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.101081481C>A | CA7035265 | NALCN | c.3885+46G>T (n.3885+46G>T) c.3606+46G>T (n.3606+46G>T) c.3972+46G>T (n.3972+46G>T) c.3798+46G>T (n.3798+46G>T) c.3942+46G>T (n.3942+46G>T) c.3855+46G>T (n.3855+46G>T) c.3663+46G>T (n.3663+46G>T) c.3438+46G>T (n.3438+46G>T) c.3120+46G>T (n.3120+46G>T) c.4029+46G>T (n.4029+46G>T) | dbSNP ExAC gnomAD v2 |
| 13 | g.101081481C= | CA2114388808 | NALCN | c.3885+46G= (n.3885+46G=) c.3606+46G= (n.3606+46G=) c.3972+46G= (n.3972+46G=) c.3798+46G= (n.3798+46G=) c.3942+46G= (n.3942+46G=) c.3855+46G= (n.3855+46G=) c.3663+46G= (n.3663+46G=) c.3438+46G= (n.3438+46G=) c.3120+46G= (n.3120+46G=) c.4029+46G= (n.4029+46G=) | |
| 13 | g.101081481C>G | CA2623578290 | NALCN | c.3885+46G>C (n.3885+46G>C) c.3606+46G>C (n.3606+46G>C) c.3972+46G>C (n.3972+46G>C) c.3798+46G>C (n.3798+46G>C) c.3942+46G>C (n.3942+46G>C) c.3855+46G>C (n.3855+46G>C) c.3663+46G>C (n.3663+46G>C) c.3438+46G>C (n.3438+46G>C) c.3120+46G>C (n.3120+46G>C) c.4029+46G>C (n.4029+46G>C) | gnomAD v4 |
| 13 | g.101081481C>T | CA7035266 | NALCN | c.3885+46G>A (n.3885+46G>A) c.3606+46G>A (n.3606+46G>A) c.3972+46G>A (n.3972+46G>A) c.3798+46G>A (n.3798+46G>A) c.3942+46G>A (n.3942+46G>A) c.3855+46G>A (n.3855+46G>A) c.3663+46G>A (n.3663+46G>A) c.3438+46G>A (n.3438+46G>A) c.3120+46G>A (n.3120+46G>A) c.4029+46G>A (n.4029+46G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101081484A>G | CA2575448051 | NALCN | c.3885+43T>C (n.3885+43T>C) c.3606+43T>C (n.3606+43T>C) c.3972+43T>C (n.3972+43T>C) c.3798+43T>C (n.3798+43T>C) c.3942+43T>C (n.3942+43T>C) c.3855+43T>C (n.3855+43T>C) c.3663+43T>C (n.3663+43T>C) c.3438+43T>C (n.3438+43T>C) c.3120+43T>C (n.3120+43T>C) c.4029+43T>C (n.4029+43T>C) | |
| 13 | g.101081485A= | CA2114388809 | NALCN | c.3885+42T= (n.3885+42T=) c.3606+42T= (n.3606+42T=) c.3972+42T= (n.3972+42T=) c.3798+42T= (n.3798+42T=) c.3942+42T= (n.3942+42T=) c.3855+42T= (n.3855+42T=) c.3663+42T= (n.3663+42T=) c.3438+42T= (n.3438+42T=) c.3120+42T= (n.3120+42T=) c.4029+42T= (n.4029+42T=) | |
| 13 | g.101081485A>C | CA255407010 | NALCN | c.3885+42T>G (n.3885+42T>G) c.3606+42T>G (n.3606+42T>G) c.3972+42T>G (n.3972+42T>G) c.3798+42T>G (n.3798+42T>G) c.3942+42T>G (n.3942+42T>G) c.3855+42T>G (n.3855+42T>G) c.3663+42T>G (n.3663+42T>G) c.3438+42T>G (n.3438+42T>G) c.3120+42T>G (n.3120+42T>G) c.4029+42T>G (n.4029+42T>G) | dbSNP |
| 13 | g.101081486C>A | CA2575448052 | NALCN | c.3885+41G>T (n.3885+41G>T) c.3606+41G>T (n.3606+41G>T) c.3972+41G>T (n.3972+41G>T) c.3798+41G>T (n.3798+41G>T) c.3942+41G>T (n.3942+41G>T) c.3855+41G>T (n.3855+41G>T) c.3663+41G>T (n.3663+41G>T) c.3438+41G>T (n.3438+41G>T) c.3120+41G>T (n.3120+41G>T) c.4029+41G>T (n.4029+41G>T) | |
| 13 | g.101081486C>G | CA2575448053 | NALCN | c.3885+41G>C (n.3885+41G>C) c.3606+41G>C (n.3606+41G>C) c.3972+41G>C (n.3972+41G>C) c.3798+41G>C (n.3798+41G>C) c.3942+41G>C (n.3942+41G>C) c.3855+41G>C (n.3855+41G>C) c.3663+41G>C (n.3663+41G>C) c.3438+41G>C (n.3438+41G>C) c.3120+41G>C (n.3120+41G>C) c.4029+41G>C (n.4029+41G>C) | gnomAD v4 |
| 13 | g.101081486C>T | CA2623578291 | NALCN | c.3885+41G>A (n.3885+41G>A) c.3606+41G>A (n.3606+41G>A) c.3972+41G>A (n.3972+41G>A) c.3798+41G>A (n.3798+41G>A) c.3942+41G>A (n.3942+41G>A) c.3855+41G>A (n.3855+41G>A) c.3663+41G>A (n.3663+41G>A) c.3438+41G>A (n.3438+41G>A) c.3120+41G>A (n.3120+41G>A) c.4029+41G>A (n.4029+41G>A) | gnomAD v4 |
| 13 | g.101081487T>C | CA2623578292 | NALCN | c.3885+40A>G (n.3885+40A>G) c.3606+40A>G (n.3606+40A>G) c.3972+40A>G (n.3972+40A>G) c.3798+40A>G (n.3798+40A>G) c.3942+40A>G (n.3942+40A>G) c.3855+40A>G (n.3855+40A>G) c.3663+40A>G (n.3663+40A>G) c.3438+40A>G (n.3438+40A>G) c.3120+40A>G (n.3120+40A>G) c.4029+40A>G (n.4029+40A>G) | gnomAD v4 |
| 13 | g.101081487T>G | CA2114388811 | NALCN | c.3885+40A>C (n.3885+40A>C) c.3606+40A>C (n.3606+40A>C) c.3972+40A>C (n.3972+40A>C) c.3798+40A>C (n.3798+40A>C) c.3942+40A>C (n.3942+40A>C) c.3855+40A>C (n.3855+40A>C) c.3663+40A>C (n.3663+40A>C) c.3438+40A>C (n.3438+40A>C) c.3120+40A>C (n.3120+40A>C) c.4029+40A>C (n.4029+40A>C) | dbSNP gnomAD v4 |
| 13 | g.101081487T= | CA2114388810 | NALCN | c.3885+40A= (n.3885+40A=) c.3606+40A= (n.3606+40A=) c.3972+40A= (n.3972+40A=) c.3798+40A= (n.3798+40A=) c.3942+40A= (n.3942+40A=) c.3855+40A= (n.3855+40A=) c.3663+40A= (n.3663+40A=) c.3438+40A= (n.3438+40A=) c.3120+40A= (n.3120+40A=) c.4029+40A= (n.4029+40A=) | |
| 13 | g.101081488G>A | CA2623578293 | NALCN | c.3885+39C>T (n.3885+39C>T) c.3606+39C>T (n.3606+39C>T) c.3972+39C>T (n.3972+39C>T) c.3798+39C>T (n.3798+39C>T) c.3942+39C>T (n.3942+39C>T) c.3855+39C>T (n.3855+39C>T) c.3663+39C>T (n.3663+39C>T) c.3438+39C>T (n.3438+39C>T) c.3120+39C>T (n.3120+39C>T) c.4029+39C>T (n.4029+39C>T) | gnomAD v4 |
| 13 | g.101081491A= | CA2114388812 | NALCN | c.3885+36T= (n.3885+36T=) c.3606+36T= (n.3606+36T=) c.3972+36T= (n.3972+36T=) c.3798+36T= (n.3798+36T=) c.3942+36T= (n.3942+36T=) c.3855+36T= (n.3855+36T=) c.3663+36T= (n.3663+36T=) c.3438+36T= (n.3438+36T=) c.3120+36T= (n.3120+36T=) c.4029+36T= (n.4029+36T=) | |
| 13 | g.101081491A>T | CA611945692 | NALCN | c.3885+36T>A (n.3885+36T>A) c.3606+36T>A (n.3606+36T>A) c.3972+36T>A (n.3972+36T>A) c.3798+36T>A (n.3798+36T>A) c.3942+36T>A (n.3942+36T>A) c.3855+36T>A (n.3855+36T>A) c.3663+36T>A (n.3663+36T>A) c.3438+36T>A (n.3438+36T>A) c.3120+36T>A (n.3120+36T>A) c.4029+36T>A (n.4029+36T>A) | dbSNP gnomAD v2 |
| 13 | g.101081494A= | CA2114388813 | NALCN | c.3885+33T= (n.3885+33T=) c.3606+33T= (n.3606+33T=) c.3972+33T= (n.3972+33T=) c.3798+33T= (n.3798+33T=) c.3942+33T= (n.3942+33T=) c.3855+33T= (n.3855+33T=) c.3663+33T= (n.3663+33T=) c.3438+33T= (n.3438+33T=) c.3120+33T= (n.3120+33T=) c.4029+33T= (n.4029+33T=) | |
| 13 | g.101081494A>C | CA2623578294 | NALCN | c.3885+33T>G (n.3885+33T>G) c.3606+33T>G (n.3606+33T>G) c.3972+33T>G (n.3972+33T>G) c.3798+33T>G (n.3798+33T>G) c.3942+33T>G (n.3942+33T>G) c.3855+33T>G (n.3855+33T>G) c.3663+33T>G (n.3663+33T>G) c.3438+33T>G (n.3438+33T>G) c.3120+33T>G (n.3120+33T>G) c.4029+33T>G (n.4029+33T>G) | gnomAD v4 |
| 13 | g.101081494A>G | CA959541891 | NALCN | c.3885+33T>C (n.3885+33T>C) c.3606+33T>C (n.3606+33T>C) c.3972+33T>C (n.3972+33T>C) c.3798+33T>C (n.3798+33T>C) c.3942+33T>C (n.3942+33T>C) c.3855+33T>C (n.3855+33T>C) c.3663+33T>C (n.3663+33T>C) c.3438+33T>C (n.3438+33T>C) c.3120+33T>C (n.3120+33T>C) c.4029+33T>C (n.4029+33T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.101081494_101081495insG | CA913877932 | NALCN | c.3885+32_3885+33insC (n.3885+32_3885+33insC) c.3606+32_3606+33insC (n.3606+32_3606+33insC) c.3972+32_3972+33insC (n.3972+32_3972+33insC) c.3798+32_3798+33insC (n.3798+32_3798+33insC) c.3942+32_3942+33insC (n.3942+32_3942+33insC) c.3855+32_3855+33insC (n.3855+32_3855+33insC) c.3663+32_3663+33insC (n.3663+32_3663+33insC) c.3438+32_3438+33insC (n.3438+32_3438+33insC) c.3120+32_3120+33insC (n.3120+32_3120+33insC) c.4029+32_4029+33insC (n.4029+32_4029+33insC) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101081495T>C | CA2623578295 | NALCN | c.3885+32A>G (n.3885+32A>G) c.3606+32A>G (n.3606+32A>G) c.3972+32A>G (n.3972+32A>G) c.3798+32A>G (n.3798+32A>G) c.3942+32A>G (n.3942+32A>G) c.3855+32A>G (n.3855+32A>G) c.3663+32A>G (n.3663+32A>G) c.3438+32A>G (n.3438+32A>G) c.3120+32A>G (n.3120+32A>G) c.4029+32A>G (n.4029+32A>G) | gnomAD v4 |
| 13 | g.101081495T>G | CA913877933 | NALCN | c.3885+32A>C (n.3885+32A>C) c.3606+32A>C (n.3606+32A>C) c.3972+32A>C (n.3972+32A>C) c.3798+32A>C (n.3798+32A>C) c.3942+32A>C (n.3942+32A>C) c.3855+32A>C (n.3855+32A>C) c.3663+32A>C (n.3663+32A>C) c.3438+32A>C (n.3438+32A>C) c.3120+32A>C (n.3120+32A>C) c.4029+32A>C (n.4029+32A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101081495T= | CA2114388814 | NALCN | c.3885+32A= (n.3885+32A=) c.3606+32A= (n.3606+32A=) c.3972+32A= (n.3972+32A=) c.3798+32A= (n.3798+32A=) c.3942+32A= (n.3942+32A=) c.3855+32A= (n.3855+32A=) c.3663+32A= (n.3663+32A=) c.3438+32A= (n.3438+32A=) c.3120+32A= (n.3120+32A=) c.4029+32A= (n.4029+32A=) | |
| 13 | g.101081497A= | CA2114388815 | NALCN | c.3885+30T= (n.3885+30T=) c.3606+30T= (n.3606+30T=) c.3972+30T= (n.3972+30T=) c.3798+30T= (n.3798+30T=) c.3942+30T= (n.3942+30T=) c.3855+30T= (n.3855+30T=) c.3663+30T= (n.3663+30T=) c.3438+30T= (n.3438+30T=) c.3120+30T= (n.3120+30T=) c.4029+30T= (n.4029+30T=) | |
| 13 | g.101081497A>G | CA611945693 | NALCN | c.3885+30T>C (n.3885+30T>C) c.3606+30T>C (n.3606+30T>C) c.3972+30T>C (n.3972+30T>C) c.3798+30T>C (n.3798+30T>C) c.3942+30T>C (n.3942+30T>C) c.3855+30T>C (n.3855+30T>C) c.3663+30T>C (n.3663+30T>C) c.3438+30T>C (n.3438+30T>C) c.3120+30T>C (n.3120+30T>C) c.4029+30T>C (n.4029+30T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.101081498G>A | CA2623578296 | NALCN | c.3885+29C>T (n.3885+29C>T) c.3606+29C>T (n.3606+29C>T) c.3972+29C>T (n.3972+29C>T) c.3798+29C>T (n.3798+29C>T) c.3942+29C>T (n.3942+29C>T) c.3855+29C>T (n.3855+29C>T) c.3663+29C>T (n.3663+29C>T) c.3438+29C>T (n.3438+29C>T) c.3120+29C>T (n.3120+29C>T) c.4029+29C>T (n.4029+29C>T) | gnomAD v4 |
| 13 | g.101081498G>C | CA7035267 | NALCN | c.3885+29C>G (n.3885+29C>G) c.3606+29C>G (n.3606+29C>G) c.3972+29C>G (n.3972+29C>G) c.3798+29C>G (n.3798+29C>G) c.3942+29C>G (n.3942+29C>G) c.3855+29C>G (n.3855+29C>G) c.3663+29C>G (n.3663+29C>G) c.3438+29C>G (n.3438+29C>G) c.3120+29C>G (n.3120+29C>G) c.4029+29C>G (n.4029+29C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101081498G= | CA2114388816 | NALCN | c.3885+29C= (n.3885+29C=) c.3606+29C= (n.3606+29C=) c.3972+29C= (n.3972+29C=) c.3798+29C= (n.3798+29C=) c.3942+29C= (n.3942+29C=) c.3855+29C= (n.3855+29C=) c.3663+29C= (n.3663+29C=) c.3438+29C= (n.3438+29C=) c.3120+29C= (n.3120+29C=) c.4029+29C= (n.4029+29C=) | |
| 13 | g.101081500T>A | CA2728876344 | NALCN | c.3885+27A>T (n.3885+27A>T) c.3606+27A>T (n.3606+27A>T) c.3972+27A>T (n.3972+27A>T) c.3798+27A>T (n.3798+27A>T) c.3942+27A>T (n.3942+27A>T) c.3855+27A>T (n.3855+27A>T) c.3663+27A>T (n.3663+27A>T) c.3438+27A>T (n.3438+27A>T) c.3120+27A>T (n.3120+27A>T) c.4029+27A>T (n.4029+27A>T) | dbSNP |
| 13 | g.101081501G>A | CA2623578297 | NALCN | c.3885+26C>T (n.3885+26C>T) c.3606+26C>T (n.3606+26C>T) c.3972+26C>T (n.3972+26C>T) c.3798+26C>T (n.3798+26C>T) c.3942+26C>T (n.3942+26C>T) c.3855+26C>T (n.3855+26C>T) c.3663+26C>T (n.3663+26C>T) c.3438+26C>T (n.3438+26C>T) c.3120+26C>T (n.3120+26C>T) c.4029+26C>T (n.4029+26C>T) | gnomAD v4 |
| 13 | g.101081502A>C | CA2623578298 | NALCN | c.3885+25T>G (n.3885+25T>G) c.3606+25T>G (n.3606+25T>G) c.3972+25T>G (n.3972+25T>G) c.3798+25T>G (n.3798+25T>G) c.3942+25T>G (n.3942+25T>G) c.3855+25T>G (n.3855+25T>G) c.3663+25T>G (n.3663+25T>G) c.3438+25T>G (n.3438+25T>G) c.3120+25T>G (n.3120+25T>G) c.4029+25T>G (n.4029+25T>G) | gnomAD v4 |
| 13 | g.101081506C>A | CA7035268 | NALCN | c.3885+21G>T (n.3885+21G>T) c.3606+21G>T (n.3606+21G>T) c.3972+21G>T (n.3972+21G>T) c.3798+21G>T (n.3798+21G>T) c.3942+21G>T (n.3942+21G>T) c.3855+21G>T (n.3855+21G>T) c.3663+21G>T (n.3663+21G>T) c.3438+21G>T (n.3438+21G>T) c.3120+21G>T (n.3120+21G>T) c.4029+21G>T (n.4029+21G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101081506C= | CA2114388817 | NALCN | c.3885+21G= (n.3885+21G=) c.3606+21G= (n.3606+21G=) c.3972+21G= (n.3972+21G=) c.3798+21G= (n.3798+21G=) c.3942+21G= (n.3942+21G=) c.3855+21G= (n.3855+21G=) c.3663+21G= (n.3663+21G=) c.3438+21G= (n.3438+21G=) c.3120+21G= (n.3120+21G=) c.4029+21G= (n.4029+21G=) | |
| 13 | g.101081507_101081511del | CA2800368543 | NALCN | c.3885+16_3885+20del (n.3885+16_3885+20del) c.3606+16_3606+20del (n.3606+16_3606+20del) c.3972+16_3972+20del (n.3972+16_3972+20del) c.3798+16_3798+20del (n.3798+16_3798+20del) c.3942+16_3942+20del (n.3942+16_3942+20del) c.3855+16_3855+20del (n.3855+16_3855+20del) c.3663+16_3663+20del (n.3663+16_3663+20del) c.3438+16_3438+20del (n.3438+16_3438+20del) c.3120+16_3120+20del (n.3120+16_3120+20del) c.4029+16_4029+20del (n.4029+16_4029+20del) | |
| 13 | g.101081507_101081512delinsAACTTG | CA2114388818 | NALCN | c.3885+15_3885+20delinsCAAGTT (n.3885+15_3885+20delinsCAAGTT) c.3606+15_3606+20delinsCAAGTT (n.3606+15_3606+20delinsCAAGTT) c.3972+15_3972+20delinsCAAGTT (n.3972+15_3972+20delinsCAAGTT) c.3798+15_3798+20delinsCAAGTT (n.3798+15_3798+20delinsCAAGTT) c.3942+15_3942+20delinsCAAGTT (n.3942+15_3942+20delinsCAAGTT) c.3855+15_3855+20delinsCAAGTT (n.3855+15_3855+20delinsCAAGTT) c.3663+15_3663+20delinsCAAGTT (n.3663+15_3663+20delinsCAAGTT) c.3438+15_3438+20delinsCAAGTT (n.3438+15_3438+20delinsCAAGTT) c.3120+15_3120+20delinsCAAGTT (n.3120+15_3120+20delinsCAAGTT) c.4029+15_4029+20delinsCAAGTT (n.4029+15_4029+20delinsCAAGTT) | |
| 13 | g.101081508A= | CA2114388819 | NALCN | c.3885+19T= (n.3885+19T=) c.3606+19T= (n.3606+19T=) c.3972+19T= (n.3972+19T=) c.3798+19T= (n.3798+19T=) c.3942+19T= (n.3942+19T=) c.3855+19T= (n.3855+19T=) c.3663+19T= (n.3663+19T=) c.3438+19T= (n.3438+19T=) c.3120+19T= (n.3120+19T=) c.4029+19T= (n.4029+19T=) | |
| 13 | g.101081508A>C | CA7035271 | NALCN | c.3885+19T>G (n.3885+19T>G) c.3606+19T>G (n.3606+19T>G) c.3972+19T>G (n.3972+19T>G) c.3798+19T>G (n.3798+19T>G) c.3942+19T>G (n.3942+19T>G) c.3855+19T>G (n.3855+19T>G) c.3663+19T>G (n.3663+19T>G) c.3438+19T>G (n.3438+19T>G) c.3120+19T>G (n.3120+19T>G) c.4029+19T>G (n.4029+19T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101081508A>G | CA7035270 | NALCN | c.3885+19T>C (n.3885+19T>C) c.3606+19T>C (n.3606+19T>C) c.3972+19T>C (n.3972+19T>C) c.3798+19T>C (n.3798+19T>C) c.3942+19T>C (n.3942+19T>C) c.3855+19T>C (n.3855+19T>C) c.3663+19T>C (n.3663+19T>C) c.3438+19T>C (n.3438+19T>C) c.3120+19T>C (n.3120+19T>C) c.4029+19T>C (n.4029+19T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101081512_101081516del | CA7035269 | NALCN | c.3885+15_3885+19del (n.3885+15_3885+19del) c.3606+15_3606+19del (n.3606+15_3606+19del) c.3972+15_3972+19del (n.3972+15_3972+19del) c.3798+15_3798+19del (n.3798+15_3798+19del) c.3942+15_3942+19del (n.3942+15_3942+19del) c.3855+15_3855+19del (n.3855+15_3855+19del) c.3663+15_3663+19del (n.3663+15_3663+19del) c.3438+15_3438+19del (n.3438+15_3438+19del) c.3120+15_3120+19del (n.3120+15_3120+19del) c.4029+15_4029+19del (n.4029+15_4029+19del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101081509C>T | CA2623578299 | NALCN | c.3885+18G>A (n.3885+18G>A) c.3606+18G>A (n.3606+18G>A) c.3972+18G>A (n.3972+18G>A) c.3798+18G>A (n.3798+18G>A) c.3942+18G>A (n.3942+18G>A) c.3855+18G>A (n.3855+18G>A) c.3663+18G>A (n.3663+18G>A) c.3438+18G>A (n.3438+18G>A) c.3120+18G>A (n.3120+18G>A) c.4029+18G>A (n.4029+18G>A) | gnomAD v4 |
| 13 | g.101081510T>C | CA2740097688 | NALCN | c.3885+17A>G (n.3885+17A>G) c.3606+17A>G (n.3606+17A>G) c.3972+17A>G (n.3972+17A>G) c.3798+17A>G (n.3798+17A>G) c.3942+17A>G (n.3942+17A>G) c.3855+17A>G (n.3855+17A>G) c.3663+17A>G (n.3663+17A>G) c.3438+17A>G (n.3438+17A>G) c.3120+17A>G (n.3120+17A>G) c.4029+17A>G (n.4029+17A>G) | ClinVar |
| 13 | g.101081511T>A | CA2575448054 | NALCN | c.3885+16A>T (n.3885+16A>T) c.3606+16A>T (n.3606+16A>T) c.3972+16A>T (n.3972+16A>T) c.3798+16A>T (n.3798+16A>T) c.3942+16A>T (n.3942+16A>T) c.3855+16A>T (n.3855+16A>T) c.3663+16A>T (n.3663+16A>T) c.3438+16A>T (n.3438+16A>T) c.3120+16A>T (n.3120+16A>T) c.4029+16A>T (n.4029+16A>T) | |
| 13 | g.101081512G>T | CA2623578300 | NALCN | c.3885+15C>A (n.3885+15C>A) c.3606+15C>A (n.3606+15C>A) c.3972+15C>A (n.3972+15C>A) c.3798+15C>A (n.3798+15C>A) c.3942+15C>A (n.3942+15C>A) c.3855+15C>A (n.3855+15C>A) c.3663+15C>A (n.3663+15C>A) c.3438+15C>A (n.3438+15C>A) c.3120+15C>A (n.3120+15C>A) c.4029+15C>A (n.4029+15C>A) | gnomAD v4 |
| 13 | g.101081514C= | CA2114388820 | NALCN | c.3885+13G= (n.3885+13G=) c.3606+13G= (n.3606+13G=) c.3972+13G= (n.3972+13G=) c.3798+13G= (n.3798+13G=) c.3942+13G= (n.3942+13G=) c.3855+13G= (n.3855+13G=) c.3663+13G= (n.3663+13G=) c.3438+13G= (n.3438+13G=) c.3120+13G= (n.3120+13G=) c.4029+13G= (n.4029+13G=) | |
| 13 | g.101081514C>T | CA7035272 | NALCN | c.3885+13G>A (n.3885+13G>A) c.3606+13G>A (n.3606+13G>A) c.3972+13G>A (n.3972+13G>A) c.3798+13G>A (n.3798+13G>A) c.3942+13G>A (n.3942+13G>A) c.3855+13G>A (n.3855+13G>A) c.3663+13G>A (n.3663+13G>A) c.3438+13G>A (n.3438+13G>A) c.3120+13G>A (n.3120+13G>A) c.4029+13G>A (n.4029+13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101081516T>A | CA2728539133 | NALCN | c.3885+11A>T (n.3885+11A>T) c.3606+11A>T (n.3606+11A>T) c.3972+11A>T (n.3972+11A>T) c.3798+11A>T (n.3798+11A>T) c.3942+11A>T (n.3942+11A>T) c.3855+11A>T (n.3855+11A>T) c.3663+11A>T (n.3663+11A>T) c.3438+11A>T (n.3438+11A>T) c.3120+11A>T (n.3120+11A>T) c.4029+11A>T (n.4029+11A>T) | dbSNP |
| 13 | g.101081516T>C | CA611945694 | NALCN | c.3885+11A>G (n.3885+11A>G) c.3606+11A>G (n.3606+11A>G) c.3972+11A>G (n.3972+11A>G) c.3798+11A>G (n.3798+11A>G) c.3942+11A>G (n.3942+11A>G) c.3855+11A>G (n.3855+11A>G) c.3663+11A>G (n.3663+11A>G) c.3438+11A>G (n.3438+11A>G) c.3120+11A>G (n.3120+11A>G) c.4029+11A>G (n.4029+11A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.101081516T= | CA2114388821 | NALCN | c.3885+11A= (n.3885+11A=) c.3606+11A= (n.3606+11A=) c.3972+11A= (n.3972+11A=) c.3798+11A= (n.3798+11A=) c.3942+11A= (n.3942+11A=) c.3855+11A= (n.3855+11A=) c.3663+11A= (n.3663+11A=) c.3438+11A= (n.3438+11A=) c.3120+11A= (n.3120+11A=) c.4029+11A= (n.4029+11A=) | |
| 13 | g.101081517C>A | CA2623578301 | NALCN | c.3885+10G>T (n.3885+10G>T) c.3606+10G>T (n.3606+10G>T) c.3972+10G>T (n.3972+10G>T) c.3798+10G>T (n.3798+10G>T) c.3942+10G>T (n.3942+10G>T) c.3855+10G>T (n.3855+10G>T) c.3663+10G>T (n.3663+10G>T) c.3438+10G>T (n.3438+10G>T) c.3120+10G>T (n.3120+10G>T) c.4029+10G>T (n.4029+10G>T) | dbSNP gnomAD v4 |
| 13 | g.101081517C= | CA2114388822 | NALCN | c.3885+10G= (n.3885+10G=) c.3606+10G= (n.3606+10G=) c.3972+10G= (n.3972+10G=) c.3798+10G= (n.3798+10G=) c.3942+10G= (n.3942+10G=) c.3855+10G= (n.3855+10G=) c.3663+10G= (n.3663+10G=) c.3438+10G= (n.3438+10G=) c.3120+10G= (n.3120+10G=) c.4029+10G= (n.4029+10G=) | |
| 13 | g.101081517C>G | CA611945695 | NALCN | c.3885+10G>C (n.3885+10G>C) c.3606+10G>C (n.3606+10G>C) c.3972+10G>C (n.3972+10G>C) c.3798+10G>C (n.3798+10G>C) c.3942+10G>C (n.3942+10G>C) c.3855+10G>C (n.3855+10G>C) c.3663+10G>C (n.3663+10G>C) c.3438+10G>C (n.3438+10G>C) c.3120+10G>C (n.3120+10G>C) c.4029+10G>C (n.4029+10G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.101081517C>T | CA2623578302 | NALCN | c.3885+10G>A (n.3885+10G>A) c.3606+10G>A (n.3606+10G>A) c.3972+10G>A (n.3972+10G>A) c.3798+10G>A (n.3798+10G>A) c.3942+10G>A (n.3942+10G>A) c.3855+10G>A (n.3855+10G>A) c.3663+10G>A (n.3663+10G>A) c.3438+10G>A (n.3438+10G>A) c.3120+10G>A (n.3120+10G>A) c.4029+10G>A (n.4029+10G>A) | gnomAD v4 |
| 13 | g.101081517_101081522del | CA2575448055 | NALCN | c.3885+5_3885+10del (n.3885+5_3885+10del) c.3606+5_3606+10del (n.3606+5_3606+10del) c.3972+5_3972+10del (n.3972+5_3972+10del) c.3798+5_3798+10del (n.3798+5_3798+10del) c.3942+5_3942+10del (n.3942+5_3942+10del) c.3855+5_3855+10del (n.3855+5_3855+10del) c.3663+5_3663+10del (n.3663+5_3663+10del) c.3438+5_3438+10del (n.3438+5_3438+10del) c.3120+5_3120+10del (n.3120+5_3120+10del) c.4029+5_4029+10del (n.4029+5_4029+10del) | |
| 13 | g.101081518del | CA2623578303 | NALCN | c.3885+9del (n.3885+9del) c.3606+9del (n.3606+9del) c.3972+9del (n.3972+9del) c.3798+9del (n.3798+9del) c.3942+9del (n.3942+9del) c.3855+9del (n.3855+9del) c.3663+9del (n.3663+9del) c.3438+9del (n.3438+9del) c.3120+9del (n.3120+9del) c.4029+9del (n.4029+9del) | gnomAD v4 |
| 13 | g.101081519A= | CA2114388823 | NALCN | c.3885+8T= (n.3885+8T=) c.3606+8T= (n.3606+8T=) c.3972+8T= (n.3972+8T=) c.3798+8T= (n.3798+8T=) c.3942+8T= (n.3942+8T=) c.3855+8T= (n.3855+8T=) c.3663+8T= (n.3663+8T=) c.3438+8T= (n.3438+8T=) c.3120+8T= (n.3120+8T=) c.4029+8T= (n.4029+8T=) | |
| 13 | g.101081519A>G | CA484551695 | NALCN | c.3885+8T>C (n.3885+8T>C) c.3606+8T>C (n.3606+8T>C) c.3972+8T>C (n.3972+8T>C) c.3798+8T>C (n.3798+8T>C) c.3942+8T>C (n.3942+8T>C) c.3855+8T>C (n.3855+8T>C) c.3663+8T>C (n.3663+8T>C) c.3438+8T>C (n.3438+8T>C) c.3120+8T>C (n.3120+8T>C) c.4029+8T>C (n.4029+8T>C) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 13 | g.101081520del | CA2623578304 | NALCN | c.3885+7del (n.3885+7del) c.3606+7del (n.3606+7del) c.3972+7del (n.3972+7del) c.3798+7del (n.3798+7del) c.3942+7del (n.3942+7del) c.3855+7del (n.3855+7del) c.3663+7del (n.3663+7del) c.3438+7del (n.3438+7del) c.3120+7del (n.3120+7del) c.4029+7del (n.4029+7del) | gnomAD v4 |
| 13 | g.101081520T>A | CA2623578305 | NALCN | c.3885+7A>T (n.3885+7A>T) c.3606+7A>T (n.3606+7A>T) c.3972+7A>T (n.3972+7A>T) c.3798+7A>T (n.3798+7A>T) c.3942+7A>T (n.3942+7A>T) c.3855+7A>T (n.3855+7A>T) c.3663+7A>T (n.3663+7A>T) c.3438+7A>T (n.3438+7A>T) c.3120+7A>T (n.3120+7A>T) c.4029+7A>T (n.4029+7A>T) | gnomAD v4 |
| 13 | g.101081520T>C | CA7035273 | NALCN | c.3885+7A>G (n.3885+7A>G) c.3606+7A>G (n.3606+7A>G) c.3972+7A>G (n.3972+7A>G) c.3798+7A>G (n.3798+7A>G) c.3942+7A>G (n.3942+7A>G) c.3855+7A>G (n.3855+7A>G) c.3663+7A>G (n.3663+7A>G) c.3438+7A>G (n.3438+7A>G) c.3120+7A>G (n.3120+7A>G) c.4029+7A>G (n.4029+7A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101081520T>G | CA2575448056 | NALCN | c.3885+7A>C (n.3885+7A>C) c.3606+7A>C (n.3606+7A>C) c.3972+7A>C (n.3972+7A>C) c.3798+7A>C (n.3798+7A>C) c.3942+7A>C (n.3942+7A>C) c.3855+7A>C (n.3855+7A>C) c.3663+7A>C (n.3663+7A>C) c.3438+7A>C (n.3438+7A>C) c.3120+7A>C (n.3120+7A>C) c.4029+7A>C (n.4029+7A>C) | gnomAD v4 |
| 13 | g.101081520T= | CA2114388824 | NALCN | c.3885+7A= (n.3885+7A=) c.3606+7A= (n.3606+7A=) c.3972+7A= (n.3972+7A=) c.3798+7A= (n.3798+7A=) c.3942+7A= (n.3942+7A=) c.3855+7A= (n.3855+7A=) c.3663+7A= (n.3663+7A=) c.3438+7A= (n.3438+7A=) c.3120+7A= (n.3120+7A=) c.4029+7A= (n.4029+7A=) | |
| 13 | g.101081521G>T | CA645583137 | NALCN | c.3885+6C>A (n.3885+6C>A) c.3606+6C>A (n.3606+6C>A) c.3972+6C>A (n.3972+6C>A) c.3798+6C>A (n.3798+6C>A) c.3942+6C>A (n.3942+6C>A) c.3855+6C>A (n.3855+6C>A) c.3663+6C>A (n.3663+6C>A) c.3438+6C>A (n.3438+6C>A) c.3120+6C>A (n.3120+6C>A) c.4029+6C>A (n.4029+6C>A) | COSMIC |
| 13 | g.101081522C>G | CA2623578306 | NALCN | c.3885+5G>C (n.3885+5G>C) c.3606+5G>C (n.3606+5G>C) c.3972+5G>C (n.3972+5G>C) c.3798+5G>C (n.3798+5G>C) c.3942+5G>C (n.3942+5G>C) c.3855+5G>C (n.3855+5G>C) c.3663+5G>C (n.3663+5G>C) c.3438+5G>C (n.3438+5G>C) c.3120+5G>C (n.3120+5G>C) c.4029+5G>C (n.4029+5G>C) | gnomAD v4 |
| 13 | g.101081523T>A | CA7035274 | NALCN | c.3885+4A>T (n.3885+4A>T) c.3606+4A>T (n.3606+4A>T) c.3972+4A>T (n.3972+4A>T) c.3798+4A>T (n.3798+4A>T) c.3942+4A>T (n.3942+4A>T) c.3855+4A>T (n.3855+4A>T) c.3663+4A>T (n.3663+4A>T) c.3438+4A>T (n.3438+4A>T) c.3120+4A>T (n.3120+4A>T) c.4029+4A>T (n.4029+4A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101081523T>C | CA694238612 | NALCN | c.3885+4A>G (n.3885+4A>G) c.3606+4A>G (n.3606+4A>G) c.3972+4A>G (n.3972+4A>G) c.3798+4A>G (n.3798+4A>G) c.3942+4A>G (n.3942+4A>G) c.3855+4A>G (n.3855+4A>G) c.3663+4A>G (n.3663+4A>G) c.3438+4A>G (n.3438+4A>G) c.3120+4A>G (n.3120+4A>G) c.4029+4A>G (n.4029+4A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.101081523T= | CA2114388825 | NALCN | c.3885+4A= (n.3885+4A=) c.3606+4A= (n.3606+4A=) c.3972+4A= (n.3972+4A=) c.3798+4A= (n.3798+4A=) c.3942+4A= (n.3942+4A=) c.3855+4A= (n.3855+4A=) c.3663+4A= (n.3663+4A=) c.3438+4A= (n.3438+4A=) c.3120+4A= (n.3120+4A=) c.4029+4A= (n.4029+4A=) | |
| 13 | g.101081525A>C | CA388650100 | NALCN | c.3885+2T>G (n.3885+2T>G) c.3606+2T>G (n.3606+2T>G) c.3972+2T>G (n.3972+2T>G) c.3798+2T>G (n.3798+2T>G) c.3942+2T>G (n.3942+2T>G) c.3855+2T>G (n.3855+2T>G) c.3663+2T>G (n.3663+2T>G) c.3438+2T>G (n.3438+2T>G) c.3120+2T>G (n.3120+2T>G) c.4029+2T>G (n.4029+2T>G) | |
| 13 | g.101081525A>G | CA388650102 | NALCN | c.3885+2T>C (n.3885+2T>C) c.3606+2T>C (n.3606+2T>C) c.3972+2T>C (n.3972+2T>C) c.3798+2T>C (n.3798+2T>C) c.3942+2T>C (n.3942+2T>C) c.3855+2T>C (n.3855+2T>C) c.3663+2T>C (n.3663+2T>C) c.3438+2T>C (n.3438+2T>C) c.3120+2T>C (n.3120+2T>C) c.4029+2T>C (n.4029+2T>C) | gnomAD v4 |
| 13 | g.101081525A>T | CA388650104 | NALCN | c.3885+2T>A (n.3885+2T>A) c.3606+2T>A (n.3606+2T>A) c.3972+2T>A (n.3972+2T>A) c.3798+2T>A (n.3798+2T>A) c.3942+2T>A (n.3942+2T>A) c.3855+2T>A (n.3855+2T>A) c.3663+2T>A (n.3663+2T>A) c.3438+2T>A (n.3438+2T>A) c.3120+2T>A (n.3120+2T>A) c.4029+2T>A (n.4029+2T>A) | |
| 13 | g.101081526C>A | CA388650108 | NALCN | c.3885+1G>T (n.3885+1G>T) c.3606+1G>T (n.3606+1G>T) c.3972+1G>T (n.3972+1G>T) c.3798+1G>T (n.3798+1G>T) c.3942+1G>T (n.3942+1G>T) c.3855+1G>T (n.3855+1G>T) c.3663+1G>T (n.3663+1G>T) c.3438+1G>T (n.3438+1G>T) c.3120+1G>T (n.3120+1G>T) c.4029+1G>T (n.4029+1G>T) | |
| 13 | g.101081526C>G | CA388650109 | NALCN | c.3885+1G>C (n.3885+1G>C) c.3606+1G>C (n.3606+1G>C) c.3972+1G>C (n.3972+1G>C) c.3798+1G>C (n.3798+1G>C) c.3942+1G>C (n.3942+1G>C) c.3855+1G>C (n.3855+1G>C) c.3663+1G>C (n.3663+1G>C) c.3438+1G>C (n.3438+1G>C) c.3120+1G>C (n.3120+1G>C) c.4029+1G>C (n.4029+1G>C) | |
| 13 | g.101081526C>T | CA388650111 | NALCN | c.3885+1G>A (n.3885+1G>A) c.3606+1G>A (n.3606+1G>A) c.3972+1G>A (n.3972+1G>A) c.3798+1G>A (n.3798+1G>A) c.3942+1G>A (n.3942+1G>A) c.3855+1G>A (n.3855+1G>A) c.3663+1G>A (n.3663+1G>A) c.3438+1G>A (n.3438+1G>A) c.3120+1G>A (n.3120+1G>A) c.4029+1G>A (n.4029+1G>A) | |
| 13 | g.101081527C>A | CA484551715 | NALCN | c.3885G>T (p.Leu1295=) c.3606G>T (p.Leu1202=) c.3972G>T (p.Leu1324=) c.3798G>T (p.Leu1266=) c.3942G>T (p.Leu1314=) c.3855G>T (p.Leu1285=) c.3663G>T (p.Leu1221=) c.3438G>T (p.Leu1146=) c.3120G>T (p.Leu1040=) c.4029G>T (p.Leu1343=) | |
| 13 | g.101081527C= | CA2114388826 | NALCN | c.3885G= (p.Leu1295=) c.3606G= (p.Leu1202=) c.3972G= (p.Leu1324=) c.3798G= (p.Leu1266=) c.3942G= (p.Leu1314=) c.3855G= (p.Leu1285=) c.3663G= (p.Leu1221=) c.3438G= (p.Leu1146=) c.3120G= (p.Leu1040=) c.4029G= (p.Leu1343=) | |
| 13 | g.101081527C>G | CA484551718 | NALCN | c.3885G>C (p.Leu1295=) c.3606G>C (p.Leu1202=) c.3972G>C (p.Leu1324=) c.3798G>C (p.Leu1266=) c.3942G>C (p.Leu1314=) c.3855G>C (p.Leu1285=) c.3663G>C (p.Leu1221=) c.3438G>C (p.Leu1146=) c.3120G>C (p.Leu1040=) c.4029G>C (p.Leu1343=) | |
| 13 | g.101081527C>T | CA255407043 | NALCN | c.3885G>A (p.Leu1295=) c.3606G>A (p.Leu1202=) c.3972G>A (p.Leu1324=) c.3798G>A (p.Leu1266=) c.3942G>A (p.Leu1314=) c.3855G>A (p.Leu1285=) c.3663G>A (p.Leu1221=) c.3438G>A (p.Leu1146=) c.3120G>A (p.Leu1040=) c.4029G>A (p.Leu1343=) | dbSNP |
| 13 | g.101081528A= | CA2114388827 | NALCN | c.3884T= (p.Leu1295=) c.3605T= (p.Leu1202=) c.3971T= (p.Leu1324=) c.3797T= (p.Leu1266=) c.3941T= (p.Leu1314=) c.3854T= (p.Leu1285=) c.3662T= (p.Leu1221=) c.3437T= (p.Leu1146=) c.3119T= (p.Leu1040=) c.4028T= (p.Leu1343=) | |
| 13 | g.101081528A>C | CA388650114 | NALCN | c.3884T>G (p.Leu1295Arg) c.3605T>G (p.Leu1202Arg) c.3971T>G (p.Leu1324Arg) c.3797T>G (p.Leu1266Arg) c.3941T>G (p.Leu1314Arg) c.3854T>G (p.Leu1285Arg) c.3662T>G (p.Leu1221Arg) c.3437T>G (p.Leu1146Arg) c.3119T>G (p.Leu1040Arg) c.4028T>G (p.Leu1343Arg) | |
| 13 | g.101081528A>G | CA388650115 | NALCN | c.3884T>C (p.Leu1295Pro) c.3605T>C (p.Leu1202Pro) c.3971T>C (p.Leu1324Pro) c.3797T>C (p.Leu1266Pro) c.3941T>C (p.Leu1314Pro) c.3854T>C (p.Leu1285Pro) c.3662T>C (p.Leu1221Pro) c.3437T>C (p.Leu1146Pro) c.3119T>C (p.Leu1040Pro) c.4028T>C (p.Leu1343Pro) | |
| 13 | g.101081528A>T | CA388650117 | NALCN | c.3884T>A (p.Leu1295Gln) c.3605T>A (p.Leu1202Gln) c.3971T>A (p.Leu1324Gln) c.3797T>A (p.Leu1266Gln) c.3941T>A (p.Leu1314Gln) c.3854T>A (p.Leu1285Gln) c.3662T>A (p.Leu1221Gln) c.3437T>A (p.Leu1146Gln) c.3119T>A (p.Leu1040Gln) c.4028T>A (p.Leu1343Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101081529G>A | CA484551726 | NALCN | c.3883C>T (p.Leu1295=) c.3604C>T (p.Leu1202=) c.3970C>T (p.Leu1324=) c.3796C>T (p.Leu1266=) c.3940C>T (p.Leu1314=) c.3853C>T (p.Leu1285=) c.3661C>T (p.Leu1221=) c.3436C>T (p.Leu1146=) c.3118C>T (p.Leu1040=) c.4027C>T (p.Leu1343=) | gnomAD v4 |
| 13 | g.101081529G>C | CA388650119 | NALCN | c.3883C>G (p.Leu1295Val) c.3604C>G (p.Leu1202Val) c.3970C>G (p.Leu1324Val) c.3796C>G (p.Leu1266Val) c.3940C>G (p.Leu1314Val) c.3853C>G (p.Leu1285Val) c.3661C>G (p.Leu1221Val) c.3436C>G (p.Leu1146Val) c.3118C>G (p.Leu1040Val) c.4027C>G (p.Leu1343Val) | |
| 13 | g.101081529G>T | CA388650121 | NALCN | c.3883C>A (p.Leu1295Met) c.3604C>A (p.Leu1202Met) c.3970C>A (p.Leu1324Met) c.3796C>A (p.Leu1266Met) c.3940C>A (p.Leu1314Met) c.3853C>A (p.Leu1285Met) c.3661C>A (p.Leu1221Met) c.3436C>A (p.Leu1146Met) c.3118C>A (p.Leu1040Met) c.4027C>A (p.Leu1343Met) | |
| 13 | g.101081530G>A | CA484551732 | NALCN | c.3882C>T (p.Leu1294=) c.3603C>T (p.Leu1201=) c.3969C>T (p.Leu1323=) c.3795C>T (p.Leu1265=) c.3939C>T (p.Leu1313=) c.3852C>T (p.Leu1284=) c.3660C>T (p.Leu1220=) c.3435C>T (p.Leu1145=) c.3117C>T (p.Leu1039=) c.4026C>T (p.Leu1342=) | gnomAD v4 |
| 13 | g.101081530G>C | CA484551734 | NALCN | c.3882C>G (p.Leu1294=) c.3603C>G (p.Leu1201=) c.3969C>G (p.Leu1323=) c.3795C>G (p.Leu1265=) c.3939C>G (p.Leu1313=) c.3852C>G (p.Leu1284=) c.3660C>G (p.Leu1220=) c.3435C>G (p.Leu1145=) c.3117C>G (p.Leu1039=) c.4026C>G (p.Leu1342=) | |
| 13 | g.101081530G>T | CA484551736 | NALCN | c.3882C>A (p.Leu1294=) c.3603C>A (p.Leu1201=) c.3969C>A (p.Leu1323=) c.3795C>A (p.Leu1265=) c.3939C>A (p.Leu1313=) c.3852C>A (p.Leu1284=) c.3660C>A (p.Leu1220=) c.3435C>A (p.Leu1145=) c.3117C>A (p.Leu1039=) c.4026C>A (p.Leu1342=) | gnomAD v4 |
| 13 | g.101081531A= | CA2114388828 | NALCN | c.3881T= (p.Leu1294=) c.3602T= (p.Leu1201=) c.3968T= (p.Leu1323=) c.3794T= (p.Leu1265=) c.3938T= (p.Leu1313=) c.3851T= (p.Leu1284=) c.3659T= (p.Leu1220=) c.3434T= (p.Leu1145=) c.3116T= (p.Leu1039=) c.4025T= (p.Leu1342=) | |
| 13 | g.101081531A>C | CA388650122 | NALCN | c.3881T>G (p.Leu1294Arg) c.3602T>G (p.Leu1201Arg) c.3968T>G (p.Leu1323Arg) c.3794T>G (p.Leu1265Arg) c.3938T>G (p.Leu1313Arg) c.3851T>G (p.Leu1284Arg) c.3659T>G (p.Leu1220Arg) c.3434T>G (p.Leu1145Arg) c.3116T>G (p.Leu1039Arg) c.4025T>G (p.Leu1342Arg) | |
| 13 | g.101081531A>G | CA255407045 | NALCN | c.3881T>C (p.Leu1294Pro) c.3602T>C (p.Leu1201Pro) c.3968T>C (p.Leu1323Pro) c.3794T>C (p.Leu1265Pro) c.3938T>C (p.Leu1313Pro) c.3851T>C (p.Leu1284Pro) c.3659T>C (p.Leu1220Pro) c.3434T>C (p.Leu1145Pro) c.3116T>C (p.Leu1039Pro) c.4025T>C (p.Leu1342Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.101081531A>T | CA388650124 | NALCN | c.3881T>A (p.Leu1294His) c.3602T>A (p.Leu1201His) c.3968T>A (p.Leu1323His) c.3794T>A (p.Leu1265His) c.3938T>A (p.Leu1313His) c.3851T>A (p.Leu1284His) c.3659T>A (p.Leu1220His) c.3434T>A (p.Leu1145His) c.3116T>A (p.Leu1039His) c.4025T>A (p.Leu1342His) | |
| 13 | g.101081532G>A | CA388650126 | NALCN | c.3880C>T (p.Leu1294Phe) c.3601C>T (p.Leu1201Phe) c.3967C>T (p.Leu1323Phe) c.3793C>T (p.Leu1265Phe) c.3937C>T (p.Leu1313Phe) c.3850C>T (p.Leu1284Phe) c.3658C>T (p.Leu1220Phe) c.3433C>T (p.Leu1145Phe) c.3115C>T (p.Leu1039Phe) c.4024C>T (p.Leu1342Phe) | |
| 13 | g.101081532G>C | CA388650127 | NALCN | c.3880C>G (p.Leu1294Val) c.3601C>G (p.Leu1201Val) c.3967C>G (p.Leu1323Val) c.3793C>G (p.Leu1265Val) c.3937C>G (p.Leu1313Val) c.3850C>G (p.Leu1284Val) c.3658C>G (p.Leu1220Val) c.3433C>G (p.Leu1145Val) c.3115C>G (p.Leu1039Val) c.4024C>G (p.Leu1342Val) | |
| 13 | g.101081532G>T | CA388650128 | NALCN | c.3880C>A (p.Leu1294Ile) c.3601C>A (p.Leu1201Ile) c.3967C>A (p.Leu1323Ile) c.3793C>A (p.Leu1265Ile) c.3937C>A (p.Leu1313Ile) c.3850C>A (p.Leu1284Ile) c.3658C>A (p.Leu1220Ile) c.3433C>A (p.Leu1145Ile) c.3115C>A (p.Leu1039Ile) c.4024C>A (p.Leu1342Ile) | |
| 13 | g.101081533G>A | CA484551756 | NALCN | c.3879C>T (p.Ala1293=) c.3600C>T (p.Ala1200=) c.3966C>T (p.Ala1322=) c.3792C>T (p.Ala1264=) c.3936C>T (p.Ala1312=) c.3849C>T (p.Ala1283=) c.3657C>T (p.Ala1219=) c.3432C>T (p.Ala1144=) c.3114C>T (p.Ala1038=) c.4023C>T (p.Ala1341=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101081533G>C | CA484551762 | NALCN | c.3879C>G (p.Ala1293=) c.3600C>G (p.Ala1200=) c.3966C>G (p.Ala1322=) c.3792C>G (p.Ala1264=) c.3936C>G (p.Ala1312=) c.3849C>G (p.Ala1283=) c.3657C>G (p.Ala1219=) c.3432C>G (p.Ala1144=) c.3114C>G (p.Ala1038=) c.4023C>G (p.Ala1341=) | |
| 13 | g.101081533G= | CA2114388829 | NALCN | c.3879C= (p.Ala1293=) c.3600C= (p.Ala1200=) c.3966C= (p.Ala1322=) c.3792C= (p.Ala1264=) c.3936C= (p.Ala1312=) c.3849C= (p.Ala1283=) c.3657C= (p.Ala1219=) c.3432C= (p.Ala1144=) c.3114C= (p.Ala1038=) c.4023C= (p.Ala1341=) | |
| 13 | g.101081533G>T | CA484551759 | NALCN | c.3879C>A (p.Ala1293=) c.3600C>A (p.Ala1200=) c.3966C>A (p.Ala1322=) c.3792C>A (p.Ala1264=) c.3936C>A (p.Ala1312=) c.3849C>A (p.Ala1283=) c.3657C>A (p.Ala1219=) c.3432C>A (p.Ala1144=) c.3114C>A (p.Ala1038=) c.4023C>A (p.Ala1341=) | |
| 13 | g.101081534G>A | CA388650134 | NALCN | c.3878C>T (p.Ala1293Val) c.3599C>T (p.Ala1200Val) c.3965C>T (p.Ala1322Val) c.3791C>T (p.Ala1264Val) c.3935C>T (p.Ala1312Val) c.3848C>T (p.Ala1283Val) c.3656C>T (p.Ala1219Val) c.3431C>T (p.Ala1144Val) c.3113C>T (p.Ala1038Val) c.4022C>T (p.Ala1341Val) | |
| 13 | g.101081534G>C | CA388650130 | NALCN | c.3878C>G (p.Ala1293Gly) c.3599C>G (p.Ala1200Gly) c.3965C>G (p.Ala1322Gly) c.3791C>G (p.Ala1264Gly) c.3935C>G (p.Ala1312Gly) c.3848C>G (p.Ala1283Gly) c.3656C>G (p.Ala1219Gly) c.3431C>G (p.Ala1144Gly) c.3113C>G (p.Ala1038Gly) c.4022C>G (p.Ala1341Gly) | |
| 13 | g.101081534G>T | CA388650132 | NALCN | c.3878C>A (p.Ala1293Asp) c.3599C>A (p.Ala1200Asp) c.3965C>A (p.Ala1322Asp) c.3791C>A (p.Ala1264Asp) c.3935C>A (p.Ala1312Asp) c.3848C>A (p.Ala1283Asp) c.3656C>A (p.Ala1219Asp) c.3431C>A (p.Ala1144Asp) c.3113C>A (p.Ala1038Asp) c.4022C>A (p.Ala1341Asp) | |
| 13 | g.101081535C>A | CA388650135 | NALCN | c.3877G>T (p.Ala1293Ser) c.3598G>T (p.Ala1200Ser) c.3964G>T (p.Ala1322Ser) c.3790G>T (p.Ala1264Ser) c.3934G>T (p.Ala1312Ser) c.3847G>T (p.Ala1283Ser) c.3655G>T (p.Ala1219Ser) c.3430G>T (p.Ala1144Ser) c.3112G>T (p.Ala1038Ser) c.4021G>T (p.Ala1341Ser) | |
| 13 | g.101081535C>G | CA388650136 | NALCN | c.3877G>C (p.Ala1293Pro) c.3598G>C (p.Ala1200Pro) c.3964G>C (p.Ala1322Pro) c.3790G>C (p.Ala1264Pro) c.3934G>C (p.Ala1312Pro) c.3847G>C (p.Ala1283Pro) c.3655G>C (p.Ala1219Pro) c.3430G>C (p.Ala1144Pro) c.3112G>C (p.Ala1038Pro) c.4021G>C (p.Ala1341Pro) | |
| 13 | g.101081535C>T | CA388650137 | NALCN | c.3877G>A (p.Ala1293Thr) c.3598G>A (p.Ala1200Thr) c.3964G>A (p.Ala1322Thr) c.3790G>A (p.Ala1264Thr) c.3934G>A (p.Ala1312Thr) c.3847G>A (p.Ala1283Thr) c.3655G>A (p.Ala1219Thr) c.3430G>A (p.Ala1144Thr) c.3112G>A (p.Ala1038Thr) c.4021G>A (p.Ala1341Thr) | |
| 13 | g.101081536A>C | CA388650139 | NALCN | c.3876T>G (p.Phe1292Leu) c.3597T>G (p.Phe1199Leu) c.3963T>G (p.Phe1321Leu) c.3789T>G (p.Phe1263Leu) c.3933T>G (p.Phe1311Leu) c.3846T>G (p.Phe1282Leu) c.3654T>G (p.Phe1218Leu) c.3429T>G (p.Phe1143Leu) c.3111T>G (p.Phe1037Leu) c.4020T>G (p.Phe1340Leu) | |
| 13 | g.101081536A>G | CA484551775 | NALCN | c.3876T>C (p.Phe1292=) c.3597T>C (p.Phe1199=) c.3963T>C (p.Phe1321=) c.3789T>C (p.Phe1263=) c.3933T>C (p.Phe1311=) c.3846T>C (p.Phe1282=) c.3654T>C (p.Phe1218=) c.3429T>C (p.Phe1143=) c.3111T>C (p.Phe1037=) c.4020T>C (p.Phe1340=) | |
| 13 | g.101081536A>T | CA388650140 | NALCN | c.3876T>A (p.Phe1292Leu) c.3597T>A (p.Phe1199Leu) c.3963T>A (p.Phe1321Leu) c.3789T>A (p.Phe1263Leu) c.3933T>A (p.Phe1311Leu) c.3846T>A (p.Phe1282Leu) c.3654T>A (p.Phe1218Leu) c.3429T>A (p.Phe1143Leu) c.3111T>A (p.Phe1037Leu) c.4020T>A (p.Phe1340Leu) | |
| 13 | g.101081537A= | CA2114388830 | NALCN | c.3875T= (p.Phe1292=) c.3596T= (p.Phe1199=) c.3962T= (p.Phe1321=) c.3788T= (p.Phe1263=) c.3932T= (p.Phe1311=) c.3845T= (p.Phe1282=) c.3653T= (p.Phe1218=) c.3428T= (p.Phe1143=) c.3110T= (p.Phe1037=) c.4019T= (p.Phe1340=) | |
| 13 | g.101081537A>C | CA388650142 | NALCN | c.3875T>G (p.Phe1292Cys) c.3596T>G (p.Phe1199Cys) c.3962T>G (p.Phe1321Cys) c.3788T>G (p.Phe1263Cys) c.3932T>G (p.Phe1311Cys) c.3845T>G (p.Phe1282Cys) c.3653T>G (p.Phe1218Cys) c.3428T>G (p.Phe1143Cys) c.3110T>G (p.Phe1037Cys) c.4019T>G (p.Phe1340Cys) | |
| 13 | g.101081537A>G | CA388650145 | NALCN | c.3875T>C (p.Phe1292Ser) c.3596T>C (p.Phe1199Ser) c.3962T>C (p.Phe1321Ser) c.3788T>C (p.Phe1263Ser) c.3932T>C (p.Phe1311Ser) c.3845T>C (p.Phe1282Ser) c.3653T>C (p.Phe1218Ser) c.3428T>C (p.Phe1143Ser) c.3110T>C (p.Phe1037Ser) c.4019T>C (p.Phe1340Ser) | dbSNP |
| 13 | g.101081537A>T | CA388650143 | NALCN | c.3875T>A (p.Phe1292Tyr) c.3596T>A (p.Phe1199Tyr) c.3962T>A (p.Phe1321Tyr) c.3788T>A (p.Phe1263Tyr) c.3932T>A (p.Phe1311Tyr) c.3845T>A (p.Phe1282Tyr) c.3653T>A (p.Phe1218Tyr) c.3428T>A (p.Phe1143Tyr) c.3110T>A (p.Phe1037Tyr) c.4019T>A (p.Phe1340Tyr) | |
| 13 | g.101081538A= | CA2114388831 | NALCN | c.3874T= (p.Phe1292=) c.3595T= (p.Phe1199=) c.3961T= (p.Phe1321=) c.3787T= (p.Phe1263=) c.3931T= (p.Phe1311=) c.3844T= (p.Phe1282=) c.3652T= (p.Phe1218=) c.3427T= (p.Phe1143=) c.3109T= (p.Phe1037=) c.4018T= (p.Phe1340=) | |
| 13 | g.101081538A>C | CA388650146 | NALCN | c.3874T>G (p.Phe1292Val) c.3595T>G (p.Phe1199Val) c.3961T>G (p.Phe1321Val) c.3787T>G (p.Phe1263Val) c.3931T>G (p.Phe1311Val) c.3844T>G (p.Phe1282Val) c.3652T>G (p.Phe1218Val) c.3427T>G (p.Phe1143Val) c.3109T>G (p.Phe1037Val) c.4018T>G (p.Phe1340Val) | |
| 13 | g.101081538A>G | CA388650148 | NALCN | c.3874T>C (p.Phe1292Leu) c.3595T>C (p.Phe1199Leu) c.3961T>C (p.Phe1321Leu) c.3787T>C (p.Phe1263Leu) c.3931T>C (p.Phe1311Leu) c.3844T>C (p.Phe1282Leu) c.3652T>C (p.Phe1218Leu) c.3427T>C (p.Phe1143Leu) c.3109T>C (p.Phe1037Leu) c.4018T>C (p.Phe1340Leu) | dbSNP |
| 13 | g.101081538A>T | CA388650149 | NALCN | c.3874T>A (p.Phe1292Ile) c.3595T>A (p.Phe1199Ile) c.3961T>A (p.Phe1321Ile) c.3787T>A (p.Phe1263Ile) c.3931T>A (p.Phe1311Ile) c.3844T>A (p.Phe1282Ile) c.3652T>A (p.Phe1218Ile) c.3427T>A (p.Phe1143Ile) c.3109T>A (p.Phe1037Ile) c.4018T>A (p.Phe1340Ile) | |
| 13 | g.101081539G>A | CA484551789 | NALCN | c.3873C>T (p.His1291=) c.3594C>T (p.His1198=) c.3960C>T (p.His1320=) c.3786C>T (p.His1262=) c.3930C>T (p.His1310=) c.3843C>T (p.His1281=) c.3651C>T (p.His1217=) c.3426C>T (p.His1142=) c.3108C>T (p.His1036=) c.4017C>T (p.His1339=) | |
| 13 | g.101081539G>C | CA388650151 | NALCN | c.3873C>G (p.His1291Gln) c.3594C>G (p.His1198Gln) c.3960C>G (p.His1320Gln) c.3786C>G (p.His1262Gln) c.3930C>G (p.His1310Gln) c.3843C>G (p.His1281Gln) c.3651C>G (p.His1217Gln) c.3426C>G (p.His1142Gln) c.3108C>G (p.His1036Gln) c.4017C>G (p.His1339Gln) | |
| 13 | g.101081539G= | CA2114388832 | NALCN | c.3873C= (p.His1291=) c.3594C= (p.His1198=) c.3960C= (p.His1320=) c.3786C= (p.His1262=) c.3930C= (p.His1310=) c.3843C= (p.His1281=) c.3651C= (p.His1217=) c.3426C= (p.His1142=) c.3108C= (p.His1036=) c.4017C= (p.His1339=) | |
| 13 | g.101081539G>T | CA388650153 | NALCN | c.3873C>A (p.His1291Gln) c.3594C>A (p.His1198Gln) c.3960C>A (p.His1320Gln) c.3786C>A (p.His1262Gln) c.3930C>A (p.His1310Gln) c.3843C>A (p.His1281Gln) c.3651C>A (p.His1217Gln) c.3426C>A (p.His1142Gln) c.3108C>A (p.His1036Gln) c.4017C>A (p.His1339Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101081540T>A | CA388650154 | NALCN | c.3872A>T (p.His1291Leu) c.3593A>T (p.His1198Leu) c.3959A>T (p.His1320Leu) c.3785A>T (p.His1262Leu) c.3929A>T (p.His1310Leu) c.3842A>T (p.His1281Leu) c.3650A>T (p.His1217Leu) c.3425A>T (p.His1142Leu) c.3107A>T (p.His1036Leu) c.4016A>T (p.His1339Leu) | |
| 13 | g.101081540T>C | CA388650155 | NALCN | c.3872A>G (p.His1291Arg) c.3593A>G (p.His1198Arg) c.3959A>G (p.His1320Arg) c.3785A>G (p.His1262Arg) c.3929A>G (p.His1310Arg) c.3842A>G (p.His1281Arg) c.3650A>G (p.His1217Arg) c.3425A>G (p.His1142Arg) c.3107A>G (p.His1036Arg) c.4016A>G (p.His1339Arg) | |
| 13 | g.101081540T>G | CA388650157 | NALCN | c.3872A>C (p.His1291Pro) c.3593A>C (p.His1198Pro) c.3959A>C (p.His1320Pro) c.3785A>C (p.His1262Pro) c.3929A>C (p.His1310Pro) c.3842A>C (p.His1281Pro) c.3650A>C (p.His1217Pro) c.3425A>C (p.His1142Pro) c.3107A>C (p.His1036Pro) c.4016A>C (p.His1339Pro) | |
| 13 | g.101081541G>A | CA388650159 | NALCN | c.3871C>T (p.His1291Tyr) c.3592C>T (p.His1198Tyr) c.3958C>T (p.His1320Tyr) c.3784C>T (p.His1262Tyr) c.3928C>T (p.His1310Tyr) c.3841C>T (p.His1281Tyr) c.3649C>T (p.His1217Tyr) c.3424C>T (p.His1142Tyr) c.3106C>T (p.His1036Tyr) c.4015C>T (p.His1339Tyr) | |
| 13 | g.101081541G>C | CA388650161 | NALCN | c.3871C>G (p.His1291Asp) c.3592C>G (p.His1198Asp) c.3958C>G (p.His1320Asp) c.3784C>G (p.His1262Asp) c.3928C>G (p.His1310Asp) c.3841C>G (p.His1281Asp) c.3649C>G (p.His1217Asp) c.3424C>G (p.His1142Asp) c.3106C>G (p.His1036Asp) c.4015C>G (p.His1339Asp) | |
| 13 | g.101081541G>T | CA388650162 | NALCN | c.3871C>A (p.His1291Asn) c.3592C>A (p.His1198Asn) c.3958C>A (p.His1320Asn) c.3784C>A (p.His1262Asn) c.3928C>A (p.His1310Asn) c.3841C>A (p.His1281Asn) c.3649C>A (p.His1217Asn) c.3424C>A (p.His1142Asn) c.3106C>A (p.His1036Asn) c.4015C>A (p.His1339Asn) | gnomAD v4 |
| 13 | g.101081542A>C | CA484551812 | NALCN | c.3870T>G (p.Leu1290=) c.3591T>G (p.Leu1197=) c.3957T>G (p.Leu1319=) c.3783T>G (p.Leu1261=) c.3927T>G (p.Leu1309=) c.3840T>G (p.Leu1280=) c.3648T>G (p.Leu1216=) c.3423T>G (p.Leu1141=) c.3105T>G (p.Leu1035=) c.4014T>G (p.Leu1338=) | |
| 13 | g.101081542A>G | CA484551814 | NALCN | c.3870T>C (p.Leu1290=) c.3591T>C (p.Leu1197=) c.3957T>C (p.Leu1319=) c.3783T>C (p.Leu1261=) c.3927T>C (p.Leu1309=) c.3840T>C (p.Leu1280=) c.3648T>C (p.Leu1216=) c.3423T>C (p.Leu1141=) c.3105T>C (p.Leu1035=) c.4014T>C (p.Leu1338=) | |
| 13 | g.101081542A>T | CA484551817 | NALCN | c.3870T>A (p.Leu1290=) c.3591T>A (p.Leu1197=) c.3957T>A (p.Leu1319=) c.3783T>A (p.Leu1261=) c.3927T>A (p.Leu1309=) c.3840T>A (p.Leu1280=) c.3648T>A (p.Leu1216=) c.3423T>A (p.Leu1141=) c.3105T>A (p.Leu1035=) c.4014T>A (p.Leu1338=) | |
| 13 | g.101081543A>C | CA388650167 | NALCN | c.3869T>G (p.Leu1290Arg) c.3590T>G (p.Leu1197Arg) c.3956T>G (p.Leu1319Arg) c.3782T>G (p.Leu1261Arg) c.3926T>G (p.Leu1309Arg) c.3839T>G (p.Leu1280Arg) c.3647T>G (p.Leu1216Arg) c.3422T>G (p.Leu1141Arg) c.3104T>G (p.Leu1035Arg) c.4013T>G (p.Leu1338Arg) | |
| 13 | g.101081543A>G | CA388650166 | NALCN | c.3869T>C (p.Leu1290Pro) c.3590T>C (p.Leu1197Pro) c.3956T>C (p.Leu1319Pro) c.3782T>C (p.Leu1261Pro) c.3926T>C (p.Leu1309Pro) c.3839T>C (p.Leu1280Pro) c.3647T>C (p.Leu1216Pro) c.3422T>C (p.Leu1141Pro) c.3104T>C (p.Leu1035Pro) c.4013T>C (p.Leu1338Pro) | |
| 13 | g.101081543A>T | CA388650164 | NALCN | c.3869T>A (p.Leu1290His) c.3590T>A (p.Leu1197His) c.3956T>A (p.Leu1319His) c.3782T>A (p.Leu1261His) c.3926T>A (p.Leu1309His) c.3839T>A (p.Leu1280His) c.3647T>A (p.Leu1216His) c.3422T>A (p.Leu1141His) c.3104T>A (p.Leu1035His) c.4013T>A (p.Leu1338His) | |
| 13 | g.101081544G>A | CA388650170 | NALCN | c.3868C>T (p.Leu1290Phe) c.3589C>T (p.Leu1197Phe) c.3955C>T (p.Leu1319Phe) c.3781C>T (p.Leu1261Phe) c.3925C>T (p.Leu1309Phe) c.3838C>T (p.Leu1280Phe) c.3646C>T (p.Leu1216Phe) c.3421C>T (p.Leu1141Phe) c.3103C>T (p.Leu1035Phe) c.4012C>T (p.Leu1338Phe) | |
| 13 | g.101081544G>C | CA388650169 | NALCN | c.3868C>G (p.Leu1290Val) c.3589C>G (p.Leu1197Val) c.3955C>G (p.Leu1319Val) c.3781C>G (p.Leu1261Val) c.3925C>G (p.Leu1309Val) c.3838C>G (p.Leu1280Val) c.3646C>G (p.Leu1216Val) c.3421C>G (p.Leu1141Val) c.3103C>G (p.Leu1035Val) c.4012C>G (p.Leu1338Val) | |
| 13 | g.101081544G>T | CA388650171 | NALCN | c.3868C>A (p.Leu1290Ile) c.3589C>A (p.Leu1197Ile) c.3955C>A (p.Leu1319Ile) c.3781C>A (p.Leu1261Ile) c.3925C>A (p.Leu1309Ile) c.3838C>A (p.Leu1280Ile) c.3646C>A (p.Leu1216Ile) c.3421C>A (p.Leu1141Ile) c.3103C>A (p.Leu1035Ile) c.4012C>A (p.Leu1338Ile) | |
| 13 | g.101081545C>A | CA484551831 | NALCN | c.3867G>T (p.Val1289=) c.3588G>T (p.Val1196=) c.3954G>T (p.Val1318=) c.3780G>T (p.Val1260=) c.3924G>T (p.Val1308=) c.3837G>T (p.Val1279=) c.3645G>T (p.Val1215=) c.3420G>T (p.Val1140=) c.3102G>T (p.Val1034=) c.4011G>T (p.Val1337=) | |
| 13 | g.101081545C>G | CA484551833 | NALCN | c.3867G>C (p.Val1289=) c.3588G>C (p.Val1196=) c.3954G>C (p.Val1318=) c.3780G>C (p.Val1260=) c.3924G>C (p.Val1308=) c.3837G>C (p.Val1279=) c.3645G>C (p.Val1215=) c.3420G>C (p.Val1140=) c.3102G>C (p.Val1034=) c.4011G>C (p.Val1337=) | |
| 13 | g.101081545C>T | CA484551836 | NALCN | c.3867G>A (p.Val1289=) c.3588G>A (p.Val1196=) c.3954G>A (p.Val1318=) c.3780G>A (p.Val1260=) c.3924G>A (p.Val1308=) c.3837G>A (p.Val1279=) c.3645G>A (p.Val1215=) c.3420G>A (p.Val1140=) c.3102G>A (p.Val1034=) c.4011G>A (p.Val1337=) | |
| 13 | g.101081546A= | CA2114388833 | NALCN | c.3866T= (p.Val1289=) c.3587T= (p.Val1196=) c.3953T= (p.Val1318=) c.3779T= (p.Val1260=) c.3923T= (p.Val1308=) c.3836T= (p.Val1279=) c.3644T= (p.Val1215=) c.3419T= (p.Val1140=) c.3101T= (p.Val1034=) c.4010T= (p.Val1337=) | |
| 13 | g.101081546A>C | CA388650173 | NALCN | c.3866T>G (p.Val1289Gly) c.3587T>G (p.Val1196Gly) c.3953T>G (p.Val1318Gly) c.3779T>G (p.Val1260Gly) c.3923T>G (p.Val1308Gly) c.3836T>G (p.Val1279Gly) c.3644T>G (p.Val1215Gly) c.3419T>G (p.Val1140Gly) c.3101T>G (p.Val1034Gly) c.4010T>G (p.Val1337Gly) | dbSNP |
| 13 | g.101081546A>G | CA388650176 | NALCN | c.3866T>C (p.Val1289Ala) c.3587T>C (p.Val1196Ala) c.3953T>C (p.Val1318Ala) c.3779T>C (p.Val1260Ala) c.3923T>C (p.Val1308Ala) c.3836T>C (p.Val1279Ala) c.3644T>C (p.Val1215Ala) c.3419T>C (p.Val1140Ala) c.3101T>C (p.Val1034Ala) c.4010T>C (p.Val1337Ala) | |
| 13 | g.101081546A>T | CA388650175 | NALCN | c.3866T>A (p.Val1289Glu) c.3587T>A (p.Val1196Glu) c.3953T>A (p.Val1318Glu) c.3779T>A (p.Val1260Glu) c.3923T>A (p.Val1308Glu) c.3836T>A (p.Val1279Glu) c.3644T>A (p.Val1215Glu) c.3419T>A (p.Val1140Glu) c.3101T>A (p.Val1034Glu) c.4010T>A (p.Val1337Glu) | |
| 13 | g.101081547C>A | CA388650178 | NALCN | c.3865G>T (p.Val1289Leu) c.3586G>T (p.Val1196Leu) c.3952G>T (p.Val1318Leu) c.3778G>T (p.Val1260Leu) c.3922G>T (p.Val1308Leu) c.3835G>T (p.Val1279Leu) c.3643G>T (p.Val1215Leu) c.3418G>T (p.Val1140Leu) c.3100G>T (p.Val1034Leu) c.4009G>T (p.Val1337Leu) | |
| 13 | g.101081547C= | CA2114388834 | NALCN | c.3865G= (p.Val1289=) c.3586G= (p.Val1196=) c.3952G= (p.Val1318=) c.3778G= (p.Val1260=) c.3922G= (p.Val1308=) c.3835G= (p.Val1279=) c.3643G= (p.Val1215=) c.3418G= (p.Val1140=) c.3100G= (p.Val1034=) c.4009G= (p.Val1337=) | |
| 13 | g.101081547C>G | CA388650180 | NALCN | c.3865G>C (p.Val1289Leu) c.3586G>C (p.Val1196Leu) c.3952G>C (p.Val1318Leu) c.3778G>C (p.Val1260Leu) c.3922G>C (p.Val1308Leu) c.3835G>C (p.Val1279Leu) c.3643G>C (p.Val1215Leu) c.3418G>C (p.Val1140Leu) c.3100G>C (p.Val1034Leu) c.4009G>C (p.Val1337Leu) | |
| 13 | g.101081547C>T | CA388650179 | NALCN | c.3865G>A (p.Val1289Met) c.3586G>A (p.Val1196Met) c.3952G>A (p.Val1318Met) c.3778G>A (p.Val1260Met) c.3922G>A (p.Val1308Met) c.3835G>A (p.Val1279Met) c.3643G>A (p.Val1215Met) c.3418G>A (p.Val1140Met) c.3100G>A (p.Val1034Met) c.4009G>A (p.Val1337Met) | dbSNP gnomAD v4 |
| 13 | g.101081548C>A | CA484551850 | NALCN | c.3864G>T (p.Val1288=) c.3585G>T (p.Val1195=) c.3951G>T (p.Val1317=) c.3777G>T (p.Val1259=) c.3921G>T (p.Val1307=) c.3834G>T (p.Val1278=) c.3642G>T (p.Val1214=) c.3417G>T (p.Val1139=) c.3099G>T (p.Val1033=) c.4008G>T (p.Val1336=) | |
| 13 | g.101081548C>G | CA484551855 | NALCN | c.3864G>C (p.Val1288=) c.3585G>C (p.Val1195=) c.3951G>C (p.Val1317=) c.3777G>C (p.Val1259=) c.3921G>C (p.Val1307=) c.3834G>C (p.Val1278=) c.3642G>C (p.Val1214=) c.3417G>C (p.Val1139=) c.3099G>C (p.Val1033=) c.4008G>C (p.Val1336=) | |
| 13 | g.101081548C>T | CA484551861 | NALCN | c.3864G>A (p.Val1288=) c.3585G>A (p.Val1195=) c.3951G>A (p.Val1317=) c.3777G>A (p.Val1259=) c.3921G>A (p.Val1307=) c.3834G>A (p.Val1278=) c.3642G>A (p.Val1214=) c.3417G>A (p.Val1139=) c.3099G>A (p.Val1033=) c.4008G>A (p.Val1336=) | |
| 13 | g.101081549A>C | CA388650183 | NALCN | c.3863T>G (p.Val1288Gly) c.3584T>G (p.Val1195Gly) c.3950T>G (p.Val1317Gly) c.3776T>G (p.Val1259Gly) c.3920T>G (p.Val1307Gly) c.3833T>G (p.Val1278Gly) c.3641T>G (p.Val1214Gly) c.3416T>G (p.Val1139Gly) c.3098T>G (p.Val1033Gly) c.4007T>G (p.Val1336Gly) | |
| 13 | g.101081549A>G | CA388650184 | NALCN | c.3863T>C (p.Val1288Ala) c.3584T>C (p.Val1195Ala) c.3950T>C (p.Val1317Ala) c.3776T>C (p.Val1259Ala) c.3920T>C (p.Val1307Ala) c.3833T>C (p.Val1278Ala) c.3641T>C (p.Val1214Ala) c.3416T>C (p.Val1139Ala) c.3098T>C (p.Val1033Ala) c.4007T>C (p.Val1336Ala) | |
| 13 | g.101081549A>T | CA388650186 | NALCN | c.3863T>A (p.Val1288Glu) c.3584T>A (p.Val1195Glu) c.3950T>A (p.Val1317Glu) c.3776T>A (p.Val1259Glu) c.3920T>A (p.Val1307Glu) c.3833T>A (p.Val1278Glu) c.3641T>A (p.Val1214Glu) c.3416T>A (p.Val1139Glu) c.3098T>A (p.Val1033Glu) c.4007T>A (p.Val1336Glu) | |
| 13 | g.101081550C>A | CA388650187 | NALCN | c.3862G>T (p.Val1288Leu) c.3583G>T (p.Val1195Leu) c.3949G>T (p.Val1317Leu) c.3775G>T (p.Val1259Leu) c.3919G>T (p.Val1307Leu) c.3832G>T (p.Val1278Leu) c.3640G>T (p.Val1214Leu) c.3415G>T (p.Val1139Leu) c.3097G>T (p.Val1033Leu) c.4006G>T (p.Val1336Leu) | |
| 13 | g.101081550C= | CA2114388835 | NALCN | c.3862G= (p.Val1288=) c.3583G= (p.Val1195=) c.3949G= (p.Val1317=) c.3775G= (p.Val1259=) c.3919G= (p.Val1307=) c.3832G= (p.Val1278=) c.3640G= (p.Val1214=) c.3415G= (p.Val1139=) c.3097G= (p.Val1033=) c.4006G= (p.Val1336=) | |
| 13 | g.101081550C>G | CA388650188 | NALCN | c.3862G>C (p.Val1288Leu) c.3583G>C (p.Val1195Leu) c.3949G>C (p.Val1317Leu) c.3775G>C (p.Val1259Leu) c.3919G>C (p.Val1307Leu) c.3832G>C (p.Val1278Leu) c.3640G>C (p.Val1214Leu) c.3415G>C (p.Val1139Leu) c.3097G>C (p.Val1033Leu) c.4006G>C (p.Val1336Leu) | |
| 13 | g.101081550C>T | CA7035275 | NALCN | c.3862G>A (p.Val1288Met) c.3583G>A (p.Val1195Met) c.3949G>A (p.Val1317Met) c.3775G>A (p.Val1259Met) c.3919G>A (p.Val1307Met) c.3832G>A (p.Val1278Met) c.3640G>A (p.Val1214Met) c.3415G>A (p.Val1139Met) c.3097G>A (p.Val1033Met) c.4006G>A (p.Val1336Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101081551C>A | CA388650193 | NALCN | c.3861G>T (p.Trp1287Cys) c.3582G>T (p.Trp1194Cys) c.3948G>T (p.Trp1316Cys) c.3774G>T (p.Trp1258Cys) c.3918G>T (p.Trp1306Cys) c.3831G>T (p.Trp1277Cys) c.3639G>T (p.Trp1213Cys) c.3414G>T (p.Trp1138Cys) c.3096G>T (p.Trp1032Cys) c.4005G>T (p.Trp1335Cys) | gnomAD v4 |
| 13 | g.101081551C>G | CA388650192 | NALCN | c.3861G>C (p.Trp1287Cys) c.3582G>C (p.Trp1194Cys) c.3948G>C (p.Trp1316Cys) c.3774G>C (p.Trp1258Cys) c.3918G>C (p.Trp1306Cys) c.3831G>C (p.Trp1277Cys) c.3639G>C (p.Trp1213Cys) c.3414G>C (p.Trp1138Cys) c.3096G>C (p.Trp1032Cys) c.4005G>C (p.Trp1335Cys) | |
| 13 | g.101081551C>T | CA388650190 | NALCN | c.3861G>A (p.Trp1287Ter) c.3582G>A (p.Trp1194Ter) c.3948G>A (p.Trp1316Ter) c.3774G>A (p.Trp1258Ter) c.3918G>A (p.Trp1306Ter) c.3831G>A (p.Trp1277Ter) c.3639G>A (p.Trp1213Ter) c.3414G>A (p.Trp1138Ter) c.3096G>A (p.Trp1032Ter) c.4005G>A (p.Trp1335Ter) | |
| 13 | g.101081552C>A | CA145297 | NALCN | c.3860G>T (p.Trp1287Leu) c.3581G>T (p.Trp1194Leu) c.3947G>T (p.Trp1316Leu) c.3773G>T (p.Trp1258Leu) c.3917G>T (p.Trp1306Leu) c.3830G>T (p.Trp1277Leu) c.3638G>T (p.Trp1213Leu) c.3413G>T (p.Trp1138Leu) c.3095G>T (p.Trp1032Leu) c.4004G>T (p.Trp1335Leu) | ClinVar dbSNP |
| 13 | g.101081552C= | CA2114388836 | NALCN | c.3860G= (p.Trp1287=) c.3581G= (p.Trp1194=) c.3947G= (p.Trp1316=) c.3773G= (p.Trp1258=) c.3917G= (p.Trp1306=) c.3830G= (p.Trp1277=) c.3638G= (p.Trp1213=) c.3413G= (p.Trp1138=) c.3095G= (p.Trp1032=) c.4004G= (p.Trp1335=) | |
| 13 | g.101081552C>G | CA388650195 | NALCN | c.3860G>C (p.Trp1287Ser) c.3581G>C (p.Trp1194Ser) c.3947G>C (p.Trp1316Ser) c.3773G>C (p.Trp1258Ser) c.3917G>C (p.Trp1306Ser) c.3830G>C (p.Trp1277Ser) c.3638G>C (p.Trp1213Ser) c.3413G>C (p.Trp1138Ser) c.3095G>C (p.Trp1032Ser) c.4004G>C (p.Trp1335Ser) | |
| 13 | g.101081552C>T | CA388650197 | NALCN | c.3860G>A (p.Trp1287Ter) c.3581G>A (p.Trp1194Ter) c.3947G>A (p.Trp1316Ter) c.3773G>A (p.Trp1258Ter) c.3917G>A (p.Trp1306Ter) c.3830G>A (p.Trp1277Ter) c.3638G>A (p.Trp1213Ter) c.3413G>A (p.Trp1138Ter) c.3095G>A (p.Trp1032Ter) c.4004G>A (p.Trp1335Ter) | gnomAD v4 |
| 13 | g.101081553A>C | CA388650199 | NALCN | c.3859T>G (p.Trp1287Gly) c.3580T>G (p.Trp1194Gly) c.3946T>G (p.Trp1316Gly) c.3772T>G (p.Trp1258Gly) c.3916T>G (p.Trp1306Gly) c.3829T>G (p.Trp1277Gly) c.3637T>G (p.Trp1213Gly) c.3412T>G (p.Trp1138Gly) c.3094T>G (p.Trp1032Gly) c.4003T>G (p.Trp1335Gly) | |
| 13 | g.101081553A>G | CA388650200 | NALCN | c.3859T>C (p.Trp1287Arg) c.3580T>C (p.Trp1194Arg) c.3946T>C (p.Trp1316Arg) c.3772T>C (p.Trp1258Arg) c.3916T>C (p.Trp1306Arg) c.3829T>C (p.Trp1277Arg) c.3637T>C (p.Trp1213Arg) c.3412T>C (p.Trp1138Arg) c.3094T>C (p.Trp1032Arg) c.4003T>C (p.Trp1335Arg) | |
| 13 | g.101081553A>T | CA388650202 | NALCN | c.3859T>A (p.Trp1287Arg) c.3580T>A (p.Trp1194Arg) c.3946T>A (p.Trp1316Arg) c.3772T>A (p.Trp1258Arg) c.3916T>A (p.Trp1306Arg) c.3829T>A (p.Trp1277Arg) c.3637T>A (p.Trp1213Arg) c.3412T>A (p.Trp1138Arg) c.3094T>A (p.Trp1032Arg) c.4003T>A (p.Trp1335Arg) | |
| 13 | g.101081554T>A | CA484551894 | NALCN | c.3858A>T (p.Val1286=) c.3579A>T (p.Val1193=) c.3945A>T (p.Val1315=) c.3771A>T (p.Val1257=) c.3915A>T (p.Val1305=) c.3828A>T (p.Val1276=) c.3636A>T (p.Val1212=) c.3411A>T (p.Val1137=) c.3093A>T (p.Val1031=) c.4002A>T (p.Val1334=) | gnomAD v4 |
| 13 | g.101081554T>C | CA484551896 | NALCN | c.3858A>G (p.Val1286=) c.3579A>G (p.Val1193=) c.3945A>G (p.Val1315=) c.3771A>G (p.Val1257=) c.3915A>G (p.Val1305=) c.3828A>G (p.Val1276=) c.3636A>G (p.Val1212=) c.3411A>G (p.Val1137=) c.3093A>G (p.Val1031=) c.4002A>G (p.Val1334=) | dbSNP gnomAD v4 |
| 13 | g.101081554T>G | CA484551899 | NALCN | c.3858A>C (p.Val1286=) c.3579A>C (p.Val1193=) c.3945A>C (p.Val1315=) c.3771A>C (p.Val1257=) c.3915A>C (p.Val1305=) c.3828A>C (p.Val1276=) c.3636A>C (p.Val1212=) c.3411A>C (p.Val1137=) c.3093A>C (p.Val1031=) c.4002A>C (p.Val1334=) | |
| 13 | g.101081554T= | CA2114388837 | NALCN | c.3858A= (p.Val1286=) c.3579A= (p.Val1193=) c.3945A= (p.Val1315=) c.3771A= (p.Val1257=) c.3915A= (p.Val1305=) c.3828A= (p.Val1276=) c.3636A= (p.Val1212=) c.3411A= (p.Val1137=) c.3093A= (p.Val1031=) c.4002A= (p.Val1334=) | |
| 13 | g.101081555A= | CA2114388838 | NALCN | c.3857T= (p.Val1286=) c.3578T= (p.Val1193=) c.3944T= (p.Val1315=) c.3770T= (p.Val1257=) c.3914T= (p.Val1305=) c.3827T= (p.Val1276=) c.3635T= (p.Val1212=) c.3410T= (p.Val1137=) c.3092T= (p.Val1031=) c.4001T= (p.Val1334=) | |
| 13 | g.101081555A>C | CA388650203 | NALCN | c.3857T>G (p.Val1286Gly) c.3578T>G (p.Val1193Gly) c.3944T>G (p.Val1315Gly) c.3770T>G (p.Val1257Gly) c.3914T>G (p.Val1305Gly) c.3827T>G (p.Val1276Gly) c.3635T>G (p.Val1212Gly) c.3410T>G (p.Val1137Gly) c.3092T>G (p.Val1031Gly) c.4001T>G (p.Val1334Gly) | |
| 13 | g.101081555A>G | CA255407075 | NALCN | c.3857T>C (p.Val1286Ala) c.3578T>C (p.Val1193Ala) c.3944T>C (p.Val1315Ala) c.3770T>C (p.Val1257Ala) c.3914T>C (p.Val1305Ala) c.3827T>C (p.Val1276Ala) c.3635T>C (p.Val1212Ala) c.3410T>C (p.Val1137Ala) c.3092T>C (p.Val1031Ala) c.4001T>C (p.Val1334Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101081555A>T | CA388650205 | NALCN | c.3857T>A (p.Val1286Glu) c.3578T>A (p.Val1193Glu) c.3944T>A (p.Val1315Glu) c.3770T>A (p.Val1257Glu) c.3914T>A (p.Val1305Glu) c.3827T>A (p.Val1276Glu) c.3635T>A (p.Val1212Glu) c.3410T>A (p.Val1137Glu) c.3092T>A (p.Val1031Glu) c.4001T>A (p.Val1334Glu) | |
| 13 | g.101081556C>A | CA388650208 | NALCN | c.3856G>T (p.Val1286Leu) c.3577G>T (p.Val1193Leu) c.3943G>T (p.Val1315Leu) c.3769G>T (p.Val1257Leu) c.3913G>T (p.Val1305Leu) c.3826G>T (p.Val1276Leu) c.3634G>T (p.Val1212Leu) c.3409G>T (p.Val1137Leu) c.3091G>T (p.Val1031Leu) c.4000G>T (p.Val1334Leu) | |
| 13 | g.101081556C= | CA2114388839 | NALCN | c.3856G= (p.Val1286=) c.3577G= (p.Val1193=) c.3943G= (p.Val1315=) c.3769G= (p.Val1257=) c.3913G= (p.Val1305=) c.3826G= (p.Val1276=) c.3634G= (p.Val1212=) c.3409G= (p.Val1137=) c.3091G= (p.Val1031=) c.4000G= (p.Val1334=) | |
| 13 | g.101081556C>G | CA388650209 | NALCN | c.3856G>C (p.Val1286Leu) c.3577G>C (p.Val1193Leu) c.3943G>C (p.Val1315Leu) c.3769G>C (p.Val1257Leu) c.3913G>C (p.Val1305Leu) c.3826G>C (p.Val1276Leu) c.3634G>C (p.Val1212Leu) c.3409G>C (p.Val1137Leu) c.3091G>C (p.Val1031Leu) c.4000G>C (p.Val1334Leu) | dbSNP |
| 13 | g.101081556C>T | CA388650211 | NALCN | c.3856G>A (p.Val1286Ile) c.3577G>A (p.Val1193Ile) c.3943G>A (p.Val1315Ile) c.3769G>A (p.Val1257Ile) c.3913G>A (p.Val1305Ile) c.3826G>A (p.Val1276Ile) c.3634G>A (p.Val1212Ile) c.3409G>A (p.Val1137Ile) c.3091G>A (p.Val1031Ile) c.4000G>A (p.Val1334Ile) | |
| 13 | g.101081557A= | CA2114388840 | NALCN | c.3855T= (p.Val1285=) c.3576T= (p.Val1192=) c.3942T= (p.Val1314=) c.3768T= (p.Val1256=) c.3912T= (p.Val1304=) c.3825T= (p.Val1275=) c.3633T= (p.Val1211=) c.3408T= (p.Val1136=) c.3090T= (p.Val1030=) c.3999T= (p.Val1333=) | |
| 13 | g.101081557A>C | CA7035276 | NALCN | c.3855T>G (p.Val1285=) c.3576T>G (p.Val1192=) c.3942T>G (p.Val1314=) c.3768T>G (p.Val1256=) c.3912T>G (p.Val1304=) c.3825T>G (p.Val1275=) c.3633T>G (p.Val1211=) c.3408T>G (p.Val1136=) c.3090T>G (p.Val1030=) c.3999T>G (p.Val1333=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101081557A>G | CA484551915 | NALCN | c.3855T>C (p.Val1285=) c.3576T>C (p.Val1192=) c.3942T>C (p.Val1314=) c.3768T>C (p.Val1256=) c.3912T>C (p.Val1304=) c.3825T>C (p.Val1275=) c.3633T>C (p.Val1211=) c.3408T>C (p.Val1136=) c.3090T>C (p.Val1030=) c.3999T>C (p.Val1333=) | |
| 13 | g.101081557A>T | CA484551919 | NALCN | c.3855T>A (p.Val1285=) c.3576T>A (p.Val1192=) c.3942T>A (p.Val1314=) c.3768T>A (p.Val1256=) c.3912T>A (p.Val1304=) c.3825T>A (p.Val1275=) c.3633T>A (p.Val1211=) c.3408T>A (p.Val1136=) c.3090T>A (p.Val1030=) c.3999T>A (p.Val1333=) | |
| 13 | g.101081558A>C | CA388650214 | NALCN | c.3854T>G (p.Val1285Gly) c.3575T>G (p.Val1192Gly) c.3941T>G (p.Val1314Gly) c.3767T>G (p.Val1256Gly) c.3911T>G (p.Val1304Gly) c.3824T>G (p.Val1275Gly) c.3632T>G (p.Val1211Gly) c.3407T>G (p.Val1136Gly) c.3089T>G (p.Val1030Gly) c.3998T>G (p.Val1333Gly) | |
| 13 | g.101081558A>G | CA388650215 | NALCN | c.3854T>C (p.Val1285Ala) c.3575T>C (p.Val1192Ala) c.3941T>C (p.Val1314Ala) c.3767T>C (p.Val1256Ala) c.3911T>C (p.Val1304Ala) c.3824T>C (p.Val1275Ala) c.3632T>C (p.Val1211Ala) c.3407T>C (p.Val1136Ala) c.3089T>C (p.Val1030Ala) c.3998T>C (p.Val1333Ala) | |
| 13 | g.101081558A>T | CA388650216 | NALCN | c.3854T>A (p.Val1285Asp) c.3575T>A (p.Val1192Asp) c.3941T>A (p.Val1314Asp) c.3767T>A (p.Val1256Asp) c.3911T>A (p.Val1304Asp) c.3824T>A (p.Val1275Asp) c.3632T>A (p.Val1211Asp) c.3407T>A (p.Val1136Asp) c.3089T>A (p.Val1030Asp) c.3998T>A (p.Val1333Asp) | |
| 13 | g.101081559C>A | CA388650217 | NALCN | c.3853G>T (p.Val1285Phe) c.3574G>T (p.Val1192Phe) c.3940G>T (p.Val1314Phe) c.3766G>T (p.Val1256Phe) c.3910G>T (p.Val1304Phe) c.3823G>T (p.Val1275Phe) c.3631G>T (p.Val1211Phe) c.3406G>T (p.Val1136Phe) c.3088G>T (p.Val1030Phe) c.3997G>T (p.Val1333Phe) | |
| 13 | g.101081559C= | CA2114388841 | NALCN | c.3853G= (p.Val1285=) c.3574G= (p.Val1192=) c.3940G= (p.Val1314=) c.3766G= (p.Val1256=) c.3910G= (p.Val1304=) c.3823G= (p.Val1275=) c.3631G= (p.Val1211=) c.3406G= (p.Val1136=) c.3088G= (p.Val1030=) c.3997G= (p.Val1333=) | |
| 13 | g.101081559C>G | CA388650218 | NALCN | c.3853G>C (p.Val1285Leu) c.3574G>C (p.Val1192Leu) c.3940G>C (p.Val1314Leu) c.3766G>C (p.Val1256Leu) c.3910G>C (p.Val1304Leu) c.3823G>C (p.Val1275Leu) c.3631G>C (p.Val1211Leu) c.3406G>C (p.Val1136Leu) c.3088G>C (p.Val1030Leu) c.3997G>C (p.Val1333Leu) | |
| 13 | g.101081559C>T | CA7035277 | NALCN | c.3853G>A (p.Val1285Ile) c.3574G>A (p.Val1192Ile) c.3940G>A (p.Val1314Ile) c.3766G>A (p.Val1256Ile) c.3910G>A (p.Val1304Ile) c.3823G>A (p.Val1275Ile) c.3631G>A (p.Val1211Ile) c.3406G>A (p.Val1136Ile) c.3088G>A (p.Val1030Ile) c.3997G>A (p.Val1333Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.101081560G>A | CA7035279 | NALCN | c.3852C>T (p.Gly1284=) c.3573C>T (p.Gly1191=) c.3939C>T (p.Gly1313=) c.3765C>T (p.Gly1255=) c.3909C>T (p.Gly1303=) c.3822C>T (p.Gly1274=) c.3630C>T (p.Gly1210=) c.3405C>T (p.Gly1135=) c.3087C>T (p.Gly1029=) c.3996C>T (p.Gly1332=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.101081560G>C | CA484551935 | NALCN | c.3852C>G (p.Gly1284=) c.3573C>G (p.Gly1191=) c.3939C>G (p.Gly1313=) c.3765C>G (p.Gly1255=) c.3909C>G (p.Gly1303=) c.3822C>G (p.Gly1274=) c.3630C>G (p.Gly1210=) c.3405C>G (p.Gly1135=) c.3087C>G (p.Gly1029=) c.3996C>G (p.Gly1332=) | gnomAD v4 |
| 13 | g.101081560G= | CA2114388842 | NALCN | c.3852C= (p.Gly1284=) c.3573C= (p.Gly1191=) c.3939C= (p.Gly1313=) c.3765C= (p.Gly1255=) c.3909C= (p.Gly1303=) c.3822C= (p.Gly1274=) c.3630C= (p.Gly1210=) c.3405C= (p.Gly1135=) c.3087C= (p.Gly1029=) c.3996C= (p.Gly1332=) | |
| 13 | g.101081560G>T | CA7035278 | NALCN | c.3852C>A (p.Gly1284=) c.3573C>A (p.Gly1191=) c.3939C>A (p.Gly1313=) c.3765C>A (p.Gly1255=) c.3909C>A (p.Gly1303=) c.3822C>A (p.Gly1274=) c.3630C>A (p.Gly1210=) c.3405C>A (p.Gly1135=) c.3087C>A (p.Gly1029=) c.3996C>A (p.Gly1332=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101081561C>A | CA388650223 | NALCN | c.3851G>T (p.Gly1284Val) c.3572G>T (p.Gly1191Val) c.3938G>T (p.Gly1313Val) c.3764G>T (p.Gly1255Val) c.3908G>T (p.Gly1303Val) c.3821G>T (p.Gly1274Val) c.3629G>T (p.Gly1210Val) c.3404G>T (p.Gly1135Val) c.3086G>T (p.Gly1029Val) c.3995G>T (p.Gly1332Val) | |
| 13 | g.101081561C>G | CA388650226 | NALCN | c.3851G>C (p.Gly1284Ala) c.3572G>C (p.Gly1191Ala) c.3938G>C (p.Gly1313Ala) c.3764G>C (p.Gly1255Ala) c.3908G>C (p.Gly1303Ala) c.3821G>C (p.Gly1274Ala) c.3629G>C (p.Gly1210Ala) c.3404G>C (p.Gly1135Ala) c.3086G>C (p.Gly1029Ala) c.3995G>C (p.Gly1332Ala) | |
| 13 | g.101081561C>T | CA388650224 | NALCN | c.3851G>A (p.Gly1284Asp) c.3572G>A (p.Gly1191Asp) c.3938G>A (p.Gly1313Asp) c.3764G>A (p.Gly1255Asp) c.3908G>A (p.Gly1303Asp) c.3821G>A (p.Gly1274Asp) c.3629G>A (p.Gly1210Asp) c.3404G>A (p.Gly1135Asp) c.3086G>A (p.Gly1029Asp) c.3995G>A (p.Gly1332Asp) | |
| 13 | g.101081562C>A | CA388650229 | NALCN | c.3850G>T (p.Gly1284Cys) c.3571G>T (p.Gly1191Cys) c.3937G>T (p.Gly1313Cys) c.3763G>T (p.Gly1255Cys) c.3907G>T (p.Gly1303Cys) c.3820G>T (p.Gly1274Cys) c.3628G>T (p.Gly1210Cys) c.3403G>T (p.Gly1135Cys) c.3085G>T (p.Gly1029Cys) c.3994G>T (p.Gly1332Cys) | |
| 13 | g.101081562C>G | CA388650230 | NALCN | c.3850G>C (p.Gly1284Arg) c.3571G>C (p.Gly1191Arg) c.3937G>C (p.Gly1313Arg) c.3763G>C (p.Gly1255Arg) c.3907G>C (p.Gly1303Arg) c.3820G>C (p.Gly1274Arg) c.3628G>C (p.Gly1210Arg) c.3403G>C (p.Gly1135Arg) c.3085G>C (p.Gly1029Arg) c.3994G>C (p.Gly1332Arg) | |
| 13 | g.101081562C>T | CA388650231 | NALCN | c.3850G>A (p.Gly1284Ser) c.3571G>A (p.Gly1191Ser) c.3937G>A (p.Gly1313Ser) c.3763G>A (p.Gly1255Ser) c.3907G>A (p.Gly1303Ser) c.3820G>A (p.Gly1274Ser) c.3628G>A (p.Gly1210Ser) c.3403G>A (p.Gly1135Ser) c.3085G>A (p.Gly1029Ser) c.3994G>A (p.Gly1332Ser) | |
| 13 | g.101081563A= | CA2114388843 | NALCN | c.3849T= (p.Leu1283=) c.3570T= (p.Leu1190=) c.3936T= (p.Leu1312=) c.3762T= (p.Leu1254=) c.3906T= (p.Leu1302=) c.3819T= (p.Leu1273=) c.3627T= (p.Leu1209=) c.3402T= (p.Leu1134=) c.3084T= (p.Leu1028=) c.3993T= (p.Leu1331=) | |
| 13 | g.101081563A>C | CA7035280 | NALCN | c.3849T>G (p.Leu1283=) c.3570T>G (p.Leu1190=) c.3936T>G (p.Leu1312=) c.3762T>G (p.Leu1254=) c.3906T>G (p.Leu1302=) c.3819T>G (p.Leu1273=) c.3627T>G (p.Leu1209=) c.3402T>G (p.Leu1134=) c.3084T>G (p.Leu1028=) c.3993T>G (p.Leu1331=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101081563A>G | CA484551953 | NALCN | c.3849T>C (p.Leu1283=) c.3570T>C (p.Leu1190=) c.3936T>C (p.Leu1312=) c.3762T>C (p.Leu1254=) c.3906T>C (p.Leu1302=) c.3819T>C (p.Leu1273=) c.3627T>C (p.Leu1209=) c.3402T>C (p.Leu1134=) c.3084T>C (p.Leu1028=) c.3993T>C (p.Leu1331=) | |
| 13 | g.101081563A>T | CA484551956 | NALCN | c.3849T>A (p.Leu1283=) c.3570T>A (p.Leu1190=) c.3936T>A (p.Leu1312=) c.3762T>A (p.Leu1254=) c.3906T>A (p.Leu1302=) c.3819T>A (p.Leu1273=) c.3627T>A (p.Leu1209=) c.3402T>A (p.Leu1134=) c.3084T>A (p.Leu1028=) c.3993T>A (p.Leu1331=) | |
| 13 | g.101081564A>C | CA388650234 | NALCN | c.3848T>G (p.Leu1283Arg) c.3569T>G (p.Leu1190Arg) c.3935T>G (p.Leu1312Arg) c.3761T>G (p.Leu1254Arg) c.3905T>G (p.Leu1302Arg) c.3818T>G (p.Leu1273Arg) c.3626T>G (p.Leu1209Arg) c.3401T>G (p.Leu1134Arg) c.3083T>G (p.Leu1028Arg) c.3992T>G (p.Leu1331Arg) | |
| 13 | g.101081564A>G | CA388650236 | NALCN | c.3848T>C (p.Leu1283Pro) c.3569T>C (p.Leu1190Pro) c.3935T>C (p.Leu1312Pro) c.3761T>C (p.Leu1254Pro) c.3905T>C (p.Leu1302Pro) c.3818T>C (p.Leu1273Pro) c.3626T>C (p.Leu1209Pro) c.3401T>C (p.Leu1134Pro) c.3083T>C (p.Leu1028Pro) c.3992T>C (p.Leu1331Pro) | |
| 13 | g.101081564A>T | CA388650238 | NALCN | c.3848T>A (p.Leu1283His) c.3569T>A (p.Leu1190His) c.3935T>A (p.Leu1312His) c.3761T>A (p.Leu1254His) c.3905T>A (p.Leu1302His) c.3818T>A (p.Leu1273His) c.3626T>A (p.Leu1209His) c.3401T>A (p.Leu1134His) c.3083T>A (p.Leu1028His) c.3992T>A (p.Leu1331His) | |
| 13 | g.101081565G>A | CA388650240 | NALCN | c.3847C>T (p.Leu1283Phe) c.3568C>T (p.Leu1190Phe) c.3934C>T (p.Leu1312Phe) c.3760C>T (p.Leu1254Phe) c.3904C>T (p.Leu1302Phe) c.3817C>T (p.Leu1273Phe) c.3625C>T (p.Leu1209Phe) c.3400C>T (p.Leu1134Phe) c.3082C>T (p.Leu1028Phe) c.3991C>T (p.Leu1331Phe) | gnomAD v4 |
| 13 | g.101081565G>C | CA388650243 | NALCN | c.3847C>G (p.Leu1283Val) c.3568C>G (p.Leu1190Val) c.3934C>G (p.Leu1312Val) c.3760C>G (p.Leu1254Val) c.3904C>G (p.Leu1302Val) c.3817C>G (p.Leu1273Val) c.3625C>G (p.Leu1209Val) c.3400C>G (p.Leu1134Val) c.3082C>G (p.Leu1028Val) c.3991C>G (p.Leu1331Val) | |
| 13 | g.101081565G>T | CA388650242 | NALCN | c.3847C>A (p.Leu1283Ile) c.3568C>A (p.Leu1190Ile) c.3934C>A (p.Leu1312Ile) c.3760C>A (p.Leu1254Ile) c.3904C>A (p.Leu1302Ile) c.3817C>A (p.Leu1273Ile) c.3625C>A (p.Leu1209Ile) c.3400C>A (p.Leu1134Ile) c.3082C>A (p.Leu1028Ile) c.3991C>A (p.Leu1331Ile) | |
| 13 | g.101081566C>A | CA484551972 | NALCN | c.3846G>T (p.Ser1282=) c.3567G>T (p.Ser1189=) c.3933G>T (p.Ser1311=) c.3759G>T (p.Ser1253=) c.3903G>T (p.Ser1301=) c.3816G>T (p.Ser1272=) c.3624G>T (p.Ser1208=) c.3399G>T (p.Ser1133=) c.3081G>T (p.Ser1027=) c.3990G>T (p.Ser1330=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.101081566C= | CA2114388844 | NALCN | c.3846G= (p.Ser1282=) c.3567G= (p.Ser1189=) c.3933G= (p.Ser1311=) c.3759G= (p.Ser1253=) c.3903G= (p.Ser1301=) c.3816G= (p.Ser1272=) c.3624G= (p.Ser1208=) c.3399G= (p.Ser1133=) c.3081G= (p.Ser1027=) c.3990G= (p.Ser1330=) | |
| 13 | g.101081566C>G | CA484551976 | NALCN | c.3846G>C (p.Ser1282=) c.3567G>C (p.Ser1189=) c.3933G>C (p.Ser1311=) c.3759G>C (p.Ser1253=) c.3903G>C (p.Ser1301=) c.3816G>C (p.Ser1272=) c.3624G>C (p.Ser1208=) c.3399G>C (p.Ser1133=) c.3081G>C (p.Ser1027=) c.3990G>C (p.Ser1330=) | |
| 13 | g.101081566C>T | CA7035281 | NALCN | c.3846G>A (p.Ser1282=) c.3567G>A (p.Ser1189=) c.3933G>A (p.Ser1311=) c.3759G>A (p.Ser1253=) c.3903G>A (p.Ser1301=) c.3816G>A (p.Ser1272=) c.3624G>A (p.Ser1208=) c.3399G>A (p.Ser1133=) c.3081G>A (p.Ser1027=) c.3990G>A (p.Ser1330=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.101081567G>A | CA7035282 | NALCN | c.3845C>T (p.Ser1282Leu) c.3566C>T (p.Ser1189Leu) c.3932C>T (p.Ser1311Leu) c.3758C>T (p.Ser1253Leu) c.3902C>T (p.Ser1301Leu) c.3815C>T (p.Ser1272Leu) c.3623C>T (p.Ser1208Leu) c.3398C>T (p.Ser1133Leu) c.3080C>T (p.Ser1027Leu) c.3989C>T (p.Ser1330Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101081567G>C | CA388650246 | NALCN | c.3845C>G (p.Ser1282Trp) c.3566C>G (p.Ser1189Trp) c.3932C>G (p.Ser1311Trp) c.3758C>G (p.Ser1253Trp) c.3902C>G (p.Ser1301Trp) c.3815C>G (p.Ser1272Trp) c.3623C>G (p.Ser1208Trp) c.3398C>G (p.Ser1133Trp) c.3080C>G (p.Ser1027Trp) c.3989C>G (p.Ser1330Trp) | |
| 13 | g.101081567G= | CA2114388845 | NALCN | c.3845C= (p.Ser1282=) c.3566C= (p.Ser1189=) c.3932C= (p.Ser1311=) c.3758C= (p.Ser1253=) c.3902C= (p.Ser1301=) c.3815C= (p.Ser1272=) c.3623C= (p.Ser1208=) c.3398C= (p.Ser1133=) c.3080C= (p.Ser1027=) c.3989C= (p.Ser1330=) | |
| 13 | g.101081567G>T | CA388650248 | NALCN | c.3845C>A (p.Ser1282Ter) c.3566C>A (p.Ser1189Ter) c.3932C>A (p.Ser1311Ter) c.3758C>A (p.Ser1253Ter) c.3902C>A (p.Ser1301Ter) c.3815C>A (p.Ser1272Ter) c.3623C>A (p.Ser1208Ter) c.3398C>A (p.Ser1133Ter) c.3080C>A (p.Ser1027Ter) c.3989C>A (p.Ser1330Ter) | dbSNP gnomAD v2 |
| 13 | g.101081568A>C | CA388650250 | NALCN | c.3844T>G (p.Ser1282Ala) c.3565T>G (p.Ser1189Ala) c.3931T>G (p.Ser1311Ala) c.3757T>G (p.Ser1253Ala) c.3901T>G (p.Ser1301Ala) c.3814T>G (p.Ser1272Ala) c.3622T>G (p.Ser1208Ala) c.3397T>G (p.Ser1133Ala) c.3079T>G (p.Ser1027Ala) c.3988T>G (p.Ser1330Ala) | |
| 13 | g.101081568A>G | CA388650252 | NALCN | c.3844T>C (p.Ser1282Pro) c.3565T>C (p.Ser1189Pro) c.3931T>C (p.Ser1311Pro) c.3757T>C (p.Ser1253Pro) c.3901T>C (p.Ser1301Pro) c.3814T>C (p.Ser1272Pro) c.3622T>C (p.Ser1208Pro) c.3397T>C (p.Ser1133Pro) c.3079T>C (p.Ser1027Pro) c.3988T>C (p.Ser1330Pro) | |
| 13 | g.101081568A>T | CA388650251 | NALCN | c.3844T>A (p.Ser1282Thr) c.3565T>A (p.Ser1189Thr) c.3931T>A (p.Ser1311Thr) c.3757T>A (p.Ser1253Thr) c.3901T>A (p.Ser1301Thr) c.3814T>A (p.Ser1272Thr) c.3622T>A (p.Ser1208Thr) c.3397T>A (p.Ser1133Thr) c.3079T>A (p.Ser1027Thr) c.3988T>A (p.Ser1330Thr) | |
| 13 | g.101081568_101081569del | CA2739277734 | NALCN | c.3843_3844del (p.Ser1282AlafsTer28) c.3564_3565del (p.Ser1189AlafsTer28) c.3930_3931del (p.Ser1311AlafsTer28) c.3756_3757del (p.Ser1253AlafsTer28) c.3900_3901del (p.Ser1301AlafsTer28) c.3813_3814del (p.Ser1272AlafsTer28) c.3621_3622del (p.Ser1208AlafsTer28) c.3396_3397del (p.Ser1133AlafsTer28) c.3078_3079del (p.Ser1027AlafsTer28) c.3987_3988del (p.Ser1330AlafsTer28) | ClinVar |
| 13 | g.101081569C>A | CA484551993 | NALCN | c.3843G>T (p.Thr1281=) c.3564G>T (p.Thr1188=) c.3930G>T (p.Thr1310=) c.3756G>T (p.Thr1252=) c.3900G>T (p.Thr1300=) c.3813G>T (p.Thr1271=) c.3621G>T (p.Thr1207=) c.3396G>T (p.Thr1132=) c.3078G>T (p.Thr1026=) c.3987G>T (p.Thr1329=) | |
| 13 | g.101081569C= | CA2114388846 | NALCN | c.3843G= (p.Thr1281=) c.3564G= (p.Thr1188=) c.3930G= (p.Thr1310=) c.3756G= (p.Thr1252=) c.3900G= (p.Thr1300=) c.3813G= (p.Thr1271=) c.3621G= (p.Thr1207=) c.3396G= (p.Thr1132=) c.3078G= (p.Thr1026=) c.3987G= (p.Thr1329=) | |
| 13 | g.101081569C>G | CA484551995 | NALCN | c.3843G>C (p.Thr1281=) c.3564G>C (p.Thr1188=) c.3930G>C (p.Thr1310=) c.3756G>C (p.Thr1252=) c.3900G>C (p.Thr1300=) c.3813G>C (p.Thr1271=) c.3621G>C (p.Thr1207=) c.3396G>C (p.Thr1132=) c.3078G>C (p.Thr1026=) c.3987G>C (p.Thr1329=) | |
| 13 | g.101081569C>T | CA7035283 | NALCN | c.3843G>A (p.Thr1281=) c.3564G>A (p.Thr1188=) c.3930G>A (p.Thr1310=) c.3756G>A (p.Thr1252=) c.3900G>A (p.Thr1300=) c.3813G>A (p.Thr1271=) c.3621G>A (p.Thr1207=) c.3396G>A (p.Thr1132=) c.3078G>A (p.Thr1026=) c.3987G>A (p.Thr1329=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.101081570G>A | CA388650254 | NALCN | c.3842C>T (p.Thr1281Met) c.3563C>T (p.Thr1188Met) c.3929C>T (p.Thr1310Met) c.3755C>T (p.Thr1252Met) c.3899C>T (p.Thr1300Met) c.3812C>T (p.Thr1271Met) c.3620C>T (p.Thr1207Met) c.3395C>T (p.Thr1132Met) c.3077C>T (p.Thr1026Met) c.3986C>T (p.Thr1329Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.101081570G>C | CA388650255 | NALCN | c.3842C>G (p.Thr1281Arg) c.3563C>G (p.Thr1188Arg) c.3929C>G (p.Thr1310Arg) c.3755C>G (p.Thr1252Arg) c.3899C>G (p.Thr1300Arg) c.3812C>G (p.Thr1271Arg) c.3620C>G (p.Thr1207Arg) c.3395C>G (p.Thr1132Arg) c.3077C>G (p.Thr1026Arg) c.3986C>G (p.Thr1329Arg) | |
| 13 | g.101081570G= | CA2114388847 | NALCN | c.3842C= (p.Thr1281=) c.3563C= (p.Thr1188=) c.3929C= (p.Thr1310=) c.3755C= (p.Thr1252=) c.3899C= (p.Thr1300=) c.3812C= (p.Thr1271=) c.3620C= (p.Thr1207=) c.3395C= (p.Thr1132=) c.3077C= (p.Thr1026=) c.3986C= (p.Thr1329=) | |
| 13 | g.101081570G>T | CA388650257 | NALCN | c.3842C>A (p.Thr1281Lys) c.3563C>A (p.Thr1188Lys) c.3929C>A (p.Thr1310Lys) c.3755C>A (p.Thr1252Lys) c.3899C>A (p.Thr1300Lys) c.3812C>A (p.Thr1271Lys) c.3620C>A (p.Thr1207Lys) c.3395C>A (p.Thr1132Lys) c.3077C>A (p.Thr1026Lys) c.3986C>A (p.Thr1329Lys) | |
| 13 | g.101081571T>A | CA388650258 | NALCN | c.3841A>T (p.Thr1281Ser) c.3562A>T (p.Thr1188Ser) c.3928A>T (p.Thr1310Ser) c.3754A>T (p.Thr1252Ser) c.3898A>T (p.Thr1300Ser) c.3811A>T (p.Thr1271Ser) c.3619A>T (p.Thr1207Ser) c.3394A>T (p.Thr1132Ser) c.3076A>T (p.Thr1026Ser) c.3985A>T (p.Thr1329Ser) | |
| 13 | g.101081571T>C | CA388650259 | NALCN | c.3841A>G (p.Thr1281Ala) c.3562A>G (p.Thr1188Ala) c.3928A>G (p.Thr1310Ala) c.3754A>G (p.Thr1252Ala) c.3898A>G (p.Thr1300Ala) c.3811A>G (p.Thr1271Ala) c.3619A>G (p.Thr1207Ala) c.3394A>G (p.Thr1132Ala) c.3076A>G (p.Thr1026Ala) c.3985A>G (p.Thr1329Ala) | gnomAD v4 |
| 13 | g.101081571T>G | CA388650261 | NALCN | c.3841A>C (p.Thr1281Pro) c.3562A>C (p.Thr1188Pro) c.3928A>C (p.Thr1310Pro) c.3754A>C (p.Thr1252Pro) c.3898A>C (p.Thr1300Pro) c.3811A>C (p.Thr1271Pro) c.3619A>C (p.Thr1207Pro) c.3394A>C (p.Thr1132Pro) c.3076A>C (p.Thr1026Pro) c.3985A>C (p.Thr1329Pro) | |
| 13 | g.101081572C>A | CA484552010 | NALCN | c.3840G>T (p.Val1280=) c.3561G>T (p.Val1187=) c.3927G>T (p.Val1309=) c.3753G>T (p.Val1251=) c.3897G>T (p.Val1299=) c.3810G>T (p.Val1270=) c.3618G>T (p.Val1206=) c.3393G>T (p.Val1131=) c.3075G>T (p.Val1025=) c.3984G>T (p.Val1328=) | |
| 13 | g.101081572C>G | CA484552012 | NALCN | c.3840G>C (p.Val1280=) c.3561G>C (p.Val1187=) c.3927G>C (p.Val1309=) c.3753G>C (p.Val1251=) c.3897G>C (p.Val1299=) c.3810G>C (p.Val1270=) c.3618G>C (p.Val1206=) c.3393G>C (p.Val1131=) c.3075G>C (p.Val1025=) c.3984G>C (p.Val1328=) | |
| 13 | g.101081572C>T | CA484552015 | NALCN | c.3840G>A (p.Val1280=) c.3561G>A (p.Val1187=) c.3927G>A (p.Val1309=) c.3753G>A (p.Val1251=) c.3897G>A (p.Val1299=) c.3810G>A (p.Val1270=) c.3618G>A (p.Val1206=) c.3393G>A (p.Val1131=) c.3075G>A (p.Val1025=) c.3984G>A (p.Val1328=) | gnomAD v4 |
| 13 | g.101081573A>C | CA388650263 | NALCN | c.3839T>G (p.Val1280Gly) c.3560T>G (p.Val1187Gly) c.3926T>G (p.Val1309Gly) c.3752T>G (p.Val1251Gly) c.3896T>G (p.Val1299Gly) c.3809T>G (p.Val1270Gly) c.3617T>G (p.Val1206Gly) c.3392T>G (p.Val1131Gly) c.3074T>G (p.Val1025Gly) c.3983T>G (p.Val1328Gly) | |
| 13 | g.101081573A>G | CA388650265 | NALCN | c.3839T>C (p.Val1280Ala) c.3560T>C (p.Val1187Ala) c.3926T>C (p.Val1309Ala) c.3752T>C (p.Val1251Ala) c.3896T>C (p.Val1299Ala) c.3809T>C (p.Val1270Ala) c.3617T>C (p.Val1206Ala) c.3392T>C (p.Val1131Ala) c.3074T>C (p.Val1025Ala) c.3983T>C (p.Val1328Ala) | |
| 13 | g.101081573A>T | CA388650266 | NALCN | c.3839T>A (p.Val1280Glu) c.3560T>A (p.Val1187Glu) c.3926T>A (p.Val1309Glu) c.3752T>A (p.Val1251Glu) c.3896T>A (p.Val1299Glu) c.3809T>A (p.Val1270Glu) c.3617T>A (p.Val1206Glu) c.3392T>A (p.Val1131Glu) c.3074T>A (p.Val1025Glu) c.3983T>A (p.Val1328Glu) | |
| 13 | g.101081574C>A | CA388650268 | NALCN | c.3838G>T (p.Val1280Leu) c.3559G>T (p.Val1187Leu) c.3925G>T (p.Val1309Leu) c.3751G>T (p.Val1251Leu) c.3895G>T (p.Val1299Leu) c.3808G>T (p.Val1270Leu) c.3616G>T (p.Val1206Leu) c.3391G>T (p.Val1131Leu) c.3073G>T (p.Val1025Leu) c.3982G>T (p.Val1328Leu) | |
| 13 | g.101081574C>G | CA388650271 | NALCN | c.3838G>C (p.Val1280Leu) c.3559G>C (p.Val1187Leu) c.3925G>C (p.Val1309Leu) c.3751G>C (p.Val1251Leu) c.3895G>C (p.Val1299Leu) c.3808G>C (p.Val1270Leu) c.3616G>C (p.Val1206Leu) c.3391G>C (p.Val1131Leu) c.3073G>C (p.Val1025Leu) c.3982G>C (p.Val1328Leu) | |
| 13 | g.101081574C>T | CA388650269 | NALCN | c.3838G>A (p.Val1280Met) c.3559G>A (p.Val1187Met) c.3925G>A (p.Val1309Met) c.3751G>A (p.Val1251Met) c.3895G>A (p.Val1299Met) c.3808G>A (p.Val1270Met) c.3616G>A (p.Val1206Met) c.3391G>A (p.Val1131Met) c.3073G>A (p.Val1025Met) c.3982G>A (p.Val1328Met) | |
| 13 | g.101081575C>A | CA484552038 | NALCN | c.3837G>T (p.Leu1279=) c.3558G>T (p.Leu1186=) c.3924G>T (p.Leu1308=) c.3750G>T (p.Leu1250=) c.3894G>T (p.Leu1298=) c.3807G>T (p.Leu1269=) c.3615G>T (p.Leu1205=) c.3390G>T (p.Leu1130=) c.3072G>T (p.Leu1024=) c.3981G>T (p.Leu1327=) | |
| 13 | g.101081575C= | CA2114388848 | NALCN | c.3837G= (p.Leu1279=) c.3558G= (p.Leu1186=) c.3924G= (p.Leu1308=) c.3750G= (p.Leu1250=) c.3894G= (p.Leu1298=) c.3807G= (p.Leu1269=) c.3615G= (p.Leu1205=) c.3390G= (p.Leu1130=) c.3072G= (p.Leu1024=) c.3981G= (p.Leu1327=) | |
| 13 | g.101081575C>G | CA7035284 | NALCN | c.3837G>C (p.Leu1279=) c.3558G>C (p.Leu1186=) c.3924G>C (p.Leu1308=) c.3750G>C (p.Leu1250=) c.3894G>C (p.Leu1298=) c.3807G>C (p.Leu1269=) c.3615G>C (p.Leu1205=) c.3390G>C (p.Leu1130=) c.3072G>C (p.Leu1024=) c.3981G>C (p.Leu1327=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101081575C>T | CA484552035 | NALCN | c.3837G>A (p.Leu1279=) c.3558G>A (p.Leu1186=) c.3924G>A (p.Leu1308=) c.3750G>A (p.Leu1250=) c.3894G>A (p.Leu1298=) c.3807G>A (p.Leu1269=) c.3615G>A (p.Leu1205=) c.3390G>A (p.Leu1130=) c.3072G>A (p.Leu1024=) c.3981G>A (p.Leu1327=) | |
| 13 | g.101081576A>C | CA388650276 | NALCN | c.3836T>G (p.Leu1279Arg) c.3557T>G (p.Leu1186Arg) c.3923T>G (p.Leu1308Arg) c.3749T>G (p.Leu1250Arg) c.3893T>G (p.Leu1298Arg) c.3806T>G (p.Leu1269Arg) c.3614T>G (p.Leu1205Arg) c.3389T>G (p.Leu1130Arg) c.3071T>G (p.Leu1024Arg) c.3980T>G (p.Leu1327Arg) | |
| 13 | g.101081576A>G | CA388650273 | NALCN | c.3836T>C (p.Leu1279Pro) c.3557T>C (p.Leu1186Pro) c.3923T>C (p.Leu1308Pro) c.3749T>C (p.Leu1250Pro) c.3893T>C (p.Leu1298Pro) c.3806T>C (p.Leu1269Pro) c.3614T>C (p.Leu1205Pro) c.3389T>C (p.Leu1130Pro) c.3071T>C (p.Leu1024Pro) c.3980T>C (p.Leu1327Pro) | |
| 13 | g.101081576A>T | CA388650275 | NALCN | c.3836T>A (p.Leu1279Gln) c.3557T>A (p.Leu1186Gln) c.3923T>A (p.Leu1308Gln) c.3749T>A (p.Leu1250Gln) c.3893T>A (p.Leu1298Gln) c.3806T>A (p.Leu1269Gln) c.3614T>A (p.Leu1205Gln) c.3389T>A (p.Leu1130Gln) c.3071T>A (p.Leu1024Gln) c.3980T>A (p.Leu1327Gln) | |
| 13 | g.101081577G>A | CA484552049 | NALCN | c.3835C>T (p.Leu1279=) c.3556C>T (p.Leu1186=) c.3922C>T (p.Leu1308=) c.3748C>T (p.Leu1250=) c.3892C>T (p.Leu1298=) c.3805C>T (p.Leu1269=) c.3613C>T (p.Leu1205=) c.3388C>T (p.Leu1130=) c.3070C>T (p.Leu1024=) c.3979C>T (p.Leu1327=) | |
| 13 | g.101081577G>C | CA388650278 | NALCN | c.3835C>G (p.Leu1279Val) c.3556C>G (p.Leu1186Val) c.3922C>G (p.Leu1308Val) c.3748C>G (p.Leu1250Val) c.3892C>G (p.Leu1298Val) c.3805C>G (p.Leu1269Val) c.3613C>G (p.Leu1205Val) c.3388C>G (p.Leu1130Val) c.3070C>G (p.Leu1024Val) c.3979C>G (p.Leu1327Val) | |
| 13 | g.101081577G>T | CA388650279 | NALCN | c.3835C>A (p.Leu1279Met) c.3556C>A (p.Leu1186Met) c.3922C>A (p.Leu1308Met) c.3748C>A (p.Leu1250Met) c.3892C>A (p.Leu1298Met) c.3805C>A (p.Leu1269Met) c.3613C>A (p.Leu1205Met) c.3388C>A (p.Leu1130Met) c.3070C>A (p.Leu1024Met) c.3979C>A (p.Leu1327Met) | |
| 13 | g.101081578del | CA2623578307 | NALCN | c.3835del (p.Leu1279TrpfsTer2) c.3556del (p.Leu1186TrpfsTer2) c.3922del (p.Leu1308TrpfsTer2) c.3748del (p.Leu1250TrpfsTer2) c.3892del (p.Leu1298TrpfsTer2) c.3805del (p.Leu1269TrpfsTer2) c.3613del (p.Leu1205TrpfsTer2) c.3388del (p.Leu1130TrpfsTer2) c.3070del (p.Leu1024TrpfsTer2) c.3979del (p.Leu1327TrpfsTer2) | gnomAD v4 |
| 13 | g.101081578G>A | CA7035285 | NALCN | c.3834C>T (p.Leu1278=) c.3555C>T (p.Leu1185=) c.3921C>T (p.Leu1307=) c.3747C>T (p.Leu1249=) c.3891C>T (p.Leu1297=) c.3804C>T (p.Leu1268=) c.3612C>T (p.Leu1204=) c.3387C>T (p.Leu1129=) c.3069C>T (p.Leu1023=) c.3978C>T (p.Leu1326=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 13 | g.101081578G>C | CA484552056 | NALCN | c.3834C>G (p.Leu1278=) c.3555C>G (p.Leu1185=) c.3921C>G (p.Leu1307=) c.3747C>G (p.Leu1249=) c.3891C>G (p.Leu1297=) c.3804C>G (p.Leu1268=) c.3612C>G (p.Leu1204=) c.3387C>G (p.Leu1129=) c.3069C>G (p.Leu1023=) c.3978C>G (p.Leu1326=) | |
| 13 | g.101081578G= | CA2114388849 | NALCN | c.3834C= (p.Leu1278=) c.3555C= (p.Leu1185=) c.3921C= (p.Leu1307=) c.3747C= (p.Leu1249=) c.3891C= (p.Leu1297=) c.3804C= (p.Leu1268=) c.3612C= (p.Leu1204=) c.3387C= (p.Leu1129=) c.3069C= (p.Leu1023=) c.3978C= (p.Leu1326=) | |
| 13 | g.101081578G>T | CA484552059 | NALCN | c.3834C>A (p.Leu1278=) c.3555C>A (p.Leu1185=) c.3921C>A (p.Leu1307=) c.3747C>A (p.Leu1249=) c.3891C>A (p.Leu1297=) c.3804C>A (p.Leu1268=) c.3612C>A (p.Leu1204=) c.3387C>A (p.Leu1129=) c.3069C>A (p.Leu1023=) c.3978C>A (p.Leu1326=) | |
| 13 | g.101081579A>C | CA388650281 | NALCN | c.3833T>G (p.Leu1278Arg) c.3554T>G (p.Leu1185Arg) c.3920T>G (p.Leu1307Arg) c.3746T>G (p.Leu1249Arg) c.3890T>G (p.Leu1297Arg) c.3803T>G (p.Leu1268Arg) c.3611T>G (p.Leu1204Arg) c.3386T>G (p.Leu1129Arg) c.3068T>G (p.Leu1023Arg) c.3977T>G (p.Leu1326Arg) | |
| 13 | g.101081579A>G | CA388650282 | NALCN | c.3833T>C (p.Leu1278Pro) c.3554T>C (p.Leu1185Pro) c.3920T>C (p.Leu1307Pro) c.3746T>C (p.Leu1249Pro) c.3890T>C (p.Leu1297Pro) c.3803T>C (p.Leu1268Pro) c.3611T>C (p.Leu1204Pro) c.3386T>C (p.Leu1129Pro) c.3068T>C (p.Leu1023Pro) c.3977T>C (p.Leu1326Pro) | |
| 13 | g.101081579A>T | CA388650284 | NALCN | c.3833T>A (p.Leu1278His) c.3554T>A (p.Leu1185His) c.3920T>A (p.Leu1307His) c.3746T>A (p.Leu1249His) c.3890T>A (p.Leu1297His) c.3803T>A (p.Leu1268His) c.3611T>A (p.Leu1204His) c.3386T>A (p.Leu1129His) c.3068T>A (p.Leu1023His) c.3977T>A (p.Leu1326His) | |
| 13 | g.101081580G>A | CA388650286 | NALCN | c.3832C>T (p.Leu1278Phe) c.3553C>T (p.Leu1185Phe) c.3919C>T (p.Leu1307Phe) c.3745C>T (p.Leu1249Phe) c.3889C>T (p.Leu1297Phe) c.3802C>T (p.Leu1268Phe) c.3610C>T (p.Leu1204Phe) c.3385C>T (p.Leu1129Phe) c.3067C>T (p.Leu1023Phe) c.3976C>T (p.Leu1326Phe) | |
| 13 | g.101081580G>C | CA388650287 | NALCN | c.3832C>G (p.Leu1278Val) c.3553C>G (p.Leu1185Val) c.3919C>G (p.Leu1307Val) c.3745C>G (p.Leu1249Val) c.3889C>G (p.Leu1297Val) c.3802C>G (p.Leu1268Val) c.3610C>G (p.Leu1204Val) c.3385C>G (p.Leu1129Val) c.3067C>G (p.Leu1023Val) c.3976C>G (p.Leu1326Val) | |
| 13 | g.101081580G>T | CA388650288 | NALCN | c.3832C>A (p.Leu1278Ile) c.3553C>A (p.Leu1185Ile) c.3919C>A (p.Leu1307Ile) c.3745C>A (p.Leu1249Ile) c.3889C>A (p.Leu1297Ile) c.3802C>A (p.Leu1268Ile) c.3610C>A (p.Leu1204Ile) c.3385C>A (p.Leu1129Ile) c.3067C>A (p.Leu1023Ile) c.3976C>A (p.Leu1326Ile) | |
| 13 | g.101081581A>C | CA388650290 | NALCN | c.3831T>G (p.Asp1277Glu) c.3552T>G (p.Asp1184Glu) c.3918T>G (p.Asp1306Glu) c.3744T>G (p.Asp1248Glu) c.3888T>G (p.Asp1296Glu) c.3801T>G (p.Asp1267Glu) c.3609T>G (p.Asp1203Glu) c.3384T>G (p.Asp1128Glu) c.3066T>G (p.Asp1022Glu) c.3975T>G (p.Asp1325Glu) | |
| 13 | g.101081581A>G | CA484552074 | NALCN | c.3831T>C (p.Asp1277=) c.3552T>C (p.Asp1184=) c.3918T>C (p.Asp1306=) c.3744T>C (p.Asp1248=) c.3888T>C (p.Asp1296=) c.3801T>C (p.Asp1267=) c.3609T>C (p.Asp1203=) c.3384T>C (p.Asp1128=) c.3066T>C (p.Asp1022=) c.3975T>C (p.Asp1325=) | dbSNP |
| 13 | g.101081581A>T | CA388650289 | NALCN | c.3831T>A (p.Asp1277Glu) c.3552T>A (p.Asp1184Glu) c.3918T>A (p.Asp1306Glu) c.3744T>A (p.Asp1248Glu) c.3888T>A (p.Asp1296Glu) c.3801T>A (p.Asp1267Glu) c.3609T>A (p.Asp1203Glu) c.3384T>A (p.Asp1128Glu) c.3066T>A (p.Asp1022Glu) c.3975T>A (p.Asp1325Glu) |