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 |
|---|---|---|---|---|---|
| 13 | g.101095560dup | CA2623579072 | NALCN | c.3269+20dup (n.3269+20dup) c.2990+20dup (n.2990+20dup) c.3356+20dup (n.3356+20dup) c.3182+20dup (n.3182+20dup) c.3326+20dup (n.3326+20dup) c.3239+20dup (n.3239+20dup) c.3047+20dup (n.3047+20dup) c.2822+20dup (n.2822+20dup) c.2504+20dup (n.2504+20dup) c.3413+20dup (n.3413+20dup) | gnomAD v4 |
| 13 | g.101095560del | CA7035453 | NALCN | c.3269+20del (n.3269+20del) c.2990+20del (n.2990+20del) c.3356+20del (n.3356+20del) c.3182+20del (n.3182+20del) c.3326+20del (n.3326+20del) c.3239+20del (n.3239+20del) c.3047+20del (n.3047+20del) c.2822+20del (n.2822+20del) c.2504+20del (n.2504+20del) c.3413+20del (n.3413+20del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.101095560T>A | CA7035454 | NALCN | c.3269+14A>T (n.3269+14A>T) c.2990+14A>T (n.2990+14A>T) c.3356+14A>T (n.3356+14A>T) c.3182+14A>T (n.3182+14A>T) c.3326+14A>T (n.3326+14A>T) c.3239+14A>T (n.3239+14A>T) c.3047+14A>T (n.3047+14A>T) c.2822+14A>T (n.2822+14A>T) c.2504+14A>T (n.2504+14A>T) c.3413+14A>T (n.3413+14A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101095560T>C | CA2623579074 | NALCN | c.3269+14A>G (n.3269+14A>G) c.2990+14A>G (n.2990+14A>G) c.3356+14A>G (n.3356+14A>G) c.3182+14A>G (n.3182+14A>G) c.3326+14A>G (n.3326+14A>G) c.3239+14A>G (n.3239+14A>G) c.3047+14A>G (n.3047+14A>G) c.2822+14A>G (n.2822+14A>G) c.2504+14A>G (n.2504+14A>G) c.3413+14A>G (n.3413+14A>G) | ClinVar gnomAD v4 |
| 13 | g.101095560T= | CA2114394789 | NALCN | c.3269+14A= (n.3269+14A=) c.2990+14A= (n.2990+14A=) c.3356+14A= (n.3356+14A=) c.3182+14A= (n.3182+14A=) c.3326+14A= (n.3326+14A=) c.3239+14A= (n.3239+14A=) c.3047+14A= (n.3047+14A=) c.2822+14A= (n.2822+14A=) c.2504+14A= (n.2504+14A=) c.3413+14A= (n.3413+14A=) | |
| 13 | g.101095561A>T | CA2623579075 | NALCN | c.3269+13T>A (n.3269+13T>A) c.2990+13T>A (n.2990+13T>A) c.3356+13T>A (n.3356+13T>A) c.3182+13T>A (n.3182+13T>A) c.3326+13T>A (n.3326+13T>A) c.3239+13T>A (n.3239+13T>A) c.3047+13T>A (n.3047+13T>A) c.2822+13T>A (n.2822+13T>A) c.2504+13T>A (n.2504+13T>A) c.3413+13T>A (n.3413+13T>A) | gnomAD v4 |
| 13 | g.101095563del | CA2623579076 | NALCN | c.3269+11del (n.3269+11del) c.2990+11del (n.2990+11del) c.3356+11del (n.3356+11del) c.3182+11del (n.3182+11del) c.3326+11del (n.3326+11del) c.3239+11del (n.3239+11del) c.3047+11del (n.3047+11del) c.2822+11del (n.2822+11del) c.2504+11del (n.2504+11del) c.3413+11del (n.3413+11del) | gnomAD v4 |
| 13 | g.101095563G>A | CA2623579077 | NALCN | c.3269+11C>T (n.3269+11C>T) c.2990+11C>T (n.2990+11C>T) c.3356+11C>T (n.3356+11C>T) c.3182+11C>T (n.3182+11C>T) c.3326+11C>T (n.3326+11C>T) c.3239+11C>T (n.3239+11C>T) c.3047+11C>T (n.3047+11C>T) c.2822+11C>T (n.2822+11C>T) c.2504+11C>T (n.2504+11C>T) c.3413+11C>T (n.3413+11C>T) | gnomAD v4 |
| 13 | g.101095563G>T | CA2623579078 | NALCN | c.3269+11C>A (n.3269+11C>A) c.2990+11C>A (n.2990+11C>A) c.3356+11C>A (n.3356+11C>A) c.3182+11C>A (n.3182+11C>A) c.3326+11C>A (n.3326+11C>A) c.3239+11C>A (n.3239+11C>A) c.3047+11C>A (n.3047+11C>A) c.2822+11C>A (n.2822+11C>A) c.2504+11C>A (n.2504+11C>A) c.3413+11C>A (n.3413+11C>A) | gnomAD v4 |
| 13 | g.101095564A>T | CA2623579079 | NALCN | c.3269+10T>A (n.3269+10T>A) c.2990+10T>A (n.2990+10T>A) c.3356+10T>A (n.3356+10T>A) c.3182+10T>A (n.3182+10T>A) c.3326+10T>A (n.3326+10T>A) c.3239+10T>A (n.3239+10T>A) c.3047+10T>A (n.3047+10T>A) c.2822+10T>A (n.2822+10T>A) c.2504+10T>A (n.2504+10T>A) c.3413+10T>A (n.3413+10T>A) | gnomAD v4 |
| 13 | g.101095565T>C | CA2575448288 | NALCN | c.3269+9A>G (n.3269+9A>G) c.2990+9A>G (n.2990+9A>G) c.3356+9A>G (n.3356+9A>G) c.3182+9A>G (n.3182+9A>G) c.3326+9A>G (n.3326+9A>G) c.3239+9A>G (n.3239+9A>G) c.3047+9A>G (n.3047+9A>G) c.2822+9A>G (n.2822+9A>G) c.2504+9A>G (n.2504+9A>G) c.3413+9A>G (n.3413+9A>G) | gnomAD v4 |
| 13 | g.101095566A>T | CA2623579080 | NALCN | c.3269+8T>A (n.3269+8T>A) c.2990+8T>A (n.2990+8T>A) c.3356+8T>A (n.3356+8T>A) c.3182+8T>A (n.3182+8T>A) c.3326+8T>A (n.3326+8T>A) c.3239+8T>A (n.3239+8T>A) c.3047+8T>A (n.3047+8T>A) c.2822+8T>A (n.2822+8T>A) c.2504+8T>A (n.2504+8T>A) c.3413+8T>A (n.3413+8T>A) | gnomAD v4 |
| 13 | g.101095567T>C | CA611948465 | NALCN | c.3269+7A>G (n.3269+7A>G) c.2990+7A>G (n.2990+7A>G) c.3356+7A>G (n.3356+7A>G) c.3182+7A>G (n.3182+7A>G) c.3326+7A>G (n.3326+7A>G) c.3239+7A>G (n.3239+7A>G) c.3047+7A>G (n.3047+7A>G) c.2822+7A>G (n.2822+7A>G) c.2504+7A>G (n.2504+7A>G) c.3413+7A>G (n.3413+7A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.101095567T= | CA2114394790 | NALCN | c.3269+7A= (n.3269+7A=) c.2990+7A= (n.2990+7A=) c.3356+7A= (n.3356+7A=) c.3182+7A= (n.3182+7A=) c.3326+7A= (n.3326+7A=) c.3239+7A= (n.3239+7A=) c.3047+7A= (n.3047+7A=) c.2822+7A= (n.2822+7A=) c.2504+7A= (n.2504+7A=) c.3413+7A= (n.3413+7A=) | |
| 13 | g.101095569C>A | CA611948466 | NALCN | c.3269+5G>T (n.3269+5G>T) c.2990+5G>T (n.2990+5G>T) c.3356+5G>T (n.3356+5G>T) c.3182+5G>T (n.3182+5G>T) c.3326+5G>T (n.3326+5G>T) c.3239+5G>T (n.3239+5G>T) c.3047+5G>T (n.3047+5G>T) c.2822+5G>T (n.2822+5G>T) c.2504+5G>T (n.2504+5G>T) c.3413+5G>T (n.3413+5G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.101095569C= | CA2114394791 | NALCN | c.3269+5G= (n.3269+5G=) c.2990+5G= (n.2990+5G=) c.3356+5G= (n.3356+5G=) c.3182+5G= (n.3182+5G=) c.3326+5G= (n.3326+5G=) c.3239+5G= (n.3239+5G=) c.3047+5G= (n.3047+5G=) c.2822+5G= (n.2822+5G=) c.2504+5G= (n.2504+5G=) c.3413+5G= (n.3413+5G=) | |
| 13 | g.101095569C>T | CA2623579081 | NALCN | c.3269+5G>A (n.3269+5G>A) c.2990+5G>A (n.2990+5G>A) c.3356+5G>A (n.3356+5G>A) c.3182+5G>A (n.3182+5G>A) c.3326+5G>A (n.3326+5G>A) c.3239+5G>A (n.3239+5G>A) c.3047+5G>A (n.3047+5G>A) c.2822+5G>A (n.2822+5G>A) c.2504+5G>A (n.2504+5G>A) c.3413+5G>A (n.3413+5G>A) | gnomAD v4 |
| 13 | g.101095570T>C | CA2623579082 | NALCN | c.3269+4A>G (n.3269+4A>G) c.2990+4A>G (n.2990+4A>G) c.3356+4A>G (n.3356+4A>G) c.3182+4A>G (n.3182+4A>G) c.3326+4A>G (n.3326+4A>G) c.3239+4A>G (n.3239+4A>G) c.3047+4A>G (n.3047+4A>G) c.2822+4A>G (n.2822+4A>G) c.2504+4A>G (n.2504+4A>G) c.3413+4A>G (n.3413+4A>G) | gnomAD v4 |
| 13 | g.101095571T>C | CA7035455 | NALCN | c.3269+3A>G (n.3269+3A>G) c.2990+3A>G (n.2990+3A>G) c.3356+3A>G (n.3356+3A>G) c.3182+3A>G (n.3182+3A>G) c.3326+3A>G (n.3326+3A>G) c.3239+3A>G (n.3239+3A>G) c.3047+3A>G (n.3047+3A>G) c.2822+3A>G (n.2822+3A>G) c.2504+3A>G (n.2504+3A>G) c.3413+3A>G (n.3413+3A>G) | dbSNP ExAC gnomAD v2 |
| 13 | g.101095571T= | CA2114394792 | NALCN | c.3269+3A= (n.3269+3A=) c.2990+3A= (n.2990+3A=) c.3356+3A= (n.3356+3A=) c.3182+3A= (n.3182+3A=) c.3326+3A= (n.3326+3A=) c.3239+3A= (n.3239+3A=) c.3047+3A= (n.3047+3A=) c.2822+3A= (n.2822+3A=) c.2504+3A= (n.2504+3A=) c.3413+3A= (n.3413+3A=) | |
| 13 | g.101095572A>C | CA388653325 | NALCN | c.3269+2T>G (n.3269+2T>G) c.2990+2T>G (n.2990+2T>G) c.3356+2T>G (n.3356+2T>G) c.3182+2T>G (n.3182+2T>G) c.3326+2T>G (n.3326+2T>G) c.3239+2T>G (n.3239+2T>G) c.3047+2T>G (n.3047+2T>G) c.2822+2T>G (n.2822+2T>G) c.2504+2T>G (n.2504+2T>G) c.3413+2T>G (n.3413+2T>G) | |
| 13 | g.101095572A>G | CA388653326 | NALCN | c.3269+2T>C (n.3269+2T>C) c.2990+2T>C (n.2990+2T>C) c.3356+2T>C (n.3356+2T>C) c.3182+2T>C (n.3182+2T>C) c.3326+2T>C (n.3326+2T>C) c.3239+2T>C (n.3239+2T>C) c.3047+2T>C (n.3047+2T>C) c.2822+2T>C (n.2822+2T>C) c.2504+2T>C (n.2504+2T>C) c.3413+2T>C (n.3413+2T>C) | |
| 13 | g.101095572A>T | CA388653327 | NALCN | c.3269+2T>A (n.3269+2T>A) c.2990+2T>A (n.2990+2T>A) c.3356+2T>A (n.3356+2T>A) c.3182+2T>A (n.3182+2T>A) c.3326+2T>A (n.3326+2T>A) c.3239+2T>A (n.3239+2T>A) c.3047+2T>A (n.3047+2T>A) c.2822+2T>A (n.2822+2T>A) c.2504+2T>A (n.2504+2T>A) c.3413+2T>A (n.3413+2T>A) | |
| 13 | g.101095573C>A | CA388653328 | NALCN | c.3269+1G>T (n.3269+1G>T) c.2990+1G>T (n.2990+1G>T) c.3356+1G>T (n.3356+1G>T) c.3182+1G>T (n.3182+1G>T) c.3326+1G>T (n.3326+1G>T) c.3239+1G>T (n.3239+1G>T) c.3047+1G>T (n.3047+1G>T) c.2822+1G>T (n.2822+1G>T) c.2504+1G>T (n.2504+1G>T) c.3413+1G>T (n.3413+1G>T) | gnomAD v4 |
| 13 | g.101095573C= | CA2114394793 | NALCN | c.3269+1G= (n.3269+1G=) c.2990+1G= (n.2990+1G=) c.3356+1G= (n.3356+1G=) c.3182+1G= (n.3182+1G=) c.3326+1G= (n.3326+1G=) c.3239+1G= (n.3239+1G=) c.3047+1G= (n.3047+1G=) c.2822+1G= (n.2822+1G=) c.2504+1G= (n.2504+1G=) c.3413+1G= (n.3413+1G=) | |
| 13 | g.101095573C>G | CA388653329 | NALCN | c.3269+1G>C (n.3269+1G>C) c.2990+1G>C (n.2990+1G>C) c.3356+1G>C (n.3356+1G>C) c.3182+1G>C (n.3182+1G>C) c.3326+1G>C (n.3326+1G>C) c.3239+1G>C (n.3239+1G>C) c.3047+1G>C (n.3047+1G>C) c.2822+1G>C (n.2822+1G>C) c.2504+1G>C (n.2504+1G>C) c.3413+1G>C (n.3413+1G>C) | |
| 13 | g.101095573C>T | CA388653330 | NALCN | c.3269+1G>A (n.3269+1G>A) c.2990+1G>A (n.2990+1G>A) c.3356+1G>A (n.3356+1G>A) c.3182+1G>A (n.3182+1G>A) c.3326+1G>A (n.3326+1G>A) c.3239+1G>A (n.3239+1G>A) c.3047+1G>A (n.3047+1G>A) c.2822+1G>A (n.2822+1G>A) c.2504+1G>A (n.2504+1G>A) c.3413+1G>A (n.3413+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.101095574C>A | CA388653331 | NALCN | c.3269G>T (p.Trp1090Leu) c.2990G>T (p.Trp997Leu) c.3356G>T (p.Trp1119Leu) c.3182G>T (p.Trp1061Leu) c.3326G>T (p.Trp1109Leu) c.3239G>T (p.Trp1080Leu) c.3047G>T (p.Trp1016Leu) c.2822G>T (p.Trp941Leu) c.2504G>T (p.Trp835Leu) c.3413G>T (p.Trp1138Leu) | |
| 13 | g.101095574C= | CA2114394794 | NALCN | c.3269G= (p.Trp1090=) c.2990G= (p.Trp997=) c.3356G= (p.Trp1119=) c.3182G= (p.Trp1061=) c.3326G= (p.Trp1109=) c.3239G= (p.Trp1080=) c.3047G= (p.Trp1016=) c.2822G= (p.Trp941=) c.2504G= (p.Trp835=) c.3413G= (p.Trp1138=) | |
| 13 | g.101095574C>G | CA388653332 | NALCN | c.3269G>C (p.Trp1090Ser) c.2990G>C (p.Trp997Ser) c.3356G>C (p.Trp1119Ser) c.3182G>C (p.Trp1061Ser) c.3326G>C (p.Trp1109Ser) c.3239G>C (p.Trp1080Ser) c.3047G>C (p.Trp1016Ser) c.2822G>C (p.Trp941Ser) c.2504G>C (p.Trp835Ser) c.3413G>C (p.Trp1138Ser) | |
| 13 | g.101095574C>T | CA388653333 | NALCN | c.3269G>A (p.Trp1090Ter) c.2990G>A (p.Trp997Ter) c.3356G>A (p.Trp1119Ter) c.3182G>A (p.Trp1061Ter) c.3326G>A (p.Trp1109Ter) c.3239G>A (p.Trp1080Ter) c.3047G>A (p.Trp1016Ter) c.2822G>A (p.Trp941Ter) c.2504G>A (p.Trp835Ter) c.3413G>A (p.Trp1138Ter) | ClinVar dbSNP gnomAD v4 |
| 13 | g.101095575A>C | CA388653334 | NALCN | c.3268T>G (p.Trp1090Gly) c.2989T>G (p.Trp997Gly) c.3355T>G (p.Trp1119Gly) c.3181T>G (p.Trp1061Gly) c.3325T>G (p.Trp1109Gly) c.3238T>G (p.Trp1080Gly) c.3046T>G (p.Trp1016Gly) c.2821T>G (p.Trp941Gly) c.2503T>G (p.Trp835Gly) c.3412T>G (p.Trp1138Gly) | |
| 13 | g.101095575A>G | CA388653335 | NALCN | c.3268T>C (p.Trp1090Arg) c.2989T>C (p.Trp997Arg) c.3355T>C (p.Trp1119Arg) c.3181T>C (p.Trp1061Arg) c.3325T>C (p.Trp1109Arg) c.3238T>C (p.Trp1080Arg) c.3046T>C (p.Trp1016Arg) c.2821T>C (p.Trp941Arg) c.2503T>C (p.Trp835Arg) c.3412T>C (p.Trp1138Arg) | |
| 13 | g.101095575A>T | CA388653336 | NALCN | c.3268T>A (p.Trp1090Arg) c.2989T>A (p.Trp997Arg) c.3355T>A (p.Trp1119Arg) c.3181T>A (p.Trp1061Arg) c.3325T>A (p.Trp1109Arg) c.3238T>A (p.Trp1080Arg) c.3046T>A (p.Trp1016Arg) c.2821T>A (p.Trp941Arg) c.2503T>A (p.Trp835Arg) c.3412T>A (p.Trp1138Arg) | gnomAD v4 |
| 13 | g.101095576A>C | CA484554091 | NALCN | c.3267T>G (p.Val1089=) c.2988T>G (p.Val996=) c.3354T>G (p.Val1118=) c.3180T>G (p.Val1060=) c.3324T>G (p.Val1108=) c.3237T>G (p.Val1079=) c.3045T>G (p.Val1015=) c.2820T>G (p.Val940=) c.2502T>G (p.Val834=) c.3411T>G (p.Val1137=) | |
| 13 | g.101095576A>G | CA484554093 | NALCN | c.3267T>C (p.Val1089=) c.2988T>C (p.Val996=) c.3354T>C (p.Val1118=) c.3180T>C (p.Val1060=) c.3324T>C (p.Val1108=) c.3237T>C (p.Val1079=) c.3045T>C (p.Val1015=) c.2820T>C (p.Val940=) c.2502T>C (p.Val834=) c.3411T>C (p.Val1137=) | |
| 13 | g.101095576A>T | CA484554095 | NALCN | c.3267T>A (p.Val1089=) c.2988T>A (p.Val996=) c.3354T>A (p.Val1118=) c.3180T>A (p.Val1060=) c.3324T>A (p.Val1108=) c.3237T>A (p.Val1079=) c.3045T>A (p.Val1015=) c.2820T>A (p.Val940=) c.2502T>A (p.Val834=) c.3411T>A (p.Val1137=) | |
| 13 | g.101095577A>C | CA388653337 | NALCN | c.3266T>G (p.Val1089Gly) c.2987T>G (p.Val996Gly) c.3353T>G (p.Val1118Gly) c.3179T>G (p.Val1060Gly) c.3323T>G (p.Val1108Gly) c.3236T>G (p.Val1079Gly) c.3044T>G (p.Val1015Gly) c.2819T>G (p.Val940Gly) c.2501T>G (p.Val834Gly) c.3410T>G (p.Val1137Gly) | |
