| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.70951919_70952011delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT | CA1554174100 | SMN1 | c.835-22_*3+17delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT c.739-22_*20delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT c.835-520_835-428delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT (n.835-520_835-428delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT) c.*59-520_*59-428delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT (n.*59-520_*59-428delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT) n.89-22_142+17delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT c.634-22_*20delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT c.739-22_*3+17delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT c.634-22_*3+17delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT c.538-22_*3+17delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT c.739-520_739-428delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT (n.739-520_739-428delinsACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT) | |
| 5 | g.70951920_70952011del | CA891843196 | SMN1 | c.835-21_*3+17del c.739-21_*20del c.835-519_835-428del (n.835-519_835-428del) c.*59-519_*59-428del (n.*59-519_*59-428del) n.89-21_142+17del c.634-21_*20del c.739-21_*3+17del c.634-21_*3+17del c.538-21_*3+17del c.739-519_739-428del (n.739-519_739-428del) | ClinVar dbSNP |
| 5 | g.70951942G>A | CA360098107 | SMN1 | c.836G>A (p.Gly279Asp) c.740G>A (p.Gly247Asp) c.835-497G>A (n.835-497G>A) c.*59-497G>A (n.*59-497G>A) n.90G>A c.635G>A (p.Gly212Asp) c.539G>A (p.Gly180Asp) c.739-497G>A (n.739-497G>A) | ClinVar dbSNP |
| 5 | g.70951942G>C | CA360098108 | SMN1 | c.836G>C (p.Gly279Ala) c.740G>C (p.Gly247Ala) c.835-497G>C (n.835-497G>C) c.*59-497G>C (n.*59-497G>C) n.90G>C c.635G>C (p.Gly212Ala) c.539G>C (p.Gly180Ala) c.739-497G>C (n.739-497G>C) | |
| 5 | g.70951942G= | CA1554174115 | SMN1 | c.836G= (p.Gly279=) c.740G= (p.Gly247=) c.835-497G= (n.835-497G=) c.*59-497G= (n.*59-497G=) n.90G= c.635G= (p.Gly212=) c.539G= (p.Gly180=) c.739-497G= (n.739-497G=) | |
| 5 | g.70951942G>T | CA254679 | SMN1 | c.836G>T (p.Gly279Val) c.740G>T (p.Gly247Val) c.835-497G>T (n.835-497G>T) c.*59-497G>T (n.*59-497G>T) n.90G>T c.635G>T (p.Gly212Val) c.539G>T (p.Gly180Val) c.739-497G>T (n.739-497G>T) | ClinVar dbSNP |
| 5 | g.70951943T>A | CA444975670 | SMN1 | c.837T>A (p.Gly279=) c.741T>A (p.Gly247=) c.835-496T>A (n.835-496T>A) c.*59-496T>A (n.*59-496T>A) n.91T>A c.636T>A (p.Gly212=) c.540T>A (p.Gly180=) c.739-496T>A (n.739-496T>A) | |
| 5 | g.70951943T>C | CA444975672 | SMN1 | c.837T>C (p.Gly279=) c.741T>C (p.Gly247=) c.835-496T>C (n.835-496T>C) c.*59-496T>C (n.*59-496T>C) n.91T>C c.636T>C (p.Gly212=) c.540T>C (p.Gly180=) c.739-496T>C (n.739-496T>C) | ClinVar dbSNP gnomAD v4 |
| 5 | g.70951943T>G | CA444975675 | SMN1 | c.837T>G (p.Gly279=) c.741T>G (p.Gly247=) c.835-496T>G (n.835-496T>G) c.*59-496T>G (n.*59-496T>G) n.91T>G c.636T>G (p.Gly212=) c.540T>G (p.Gly180=) c.739-496T>G (n.739-496T>G) | |
| 5 | g.70951943T= | CA1554174116 | SMN1 | c.837T= (p.Gly279=) c.741T= (p.Gly247=) c.835-496T= (n.835-496T=) c.*59-496T= (n.*59-496T=) n.91T= c.636T= (p.Gly212=) c.540T= (p.Gly180=) c.739-496T= (n.739-496T=) | |
| 5 | g.70951945dup | CA2674135244 | SMN1 | c.839dup (p.Arg281GlnfsTer25) c.839dup (p.Arg281GlnfsTer?) c.743dup (p.Arg249GlnfsTer?) c.835-494dup (n.835-494dup) c.*59-494dup (n.*59-494dup) n.93dup c.638dup (p.Arg214GlnfsTer?) c.743dup (p.Arg249GlnfsTer25) c.638dup (p.Arg214GlnfsTer25) c.542dup (p.Arg182GlnfsTer25) c.739-494dup (n.739-494dup) | gnomAD v4 |
| 5 | g.70951944T>A | CA360098115 | SMN1 | c.838T>A (p.Phe280Ile) c.742T>A (p.Phe248Ile) c.835-495T>A (n.835-495T>A) c.*59-495T>A (n.*59-495T>A) n.92T>A c.637T>A (p.Phe213Ile) c.541T>A (p.Phe181Ile) c.739-495T>A (n.739-495T>A) | |
| 5 | g.70951944T>C | CA360098122 | SMN1 | c.838T>C (p.Phe280Leu) c.742T>C (p.Phe248Leu) c.835-495T>C (n.835-495T>C) c.*59-495T>C (n.*59-495T>C) n.92T>C c.637T>C (p.Phe213Leu) c.541T>C (p.Phe181Leu) c.739-495T>C (n.739-495T>C) | |
| 5 | g.70951944T>G | CA360098119 | SMN1 | c.838T>G (p.Phe280Val) c.742T>G (p.Phe248Val) c.835-495T>G (n.835-495T>G) c.*59-495T>G (n.*59-495T>G) n.92T>G c.637T>G (p.Phe213Val) c.541T>G (p.Phe181Val) c.739-495T>G (n.739-495T>G) | |
| 5 | g.70951945T>A | CA360098126 | SMN1 | c.839T>A (p.Phe280Tyr) c.743T>A (p.Phe248Tyr) c.835-494T>A (n.835-494T>A) c.*59-494T>A (n.*59-494T>A) n.93T>A c.638T>A (p.Phe213Tyr) c.542T>A (p.Phe181Tyr) c.739-494T>A (n.739-494T>A) | |
| 5 | g.70951945T>C | CA360098130 | SMN1 | c.839T>C (p.Phe280Ser) c.743T>C (p.Phe248Ser) c.835-494T>C (n.835-494T>C) c.*59-494T>C (n.*59-494T>C) n.93T>C c.638T>C (p.Phe213Ser) c.542T>C (p.Phe181Ser) c.739-494T>C (n.739-494T>C) | |
| 5 | g.70951945T>G | CA360098133 | SMN1 | c.839T>G (p.Phe280Cys) c.743T>G (p.Phe248Cys) c.835-494T>G (n.835-494T>G) c.*59-494T>G (n.*59-494T>G) n.93T>G c.638T>G (p.Phe213Cys) c.542T>G (p.Phe181Cys) c.739-494T>G (n.739-494T>G) | dbSNP |
| 5 | g.70951945T= | CA1554174117 | SMN1 | c.839T= (p.Phe280=) c.743T= (p.Phe248=) c.835-494T= (n.835-494T=) c.*59-494T= (n.*59-494T=) n.93T= c.638T= (p.Phe213=) c.542T= (p.Phe181=) c.739-494T= (n.739-494T=) | |
| 5 | g.70951946C>A | CA360098137 | SMN1 | c.840C>A (p.Phe280Leu) c.744C>A (p.Phe248Leu) c.835-493C>A (n.835-493C>A) c.*59-493C>A (n.*59-493C>A) n.94C>A c.639C>A (p.Phe213Leu) c.543C>A (p.Phe181Leu) c.739-493C>A (n.739-493C>A) | |
| 5 | g.70951946C= | CA1554174118 | SMN1 | c.840C= (p.Phe280=) c.744C= (p.Phe248=) c.835-493C= (n.835-493C=) c.*59-493C= (n.*59-493C=) n.94C= c.639C= (p.Phe213=) c.543C= (p.Phe181=) c.739-493C= (n.739-493C=) | |
| 5 | g.70951946C>G | CA360098141 | SMN1 | c.840C>G (p.Phe280Leu) c.744C>G (p.Phe248Leu) c.835-493C>G (n.835-493C>G) c.*59-493C>G (n.*59-493C>G) n.94C>G c.639C>G (p.Phe213Leu) c.543C>G (p.Phe181Leu) c.739-493C>G (n.739-493C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.70951946C>T | CA444975693 | SMN1 | c.840C>T (p.Phe280=) c.744C>T (p.Phe248=) c.835-493C>T (n.835-493C>T) c.*59-493C>T (n.*59-493C>T) n.94C>T c.639C>T (p.Phe213=) c.543C>T (p.Phe181=) c.739-493C>T (n.739-493C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.70951947A= | CA1554174119 | SMN1 | c.841A= (p.Arg281=) c.745A= (p.Arg249=) c.835-492A= (n.835-492A=) c.*59-492A= (n.*59-492A=) n.95A= c.640A= (p.Arg214=) c.544A= (p.Arg182=) c.739-492A= (n.739-492A=) | |
| 5 | g.70951947A>C | CA444975704 | SMN1 | c.841A>C (p.Arg281=) c.745A>C (p.Arg249=) c.835-492A>C (n.835-492A>C) c.*59-492A>C (n.*59-492A>C) n.95A>C c.640A>C (p.Arg214=) c.544A>C (p.Arg182=) c.739-492A>C (n.739-492A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.70951947A>G | CA360098145 | SMN1 | c.841A>G (p.Arg281Gly) c.745A>G (p.Arg249Gly) c.835-492A>G (n.835-492A>G) c.*59-492A>G (n.*59-492A>G) n.95A>G c.640A>G (p.Arg214Gly) c.544A>G (p.Arg182Gly) c.739-492A>G (n.739-492A>G) | ClinVar |
| 5 | g.70951947A>T | CA360098148 | SMN1 | c.841A>T (p.Arg281Ter) c.745A>T (p.Arg249Ter) c.835-492A>T (n.835-492A>T) c.*59-492A>T (n.*59-492A>T) n.95A>T c.640A>T (p.Arg214Ter) c.544A>T (p.Arg182Ter) c.739-492A>T (n.739-492A>T) | |
| 5 | g.70951948G>A | CA360098152 | SMN1 | c.842G>A (p.Arg281Lys) c.746G>A (p.Arg249Lys) c.835-491G>A (n.835-491G>A) c.*59-491G>A (n.*59-491G>A) n.96G>A c.641G>A (p.Arg214Lys) c.545G>A (p.Arg182Lys) c.739-491G>A (n.739-491G>A) | gnomAD v4 |
| 5 | g.70951948G>C | CA360098161 | SMN1 | c.842G>C (p.Arg281Thr) c.746G>C (p.Arg249Thr) c.835-491G>C (n.835-491G>C) c.*59-491G>C (n.*59-491G>C) n.96G>C c.641G>C (p.Arg214Thr) c.545G>C (p.Arg182Thr) c.739-491G>C (n.739-491G>C) | ClinVar dbSNP |
| 5 | g.70951948G= | CA1554174120 | SMN1 | c.842G= (p.Arg281=) c.746G= (p.Arg249=) c.835-491G= (n.835-491G=) c.*59-491G= (n.*59-491G=) n.96G= c.641G= (p.Arg214=) c.545G= (p.Arg182=) c.739-491G= (n.739-491G=) | |
| 5 | g.70951948G>T | CA360098164 | SMN1 | c.842G>T (p.Arg281Ile) c.746G>T (p.Arg249Ile) c.835-491G>T (n.835-491G>T) c.*59-491G>T (n.*59-491G>T) n.96G>T c.641G>T (p.Arg214Ile) c.545G>T (p.Arg182Ile) c.739-491G>T (n.739-491G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.70951949A>C | CA360098169 | SMN1 | c.843A>C (p.Arg281Ser) c.747A>C (p.Arg249Ser) c.835-490A>C (n.835-490A>C) c.*59-490A>C (n.*59-490A>C) n.97A>C c.642A>C (p.Arg214Ser) c.546A>C (p.Arg182Ser) c.739-490A>C (n.739-490A>C) | |
| 5 | g.70951949A>G | CA444975723 | SMN1 | c.843A>G (p.Arg281=) c.747A>G (p.Arg249=) c.835-490A>G (n.835-490A>G) c.*59-490A>G (n.*59-490A>G) n.97A>G c.642A>G (p.Arg214=) c.546A>G (p.Arg182=) c.739-490A>G (n.739-490A>G) | |
| 5 | g.70951949A>T | CA360098171 | SMN1 | c.843A>T (p.Arg281Ser) c.747A>T (p.Arg249Ser) c.835-490A>T (n.835-490A>T) c.*59-490A>T (n.*59-490A>T) n.97A>T c.642A>T (p.Arg214Ser) c.546A>T (p.Arg182Ser) c.739-490A>T (n.739-490A>T) | gnomAD v4 |
| 5 | g.70951950C>A | CA360098173 | SMN1 | c.844C>A (p.Gln282Lys) c.748C>A (p.Gln250Lys) c.835-489C>A (n.835-489C>A) c.*59-489C>A (n.*59-489C>A) n.98C>A c.643C>A (p.Gln215Lys) c.547C>A (p.Gln183Lys) c.739-489C>A (n.739-489C>A) | |
| 5 | g.70951950C= | CA1554174121 | SMN1 | c.844C= (p.Gln282=) c.748C= (p.Gln250=) c.835-489C= (n.835-489C=) c.*59-489C= (n.*59-489C=) n.98C= c.643C= (p.Gln215=) c.547C= (p.Gln183=) c.739-489C= (n.739-489C=) | |
| 5 | g.70951950C>G | CA360098175 | SMN1 | c.844C>G (p.Gln282Glu) c.748C>G (p.Gln250Glu) c.835-489C>G (n.835-489C>G) c.*59-489C>G (n.*59-489C>G) n.98C>G c.643C>G (p.Gln215Glu) c.547C>G (p.Gln183Glu) c.739-489C>G (n.739-489C>G) | |
| 5 | g.70951950C>T | CA360098177 | SMN1 | c.844C>T (p.Gln282Ter) c.748C>T (p.Gln250Ter) c.835-489C>T (n.835-489C>T) c.*59-489C>T (n.*59-489C>T) n.98C>T c.643C>T (p.Gln215Ter) c.547C>T (p.Gln183Ter) c.739-489C>T (n.739-489C>T) | |
| 5 | g.70951951A= | CA1554174123 | SMN1 | c.845A= (p.Gln282=) c.749A= (p.Gln250=) c.835-488A= (n.835-488A=) c.*59-488A= (n.*59-488A=) n.99A= c.644A= (p.Gln215=) c.548A= (p.Gln183=) c.739-488A= (n.739-488A=) | |
| 5 | g.70951951A>C | CA360098180 | SMN1 | c.845A>C (p.Gln282Pro) c.749A>C (p.Gln250Pro) c.835-488A>C (n.835-488A>C) c.*59-488A>C (n.*59-488A>C) n.99A>C c.644A>C (p.Gln215Pro) c.548A>C (p.Gln183Pro) c.739-488A>C (n.739-488A>C) | |
| 5 | g.70951951A>G | CA360098182 | SMN1 | c.845A>G (p.Gln282Arg) c.749A>G (p.Gln250Arg) c.835-488A>G (n.835-488A>G) c.*59-488A>G (n.*59-488A>G) n.99A>G c.644A>G (p.Gln215Arg) c.548A>G (p.Gln183Arg) c.739-488A>G (n.739-488A>G) | dbSNP |
| 5 | g.70951951A>T | CA360098185 | SMN1 | c.845A>T (p.Gln282Leu) c.749A>T (p.Gln250Leu) c.835-488A>T (n.835-488A>T) c.*59-488A>T (n.*59-488A>T) n.99A>T c.644A>T (p.Gln215Leu) c.548A>T (p.Gln183Leu) c.739-488A>T (n.739-488A>T) | |
| 5 | g.70951954dup | CA1554174122 | SMN1 | c.848dup (p.Asn283LysfsTer23) c.848dup (p.Asn283LysfsTer?) c.752dup (p.Asn251LysfsTer?) c.835-485dup (n.835-485dup) c.*59-485dup (n.*59-485dup) n.102dup c.647dup (p.Asn216LysfsTer?) c.752dup (p.Asn251LysfsTer23) c.647dup (p.Asn216LysfsTer23) c.551dup (p.Asn184LysfsTer23) c.739-485dup (n.739-485dup) | dbSNP |
| 5 | g.70951952A>C | CA360098188 | SMN1 | c.846A>C (p.Gln282His) c.750A>C (p.Gln250His) c.835-487A>C (n.835-487A>C) c.*59-487A>C (n.*59-487A>C) n.100A>C c.645A>C (p.Gln215His) c.549A>C (p.Gln183His) c.739-487A>C (n.739-487A>C) | |
| 5 | g.70951952A>G | CA444975749 | SMN1 | c.846A>G (p.Gln282=) c.750A>G (p.Gln250=) c.835-487A>G (n.835-487A>G) c.*59-487A>G (n.*59-487A>G) n.100A>G c.645A>G (p.Gln215=) c.549A>G (p.Gln183=) c.739-487A>G (n.739-487A>G) | |
| 5 | g.70951952A>T | CA360098189 | SMN1 | c.846A>T (p.Gln282His) c.750A>T (p.Gln250His) c.835-487A>T (n.835-487A>T) c.*59-487A>T (n.*59-487A>T) n.100A>T c.645A>T (p.Gln215His) c.549A>T (p.Gln183His) c.739-487A>T (n.739-487A>T) | |
| 5 | g.70951953A= | CA1554174124 | SMN1 | c.847A= (p.Asn283=) c.751A= (p.Asn251=) c.835-486A= (n.835-486A=) c.*59-486A= (n.*59-486A=) n.101A= c.646A= (p.Asn216=) c.550A= (p.Asn184=) c.739-486A= (n.739-486A=) | |
| 5 | g.70951953A>C | CA360098196 | SMN1 | c.847A>C (p.Asn283His) c.751A>C (p.Asn251His) c.835-486A>C (n.835-486A>C) c.*59-486A>C (n.*59-486A>C) n.101A>C c.646A>C (p.Asn216His) c.550A>C (p.Asn184His) c.739-486A>C (n.739-486A>C) | ClinVar dbSNP |
| 5 | g.70951953A>G | CA360098199 | SMN1 | c.847A>G (p.Asn283Asp) c.751A>G (p.Asn251Asp) c.835-486A>G (n.835-486A>G) c.*59-486A>G (n.*59-486A>G) n.101A>G c.646A>G (p.Asn216Asp) c.550A>G (p.Asn184Asp) c.739-486A>G (n.739-486A>G) | |
| 5 | g.70951953A>T | CA360098193 | SMN1 | c.847A>T (p.Asn283Tyr) c.751A>T (p.Asn251Tyr) c.835-486A>T (n.835-486A>T) c.*59-486A>T (n.*59-486A>T) n.101A>T c.646A>T (p.Asn216Tyr) c.550A>T (p.Asn184Tyr) c.739-486A>T (n.739-486A>T) |