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.101103216del | CA2800368995 | NALCN | c.3015del (p.Val1006LeufsTer20) c.2736del (p.Val913LeufsTer20) c.3102del (p.Val1035LeufsTer20) c.2928del (p.Val977LeufsTer20) c.3072del (p.Val1025LeufsTer20) c.2985del (p.Val996LeufsTer20) c.2793del (p.Val932LeufsTer20) c.2568del (p.Val857LeufsTer20) c.2250del (p.Val751LeufsTer20) c.3159del (p.Val1054LeufsTer20) | |
| 13 | g.101103216T>A | CA7035524 | NALCN | c.3013A>T (p.Lys1005Ter) c.2734A>T (p.Lys912Ter) c.3100A>T (p.Lys1034Ter) c.2926A>T (p.Lys976Ter) c.3070A>T (p.Lys1024Ter) c.2983A>T (p.Lys995Ter) c.2791A>T (p.Lys931Ter) c.2566A>T (p.Lys856Ter) c.2248A>T (p.Lys750Ter) c.3157A>T (p.Lys1053Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101103216T>C | CA388669211 | NALCN | c.3013A>G (p.Lys1005Glu) c.2734A>G (p.Lys912Glu) c.3100A>G (p.Lys1034Glu) c.2926A>G (p.Lys976Glu) c.3070A>G (p.Lys1024Glu) c.2983A>G (p.Lys995Glu) c.2791A>G (p.Lys931Glu) c.2566A>G (p.Lys856Glu) c.2248A>G (p.Lys750Glu) c.3157A>G (p.Lys1053Glu) | gnomAD v4 |
| 13 | g.101103216T>G | CA388669212 | NALCN | c.3013A>C (p.Lys1005Gln) c.2734A>C (p.Lys912Gln) c.3100A>C (p.Lys1034Gln) c.2926A>C (p.Lys976Gln) c.3070A>C (p.Lys1024Gln) c.2983A>C (p.Lys995Gln) c.2791A>C (p.Lys931Gln) c.2566A>C (p.Lys856Gln) c.2248A>C (p.Lys750Gln) c.3157A>C (p.Lys1053Gln) | |
| 13 | g.101103216T= | CA2114398043 | NALCN | c.3013A= (p.Lys1005=) c.2734A= (p.Lys912=) c.3100A= (p.Lys1034=) c.2926A= (p.Lys976=) c.3070A= (p.Lys1024=) c.2983A= (p.Lys995=) c.2791A= (p.Lys931=) c.2566A= (p.Lys856=) c.2248A= (p.Lys750=) c.3157A= (p.Lys1053=) | |
| 13 | g.101103217C>A | CA388669213 | NALCN | c.3012G>T (p.Arg1004Ser) c.2733G>T (p.Arg911Ser) c.3099G>T (p.Arg1033Ser) c.2925G>T (p.Arg975Ser) c.3069G>T (p.Arg1023Ser) c.2982G>T (p.Arg994Ser) c.2790G>T (p.Arg930Ser) c.2565G>T (p.Arg855Ser) c.2247G>T (p.Arg749Ser) c.3156G>T (p.Arg1052Ser) | |
| 13 | g.101103217C>G | CA388669214 | NALCN | c.3012G>C (p.Arg1004Ser) c.2733G>C (p.Arg911Ser) c.3099G>C (p.Arg1033Ser) c.2925G>C (p.Arg975Ser) c.3069G>C (p.Arg1023Ser) c.2982G>C (p.Arg994Ser) c.2790G>C (p.Arg930Ser) c.2565G>C (p.Arg855Ser) c.2247G>C (p.Arg749Ser) c.3156G>C (p.Arg1052Ser) | gnomAD v4 COSMIC |
| 13 | g.101103217C>T | CA484553221 | NALCN | c.3012G>A (p.Arg1004=) c.2733G>A (p.Arg911=) c.3099G>A (p.Arg1033=) c.2925G>A (p.Arg975=) c.3069G>A (p.Arg1023=) c.2982G>A (p.Arg994=) c.2790G>A (p.Arg930=) c.2565G>A (p.Arg855=) c.2247G>A (p.Arg749=) c.3156G>A (p.Arg1052=) | |