| 13 | g.101095577A>G | CA388653339 | NALCN | c.3266T>C (p.Val1089Ala) c.2987T>C (p.Val996Ala) c.3353T>C (p.Val1118Ala) c.3179T>C (p.Val1060Ala) c.3323T>C (p.Val1108Ala) c.3236T>C (p.Val1079Ala) c.3044T>C (p.Val1015Ala) c.2819T>C (p.Val940Ala) c.2501T>C (p.Val834Ala) c.3410T>C (p.Val1137Ala) | gnomAD v4 |
| 13 | g.101095577A>T | CA388653338 | NALCN | c.3266T>A (p.Val1089Asp) c.2987T>A (p.Val996Asp) c.3353T>A (p.Val1118Asp) c.3179T>A (p.Val1060Asp) c.3323T>A (p.Val1108Asp) c.3236T>A (p.Val1079Asp) c.3044T>A (p.Val1015Asp) c.2819T>A (p.Val940Asp) c.2501T>A (p.Val834Asp) c.3410T>A (p.Val1137Asp) | |
| 13 | g.101095578C>A | CA388653340 | NALCN | c.3265G>T (p.Val1089Phe) c.2986G>T (p.Val996Phe) c.3352G>T (p.Val1118Phe) c.3178G>T (p.Val1060Phe) c.3322G>T (p.Val1108Phe) c.3235G>T (p.Val1079Phe) c.3043G>T (p.Val1015Phe) c.2818G>T (p.Val940Phe) c.2500G>T (p.Val834Phe) c.3409G>T (p.Val1137Phe) | |
| 13 | g.101095578C>G | CA388653341 | NALCN | c.3265G>C (p.Val1089Leu) c.2986G>C (p.Val996Leu) c.3352G>C (p.Val1118Leu) c.3178G>C (p.Val1060Leu) c.3322G>C (p.Val1108Leu) c.3235G>C (p.Val1079Leu) c.3043G>C (p.Val1015Leu) c.2818G>C (p.Val940Leu) c.2500G>C (p.Val834Leu) c.3409G>C (p.Val1137Leu) | |
| 13 | g.101095578C>T | CA388653342 | NALCN | c.3265G>A (p.Val1089Ile) c.2986G>A (p.Val996Ile) c.3352G>A (p.Val1118Ile) c.3178G>A (p.Val1060Ile) c.3322G>A (p.Val1108Ile) c.3235G>A (p.Val1079Ile) c.3043G>A (p.Val1015Ile) c.2818G>A (p.Val940Ile) c.2500G>A (p.Val834Ile) c.3409G>A (p.Val1137Ile) | |
| 13 | g.101095579A>C | CA484554103 | NALCN | c.3264T>G (p.Arg1088=) c.2985T>G (p.Arg995=) c.3351T>G (p.Arg1117=) c.3177T>G (p.Arg1059=) c.3321T>G (p.Arg1107=) c.3234T>G (p.Arg1078=) c.3042T>G (p.Arg1014=) c.2817T>G (p.Arg939=) c.2499T>G (p.Arg833=) c.3408T>G (p.Arg1136=) | |
| 13 | g.101095579A>G | CA484554104 | NALCN | c.3264T>C (p.Arg1088=) c.2985T>C (p.Arg995=) c.3351T>C (p.Arg1117=) c.3177T>C (p.Arg1059=) c.3321T>C (p.Arg1107=) c.3234T>C (p.Arg1078=) c.3042T>C (p.Arg1014=) c.2817T>C (p.Arg939=) c.2499T>C (p.Arg833=) c.3408T>C (p.Arg1136=) | |
| 13 | g.101095579A>T | CA484554106 | NALCN | c.3264T>A (p.Arg1088=) c.2985T>A (p.Arg995=) c.3351T>A (p.Arg1117=) c.3177T>A (p.Arg1059=) c.3321T>A (p.Arg1107=) c.3234T>A (p.Arg1078=) c.3042T>A (p.Arg1014=) c.2817T>A (p.Arg939=) c.2499T>A (p.Arg833=) c.3408T>A (p.Arg1136=) | |
| 13 | g.101095580C>A | CA255416131 | NALCN | c.3263G>T (p.Arg1088Leu) c.2984G>T (p.Arg995Leu) c.3350G>T (p.Arg1117Leu) c.3176G>T (p.Arg1059Leu) c.3320G>T (p.Arg1107Leu) c.3233G>T (p.Arg1078Leu) c.3041G>T (p.Arg1014Leu) c.2816G>T (p.Arg939Leu) c.2498G>T (p.Arg833Leu) c.3407G>T (p.Arg1136Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101095580C= | CA2114394795 | NALCN | c.3263G= (p.Arg1088=) c.2984G= (p.Arg995=) c.3350G= (p.Arg1117=) c.3176G= (p.Arg1059=) c.3320G= (p.Arg1107=) c.3233G= (p.Arg1078=) c.3041G= (p.Arg1014=) c.2816G= (p.Arg939=) c.2498G= (p.Arg833=) c.3407G= (p.Arg1136=) | |
| 13 | g.101095580C>G | CA388653343 | NALCN | c.3263G>C (p.Arg1088Pro) c.2984G>C (p.Arg995Pro) c.3350G>C (p.Arg1117Pro) c.3176G>C (p.Arg1059Pro) c.3320G>C (p.Arg1107Pro) c.3233G>C (p.Arg1078Pro) c.3041G>C (p.Arg1014Pro) c.2816G>C (p.Arg939Pro) c.2498G>C (p.Arg833Pro) c.3407G>C (p.Arg1136Pro) | COSMIC |
| 13 | g.101095580C>T | CA7035456 | NALCN | c.3263G>A (p.Arg1088His) c.2984G>A (p.Arg995His) c.3350G>A (p.Arg1117His) c.3176G>A (p.Arg1059His) c.3320G>A (p.Arg1107His) c.3233G>A (p.Arg1078His) c.3041G>A (p.Arg1014His) c.2816G>A (p.Arg939His) c.2498G>A (p.Arg833His) c.3407G>A (p.Arg1136His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101095581G>A | CA7035457 | NALCN | c.3262C>T (p.Arg1088Cys) c.2983C>T (p.Arg995Cys) c.3349C>T (p.Arg1117Cys) c.3175C>T (p.Arg1059Cys) c.3319C>T (p.Arg1107Cys) c.3232C>T (p.Arg1078Cys) c.3040C>T (p.Arg1014Cys) c.2815C>T (p.Arg939Cys) c.2497C>T (p.Arg833Cys) c.3406C>T (p.Arg1136Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 13 | g.101095581G>C | CA388653344 | NALCN | c.3262C>G (p.Arg1088Gly) c.2983C>G (p.Arg995Gly) c.3349C>G (p.Arg1117Gly) c.3175C>G (p.Arg1059Gly) c.3319C>G (p.Arg1107Gly) c.3232C>G (p.Arg1078Gly) c.3040C>G (p.Arg1014Gly) c.2815C>G (p.Arg939Gly) c.2497C>G (p.Arg833Gly) c.3406C>G (p.Arg1136Gly) | |
| 13 | g.101095581G= | CA2114394796 | NALCN | c.3262C= (p.Arg1088=) c.2983C= (p.Arg995=) c.3349C= (p.Arg1117=) c.3175C= (p.Arg1059=) c.3319C= (p.Arg1107=) c.3232C= (p.Arg1078=) c.3040C= (p.Arg1014=) c.2815C= (p.Arg939=) c.2497C= (p.Arg833=) c.3406C= (p.Arg1136=) | |
| 13 | g.101095581G>T | CA388653345 | NALCN | c.3262C>A (p.Arg1088Ser) c.2983C>A (p.Arg995Ser) c.3349C>A (p.Arg1117Ser) c.3175C>A (p.Arg1059Ser) c.3319C>A (p.Arg1107Ser) c.3232C>A (p.Arg1078Ser) c.3040C>A (p.Arg1014Ser) c.2815C>A (p.Arg939Ser) c.2497C>A (p.Arg833Ser) c.3406C>A (p.Arg1136Ser) | |
| 13 | g.101095582G>A | CA7035458 | NALCN | c.3261C>T (p.Pro1087=) c.2982C>T (p.Pro994=) c.3348C>T (p.Pro1116=) c.3174C>T (p.Pro1058=) c.3318C>T (p.Pro1106=) c.3231C>T (p.Pro1077=) c.3039C>T (p.Pro1013=) c.2814C>T (p.Pro938=) c.2496C>T (p.Pro832=) c.3405C>T (p.Pro1135=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101095582G>C | CA484554117 | NALCN | c.3261C>G (p.Pro1087=) c.2982C>G (p.Pro994=) c.3348C>G (p.Pro1116=) c.3174C>G (p.Pro1058=) c.3318C>G (p.Pro1106=) c.3231C>G (p.Pro1077=) c.3039C>G (p.Pro1013=) c.2814C>G (p.Pro938=) c.2496C>G (p.Pro832=) c.3405C>G (p.Pro1135=) | |
| 13 | g.101095582G= | CA2114394797 | NALCN | c.3261C= (p.Pro1087=) c.2982C= (p.Pro994=) c.3348C= (p.Pro1116=) c.3174C= (p.Pro1058=) c.3318C= (p.Pro1106=) c.3231C= (p.Pro1077=) c.3039C= (p.Pro1013=) c.2814C= (p.Pro938=) c.2496C= (p.Pro832=) c.3405C= (p.Pro1135=) | |
| 13 | g.101095582G>T | CA484554118 | NALCN | c.3261C>A (p.Pro1087=) c.2982C>A (p.Pro994=) c.3348C>A (p.Pro1116=) c.3174C>A (p.Pro1058=) c.3318C>A (p.Pro1106=) c.3231C>A (p.Pro1077=) c.3039C>A (p.Pro1013=) c.2814C>A (p.Pro938=) c.2496C>A (p.Pro832=) c.3405C>A (p.Pro1135=) | |
| 13 | g.101095583G>A | CA388653347 | NALCN | c.3260C>T (p.Pro1087Leu) c.2981C>T (p.Pro994Leu) c.3347C>T (p.Pro1116Leu) c.3173C>T (p.Pro1058Leu) c.3317C>T (p.Pro1106Leu) c.3230C>T (p.Pro1077Leu) c.3038C>T (p.Pro1013Leu) c.2813C>T (p.Pro938Leu) c.2495C>T (p.Pro832Leu) c.3404C>T (p.Pro1135Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.101095583G>C | CA388653348 | NALCN | c.3260C>G (p.Pro1087Arg) c.2981C>G (p.Pro994Arg) c.3347C>G (p.Pro1116Arg) c.3173C>G (p.Pro1058Arg) c.3317C>G (p.Pro1106Arg) c.3230C>G (p.Pro1077Arg) c.3038C>G (p.Pro1013Arg) c.2813C>G (p.Pro938Arg) c.2495C>G (p.Pro832Arg) c.3404C>G (p.Pro1135Arg) | |
| 13 | g.101095583G= | CA2114394798 | NALCN | c.3260C= (p.Pro1087=) c.2981C= (p.Pro994=) c.3347C= (p.Pro1116=) c.3173C= (p.Pro1058=) c.3317C= (p.Pro1106=) c.3230C= (p.Pro1077=) c.3038C= (p.Pro1013=) c.2813C= (p.Pro938=) c.2495C= (p.Pro832=) c.3404C= (p.Pro1135=) | |
| 13 | g.101095583G>T | CA388653346 | NALCN | c.3260C>A (p.Pro1087His) c.2981C>A (p.Pro994His) c.3347C>A (p.Pro1116His) c.3173C>A (p.Pro1058His) c.3317C>A (p.Pro1106His) c.3230C>A (p.Pro1077His) c.3038C>A (p.Pro1013His) c.2813C>A (p.Pro938His) c.2495C>A (p.Pro832His) c.3404C>A (p.Pro1135His) | |
| 13 | g.101095584G>A | CA388653349 | NALCN | c.3259C>T (p.Pro1087Ser) c.2980C>T (p.Pro994Ser) c.3346C>T (p.Pro1116Ser) c.3172C>T (p.Pro1058Ser) c.3316C>T (p.Pro1106Ser) c.3229C>T (p.Pro1077Ser) c.3037C>T (p.Pro1013Ser) c.2812C>T (p.Pro938Ser) c.2494C>T (p.Pro832Ser) c.3403C>T (p.Pro1135Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.101095584G>C | CA388653350 | NALCN | c.3259C>G (p.Pro1087Ala) c.2980C>G (p.Pro994Ala) c.3346C>G (p.Pro1116Ala) c.3172C>G (p.Pro1058Ala) c.3316C>G (p.Pro1106Ala) c.3229C>G (p.Pro1077Ala) c.3037C>G (p.Pro1013Ala) c.2812C>G (p.Pro938Ala) c.2494C>G (p.Pro832Ala) c.3403C>G (p.Pro1135Ala) | |
| 13 | g.101095584G= | CA2114394799 | NALCN | c.3259C= (p.Pro1087=) c.2980C= (p.Pro994=) c.3346C= (p.Pro1116=) c.3172C= (p.Pro1058=) c.3316C= (p.Pro1106=) c.3229C= (p.Pro1077=) c.3037C= (p.Pro1013=) c.2812C= (p.Pro938=) c.2494C= (p.Pro832=) c.3403C= (p.Pro1135=) | |
| 13 | g.101095584G>T | CA388653351 | NALCN | c.3259C>A (p.Pro1087Thr) c.2980C>A (p.Pro994Thr) c.3346C>A (p.Pro1116Thr) c.3172C>A (p.Pro1058Thr) c.3316C>A (p.Pro1106Thr) c.3229C>A (p.Pro1077Thr) c.3037C>A (p.Pro1013Thr) c.2812C>A (p.Pro938Thr) c.2494C>A (p.Pro832Thr) c.3403C>A (p.Pro1135Thr) | |
| 13 | g.101095585C>A | CA484554127 | NALCN | c.3258G>T (p.Val1086=) c.2979G>T (p.Val993=) c.3345G>T (p.Val1115=) c.3171G>T (p.Val1057=) c.3315G>T (p.Val1105=) c.3228G>T (p.Val1076=) c.3036G>T (p.Val1012=) c.2811G>T (p.Val937=) c.2493G>T (p.Val831=) c.3402G>T (p.Val1134=) | |
| 13 | g.101095585C>G | CA484554129 | NALCN | c.3258G>C (p.Val1086=) c.2979G>C (p.Val993=) c.3345G>C (p.Val1115=) c.3171G>C (p.Val1057=) c.3315G>C (p.Val1105=) c.3228G>C (p.Val1076=) c.3036G>C (p.Val1012=) c.2811G>C (p.Val937=) c.2493G>C (p.Val831=) c.3402G>C (p.Val1134=) | |
| 13 | g.101095585C>T | CA484554126 | NALCN | c.3258G>A (p.Val1086=) c.2979G>A (p.Val993=) c.3345G>A (p.Val1115=) c.3171G>A (p.Val1057=) c.3315G>A (p.Val1105=) c.3228G>A (p.Val1076=) c.3036G>A (p.Val1012=) c.2811G>A (p.Val937=) c.2493G>A (p.Val831=) c.3402G>A (p.Val1134=) | gnomAD v4 COSMIC |
| 13 | g.101095586A>C | CA388653352 | NALCN | c.3257T>G (p.Val1086Gly) c.2978T>G (p.Val993Gly) c.3344T>G (p.Val1115Gly) c.3170T>G (p.Val1057Gly) c.3314T>G (p.Val1105Gly) c.3227T>G (p.Val1076Gly) c.3035T>G (p.Val1012Gly) c.2810T>G (p.Val937Gly) c.2492T>G (p.Val831Gly) c.3401T>G (p.Val1134Gly) | gnomAD v4 |
| 13 | g.101095586A>G | CA388653353 | NALCN | c.3257T>C (p.Val1086Ala) c.2978T>C (p.Val993Ala) c.3344T>C (p.Val1115Ala) c.3170T>C (p.Val1057Ala) c.3314T>C (p.Val1105Ala) c.3227T>C (p.Val1076Ala) c.3035T>C (p.Val1012Ala) c.2810T>C (p.Val937Ala) c.2492T>C (p.Val831Ala) c.3401T>C (p.Val1134Ala) | |
| 13 | g.101095586A>T | CA388653354 | NALCN | c.3257T>A (p.Val1086Glu) c.2978T>A (p.Val993Glu) c.3344T>A (p.Val1115Glu) c.3170T>A (p.Val1057Glu) c.3314T>A (p.Val1105Glu) c.3227T>A (p.Val1076Glu) c.3035T>A (p.Val1012Glu) c.2810T>A (p.Val937Glu) c.2492T>A (p.Val831Glu) c.3401T>A (p.Val1134Glu) | |
| 13 | g.101095586_101095587delinsAC | CA2114394800 | NALCN | c.3256_3257delinsGT (p.Val1086=) c.2977_2978delinsGT (p.Val993=) c.3343_3344delinsGT (p.Val1115=) c.3169_3170delinsGT (p.Val1057=) c.3313_3314delinsGT (p.Val1105=) c.3226_3227delinsGT (p.Val1076=) c.3034_3035delinsGT (p.Val1012=) c.2809_2810delinsGT (p.Val937=) c.2491_2492delinsGT (p.Val831=) c.3400_3401delinsGT (p.Val1134=) | |
| 13 | g.101095587C>A | CA388653355 | NALCN | c.3256G>T (p.Val1086Leu) c.2977G>T (p.Val993Leu) c.3343G>T (p.Val1115Leu) c.3169G>T (p.Val1057Leu) c.3313G>T (p.Val1105Leu) c.3226G>T (p.Val1076Leu) c.3034G>T (p.Val1012Leu) c.2809G>T (p.Val937Leu) c.2491G>T (p.Val831Leu) c.3400G>T (p.Val1134Leu) | |
| 13 | g.101095587C>G | CA388653356 | NALCN | c.3256G>C (p.Val1086Leu) c.2977G>C (p.Val993Leu) c.3343G>C (p.Val1115Leu) c.3169G>C (p.Val1057Leu) c.3313G>C (p.Val1105Leu) c.3226G>C (p.Val1076Leu) c.3034G>C (p.Val1012Leu) c.2809G>C (p.Val937Leu) c.2491G>C (p.Val831Leu) c.3400G>C (p.Val1134Leu) | |
| 13 | g.101095587C>T | CA388653357 | NALCN | c.3256G>A (p.Val1086Met) c.2977G>A (p.Val993Met) c.3343G>A (p.Val1115Met) c.3169G>A (p.Val1057Met) c.3313G>A (p.Val1105Met) c.3226G>A (p.Val1076Met) c.3034G>A (p.Val1012Met) c.2809G>A (p.Val937Met) c.2491G>A (p.Val831Met) c.3400G>A (p.Val1134Met) | |
| 13 | g.101095589dup | CA2623579083 | NALCN | c.3256dup (p.Val1086GlyfsTer12) c.2977dup (p.Val993GlyfsTer12) c.3343dup (p.Val1115GlyfsTer12) c.3169dup (p.Val1057GlyfsTer12) c.3313dup (p.Val1105GlyfsTer12) c.3226dup (p.Val1076GlyfsTer12) c.3034dup (p.Val1012GlyfsTer12) c.2809dup (p.Val937GlyfsTer12) c.2491dup (p.Val831GlyfsTer12) c.3400dup (p.Val1134GlyfsTer12) | gnomAD v4 |
| 13 | g.101095589del | CA611948475 | NALCN | c.3256del (p.Val1086CysfsTer29) c.2977del (p.Val993CysfsTer29) c.3343del (p.Val1115CysfsTer29) c.3169del (p.Val1057CysfsTer29) c.3313del (p.Val1105CysfsTer29) c.3226del (p.Val1076CysfsTer29) c.3034del (p.Val1012CysfsTer29) c.2809del (p.Val937CysfsTer29) c.2491del (p.Val831CysfsTer29) c.3400del (p.Val1134CysfsTer29) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.101095588C>A | CA388653358 | NALCN | c.3255G>T (p.Trp1085Cys) c.2976G>T (p.Trp992Cys) c.3342G>T (p.Trp1114Cys) c.3168G>T (p.Trp1056Cys) c.3312G>T (p.Trp1104Cys) c.3225G>T (p.Trp1075Cys) c.3033G>T (p.Trp1011Cys) c.2808G>T (p.Trp936Cys) c.2490G>T (p.Trp830Cys) c.3399G>T (p.Trp1133Cys) | |
