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.38894952_38894954del | CA2322037 | SCN11A | c.2416_2418del (p.Phe806del) c.2236_2238del (p.Phe746del) c.2460_2462del (n.2460_2462del) c.2035_2037del (p.Phe679del) c.1753_1755del (p.Phe585del) c.964_966del (p.Phe322del) c.2791_2793del (p.Phe931del) c.2218_2220del (p.Phe740del) c.2143_2145del (p.Phe715del) c.820_822del (p.Phe274del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38894954A>C | CA352175196 | SCN11A | c.2414T>G (p.Leu805Arg) c.2234T>G (p.Leu745Arg) c.2458T>G (n.2458T>G) c.2033T>G (p.Leu678Arg) c.1751T>G (p.Leu584Arg) c.962T>G (p.Leu321Arg) c.2789T>G (p.Leu930Arg) c.2216T>G (p.Leu739Arg) c.2141T>G (p.Leu714Arg) c.818T>G (p.Leu273Arg) | |
| 3 | g.38894954A>G | CA352175197 | SCN11A | c.2414T>C (p.Leu805Pro) c.2234T>C (p.Leu745Pro) c.2458T>C (n.2458T>C) c.2033T>C (p.Leu678Pro) c.1751T>C (p.Leu584Pro) c.962T>C (p.Leu321Pro) c.2789T>C (p.Leu930Pro) c.2216T>C (p.Leu739Pro) c.2141T>C (p.Leu714Pro) c.818T>C (p.Leu273Pro) | |
| 3 | g.38894954A>T | CA352175198 | SCN11A | c.2414T>A (p.Leu805His) c.2234T>A (p.Leu745His) c.2458T>A (n.2458T>A) c.2033T>A (p.Leu678His) c.1751T>A (p.Leu584His) c.962T>A (p.Leu321His) c.2789T>A (p.Leu930His) c.2216T>A (p.Leu739His) c.2141T>A (p.Leu714His) c.818T>A (p.Leu273His) | |
| 3 | g.38894955G>A | CA2322038 | SCN11A | c.2413C>T (p.Leu805Phe) c.2233C>T (p.Leu745Phe) c.2457C>T (n.2457C>T) c.2032C>T (p.Leu678Phe) c.1750C>T (p.Leu584Phe) c.961C>T (p.Leu321Phe) c.2788C>T (p.Leu930Phe) c.2215C>T (p.Leu739Phe) c.2140C>T (p.Leu714Phe) c.817C>T (p.Leu273Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38894955G>C | CA352175200 | SCN11A | c.2413C>G (p.Leu805Val) c.2233C>G (p.Leu745Val) c.2457C>G (n.2457C>G) c.2032C>G (p.Leu678Val) c.1750C>G (p.Leu584Val) c.961C>G (p.Leu321Val) c.2788C>G (p.Leu930Val) c.2215C>G (p.Leu739Val) c.2140C>G (p.Leu714Val) c.817C>G (p.Leu273Val) | gnomAD v4 |
| 3 | g.38894955G= | CA1358718307 | SCN11A | c.2413C= (p.Leu805=) c.2233C= (p.Leu745=) c.2457C= (n.2457C=) c.2032C= (p.Leu678=) c.1750C= (p.Leu584=) c.961C= (p.Leu321=) c.2788C= (p.Leu930=) c.2215C= (p.Leu739=) c.2140C= (p.Leu714=) c.817C= (p.Leu273=) | |
| 3 | g.38894955G>T | CA352175199 | SCN11A | c.2413C>A (p.Leu805Ile) c.2233C>A (p.Leu745Ile) c.2457C>A (n.2457C>A) c.2032C>A (p.Leu678Ile) c.1750C>A (p.Leu584Ile) c.961C>A (p.Leu321Ile) c.2788C>A (p.Leu930Ile) c.2215C>A (p.Leu739Ile) c.2140C>A (p.Leu714Ile) c.817C>A (p.Leu273Ile) | |
