| 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.70946165G>A | CA120725213 | SMN1 | c.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) | dbSNP |
| 5 | g.70946165G>C | CA360097293 | SMN1 | c.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) | |
| 5 | g.70946165G= | CA1554172359 | SMN1 | c.823G= (p.Gly275=) c.727G= (p.Gly243=) n.77G= n.390G= c.622G= (p.Gly208=) n.340G= c.526G= (p.Gly176=) | |
| 5 | g.70946165G>T | CA360097288 | SMN1 | c.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) | |
| 5 | g.70946166G>A | CA360097300 | SMN1 | c.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 |
| 5 | g.70946166G>C | CA360097303 | SMN1 | c.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) | |
| 5 | g.70946166G= | CA1554172360 | SMN1 | c.824G= (p.Gly275=) c.728G= (p.Gly243=) n.78G= n.391G= c.623G= (p.Gly208=) n.341G= c.527G= (p.Gly176=) | |
| 5 | g.70946166G>T | CA360097305 | SMN1 | c.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) | |
| 5 | g.70946167C>A | CA444973291 | SMN1 | c.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=) | |
| 5 | g.70946167C>G | CA444973294 | SMN1 | c.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=) | |
| 5 | g.70946167C>T | CA444973307 | SMN1 | c.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=) | |
| 5 | g.70946168T>A | CA360097309 | SMN1 | c.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) | |
| 5 | g.70946168T>C | CA360097312 | SMN1 | c.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) | |
| 5 | g.70946168T>G | CA360097315 | SMN1 | c.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) | |
| 5 | g.70946169A>C | CA360097326 | SMN1 | c.827A>C (p.Tyr276Ser) c.731A>C (p.Tyr244Ser) n.81A>C n.394A>C c.626A>C (p.Tyr209Ser) n.344A>C c.530A>C (p.Tyr177Ser) | |
| 5 | g.70946169A>G | CA360097322 | SMN1 | c.827A>G (p.Tyr276Cys) c.731A>G (p.Tyr244Cys) n.81A>G n.394A>G c.626A>G (p.Tyr209Cys) n.344A>G c.530A>G (p.Tyr177Cys) | |
| 5 | g.70946169A>T | CA360097325 | SMN1 | c.827A>T (p.Tyr276Phe) c.731A>T (p.Tyr244Phe) n.81A>T n.394A>T c.626A>T (p.Tyr209Phe) n.344A>T c.530A>T (p.Tyr177Phe) | |
| 5 | g.70946170T>A | CA360097331 | SMN1 | c.828T>A (p.Tyr276Ter) c.732T>A (p.Tyr244Ter) n.82T>A n.395T>A c.627T>A (p.Tyr209Ter) n.345T>A c.531T>A (p.Tyr177Ter) | |
| 5 | g.70946170T>C | CA444973314 | SMN1 | c.828T>C (p.Tyr276=) c.732T>C (p.Tyr244=) n.82T>C n.395T>C c.627T>C (p.Tyr209=) n.345T>C c.531T>C (p.Tyr177=) | |
| 5 | g.70946170T>G | CA360097332 | SMN1 | c.828T>G (p.Tyr276Ter) c.732T>G (p.Tyr244Ter) n.82T>G n.395T>G c.627T>G (p.Tyr209Ter) n.345T>G c.531T>G (p.Tyr177Ter) | |
| 5 | g.70946171T>A | CA360097341 | SMN1 | c.829T>A (p.Tyr277Asn) c.733T>A (p.Tyr245Asn) n.83T>A n.396T>A c.628T>A (p.Tyr210Asn) n.346T>A c.532T>A (p.Tyr178Asn) | |
| 5 | g.70946171T>C | CA360097344 | SMN1 | c.829T>C (p.Tyr277His) c.733T>C (p.Tyr245His) n.83T>C n.396T>C c.628T>C (p.Tyr210His) n.346T>C c.532T>C (p.Tyr178His) | |
| 5 | g.70946171T>G | CA360097347 | SMN1 | c.829T>G (p.Tyr277Asp) c.733T>G (p.Tyr245Asp) n.83T>G n.396T>G c.628T>G (p.Tyr210Asp) n.346T>G c.532T>G (p.Tyr178Asp) | |
| 5 | g.70946172A>C | CA360097352 | SMN1 | c.830A>C (p.Tyr277Ser) c.734A>C (p.Tyr245Ser) n.84A>C n.397A>C c.629A>C (p.Tyr210Ser) n.347A>C c.533A>C (p.Tyr178Ser) | |
| 5 | g.70946172A>G | CA360097358 | SMN1 | c.830A>G (p.Tyr277Cys) c.734A>G (p.Tyr245Cys) n.84A>G n.397A>G c.629A>G (p.Tyr210Cys) n.347A>G c.533A>G (p.Tyr178Cys) | |
| 5 | g.70946172A>T | CA360097355 | SMN1 | c.830A>T (p.Tyr277Phe) c.734A>T (p.Tyr245Phe) n.84A>T n.397A>T c.629A>T (p.Tyr210Phe) n.347A>T c.533A>T (p.Tyr178Phe) | |