| 13 | g.101095588C= | CA2114394801 | NALCN | c.3255G= (p.Trp1085=) c.2976G= (p.Trp992=) c.3342G= (p.Trp1114=) c.3168G= (p.Trp1056=) c.3312G= (p.Trp1104=) c.3225G= (p.Trp1075=) c.3033G= (p.Trp1011=) c.2808G= (p.Trp936=) c.2490G= (p.Trp830=) c.3399G= (p.Trp1133=) | |
| 13 | g.101095588C>G | CA388653359 | NALCN | c.3255G>C (p.Trp1085Cys) c.2976G>C (p.Trp992Cys) c.3342G>C (p.Trp1114Cys) c.3168G>C (p.Trp1056Cys) c.3312G>C (p.Trp1104Cys) c.3225G>C (p.Trp1075Cys) c.3033G>C (p.Trp1011Cys) c.2808G>C (p.Trp936Cys) c.2490G>C (p.Trp830Cys) c.3399G>C (p.Trp1133Cys) | |
| 13 | g.101095588C>T | CA7035459 | NALCN | c.3255G>A (p.Trp1085Ter) c.2976G>A (p.Trp992Ter) c.3342G>A (p.Trp1114Ter) c.3168G>A (p.Trp1056Ter) c.3312G>A (p.Trp1104Ter) c.3225G>A (p.Trp1075Ter) c.3033G>A (p.Trp1011Ter) c.2808G>A (p.Trp936Ter) c.2490G>A (p.Trp830Ter) c.3399G>A (p.Trp1133Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101095589C>A | CA388653361 | NALCN | c.3254G>T (p.Trp1085Leu) c.2975G>T (p.Trp992Leu) c.3341G>T (p.Trp1114Leu) c.3167G>T (p.Trp1056Leu) c.3311G>T (p.Trp1104Leu) c.3224G>T (p.Trp1075Leu) c.3032G>T (p.Trp1011Leu) c.2807G>T (p.Trp936Leu) c.2489G>T (p.Trp830Leu) c.3398G>T (p.Trp1133Leu) | |
| 13 | g.101095589C>G | CA388653362 | NALCN | c.3254G>C (p.Trp1085Ser) c.2975G>C (p.Trp992Ser) c.3341G>C (p.Trp1114Ser) c.3167G>C (p.Trp1056Ser) c.3311G>C (p.Trp1104Ser) c.3224G>C (p.Trp1075Ser) c.3032G>C (p.Trp1011Ser) c.2807G>C (p.Trp936Ser) c.2489G>C (p.Trp830Ser) c.3398G>C (p.Trp1133Ser) | |
| 13 | g.101095589C>T | CA388653360 | NALCN | c.3254G>A (p.Trp1085Ter) c.2975G>A (p.Trp992Ter) c.3341G>A (p.Trp1114Ter) c.3167G>A (p.Trp1056Ter) c.3311G>A (p.Trp1104Ter) c.3224G>A (p.Trp1075Ter) c.3032G>A (p.Trp1011Ter) c.2807G>A (p.Trp936Ter) c.2489G>A (p.Trp830Ter) c.3398G>A (p.Trp1133Ter) | |
| 13 | g.101095590A>C | CA388653363 | NALCN | c.3253T>G (p.Trp1085Gly) c.2974T>G (p.Trp992Gly) c.3340T>G (p.Trp1114Gly) c.3166T>G (p.Trp1056Gly) c.3310T>G (p.Trp1104Gly) c.3223T>G (p.Trp1075Gly) c.3031T>G (p.Trp1011Gly) c.2806T>G (p.Trp936Gly) c.2488T>G (p.Trp830Gly) c.3397T>G (p.Trp1133Gly) | |
| 13 | g.101095590A>G | CA388653364 | NALCN | c.3253T>C (p.Trp1085Arg) c.2974T>C (p.Trp992Arg) c.3340T>C (p.Trp1114Arg) c.3166T>C (p.Trp1056Arg) c.3310T>C (p.Trp1104Arg) c.3223T>C (p.Trp1075Arg) c.3031T>C (p.Trp1011Arg) c.2806T>C (p.Trp936Arg) c.2488T>C (p.Trp830Arg) c.3397T>C (p.Trp1133Arg) | COSMIC |
| 13 | g.101095590A>T | CA388653365 | NALCN | c.3253T>A (p.Trp1085Arg) c.2974T>A (p.Trp992Arg) c.3340T>A (p.Trp1114Arg) c.3166T>A (p.Trp1056Arg) c.3310T>A (p.Trp1104Arg) c.3223T>A (p.Trp1075Arg) c.3031T>A (p.Trp1011Arg) c.2806T>A (p.Trp936Arg) c.2488T>A (p.Trp830Arg) c.3397T>A (p.Trp1133Arg) | |
| 13 | g.101095593del | CA2623579084 | NALCN | c.3253del (p.Trp1085GlyfsTer30) c.2974del (p.Trp992GlyfsTer30) c.3340del (p.Trp1114GlyfsTer30) c.3166del (p.Trp1056GlyfsTer30) c.3310del (p.Trp1104GlyfsTer30) c.3223del (p.Trp1075GlyfsTer30) c.3031del (p.Trp1011GlyfsTer30) c.2806del (p.Trp936GlyfsTer30) c.2488del (p.Trp830GlyfsTer30) c.3397del (p.Trp1133GlyfsTer30) | gnomAD v4 |
| 13 | g.101095591A>C | CA388653366 | NALCN | c.3252T>G (p.Phe1084Leu) c.2973T>G (p.Phe991Leu) c.3339T>G (p.Phe1113Leu) c.3165T>G (p.Phe1055Leu) c.3309T>G (p.Phe1103Leu) c.3222T>G (p.Phe1074Leu) c.3030T>G (p.Phe1010Leu) c.2805T>G (p.Phe935Leu) c.2487T>G (p.Phe829Leu) c.3396T>G (p.Phe1132Leu) | |
| 13 | g.101095591A>G | CA484554147 | NALCN | c.3252T>C (p.Phe1084=) c.2973T>C (p.Phe991=) c.3339T>C (p.Phe1113=) c.3165T>C (p.Phe1055=) c.3309T>C (p.Phe1103=) c.3222T>C (p.Phe1074=) c.3030T>C (p.Phe1010=) c.2805T>C (p.Phe935=) c.2487T>C (p.Phe829=) c.3396T>C (p.Phe1132=) | |
| 13 | g.101095591A>T | CA388653367 | NALCN | c.3252T>A (p.Phe1084Leu) c.2973T>A (p.Phe991Leu) c.3339T>A (p.Phe1113Leu) c.3165T>A (p.Phe1055Leu) c.3309T>A (p.Phe1103Leu) c.3222T>A (p.Phe1074Leu) c.3030T>A (p.Phe1010Leu) c.2805T>A (p.Phe935Leu) c.2487T>A (p.Phe829Leu) c.3396T>A (p.Phe1132Leu) | |
| 13 | g.101095592A= | CA2114394802 | NALCN | c.3251T= (p.Phe1084=) c.2972T= (p.Phe991=) c.3338T= (p.Phe1113=) c.3164T= (p.Phe1055=) c.3308T= (p.Phe1103=) c.3221T= (p.Phe1074=) c.3029T= (p.Phe1010=) c.2804T= (p.Phe935=) c.2486T= (p.Phe829=) c.3395T= (p.Phe1132=) | |
| 13 | g.101095592A>C | CA388653370 | NALCN | c.3251T>G (p.Phe1084Cys) c.2972T>G (p.Phe991Cys) c.3338T>G (p.Phe1113Cys) c.3164T>G (p.Phe1055Cys) c.3308T>G (p.Phe1103Cys) c.3221T>G (p.Phe1074Cys) c.3029T>G (p.Phe1010Cys) c.2804T>G (p.Phe935Cys) c.2486T>G (p.Phe829Cys) c.3395T>G (p.Phe1132Cys) | |
| 13 | g.101095592A>G | CA388653369 | NALCN | c.3251T>C (p.Phe1084Ser) c.2972T>C (p.Phe991Ser) c.3338T>C (p.Phe1113Ser) c.3164T>C (p.Phe1055Ser) c.3308T>C (p.Phe1103Ser) c.3221T>C (p.Phe1074Ser) c.3029T>C (p.Phe1010Ser) c.2804T>C (p.Phe935Ser) c.2486T>C (p.Phe829Ser) c.3395T>C (p.Phe1132Ser) | |
| 13 | g.101095592A>T | CA388653368 | NALCN | c.3251T>A (p.Phe1084Tyr) c.2972T>A (p.Phe991Tyr) c.3338T>A (p.Phe1113Tyr) c.3164T>A (p.Phe1055Tyr) c.3308T>A (p.Phe1103Tyr) c.3221T>A (p.Phe1074Tyr) c.3029T>A (p.Phe1010Tyr) c.2804T>A (p.Phe935Tyr) c.2486T>A (p.Phe829Tyr) c.3395T>A (p.Phe1132Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101095593A>C | CA388653371 | NALCN | c.3250T>G (p.Phe1084Val) c.2971T>G (p.Phe991Val) c.3337T>G (p.Phe1113Val) c.3163T>G (p.Phe1055Val) c.3307T>G (p.Phe1103Val) c.3220T>G (p.Phe1074Val) c.3028T>G (p.Phe1010Val) c.2803T>G (p.Phe935Val) c.2485T>G (p.Phe829Val) c.3394T>G (p.Phe1132Val) | |
| 13 | g.101095593A>G | CA388653372 | NALCN | c.3250T>C (p.Phe1084Leu) c.2971T>C (p.Phe991Leu) c.3337T>C (p.Phe1113Leu) c.3163T>C (p.Phe1055Leu) c.3307T>C (p.Phe1103Leu) c.3220T>C (p.Phe1074Leu) c.3028T>C (p.Phe1010Leu) c.2803T>C (p.Phe935Leu) c.2485T>C (p.Phe829Leu) c.3394T>C (p.Phe1132Leu) | |
| 13 | g.101095593A>T | CA388653373 | NALCN | c.3250T>A (p.Phe1084Ile) c.2971T>A (p.Phe991Ile) c.3337T>A (p.Phe1113Ile) c.3163T>A (p.Phe1055Ile) c.3307T>A (p.Phe1103Ile) c.3220T>A (p.Phe1074Ile) c.3028T>A (p.Phe1010Ile) c.2803T>A (p.Phe935Ile) c.2485T>A (p.Phe829Ile) c.3394T>A (p.Phe1132Ile) | ClinVar |
| 13 | g.101095594T>A | CA484554156 | NALCN | c.3249A>T (p.Gly1083=) c.2970A>T (p.Gly990=) c.3336A>T (p.Gly1112=) c.3162A>T (p.Gly1054=) c.3306A>T (p.Gly1102=) c.3219A>T (p.Gly1073=) c.3027A>T (p.Gly1009=) c.2802A>T (p.Gly934=) c.2484A>T (p.Gly828=) c.3393A>T (p.Gly1131=) | |
| 13 | g.101095594T>C | CA484554157 | NALCN | c.3249A>G (p.Gly1083=) c.2970A>G (p.Gly990=) c.3336A>G (p.Gly1112=) c.3162A>G (p.Gly1054=) c.3306A>G (p.Gly1102=) c.3219A>G (p.Gly1073=) c.3027A>G (p.Gly1009=) c.2802A>G (p.Gly934=) c.2484A>G (p.Gly828=) c.3393A>G (p.Gly1131=) | |
| 13 | g.101095594T>G | CA484554159 | NALCN | c.3249A>C (p.Gly1083=) c.2970A>C (p.Gly990=) c.3336A>C (p.Gly1112=) c.3162A>C (p.Gly1054=) c.3306A>C (p.Gly1102=) c.3219A>C (p.Gly1073=) c.3027A>C (p.Gly1009=) c.2802A>C (p.Gly934=) c.2484A>C (p.Gly828=) c.3393A>C (p.Gly1131=) | |
| 13 | g.101095595C>A | CA388653374 | NALCN | c.3248G>T (p.Gly1083Val) c.2969G>T (p.Gly990Val) c.3335G>T (p.Gly1112Val) c.3161G>T (p.Gly1054Val) c.3305G>T (p.Gly1102Val) c.3218G>T (p.Gly1073Val) c.3026G>T (p.Gly1009Val) c.2801G>T (p.Gly934Val) c.2483G>T (p.Gly828Val) c.3392G>T (p.Gly1131Val) | |
| 13 | g.101095595C>G | CA388653375 | NALCN | c.3248G>C (p.Gly1083Ala) c.2969G>C (p.Gly990Ala) c.3335G>C (p.Gly1112Ala) c.3161G>C (p.Gly1054Ala) c.3305G>C (p.Gly1102Ala) c.3218G>C (p.Gly1073Ala) c.3026G>C (p.Gly1009Ala) c.2801G>C (p.Gly934Ala) c.2483G>C (p.Gly828Ala) c.3392G>C (p.Gly1131Ala) | |
| 13 | g.101095595C>T | CA388653376 | NALCN | c.3248G>A (p.Gly1083Glu) c.2969G>A (p.Gly990Glu) c.3335G>A (p.Gly1112Glu) c.3161G>A (p.Gly1054Glu) c.3305G>A (p.Gly1102Glu) c.3218G>A (p.Gly1073Glu) c.3026G>A (p.Gly1009Glu) c.2801G>A (p.Gly934Glu) c.2483G>A (p.Gly828Glu) c.3392G>A (p.Gly1131Glu) | |
| 13 | g.101095596C>A | CA388653377 | NALCN | c.3247G>T (p.Gly1083Ter) c.2968G>T (p.Gly990Ter) c.3334G>T (p.Gly1112Ter) c.3160G>T (p.Gly1054Ter) c.3304G>T (p.Gly1102Ter) c.3217G>T (p.Gly1073Ter) c.3025G>T (p.Gly1009Ter) c.2800G>T (p.Gly934Ter) c.2482G>T (p.Gly828Ter) c.3391G>T (p.Gly1131Ter) | |
| 13 | g.101095596C>G | CA388653379 | NALCN | c.3247G>C (p.Gly1083Arg) c.2968G>C (p.Gly990Arg) c.3334G>C (p.Gly1112Arg) c.3160G>C (p.Gly1054Arg) c.3304G>C (p.Gly1102Arg) c.3217G>C (p.Gly1073Arg) c.3025G>C (p.Gly1009Arg) c.2800G>C (p.Gly934Arg) c.2482G>C (p.Gly828Arg) c.3391G>C (p.Gly1131Arg) | |
| 13 | g.101095596C>T | CA388653378 | NALCN | c.3247G>A (p.Gly1083Arg) c.2968G>A (p.Gly990Arg) c.3334G>A (p.Gly1112Arg) c.3160G>A (p.Gly1054Arg) c.3304G>A (p.Gly1102Arg) c.3217G>A (p.Gly1073Arg) c.3025G>A (p.Gly1009Arg) c.2800G>A (p.Gly934Arg) c.2482G>A (p.Gly828Arg) c.3391G>A (p.Gly1131Arg) | |
| 13 | g.101095596_101095599del | CA2575448289 | NALCN | c.3244_3247del (p.Pro1082AspfsTer?) c.2965_2968del (p.Pro989AspfsTer?) c.3331_3334del (p.Pro1111AspfsTer?) c.3157_3160del (p.Pro1053AspfsTer?) c.3301_3304del (p.Pro1101AspfsTer?) c.3214_3217del (p.Pro1072AspfsTer?) c.3022_3025del (p.Pro1008AspfsTer?) c.2797_2800del (p.Pro933AspfsTer?) c.2479_2482del (p.Pro827AspfsTer?) c.3388_3391del (p.Pro1130AspfsTer?) | |
| 13 | g.101095597A= | CA2114394803 | NALCN | c.3246T= (p.Pro1082=) c.2967T= (p.Pro989=) c.3333T= (p.Pro1111=) c.3159T= (p.Pro1053=) c.3303T= (p.Pro1101=) c.3216T= (p.Pro1072=) c.3024T= (p.Pro1008=) c.2799T= (p.Pro933=) c.2481T= (p.Pro827=) c.3390T= (p.Pro1130=) | |
| 13 | g.101095597A>C | CA484554168 | NALCN | c.3246T>G (p.Pro1082=) c.2967T>G (p.Pro989=) c.3333T>G (p.Pro1111=) c.3159T>G (p.Pro1053=) c.3303T>G (p.Pro1101=) c.3216T>G (p.Pro1072=) c.3024T>G (p.Pro1008=) c.2799T>G (p.Pro933=) c.2481T>G (p.Pro827=) c.3390T>G (p.Pro1130=) | |
| 13 | g.101095597A>G | CA7035460 | NALCN | c.3246T>C (p.Pro1082=) c.2967T>C (p.Pro989=) c.3333T>C (p.Pro1111=) c.3159T>C (p.Pro1053=) c.3303T>C (p.Pro1101=) c.3216T>C (p.Pro1072=) c.3024T>C (p.Pro1008=) c.2799T>C (p.Pro933=) c.2481T>C (p.Pro827=) c.3390T>C (p.Pro1130=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101095597A>T | CA484554170 | NALCN | c.3246T>A (p.Pro1082=) c.2967T>A (p.Pro989=) c.3333T>A (p.Pro1111=) c.3159T>A (p.Pro1053=) c.3303T>A (p.Pro1101=) c.3216T>A (p.Pro1072=) c.3024T>A (p.Pro1008=) c.2799T>A (p.Pro933=) c.2481T>A (p.Pro827=) c.3390T>A (p.Pro1130=) | |
| 13 | g.101095598G>A | CA388653380 | NALCN | c.3245C>T (p.Pro1082Leu) c.2966C>T (p.Pro989Leu) c.3332C>T (p.Pro1111Leu) c.3158C>T (p.Pro1053Leu) c.3302C>T (p.Pro1101Leu) c.3215C>T (p.Pro1072Leu) c.3023C>T (p.Pro1008Leu) c.2798C>T (p.Pro933Leu) c.2480C>T (p.Pro827Leu) c.3389C>T (p.Pro1130Leu) | |
| 13 | g.101095598G>C | CA388653381 | NALCN | c.3245C>G (p.Pro1082Arg) c.2966C>G (p.Pro989Arg) c.3332C>G (p.Pro1111Arg) c.3158C>G (p.Pro1053Arg) c.3302C>G (p.Pro1101Arg) c.3215C>G (p.Pro1072Arg) c.3023C>G (p.Pro1008Arg) c.2798C>G (p.Pro933Arg) c.2480C>G (p.Pro827Arg) c.3389C>G (p.Pro1130Arg) | |
| 13 | g.101095598G>T | CA388653382 | NALCN | c.3245C>A (p.Pro1082His) c.2966C>A (p.Pro989His) c.3332C>A (p.Pro1111His) c.3158C>A (p.Pro1053His) c.3302C>A (p.Pro1101His) c.3215C>A (p.Pro1072His) c.3023C>A (p.Pro1008His) c.2798C>A (p.Pro933His) c.2480C>A (p.Pro827His) c.3389C>A (p.Pro1130His) | |
| 13 | g.101095599G>A | CA388653383 | NALCN | c.3244C>T (p.Pro1082Ser) c.2965C>T (p.Pro989Ser) c.3331C>T (p.Pro1111Ser) c.3157C>T (p.Pro1053Ser) c.3301C>T (p.Pro1101Ser) c.3214C>T (p.Pro1072Ser) c.3022C>T (p.Pro1008Ser) c.2797C>T (p.Pro933Ser) c.2479C>T (p.Pro827Ser) c.3388C>T (p.Pro1130Ser) | gnomAD v4 |
| 13 | g.101095599G>C | CA388653384 | NALCN | c.3244C>G (p.Pro1082Ala) c.2965C>G (p.Pro989Ala) c.3331C>G (p.Pro1111Ala) c.3157C>G (p.Pro1053Ala) c.3301C>G (p.Pro1101Ala) c.3214C>G (p.Pro1072Ala) c.3022C>G (p.Pro1008Ala) c.2797C>G (p.Pro933Ala) c.2479C>G (p.Pro827Ala) c.3388C>G (p.Pro1130Ala) | COSMIC |
| 13 | g.101095599G= | CA2114394804 | NALCN | c.3244C= (p.Pro1082=) c.2965C= (p.Pro989=) c.3331C= (p.Pro1111=) c.3157C= (p.Pro1053=) c.3301C= (p.Pro1101=) c.3214C= (p.Pro1072=) c.3022C= (p.Pro1008=) c.2797C= (p.Pro933=) c.2479C= (p.Pro827=) c.3388C= (p.Pro1130=) | |