| 3 | g.38894956G>A | CA2322039 | SCN11A | c.2412C>T (p.Asn804=) c.2232C>T (p.Asn744=) c.2456C>T (n.2456C>T) c.2031C>T (p.Asn677=) c.1749C>T (p.Asn583=) c.960C>T (p.Asn320=) c.2787C>T (p.Asn929=) c.2214C>T (p.Asn738=) c.2139C>T (p.Asn713=) c.816C>T (p.Asn272=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38894956G>C | CA352175201 | SCN11A | c.2412C>G (p.Asn804Lys) c.2232C>G (p.Asn744Lys) c.2456C>G (n.2456C>G) c.2031C>G (p.Asn677Lys) c.1749C>G (p.Asn583Lys) c.960C>G (p.Asn320Lys) c.2787C>G (p.Asn929Lys) c.2214C>G (p.Asn738Lys) c.2139C>G (p.Asn713Lys) c.816C>G (p.Asn272Lys) | |
| 3 | g.38894956G= | CA1358718308 | SCN11A | c.2412C= (p.Asn804=) c.2232C= (p.Asn744=) c.2456C= (n.2456C=) c.2031C= (p.Asn677=) c.1749C= (p.Asn583=) c.960C= (p.Asn320=) c.2787C= (p.Asn929=) c.2214C= (p.Asn738=) c.2139C= (p.Asn713=) c.816C= (p.Asn272=) | |
| 3 | g.38894956G>T | CA352175202 | SCN11A | c.2412C>A (p.Asn804Lys) c.2232C>A (p.Asn744Lys) c.2456C>A (n.2456C>A) c.2031C>A (p.Asn677Lys) c.1749C>A (p.Asn583Lys) c.960C>A (p.Asn320Lys) c.2787C>A (p.Asn929Lys) c.2214C>A (p.Asn738Lys) c.2139C>A (p.Asn713Lys) c.816C>A (p.Asn272Lys) | |
| 3 | g.38894957T>A | CA352175203 | SCN11A | c.2411A>T (p.Asn804Ile) c.2231A>T (p.Asn744Ile) c.2455A>T (n.2455A>T) c.2030A>T (p.Asn677Ile) c.1748A>T (p.Asn583Ile) c.959A>T (p.Asn320Ile) c.2786A>T (p.Asn929Ile) c.2213A>T (p.Asn738Ile) c.2138A>T (p.Asn713Ile) c.815A>T (p.Asn272Ile) | dbSNP |
| 3 | g.38894957T>C | CA352175204 | SCN11A | c.2411A>G (p.Asn804Ser) c.2231A>G (p.Asn744Ser) c.2455A>G (n.2455A>G) c.2030A>G (p.Asn677Ser) c.1748A>G (p.Asn583Ser) c.959A>G (p.Asn320Ser) c.2786A>G (p.Asn929Ser) c.2213A>G (p.Asn738Ser) c.2138A>G (p.Asn713Ser) c.815A>G (p.Asn272Ser) | COSMIC |
| 3 | g.38894957T>G | CA352175205 | SCN11A | c.2411A>C (p.Asn804Thr) c.2231A>C (p.Asn744Thr) c.2455A>C (n.2455A>C) c.2030A>C (p.Asn677Thr) c.1748A>C (p.Asn583Thr) c.959A>C (p.Asn320Thr) c.2786A>C (p.Asn929Thr) c.2213A>C (p.Asn738Thr) c.2138A>C (p.Asn713Thr) c.815A>C (p.Asn272Thr) | |
| 3 | g.38894957T= | CA1358718309 | SCN11A | c.2411A= (p.Asn804=) c.2231A= (p.Asn744=) c.2455A= (n.2455A=) c.2030A= (p.Asn677=) c.1748A= (p.Asn583=) c.959A= (p.Asn320=) c.2786A= (p.Asn929=) c.2213A= (p.Asn738=) c.2138A= (p.Asn713=) c.815A= (p.Asn272=) | |
| 3 | g.38894958T>A | CA352175206 | SCN11A | c.2410A>T (p.Asn804Tyr) c.2230A>T (p.Asn744Tyr) c.2454A>T (n.2454A>T) c.2029A>T (p.Asn677Tyr) c.1747A>T (p.Asn583Tyr) c.958A>T (p.Asn320Tyr) c.2785A>T (p.Asn929Tyr) c.2212A>T (p.Asn738Tyr) c.2137A>T (p.Asn713Tyr) c.814A>T (p.Asn272Tyr) | |
