UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135765065A>C | CA375499930 | KCNT1 | c.1070A>C (p.Gln357Pro) c.911A>C (p.Gln304Pro) c.818A>C (p.Gln273Pro) c.827A>C (p.Gln276Pro) c.971A>C (p.Gln324Pro) c.*680A>C (n.*680A>C) c.953A>C (p.Gln318Pro) c.1013A>C (p.Gln338Pro) n.889A>C c.935A>C (p.Gln312Pro) c.1205A>C (p.Gln402Pro) c.1214A>C (p.Gln405Pro) c.560A>C (p.Gln187Pro) c.1004A>C (p.Gln335Pro) | |
| 9 | g.135765065A>G | CA375499932 | KCNT1 | c.1070A>G (p.Gln357Arg) c.911A>G (p.Gln304Arg) c.818A>G (p.Gln273Arg) c.827A>G (p.Gln276Arg) c.971A>G (p.Gln324Arg) c.*680A>G (n.*680A>G) c.953A>G (p.Gln318Arg) c.1013A>G (p.Gln338Arg) n.889A>G c.935A>G (p.Gln312Arg) c.1205A>G (p.Gln402Arg) c.1214A>G (p.Gln405Arg) c.560A>G (p.Gln187Arg) c.1004A>G (p.Gln335Arg) | |
| 9 | g.135765065A>T | CA375499934 | KCNT1 | c.1070A>T (p.Gln357Leu) c.911A>T (p.Gln304Leu) c.818A>T (p.Gln273Leu) c.827A>T (p.Gln276Leu) c.971A>T (p.Gln324Leu) c.*680A>T (n.*680A>T) c.953A>T (p.Gln318Leu) c.1013A>T (p.Gln338Leu) n.889A>T c.935A>T (p.Gln312Leu) c.1205A>T (p.Gln402Leu) c.1214A>T (p.Gln405Leu) c.560A>T (p.Gln187Leu) c.1004A>T (p.Gln335Leu) | |
| 9 | g.135765066G>A | CA467697997 | KCNT1 | c.1071G>A (p.Gln357=) c.912G>A (p.Gln304=) c.819G>A (p.Gln273=) c.828G>A (p.Gln276=) c.972G>A (p.Gln324=) c.*681G>A (n.*681G>A) c.954G>A (p.Gln318=) c.1014G>A (p.Gln338=) n.890G>A c.936G>A (p.Gln312=) c.1206G>A (p.Gln402=) c.1215G>A (p.Gln405=) c.561G>A (p.Gln187=) c.1005G>A (p.Gln335=) | COSMIC COSMIC |
| 9 | g.135765066G>C | CA375499936 | KCNT1 | c.1071G>C (p.Gln357His) c.912G>C (p.Gln304His) c.819G>C (p.Gln273His) c.828G>C (p.Gln276His) c.972G>C (p.Gln324His) c.*681G>C (n.*681G>C) c.954G>C (p.Gln318His) c.1014G>C (p.Gln338His) n.890G>C c.936G>C (p.Gln312His) c.1206G>C (p.Gln402His) c.1215G>C (p.Gln405His) c.561G>C (p.Gln187His) c.1005G>C (p.Gln335His) | |
| 9 | g.135765066G>T | CA375499938 | KCNT1 | c.1071G>T (p.Gln357His) c.912G>T (p.Gln304His) c.819G>T (p.Gln273His) c.828G>T (p.Gln276His) c.972G>T (p.Gln324His) c.*681G>T (n.*681G>T) c.954G>T (p.Gln318His) c.1014G>T (p.Gln338His) n.890G>T c.936G>T (p.Gln312His) c.1206G>T (p.Gln402His) c.1215G>T (p.Gln405His) c.561G>T (p.Gln187His) c.1005G>T (p.Gln335His) | |
| 9 | g.135765067A>C | CA375499941 | KCNT1 | c.1072A>C (p.Lys358Gln) c.913A>C (p.Lys305Gln) c.820A>C (p.Lys274Gln) c.829A>C (p.Lys277Gln) c.973A>C (p.Lys325Gln) c.*682A>C (n.*682A>C) c.955A>C (p.Lys319Gln) c.1015A>C (p.Lys339Gln) n.891A>C c.937A>C (p.Lys313Gln) c.1207A>C (p.Lys403Gln) c.1216A>C (p.Lys406Gln) c.562A>C (p.Lys188Gln) c.1006A>C (p.Lys336Gln) | |
| 9 | g.135765067A>G | CA375499944 | KCNT1 | c.1072A>G (p.Lys358Glu) c.913A>G (p.Lys305Glu) c.820A>G (p.Lys274Glu) c.829A>G (p.Lys277Glu) c.973A>G (p.Lys325Glu) c.*682A>G (n.*682A>G) c.955A>G (p.Lys319Glu) c.1015A>G (p.Lys339Glu) n.891A>G c.937A>G (p.Lys313Glu) c.1207A>G (p.Lys403Glu) c.1216A>G (p.Lys406Glu) c.562A>G (p.Lys188Glu) c.1006A>G (p.Lys336Glu) | |
| 9 | g.135765067A>T | CA375499943 | KCNT1 | c.1072A>T (p.Lys358Ter) c.913A>T (p.Lys305Ter) c.820A>T (p.Lys274Ter) c.829A>T (p.Lys277Ter) c.973A>T (p.Lys325Ter) c.*682A>T (n.*682A>T) c.955A>T (p.Lys319Ter) c.1015A>T (p.Lys339Ter) n.891A>T c.937A>T (p.Lys313Ter) c.1207A>T (p.Lys403Ter) c.1216A>T (p.Lys406Ter) c.562A>T (p.Lys188Ter) c.1006A>T (p.Lys336Ter) | |
| 9 | g.135765068A>C | CA375499946 | KCNT1 | c.1073A>C (p.Lys358Thr) c.914A>C (p.Lys305Thr) c.821A>C (p.Lys274Thr) c.830A>C (p.Lys277Thr) c.974A>C (p.Lys325Thr) c.*683A>C (n.*683A>C) c.956A>C (p.Lys319Thr) c.1016A>C (p.Lys339Thr) n.892A>C c.938A>C (p.Lys313Thr) c.1208A>C (p.Lys403Thr) c.1217A>C (p.Lys406Thr) c.563A>C (p.Lys188Thr) c.1007A>C (p.Lys336Thr) | |
| 9 | g.135765068A>G | CA375499948 | KCNT1 | c.1073A>G (p.Lys358Arg) c.914A>G (p.Lys305Arg) c.821A>G (p.Lys274Arg) c.830A>G (p.Lys277Arg) c.974A>G (p.Lys325Arg) c.*683A>G (n.*683A>G) c.956A>G (p.Lys319Arg) c.1016A>G (p.Lys339Arg) n.892A>G c.938A>G (p.Lys313Arg) c.1208A>G (p.Lys403Arg) c.1217A>G (p.Lys406Arg) c.563A>G (p.Lys188Arg) c.1007A>G (p.Lys336Arg) | gnomAD v4 |
| 9 | g.135765068A>T | CA375499950 | KCNT1 | c.1073A>T (p.Lys358Met) c.914A>T (p.Lys305Met) c.821A>T (p.Lys274Met) c.830A>T (p.Lys277Met) c.974A>T (p.Lys325Met) c.*683A>T (n.*683A>T) c.956A>T (p.Lys319Met) c.1016A>T (p.Lys339Met) n.892A>T c.938A>T (p.Lys313Met) c.1208A>T (p.Lys403Met) c.1217A>T (p.Lys406Met) c.563A>T (p.Lys188Met) c.1007A>T (p.Lys336Met) | |
| 9 | g.135765069G>A | CA467698002 | KCNT1 | c.1074G>A (p.Lys358=) c.915G>A (p.Lys305=) c.822G>A (p.Lys274=) c.831G>A (p.Lys277=) c.975G>A (p.Lys325=) c.*684G>A (n.*684G>A) c.957G>A (p.Lys319=) c.1017G>A (p.Lys339=) n.893G>A c.939G>A (p.Lys313=) c.1209G>A (p.Lys403=) c.1218G>A (p.Lys406=) c.564G>A (p.Lys188=) c.1008G>A (p.Lys336=) | gnomAD v4 |
| 9 | g.135765069G>C | CA375499952 | KCNT1 | c.1074G>C (p.Lys358Asn) c.915G>C (p.Lys305Asn) c.822G>C (p.Lys274Asn) c.831G>C (p.Lys277Asn) c.975G>C (p.Lys325Asn) c.*684G>C (n.*684G>C) c.957G>C (p.Lys319Asn) c.1017G>C (p.Lys339Asn) n.893G>C c.939G>C (p.Lys313Asn) c.1209G>C (p.Lys403Asn) c.1218G>C (p.Lys406Asn) c.564G>C (p.Lys188Asn) c.1008G>C (p.Lys336Asn) | |
| 9 | g.135765069G>T | CA375499953 | KCNT1 | c.1074G>T (p.Lys358Asn) c.915G>T (p.Lys305Asn) c.822G>T (p.Lys274Asn) c.831G>T (p.Lys277Asn) c.975G>T (p.Lys325Asn) c.*684G>T (n.*684G>T) c.957G>T (p.Lys319Asn) c.1017G>T (p.Lys339Asn) n.893G>T c.939G>T (p.Lys313Asn) c.1209G>T (p.Lys403Asn) c.1218G>T (p.Lys406Asn) c.564G>T (p.Lys188Asn) c.1008G>T (p.Lys336Asn) | |
| 9 | g.135765070T>A | CA375499956 | KCNT1 | c.1075T>A (p.Ser359Thr) c.916T>A (p.Ser306Thr) c.823T>A (p.Ser275Thr) c.832T>A (p.Ser278Thr) c.976T>A (p.Ser326Thr) c.*685T>A (n.*685T>A) c.958T>A (p.Ser320Thr) c.1018T>A (p.Ser340Thr) n.894T>A c.940T>A (p.Ser314Thr) c.1210T>A (p.Ser404Thr) c.1219T>A (p.Ser407Thr) c.565T>A (p.Ser189Thr) c.1009T>A (p.Ser337Thr) | |
| 9 | g.135765070T>C | CA375499957 | KCNT1 | c.1075T>C (p.Ser359Pro) c.916T>C (p.Ser306Pro) c.823T>C (p.Ser275Pro) c.832T>C (p.Ser278Pro) c.976T>C (p.Ser326Pro) c.*685T>C (n.*685T>C) c.958T>C (p.Ser320Pro) c.1018T>C (p.Ser340Pro) n.894T>C c.940T>C (p.Ser314Pro) c.1210T>C (p.Ser404Pro) c.1219T>C (p.Ser407Pro) c.565T>C (p.Ser189Pro) c.1009T>C (p.Ser337Pro) | ClinVar |
| 9 | g.135765070T>G | CA375499959 | KCNT1 | c.1075T>G (p.Ser359Ala) c.916T>G (p.Ser306Ala) c.823T>G (p.Ser275Ala) c.832T>G (p.Ser278Ala) c.976T>G (p.Ser326Ala) c.*685T>G (n.*685T>G) c.958T>G (p.Ser320Ala) c.1018T>G (p.Ser340Ala) n.894T>G c.940T>G (p.Ser314Ala) c.1210T>G (p.Ser404Ala) c.1219T>G (p.Ser407Ala) c.565T>G (p.Ser189Ala) c.1009T>G (p.Ser337Ala) | dbSNP |
| 9 | g.135765070T= | CA1883866297 | KCNT1 | c.1075T= (p.Ser359=) c.916T= (p.Ser306=) c.823T= (p.Ser275=) c.832T= (p.Ser278=) c.976T= (p.Ser326=) c.*685T= (n.*685T=) c.958T= (p.Ser320=) c.1018T= (p.Ser340=) n.894T= c.940T= (p.Ser314=) c.1210T= (p.Ser404=) c.1219T= (p.Ser407=) c.565T= (p.Ser189=) c.1009T= (p.Ser337=) | |
| 9 | g.135765071C>A | CA375499960 | KCNT1 | c.1076C>A (p.Ser359Ter) c.917C>A (p.Ser306Ter) c.824C>A (p.Ser275Ter) c.833C>A (p.Ser278Ter) c.977C>A (p.Ser326Ter) c.*686C>A (n.*686C>A) c.959C>A (p.Ser320Ter) c.1019C>A (p.Ser340Ter) n.895C>A c.941C>A (p.Ser314Ter) c.1211C>A (p.Ser404Ter) c.1220C>A (p.Ser407Ter) c.566C>A (p.Ser189Ter) c.1010C>A (p.Ser337Ter) | |
| 9 | g.135765071C= | CA1883866299 | KCNT1 | c.1076C= (p.Ser359=) c.917C= (p.Ser306=) c.824C= (p.Ser275=) c.833C= (p.Ser278=) c.977C= (p.Ser326=) c.*686C= (n.*686C=) c.959C= (p.Ser320=) c.1019C= (p.Ser340=) n.895C= c.941C= (p.Ser314=) c.1211C= (p.Ser404=) c.1220C= (p.Ser407=) c.566C= (p.Ser189=) c.1010C= (p.Ser337=) | |
| 9 | g.135765071C>G | CA375499961 | KCNT1 | c.1076C>G (p.Ser359Ter) c.917C>G (p.Ser306Ter) c.824C>G (p.Ser275Ter) c.833C>G (p.Ser278Ter) c.977C>G (p.Ser326Ter) c.*686C>G (n.*686C>G) c.959C>G (p.Ser320Ter) c.1019C>G (p.Ser340Ter) n.895C>G c.941C>G (p.Ser314Ter) c.1211C>G (p.Ser404Ter) c.1220C>G (p.Ser407Ter) c.566C>G (p.Ser189Ter) c.1010C>G (p.Ser337Ter) | |
| 9 | g.135765071C>T | CA375499962 | KCNT1 | c.1076C>T (p.Ser359Leu) c.917C>T (p.Ser306Leu) c.824C>T (p.Ser275Leu) c.833C>T (p.Ser278Leu) c.977C>T (p.Ser326Leu) c.*686C>T (n.*686C>T) c.959C>T (p.Ser320Leu) c.1019C>T (p.Ser340Leu) n.895C>T c.941C>T (p.Ser314Leu) c.1211C>T (p.Ser404Leu) c.1220C>T (p.Ser407Leu) c.566C>T (p.Ser189Leu) c.1010C>T (p.Ser337Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135765071_135765073delinsCAG | CA1883866298 | KCNT1 | c.1076_1078delinsCAG (p.Ser359=) c.917_919delinsCAG (p.Ser306=) c.824_826delinsCAG (p.Ser275=) c.833_835delinsCAG (p.Ser278=) c.977_979delinsCAG (p.Ser326=) c.*686_*688delinsCAG (n.*686_*688delinsCAG) c.959_961delinsCAG (p.Ser320=) c.1019_1021delinsCAG (p.Ser340=) n.895_897delinsCAG c.941_943delinsCAG (p.Ser314=) c.1211_1213delinsCAG (p.Ser404=) c.1220_1222delinsCAG (p.Ser407=) c.566_568delinsCAG (p.Ser189=) c.1010_1012delinsCAG (p.Ser337=) | |
| 9 | g.135765072del | CA2692516081 | KCNT1 | c.1077del (p.Gly361AlafsTer?) c.918del (p.Gly308AlafsTer?) c.825del (p.Gly277AlafsTer?) c.834del (p.Gly280AlafsTer?) c.978del (p.Gly328AlafsTer?) c.*687del (n.*687del) c.960del (p.Gly322AlafsTer?) c.1020del (p.Gly342AlafsTer?) n.896del c.942del (p.Gly316AlafsTer?) c.1212del (p.Gly406AlafsTer?) c.1221del (p.Gly409AlafsTer?) c.567del (p.Gly191AlafsTer?) c.1011del (p.Gly339AlafsTer?) | gnomAD v4 |
| 9 | g.135765072A= | CA1883866301 | KCNT1 | c.1077A= (p.Ser359=) c.918A= (p.Ser306=) c.825A= (p.Ser275=) c.834A= (p.Ser278=) c.978A= (p.Ser326=) c.*687A= (n.*687A=) c.960A= (p.Ser320=) c.1020A= (p.Ser340=) n.896A= c.942A= (p.Ser314=) c.1212A= (p.Ser404=) c.1221A= (p.Ser407=) c.567A= (p.Ser189=) c.1011A= (p.Ser337=) | |
| 9 | g.135765072A>C | CA467698009 | KCNT1 | c.1077A>C (p.Ser359=) c.918A>C (p.Ser306=) c.825A>C (p.Ser275=) c.834A>C (p.Ser278=) c.978A>C (p.Ser326=) c.*687A>C (n.*687A>C) c.960A>C (p.Ser320=) c.1020A>C (p.Ser340=) n.896A>C c.942A>C (p.Ser314=) c.1212A>C (p.Ser404=) c.1221A>C (p.Ser407=) c.567A>C (p.Ser189=) c.1011A>C (p.Ser337=) | |
| 9 | g.135765072A>G | CA5326768 | KCNT1 | c.1077A>G (p.Ser359=) c.918A>G (p.Ser306=) c.825A>G (p.Ser275=) c.834A>G (p.Ser278=) c.978A>G (p.Ser326=) c.*687A>G (n.*687A>G) c.960A>G (p.Ser320=) c.1020A>G (p.Ser340=) n.896A>G c.942A>G (p.Ser314=) c.1212A>G (p.Ser404=) c.1221A>G (p.Ser407=) c.567A>G (p.Ser189=) c.1011A>G (p.Ser337=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135765072A>T | CA467698007 | KCNT1 | c.1077A>T (p.Ser359=) c.918A>T (p.Ser306=) c.825A>T (p.Ser275=) c.834A>T (p.Ser278=) c.978A>T (p.Ser326=) c.*687A>T (n.*687A>T) c.960A>T (p.Ser320=) c.1020A>T (p.Ser340=) n.896A>T c.942A>T (p.Ser314=) c.1212A>T (p.Ser404=) c.1221A>T (p.Ser407=) c.567A>T (p.Ser189=) c.1011A>T (p.Ser337=) | |
| 9 | g.135765072_135765073del | CA5326765 | KCNT1 | c.1077_1078del (p.Gly361GlnfsTer?) c.918_919del (p.Gly308GlnfsTer?) c.825_826del (p.Gly277GlnfsTer?) c.834_835del (p.Gly280GlnfsTer?) c.978_979del (p.Gly328GlnfsTer?) c.*687_*688del (n.*687_*688del) c.960_961del (p.Gly322GlnfsTer?) c.1020_1021del (p.Gly342GlnfsTer?) n.896_897del c.942_943del (p.Gly316GlnfsTer?) c.1212_1213del (p.Gly406GlnfsTer?) c.1221_1222del (p.Gly409GlnfsTer?) c.567_568del (p.Gly191GlnfsTer?) c.1011_1012del (p.Gly339GlnfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135765072_135765073delinsAG | CA1883866300 | KCNT1 | c.1077_1078delinsAG (p.Ser359=) c.918_919delinsAG (p.Ser306=) c.825_826delinsAG (p.Ser275=) c.834_835delinsAG (p.Ser278=) c.978_979delinsAG (p.Ser326=) c.*687_*688delinsAG (n.*687_*688delinsAG) c.960_961delinsAG (p.Ser320=) c.1020_1021delinsAG (p.Ser340=) n.896_897delinsAG c.942_943delinsAG (p.Ser314=) c.1212_1213delinsAG (p.Ser404=) c.1221_1222delinsAG (p.Ser407=) c.567_568delinsAG (p.Ser189=) c.1011_1012delinsAG (p.Ser337=) | |
| 9 | g.135765072_135765074del | CA2579510779 | KCNT1 | c.1077_1079del (p.Gly360del) c.918_920del (p.Gly307del) c.825_827del (p.Gly276del) c.834_836del (p.Gly279del) c.978_980del (p.Gly327del) c.*687_*689del (n.*687_*689del) c.960_962del (p.Gly321del) c.1020_1022del (p.Gly341del) n.896_898del c.942_944del (p.Gly315del) c.1212_1214del (p.Gly405del) c.1221_1223del (p.Gly408del) c.567_569del (p.Gly190del) c.1011_1013del (p.Gly338del) | |
| 9 | g.135765072_135765073insAG | CA201465130 | KCNT1 | c.1077_1078insAG (p.Gly360ArgfsTer?) c.918_919insAG (p.Gly307ArgfsTer?) c.825_826insAG (p.Gly276ArgfsTer?) c.834_835insAG (p.Gly279ArgfsTer?) c.978_979insAG (p.Gly327ArgfsTer?) c.*687_*688insAG (n.*687_*688insAG) c.960_961insAG (p.Gly321ArgfsTer?) c.1020_1021insAG (p.Gly341ArgfsTer?) n.896_897insAG c.942_943insAG (p.Gly315ArgfsTer?) c.1212_1213insAG (p.Gly405ArgfsTer?) c.1221_1222insAG (p.Gly408ArgfsTer?) c.567_568insAG (p.Gly190ArgfsTer?) c.1011_1012insAG (p.Gly338ArgfsTer?) | |
| 9 | g.135765073G>A | CA375499963 | KCNT1 | c.1078G>A (p.Gly360Arg) c.919G>A (p.Gly307Arg) c.826G>A (p.Gly276Arg) c.835G>A (p.Gly279Arg) c.979G>A (p.Gly327Arg) c.*688G>A (n.*688G>A) c.961G>A (p.Gly321Arg) c.1021G>A (p.Gly341Arg) n.897G>A c.943G>A (p.Gly315Arg) c.1213G>A (p.Gly405Arg) c.1222G>A (p.Gly408Arg) c.568G>A (p.Gly190Arg) c.1012G>A (p.Gly338Arg) | |
| 9 | g.135765073G>C | CA375499964 | KCNT1 | c.1078G>C (p.Gly360Arg) c.919G>C (p.Gly307Arg) c.826G>C (p.Gly276Arg) c.835G>C (p.Gly279Arg) c.979G>C (p.Gly327Arg) c.*688G>C (n.*688G>C) c.961G>C (p.Gly321Arg) c.1021G>C (p.Gly341Arg) n.897G>C c.943G>C (p.Gly315Arg) c.1213G>C (p.Gly405Arg) c.1222G>C (p.Gly408Arg) c.568G>C (p.Gly190Arg) c.1012G>C (p.Gly338Arg) | |
| 9 | g.135765073G>T | CA375499965 | KCNT1 | c.1078G>T (p.Gly360Trp) c.919G>T (p.Gly307Trp) c.826G>T (p.Gly276Trp) c.835G>T (p.Gly279Trp) c.979G>T (p.Gly327Trp) c.*688G>T (n.*688G>T) c.961G>T (p.Gly321Trp) c.1021G>T (p.Gly341Trp) n.897G>T c.943G>T (p.Gly315Trp) c.1213G>T (p.Gly405Trp) c.1222G>T (p.Gly408Trp) c.568G>T (p.Gly190Trp) c.1012G>T (p.Gly338Trp) | |
| 9 | g.135765077dup | CA5326766 | KCNT1 | c.1082dup (p.Asn362GlnfsTer?) c.923dup (p.Asn309GlnfsTer?) c.830dup (p.Asn278GlnfsTer?) c.839dup (p.Asn281GlnfsTer?) c.983dup (p.Asn329GlnfsTer?) c.*692dup (n.*692dup) c.965dup (p.Asn323GlnfsTer?) c.1025dup (p.Asn343GlnfsTer?) n.901dup c.947dup (p.Asn317GlnfsTer?) c.1217dup (p.Asn407GlnfsTer?) c.1226dup (p.Asn410GlnfsTer?) c.572dup (p.Asn192GlnfsTer?) c.1016dup (p.Asn340GlnfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.135765077del | CA5326767 | KCNT1 | c.1082del (p.Gly361AlafsTer30) c.923del (p.Gly308AlafsTer30) c.830del (p.Gly277AlafsTer30) c.839del (p.Gly280AlafsTer30) c.983del (p.Gly328AlafsTer30) c.*692del (n.*692del) c.965del (p.Gly322AlafsTer30) c.1025del (p.Gly342AlafsTer30) n.901del c.947del (p.Gly316AlafsTer30) c.1217del (p.Gly406AlafsTer30) c.1226del (p.Gly409AlafsTer30) c.572del (p.Gly191AlafsTer30) c.1016del (p.Gly339AlafsTer30) | dbSNP ExAC gnomAD v2 |
| 9 | g.135765074G>A | CA375499966 | KCNT1 | c.1079G>A (p.Gly360Glu) c.920G>A (p.Gly307Glu) c.827G>A (p.Gly276Glu) c.836G>A (p.Gly279Glu) c.980G>A (p.Gly327Glu) c.*689G>A (n.*689G>A) c.962G>A (p.Gly321Glu) c.1022G>A (p.Gly341Glu) n.898G>A c.944G>A (p.Gly315Glu) c.1214G>A (p.Gly405Glu) c.1223G>A (p.Gly408Glu) c.569G>A (p.Gly190Glu) c.1013G>A (p.Gly338Glu) | |
| 9 | g.135765074G>C | CA375499967 | KCNT1 | c.1079G>C (p.Gly360Ala) c.920G>C (p.Gly307Ala) c.827G>C (p.Gly276Ala) c.836G>C (p.Gly279Ala) c.980G>C (p.Gly327Ala) c.*689G>C (n.*689G>C) c.962G>C (p.Gly321Ala) c.1022G>C (p.Gly341Ala) n.898G>C c.944G>C (p.Gly315Ala) c.1214G>C (p.Gly405Ala) c.1223G>C (p.Gly408Ala) c.569G>C (p.Gly190Ala) c.1013G>C (p.Gly338Ala) | |
| 9 | g.135765074G>T | CA375499968 | KCNT1 | c.1079G>T (p.Gly360Val) c.920G>T (p.Gly307Val) c.827G>T (p.Gly276Val) c.836G>T (p.Gly279Val) c.980G>T (p.Gly327Val) c.*689G>T (n.*689G>T) c.962G>T (p.Gly321Val) c.1022G>T (p.Gly341Val) n.898G>T c.944G>T (p.Gly315Val) c.1214G>T (p.Gly405Val) c.1223G>T (p.Gly408Val) c.569G>T (p.Gly190Val) c.1013G>T (p.Gly338Val) | |
| 9 | g.135765075G>A | CA467698013 | KCNT1 | c.1080G>A (p.Gly360=) c.921G>A (p.Gly307=) c.828G>A (p.Gly276=) c.837G>A (p.Gly279=) c.981G>A (p.Gly327=) c.*690G>A (n.*690G>A) c.963G>A (p.Gly321=) c.1023G>A (p.Gly341=) n.899G>A c.945G>A (p.Gly315=) c.1215G>A (p.Gly405=) c.1224G>A (p.Gly408=) c.570G>A (p.Gly190=) c.1014G>A (p.Gly338=) | dbSNP |
| 9 | g.135765075G>C | CA467698015 | KCNT1 | c.1080G>C (p.Gly360=) c.921G>C (p.Gly307=) c.828G>C (p.Gly276=) c.837G>C (p.Gly279=) c.981G>C (p.Gly327=) c.*690G>C (n.*690G>C) c.963G>C (p.Gly321=) c.1023G>C (p.Gly341=) n.899G>C c.945G>C (p.Gly315=) c.1215G>C (p.Gly405=) c.1224G>C (p.Gly408=) c.570G>C (p.Gly190=) c.1014G>C (p.Gly338=) | |
| 9 | g.135765075G= | CA1883866302 | KCNT1 | c.1080G= (p.Gly360=) c.921G= (p.Gly307=) c.828G= (p.Gly276=) c.837G= (p.Gly279=) c.981G= (p.Gly327=) c.*690G= (n.*690G=) c.963G= (p.Gly321=) c.1023G= (p.Gly341=) n.899G= c.945G= (p.Gly315=) c.1215G= (p.Gly405=) c.1224G= (p.Gly408=) c.570G= (p.Gly190=) c.1014G= (p.Gly338=) | |
| 9 | g.135765075G>T | CA467698016 | KCNT1 | c.1080G>T (p.Gly360=) c.921G>T (p.Gly307=) c.828G>T (p.Gly276=) c.837G>T (p.Gly279=) c.981G>T (p.Gly327=) c.*690G>T (n.*690G>T) c.963G>T (p.Gly321=) c.1023G>T (p.Gly341=) n.899G>T c.945G>T (p.Gly315=) c.1215G>T (p.Gly405=) c.1224G>T (p.Gly408=) c.570G>T (p.Gly190=) c.1014G>T (p.Gly338=) | |
| 9 | g.135765076G>A | CA375499969 | KCNT1 | c.1081G>A (p.Gly361Ser) c.922G>A (p.Gly308Ser) c.829G>A (p.Gly277Ser) c.838G>A (p.Gly280Ser) c.982G>A (p.Gly328Ser) c.*691G>A (n.*691G>A) c.964G>A (p.Gly322Ser) c.1024G>A (p.Gly342Ser) n.900G>A c.946G>A (p.Gly316Ser) c.1216G>A (p.Gly406Ser) c.1225G>A (p.Gly409Ser) c.571G>A (p.Gly191Ser) c.1015G>A (p.Gly339Ser) | ClinVar |
| 9 | g.135765076G>C | CA375499971 | KCNT1 | c.1081G>C (p.Gly361Arg) c.922G>C (p.Gly308Arg) c.829G>C (p.Gly277Arg) c.838G>C (p.Gly280Arg) c.982G>C (p.Gly328Arg) c.*691G>C (n.*691G>C) c.964G>C (p.Gly322Arg) c.1024G>C (p.Gly342Arg) n.900G>C c.946G>C (p.Gly316Arg) c.1216G>C (p.Gly406Arg) c.1225G>C (p.Gly409Arg) c.571G>C (p.Gly191Arg) c.1015G>C (p.Gly339Arg) | |
| 9 | g.135765076G>T | CA375499972 | KCNT1 | c.1081G>T (p.Gly361Cys) c.922G>T (p.Gly308Cys) c.829G>T (p.Gly277Cys) c.838G>T (p.Gly280Cys) c.982G>T (p.Gly328Cys) c.*691G>T (n.*691G>T) c.964G>T (p.Gly322Cys) c.1024G>T (p.Gly342Cys) n.900G>T c.946G>T (p.Gly316Cys) c.1216G>T (p.Gly406Cys) c.1225G>T (p.Gly409Cys) c.571G>T (p.Gly191Cys) c.1015G>T (p.Gly339Cys) | COSMIC COSMIC |
| 9 | g.135765077G>A | CA375499976 | KCNT1 | c.1082G>A (p.Gly361Asp) c.923G>A (p.Gly308Asp) c.830G>A (p.Gly277Asp) c.839G>A (p.Gly280Asp) c.983G>A (p.Gly328Asp) c.*692G>A (n.*692G>A) c.965G>A (p.Gly322Asp) c.1025G>A (p.Gly342Asp) n.901G>A c.947G>A (p.Gly316Asp) c.1217G>A (p.Gly406Asp) c.1226G>A (p.Gly409Asp) c.572G>A (p.Gly191Asp) c.1016G>A (p.Gly339Asp) | gnomAD v4 |
| 9 | g.135765077G>C | CA375499978 | KCNT1 | c.1082G>C (p.Gly361Ala) c.923G>C (p.Gly308Ala) c.830G>C (p.Gly277Ala) c.839G>C (p.Gly280Ala) c.983G>C (p.Gly328Ala) c.*692G>C (n.*692G>C) c.965G>C (p.Gly322Ala) c.1025G>C (p.Gly342Ala) n.901G>C c.947G>C (p.Gly316Ala) c.1217G>C (p.Gly406Ala) c.1226G>C (p.Gly409Ala) c.572G>C (p.Gly191Ala) c.1016G>C (p.Gly339Ala) |