| 13 | g.101095599G>T | CA388653385 | NALCN | c.3244C>A (p.Pro1082Thr) c.2965C>A (p.Pro989Thr) c.3331C>A (p.Pro1111Thr) c.3157C>A (p.Pro1053Thr) c.3301C>A (p.Pro1101Thr) c.3214C>A (p.Pro1072Thr) c.3022C>A (p.Pro1008Thr) c.2797C>A (p.Pro933Thr) c.2479C>A (p.Pro827Thr) c.3388C>A (p.Pro1130Thr) | dbSNP |
| 13 | g.101095600T>A | CA388653386 | NALCN | c.3243A>T (p.Lys1081Asn) c.2964A>T (p.Lys988Asn) c.3330A>T (p.Lys1110Asn) c.3156A>T (p.Lys1052Asn) c.3300A>T (p.Lys1100Asn) c.3213A>T (p.Lys1071Asn) c.3021A>T (p.Lys1007Asn) c.2796A>T (p.Lys932Asn) c.2478A>T (p.Lys826Asn) c.3387A>T (p.Lys1129Asn) | |
| 13 | g.101095600T>C | CA484554179 | NALCN | c.3243A>G (p.Lys1081=) c.2964A>G (p.Lys988=) c.3330A>G (p.Lys1110=) c.3156A>G (p.Lys1052=) c.3300A>G (p.Lys1100=) c.3213A>G (p.Lys1071=) c.3021A>G (p.Lys1007=) c.2796A>G (p.Lys932=) c.2478A>G (p.Lys826=) c.3387A>G (p.Lys1129=) | |
| 13 | g.101095600T>G | CA388653387 | NALCN | c.3243A>C (p.Lys1081Asn) c.2964A>C (p.Lys988Asn) c.3330A>C (p.Lys1110Asn) c.3156A>C (p.Lys1052Asn) c.3300A>C (p.Lys1100Asn) c.3213A>C (p.Lys1071Asn) c.3021A>C (p.Lys1007Asn) c.2796A>C (p.Lys932Asn) c.2478A>C (p.Lys826Asn) c.3387A>C (p.Lys1129Asn) | |
| 13 | g.101095605dup | CA611948479 | NALCN | c.3243dup (p.Pro1082ThrfsTer16) c.2964dup (p.Pro989ThrfsTer16) c.3330dup (p.Pro1111ThrfsTer16) c.3156dup (p.Pro1053ThrfsTer16) c.3300dup (p.Pro1101ThrfsTer16) c.3213dup (p.Pro1072ThrfsTer16) c.3021dup (p.Pro1008ThrfsTer16) c.2796dup (p.Pro933ThrfsTer16) c.2478dup (p.Pro827ThrfsTer16) c.3387dup (p.Pro1130ThrfsTer16) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.101095601T>A | CA388653388 | NALCN | c.3242A>T (p.Lys1081Ile) c.2963A>T (p.Lys988Ile) c.3329A>T (p.Lys1110Ile) c.3155A>T (p.Lys1052Ile) c.3299A>T (p.Lys1100Ile) c.3212A>T (p.Lys1071Ile) c.3020A>T (p.Lys1007Ile) c.2795A>T (p.Lys932Ile) c.2477A>T (p.Lys826Ile) c.3386A>T (p.Lys1129Ile) | |
| 13 | g.101095601T>C | CA388653389 | NALCN | c.3242A>G (p.Lys1081Arg) c.2963A>G (p.Lys988Arg) c.3329A>G (p.Lys1110Arg) c.3155A>G (p.Lys1052Arg) c.3299A>G (p.Lys1100Arg) c.3212A>G (p.Lys1071Arg) c.3020A>G (p.Lys1007Arg) c.2795A>G (p.Lys932Arg) c.2477A>G (p.Lys826Arg) c.3386A>G (p.Lys1129Arg) | |
| 13 | g.101095601T>G | CA388653390 | NALCN | c.3242A>C (p.Lys1081Thr) c.2963A>C (p.Lys988Thr) c.3329A>C (p.Lys1110Thr) c.3155A>C (p.Lys1052Thr) c.3299A>C (p.Lys1100Thr) c.3212A>C (p.Lys1071Thr) c.3020A>C (p.Lys1007Thr) c.2795A>C (p.Lys932Thr) c.2477A>C (p.Lys826Thr) c.3386A>C (p.Lys1129Thr) | |
| 13 | g.101095602T>A | CA388653391 | NALCN | c.3241A>T (p.Lys1081Ter) c.2962A>T (p.Lys988Ter) c.3328A>T (p.Lys1110Ter) c.3154A>T (p.Lys1052Ter) c.3298A>T (p.Lys1100Ter) c.3211A>T (p.Lys1071Ter) c.3019A>T (p.Lys1007Ter) c.2794A>T (p.Lys932Ter) c.2476A>T (p.Lys826Ter) c.3385A>T (p.Lys1129Ter) | |
| 13 | g.101095602T>C | CA388653392 | NALCN | c.3241A>G (p.Lys1081Glu) c.2962A>G (p.Lys988Glu) c.3328A>G (p.Lys1110Glu) c.3154A>G (p.Lys1052Glu) c.3298A>G (p.Lys1100Glu) c.3211A>G (p.Lys1071Glu) c.3019A>G (p.Lys1007Glu) c.2794A>G (p.Lys932Glu) c.2476A>G (p.Lys826Glu) c.3385A>G (p.Lys1129Glu) | |
| 13 | g.101095602T>G | CA388653393 | NALCN | c.3241A>C (p.Lys1081Gln) c.2962A>C (p.Lys988Gln) c.3328A>C (p.Lys1110Gln) c.3154A>C (p.Lys1052Gln) c.3298A>C (p.Lys1100Gln) c.3211A>C (p.Lys1071Gln) c.3019A>C (p.Lys1007Gln) c.2794A>C (p.Lys932Gln) c.2476A>C (p.Lys826Gln) c.3385A>C (p.Lys1129Gln) | |
| 13 | g.101095603T>A | CA388653395 | NALCN | c.3240A>T (p.Lys1080Asn) c.2961A>T (p.Lys987Asn) c.3327A>T (p.Lys1109Asn) c.3153A>T (p.Lys1051Asn) c.3297A>T (p.Lys1099Asn) c.3210A>T (p.Lys1070Asn) c.3018A>T (p.Lys1006Asn) c.2793A>T (p.Lys931Asn) c.2475A>T (p.Lys825Asn) c.3384A>T (p.Lys1128Asn) | |
| 13 | g.101095603T>C | CA484554189 | NALCN | c.3240A>G (p.Lys1080=) c.2961A>G (p.Lys987=) c.3327A>G (p.Lys1109=) c.3153A>G (p.Lys1051=) c.3297A>G (p.Lys1099=) c.3210A>G (p.Lys1070=) c.3018A>G (p.Lys1006=) c.2793A>G (p.Lys931=) c.2475A>G (p.Lys825=) c.3384A>G (p.Lys1128=) | |
| 13 | g.101095603T>G | CA388653394 | NALCN | c.3240A>C (p.Lys1080Asn) c.2961A>C (p.Lys987Asn) c.3327A>C (p.Lys1109Asn) c.3153A>C (p.Lys1051Asn) c.3297A>C (p.Lys1099Asn) c.3210A>C (p.Lys1070Asn) c.3018A>C (p.Lys1006Asn) c.2793A>C (p.Lys931Asn) c.2475A>C (p.Lys825Asn) c.3384A>C (p.Lys1128Asn) | |
| 13 | g.101095604T>A | CA388653396 | NALCN | c.3239A>T (p.Lys1080Ile) c.2960A>T (p.Lys987Ile) c.3326A>T (p.Lys1109Ile) c.3152A>T (p.Lys1051Ile) c.3296A>T (p.Lys1099Ile) c.3209A>T (p.Lys1070Ile) c.3017A>T (p.Lys1006Ile) c.2792A>T (p.Lys931Ile) c.2474A>T (p.Lys825Ile) c.3383A>T (p.Lys1128Ile) | |
| 13 | g.101095604T>C | CA388653397 | NALCN | c.3239A>G (p.Lys1080Arg) c.2960A>G (p.Lys987Arg) c.3326A>G (p.Lys1109Arg) c.3152A>G (p.Lys1051Arg) c.3296A>G (p.Lys1099Arg) c.3209A>G (p.Lys1070Arg) c.3017A>G (p.Lys1006Arg) c.2792A>G (p.Lys931Arg) c.2474A>G (p.Lys825Arg) c.3383A>G (p.Lys1128Arg) | |
| 13 | g.101095604T>G | CA388653399 | NALCN | c.3239A>C (p.Lys1080Thr) c.2960A>C (p.Lys987Thr) c.3326A>C (p.Lys1109Thr) c.3152A>C (p.Lys1051Thr) c.3296A>C (p.Lys1099Thr) c.3209A>C (p.Lys1070Thr) c.3017A>C (p.Lys1006Thr) c.2792A>C (p.Lys931Thr) c.2474A>C (p.Lys825Thr) c.3383A>C (p.Lys1128Thr) | |
| 13 | g.101095605T>A | CA388653401 | NALCN | c.3238A>T (p.Lys1080Ter) c.2959A>T (p.Lys987Ter) c.3325A>T (p.Lys1109Ter) c.3151A>T (p.Lys1051Ter) c.3295A>T (p.Lys1099Ter) c.3208A>T (p.Lys1070Ter) c.3016A>T (p.Lys1006Ter) c.2791A>T (p.Lys931Ter) c.2473A>T (p.Lys825Ter) c.3382A>T (p.Lys1128Ter) | |
| 13 | g.101095605T>C | CA255416174 | NALCN | c.3238A>G (p.Lys1080Glu) c.2959A>G (p.Lys987Glu) c.3325A>G (p.Lys1109Glu) c.3151A>G (p.Lys1051Glu) c.3295A>G (p.Lys1099Glu) c.3208A>G (p.Lys1070Glu) c.3016A>G (p.Lys1006Glu) c.2791A>G (p.Lys931Glu) c.2473A>G (p.Lys825Glu) c.3382A>G (p.Lys1128Glu) | ClinVar dbSNP |
| 13 | g.101095605T>G | CA388653404 | NALCN | c.3238A>C (p.Lys1080Gln) c.2959A>C (p.Lys987Gln) c.3325A>C (p.Lys1109Gln) c.3151A>C (p.Lys1051Gln) c.3295A>C (p.Lys1099Gln) c.3208A>C (p.Lys1070Gln) c.3016A>C (p.Lys1006Gln) c.2791A>C (p.Lys931Gln) c.2473A>C (p.Lys825Gln) c.3382A>C (p.Lys1128Gln) | |
| 13 | g.101095605T= | CA2114394805 | NALCN | c.3238A= (p.Lys1080=) c.2959A= (p.Lys987=) c.3325A= (p.Lys1109=) c.3151A= (p.Lys1051=) c.3295A= (p.Lys1099=) c.3208A= (p.Lys1070=) c.3016A= (p.Lys1006=) c.2791A= (p.Lys931=) c.2473A= (p.Lys825=) c.3382A= (p.Lys1128=) | |
| 13 | g.101095606C>A | CA388653407 | NALCN | c.3237G>T (p.Glu1079Asp) c.2958G>T (p.Glu986Asp) c.3324G>T (p.Glu1108Asp) c.3150G>T (p.Glu1050Asp) c.3294G>T (p.Glu1098Asp) c.3207G>T (p.Glu1069Asp) c.3015G>T (p.Glu1005Asp) c.2790G>T (p.Glu930Asp) c.2472G>T (p.Glu824Asp) c.3381G>T (p.Glu1127Asp) | gnomAD v4 |
| 13 | g.101095606C= | CA2114394806 | NALCN | c.3237G= (p.Glu1079=) c.2958G= (p.Glu986=) c.3324G= (p.Glu1108=) c.3150G= (p.Glu1050=) c.3294G= (p.Glu1098=) c.3207G= (p.Glu1069=) c.3015G= (p.Glu1005=) c.2790G= (p.Glu930=) c.2472G= (p.Glu824=) c.3381G= (p.Glu1127=) | |
| 13 | g.101095606C>G | CA388653405 | NALCN | c.3237G>C (p.Glu1079Asp) c.2958G>C (p.Glu986Asp) c.3324G>C (p.Glu1108Asp) c.3150G>C (p.Glu1050Asp) c.3294G>C (p.Glu1098Asp) c.3207G>C (p.Glu1069Asp) c.3015G>C (p.Glu1005Asp) c.2790G>C (p.Glu930Asp) c.2472G>C (p.Glu824Asp) c.3381G>C (p.Glu1127Asp) | dbSNP |
| 13 | g.101095606C>T | CA484554197 | NALCN | c.3237G>A (p.Glu1079=) c.2958G>A (p.Glu986=) c.3324G>A (p.Glu1108=) c.3150G>A (p.Glu1050=) c.3294G>A (p.Glu1098=) c.3207G>A (p.Glu1069=) c.3015G>A (p.Glu1005=) c.2790G>A (p.Glu930=) c.2472G>A (p.Glu824=) c.3381G>A (p.Glu1127=) | gnomAD v4 |
| 13 | g.101095607T>A | CA388653410 | NALCN | c.3236A>T (p.Glu1079Val) c.2957A>T (p.Glu986Val) c.3323A>T (p.Glu1108Val) c.3149A>T (p.Glu1050Val) c.3293A>T (p.Glu1098Val) c.3206A>T (p.Glu1069Val) c.3014A>T (p.Glu1005Val) c.2789A>T (p.Glu930Val) c.2471A>T (p.Glu824Val) c.3380A>T (p.Glu1127Val) | |
| 13 | g.101095607T>C | CA388653411 | NALCN | c.3236A>G (p.Glu1079Gly) c.2957A>G (p.Glu986Gly) c.3323A>G (p.Glu1108Gly) c.3149A>G (p.Glu1050Gly) c.3293A>G (p.Glu1098Gly) c.3206A>G (p.Glu1069Gly) c.3014A>G (p.Glu1005Gly) c.2789A>G (p.Glu930Gly) c.2471A>G (p.Glu824Gly) c.3380A>G (p.Glu1127Gly) | |
| 13 | g.101095607T>G | CA388653413 | NALCN | c.3236A>C (p.Glu1079Ala) c.2957A>C (p.Glu986Ala) c.3323A>C (p.Glu1108Ala) c.3149A>C (p.Glu1050Ala) c.3293A>C (p.Glu1098Ala) c.3206A>C (p.Glu1069Ala) c.3014A>C (p.Glu1005Ala) c.2789A>C (p.Glu930Ala) c.2471A>C (p.Glu824Ala) c.3380A>C (p.Glu1127Ala) | |
| 13 | g.101095608C>A | CA388653416 | NALCN | c.3235G>T (p.Glu1079Ter) c.2956G>T (p.Glu986Ter) c.3322G>T (p.Glu1108Ter) c.3148G>T (p.Glu1050Ter) c.3292G>T (p.Glu1098Ter) c.3205G>T (p.Glu1069Ter) c.3013G>T (p.Glu1005Ter) c.2788G>T (p.Glu930Ter) c.2470G>T (p.Glu824Ter) c.3379G>T (p.Glu1127Ter) | |
| 13 | g.101095608C>G | CA388653417 | NALCN | c.3235G>C (p.Glu1079Gln) c.2956G>C (p.Glu986Gln) c.3322G>C (p.Glu1108Gln) c.3148G>C (p.Glu1050Gln) c.3292G>C (p.Glu1098Gln) c.3205G>C (p.Glu1069Gln) c.3013G>C (p.Glu1005Gln) c.2788G>C (p.Glu930Gln) c.2470G>C (p.Glu824Gln) c.3379G>C (p.Glu1127Gln) | |
| 13 | g.101095608C>T | CA388653419 | NALCN | c.3235G>A (p.Glu1079Lys) c.2956G>A (p.Glu986Lys) c.3322G>A (p.Glu1108Lys) c.3148G>A (p.Glu1050Lys) c.3292G>A (p.Glu1098Lys) c.3205G>A (p.Glu1069Lys) c.3013G>A (p.Glu1005Lys) c.2788G>A (p.Glu930Lys) c.2470G>A (p.Glu824Lys) c.3379G>A (p.Glu1127Lys) | |
| 13 | g.101095609T>A | CA484554208 | NALCN | c.3234A>T (p.Gly1078=) c.2955A>T (p.Gly985=) c.3321A>T (p.Gly1107=) c.3147A>T (p.Gly1049=) c.3291A>T (p.Gly1097=) c.3204A>T (p.Gly1068=) c.3012A>T (p.Gly1004=) c.2787A>T (p.Gly929=) c.2469A>T (p.Gly823=) c.3378A>T (p.Gly1126=) | |
| 13 | g.101095609T>C | CA484554209 | NALCN | c.3234A>G (p.Gly1078=) c.2955A>G (p.Gly985=) c.3321A>G (p.Gly1107=) c.3147A>G (p.Gly1049=) c.3291A>G (p.Gly1097=) c.3204A>G (p.Gly1068=) c.3012A>G (p.Gly1004=) c.2787A>G (p.Gly929=) c.2469A>G (p.Gly823=) c.3378A>G (p.Gly1126=) | |
| 13 | g.101095609T>G | CA484554211 | NALCN | c.3234A>C (p.Gly1078=) c.2955A>C (p.Gly985=) c.3321A>C (p.Gly1107=) c.3147A>C (p.Gly1049=) c.3291A>C (p.Gly1097=) c.3204A>C (p.Gly1068=) c.3012A>C (p.Gly1004=) c.2787A>C (p.Gly929=) c.2469A>C (p.Gly823=) c.3378A>C (p.Gly1126=) | |
| 13 | g.101095610C>A | CA388653421 | NALCN | c.3233G>T (p.Gly1078Val) c.2954G>T (p.Gly985Val) c.3320G>T (p.Gly1107Val) c.3146G>T (p.Gly1049Val) c.3290G>T (p.Gly1097Val) c.3203G>T (p.Gly1068Val) c.3011G>T (p.Gly1004Val) c.2786G>T (p.Gly929Val) c.2468G>T (p.Gly823Val) c.3377G>T (p.Gly1126Val) | |
| 13 | g.101095610C= | CA2114394807 | NALCN | c.3233G= (p.Gly1078=) c.2954G= (p.Gly985=) c.3320G= (p.Gly1107=) c.3146G= (p.Gly1049=) c.3290G= (p.Gly1097=) c.3203G= (p.Gly1068=) c.3011G= (p.Gly1004=) c.2786G= (p.Gly929=) c.2468G= (p.Gly823=) c.3377G= (p.Gly1126=) | |
| 13 | g.101095610C>G | CA388653424 | NALCN | c.3233G>C (p.Gly1078Ala) c.2954G>C (p.Gly985Ala) c.3320G>C (p.Gly1107Ala) c.3146G>C (p.Gly1049Ala) c.3290G>C (p.Gly1097Ala) c.3203G>C (p.Gly1068Ala) c.3011G>C (p.Gly1004Ala) c.2786G>C (p.Gly929Ala) c.2468G>C (p.Gly823Ala) c.3377G>C (p.Gly1126Ala) | |
| 13 | g.101095610C>T | CA255416183 | NALCN | c.3233G>A (p.Gly1078Glu) c.2954G>A (p.Gly985Glu) c.3320G>A (p.Gly1107Glu) c.3146G>A (p.Gly1049Glu) c.3290G>A (p.Gly1097Glu) c.3203G>A (p.Gly1068Glu) c.3011G>A (p.Gly1004Glu) c.2786G>A (p.Gly929Glu) c.2468G>A (p.Gly823Glu) c.3377G>A (p.Gly1126Glu) | dbSNP |
| 13 | g.101095611C>A | CA388653426 | NALCN | c.3232G>T (p.Gly1078Ter) c.2953G>T (p.Gly985Ter) c.3319G>T (p.Gly1107Ter) c.3145G>T (p.Gly1049Ter) c.3289G>T (p.Gly1097Ter) c.3202G>T (p.Gly1068Ter) c.3010G>T (p.Gly1004Ter) c.2785G>T (p.Gly929Ter) c.2467G>T (p.Gly823Ter) c.3376G>T (p.Gly1126Ter) | |
| 13 | g.101095611C= | CA2114394808 | NALCN | c.3232G= (p.Gly1078=) c.2953G= (p.Gly985=) c.3319G= (p.Gly1107=) c.3145G= (p.Gly1049=) c.3289G= (p.Gly1097=) c.3202G= (p.Gly1068=) c.3010G= (p.Gly1004=) c.2785G= (p.Gly929=) c.2467G= (p.Gly823=) c.3376G= (p.Gly1126=) | |
| 13 | g.101095611C>G | CA7035461 | NALCN | c.3232G>C (p.Gly1078Arg) c.2953G>C (p.Gly985Arg) c.3319G>C (p.Gly1107Arg) c.3145G>C (p.Gly1049Arg) c.3289G>C (p.Gly1097Arg) c.3202G>C (p.Gly1068Arg) c.3010G>C (p.Gly1004Arg) c.2785G>C (p.Gly929Arg) c.2467G>C (p.Gly823Arg) c.3376G>C (p.Gly1126Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101095611C>T | CA388653428 | NALCN | c.3232G>A (p.Gly1078Arg) c.2953G>A (p.Gly985Arg) c.3319G>A (p.Gly1107Arg) c.3145G>A (p.Gly1049Arg) c.3289G>A (p.Gly1097Arg) c.3202G>A (p.Gly1068Arg) c.3010G>A (p.Gly1004Arg) c.2785G>A (p.Gly929Arg) c.2467G>A (p.Gly823Arg) c.3376G>A (p.Gly1126Arg) | gnomAD v4 |
