | CA1554172355 | SMN1 | c.803A= (p.Tyr268=) c.707A= (p.Tyr236=) n.57A= n.370A= c.602A= (p.Tyr201=) n.320A= c.506A= (p.Tyr169=) | |
5 | g.70946145A>C | CA360097118 | SMN1 | c.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) | |
5 | g.70946145A>G | CA360097121 | SMN1 | c.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 |
5 | g.70946145A>T | CA360097124 | SMN1 | c.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) | |
5 | g.70946146C>A | CA360097129 | SMN1 | c.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) | |
5 | g.70946146C>G | CA360097132 | SMN1 | c.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) | |
5 | g.70946146C>T | CA444973064 | SMN1 | c.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=) | |
5 | g.70946147A>C | CA360097143 | SMN1 | c.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) | |
5 | g.70946147A>G | CA360097140 | SMN1 | c.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) | |
5 | g.70946147A>T | CA360097137 | SMN1 | c.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) | |
5 | g.70946148T>A | CA360097148 | SMN1 | c.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) | |
5 | g.70946148T>C | CA360097150 | SMN1 | c.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) | |
5 | g.70946148T>G | CA360097152 | SMN1 | c.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) | |
5 | g.70946149G>A | CA360097155 | SMN1 | c.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) | |
5 | g.70946149G>C | CA360097158 | SMN1 | c.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) | |
5 | g.70946149G>T | CA360097161 | SMN1 | c.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) | |
5 | g.70946150A>C | CA360097167 | SMN1 | c.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) | |
5 | g.70946150A>G | CA360097170 | SMN1 | c.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) | |
5 | g.70946150A>T | CA360097173 | SMN1 | c.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) | |
5 | g.70946151G>A | CA360097178 | SMN1 | c.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) | |
5 | g.70946151G>C | CA360097182 | SMN1 | c.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) | |
5 | g.70946151G>T | CA360097185 | SMN1 | c.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) | |
5 | g.70946152T>A | CA360097189 | SMN1 | c.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) | |
5 | g.70946152T>C | CA444973126 | SMN1 | c.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=) | |
5 | g.70946152T>G | CA360097190 | SMN1 | c.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) | |
5 | g.70946153_70946156dup | CA2695204561 | SMN1 | c.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) | |
5 | g.70946153G>A | CA360097195 | SMN1 | c.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) | |
5 | g.70946153G>C | CA360097201 | SMN1 | c.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) | |
5 | g.70946153G>T | CA360097197 | SMN1 | c.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) | |
5 | g.70946154G>A | CA360097206 | SMN1 | c.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) | |
5 | g.70946154G>C | CA360097208 | SMN1 | c.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) | |
5 | g.70946154G>T | CA360097212 | SMN1 | c.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) |