WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38872224A= | CA1358707917 | SCN11A | c.3464T= (p.Leu1155=) c.3518T= (n.3518T=) c.3284T= (p.Leu1095=) c.3508T= (n.3508T=) c.3083T= (p.Leu1028=) c.3350T= (p.Leu1117=) c.2801T= (p.Leu934=) c.2012T= (p.Leu671=) c.3839T= (p.Leu1280=) c.3266T= (p.Leu1089=) c.3191T= (p.Leu1064=) c.1868T= (p.Leu623=) | |
| 3 | g.38872224A>C | CA352171309 | SCN11A | c.3464T>G (p.Leu1155Arg) c.3518T>G (n.3518T>G) c.3284T>G (p.Leu1095Arg) c.3508T>G (n.3508T>G) c.3083T>G (p.Leu1028Arg) c.3350T>G (p.Leu1117Arg) c.2801T>G (p.Leu934Arg) c.2012T>G (p.Leu671Arg) c.3839T>G (p.Leu1280Arg) c.3266T>G (p.Leu1089Arg) c.3191T>G (p.Leu1064Arg) c.1868T>G (p.Leu623Arg) | |
| 3 | g.38872224A>G | CA72980401 | SCN11A | c.3464T>C (p.Leu1155Pro) c.3518T>C (n.3518T>C) c.3284T>C (p.Leu1095Pro) c.3508T>C (n.3508T>C) c.3083T>C (p.Leu1028Pro) c.3350T>C (p.Leu1117Pro) c.2801T>C (p.Leu934Pro) c.2012T>C (p.Leu671Pro) c.3839T>C (p.Leu1280Pro) c.3266T>C (p.Leu1089Pro) c.3191T>C (p.Leu1064Pro) c.1868T>C (p.Leu623Pro) | dbSNP |
| 3 | g.38872224A>T | CA352171310 | SCN11A | c.3464T>A (p.Leu1155His) c.3518T>A (n.3518T>A) c.3284T>A (p.Leu1095His) c.3508T>A (n.3508T>A) c.3083T>A (p.Leu1028His) c.3350T>A (p.Leu1117His) c.2801T>A (p.Leu934His) c.2012T>A (p.Leu671His) c.3839T>A (p.Leu1280His) c.3266T>A (p.Leu1089His) c.3191T>A (p.Leu1064His) c.1868T>A (p.Leu623His) | |
| 3 | g.38872225G>A | CA352171311 | SCN11A | c.3463C>T (p.Leu1155Phe) c.3517C>T (n.3517C>T) c.3283C>T (p.Leu1095Phe) c.3507C>T (n.3507C>T) c.3082C>T (p.Leu1028Phe) c.3349C>T (p.Leu1117Phe) c.2800C>T (p.Leu934Phe) c.2011C>T (p.Leu671Phe) c.3838C>T (p.Leu1280Phe) c.3265C>T (p.Leu1089Phe) c.3190C>T (p.Leu1064Phe) c.1867C>T (p.Leu623Phe) | |
| 3 | g.38872225G>C | CA352171312 | SCN11A | c.3463C>G (p.Leu1155Val) c.3517C>G (n.3517C>G) c.3283C>G (p.Leu1095Val) c.3507C>G (n.3507C>G) c.3082C>G (p.Leu1028Val) c.3349C>G (p.Leu1117Val) c.2800C>G (p.Leu934Val) c.2011C>G (p.Leu671Val) c.3838C>G (p.Leu1280Val) c.3265C>G (p.Leu1089Val) c.3190C>G (p.Leu1064Val) c.1867C>G (p.Leu623Val) | |
| 3 | g.38872225G>T | CA352171313 | SCN11A | c.3463C>A (p.Leu1155Ile) c.3517C>A (n.3517C>A) c.3283C>A (p.Leu1095Ile) c.3507C>A (n.3507C>A) c.3082C>A (p.Leu1028Ile) c.3349C>A (p.Leu1117Ile) c.2800C>A (p.Leu934Ile) c.2011C>A (p.Leu671Ile) c.3838C>A (p.Leu1280Ile) c.3265C>A (p.Leu1089Ile) c.3190C>A (p.Leu1064Ile) c.1867C>A (p.Leu623Ile) | |