| 3 | g.38894958T>C | CA352175208 | SCN11A | c.2410A>G (p.Asn804Asp) c.2230A>G (p.Asn744Asp) c.2454A>G (n.2454A>G) c.2029A>G (p.Asn677Asp) c.1747A>G (p.Asn583Asp) c.958A>G (p.Asn320Asp) c.2785A>G (p.Asn929Asp) c.2212A>G (p.Asn738Asp) c.2137A>G (p.Asn713Asp) c.814A>G (p.Asn272Asp) | |
| 3 | g.38894958T>G | CA352175207 | SCN11A | c.2410A>C (p.Asn804His) c.2230A>C (p.Asn744His) c.2454A>C (n.2454A>C) c.2029A>C (p.Asn677His) c.1747A>C (p.Asn583His) c.958A>C (p.Asn320His) c.2785A>C (p.Asn929His) c.2212A>C (p.Asn738His) c.2137A>C (p.Asn713His) c.814A>C (p.Asn272His) | |
| 3 | g.38894959G>A | CA433336251 | SCN11A | c.2409C>T (p.Leu803=) c.2229C>T (p.Leu743=) c.2453C>T (n.2453C>T) c.2028C>T (p.Leu676=) c.1746C>T (p.Leu582=) c.957C>T (p.Leu319=) c.2784C>T (p.Leu928=) c.2211C>T (p.Leu737=) c.2136C>T (p.Leu712=) c.813C>T (p.Leu271=) | |
| 3 | g.38894959G>C | CA433336253 | SCN11A | c.2409C>G (p.Leu803=) c.2229C>G (p.Leu743=) c.2453C>G (n.2453C>G) c.2028C>G (p.Leu676=) c.1746C>G (p.Leu582=) c.957C>G (p.Leu319=) c.2784C>G (p.Leu928=) c.2211C>G (p.Leu737=) c.2136C>G (p.Leu712=) c.813C>G (p.Leu271=) | |
| 3 | g.38894959G= | CA1358718310 | SCN11A | c.2409C= (p.Leu803=) c.2229C= (p.Leu743=) c.2453C= (n.2453C=) c.2028C= (p.Leu676=) c.1746C= (p.Leu582=) c.957C= (p.Leu319=) c.2784C= (p.Leu928=) c.2211C= (p.Leu737=) c.2136C= (p.Leu712=) c.813C= (p.Leu271=) | |
| 3 | g.38894959G>T | CA433336252 | SCN11A | c.2409C>A (p.Leu803=) c.2229C>A (p.Leu743=) c.2453C>A (n.2453C>A) c.2028C>A (p.Leu676=) c.1746C>A (p.Leu582=) c.957C>A (p.Leu319=) c.2784C>A (p.Leu928=) c.2211C>A (p.Leu737=) c.2136C>A (p.Leu712=) c.813C>A (p.Leu271=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38894960A>C | CA352175209 | SCN11A | c.2408T>G (p.Leu803Arg) c.2228T>G (p.Leu743Arg) c.2452T>G (n.2452T>G) c.2027T>G (p.Leu676Arg) c.1745T>G (p.Leu582Arg) c.956T>G (p.Leu319Arg) c.2783T>G (p.Leu928Arg) c.2210T>G (p.Leu737Arg) c.2135T>G (p.Leu712Arg) c.812T>G (p.Leu271Arg) | |
| 3 | g.38894960A>G | CA352175210 | SCN11A | c.2408T>C (p.Leu803Pro) c.2228T>C (p.Leu743Pro) c.2452T>C (n.2452T>C) c.2027T>C (p.Leu676Pro) c.1745T>C (p.Leu582Pro) c.956T>C (p.Leu319Pro) c.2783T>C (p.Leu928Pro) c.2210T>C (p.Leu737Pro) c.2135T>C (p.Leu712Pro) c.812T>C (p.Leu271Pro) | |
| 3 | g.38894960A>T | CA352175211 | SCN11A | c.2408T>A (p.Leu803His) c.2228T>A (p.Leu743His) c.2452T>A (n.2452T>A) c.2027T>A (p.Leu676His) c.1745T>A (p.Leu582His) c.956T>A (p.Leu319His) c.2783T>A (p.Leu928His) c.2210T>A (p.Leu737His) c.2135T>A (p.Leu712His) c.812T>A (p.Leu271His) | |