| 13 | g.101095612A= | CA2114394809 | NALCN | c.3231T= (p.Pro1077=) c.2952T= (p.Pro984=) c.3318T= (p.Pro1106=) c.3144T= (p.Pro1048=) c.3288T= (p.Pro1096=) c.3201T= (p.Pro1067=) c.3009T= (p.Pro1003=) c.2784T= (p.Pro928=) c.2466T= (p.Pro822=) c.3375T= (p.Pro1125=) | |
| 13 | g.101095612A>C | CA484554223 | NALCN | c.3231T>G (p.Pro1077=) c.2952T>G (p.Pro984=) c.3318T>G (p.Pro1106=) c.3144T>G (p.Pro1048=) c.3288T>G (p.Pro1096=) c.3201T>G (p.Pro1067=) c.3009T>G (p.Pro1003=) c.2784T>G (p.Pro928=) c.2466T>G (p.Pro822=) c.3375T>G (p.Pro1125=) | |
| 13 | g.101095612A>G | CA484554222 | NALCN | c.3231T>C (p.Pro1077=) c.2952T>C (p.Pro984=) c.3318T>C (p.Pro1106=) c.3144T>C (p.Pro1048=) c.3288T>C (p.Pro1096=) c.3201T>C (p.Pro1067=) c.3009T>C (p.Pro1003=) c.2784T>C (p.Pro928=) c.2466T>C (p.Pro822=) c.3375T>C (p.Pro1125=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.101095612A>T | CA484554220 | NALCN | c.3231T>A (p.Pro1077=) c.2952T>A (p.Pro984=) c.3318T>A (p.Pro1106=) c.3144T>A (p.Pro1048=) c.3288T>A (p.Pro1096=) c.3201T>A (p.Pro1067=) c.3009T>A (p.Pro1003=) c.2784T>A (p.Pro928=) c.2466T>A (p.Pro822=) c.3375T>A (p.Pro1125=) | |
| 13 | g.101095613G>A | CA388653430 | NALCN | c.3230C>T (p.Pro1077Leu) c.2951C>T (p.Pro984Leu) c.3317C>T (p.Pro1106Leu) c.3143C>T (p.Pro1048Leu) c.3287C>T (p.Pro1096Leu) c.3200C>T (p.Pro1067Leu) c.3008C>T (p.Pro1003Leu) c.2783C>T (p.Pro928Leu) c.2465C>T (p.Pro822Leu) c.3374C>T (p.Pro1125Leu) | |
| 13 | g.101095613G>C | CA255416207 | NALCN | c.3230C>G (p.Pro1077Arg) c.2951C>G (p.Pro984Arg) c.3317C>G (p.Pro1106Arg) c.3143C>G (p.Pro1048Arg) c.3287C>G (p.Pro1096Arg) c.3200C>G (p.Pro1067Arg) c.3008C>G (p.Pro1003Arg) c.2783C>G (p.Pro928Arg) c.2465C>G (p.Pro822Arg) c.3374C>G (p.Pro1125Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101095613G= | CA2114394810 | NALCN | c.3230C= (p.Pro1077=) c.2951C= (p.Pro984=) c.3317C= (p.Pro1106=) c.3143C= (p.Pro1048=) c.3287C= (p.Pro1096=) c.3200C= (p.Pro1067=) c.3008C= (p.Pro1003=) c.2783C= (p.Pro928=) c.2465C= (p.Pro822=) c.3374C= (p.Pro1125=) | |
| 13 | g.101095613G>T | CA388653433 | NALCN | c.3230C>A (p.Pro1077His) c.2951C>A (p.Pro984His) c.3317C>A (p.Pro1106His) c.3143C>A (p.Pro1048His) c.3287C>A (p.Pro1096His) c.3200C>A (p.Pro1067His) c.3008C>A (p.Pro1003His) c.2783C>A (p.Pro928His) c.2465C>A (p.Pro822His) c.3374C>A (p.Pro1125His) | |
| 13 | g.101095614G>A | CA388653435 | NALCN | c.3229C>T (p.Pro1077Ser) c.2950C>T (p.Pro984Ser) c.3316C>T (p.Pro1106Ser) c.3142C>T (p.Pro1048Ser) c.3286C>T (p.Pro1096Ser) c.3199C>T (p.Pro1067Ser) c.3007C>T (p.Pro1003Ser) c.2782C>T (p.Pro928Ser) c.2464C>T (p.Pro822Ser) c.3373C>T (p.Pro1125Ser) | ClinVar dbSNP gnomAD v4 |
| 13 | g.101095614G>C | CA7035462 | NALCN | c.3229C>G (p.Pro1077Ala) c.2950C>G (p.Pro984Ala) c.3316C>G (p.Pro1106Ala) c.3142C>G (p.Pro1048Ala) c.3286C>G (p.Pro1096Ala) c.3199C>G (p.Pro1067Ala) c.3007C>G (p.Pro1003Ala) c.2782C>G (p.Pro928Ala) c.2464C>G (p.Pro822Ala) c.3373C>G (p.Pro1125Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101095614G= | CA2114394811 | NALCN | c.3229C= (p.Pro1077=) c.2950C= (p.Pro984=) c.3316C= (p.Pro1106=) c.3142C= (p.Pro1048=) c.3286C= (p.Pro1096=) c.3199C= (p.Pro1067=) c.3007C= (p.Pro1003=) c.2782C= (p.Pro928=) c.2464C= (p.Pro822=) c.3373C= (p.Pro1125=) | |
| 13 | g.101095614G>T | CA388653438 | NALCN | c.3229C>A (p.Pro1077Thr) c.2950C>A (p.Pro984Thr) c.3316C>A (p.Pro1106Thr) c.3142C>A (p.Pro1048Thr) c.3286C>A (p.Pro1096Thr) c.3199C>A (p.Pro1067Thr) c.3007C>A (p.Pro1003Thr) c.2782C>A (p.Pro928Thr) c.2464C>A (p.Pro822Thr) c.3373C>A (p.Pro1125Thr) | gnomAD v4 |
| 13 | g.101095615C>A | CA388653440 | NALCN | c.3228G>T (p.Arg1076Ser) c.2949G>T (p.Arg983Ser) c.3315G>T (p.Arg1105Ser) c.3141G>T (p.Arg1047Ser) c.3285G>T (p.Arg1095Ser) c.3198G>T (p.Arg1066Ser) c.3006G>T (p.Arg1002Ser) c.2781G>T (p.Arg927Ser) c.2463G>T (p.Arg821Ser) c.3372G>T (p.Arg1124Ser) | |
| 13 | g.101095615C>G | CA388653441 | NALCN | c.3228G>C (p.Arg1076Ser) c.2949G>C (p.Arg983Ser) c.3315G>C (p.Arg1105Ser) c.3141G>C (p.Arg1047Ser) c.3285G>C (p.Arg1095Ser) c.3198G>C (p.Arg1066Ser) c.3006G>C (p.Arg1002Ser) c.2781G>C (p.Arg927Ser) c.2463G>C (p.Arg821Ser) c.3372G>C (p.Arg1124Ser) | gnomAD v4 |
| 13 | g.101095615C>T | CA484554232 | NALCN | c.3228G>A (p.Arg1076=) c.2949G>A (p.Arg983=) c.3315G>A (p.Arg1105=) c.3141G>A (p.Arg1047=) c.3285G>A (p.Arg1095=) c.3198G>A (p.Arg1066=) c.3006G>A (p.Arg1002=) c.2781G>A (p.Arg927=) c.2463G>A (p.Arg821=) c.3372G>A (p.Arg1124=) | gnomAD v4 |
| 13 | g.101095616C>A | CA388653443 | NALCN | c.3227G>T (p.Arg1076Met) c.2948G>T (p.Arg983Met) c.3314G>T (p.Arg1105Met) c.3140G>T (p.Arg1047Met) c.3284G>T (p.Arg1095Met) c.3197G>T (p.Arg1066Met) c.3005G>T (p.Arg1002Met) c.2780G>T (p.Arg927Met) c.2462G>T (p.Arg821Met) c.3371G>T (p.Arg1124Met) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.101095616C= | CA2114394812 | NALCN | c.3227G= (p.Arg1076=) c.2948G= (p.Arg983=) c.3314G= (p.Arg1105=) c.3140G= (p.Arg1047=) c.3284G= (p.Arg1095=) c.3197G= (p.Arg1066=) c.3005G= (p.Arg1002=) c.2780G= (p.Arg927=) c.2462G= (p.Arg821=) c.3371G= (p.Arg1124=) | |
| 13 | g.101095616C>G | CA388653445 | NALCN | c.3227G>C (p.Arg1076Thr) c.2948G>C (p.Arg983Thr) c.3314G>C (p.Arg1105Thr) c.3140G>C (p.Arg1047Thr) c.3284G>C (p.Arg1095Thr) c.3197G>C (p.Arg1066Thr) c.3005G>C (p.Arg1002Thr) c.2780G>C (p.Arg927Thr) c.2462G>C (p.Arg821Thr) c.3371G>C (p.Arg1124Thr) | |
| 13 | g.101095616C>T | CA388653447 | NALCN | c.3227G>A (p.Arg1076Lys) c.2948G>A (p.Arg983Lys) c.3314G>A (p.Arg1105Lys) c.3140G>A (p.Arg1047Lys) c.3284G>A (p.Arg1095Lys) c.3197G>A (p.Arg1066Lys) c.3005G>A (p.Arg1002Lys) c.2780G>A (p.Arg927Lys) c.2462G>A (p.Arg821Lys) c.3371G>A (p.Arg1124Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.101095617T>A | CA388653449 | NALCN | c.3226A>T (p.Arg1076Trp) c.2947A>T (p.Arg983Trp) c.3313A>T (p.Arg1105Trp) c.3139A>T (p.Arg1047Trp) c.3283A>T (p.Arg1095Trp) c.3196A>T (p.Arg1066Trp) c.3004A>T (p.Arg1002Trp) c.2779A>T (p.Arg927Trp) c.2461A>T (p.Arg821Trp) c.3370A>T (p.Arg1124Trp) | |
| 13 | g.101095617T>C | CA388653450 | NALCN | c.3226A>G (p.Arg1076Gly) c.2947A>G (p.Arg983Gly) c.3313A>G (p.Arg1105Gly) c.3139A>G (p.Arg1047Gly) c.3283A>G (p.Arg1095Gly) c.3196A>G (p.Arg1066Gly) c.3004A>G (p.Arg1002Gly) c.2779A>G (p.Arg927Gly) c.2461A>G (p.Arg821Gly) c.3370A>G (p.Arg1124Gly) | |
| 13 | g.101095617T>G | CA484554238 | NALCN | c.3226A>C (p.Arg1076=) c.2947A>C (p.Arg983=) c.3313A>C (p.Arg1105=) c.3139A>C (p.Arg1047=) c.3283A>C (p.Arg1095=) c.3196A>C (p.Arg1066=) c.3004A>C (p.Arg1002=) c.2779A>C (p.Arg927=) c.2461A>C (p.Arg821=) c.3370A>C (p.Arg1124=) | |
| 13 | g.101095618C>A | CA388653452 | NALCN | c.3225G>T (p.Leu1075Phe) c.2946G>T (p.Leu982Phe) c.3312G>T (p.Leu1104Phe) c.3138G>T (p.Leu1046Phe) c.3282G>T (p.Leu1094Phe) c.3195G>T (p.Leu1065Phe) c.3003G>T (p.Leu1001Phe) c.2778G>T (p.Leu926Phe) c.2460G>T (p.Leu820Phe) c.3369G>T (p.Leu1123Phe) | |
| 13 | g.101095618C= | CA2114394813 | NALCN | c.3225G= (p.Leu1075=) c.2946G= (p.Leu982=) c.3312G= (p.Leu1104=) c.3138G= (p.Leu1046=) c.3282G= (p.Leu1094=) c.3195G= (p.Leu1065=) c.3003G= (p.Leu1001=) c.2778G= (p.Leu926=) c.2460G= (p.Leu820=) c.3369G= (p.Leu1123=) | |
| 13 | g.101095618C>G | CA388653453 | NALCN | c.3225G>C (p.Leu1075Phe) c.2946G>C (p.Leu982Phe) c.3312G>C (p.Leu1104Phe) c.3138G>C (p.Leu1046Phe) c.3282G>C (p.Leu1094Phe) c.3195G>C (p.Leu1065Phe) c.3003G>C (p.Leu1001Phe) c.2778G>C (p.Leu926Phe) c.2460G>C (p.Leu820Phe) c.3369G>C (p.Leu1123Phe) | |
| 13 | g.101095618C>T | CA484554243 | NALCN | c.3225G>A (p.Leu1075=) c.2946G>A (p.Leu982=) c.3312G>A (p.Leu1104=) c.3138G>A (p.Leu1046=) c.3282G>A (p.Leu1094=) c.3195G>A (p.Leu1065=) c.3003G>A (p.Leu1001=) c.2778G>A (p.Leu926=) c.2460G>A (p.Leu820=) c.3369G>A (p.Leu1123=) | dbSNP gnomAD v4 |
| 13 | g.101095619A>C | CA388653456 | NALCN | c.3224T>G (p.Leu1075Trp) c.2945T>G (p.Leu982Trp) c.3311T>G (p.Leu1104Trp) c.3137T>G (p.Leu1046Trp) c.3281T>G (p.Leu1094Trp) c.3194T>G (p.Leu1065Trp) c.3002T>G (p.Leu1001Trp) c.2777T>G (p.Leu926Trp) c.2459T>G (p.Leu820Trp) c.3368T>G (p.Leu1123Trp) | |
| 13 | g.101095619A>G | CA388653457 | NALCN | c.3224T>C (p.Leu1075Ser) c.2945T>C (p.Leu982Ser) c.3311T>C (p.Leu1104Ser) c.3137T>C (p.Leu1046Ser) c.3281T>C (p.Leu1094Ser) c.3194T>C (p.Leu1065Ser) c.3002T>C (p.Leu1001Ser) c.2777T>C (p.Leu926Ser) c.2459T>C (p.Leu820Ser) c.3368T>C (p.Leu1123Ser) | gnomAD v4 |
| 13 | g.101095619A>T | CA388653458 | NALCN | c.3224T>A (p.Leu1075Ter) c.2945T>A (p.Leu982Ter) c.3311T>A (p.Leu1104Ter) c.3137T>A (p.Leu1046Ter) c.3281T>A (p.Leu1094Ter) c.3194T>A (p.Leu1065Ter) c.3002T>A (p.Leu1001Ter) c.2777T>A (p.Leu926Ter) c.2459T>A (p.Leu820Ter) c.3368T>A (p.Leu1123Ter) | |
| 13 | g.101095620A= | CA2114394814 | NALCN | c.3223T= (p.Leu1075=) c.2944T= (p.Leu982=) c.3310T= (p.Leu1104=) c.3136T= (p.Leu1046=) c.3280T= (p.Leu1094=) c.3193T= (p.Leu1065=) c.3001T= (p.Leu1001=) c.2776T= (p.Leu926=) c.2458T= (p.Leu820=) c.3367T= (p.Leu1123=) | |
| 13 | g.101095620A>C | CA7035463 | NALCN | c.3223T>G (p.Leu1075Val) c.2944T>G (p.Leu982Val) c.3310T>G (p.Leu1104Val) c.3136T>G (p.Leu1046Val) c.3280T>G (p.Leu1094Val) c.3193T>G (p.Leu1065Val) c.3001T>G (p.Leu1001Val) c.2776T>G (p.Leu926Val) c.2458T>G (p.Leu820Val) c.3367T>G (p.Leu1123Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101095620A>G | CA484554249 | NALCN | c.3223T>C (p.Leu1075=) c.2944T>C (p.Leu982=) c.3310T>C (p.Leu1104=) c.3136T>C (p.Leu1046=) c.3280T>C (p.Leu1094=) c.3193T>C (p.Leu1065=) c.3001T>C (p.Leu1001=) c.2776T>C (p.Leu926=) c.2458T>C (p.Leu820=) c.3367T>C (p.Leu1123=) | gnomAD v4 |
| 13 | g.101095620A>T | CA388653461 | NALCN | c.3223T>A (p.Leu1075Met) c.2944T>A (p.Leu982Met) c.3310T>A (p.Leu1104Met) c.3136T>A (p.Leu1046Met) c.3280T>A (p.Leu1094Met) c.3193T>A (p.Leu1065Met) c.3001T>A (p.Leu1001Met) c.2776T>A (p.Leu926Met) c.2458T>A (p.Leu820Met) c.3367T>A (p.Leu1123Met) | |
| 13 | g.101095621T>A | CA388653463 | NALCN | c.3222A>T (p.Lys1074Asn) c.2943A>T (p.Lys981Asn) c.3309A>T (p.Lys1103Asn) c.3135A>T (p.Lys1045Asn) c.3279A>T (p.Lys1093Asn) c.3192A>T (p.Lys1064Asn) c.3000A>T (p.Lys1000Asn) c.2775A>T (p.Lys925Asn) c.2457A>T (p.Lys819Asn) c.3366A>T (p.Lys1122Asn) | dbSNP |
| 13 | g.101095621T>C | CA484554253 | NALCN | c.3222A>G (p.Lys1074=) c.2943A>G (p.Lys981=) c.3309A>G (p.Lys1103=) c.3135A>G (p.Lys1045=) c.3279A>G (p.Lys1093=) c.3192A>G (p.Lys1064=) c.3000A>G (p.Lys1000=) c.2775A>G (p.Lys925=) c.2457A>G (p.Lys819=) c.3366A>G (p.Lys1122=) | |
| 13 | g.101095621T>G | CA388653464 | NALCN | c.3222A>C (p.Lys1074Asn) c.2943A>C (p.Lys981Asn) c.3309A>C (p.Lys1103Asn) c.3135A>C (p.Lys1045Asn) c.3279A>C (p.Lys1093Asn) c.3192A>C (p.Lys1064Asn) c.3000A>C (p.Lys1000Asn) c.2775A>C (p.Lys925Asn) c.2457A>C (p.Lys819Asn) c.3366A>C (p.Lys1122Asn) | |
| 13 | g.101095621T= | CA2114394815 | NALCN | c.3222A= (p.Lys1074=) c.2943A= (p.Lys981=) c.3309A= (p.Lys1103=) c.3135A= (p.Lys1045=) c.3279A= (p.Lys1093=) c.3192A= (p.Lys1064=) c.3000A= (p.Lys1000=) c.2775A= (p.Lys925=) c.2457A= (p.Lys819=) c.3366A= (p.Lys1122=) | |
| 13 | g.101095622T>A | CA388653467 | NALCN | c.3221A>T (p.Lys1074Ile) c.2942A>T (p.Lys981Ile) c.3308A>T (p.Lys1103Ile) c.3134A>T (p.Lys1045Ile) c.3278A>T (p.Lys1093Ile) c.3191A>T (p.Lys1064Ile) c.2999A>T (p.Lys1000Ile) c.2774A>T (p.Lys925Ile) c.2456A>T (p.Lys819Ile) c.3365A>T (p.Lys1122Ile) | |
| 13 | g.101095622T>C | CA388653469 | NALCN | c.3221A>G (p.Lys1074Arg) c.2942A>G (p.Lys981Arg) c.3308A>G (p.Lys1103Arg) c.3134A>G (p.Lys1045Arg) c.3278A>G (p.Lys1093Arg) c.3191A>G (p.Lys1064Arg) c.2999A>G (p.Lys1000Arg) c.2774A>G (p.Lys925Arg) c.2456A>G (p.Lys819Arg) c.3365A>G (p.Lys1122Arg) | |
| 13 | g.101095622T>G | CA388653471 | NALCN | c.3221A>C (p.Lys1074Thr) c.2942A>C (p.Lys981Thr) c.3308A>C (p.Lys1103Thr) c.3134A>C (p.Lys1045Thr) c.3278A>C (p.Lys1093Thr) c.3191A>C (p.Lys1064Thr) c.2999A>C (p.Lys1000Thr) c.2774A>C (p.Lys925Thr) c.2456A>C (p.Lys819Thr) c.3365A>C (p.Lys1122Thr) | |
| 13 | g.101095623T>A | CA388653476 | NALCN | c.3220A>T (p.Lys1074Ter) c.2941A>T (p.Lys981Ter) c.3307A>T (p.Lys1103Ter) c.3133A>T (p.Lys1045Ter) c.3277A>T (p.Lys1093Ter) c.3190A>T (p.Lys1064Ter) c.2998A>T (p.Lys1000Ter) c.2773A>T (p.Lys925Ter) c.2455A>T (p.Lys819Ter) c.3364A>T (p.Lys1122Ter) | |
| 13 | g.101095623T>C | CA388653472 | NALCN | c.3220A>G (p.Lys1074Glu) c.2941A>G (p.Lys981Glu) c.3307A>G (p.Lys1103Glu) c.3133A>G (p.Lys1045Glu) c.3277A>G (p.Lys1093Glu) c.3190A>G (p.Lys1064Glu) c.2998A>G (p.Lys1000Glu) c.2773A>G (p.Lys925Glu) c.2455A>G (p.Lys819Glu) c.3364A>G (p.Lys1122Glu) | |
| 13 | g.101095623T>G | CA388653474 | NALCN | c.3220A>C (p.Lys1074Gln) c.2941A>C (p.Lys981Gln) c.3307A>C (p.Lys1103Gln) c.3133A>C (p.Lys1045Gln) c.3277A>C (p.Lys1093Gln) c.3190A>C (p.Lys1064Gln) c.2998A>C (p.Lys1000Gln) c.2773A>C (p.Lys925Gln) c.2455A>C (p.Lys819Gln) c.3364A>C (p.Lys1122Gln) | |
| 13 | g.101095624T>A | CA388653478 | NALCN | c.3219A>T (p.Leu1073Phe) c.2940A>T (p.Leu980Phe) c.3306A>T (p.Leu1102Phe) c.3132A>T (p.Leu1044Phe) c.3276A>T (p.Leu1092Phe) c.3189A>T (p.Leu1063Phe) c.2997A>T (p.Leu999Phe) c.2772A>T (p.Leu924Phe) c.2454A>T (p.Leu818Phe) c.3363A>T (p.Leu1121Phe) | |
| 13 | g.101095624T>C | CA484554262 | NALCN | c.3219A>G (p.Leu1073=) c.2940A>G (p.Leu980=) c.3306A>G (p.Leu1102=) c.3132A>G (p.Leu1044=) c.3276A>G (p.Leu1092=) c.3189A>G (p.Leu1063=) c.2997A>G (p.Leu999=) c.2772A>G (p.Leu924=) c.2454A>G (p.Leu818=) c.3363A>G (p.Leu1121=) | |
| 13 | g.101095624T>G | CA388653480 | NALCN | c.3219A>C (p.Leu1073Phe) c.2940A>C (p.Leu980Phe) c.3306A>C (p.Leu1102Phe) c.3132A>C (p.Leu1044Phe) c.3276A>C (p.Leu1092Phe) c.3189A>C (p.Leu1063Phe) c.2997A>C (p.Leu999Phe) c.2772A>C (p.Leu924Phe) c.2454A>C (p.Leu818Phe) c.3363A>C (p.Leu1121Phe) | |
| 13 | g.101095625A>C | CA388653482 | NALCN | c.3218T>G (p.Leu1073Ter) c.2939T>G (p.Leu980Ter) c.3305T>G (p.Leu1102Ter) c.3131T>G (p.Leu1044Ter) c.3275T>G (p.Leu1092Ter) c.3188T>G (p.Leu1063Ter) c.2996T>G (p.Leu999Ter) c.2771T>G (p.Leu924Ter) c.2453T>G (p.Leu818Ter) c.3362T>G (p.Leu1121Ter) | |
| 13 | g.101095625A>G | CA388653484 | NALCN | c.3218T>C (p.Leu1073Ser) c.2939T>C (p.Leu980Ser) c.3305T>C (p.Leu1102Ser) c.3131T>C (p.Leu1044Ser) c.3275T>C (p.Leu1092Ser) c.3188T>C (p.Leu1063Ser) c.2996T>C (p.Leu999Ser) c.2771T>C (p.Leu924Ser) c.2453T>C (p.Leu818Ser) c.3362T>C (p.Leu1121Ser) | |
| 13 | g.101095625A>T | CA388653485 | NALCN | c.3218T>A (p.Leu1073Ter) c.2939T>A (p.Leu980Ter) c.3305T>A (p.Leu1102Ter) c.3131T>A (p.Leu1044Ter) c.3275T>A (p.Leu1092Ter) c.3188T>A (p.Leu1063Ter) c.2996T>A (p.Leu999Ter) c.2771T>A (p.Leu924Ter) c.2453T>A (p.Leu818Ter) c.3362T>A (p.Leu1121Ter) | |
| 13 | g.101095626A>C | CA388653488 | NALCN | c.3217T>G (p.Leu1073Val) c.2938T>G (p.Leu980Val) c.3304T>G (p.Leu1102Val) c.3130T>G (p.Leu1044Val) c.3274T>G (p.Leu1092Val) c.3187T>G (p.Leu1063Val) c.2995T>G (p.Leu999Val) c.2770T>G (p.Leu924Val) c.2452T>G (p.Leu818Val) c.3361T>G (p.Leu1121Val) | |
| 13 | g.101095626A>G | CA484554268 | NALCN | c.3217T>C (p.Leu1073=) c.2938T>C (p.Leu980=) c.3304T>C (p.Leu1102=) c.3130T>C (p.Leu1044=) c.3274T>C (p.Leu1092=) c.3187T>C (p.Leu1063=) c.2995T>C (p.Leu999=) c.2770T>C (p.Leu924=) c.2452T>C (p.Leu818=) c.3361T>C (p.Leu1121=) | |
| 13 | g.101095626A>T | CA388653490 | NALCN | c.3217T>A (p.Leu1073Ile) c.2938T>A (p.Leu980Ile) c.3304T>A (p.Leu1102Ile) c.3130T>A (p.Leu1044Ile) c.3274T>A (p.Leu1092Ile) c.3187T>A (p.Leu1063Ile) c.2995T>A (p.Leu999Ile) c.2770T>A (p.Leu924Ile) c.2452T>A (p.Leu818Ile) c.3361T>A (p.Leu1121Ile) | |
| 13 | g.101095627A>C | CA388653494 | NALCN | c.3216T>G (p.Asn1072Lys) c.2937T>G (p.Asn979Lys) c.3303T>G (p.Asn1101Lys) c.3129T>G (p.Asn1043Lys) c.3273T>G (p.Asn1091Lys) c.3186T>G (p.Asn1062Lys) c.2994T>G (p.Asn998Lys) c.2769T>G (p.Asn923Lys) c.2451T>G (p.Asn817Lys) c.3360T>G (p.Asn1120Lys) | |
| 13 | g.101095627A>G | CA484554272 | NALCN | c.3216T>C (p.Asn1072=) c.2937T>C (p.Asn979=) c.3303T>C (p.Asn1101=) c.3129T>C (p.Asn1043=) c.3273T>C (p.Asn1091=) c.3186T>C (p.Asn1062=) c.2994T>C (p.Asn998=) c.2769T>C (p.Asn923=) c.2451T>C (p.Asn817=) c.3360T>C (p.Asn1120=) | |
| 13 | g.101095627A>T | CA388653492 | NALCN | c.3216T>A (p.Asn1072Lys) c.2937T>A (p.Asn979Lys) c.3303T>A (p.Asn1101Lys) c.3129T>A (p.Asn1043Lys) c.3273T>A (p.Asn1091Lys) c.3186T>A (p.Asn1062Lys) c.2994T>A (p.Asn998Lys) c.2769T>A (p.Asn923Lys) c.2451T>A (p.Asn817Lys) c.3360T>A (p.Asn1120Lys) | |
| 13 | g.101095628T>A | CA388653496 | NALCN | c.3215A>T (p.Asn1072Ile) c.2936A>T (p.Asn979Ile) c.3302A>T (p.Asn1101Ile) c.3128A>T (p.Asn1043Ile) c.3272A>T (p.Asn1091Ile) c.3185A>T (p.Asn1062Ile) c.2993A>T (p.Asn998Ile) c.2768A>T (p.Asn923Ile) c.2450A>T (p.Asn817Ile) c.3359A>T (p.Asn1120Ile) | |
| 13 | g.101095628T>C | CA388653498 | NALCN | c.3215A>G (p.Asn1072Ser) c.2936A>G (p.Asn979Ser) c.3302A>G (p.Asn1101Ser) c.3128A>G (p.Asn1043Ser) c.3272A>G (p.Asn1091Ser) c.3185A>G (p.Asn1062Ser) c.2993A>G (p.Asn998Ser) c.2768A>G (p.Asn923Ser) c.2450A>G (p.Asn817Ser) c.3359A>G (p.Asn1120Ser) | |
| 13 | g.101095628T>G | CA388653500 | NALCN | c.3215A>C (p.Asn1072Thr) c.2936A>C (p.Asn979Thr) c.3302A>C (p.Asn1101Thr) c.3128A>C (p.Asn1043Thr) c.3272A>C (p.Asn1091Thr) c.3185A>C (p.Asn1062Thr) c.2993A>C (p.Asn998Thr) c.2768A>C (p.Asn923Thr) c.2450A>C (p.Asn817Thr) c.3359A>C (p.Asn1120Thr) | |
| 13 | g.101095629T>A | CA388653502 | NALCN | c.3214A>T (p.Asn1072Tyr) c.2935A>T (p.Asn979Tyr) c.3301A>T (p.Asn1101Tyr) c.3127A>T (p.Asn1043Tyr) c.3271A>T (p.Asn1091Tyr) c.3184A>T (p.Asn1062Tyr) c.2992A>T (p.Asn998Tyr) c.2767A>T (p.Asn923Tyr) c.2449A>T (p.Asn817Tyr) c.3358A>T (p.Asn1120Tyr) | |
| 13 | g.101095629T>C | CA388653504 | NALCN | c.3214A>G (p.Asn1072Asp) c.2935A>G (p.Asn979Asp) c.3301A>G (p.Asn1101Asp) c.3127A>G (p.Asn1043Asp) c.3271A>G (p.Asn1091Asp) c.3184A>G (p.Asn1062Asp) c.2992A>G (p.Asn998Asp) c.2767A>G (p.Asn923Asp) c.2449A>G (p.Asn817Asp) c.3358A>G (p.Asn1120Asp) | |
| 13 | g.101095629T>G | CA388653506 | NALCN | c.3214A>C (p.Asn1072His) c.2935A>C (p.Asn979His) c.3301A>C (p.Asn1101His) c.3127A>C (p.Asn1043His) c.3271A>C (p.Asn1091His) c.3184A>C (p.Asn1062His) c.2992A>C (p.Asn998His) c.2767A>C (p.Asn923His) c.2449A>C (p.Asn817His) c.3358A>C (p.Asn1120His) | |
| 13 | g.101095630T>A | CA388653508 | NALCN | c.3213A>T (p.Leu1071Phe) c.2934A>T (p.Leu978Phe) c.3300A>T (p.Leu1100Phe) c.3126A>T (p.Leu1042Phe) c.3270A>T (p.Leu1090Phe) c.3183A>T (p.Leu1061Phe) c.2991A>T (p.Leu997Phe) c.2766A>T (p.Leu922Phe) c.2448A>T (p.Leu816Phe) c.3357A>T (p.Leu1119Phe) | |
| 13 | g.101095630T>C | CA7035464 | NALCN | c.3213A>G (p.Leu1071=) c.2934A>G (p.Leu978=) c.3300A>G (p.Leu1100=) c.3126A>G (p.Leu1042=) c.3270A>G (p.Leu1090=) c.3183A>G (p.Leu1061=) c.2991A>G (p.Leu997=) c.2766A>G (p.Leu922=) c.2448A>G (p.Leu816=) c.3357A>G (p.Leu1119=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101095630T>G | CA388653510 | NALCN | c.3213A>C (p.Leu1071Phe) c.2934A>C (p.Leu978Phe) c.3300A>C (p.Leu1100Phe) c.3126A>C (p.Leu1042Phe) c.3270A>C (p.Leu1090Phe) c.3183A>C (p.Leu1061Phe) c.2991A>C (p.Leu997Phe) c.2766A>C (p.Leu922Phe) c.2448A>C (p.Leu816Phe) c.3357A>C (p.Leu1119Phe) | |
| 13 | g.101095630T= | CA2114394816 | NALCN | c.3213A= (p.Leu1071=) c.2934A= (p.Leu978=) c.3300A= (p.Leu1100=) c.3126A= (p.Leu1042=) c.3270A= (p.Leu1090=) c.3183A= (p.Leu1061=) c.2991A= (p.Leu997=) c.2766A= (p.Leu922=) c.2448A= (p.Leu816=) c.3357A= (p.Leu1119=) | |
| 13 | g.101095631A= | CA2114394817 | NALCN | c.3212T= (p.Leu1071=) c.2933T= (p.Leu978=) c.3299T= (p.Leu1100=) c.3125T= (p.Leu1042=) c.3269T= (p.Leu1090=) c.3182T= (p.Leu1061=) c.2990T= (p.Leu997=) c.2765T= (p.Leu922=) c.2447T= (p.Leu816=) c.3356T= (p.Leu1119=) | |
| 13 | g.101095631A>C | CA388653513 | NALCN | c.3212T>G (p.Leu1071Ter) c.2933T>G (p.Leu978Ter) c.3299T>G (p.Leu1100Ter) c.3125T>G (p.Leu1042Ter) c.3269T>G (p.Leu1090Ter) c.3182T>G (p.Leu1061Ter) c.2990T>G (p.Leu997Ter) c.2765T>G (p.Leu922Ter) c.2447T>G (p.Leu816Ter) c.3356T>G (p.Leu1119Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101095631A>G | CA388653515 | NALCN | c.3212T>C (p.Leu1071Ser) c.2933T>C (p.Leu978Ser) c.3299T>C (p.Leu1100Ser) c.3125T>C (p.Leu1042Ser) c.3269T>C (p.Leu1090Ser) c.3182T>C (p.Leu1061Ser) c.2990T>C (p.Leu997Ser) c.2765T>C (p.Leu922Ser) c.2447T>C (p.Leu816Ser) c.3356T>C (p.Leu1119Ser) | |
| 13 | g.101095631A>T | CA388653516 | NALCN | c.3212T>A (p.Leu1071Ter) c.2933T>A (p.Leu978Ter) c.3299T>A (p.Leu1100Ter) c.3125T>A (p.Leu1042Ter) c.3269T>A (p.Leu1090Ter) c.3182T>A (p.Leu1061Ter) c.2990T>A (p.Leu997Ter) c.2765T>A (p.Leu922Ter) c.2447T>A (p.Leu816Ter) c.3356T>A (p.Leu1119Ter) | |
| 13 | g.101095632A= | CA2114394818 | NALCN | c.3211T= (p.Leu1071=) c.2932T= (p.Leu978=) c.3298T= (p.Leu1100=) c.3124T= (p.Leu1042=) c.3268T= (p.Leu1090=) c.3181T= (p.Leu1061=) c.2989T= (p.Leu997=) c.2764T= (p.Leu922=) c.2446T= (p.Leu816=) c.3355T= (p.Leu1119=) | |
| 13 | g.101095632A>C | CA388653519 | NALCN | c.3211T>G (p.Leu1071Val) c.2932T>G (p.Leu978Val) c.3298T>G (p.Leu1100Val) c.3124T>G (p.Leu1042Val) c.3268T>G (p.Leu1090Val) c.3181T>G (p.Leu1061Val) c.2989T>G (p.Leu997Val) c.2764T>G (p.Leu922Val) c.2446T>G (p.Leu816Val) c.3355T>G (p.Leu1119Val) | |
| 13 | g.101095632A>G | CA255416235 | NALCN | c.3211T>C (p.Leu1071=) c.2932T>C (p.Leu978=) c.3298T>C (p.Leu1100=) c.3124T>C (p.Leu1042=) c.3268T>C (p.Leu1090=) c.3181T>C (p.Leu1061=) c.2989T>C (p.Leu997=) c.2764T>C (p.Leu922=) c.2446T>C (p.Leu816=) c.3355T>C (p.Leu1119=) | dbSNP COSMIC |
| 13 | g.101095632A>T | CA388653521 | NALCN | c.3211T>A (p.Leu1071Ile) c.2932T>A (p.Leu978Ile) c.3298T>A (p.Leu1100Ile) c.3124T>A (p.Leu1042Ile) c.3268T>A (p.Leu1090Ile) c.3181T>A (p.Leu1061Ile) c.2989T>A (p.Leu997Ile) c.2764T>A (p.Leu922Ile) c.2446T>A (p.Leu816Ile) c.3355T>A (p.Leu1119Ile) | |
| 13 | g.101095633G>A | CA7035465 | NALCN | c.3210C>T (p.Asn1070=) c.2931C>T (p.Asn977=) c.3297C>T (p.Asn1099=) c.3123C>T (p.Asn1041=) c.3267C>T (p.Asn1089=) c.3180C>T (p.Asn1060=) c.2988C>T (p.Asn996=) c.2763C>T (p.Asn921=) c.2445C>T (p.Asn815=) c.3354C>T (p.Asn1118=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101095633G>C | CA388653523 | NALCN | c.3210C>G (p.Asn1070Lys) c.2931C>G (p.Asn977Lys) c.3297C>G (p.Asn1099Lys) c.3123C>G (p.Asn1041Lys) c.3267C>G (p.Asn1089Lys) c.3180C>G (p.Asn1060Lys) c.2988C>G (p.Asn996Lys) c.2763C>G (p.Asn921Lys) c.2445C>G (p.Asn815Lys) c.3354C>G (p.Asn1118Lys) | |
| 13 | g.101095633G= | CA2114394819 | NALCN | c.3210C= (p.Asn1070=) c.2931C= (p.Asn977=) c.3297C= (p.Asn1099=) c.3123C= (p.Asn1041=) c.3267C= (p.Asn1089=) c.3180C= (p.Asn1060=) c.2988C= (p.Asn996=) c.2763C= (p.Asn921=) c.2445C= (p.Asn815=) c.3354C= (p.Asn1118=) | |
| 13 | g.101095633G>T | CA388653525 | NALCN | c.3210C>A (p.Asn1070Lys) c.2931C>A (p.Asn977Lys) c.3297C>A (p.Asn1099Lys) c.3123C>A (p.Asn1041Lys) c.3267C>A (p.Asn1089Lys) c.3180C>A (p.Asn1060Lys) c.2988C>A (p.Asn996Lys) c.2763C>A (p.Asn921Lys) c.2445C>A (p.Asn815Lys) c.3354C>A (p.Asn1118Lys) | COSMIC |
| 13 | g.101095634T>A | CA388653527 | NALCN | c.3209A>T (p.Asn1070Ile) c.2930A>T (p.Asn977Ile) c.3296A>T (p.Asn1099Ile) c.3122A>T (p.Asn1041Ile) c.3266A>T (p.Asn1089Ile) c.3179A>T (p.Asn1060Ile) c.2987A>T (p.Asn996Ile) c.2762A>T (p.Asn921Ile) c.2444A>T (p.Asn815Ile) c.3353A>T (p.Asn1118Ile) | |
| 13 | g.101095634T>C | CA388653529 | NALCN | c.3209A>G (p.Asn1070Ser) c.2930A>G (p.Asn977Ser) c.3296A>G (p.Asn1099Ser) c.3122A>G (p.Asn1041Ser) c.3266A>G (p.Asn1089Ser) c.3179A>G (p.Asn1060Ser) c.2987A>G (p.Asn996Ser) c.2762A>G (p.Asn921Ser) c.2444A>G (p.Asn815Ser) c.3353A>G (p.Asn1118Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.101095634T>G | CA388653531 | NALCN | c.3209A>C (p.Asn1070Thr) c.2930A>C (p.Asn977Thr) c.3296A>C (p.Asn1099Thr) c.3122A>C (p.Asn1041Thr) c.3266A>C (p.Asn1089Thr) c.3179A>C (p.Asn1060Thr) c.2987A>C (p.Asn996Thr) c.2762A>C (p.Asn921Thr) c.2444A>C (p.Asn815Thr) c.3353A>C (p.Asn1118Thr) | |
| 13 | g.101095634T= | CA2114394820 | NALCN | c.3209A= (p.Asn1070=) c.2930A= (p.Asn977=) c.3296A= (p.Asn1099=) c.3122A= (p.Asn1041=) c.3266A= (p.Asn1089=) c.3179A= (p.Asn1060=) c.2987A= (p.Asn996=) c.2762A= (p.Asn921=) c.2444A= (p.Asn815=) c.3353A= (p.Asn1118=) | |
| 13 | g.101095635T>A | CA388653537 | NALCN | c.3208A>T (p.Asn1070Tyr) c.2929A>T (p.Asn977Tyr) c.3295A>T (p.Asn1099Tyr) c.3121A>T (p.Asn1041Tyr) c.3265A>T (p.Asn1089Tyr) c.3178A>T (p.Asn1060Tyr) c.2986A>T (p.Asn996Tyr) c.2761A>T (p.Asn921Tyr) c.2443A>T (p.Asn815Tyr) c.3352A>T (p.Asn1118Tyr) | |