| 3 | g.38872226A>C | CA433142059 | SCN11A | c.3462T>G (p.Pro1154=) c.3516T>G (n.3516T>G) c.3282T>G (p.Pro1094=) c.3506T>G (n.3506T>G) c.3081T>G (p.Pro1027=) c.3348T>G (p.Pro1116=) c.2799T>G (p.Pro933=) c.2010T>G (p.Pro670=) c.3837T>G (p.Pro1279=) c.3264T>G (p.Pro1088=) c.3189T>G (p.Pro1063=) c.1866T>G (p.Pro622=) | |
| 3 | g.38872226A>G | CA433142060 | SCN11A | c.3462T>C (p.Pro1154=) c.3516T>C (n.3516T>C) c.3282T>C (p.Pro1094=) c.3506T>C (n.3506T>C) c.3081T>C (p.Pro1027=) c.3348T>C (p.Pro1116=) c.2799T>C (p.Pro933=) c.2010T>C (p.Pro670=) c.3837T>C (p.Pro1279=) c.3264T>C (p.Pro1088=) c.3189T>C (p.Pro1063=) c.1866T>C (p.Pro622=) | |
| 3 | g.38872226A>T | CA433142061 | SCN11A | c.3462T>A (p.Pro1154=) c.3516T>A (n.3516T>A) c.3282T>A (p.Pro1094=) c.3506T>A (n.3506T>A) c.3081T>A (p.Pro1027=) c.3348T>A (p.Pro1116=) c.2799T>A (p.Pro933=) c.2010T>A (p.Pro670=) c.3837T>A (p.Pro1279=) c.3264T>A (p.Pro1088=) c.3189T>A (p.Pro1063=) c.1866T>A (p.Pro622=) | |
| 3 | g.38872227G>A | CA2321781 | SCN11A | c.3461C>T (p.Pro1154Leu) c.3515C>T (n.3515C>T) c.3281C>T (p.Pro1094Leu) c.3505C>T (n.3505C>T) c.3080C>T (p.Pro1027Leu) c.3347C>T (p.Pro1116Leu) c.2798C>T (p.Pro933Leu) c.2009C>T (p.Pro670Leu) c.3836C>T (p.Pro1279Leu) c.3263C>T (p.Pro1088Leu) c.3188C>T (p.Pro1063Leu) c.1865C>T (p.Pro622Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38872227G>C | CA352171314 | SCN11A | c.3461C>G (p.Pro1154Arg) c.3515C>G (n.3515C>G) c.3281C>G (p.Pro1094Arg) c.3505C>G (n.3505C>G) c.3080C>G (p.Pro1027Arg) c.3347C>G (p.Pro1116Arg) c.2798C>G (p.Pro933Arg) c.2009C>G (p.Pro670Arg) c.3836C>G (p.Pro1279Arg) c.3263C>G (p.Pro1088Arg) c.3188C>G (p.Pro1063Arg) c.1865C>G (p.Pro622Arg) | |
| 3 | g.38872227G= | CA1358707920 | SCN11A | c.3461C= (p.Pro1154=) c.3515C= (n.3515C=) c.3281C= (p.Pro1094=) c.3505C= (n.3505C=) c.3080C= (p.Pro1027=) c.3347C= (p.Pro1116=) c.2798C= (p.Pro933=) c.2009C= (p.Pro670=) c.3836C= (p.Pro1279=) c.3263C= (p.Pro1088=) c.3188C= (p.Pro1063=) c.1865C= (p.Pro622=) | |
| 3 | g.38872227G>T | CA352171315 | SCN11A | c.3461C>A (p.Pro1154His) c.3515C>A (n.3515C>A) c.3281C>A (p.Pro1094His) c.3505C>A (n.3505C>A) c.3080C>A (p.Pro1027His) c.3347C>A (p.Pro1116His) c.2798C>A (p.Pro933His) c.2009C>A (p.Pro670His) c.3836C>A (p.Pro1279His) c.3263C>A (p.Pro1088His) c.3188C>A (p.Pro1063His) c.1865C>A (p.Pro622His) | |