| 3 | g.38894961G>A | CA2322040 | SCN11A | c.2407C>T (p.Leu803Phe) c.2227C>T (p.Leu743Phe) c.2451C>T (n.2451C>T) c.2026C>T (p.Leu676Phe) c.1744C>T (p.Leu582Phe) c.955C>T (p.Leu319Phe) c.2782C>T (p.Leu928Phe) c.2209C>T (p.Leu737Phe) c.2134C>T (p.Leu712Phe) c.811C>T (p.Leu271Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38894961G>C | CA352175212 | SCN11A | c.2407C>G (p.Leu803Val) c.2227C>G (p.Leu743Val) c.2451C>G (n.2451C>G) c.2026C>G (p.Leu676Val) c.1744C>G (p.Leu582Val) c.955C>G (p.Leu319Val) c.2782C>G (p.Leu928Val) c.2209C>G (p.Leu737Val) c.2134C>G (p.Leu712Val) c.811C>G (p.Leu271Val) | |
| 3 | g.38894961G= | CA1358718311 | SCN11A | c.2407C= (p.Leu803=) c.2227C= (p.Leu743=) c.2451C= (n.2451C=) c.2026C= (p.Leu676=) c.1744C= (p.Leu582=) c.955C= (p.Leu319=) c.2782C= (p.Leu928=) c.2209C= (p.Leu737=) c.2134C= (p.Leu712=) c.811C= (p.Leu271=) | |
| 3 | g.38894961G>T | CA352175213 | SCN11A | c.2407C>A (p.Leu803Ile) c.2227C>A (p.Leu743Ile) c.2451C>A (n.2451C>A) c.2026C>A (p.Leu676Ile) c.1744C>A (p.Leu582Ile) c.955C>A (p.Leu319Ile) c.2782C>A (p.Leu928Ile) c.2209C>A (p.Leu737Ile) c.2134C>A (p.Leu712Ile) c.811C>A (p.Leu271Ile) | |
| 3 | g.38894962C>A | CA433336254 | SCN11A | c.2406G>T (p.Val802=) c.2226G>T (p.Val742=) c.2450G>T (n.2450G>T) c.2025G>T (p.Val675=) c.1743G>T (p.Val581=) c.954G>T (p.Val318=) c.2781G>T (p.Val927=) c.2208G>T (p.Val736=) c.2133G>T (p.Val711=) c.810G>T (p.Val270=) | |
| 3 | g.38894962C>G | CA433336255 | SCN11A | c.2406G>C (p.Val802=) c.2226G>C (p.Val742=) c.2450G>C (n.2450G>C) c.2025G>C (p.Val675=) c.1743G>C (p.Val581=) c.954G>C (p.Val318=) c.2781G>C (p.Val927=) c.2208G>C (p.Val736=) c.2133G>C (p.Val711=) c.810G>C (p.Val270=) | |
| 3 | g.38894962C>T | CA433336256 | SCN11A | c.2406G>A (p.Val802=) c.2226G>A (p.Val742=) c.2450G>A (n.2450G>A) c.2025G>A (p.Val675=) c.1743G>A (p.Val581=) c.954G>A (p.Val318=) c.2781G>A (p.Val927=) c.2208G>A (p.Val736=) c.2133G>A (p.Val711=) c.810G>A (p.Val270=) | |
| 3 | g.38894963A>C | CA352175214 | SCN11A | c.2405T>G (p.Val802Gly) c.2225T>G (p.Val742Gly) c.2449T>G (n.2449T>G) c.2024T>G (p.Val675Gly) c.1742T>G (p.Val581Gly) c.953T>G (p.Val318Gly) c.2780T>G (p.Val927Gly) c.2207T>G (p.Val736Gly) c.2132T>G (p.Val711Gly) c.809T>G (p.Val270Gly) | |
| 3 | g.38894963A>G | CA352175215 | SCN11A | c.2405T>C (p.Val802Ala) c.2225T>C (p.Val742Ala) c.2449T>C (n.2449T>C) c.2024T>C (p.Val675Ala) c.1742T>C (p.Val581Ala) c.953T>C (p.Val318Ala) c.2780T>C (p.Val927Ala) c.2207T>C (p.Val736Ala) c.2132T>C (p.Val711Ala) c.809T>C (p.Val270Ala) | |