| 13 | g.101095635T>C | CA388653533 | NALCN | c.3208A>G (p.Asn1070Asp) c.2929A>G (p.Asn977Asp) c.3295A>G (p.Asn1099Asp) c.3121A>G (p.Asn1041Asp) c.3265A>G (p.Asn1089Asp) c.3178A>G (p.Asn1060Asp) c.2986A>G (p.Asn996Asp) c.2761A>G (p.Asn921Asp) c.2443A>G (p.Asn815Asp) c.3352A>G (p.Asn1118Asp) | |
| 13 | g.101095635T>G | CA388653535 | NALCN | c.3208A>C (p.Asn1070His) c.2929A>C (p.Asn977His) c.3295A>C (p.Asn1099His) c.3121A>C (p.Asn1041His) c.3265A>C (p.Asn1089His) c.3178A>C (p.Asn1060His) c.2986A>C (p.Asn996His) c.2761A>C (p.Asn921His) c.2443A>C (p.Asn815His) c.3352A>C (p.Asn1118His) | |
| 13 | g.101095636C>A | CA388653539 | NALCN | c.3207G>T (p.Lys1069Asn) c.2928G>T (p.Lys976Asn) c.3294G>T (p.Lys1098Asn) c.3120G>T (p.Lys1040Asn) c.3264G>T (p.Lys1088Asn) c.3177G>T (p.Lys1059Asn) c.2985G>T (p.Lys995Asn) c.2760G>T (p.Lys920Asn) c.2442G>T (p.Lys814Asn) c.3351G>T (p.Lys1117Asn) | |
| 13 | g.101095636C>G | CA388653541 | NALCN | c.3207G>C (p.Lys1069Asn) c.2928G>C (p.Lys976Asn) c.3294G>C (p.Lys1098Asn) c.3120G>C (p.Lys1040Asn) c.3264G>C (p.Lys1088Asn) c.3177G>C (p.Lys1059Asn) c.2985G>C (p.Lys995Asn) c.2760G>C (p.Lys920Asn) c.2442G>C (p.Lys814Asn) c.3351G>C (p.Lys1117Asn) | |
| 13 | g.101095636C>T | CA484554297 | NALCN | c.3207G>A (p.Lys1069=) c.2928G>A (p.Lys976=) c.3294G>A (p.Lys1098=) c.3120G>A (p.Lys1040=) c.3264G>A (p.Lys1088=) c.3177G>A (p.Lys1059=) c.2985G>A (p.Lys995=) c.2760G>A (p.Lys920=) c.2442G>A (p.Lys814=) c.3351G>A (p.Lys1117=) | |
| 13 | g.101095637T>A | CA388653543 | NALCN | c.3206A>T (p.Lys1069Met) c.2927A>T (p.Lys976Met) c.3293A>T (p.Lys1098Met) c.3119A>T (p.Lys1040Met) c.3263A>T (p.Lys1088Met) c.3176A>T (p.Lys1059Met) c.2984A>T (p.Lys995Met) c.2759A>T (p.Lys920Met) c.2441A>T (p.Lys814Met) c.3350A>T (p.Lys1117Met) | gnomAD v4 |
| 13 | g.101095637T>C | CA388653545 | NALCN | c.3206A>G (p.Lys1069Arg) c.2927A>G (p.Lys976Arg) c.3293A>G (p.Lys1098Arg) c.3119A>G (p.Lys1040Arg) c.3263A>G (p.Lys1088Arg) c.3176A>G (p.Lys1059Arg) c.2984A>G (p.Lys995Arg) c.2759A>G (p.Lys920Arg) c.2441A>G (p.Lys814Arg) c.3350A>G (p.Lys1117Arg) | gnomAD v4 |
| 13 | g.101095637T>G | CA388653547 | NALCN | c.3206A>C (p.Lys1069Thr) c.2927A>C (p.Lys976Thr) c.3293A>C (p.Lys1098Thr) c.3119A>C (p.Lys1040Thr) c.3263A>C (p.Lys1088Thr) c.3176A>C (p.Lys1059Thr) c.2984A>C (p.Lys995Thr) c.2759A>C (p.Lys920Thr) c.2441A>C (p.Lys814Thr) c.3350A>C (p.Lys1117Thr) | |
| 13 | g.101095638T>A | CA388653553 | NALCN | c.3205A>T (p.Lys1069Ter) c.2926A>T (p.Lys976Ter) c.3292A>T (p.Lys1098Ter) c.3118A>T (p.Lys1040Ter) c.3262A>T (p.Lys1088Ter) c.3175A>T (p.Lys1059Ter) c.2983A>T (p.Lys995Ter) c.2758A>T (p.Lys920Ter) c.2440A>T (p.Lys814Ter) c.3349A>T (p.Lys1117Ter) | |
| 13 | g.101095638T>C | CA388653551 | NALCN | c.3205A>G (p.Lys1069Glu) c.2926A>G (p.Lys976Glu) c.3292A>G (p.Lys1098Glu) c.3118A>G (p.Lys1040Glu) c.3262A>G (p.Lys1088Glu) c.3175A>G (p.Lys1059Glu) c.2983A>G (p.Lys995Glu) c.2758A>G (p.Lys920Glu) c.2440A>G (p.Lys814Glu) c.3349A>G (p.Lys1117Glu) | gnomAD v4 |
| 13 | g.101095638T>G | CA388653550 | NALCN | c.3205A>C (p.Lys1069Gln) c.2926A>C (p.Lys976Gln) c.3292A>C (p.Lys1098Gln) c.3118A>C (p.Lys1040Gln) c.3262A>C (p.Lys1088Gln) c.3175A>C (p.Lys1059Gln) c.2983A>C (p.Lys995Gln) c.2758A>C (p.Lys920Gln) c.2440A>C (p.Lys814Gln) c.3349A>C (p.Lys1117Gln) | |
| 13 | g.101095639T>A | CA484554304 | NALCN | c.3204A>T (p.Ser1068=) c.2925A>T (p.Ser975=) c.3291A>T (p.Ser1097=) c.3117A>T (p.Ser1039=) c.3261A>T (p.Ser1087=) c.3174A>T (p.Ser1058=) c.2982A>T (p.Ser994=) c.2757A>T (p.Ser919=) c.2439A>T (p.Ser813=) c.3348A>T (p.Ser1116=) | gnomAD v4 |
| 13 | g.101095639T>C | CA484554305 | NALCN | c.3204A>G (p.Ser1068=) c.2925A>G (p.Ser975=) c.3291A>G (p.Ser1097=) c.3117A>G (p.Ser1039=) c.3261A>G (p.Ser1087=) c.3174A>G (p.Ser1058=) c.2982A>G (p.Ser994=) c.2757A>G (p.Ser919=) c.2439A>G (p.Ser813=) c.3348A>G (p.Ser1116=) | |
| 13 | g.101095639T>G | CA484554307 | NALCN | c.3204A>C (p.Ser1068=) c.2925A>C (p.Ser975=) c.3291A>C (p.Ser1097=) c.3117A>C (p.Ser1039=) c.3261A>C (p.Ser1087=) c.3174A>C (p.Ser1058=) c.2982A>C (p.Ser994=) c.2757A>C (p.Ser919=) c.2439A>C (p.Ser813=) c.3348A>C (p.Ser1116=) | gnomAD v4 |
| 13 | g.101095640G>A | CA388653555 | NALCN | c.3203C>T (p.Ser1068Leu) c.2924C>T (p.Ser975Leu) c.3290C>T (p.Ser1097Leu) c.3116C>T (p.Ser1039Leu) c.3260C>T (p.Ser1087Leu) c.3173C>T (p.Ser1058Leu) c.2981C>T (p.Ser994Leu) c.2756C>T (p.Ser919Leu) c.2438C>T (p.Ser813Leu) c.3347C>T (p.Ser1116Leu) | dbSNP |
| 13 | g.101095640G>C | CA388653556 | NALCN | c.3203C>G (p.Ser1068Ter) c.2924C>G (p.Ser975Ter) c.3290C>G (p.Ser1097Ter) c.3116C>G (p.Ser1039Ter) c.3260C>G (p.Ser1087Ter) c.3173C>G (p.Ser1058Ter) c.2981C>G (p.Ser994Ter) c.2756C>G (p.Ser919Ter) c.2438C>G (p.Ser813Ter) c.3347C>G (p.Ser1116Ter) | |
| 13 | g.101095640G= | CA2114394821 | NALCN | c.3203C= (p.Ser1068=) c.2924C= (p.Ser975=) c.3290C= (p.Ser1097=) c.3116C= (p.Ser1039=) c.3260C= (p.Ser1087=) c.3173C= (p.Ser1058=) c.2981C= (p.Ser994=) c.2756C= (p.Ser919=) c.2438C= (p.Ser813=) c.3347C= (p.Ser1116=) | |
| 13 | g.101095640G>T | CA388653557 | NALCN | c.3203C>A (p.Ser1068Ter) c.2924C>A (p.Ser975Ter) c.3290C>A (p.Ser1097Ter) c.3116C>A (p.Ser1039Ter) c.3260C>A (p.Ser1087Ter) c.3173C>A (p.Ser1058Ter) c.2981C>A (p.Ser994Ter) c.2756C>A (p.Ser919Ter) c.2438C>A (p.Ser813Ter) c.3347C>A (p.Ser1116Ter) | |
| 13 | g.101095641A>C | CA388653558 | NALCN | c.3202T>G (p.Ser1068Ala) c.2923T>G (p.Ser975Ala) c.3289T>G (p.Ser1097Ala) c.3115T>G (p.Ser1039Ala) c.3259T>G (p.Ser1087Ala) c.3172T>G (p.Ser1058Ala) c.2980T>G (p.Ser994Ala) c.2755T>G (p.Ser919Ala) c.2437T>G (p.Ser813Ala) c.3346T>G (p.Ser1116Ala) | COSMIC |
| 13 | g.101095641A>G | CA388653560 | NALCN | c.3202T>C (p.Ser1068Pro) c.2923T>C (p.Ser975Pro) c.3289T>C (p.Ser1097Pro) c.3115T>C (p.Ser1039Pro) c.3259T>C (p.Ser1087Pro) c.3172T>C (p.Ser1058Pro) c.2980T>C (p.Ser994Pro) c.2755T>C (p.Ser919Pro) c.2437T>C (p.Ser813Pro) c.3346T>C (p.Ser1116Pro) | |
| 13 | g.101095641A>T | CA388653562 | NALCN | c.3202T>A (p.Ser1068Thr) c.2923T>A (p.Ser975Thr) c.3289T>A (p.Ser1097Thr) c.3115T>A (p.Ser1039Thr) c.3259T>A (p.Ser1087Thr) c.3172T>A (p.Ser1058Thr) c.2980T>A (p.Ser994Thr) c.2755T>A (p.Ser919Thr) c.2437T>A (p.Ser813Thr) c.3346T>A (p.Ser1116Thr) | |
| 13 | g.101095642C>A | CA484554314 | NALCN | c.3201G>T (p.Val1067=) c.2922G>T (p.Val974=) c.3288G>T (p.Val1096=) c.3114G>T (p.Val1038=) c.3258G>T (p.Val1086=) c.3171G>T (p.Val1057=) c.2979G>T (p.Val993=) c.2754G>T (p.Val918=) c.2436G>T (p.Val812=) c.3345G>T (p.Val1115=) | |
| 13 | g.101095642C>G | CA484554317 | NALCN | c.3201G>C (p.Val1067=) c.2922G>C (p.Val974=) c.3288G>C (p.Val1096=) c.3114G>C (p.Val1038=) c.3258G>C (p.Val1086=) c.3171G>C (p.Val1057=) c.2979G>C (p.Val993=) c.2754G>C (p.Val918=) c.2436G>C (p.Val812=) c.3345G>C (p.Val1115=) | |
| 13 | g.101095642C>T | CA484554315 | NALCN | c.3201G>A (p.Val1067=) c.2922G>A (p.Val974=) c.3288G>A (p.Val1096=) c.3114G>A (p.Val1038=) c.3258G>A (p.Val1086=) c.3171G>A (p.Val1057=) c.2979G>A (p.Val993=) c.2754G>A (p.Val918=) c.2436G>A (p.Val812=) c.3345G>A (p.Val1115=) | gnomAD v4 |
| 13 | g.101095643A>C | CA388653564 | NALCN | c.3200T>G (p.Val1067Gly) c.2921T>G (p.Val974Gly) c.3287T>G (p.Val1096Gly) c.3113T>G (p.Val1038Gly) c.3257T>G (p.Val1086Gly) c.3170T>G (p.Val1057Gly) c.2978T>G (p.Val993Gly) c.2753T>G (p.Val918Gly) c.2435T>G (p.Val812Gly) c.3344T>G (p.Val1115Gly) | |
| 13 | g.101095643A>G | CA388653567 | NALCN | c.3200T>C (p.Val1067Ala) c.2921T>C (p.Val974Ala) c.3287T>C (p.Val1096Ala) c.3113T>C (p.Val1038Ala) c.3257T>C (p.Val1086Ala) c.3170T>C (p.Val1057Ala) c.2978T>C (p.Val993Ala) c.2753T>C (p.Val918Ala) c.2435T>C (p.Val812Ala) c.3344T>C (p.Val1115Ala) | |
| 13 | g.101095643A>T | CA388653565 | NALCN | c.3200T>A (p.Val1067Glu) c.2921T>A (p.Val974Glu) c.3287T>A (p.Val1096Glu) c.3113T>A (p.Val1038Glu) c.3257T>A (p.Val1086Glu) c.3170T>A (p.Val1057Glu) c.2978T>A (p.Val993Glu) c.2753T>A (p.Val918Glu) c.2435T>A (p.Val812Glu) c.3344T>A (p.Val1115Glu) | |
| 13 | g.101095644C>A | CA388653569 | NALCN | c.3199G>T (p.Val1067Leu) c.2920G>T (p.Val974Leu) c.3286G>T (p.Val1096Leu) c.3112G>T (p.Val1038Leu) c.3256G>T (p.Val1086Leu) c.3169G>T (p.Val1057Leu) c.2977G>T (p.Val993Leu) c.2752G>T (p.Val918Leu) c.2434G>T (p.Val812Leu) c.3343G>T (p.Val1115Leu) | |
| 13 | g.101095644C= | CA2114394822 | NALCN | c.3199G= (p.Val1067=) c.2920G= (p.Val974=) c.3286G= (p.Val1096=) c.3112G= (p.Val1038=) c.3256G= (p.Val1086=) c.3169G= (p.Val1057=) c.2977G= (p.Val993=) c.2752G= (p.Val918=) c.2434G= (p.Val812=) c.3343G= (p.Val1115=) | |
| 13 | g.101095644C>G | CA388653570 | NALCN | c.3199G>C (p.Val1067Leu) c.2920G>C (p.Val974Leu) c.3286G>C (p.Val1096Leu) c.3112G>C (p.Val1038Leu) c.3256G>C (p.Val1086Leu) c.3169G>C (p.Val1057Leu) c.2977G>C (p.Val993Leu) c.2752G>C (p.Val918Leu) c.2434G>C (p.Val812Leu) c.3343G>C (p.Val1115Leu) | |
| 13 | g.101095644C>T | CA255416250 | NALCN | c.3199G>A (p.Val1067Met) c.2920G>A (p.Val974Met) c.3286G>A (p.Val1096Met) c.3112G>A (p.Val1038Met) c.3256G>A (p.Val1086Met) c.3169G>A (p.Val1057Met) c.2977G>A (p.Val993Met) c.2752G>A (p.Val918Met) c.2434G>A (p.Val812Met) c.3343G>A (p.Val1115Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.101095645A>C | CA388653573 | NALCN | c.3198T>G (p.Ser1066Arg) c.2919T>G (p.Ser973Arg) c.3285T>G (p.Ser1095Arg) c.3111T>G (p.Ser1037Arg) c.3255T>G (p.Ser1085Arg) c.3168T>G (p.Ser1056Arg) c.2976T>G (p.Ser992Arg) c.2751T>G (p.Ser917Arg) c.2433T>G (p.Ser811Arg) c.3342T>G (p.Ser1114Arg) | |
| 13 | g.101095645A>G | CA484554325 | NALCN | c.3198T>C (p.Ser1066=) c.2919T>C (p.Ser973=) c.3285T>C (p.Ser1095=) c.3111T>C (p.Ser1037=) c.3255T>C (p.Ser1085=) c.3168T>C (p.Ser1056=) c.2976T>C (p.Ser992=) c.2751T>C (p.Ser917=) c.2433T>C (p.Ser811=) c.3342T>C (p.Ser1114=) | |
| 13 | g.101095645A>T | CA388653574 | NALCN | c.3198T>A (p.Ser1066Arg) c.2919T>A (p.Ser973Arg) c.3285T>A (p.Ser1095Arg) c.3111T>A (p.Ser1037Arg) c.3255T>A (p.Ser1085Arg) c.3168T>A (p.Ser1056Arg) c.2976T>A (p.Ser992Arg) c.2751T>A (p.Ser917Arg) c.2433T>A (p.Ser811Arg) c.3342T>A (p.Ser1114Arg) | |
| 13 | g.101095646C>A | CA388653575 | NALCN | c.3197G>T (p.Ser1066Ile) c.2918G>T (p.Ser973Ile) c.3284G>T (p.Ser1095Ile) c.3110G>T (p.Ser1037Ile) c.3254G>T (p.Ser1085Ile) c.3167G>T (p.Ser1056Ile) c.2975G>T (p.Ser992Ile) c.2750G>T (p.Ser917Ile) c.2432G>T (p.Ser811Ile) c.3341G>T (p.Ser1114Ile) | COSMIC |
| 13 | g.101095646C>G | CA388653576 | NALCN | c.3197G>C (p.Ser1066Thr) c.2918G>C (p.Ser973Thr) c.3284G>C (p.Ser1095Thr) c.3110G>C (p.Ser1037Thr) c.3254G>C (p.Ser1085Thr) c.3167G>C (p.Ser1056Thr) c.2975G>C (p.Ser992Thr) c.2750G>C (p.Ser917Thr) c.2432G>C (p.Ser811Thr) c.3341G>C (p.Ser1114Thr) | |
| 13 | g.101095646C>T | CA388653578 | NALCN | c.3197G>A (p.Ser1066Asn) c.2918G>A (p.Ser973Asn) c.3284G>A (p.Ser1095Asn) c.3110G>A (p.Ser1037Asn) c.3254G>A (p.Ser1085Asn) c.3167G>A (p.Ser1056Asn) c.2975G>A (p.Ser992Asn) c.2750G>A (p.Ser917Asn) c.2432G>A (p.Ser811Asn) c.3341G>A (p.Ser1114Asn) | |
| 13 | g.101095647T>A | CA388653580 | NALCN | c.3196A>T (p.Ser1066Cys) c.2917A>T (p.Ser973Cys) c.3283A>T (p.Ser1095Cys) c.3109A>T (p.Ser1037Cys) c.3253A>T (p.Ser1085Cys) c.3166A>T (p.Ser1056Cys) c.2974A>T (p.Ser992Cys) c.2749A>T (p.Ser917Cys) c.2431A>T (p.Ser811Cys) c.3340A>T (p.Ser1114Cys) | |
| 13 | g.101095647T>C | CA388653581 | NALCN | c.3196A>G (p.Ser1066Gly) c.2917A>G (p.Ser973Gly) c.3283A>G (p.Ser1095Gly) c.3109A>G (p.Ser1037Gly) c.3253A>G (p.Ser1085Gly) c.3166A>G (p.Ser1056Gly) c.2974A>G (p.Ser992Gly) c.2749A>G (p.Ser917Gly) c.2431A>G (p.Ser811Gly) c.3340A>G (p.Ser1114Gly) | |
| 13 | g.101095647T>G | CA388653583 | NALCN | c.3196A>C (p.Ser1066Arg) c.2917A>C (p.Ser973Arg) c.3283A>C (p.Ser1095Arg) c.3109A>C (p.Ser1037Arg) c.3253A>C (p.Ser1085Arg) c.3166A>C (p.Ser1056Arg) c.2974A>C (p.Ser992Arg) c.2749A>C (p.Ser917Arg) c.2431A>C (p.Ser811Arg) c.3340A>C (p.Ser1114Arg) | |
| 13 | g.101095648G>A | CA484554334 | NALCN | c.3195C>T (p.Val1065=) c.2916C>T (p.Val972=) c.3282C>T (p.Val1094=) c.3108C>T (p.Val1036=) c.3252C>T (p.Val1084=) c.3165C>T (p.Val1055=) c.2973C>T (p.Val991=) c.2748C>T (p.Val916=) c.2430C>T (p.Val810=) c.3339C>T (p.Val1113=) | |
| 13 | g.101095648G>C | CA484554335 | NALCN | c.3195C>G (p.Val1065=) c.2916C>G (p.Val972=) c.3282C>G (p.Val1094=) c.3108C>G (p.Val1036=) c.3252C>G (p.Val1084=) c.3165C>G (p.Val1055=) c.2973C>G (p.Val991=) c.2748C>G (p.Val916=) c.2430C>G (p.Val810=) c.3339C>G (p.Val1113=) | |
| 13 | g.101095648G>T | CA484554337 | NALCN | c.3195C>A (p.Val1065=) c.2916C>A (p.Val972=) c.3282C>A (p.Val1094=) c.3108C>A (p.Val1036=) c.3252C>A (p.Val1084=) c.3165C>A (p.Val1055=) c.2973C>A (p.Val991=) c.2748C>A (p.Val916=) c.2430C>A (p.Val810=) c.3339C>A (p.Val1113=) | |
| 13 | g.101095649A>C | CA388653588 | NALCN | c.3194T>G (p.Val1065Gly) c.2915T>G (p.Val972Gly) c.3281T>G (p.Val1094Gly) c.3107T>G (p.Val1036Gly) c.3251T>G (p.Val1084Gly) c.3164T>G (p.Val1055Gly) c.2972T>G (p.Val991Gly) c.2747T>G (p.Val916Gly) c.2429T>G (p.Val810Gly) c.3338T>G (p.Val1113Gly) | |
| 13 | g.101095649A>G | CA388653591 | NALCN | c.3194T>C (p.Val1065Ala) c.2915T>C (p.Val972Ala) c.3281T>C (p.Val1094Ala) c.3107T>C (p.Val1036Ala) c.3251T>C (p.Val1084Ala) c.3164T>C (p.Val1055Ala) c.2972T>C (p.Val991Ala) c.2747T>C (p.Val916Ala) c.2429T>C (p.Val810Ala) c.3338T>C (p.Val1113Ala) | |
| 13 | g.101095649A>T | CA388653589 | NALCN | c.3194T>A (p.Val1065Asp) c.2915T>A (p.Val972Asp) c.3281T>A (p.Val1094Asp) c.3107T>A (p.Val1036Asp) c.3251T>A (p.Val1084Asp) c.3164T>A (p.Val1055Asp) c.2972T>A (p.Val991Asp) c.2747T>A (p.Val916Asp) c.2429T>A (p.Val810Asp) c.3338T>A (p.Val1113Asp) | |
| 13 | g.101095650C>A | CA388653593 | NALCN | c.3193G>T (p.Val1065Phe) c.2914G>T (p.Val972Phe) c.3280G>T (p.Val1094Phe) c.3106G>T (p.Val1036Phe) c.3250G>T (p.Val1084Phe) c.3163G>T (p.Val1055Phe) c.2971G>T (p.Val991Phe) c.2746G>T (p.Val916Phe) c.2428G>T (p.Val810Phe) c.3337G>T (p.Val1113Phe) | |
| 13 | g.101095650C>G | CA388653595 | NALCN | c.3193G>C (p.Val1065Leu) c.2914G>C (p.Val972Leu) c.3280G>C (p.Val1094Leu) c.3106G>C (p.Val1036Leu) c.3250G>C (p.Val1084Leu) c.3163G>C (p.Val1055Leu) c.2971G>C (p.Val991Leu) c.2746G>C (p.Val916Leu) c.2428G>C (p.Val810Leu) c.3337G>C (p.Val1113Leu) | |
| 13 | g.101095650C>T | CA388653597 | NALCN | c.3193G>A (p.Val1065Ile) c.2914G>A (p.Val972Ile) c.3280G>A (p.Val1094Ile) c.3106G>A (p.Val1036Ile) c.3250G>A (p.Val1084Ile) c.3163G>A (p.Val1055Ile) c.2971G>A (p.Val991Ile) c.2746G>A (p.Val916Ile) c.2428G>A (p.Val810Ile) c.3337G>A (p.Val1113Ile) | gnomAD v4 |
| 13 | g.101095651A>C | CA388653599 | NALCN | c.3192T>G (p.Asn1064Lys) c.2913T>G (p.Asn971Lys) c.3279T>G (p.Asn1093Lys) c.3105T>G (p.Asn1035Lys) c.3249T>G (p.Asn1083Lys) c.3162T>G (p.Asn1054Lys) c.2970T>G (p.Asn990Lys) c.2745T>G (p.Asn915Lys) c.2427T>G (p.Asn809Lys) c.3336T>G (p.Asn1112Lys) | |
| 13 | g.101095651A>G | CA484554346 | NALCN | c.3192T>C (p.Asn1064=) c.2913T>C (p.Asn971=) c.3279T>C (p.Asn1093=) c.3105T>C (p.Asn1035=) c.3249T>C (p.Asn1083=) c.3162T>C (p.Asn1054=) c.2970T>C (p.Asn990=) c.2745T>C (p.Asn915=) c.2427T>C (p.Asn809=) c.3336T>C (p.Asn1112=) | gnomAD v4 |
| 13 | g.101095651A>T | CA388653601 | NALCN | c.3192T>A (p.Asn1064Lys) c.2913T>A (p.Asn971Lys) c.3279T>A (p.Asn1093Lys) c.3105T>A (p.Asn1035Lys) c.3249T>A (p.Asn1083Lys) c.3162T>A (p.Asn1054Lys) c.2970T>A (p.Asn990Lys) c.2745T>A (p.Asn915Lys) c.2427T>A (p.Asn809Lys) c.3336T>A (p.Asn1112Lys) | COSMIC |
| 13 | g.101095652T>A | CA388653603 | NALCN | c.3191A>T (p.Asn1064Ile) c.2912A>T (p.Asn971Ile) c.3278A>T (p.Asn1093Ile) c.3104A>T (p.Asn1035Ile) c.3248A>T (p.Asn1083Ile) c.3161A>T (p.Asn1054Ile) c.2969A>T (p.Asn990Ile) c.2744A>T (p.Asn915Ile) c.2426A>T (p.Asn809Ile) c.3335A>T (p.Asn1112Ile) | |
| 13 | g.101095652T>C | CA388653605 | NALCN | c.3191A>G (p.Asn1064Ser) c.2912A>G (p.Asn971Ser) c.3278A>G (p.Asn1093Ser) c.3104A>G (p.Asn1035Ser) c.3248A>G (p.Asn1083Ser) c.3161A>G (p.Asn1054Ser) c.2969A>G (p.Asn990Ser) c.2744A>G (p.Asn915Ser) c.2426A>G (p.Asn809Ser) c.3335A>G (p.Asn1112Ser) | |
| 13 | g.101095652T>G | CA388653606 | NALCN | c.3191A>C (p.Asn1064Thr) c.2912A>C (p.Asn971Thr) c.3278A>C (p.Asn1093Thr) c.3104A>C (p.Asn1035Thr) c.3248A>C (p.Asn1083Thr) c.3161A>C (p.Asn1054Thr) c.2969A>C (p.Asn990Thr) c.2744A>C (p.Asn915Thr) c.2426A>C (p.Asn809Thr) c.3335A>C (p.Asn1112Thr) | |
| 13 | g.101095653T>A | CA388653607 | NALCN | c.3190A>T (p.Asn1064Tyr) c.2911A>T (p.Asn971Tyr) c.3277A>T (p.Asn1093Tyr) c.3103A>T (p.Asn1035Tyr) c.3247A>T (p.Asn1083Tyr) c.3160A>T (p.Asn1054Tyr) c.2968A>T (p.Asn990Tyr) c.2743A>T (p.Asn915Tyr) c.2425A>T (p.Asn809Tyr) c.3334A>T (p.Asn1112Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.101095653T>C | CA388653611 | NALCN | c.3190A>G (p.Asn1064Asp) c.2911A>G (p.Asn971Asp) c.3277A>G (p.Asn1093Asp) c.3103A>G (p.Asn1035Asp) c.3247A>G (p.Asn1083Asp) c.3160A>G (p.Asn1054Asp) c.2968A>G (p.Asn990Asp) c.2743A>G (p.Asn915Asp) c.2425A>G (p.Asn809Asp) c.3334A>G (p.Asn1112Asp) | |
| 13 | g.101095653T>G | CA388653609 | NALCN | c.3190A>C (p.Asn1064His) c.2911A>C (p.Asn971His) c.3277A>C (p.Asn1093His) c.3103A>C (p.Asn1035His) c.3247A>C (p.Asn1083His) c.3160A>C (p.Asn1054His) c.2968A>C (p.Asn990His) c.2743A>C (p.Asn915His) c.2425A>C (p.Asn809His) c.3334A>C (p.Asn1112His) | |
| 13 | g.101095653T= | CA2114394823 | NALCN | c.3190A= (p.Asn1064=) c.2911A= (p.Asn971=) c.3277A= (p.Asn1093=) c.3103A= (p.Asn1035=) c.3247A= (p.Asn1083=) c.3160A= (p.Asn1054=) c.2968A= (p.Asn990=) c.2743A= (p.Asn915=) c.2425A= (p.Asn809=) c.3334A= (p.Asn1112=) | |
| 13 | g.101095654A= | CA2114394824 | NALCN | c.3189T= (p.Ile1063=) c.2910T= (p.Ile970=) c.3276T= (p.Ile1092=) c.3102T= (p.Ile1034=) c.3246T= (p.Ile1082=) c.3159T= (p.Ile1053=) c.2967T= (p.Ile989=) c.2742T= (p.Ile914=) c.2424T= (p.Ile808=) c.3333T= (p.Ile1111=) | |
| 13 | g.101095654A>C | CA388653614 | NALCN | c.3189T>G (p.Ile1063Met) c.2910T>G (p.Ile970Met) c.3276T>G (p.Ile1092Met) c.3102T>G (p.Ile1034Met) c.3246T>G (p.Ile1082Met) c.3159T>G (p.Ile1053Met) c.2967T>G (p.Ile989Met) c.2742T>G (p.Ile914Met) c.2424T>G (p.Ile808Met) c.3333T>G (p.Ile1111Met) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.101095654A>G | CA484554353 | NALCN | c.3189T>C (p.Ile1063=) c.2910T>C (p.Ile970=) c.3276T>C (p.Ile1092=) c.3102T>C (p.Ile1034=) c.3246T>C (p.Ile1082=) c.3159T>C (p.Ile1053=) c.2967T>C (p.Ile989=) c.2742T>C (p.Ile914=) c.2424T>C (p.Ile808=) c.3333T>C (p.Ile1111=) | |
| 13 | g.101095654A>T | CA484554354 | NALCN | c.3189T>A (p.Ile1063=) c.2910T>A (p.Ile970=) c.3276T>A (p.Ile1092=) c.3102T>A (p.Ile1034=) c.3246T>A (p.Ile1082=) c.3159T>A (p.Ile1053=) c.2967T>A (p.Ile989=) c.2742T>A (p.Ile914=) c.2424T>A (p.Ile808=) c.3333T>A (p.Ile1111=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.101095655A>C | CA388653617 | NALCN | c.3188T>G (p.Ile1063Ser) c.2909T>G (p.Ile970Ser) c.3275T>G (p.Ile1092Ser) c.3101T>G (p.Ile1034Ser) c.3245T>G (p.Ile1082Ser) c.3158T>G (p.Ile1053Ser) c.2966T>G (p.Ile989Ser) c.2741T>G (p.Ile914Ser) c.2423T>G (p.Ile808Ser) c.3332T>G (p.Ile1111Ser) | COSMIC |
| 13 | g.101095655A>G | CA388653619 | NALCN | c.3188T>C (p.Ile1063Thr) c.2909T>C (p.Ile970Thr) c.3275T>C (p.Ile1092Thr) c.3101T>C (p.Ile1034Thr) c.3245T>C (p.Ile1082Thr) c.3158T>C (p.Ile1053Thr) c.2966T>C (p.Ile989Thr) c.2741T>C (p.Ile914Thr) c.2423T>C (p.Ile808Thr) c.3332T>C (p.Ile1111Thr) | |
| 13 | g.101095655A>T | CA388653621 | NALCN | c.3188T>A (p.Ile1063Asn) c.2909T>A (p.Ile970Asn) c.3275T>A (p.Ile1092Asn) c.3101T>A (p.Ile1034Asn) c.3245T>A (p.Ile1082Asn) c.3158T>A (p.Ile1053Asn) c.2966T>A (p.Ile989Asn) c.2741T>A (p.Ile914Asn) c.2423T>A (p.Ile808Asn) c.3332T>A (p.Ile1111Asn) | |
| 13 | g.101095656T>A | CA388653627 | NALCN | c.3187A>T (p.Ile1063Phe) c.2908A>T (p.Ile970Phe) c.3274A>T (p.Ile1092Phe) c.3100A>T (p.Ile1034Phe) c.3244A>T (p.Ile1082Phe) c.3157A>T (p.Ile1053Phe) c.2965A>T (p.Ile989Phe) c.2740A>T (p.Ile914Phe) c.2422A>T (p.Ile808Phe) c.3331A>T (p.Ile1111Phe) | |
| 13 | g.101095656T>C | CA388653624 | NALCN | c.3187A>G (p.Ile1063Val) c.2908A>G (p.Ile970Val) c.3274A>G (p.Ile1092Val) c.3100A>G (p.Ile1034Val) c.3244A>G (p.Ile1082Val) c.3157A>G (p.Ile1053Val) c.2965A>G (p.Ile989Val) c.2740A>G (p.Ile914Val) c.2422A>G (p.Ile808Val) c.3331A>G (p.Ile1111Val) | |
| 13 | g.101095656T>G | CA388653625 | NALCN | c.3187A>C (p.Ile1063Leu) c.2908A>C (p.Ile970Leu) c.3274A>C (p.Ile1092Leu) c.3100A>C (p.Ile1034Leu) c.3244A>C (p.Ile1082Leu) c.3157A>C (p.Ile1053Leu) c.2965A>C (p.Ile989Leu) c.2740A>C (p.Ile914Leu) c.2422A>C (p.Ile808Leu) c.3331A>C (p.Ile1111Leu) | |
| 13 | g.101095657T>A | CA388653630 | NALCN | c.3186A>T (p.Arg1062Ser) c.2907A>T (p.Arg969Ser) c.3273A>T (p.Arg1091Ser) c.3099A>T (p.Arg1033Ser) c.3243A>T (p.Arg1081Ser) c.3156A>T (p.Arg1052Ser) c.2964A>T (p.Arg988Ser) c.2739A>T (p.Arg913Ser) c.2421A>T (p.Arg807Ser) c.3330A>T (p.Arg1110Ser) | |
| 13 | g.101095657T>C | CA484554360 | NALCN | c.3186A>G (p.Arg1062=) c.2907A>G (p.Arg969=) c.3273A>G (p.Arg1091=) c.3099A>G (p.Arg1033=) c.3243A>G (p.Arg1081=) c.3156A>G (p.Arg1052=) c.2964A>G (p.Arg988=) c.2739A>G (p.Arg913=) c.2421A>G (p.Arg807=) c.3330A>G (p.Arg1110=) | |
| 13 | g.101095657T>G | CA388653631 | NALCN | c.3186A>C (p.Arg1062Ser) c.2907A>C (p.Arg969Ser) c.3273A>C (p.Arg1091Ser) c.3099A>C (p.Arg1033Ser) c.3243A>C (p.Arg1081Ser) c.3156A>C (p.Arg1052Ser) c.2964A>C (p.Arg988Ser) c.2739A>C (p.Arg913Ser) c.2421A>C (p.Arg807Ser) c.3330A>C (p.Arg1110Ser) | |
| 13 | g.101095658C>A | CA388653633 | NALCN | c.3185G>T (p.Arg1062Ile) c.2906G>T (p.Arg969Ile) c.3272G>T (p.Arg1091Ile) c.3098G>T (p.Arg1033Ile) c.3242G>T (p.Arg1081Ile) c.3155G>T (p.Arg1052Ile) c.2963G>T (p.Arg988Ile) c.2738G>T (p.Arg913Ile) c.2420G>T (p.Arg807Ile) c.3329G>T (p.Arg1110Ile) | |
| 13 | g.101095658C>G | CA388653635 | NALCN | c.3185G>C (p.Arg1062Thr) c.2906G>C (p.Arg969Thr) c.3272G>C (p.Arg1091Thr) c.3098G>C (p.Arg1033Thr) c.3242G>C (p.Arg1081Thr) c.3155G>C (p.Arg1052Thr) c.2963G>C (p.Arg988Thr) c.2738G>C (p.Arg913Thr) c.2420G>C (p.Arg807Thr) c.3329G>C (p.Arg1110Thr) | |
| 13 | g.101095658C>T | CA388653636 | NALCN | c.3185G>A (p.Arg1062Lys) c.2906G>A (p.Arg969Lys) c.3272G>A (p.Arg1091Lys) c.3098G>A (p.Arg1033Lys) c.3242G>A (p.Arg1081Lys) c.3155G>A (p.Arg1052Lys) c.2963G>A (p.Arg988Lys) c.2738G>A (p.Arg913Lys) c.2420G>A (p.Arg807Lys) c.3329G>A (p.Arg1110Lys) | gnomAD v4 |
| 13 | g.101095659T>A | CA388653638 | NALCN | c.3184A>T (p.Arg1062Ter) c.2905A>T (p.Arg969Ter) c.3271A>T (p.Arg1091Ter) c.3097A>T (p.Arg1033Ter) c.3241A>T (p.Arg1081Ter) c.3154A>T (p.Arg1052Ter) c.2962A>T (p.Arg988Ter) c.2737A>T (p.Arg913Ter) c.2419A>T (p.Arg807Ter) c.3328A>T (p.Arg1110Ter) | |
| 13 | g.101095659T>C | CA388653640 | NALCN | c.3184A>G (p.Arg1062Gly) c.2905A>G (p.Arg969Gly) c.3271A>G (p.Arg1091Gly) c.3097A>G (p.Arg1033Gly) c.3241A>G (p.Arg1081Gly) c.3154A>G (p.Arg1052Gly) c.2962A>G (p.Arg988Gly) c.2737A>G (p.Arg913Gly) c.2419A>G (p.Arg807Gly) c.3328A>G (p.Arg1110Gly) | |
| 13 | g.101095659T>G | CA484554366 | NALCN | c.3184A>C (p.Arg1062=) c.2905A>C (p.Arg969=) c.3271A>C (p.Arg1091=) c.3097A>C (p.Arg1033=) c.3241A>C (p.Arg1081=) c.3154A>C (p.Arg1052=) c.2962A>C (p.Arg988=) c.2737A>C (p.Arg913=) c.2419A>C (p.Arg807=) c.3328A>C (p.Arg1110=) | dbSNP gnomAD v4 |
| 13 | g.101095659T= | CA2114394825 | NALCN | c.3184A= (p.Arg1062=) c.2905A= (p.Arg969=) c.3271A= (p.Arg1091=) c.3097A= (p.Arg1033=) c.3241A= (p.Arg1081=) c.3154A= (p.Arg1052=) c.2962A= (p.Arg988=) c.2737A= (p.Arg913=) c.2419A= (p.Arg807=) c.3328A= (p.Arg1110=) | |
| 13 | g.101095660G>A | CA7035466 | NALCN | c.3183C>T (p.Phe1061=) c.2904C>T (p.Phe968=) c.3270C>T (p.Phe1090=) c.3096C>T (p.Phe1032=) c.3240C>T (p.Phe1080=) c.3153C>T (p.Phe1051=) c.2961C>T (p.Phe987=) c.2736C>T (p.Phe912=) c.2418C>T (p.Phe806=) c.3327C>T (p.Phe1109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101095660G>C | CA388653644 | NALCN | c.3183C>G (p.Phe1061Leu) c.2904C>G (p.Phe968Leu) c.3270C>G (p.Phe1090Leu) c.3096C>G (p.Phe1032Leu) c.3240C>G (p.Phe1080Leu) c.3153C>G (p.Phe1051Leu) c.2961C>G (p.Phe987Leu) c.2736C>G (p.Phe912Leu) c.2418C>G (p.Phe806Leu) c.3327C>G (p.Phe1109Leu) | |
| 13 | g.101095660G= | CA2114394826 | NALCN | c.3183C= (p.Phe1061=) c.2904C= (p.Phe968=) c.3270C= (p.Phe1090=) c.3096C= (p.Phe1032=) c.3240C= (p.Phe1080=) c.3153C= (p.Phe1051=) c.2961C= (p.Phe987=) c.2736C= (p.Phe912=) c.2418C= (p.Phe806=) c.3327C= (p.Phe1109=) | |
| 13 | g.101095660G>T | CA388653645 | NALCN | c.3183C>A (p.Phe1061Leu) c.2904C>A (p.Phe968Leu) c.3270C>A (p.Phe1090Leu) c.3096C>A (p.Phe1032Leu) c.3240C>A (p.Phe1080Leu) c.3153C>A (p.Phe1051Leu) c.2961C>A (p.Phe987Leu) c.2736C>A (p.Phe912Leu) c.2418C>A (p.Phe806Leu) c.3327C>A (p.Phe1109Leu) |