| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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) |