| 3 | g.38872228G>A | CA352171316 | SCN11A | c.3460C>T (p.Pro1154Ser) c.3514C>T (n.3514C>T) c.3280C>T (p.Pro1094Ser) c.3504C>T (n.3504C>T) c.3079C>T (p.Pro1027Ser) c.3346C>T (p.Pro1116Ser) c.2797C>T (p.Pro933Ser) c.2008C>T (p.Pro670Ser) c.3835C>T (p.Pro1279Ser) c.3262C>T (p.Pro1088Ser) c.3187C>T (p.Pro1063Ser) c.1864C>T (p.Pro622Ser) | |
| 3 | g.38872228G>C | CA352171317 | SCN11A | c.3460C>G (p.Pro1154Ala) c.3514C>G (n.3514C>G) c.3280C>G (p.Pro1094Ala) c.3504C>G (n.3504C>G) c.3079C>G (p.Pro1027Ala) c.3346C>G (p.Pro1116Ala) c.2797C>G (p.Pro933Ala) c.2008C>G (p.Pro670Ala) c.3835C>G (p.Pro1279Ala) c.3262C>G (p.Pro1088Ala) c.3187C>G (p.Pro1063Ala) c.1864C>G (p.Pro622Ala) | |
| 3 | g.38872228G>T | CA352171318 | SCN11A | c.3460C>A (p.Pro1154Thr) c.3514C>A (n.3514C>A) c.3280C>A (p.Pro1094Thr) c.3504C>A (n.3504C>A) c.3079C>A (p.Pro1027Thr) c.3346C>A (p.Pro1116Thr) c.2797C>A (p.Pro933Thr) c.2008C>A (p.Pro670Thr) c.3835C>A (p.Pro1279Thr) c.3262C>A (p.Pro1088Thr) c.3187C>A (p.Pro1063Thr) c.1864C>A (p.Pro622Thr) | gnomAD v4 |
| 3 | g.38872229C>A | CA352171319 | SCN11A | c.3459G>T (p.Arg1153Ser) c.3513G>T (n.3513G>T) c.3279G>T (p.Arg1093Ser) c.3503G>T (n.3503G>T) c.3078G>T (p.Arg1026Ser) c.3345G>T (p.Arg1115Ser) c.2796G>T (p.Arg932Ser) c.2007G>T (p.Arg669Ser) c.3834G>T (p.Arg1278Ser) c.3261G>T (p.Arg1087Ser) c.3186G>T (p.Arg1062Ser) c.1863G>T (p.Arg621Ser) | ClinVar |
| 3 | g.38872229C= | CA1358707923 | SCN11A | c.3459G= (p.Arg1153=) c.3513G= (n.3513G=) c.3279G= (p.Arg1093=) c.3503G= (n.3503G=) c.3078G= (p.Arg1026=) c.3345G= (p.Arg1115=) c.2796G= (p.Arg932=) c.2007G= (p.Arg669=) c.3834G= (p.Arg1278=) c.3261G= (p.Arg1087=) c.3186G= (p.Arg1062=) c.1863G= (p.Arg621=) | |
| 3 | g.38872229C>G | CA2321782 | SCN11A | c.3459G>C (p.Arg1153Ser) c.3513G>C (n.3513G>C) c.3279G>C (p.Arg1093Ser) c.3503G>C (n.3503G>C) c.3078G>C (p.Arg1026Ser) c.3345G>C (p.Arg1115Ser) c.2796G>C (p.Arg932Ser) c.2007G>C (p.Arg669Ser) c.3834G>C (p.Arg1278Ser) c.3261G>C (p.Arg1087Ser) c.3186G>C (p.Arg1062Ser) c.1863G>C (p.Arg621Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38872229C>T | CA433142063 | SCN11A | c.3459G>A (p.Arg1153=) c.3513G>A (n.3513G>A) c.3279G>A (p.Arg1093=) c.3503G>A (n.3503G>A) c.3078G>A (p.Arg1026=) c.3345G>A (p.Arg1115=) c.2796G>A (p.Arg932=) c.2007G>A (p.Arg669=) c.3834G>A (p.Arg1278=) c.3261G>A (p.Arg1087=) c.3186G>A (p.Arg1062=) c.1863G>A (p.Arg621=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38872230C>A | CA352171320 | SCN11A | c.3458G>T (p.Arg1153Met) c.3512G>T (n.3512G>T) c.3278G>T (p.Arg1093Met) c.3502G>T (n.3502G>T) c.3077G>T (p.Arg1026Met) c.3344G>T (p.Arg1115Met) c.2795G>T (p.Arg932Met) c.2006G>T (p.Arg669Met) c.3833G>T (p.Arg1278Met) c.3260G>T (p.Arg1087Met) c.3185G>T (p.Arg1062Met) c.1862G>T (p.Arg621Met) | |
| 3 | g.38872230C>G | CA352171321 | SCN11A | c.3458G>C (p.Arg1153Thr) c.3512G>C (n.3512G>C) c.3278G>C (p.Arg1093Thr) c.3502G>C (n.3502G>C) c.3077G>C (p.Arg1026Thr) c.3344G>C (p.Arg1115Thr) c.2795G>C (p.Arg932Thr) c.2006G>C (p.Arg669Thr) c.3833G>C (p.Arg1278Thr) c.3260G>C (p.Arg1087Thr) c.3185G>C (p.Arg1062Thr) c.1862G>C (p.Arg621Thr) | |
| 3 | g.38872230C>T | CA352171322 | SCN11A | c.3458G>A (p.Arg1153Lys) c.3512G>A (n.3512G>A) c.3278G>A (p.Arg1093Lys) c.3502G>A (n.3502G>A) c.3077G>A (p.Arg1026Lys) c.3344G>A (p.Arg1115Lys) c.2795G>A (p.Arg932Lys) c.2006G>A (p.Arg669Lys) c.3833G>A (p.Arg1278Lys) c.3260G>A (p.Arg1087Lys) c.3185G>A (p.Arg1062Lys) c.1862G>A (p.Arg621Lys) | gnomAD v4 COSMIC |
| 3 | g.38872231T>A | CA352171323 | SCN11A | c.3457A>T (p.Arg1153Trp) c.3511A>T (n.3511A>T) c.3277A>T (p.Arg1093Trp) c.3501A>T (n.3501A>T) c.3076A>T (p.Arg1026Trp) c.3343A>T (p.Arg1115Trp) c.2794A>T (p.Arg932Trp) c.2005A>T (p.Arg669Trp) c.3832A>T (p.Arg1278Trp) c.3259A>T (p.Arg1087Trp) c.3184A>T (p.Arg1062Trp) c.1861A>T (p.Arg621Trp) | |
| 3 | g.38872231T>C | CA352171324 | SCN11A | c.3457A>G (p.Arg1153Gly) c.3511A>G (n.3511A>G) c.3277A>G (p.Arg1093Gly) c.3501A>G (n.3501A>G) c.3076A>G (p.Arg1026Gly) c.3343A>G (p.Arg1115Gly) c.2794A>G (p.Arg932Gly) c.2005A>G (p.Arg669Gly) c.3832A>G (p.Arg1278Gly) c.3259A>G (p.Arg1087Gly) c.3184A>G (p.Arg1062Gly) c.1861A>G (p.Arg621Gly) | ClinVar |
| 3 | g.38872231T>G | CA433142064 | SCN11A | c.3457A>C (p.Arg1153=) c.3511A>C (n.3511A>C) c.3277A>C (p.Arg1093=) c.3501A>C (n.3501A>C) c.3076A>C (p.Arg1026=) c.3343A>C (p.Arg1115=) c.2794A>C (p.Arg932=) c.2005A>C (p.Arg669=) c.3832A>C (p.Arg1278=) c.3259A>C (p.Arg1087=) c.3184A>C (p.Arg1062=) c.1861A>C (p.Arg621=) | |
| 3 | g.38872232C>A | CA433142065 | SCN11A | c.3456G>T (p.Leu1152=) c.3510G>T (n.3510G>T) c.3276G>T (p.Leu1092=) c.3500G>T (n.3500G>T) c.3075G>T (p.Leu1025=) c.3342G>T (p.Leu1114=) c.2793G>T (p.Leu931=) c.2004G>T (p.Leu668=) c.3831G>T (p.Leu1277=) c.3258G>T (p.Leu1086=) c.3183G>T (p.Leu1061=) c.1860G>T (p.Leu620=) | |
| 3 | g.38872232C>G | CA433142066 | SCN11A | c.3456G>C (p.Leu1152=) c.3510G>C (n.3510G>C) c.3276G>C (p.Leu1092=) c.3500G>C (n.3500G>C) c.3075G>C (p.Leu1025=) c.3342G>C (p.Leu1114=) c.2793G>C (p.Leu931=) c.2004G>C (p.Leu668=) c.3831G>C (p.Leu1277=) c.3258G>C (p.Leu1086=) c.3183G>C (p.Leu1061=) c.1860G>C (p.Leu620=) | |
| 3 | g.38872232C>T | CA433142067 | SCN11A | c.3456G>A (p.Leu1152=) c.3510G>A (n.3510G>A) c.3276G>A (p.Leu1092=) c.3500G>A (n.3500G>A) c.3075G>A (p.Leu1025=) c.3342G>A (p.Leu1114=) c.2793G>A (p.Leu931=) c.2004G>A (p.Leu668=) c.3831G>A (p.Leu1277=) c.3258G>A (p.Leu1086=) c.3183G>A (p.Leu1061=) c.1860G>A (p.Leu620=) | |
| 3 | g.38872233A>C | CA352171325 | SCN11A | c.3455T>G (p.Leu1152Arg) c.3509T>G (n.3509T>G) c.3275T>G (p.Leu1092Arg) c.3499T>G (n.3499T>G) c.3074T>G (p.Leu1025Arg) c.3341T>G (p.Leu1114Arg) c.2792T>G (p.Leu931Arg) c.2003T>G (p.Leu668Arg) c.3830T>G (p.Leu1277Arg) c.3257T>G (p.Leu1086Arg) c.3182T>G (p.Leu1061Arg) c.1859T>G (p.Leu620Arg) | |
| 3 | g.38872233A>G | CA352171326 | SCN11A | c.3455T>C (p.Leu1152Pro) c.3509T>C (n.3509T>C) c.3275T>C (p.Leu1092Pro) c.3499T>C (n.3499T>C) c.3074T>C (p.Leu1025Pro) c.3341T>C (p.Leu1114Pro) c.2792T>C (p.Leu931Pro) c.2003T>C (p.Leu668Pro) c.3830T>C (p.Leu1277Pro) c.3257T>C (p.Leu1086Pro) c.3182T>C (p.Leu1061Pro) c.1859T>C (p.Leu620Pro) | |
| 3 | g.38872233A>T | CA352171327 | SCN11A | c.3455T>A (p.Leu1152Gln) c.3509T>A (n.3509T>A) c.3275T>A (p.Leu1092Gln) c.3499T>A (n.3499T>A) c.3074T>A (p.Leu1025Gln) c.3341T>A (p.Leu1114Gln) c.2792T>A (p.Leu931Gln) c.2003T>A (p.Leu668Gln) c.3830T>A (p.Leu1277Gln) c.3257T>A (p.Leu1086Gln) c.3182T>A (p.Leu1061Gln) c.1859T>A (p.Leu620Gln) | |
| 3 | g.38872234G>A | CA433142068 | SCN11A | c.3454C>T (p.Leu1152=) c.3508C>T (n.3508C>T) c.3274C>T (p.Leu1092=) c.3498C>T (n.3498C>T) c.3073C>T (p.Leu1025=) c.3340C>T (p.Leu1114=) c.2791C>T (p.Leu931=) c.2002C>T (p.Leu668=) c.3829C>T (p.Leu1277=) c.3256C>T (p.Leu1086=) c.3181C>T (p.Leu1061=) c.1858C>T (p.Leu620=) | gnomAD v4 |
| 3 | g.38872234G>C | CA352171328 | SCN11A | c.3454C>G (p.Leu1152Val) c.3508C>G (n.3508C>G) c.3274C>G (p.Leu1092Val) c.3498C>G (n.3498C>G) c.3073C>G (p.Leu1025Val) c.3340C>G (p.Leu1114Val) c.2791C>G (p.Leu931Val) c.2002C>G (p.Leu668Val) c.3829C>G (p.Leu1277Val) c.3256C>G (p.Leu1086Val) c.3181C>G (p.Leu1061Val) c.1858C>G (p.Leu620Val) | |
| 3 | g.38872234G>T | CA352171329 | SCN11A | c.3454C>A (p.Leu1152Met) c.3508C>A (n.3508C>A) c.3274C>A (p.Leu1092Met) c.3498C>A (n.3498C>A) c.3073C>A (p.Leu1025Met) c.3340C>A (p.Leu1114Met) c.2791C>A (p.Leu931Met) c.2002C>A (p.Leu668Met) c.3829C>A (p.Leu1277Met) c.3256C>A (p.Leu1086Met) c.3181C>A (p.Leu1061Met) c.1858C>A (p.Leu620Met) | |
