| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38925453_38925454delinsCG | CA1358731583 | SCN11A | c.673_674delinsCG (p.Arg225=) c.717_718delinsCG (n.717_718delinsCG) c.92_93delinsCG (p.Pro31=) c.1048_1049delinsCG (p.Arg350=) c.400_401delinsCG (p.Arg134=) | |
| 3 | g.38925454G>A | CA145434 | SCN11A | c.673C>T (p.Arg225Cys) c.717C>T (n.717C>T) c.92C>T (p.Pro31Leu) c.1048C>T (p.Arg350Cys) c.400C>T (p.Arg134Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.38925454G>C | CA352173273 | SCN11A | c.673C>G (p.Arg225Gly) c.717C>G (n.717C>G) c.92C>G (p.Pro31Arg) c.1048C>G (p.Arg350Gly) c.400C>G (p.Arg134Gly) | |
| 3 | g.38925454G= | CA1358731585 | SCN11A | c.673C= (p.Arg225=) c.717C= (n.717C=) c.92C= (p.Pro31=) c.1048C= (p.Arg350=) c.400C= (p.Arg134=) | |
| 3 | g.38925454G>T | CA352173275 | SCN11A | c.673C>A (p.Arg225Ser) c.717C>A (n.717C>A) c.92C>A (p.Pro31Gln) c.1048C>A (p.Arg350Ser) c.400C>A (p.Arg134Ser) | |
| 3 | g.38925455del | CA891843097 | SCN11A | c.673del (p.Arg225ValfsTer6) c.717del (n.717del) c.92del (p.Pro31ArgfsTer19) c.1048del (p.Arg350ValfsTer6) c.400del (p.Arg134ValfsTer6) | ClinVar dbSNP |
| 3 | g.38925455G>A | CA433142263 | SCN11A | c.672C>T (p.Phe224=) c.716C>T (n.716C>T) c.91C>T (p.Pro31Ser) c.1047C>T (p.Phe349=) c.399C>T (p.Phe133=) | |
| 3 | g.38925455G>C | CA352173279 | SCN11A | c.672C>G (p.Phe224Leu) c.716C>G (n.716C>G) c.91C>G (p.Pro31Ala) c.1047C>G (p.Phe349Leu) c.399C>G (p.Phe133Leu) | |
| 3 | g.38925455G>T | CA352173281 | SCN11A | c.672C>A (p.Phe224Leu) c.716C>A (n.716C>A) c.91C>A (p.Pro31Thr) c.1047C>A (p.Phe349Leu) c.399C>A (p.Phe133Leu) | |
| 3 | g.38925456A= | CA1358731586 | SCN11A | c.671T= (p.Phe224=) c.715T= (n.715T=) c.90T= (p.Leu30=) c.1046T= (p.Phe349=) c.398T= (p.Phe133=) | |
| 3 | g.38925456A>C | CA352173285 | SCN11A | c.671T>G (p.Phe224Cys) c.715T>G (n.715T>G) c.90T>G (p.Leu30=) c.1046T>G (p.Phe349Cys) c.398T>G (p.Phe133Cys) | gnomAD v4 |
| 3 | g.38925456A>G | CA352173290 | SCN11A | c.671T>C (p.Phe224Ser) c.715T>C (n.715T>C) c.90T>C (p.Leu30=) c.1046T>C (p.Phe349Ser) c.398T>C (p.Phe133Ser) | dbSNP gnomAD v4 |
| 3 | g.38925456A>T | CA352173293 | SCN11A | c.671T>A (p.Phe224Tyr) c.715T>A (n.715T>A) c.90T>A (p.Leu30=) c.1046T>A (p.Phe349Tyr) c.398T>A (p.Phe133Tyr) | |
| 3 | g.38925457A>C | CA352173302 | SCN11A | c.670T>G (p.Phe224Val) c.714T>G (n.714T>G) c.89T>G (p.Leu30Arg) c.1045T>G (p.Phe349Val) c.397T>G (p.Phe133Val) | |
| 3 | g.38925457A>G | CA352173297 | SCN11A | c.670T>C (p.Phe224Leu) c.714T>C (n.714T>C) c.89T>C (p.Leu30Pro) c.1045T>C (p.Phe349Leu) c.397T>C (p.Phe133Leu) | |
| 3 | g.38925457A>T | CA352173299 | SCN11A | c.670T>A (p.Phe224Ile) c.714T>A (n.714T>A) c.89T>A (p.Leu30His) c.1045T>A (p.Phe349Ile) c.397T>A (p.Phe133Ile) | |