| 13 | g.101103218C>A | CA388669215 | NALCN | c.3011G>T (p.Arg1004Met) c.2732G>T (p.Arg911Met) c.3098G>T (p.Arg1033Met) c.2924G>T (p.Arg975Met) c.3068G>T (p.Arg1023Met) c.2981G>T (p.Arg994Met) c.2789G>T (p.Arg930Met) c.2564G>T (p.Arg855Met) c.2246G>T (p.Arg749Met) c.3155G>T (p.Arg1052Met) | |
| 13 | g.101103218C>G | CA388669216 | NALCN | c.3011G>C (p.Arg1004Thr) c.2732G>C (p.Arg911Thr) c.3098G>C (p.Arg1033Thr) c.2924G>C (p.Arg975Thr) c.3068G>C (p.Arg1023Thr) c.2981G>C (p.Arg994Thr) c.2789G>C (p.Arg930Thr) c.2564G>C (p.Arg855Thr) c.2246G>C (p.Arg749Thr) c.3155G>C (p.Arg1052Thr) | |
| 13 | g.101103218C>T | CA388669217 | NALCN | c.3011G>A (p.Arg1004Lys) c.2732G>A (p.Arg911Lys) c.3098G>A (p.Arg1033Lys) c.2924G>A (p.Arg975Lys) c.3068G>A (p.Arg1023Lys) c.2981G>A (p.Arg994Lys) c.2789G>A (p.Arg930Lys) c.2564G>A (p.Arg855Lys) c.2246G>A (p.Arg749Lys) c.3155G>A (p.Arg1052Lys) | COSMIC |
| 13 | g.101103219T>A | CA388669218 | NALCN | c.3010A>T (p.Arg1004Trp) c.2731A>T (p.Arg911Trp) c.3097A>T (p.Arg1033Trp) c.2923A>T (p.Arg975Trp) c.3067A>T (p.Arg1023Trp) c.2980A>T (p.Arg994Trp) c.2788A>T (p.Arg930Trp) c.2563A>T (p.Arg855Trp) c.2245A>T (p.Arg749Trp) c.3154A>T (p.Arg1052Trp) | gnomAD v4 |
| 13 | g.101103219T>C | CA388669219 | NALCN | c.3010A>G (p.Arg1004Gly) c.2731A>G (p.Arg911Gly) c.3097A>G (p.Arg1033Gly) c.2923A>G (p.Arg975Gly) c.3067A>G (p.Arg1023Gly) c.2980A>G (p.Arg994Gly) c.2788A>G (p.Arg930Gly) c.2563A>G (p.Arg855Gly) c.2245A>G (p.Arg749Gly) c.3154A>G (p.Arg1052Gly) | |
| 13 | g.101103219T>G | CA484553222 | NALCN | c.3010A>C (p.Arg1004=) c.2731A>C (p.Arg911=) c.3097A>C (p.Arg1033=) c.2923A>C (p.Arg975=) c.3067A>C (p.Arg1023=) c.2980A>C (p.Arg994=) c.2788A>C (p.Arg930=) c.2563A>C (p.Arg855=) c.2245A>C (p.Arg749=) c.3154A>C (p.Arg1052=) | |
| 13 | g.101103220C>A | CA388669220 | NALCN | c.3009G>T (p.Met1003Ile) c.2730G>T (p.Met910Ile) c.3096G>T (p.Met1032Ile) c.2922G>T (p.Met974Ile) c.3066G>T (p.Met1022Ile) c.2979G>T (p.Met993Ile) c.2787G>T (p.Met929Ile) c.2562G>T (p.Met854Ile) c.2244G>T (p.Met748Ile) c.3153G>T (p.Met1051Ile) | |
| 13 | g.101103220C>G | CA388669221 | NALCN | c.3009G>C (p.Met1003Ile) c.2730G>C (p.Met910Ile) c.3096G>C (p.Met1032Ile) c.2922G>C (p.Met974Ile) c.3066G>C (p.Met1022Ile) c.2979G>C (p.Met993Ile) c.2787G>C (p.Met929Ile) c.2562G>C (p.Met854Ile) c.2244G>C (p.Met748Ile) c.3153G>C (p.Met1051Ile) | |
| 13 | g.101103220C>T | CA388669222 | NALCN | c.3009G>A (p.Met1003Ile) c.2730G>A (p.Met910Ile) c.3096G>A (p.Met1032Ile) c.2922G>A (p.Met974Ile) c.3066G>A (p.Met1022Ile) c.2979G>A (p.Met993Ile) c.2787G>A (p.Met929Ile) c.2562G>A (p.Met854Ile) c.2244G>A (p.Met748Ile) c.3153G>A (p.Met1051Ile) | ClinVar |
| 13 | g.101103221A= | CA2114398044 | NALCN | c.3008T= (p.Met1003=) c.2729T= (p.Met910=) c.3095T= (p.Met1032=) c.2921T= (p.Met974=) c.3065T= (p.Met1022=) c.2978T= (p.Met993=) c.2786T= (p.Met929=) c.2561T= (p.Met854=) c.2243T= (p.Met748=) c.3152T= (p.Met1051=) | |
| 13 | g.101103221A>C | CA388669223 | NALCN | c.3008T>G (p.Met1003Arg) c.2729T>G (p.Met910Arg) c.3095T>G (p.Met1032Arg) c.2921T>G (p.Met974Arg) c.3065T>G (p.Met1022Arg) c.2978T>G (p.Met993Arg) c.2786T>G (p.Met929Arg) c.2561T>G (p.Met854Arg) c.2243T>G (p.Met748Arg) c.3152T>G (p.Met1051Arg) | gnomAD v4 |
| 13 | g.101103221A>G | CA388669224 | NALCN | c.3008T>C (p.Met1003Thr) c.2729T>C (p.Met910Thr) c.3095T>C (p.Met1032Thr) c.2921T>C (p.Met974Thr) c.3065T>C (p.Met1022Thr) c.2978T>C (p.Met993Thr) c.2786T>C (p.Met929Thr) c.2561T>C (p.Met854Thr) c.2243T>C (p.Met748Thr) c.3152T>C (p.Met1051Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.101103221A>T | CA388669225 | NALCN | c.3008T>A (p.Met1003Lys) c.2729T>A (p.Met910Lys) c.3095T>A (p.Met1032Lys) c.2921T>A (p.Met974Lys) c.3065T>A (p.Met1022Lys) c.2978T>A (p.Met993Lys) c.2786T>A (p.Met929Lys) c.2561T>A (p.Met854Lys) c.2243T>A (p.Met748Lys) c.3152T>A (p.Met1051Lys) | |
| 13 | g.101103222T>A | CA388669228 | NALCN | c.3007A>T (p.Met1003Leu) c.2728A>T (p.Met910Leu) c.3094A>T (p.Met1032Leu) c.2920A>T (p.Met974Leu) c.3064A>T (p.Met1022Leu) c.2977A>T (p.Met993Leu) c.2785A>T (p.Met929Leu) c.2560A>T (p.Met854Leu) c.2242A>T (p.Met748Leu) c.3151A>T (p.Met1051Leu) | |
| 13 | g.101103222T>C | CA388669226 | NALCN | c.3007A>G (p.Met1003Val) c.2728A>G (p.Met910Val) c.3094A>G (p.Met1032Val) c.2920A>G (p.Met974Val) c.3064A>G (p.Met1022Val) c.2977A>G (p.Met993Val) c.2785A>G (p.Met929Val) c.2560A>G (p.Met854Val) c.2242A>G (p.Met748Val) c.3151A>G (p.Met1051Val) | |
| 13 | g.101103222T>G | CA388669227 | NALCN | c.3007A>C (p.Met1003Leu) c.2728A>C (p.Met910Leu) c.3094A>C (p.Met1032Leu) c.2920A>C (p.Met974Leu) c.3064A>C (p.Met1022Leu) c.2977A>C (p.Met993Leu) c.2785A>C (p.Met929Leu) c.2560A>C (p.Met854Leu) c.2242A>C (p.Met748Leu) c.3151A>C (p.Met1051Leu) | |
| 13 | g.101103223C>A | CA388669229 | NALCN | c.3006G>T (p.Gln1002His) c.2727G>T (p.Gln909His) c.3093G>T (p.Gln1031His) c.2919G>T (p.Gln973His) c.3063G>T (p.Gln1021His) c.2976G>T (p.Gln992His) c.2784G>T (p.Gln928His) c.2559G>T (p.Gln853His) c.2241G>T (p.Gln747His) c.3150G>T (p.Gln1050His) | |
| 13 | g.101103223C>G | CA388669230 | NALCN | c.3006G>C (p.Gln1002His) c.2727G>C (p.Gln909His) c.3093G>C (p.Gln1031His) c.2919G>C (p.Gln973His) c.3063G>C (p.Gln1021His) c.2976G>C (p.Gln992His) c.2784G>C (p.Gln928His) c.2559G>C (p.Gln853His) c.2241G>C (p.Gln747His) c.3150G>C (p.Gln1050His) | |
| 13 | g.101103223C>T | CA484553224 | NALCN | c.3006G>A (p.Gln1002=) c.2727G>A (p.Gln909=) c.3093G>A (p.Gln1031=) c.2919G>A (p.Gln973=) c.3063G>A (p.Gln1021=) c.2976G>A (p.Gln992=) c.2784G>A (p.Gln928=) c.2559G>A (p.Gln853=) c.2241G>A (p.Gln747=) c.3150G>A (p.Gln1050=) | |
| 13 | g.101103224T>A | CA388669231 | NALCN | c.3005A>T (p.Gln1002Leu) c.2726A>T (p.Gln909Leu) c.3092A>T (p.Gln1031Leu) c.2918A>T (p.Gln973Leu) c.3062A>T (p.Gln1021Leu) c.2975A>T (p.Gln992Leu) c.2783A>T (p.Gln928Leu) c.2558A>T (p.Gln853Leu) c.2240A>T (p.Gln747Leu) c.3149A>T (p.Gln1050Leu) | |
| 13 | g.101103224T>C | CA388669232 | NALCN | c.3005A>G (p.Gln1002Arg) c.2726A>G (p.Gln909Arg) c.3092A>G (p.Gln1031Arg) c.2918A>G (p.Gln973Arg) c.3062A>G (p.Gln1021Arg) c.2975A>G (p.Gln992Arg) c.2783A>G (p.Gln928Arg) c.2558A>G (p.Gln853Arg) c.2240A>G (p.Gln747Arg) c.3149A>G (p.Gln1050Arg) | |
| 13 | g.101103224T>G | CA388669233 | NALCN | c.3005A>C (p.Gln1002Pro) c.2726A>C (p.Gln909Pro) c.3092A>C (p.Gln1031Pro) c.2918A>C (p.Gln973Pro) c.3062A>C (p.Gln1021Pro) c.2975A>C (p.Gln992Pro) c.2783A>C (p.Gln928Pro) c.2558A>C (p.Gln853Pro) c.2240A>C (p.Gln747Pro) c.3149A>C (p.Gln1050Pro) | |
| 13 | g.101103225G>A | CA388669234 | NALCN | c.3004C>T (p.Gln1002Ter) c.2725C>T (p.Gln909Ter) c.3091C>T (p.Gln1031Ter) c.2917C>T (p.Gln973Ter) c.3061C>T (p.Gln1021Ter) c.2974C>T (p.Gln992Ter) c.2782C>T (p.Gln928Ter) c.2557C>T (p.Gln853Ter) c.2239C>T (p.Gln747Ter) c.3148C>T (p.Gln1050Ter) | |
| 13 | g.101103225G>C | CA388669236 | NALCN | c.3004C>G (p.Gln1002Glu) c.2725C>G (p.Gln909Glu) c.3091C>G (p.Gln1031Glu) c.2917C>G (p.Gln973Glu) c.3061C>G (p.Gln1021Glu) c.2974C>G (p.Gln992Glu) c.2782C>G (p.Gln928Glu) c.2557C>G (p.Gln853Glu) c.2239C>G (p.Gln747Glu) c.3148C>G (p.Gln1050Glu) | |
| 13 | g.101103225G>T | CA388669235 | NALCN | c.3004C>A (p.Gln1002Lys) c.2725C>A (p.Gln909Lys) c.3091C>A (p.Gln1031Lys) c.2917C>A (p.Gln973Lys) c.3061C>A (p.Gln1021Lys) c.2974C>A (p.Gln992Lys) c.2782C>A (p.Gln928Lys) c.2557C>A (p.Gln853Lys) c.2239C>A (p.Gln747Lys) c.3148C>A (p.Gln1050Lys) | gnomAD v4 |
| 13 | g.101103226G>A | CA484553227 | NALCN | c.3003C>T (p.Pro1001=) c.2724C>T (p.Pro908=) c.3090C>T (p.Pro1030=) c.2916C>T (p.Pro972=) c.3060C>T (p.Pro1020=) c.2973C>T (p.Pro991=) c.2781C>T (p.Pro927=) c.2556C>T (p.Pro852=) c.2238C>T (p.Pro746=) c.3147C>T (p.Pro1049=) | |
| 13 | g.101103226G>C | CA484553228 | NALCN | c.3003C>G (p.Pro1001=) c.2724C>G (p.Pro908=) c.3090C>G (p.Pro1030=) c.2916C>G (p.Pro972=) c.3060C>G (p.Pro1020=) c.2973C>G (p.Pro991=) c.2781C>G (p.Pro927=) c.2556C>G (p.Pro852=) c.2238C>G (p.Pro746=) c.3147C>G (p.Pro1049=) | |
| 13 | g.101103226G>T | CA484553226 | NALCN | c.3003C>A (p.Pro1001=) c.2724C>A (p.Pro908=) c.3090C>A (p.Pro1030=) c.2916C>A (p.Pro972=) c.3060C>A (p.Pro1020=) c.2973C>A (p.Pro991=) c.2781C>A (p.Pro927=) c.2556C>A (p.Pro852=) c.2238C>A (p.Pro746=) c.3147C>A (p.Pro1049=) | |
| 13 | g.101103227G>A | CA388669237 | NALCN | c.3002C>T (p.Pro1001Leu) c.2723C>T (p.Pro908Leu) c.3089C>T (p.Pro1030Leu) c.2915C>T (p.Pro972Leu) c.3059C>T (p.Pro1020Leu) c.2972C>T (p.Pro991Leu) c.2780C>T (p.Pro927Leu) c.2555C>T (p.Pro852Leu) c.2237C>T (p.Pro746Leu) c.3146C>T (p.Pro1049Leu) | |
| 13 | g.101103227G>C | CA388669238 | NALCN | c.3002C>G (p.Pro1001Arg) c.2723C>G (p.Pro908Arg) c.3089C>G (p.Pro1030Arg) c.2915C>G (p.Pro972Arg) c.3059C>G (p.Pro1020Arg) c.2972C>G (p.Pro991Arg) c.2780C>G (p.Pro927Arg) c.2555C>G (p.Pro852Arg) c.2237C>G (p.Pro746Arg) c.3146C>G (p.Pro1049Arg) | |
| 13 | g.101103227G>T | CA388669239 | NALCN | c.3002C>A (p.Pro1001His) c.2723C>A (p.Pro908His) c.3089C>A (p.Pro1030His) c.2915C>A (p.Pro972His) c.3059C>A (p.Pro1020His) c.2972C>A (p.Pro991His) c.2780C>A (p.Pro927His) c.2555C>A (p.Pro852His) c.2237C>A (p.Pro746His) c.3146C>A (p.Pro1049His) | |
| 13 | g.101103227_101103230delinsGGCA | CA2114398045 | NALCN | c.2999_3002delinsTGCC (p.Val1000=) c.2720_2723delinsTGCC (p.Val907=) c.3086_3089delinsTGCC (p.Val1029=) c.2912_2915delinsTGCC (p.Val971=) c.3056_3059delinsTGCC (p.Val1019=) c.2969_2972delinsTGCC (p.Val990=) c.2777_2780delinsTGCC (p.Val926=) c.2552_2555delinsTGCC (p.Val851=) c.2234_2237delinsTGCC (p.Val745=) c.3143_3146delinsTGCC (p.Val1048=) | |
| 13 | g.101103228G>A | CA388669240 | NALCN | c.3001C>T (p.Pro1001Ser) c.2722C>T (p.Pro908Ser) c.3088C>T (p.Pro1030Ser) c.2914C>T (p.Pro972Ser) c.3058C>T (p.Pro1020Ser) c.2971C>T (p.Pro991Ser) c.2779C>T (p.Pro927Ser) c.2554C>T (p.Pro852Ser) c.2236C>T (p.Pro746Ser) c.3145C>T (p.Pro1049Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101103228G>C | CA388669241 | NALCN | c.3001C>G (p.Pro1001Ala) c.2722C>G (p.Pro908Ala) c.3088C>G (p.Pro1030Ala) c.2914C>G (p.Pro972Ala) c.3058C>G (p.Pro1020Ala) c.2971C>G (p.Pro991Ala) c.2779C>G (p.Pro927Ala) c.2554C>G (p.Pro852Ala) c.2236C>G (p.Pro746Ala) c.3145C>G (p.Pro1049Ala) | |
| 13 | g.101103228G= | CA2114398046 | NALCN | c.3001C= (p.Pro1001=) c.2722C= (p.Pro908=) c.3088C= (p.Pro1030=) c.2914C= (p.Pro972=) c.3058C= (p.Pro1020=) c.2971C= (p.Pro991=) c.2779C= (p.Pro927=) c.2554C= (p.Pro852=) c.2236C= (p.Pro746=) c.3145C= (p.Pro1049=) | |
| 13 | g.101103228G>T | CA388669242 | NALCN | c.3001C>A (p.Pro1001Thr) c.2722C>A (p.Pro908Thr) c.3088C>A (p.Pro1030Thr) c.2914C>A (p.Pro972Thr) c.3058C>A (p.Pro1020Thr) c.2971C>A (p.Pro991Thr) c.2779C>A (p.Pro927Thr) c.2554C>A (p.Pro852Thr) c.2236C>A (p.Pro746Thr) c.3145C>A (p.Pro1049Thr) | |
| 13 | g.101103228_101103230del | CA255394490 | NALCN | c.2999_3001del (p.Val1000_Pro1001delinsAla) c.2720_2722del (p.Val907_Pro908delinsAla) c.3086_3088del (p.Val1029_Pro1030delinsAla) c.2912_2914del (p.Val971_Pro972delinsAla) c.3056_3058del (p.Val1019_Pro1020delinsAla) c.2969_2971del (p.Val990_Pro991delinsAla) c.2777_2779del (p.Val926_Pro927delinsAla) c.2552_2554del (p.Val851_Pro852delinsAla) c.2234_2236del (p.Val745_Pro746delinsAla) c.3143_3145del (p.Val1048_Pro1049delinsAla) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.101103229del | CA2623579542 | NALCN | c.3000del (p.Gln1002ArgfsTer2) c.2721del (p.Gln909ArgfsTer2) c.3087del (p.Gln1031ArgfsTer2) c.2913del (p.Gln973ArgfsTer2) c.3057del (p.Gln1021ArgfsTer2) c.2970del (p.Gln992ArgfsTer2) c.2778del (p.Gln928ArgfsTer2) c.2553del (p.Gln853ArgfsTer2) c.2235del (p.Gln747ArgfsTer2) c.3144del (p.Gln1050ArgfsTer2) | gnomAD v4 |
| 13 | g.101103229C>A | CA484553230 | NALCN | c.3000G>T (p.Val1000=) c.2721G>T (p.Val907=) c.3087G>T (p.Val1029=) c.2913G>T (p.Val971=) c.3057G>T (p.Val1019=) c.2970G>T (p.Val990=) c.2778G>T (p.Val926=) c.2553G>T (p.Val851=) c.2235G>T (p.Val745=) c.3144G>T (p.Val1048=) | |
| 13 | g.101103229C= | CA2114398047 | NALCN | c.3000G= (p.Val1000=) c.2721G= (p.Val907=) c.3087G= (p.Val1029=) c.2913G= (p.Val971=) c.3057G= (p.Val1019=) c.2970G= (p.Val990=) c.2778G= (p.Val926=) c.2553G= (p.Val851=) c.2235G= (p.Val745=) c.3144G= (p.Val1048=) | |
| 13 | g.101103229C>G | CA484553231 | NALCN | c.3000G>C (p.Val1000=) c.2721G>C (p.Val907=) c.3087G>C (p.Val1029=) c.2913G>C (p.Val971=) c.3057G>C (p.Val1019=) c.2970G>C (p.Val990=) c.2778G>C (p.Val926=) c.2553G>C (p.Val851=) c.2235G>C (p.Val745=) c.3144G>C (p.Val1048=) | |
| 13 | g.101103229C>T | CA7035525 | NALCN | c.3000G>A (p.Val1000=) c.2721G>A (p.Val907=) c.3087G>A (p.Val1029=) c.2913G>A (p.Val971=) c.3057G>A (p.Val1019=) c.2970G>A (p.Val990=) c.2778G>A (p.Val926=) c.2553G>A (p.Val851=) c.2235G>A (p.Val745=) c.3144G>A (p.Val1048=) | dbSNP ExAC gnomAD v2 gnomAD v4 |