| 3 | g.38872235T>A | CA433142071 | SCN11A | c.3453A>T (p.Ala1151=) c.3507A>T (n.3507A>T) c.3273A>T (p.Ala1091=) c.3497A>T (n.3497A>T) c.3072A>T (p.Ala1024=) c.3339A>T (p.Ala1113=) c.2790A>T (p.Ala930=) c.2001A>T (p.Ala667=) c.3828A>T (p.Ala1276=) c.3255A>T (p.Ala1085=) c.3180A>T (p.Ala1060=) c.1857A>T (p.Ala619=) | |
| 3 | g.38872235T>C | CA433142070 | SCN11A | c.3453A>G (p.Ala1151=) c.3507A>G (n.3507A>G) c.3273A>G (p.Ala1091=) c.3497A>G (n.3497A>G) c.3072A>G (p.Ala1024=) c.3339A>G (p.Ala1113=) c.2790A>G (p.Ala930=) c.2001A>G (p.Ala667=) c.3828A>G (p.Ala1276=) c.3255A>G (p.Ala1085=) c.3180A>G (p.Ala1060=) c.1857A>G (p.Ala619=) | |
| 3 | g.38872235T>G | CA433142069 | SCN11A | c.3453A>C (p.Ala1151=) c.3507A>C (n.3507A>C) c.3273A>C (p.Ala1091=) c.3497A>C (n.3497A>C) c.3072A>C (p.Ala1024=) c.3339A>C (p.Ala1113=) c.2790A>C (p.Ala930=) c.2001A>C (p.Ala667=) c.3828A>C (p.Ala1276=) c.3255A>C (p.Ala1085=) c.3180A>C (p.Ala1060=) c.1857A>C (p.Ala619=) | |
| 3 | g.38872236G>A | CA2321783 | SCN11A | c.3452C>T (p.Ala1151Val) c.3506C>T (n.3506C>T) c.3272C>T (p.Ala1091Val) c.3496C>T (n.3496C>T) c.3071C>T (p.Ala1024Val) c.3338C>T (p.Ala1113Val) c.2789C>T (p.Ala930Val) c.2000C>T (p.Ala667Val) c.3827C>T (p.Ala1276Val) c.3254C>T (p.Ala1085Val) c.3179C>T (p.Ala1060Val) c.1856C>T (p.Ala619Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38872236G>C | CA352171330 | SCN11A | c.3452C>G (p.Ala1151Gly) c.3506C>G (n.3506C>G) c.3272C>G (p.Ala1091Gly) c.3496C>G (n.3496C>G) c.3071C>G (p.Ala1024Gly) c.3338C>G (p.Ala1113Gly) c.2789C>G (p.Ala930Gly) c.2000C>G (p.Ala667Gly) c.3827C>G (p.Ala1276Gly) c.3254C>G (p.Ala1085Gly) c.3179C>G (p.Ala1060Gly) c.1856C>G (p.Ala619Gly) | |
| 3 | g.38872236G= | CA1358707931 | SCN11A | c.3452C= (p.Ala1151=) c.3506C= (n.3506C=) c.3272C= (p.Ala1091=) c.3496C= (n.3496C=) c.3071C= (p.Ala1024=) c.3338C= (p.Ala1113=) c.2789C= (p.Ala930=) c.2000C= (p.Ala667=) c.3827C= (p.Ala1276=) c.3254C= (p.Ala1085=) c.3179C= (p.Ala1060=) c.1856C= (p.Ala619=) | |
| 3 | g.38872236G>T | CA352171331 | SCN11A | c.3452C>A (p.Ala1151Glu) c.3506C>A (n.3506C>A) c.3272C>A (p.Ala1091Glu) c.3496C>A (n.3496C>A) c.3071C>A (p.Ala1024Glu) c.3338C>A (p.Ala1113Glu) c.2789C>A (p.Ala930Glu) c.2000C>A (p.Ala667Glu) c.3827C>A (p.Ala1276Glu) c.3254C>A (p.Ala1085Glu) c.3179C>A (p.Ala1060Glu) c.1856C>A (p.Ala619Glu) | gnomAD v4 |
| 3 | g.38872237C>A | CA352171332 | SCN11A | c.3451G>T (p.Ala1151Ser) c.3505G>T (n.3505G>T) c.3271G>T (p.Ala1091Ser) c.3495G>T (n.3495G>T) c.3070G>T (p.Ala1024Ser) c.3337G>T (p.Ala1113Ser) c.2788G>T (p.Ala930Ser) c.1999G>T (p.Ala667Ser) c.3826G>T (p.Ala1276Ser) c.3253G>T (p.Ala1085Ser) c.3178G>T (p.Ala1060Ser) c.1855G>T (p.Ala619Ser) | |
| 3 | g.38872237C>G | CA352171333 | SCN11A | c.3451G>C (p.Ala1151Pro) c.3505G>C (n.3505G>C) c.3271G>C (p.Ala1091Pro) c.3495G>C (n.3495G>C) c.3070G>C (p.Ala1024Pro) c.3337G>C (p.Ala1113Pro) c.2788G>C (p.Ala930Pro) c.1999G>C (p.Ala667Pro) c.3826G>C (p.Ala1276Pro) c.3253G>C (p.Ala1085Pro) c.3178G>C (p.Ala1060Pro) c.1855G>C (p.Ala619Pro) | |
| 3 | g.38872237C>T | CA352171334 | SCN11A | c.3451G>A (p.Ala1151Thr) c.3505G>A (n.3505G>A) c.3271G>A (p.Ala1091Thr) c.3495G>A (n.3495G>A) c.3070G>A (p.Ala1024Thr) c.3337G>A (p.Ala1113Thr) c.2788G>A (p.Ala930Thr) c.1999G>A (p.Ala667Thr) c.3826G>A (p.Ala1276Thr) c.3253G>A (p.Ala1085Thr) c.3178G>A (p.Ala1060Thr) c.1855G>A (p.Ala619Thr) | |
| 3 | g.38872238T>A | CA433142075 | SCN11A | c.3450A>T (p.Arg1150=) c.3504A>T (n.3504A>T) c.3270A>T (p.Arg1090=) c.3494A>T (n.3494A>T) c.3069A>T (p.Arg1023=) c.3336A>T (p.Arg1112=) c.2787A>T (p.Arg929=) c.1998A>T (p.Arg666=) c.3825A>T (p.Arg1275=) c.3252A>T (p.Arg1084=) c.3177A>T (p.Arg1059=) c.1854A>T (p.Arg618=) | |
| 3 | g.38872238T>C | CA433142074 | SCN11A | c.3450A>G (p.Arg1150=) c.3504A>G (n.3504A>G) c.3270A>G (p.Arg1090=) c.3494A>G (n.3494A>G) c.3069A>G (p.Arg1023=) c.3336A>G (p.Arg1112=) c.2787A>G (p.Arg929=) c.1998A>G (p.Arg666=) c.3825A>G (p.Arg1275=) c.3252A>G (p.Arg1084=) c.3177A>G (p.Arg1059=) c.1854A>G (p.Arg618=) | |
| 3 | g.38872238T>G | CA433142073 | SCN11A | c.3450A>C (p.Arg1150=) c.3504A>C (n.3504A>C) c.3270A>C (p.Arg1090=) c.3494A>C (n.3494A>C) c.3069A>C (p.Arg1023=) c.3336A>C (p.Arg1112=) c.2787A>C (p.Arg929=) c.1998A>C (p.Arg666=) c.3825A>C (p.Arg1275=) c.3252A>C (p.Arg1084=) c.3177A>C (p.Arg1059=) c.1854A>C (p.Arg618=) | |
| 3 | g.38872239C>A | CA72980428 | SCN11A | c.3449G>T (p.Arg1150Leu) c.3503G>T (n.3503G>T) c.3269G>T (p.Arg1090Leu) c.3493G>T (n.3493G>T) c.3068G>T (p.Arg1023Leu) c.3335G>T (p.Arg1112Leu) c.2786G>T (p.Arg929Leu) c.1997G>T (p.Arg666Leu) c.3824G>T (p.Arg1275Leu) c.3251G>T (p.Arg1084Leu) c.3176G>T (p.Arg1059Leu) c.1853G>T (p.Arg618Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |