| 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.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) |