| 3 | g.38925458G>A | CA433142265 | SCN11A | c.669C>T (p.Thr223=) c.713C>T (n.713C>T) c.88C>T (p.Leu30Phe) c.1044C>T (p.Thr348=) c.396C>T (p.Thr132=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38925458G>C | CA433142266 | SCN11A | c.669C>G (p.Thr223=) c.713C>G (n.713C>G) c.88C>G (p.Leu30Val) c.1044C>G (p.Thr348=) c.396C>G (p.Thr132=) | |
| 3 | g.38925458G= | CA1358731587 | SCN11A | c.669C= (p.Thr223=) c.713C= (n.713C=) c.88C= (p.Leu30=) c.1044C= (p.Thr348=) c.396C= (p.Thr132=) | |
| 3 | g.38925458G>T | CA433142267 | SCN11A | c.669C>A (p.Thr223=) c.713C>A (n.713C>A) c.88C>A (p.Leu30Ile) c.1044C>A (p.Thr348=) c.396C>A (p.Thr132=) | |
| 3 | g.38925459G>A | CA352173305 | SCN11A | c.668C>T (p.Thr223Ile) c.712C>T (n.712C>T) c.87C>T (p.Tyr29=) c.1043C>T (p.Thr348Ile) c.395C>T (p.Thr132Ile) | dbSNP |
| 3 | g.38925459G>C | CA352173308 | SCN11A | c.668C>G (p.Thr223Ser) c.712C>G (n.712C>G) c.87C>G (p.Tyr29Ter) c.1043C>G (p.Thr348Ser) c.395C>G (p.Thr132Ser) | |
| 3 | g.38925459G>T | CA352173311 | SCN11A | c.668C>A (p.Thr223Asn) c.712C>A (n.712C>A) c.87C>A (p.Tyr29Ter) c.1043C>A (p.Thr348Asn) c.395C>A (p.Thr132Asn) | |
| 3 | g.38925460T>A | CA352173315 | SCN11A | c.667A>T (p.Thr223Ser) c.711A>T (n.711A>T) c.86A>T (p.Tyr29Phe) c.1042A>T (p.Thr348Ser) c.394A>T (p.Thr132Ser) | |
| 3 | g.38925460T>C | CA352173317 | SCN11A | c.667A>G (p.Thr223Ala) c.711A>G (n.711A>G) c.86A>G (p.Tyr29Cys) c.1042A>G (p.Thr348Ala) c.394A>G (p.Thr132Ala) | |
| 3 | g.38925460T>G | CA352173319 | SCN11A | c.667A>C (p.Thr223Pro) c.711A>C (n.711A>C) c.86A>C (p.Tyr29Ser) c.1042A>C (p.Thr348Pro) c.394A>C (p.Thr132Pro) | |
| 3 | g.38925461A>C | CA433142268 | SCN11A | c.666T>G (p.Arg222=) c.710T>G (n.710T>G) c.85T>G (p.Tyr29Asp) c.1041T>G (p.Arg347=) c.393T>G (p.Arg131=) | |
| 3 | g.38925461A>G | CA433142269 | SCN11A | c.666T>C (p.Arg222=) c.710T>C (n.710T>C) c.85T>C (p.Tyr29His) c.1041T>C (p.Arg347=) c.393T>C (p.Arg131=) | |
| 3 | g.38925461A>T | CA433142270 | SCN11A | c.666T>A (p.Arg222=) c.710T>A (n.710T>A) c.85T>A (p.Tyr29Asn) c.1041T>A (p.Arg347=) c.393T>A (p.Arg131=) | |
| 3 | g.38925462C>A | CA352173322 | SCN11A | c.665G>T (p.Arg222Leu) c.709G>T (n.709G>T) c.84G>T (p.Ala28=) c.1040G>T (p.Arg347Leu) c.392G>T (p.Arg131Leu) | |
| 3 | g.38925462C= | CA1358731588 | SCN11A | c.665G= (p.Arg222=) c.709G= (n.709G=) c.84G= (p.Ala28=) c.1040G= (p.Arg347=) c.392G= (p.Arg131=) | |
| 3 | g.38925462C>G | CA352173325 | SCN11A | c.665G>C (p.Arg222Pro) c.709G>C (n.709G>C) c.84G>C (p.Ala28=) c.1040G>C (p.Arg347Pro) c.392G>C (p.Arg131Pro) | COSMIC |
| 3 | g.38925462C>T | CA352173327 | SCN11A | c.665G>A (p.Arg222His) c.709G>A (n.709G>A) c.84G>A (p.Ala28=) c.1040G>A (p.Arg347His) c.392G>A (p.Arg131His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.38925463G>A | CA2322550 | SCN11A | c.664C>T (p.Arg222Cys) c.708C>T (n.708C>T) c.83C>T (p.Ala28Val) c.1039C>T (p.Arg347Cys) c.391C>T (p.Arg131Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38925463G>C | CA352173332 | SCN11A | c.664C>G (p.Arg222Gly) c.708C>G (n.708C>G) c.83C>G (p.Ala28Gly) c.1039C>G (p.Arg347Gly) c.391C>G (p.Arg131Gly) | |