| 3 | g.38894963A>T | CA352175216 | SCN11A | c.2405T>A (p.Val802Glu) c.2225T>A (p.Val742Glu) c.2449T>A (n.2449T>A) c.2024T>A (p.Val675Glu) c.1742T>A (p.Val581Glu) c.953T>A (p.Val318Glu) c.2780T>A (p.Val927Glu) c.2207T>A (p.Val736Glu) c.2132T>A (p.Val711Glu) c.809T>A (p.Val270Glu) | |
| 3 | g.38894964C>A | CA352175217 | SCN11A | c.2404G>T (p.Val802Leu) c.2224G>T (p.Val742Leu) c.2448G>T (n.2448G>T) c.2023G>T (p.Val675Leu) c.1741G>T (p.Val581Leu) c.952G>T (p.Val318Leu) c.2779G>T (p.Val927Leu) c.2206G>T (p.Val736Leu) c.2131G>T (p.Val711Leu) c.808G>T (p.Val270Leu) | |
| 3 | g.38894964C>G | CA352175218 | SCN11A | c.2404G>C (p.Val802Leu) c.2224G>C (p.Val742Leu) c.2448G>C (n.2448G>C) c.2023G>C (p.Val675Leu) c.1741G>C (p.Val581Leu) c.952G>C (p.Val318Leu) c.2779G>C (p.Val927Leu) c.2206G>C (p.Val736Leu) c.2131G>C (p.Val711Leu) c.808G>C (p.Val270Leu) | |
| 3 | g.38894964C>T | CA352175219 | SCN11A | c.2404G>A (p.Val802Met) c.2224G>A (p.Val742Met) c.2448G>A (n.2448G>A) c.2023G>A (p.Val675Met) c.1741G>A (p.Val581Met) c.952G>A (p.Val318Met) c.2779G>A (p.Val927Met) c.2206G>A (p.Val736Met) c.2131G>A (p.Val711Met) c.808G>A (p.Val270Met) | |
| 3 | g.38894965C>A | CA352175220 | SCN11A | c.2404-1G>T (n.2404-1G>T) c.2224-1G>T (n.2224-1G>T) c.2448-1G>T (n.2448-1G>T) c.2023-1G>T (n.2023-1G>T) c.1741-1G>T (n.1741-1G>T) c.952-1G>T (n.952-1G>T) c.2779-1G>T (n.2779-1G>T) c.2206-1G>T (n.2206-1G>T) c.2131-1G>T (n.2131-1G>T) c.808-1G>T (n.808-1G>T) | |
| 3 | g.38894965C>G | CA352175222 | SCN11A | c.2404-1G>C (n.2404-1G>C) c.2224-1G>C (n.2224-1G>C) c.2448-1G>C (n.2448-1G>C) c.2023-1G>C (n.2023-1G>C) c.1741-1G>C (n.1741-1G>C) c.952-1G>C (n.952-1G>C) c.2779-1G>C (n.2779-1G>C) c.2206-1G>C (n.2206-1G>C) c.2131-1G>C (n.2131-1G>C) c.808-1G>C (n.808-1G>C) | |
| 3 | g.38894965C>T | CA352175221 | SCN11A | c.2404-1G>A (n.2404-1G>A) c.2224-1G>A (n.2224-1G>A) c.2448-1G>A (n.2448-1G>A) c.2023-1G>A (n.2023-1G>A) c.1741-1G>A (n.1741-1G>A) c.952-1G>A (n.952-1G>A) c.2779-1G>A (n.2779-1G>A) c.2206-1G>A (n.2206-1G>A) c.2131-1G>A (n.2131-1G>A) c.808-1G>A (n.808-1G>A) | |
| 3 | g.38894965_38894966delinsCT | CA1358718312 | SCN11A | c.2404-2_2404-1delinsAG (n.2404-2_2404-1delinsAG) c.2224-2_2224-1delinsAG (n.2224-2_2224-1delinsAG) c.2448-2_2448-1delinsAG (n.2448-2_2448-1delinsAG) c.2023-2_2023-1delinsAG (n.2023-2_2023-1delinsAG) c.1741-2_1741-1delinsAG (n.1741-2_1741-1delinsAG) c.952-2_952-1delinsAG (n.952-2_952-1delinsAG) c.2779-2_2779-1delinsAG (n.2779-2_2779-1delinsAG) c.2206-2_2206-1delinsAG (n.2206-2_2206-1delinsAG) c.2131-2_2131-1delinsAG (n.2131-2_2131-1delinsAG) c.808-2_808-1delinsAG (n.808-2_808-1delinsAG) | |