| 5 | g.70946173T>A | CA360097362 | SMN1 | c.831T>A (p.Tyr277Ter) c.735T>A (p.Tyr245Ter) n.85T>A n.398T>A c.630T>A (p.Tyr210Ter) n.348T>A c.534T>A (p.Tyr178Ter) | |
| 5 | g.70946173T>C | CA444973354 | SMN1 | c.831T>C (p.Tyr277=) c.735T>C (p.Tyr245=) n.85T>C n.398T>C c.630T>C (p.Tyr210=) n.348T>C c.534T>C (p.Tyr178=) | |
| 5 | g.70946173T>G | CA360097365 | SMN1 | c.831T>G (p.Tyr277Ter) c.735T>G (p.Tyr245Ter) n.85T>G n.398T>G c.630T>G (p.Tyr210Ter) n.348T>G c.534T>G (p.Tyr178Ter) | |
| 5 | g.70946174A>C | CA360097368 | SMN1 | c.832A>C (p.Met278Leu) c.736A>C (p.Met246Leu) n.86A>C n.399A>C c.631A>C (p.Met211Leu) n.349A>C c.535A>C (p.Met179Leu) | |
| 5 | g.70946174A>G | CA360097371 | SMN1 | c.832A>G (p.Met278Val) c.736A>G (p.Met246Val) n.86A>G n.399A>G c.631A>G (p.Met211Val) n.349A>G c.535A>G (p.Met179Val) | |
| 5 | g.70946174A>T | CA360097374 | SMN1 | c.832A>T (p.Met278Leu) c.736A>T (p.Met246Leu) n.86A>T n.399A>T c.631A>T (p.Met211Leu) n.349A>T c.535A>T (p.Met179Leu) | |
| 5 | g.70946175T>A | CA360097377 | SMN1 | c.833T>A (p.Met278Lys) c.737T>A (p.Met246Lys) n.87T>A n.400T>A c.632T>A (p.Met211Lys) n.350T>A c.536T>A (p.Met179Lys) | |
| 5 | g.70946175T>C | CA360097378 | SMN1 | c.833T>C (p.Met278Thr) c.737T>C (p.Met246Thr) n.87T>C n.400T>C c.632T>C (p.Met211Thr) n.350T>C c.536T>C (p.Met179Thr) | |
| 5 | g.70946175T>G | CA360097379 | SMN1 | c.833T>G (p.Met278Arg) c.737T>G (p.Met246Arg) n.87T>G n.400T>G c.632T>G (p.Met211Arg) n.350T>G c.536T>G (p.Met179Arg) | |
| 5 | g.70946176G>A | CA360097381 | SMN1 | c.834G>A (p.Met278Ile) c.738G>A (p.Met246Ile) n.88G>A n.401G>A c.633G>A (p.Met211Ile) n.351G>A c.537G>A (p.Met179Ile) | |
| 5 | g.70946176G>C | CA360097384 | SMN1 | c.834G>C (p.Met278Ile) c.738G>C (p.Met246Ile) n.88G>C n.401G>C c.633G>C (p.Met211Ile) n.351G>C c.537G>C (p.Met179Ile) | |
| 5 | g.70946176G>T | CA360097387 | SMN1 | c.834G>T (p.Met278Ile) c.738G>T (p.Met246Ile) n.88G>T n.401G>T c.633G>T (p.Met211Ile) n.351G>T c.537G>T (p.Met179Ile) | |
| 5 | g.70946177G>A | CA360097396 | SMN1 | c.834+1G>A (n.834+1G>A) c.738+1G>A (n.738+1G>A) n.88+1G>A n.402G>A c.633+1G>A (n.633+1G>A) n.352G>A c.537+1G>A (n.537+1G>A) | |
| 5 | g.70946177G>C | CA360097395 | SMN1 | c.834+1G>C (n.834+1G>C) c.738+1G>C (n.738+1G>C) n.88+1G>C n.402G>C c.633+1G>C (n.633+1G>C) n.352G>C c.537+1G>C (n.537+1G>C) | |
| 5 | g.70946177G>T | CA360097392 | SMN1 | c.834+1G>T (n.834+1G>T) c.738+1G>T (n.738+1G>T) n.88+1G>T n.402G>T c.633+1G>T (n.633+1G>T) n.352G>T c.537+1G>T (n.537+1G>T) | |
| 5 | g.70946178T>A | CA360097397 | SMN1 | c.834+2T>A (n.834+2T>A) c.738+2T>A (n.738+2T>A) n.88+2T>A n.403T>A c.633+2T>A (n.633+2T>A) n.353T>A c.537+2T>A (n.537+2T>A) | |
| 5 | g.70946178T>C | CA360097401 | SMN1 | c.834+2T>C (n.834+2T>C) c.738+2T>C (n.738+2T>C) n.88+2T>C n.403T>C c.633+2T>C (n.633+2T>C) n.353T>C c.537+2T>C (n.537+2T>C) | |
| 5 | g.70946178T>G | CA360097399 | SMN1 | c.834+2T>G (n.834+2T>G) c.738+2T>G (n.738+2T>G) n.88+2T>G n.403T>G c.633+2T>G (n.633+2T>G) n.353T>G c.537+2T>G (n.537+2T>G) | |
| 5 | g.70946182T>G | CA2573052525 | SMN1 | c.834+6T>G (n.834+6T>G) c.738+6T>G (n.738+6T>G) n.88+6T>G n.407T>G c.633+6T>G (n.633+6T>G) n.357T>G c.537+6T>G (n.537+6T>G) | ClinVar dbSNP |
| 5 | g.70946187A>G | CA2674135113 | SMN1 | c.834+11A>G (n.834+11A>G) c.738+11A>G (n.738+11A>G) n.88+11A>G n.412A>G c.633+11A>G (n.633+11A>G) n.362A>G c.537+11A>G (n.537+11A>G) | gnomAD v4 |
| 5 | g.70946206C>A | CA120725214 | SMN1 | c.834+30C>A (n.834+30C>A) c.738+30C>A (n.738+30C>A) n.88+30C>A n.431C>A c.633+30C>A (n.633+30C>A) n.381C>A c.537+30C>A (n.537+30C>A) | dbSNP |