| 3 | g.38925463G= | CA1358731589 | SCN11A | c.664C= (p.Arg222=) c.708C= (n.708C=) c.83C= (p.Ala28=) c.1039C= (p.Arg347=) c.391C= (p.Arg131=) | |
| 3 | g.38925463G>T | CA352173334 | SCN11A | c.664C>A (p.Arg222Ser) c.708C>A (n.708C>A) c.83C>A (p.Ala28Glu) c.1039C>A (p.Arg347Ser) c.391C>A (p.Arg131Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38925464C>A | CA433142271 | SCN11A | c.663G>T (p.Leu221=) c.707G>T (n.707G>T) c.82G>T (p.Ala28Ser) c.1038G>T (p.Leu346=) c.390G>T (p.Leu130=) | |
| 3 | g.38925464C>G | CA433142272 | SCN11A | c.663G>C (p.Leu221=) c.707G>C (n.707G>C) c.82G>C (p.Ala28Pro) c.1038G>C (p.Leu346=) c.390G>C (p.Leu130=) | |
| 3 | g.38925464C>T | CA433142273 | SCN11A | c.663G>A (p.Leu221=) c.707G>A (n.707G>A) c.82G>A (p.Ala28Thr) c.1038G>A (p.Leu346=) c.390G>A (p.Leu130=) | gnomAD v4 |
| 3 | g.38925464_38925465delinsCA | CA1358731590 | SCN11A | c.662_663delinsTG (p.Leu221=) c.706_707delinsTG (n.706_707delinsTG) c.81_82delinsTG (p.Pro27=) c.1037_1038delinsTG (p.Leu346=) c.389_390delinsTG (p.Leu130=) | |
| 3 | g.38925465del | CA542282192 | SCN11A | c.662del (p.Leu221ArgfsTer10) c.706del (n.706del) c.81del (p.Ala28ArgfsTer22) c.1037del (p.Leu346ArgfsTer10) c.389del (p.Leu130ArgfsTer10) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38925465A= | CA1358731591 | SCN11A | c.662T= (p.Leu221=) c.706T= (n.706T=) c.81T= (p.Pro27=) c.1037T= (p.Leu346=) c.389T= (p.Leu130=) | |
| 3 | g.38925465A>C | CA352173338 | SCN11A | c.662T>G (p.Leu221Arg) c.706T>G (n.706T>G) c.81T>G (p.Pro27=) c.1037T>G (p.Leu346Arg) c.389T>G (p.Leu130Arg) | gnomAD v4 |
| 3 | g.38925465A>G | CA352173342 | SCN11A | c.662T>C (p.Leu221Pro) c.706T>C (n.706T>C) c.81T>C (p.Pro27=) c.1037T>C (p.Leu346Pro) c.389T>C (p.Leu130Pro) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38925465A>T | CA352173340 | SCN11A | c.662T>A (p.Leu221Gln) c.706T>A (n.706T>A) c.81T>A (p.Pro27=) c.1037T>A (p.Leu346Gln) c.389T>A (p.Leu130Gln) | |
| 3 | g.38925466G>A | CA433142274 | SCN11A | c.661C>T (p.Leu221=) c.705C>T (n.705C>T) c.80C>T (p.Pro27Leu) c.1036C>T (p.Leu346=) c.388C>T (p.Leu130=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38925466G>C | CA352173345 | SCN11A | c.661C>G (p.Leu221Val) c.705C>G (n.705C>G) c.80C>G (p.Pro27Arg) c.1036C>G (p.Leu346Val) c.388C>G (p.Leu130Val) | |
| 3 | g.38925466G= | CA1358731592 | SCN11A | c.661C= (p.Leu221=) c.705C= (n.705C=) c.80C= (p.Pro27=) c.1036C= (p.Leu346=) c.388C= (p.Leu130=) | |
| 3 | g.38925466G>T | CA352173348 | SCN11A | c.661C>A (p.Leu221Met) c.705C>A (n.705C>A) c.80C>A (p.Pro27His) c.1036C>A (p.Leu346Met) c.388C>A (p.Leu130Met) |