| 3 | g.38894966del | CA542615998 | SCN11A | c.2404-2del (n.2404-2del) c.2224-2del (n.2224-2del) c.2448-2del (n.2448-2del) c.2023-2del (n.2023-2del) c.1741-2del (n.1741-2del) c.952-2del (n.952-2del) c.2779-2del (n.2779-2del) c.2206-2del (n.2206-2del) c.2131-2del (n.2131-2del) c.808-2del (n.808-2del) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38894966T>A | CA352175223 | SCN11A | c.2404-2A>T (n.2404-2A>T) c.2224-2A>T (n.2224-2A>T) c.2448-2A>T (n.2448-2A>T) c.2023-2A>T (n.2023-2A>T) c.1741-2A>T (n.1741-2A>T) c.952-2A>T (n.952-2A>T) c.2779-2A>T (n.2779-2A>T) c.2206-2A>T (n.2206-2A>T) c.2131-2A>T (n.2131-2A>T) c.808-2A>T (n.808-2A>T) | |
| 3 | g.38894966T>C | CA2322041 | SCN11A | c.2404-2A>G (n.2404-2A>G) c.2224-2A>G (n.2224-2A>G) c.2448-2A>G (n.2448-2A>G) c.2023-2A>G (n.2023-2A>G) c.1741-2A>G (n.1741-2A>G) c.952-2A>G (n.952-2A>G) c.2779-2A>G (n.2779-2A>G) c.2206-2A>G (n.2206-2A>G) c.2131-2A>G (n.2131-2A>G) c.808-2A>G (n.808-2A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38894966T>G | CA352175224 | SCN11A | c.2404-2A>C (n.2404-2A>C) c.2224-2A>C (n.2224-2A>C) c.2448-2A>C (n.2448-2A>C) c.2023-2A>C (n.2023-2A>C) c.1741-2A>C (n.1741-2A>C) c.952-2A>C (n.952-2A>C) c.2779-2A>C (n.2779-2A>C) c.2206-2A>C (n.2206-2A>C) c.2131-2A>C (n.2131-2A>C) c.808-2A>C (n.808-2A>C) | |
| 3 | g.38894966T= | CA1358718313 | SCN11A | c.2404-2A= (n.2404-2A=) c.2224-2A= (n.2224-2A=) c.2448-2A= (n.2448-2A=) c.2023-2A= (n.2023-2A=) c.1741-2A= (n.1741-2A=) c.952-2A= (n.952-2A=) c.2779-2A= (n.2779-2A=) c.2206-2A= (n.2206-2A=) c.2131-2A= (n.2131-2A=) c.808-2A= (n.808-2A=) | |
| 3 | g.38894968G= | CA1358718314 | SCN11A | c.2404-4C= (n.2404-4C=) c.2224-4C= (n.2224-4C=) c.2448-4C= (n.2448-4C=) c.2023-4C= (n.2023-4C=) c.1741-4C= (n.1741-4C=) c.952-4C= (n.952-4C=) c.2779-4C= (n.2779-4C=) c.2206-4C= (n.2206-4C=) c.2131-4C= (n.2131-4C=) c.808-4C= (n.808-4C=) | |
| 3 | g.38894968G>T | CA2322042 | SCN11A | c.2404-4C>A (n.2404-4C>A) c.2224-4C>A (n.2224-4C>A) c.2448-4C>A (n.2448-4C>A) c.2023-4C>A (n.2023-4C>A) c.1741-4C>A (n.1741-4C>A) c.952-4C>A (n.952-4C>A) c.2779-4C>A (n.2779-4C>A) c.2206-4C>A (n.2206-4C>A) c.2131-4C>A (n.2131-4C>A) c.808-4C>A (n.808-4C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |