WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165386974T>A | CA349036828 | SCN2A | c.4780T>A (p.Trp1594Arg) c.*3099T>A (n.*3099T>A) c.*2767T>A (n.*2767T>A) c.*5303T>A (n.*5303T>A) c.*2722T>A (n.*2722T>A) c.4384T>A (p.Trp1462Arg) n.8211T>A c.4750T>A (p.Trp1584Arg) c.4027T>A (p.Trp1343Arg) c.2578T>A (p.Trp860Arg) | |
| 2 | g.165386974T>C | CA16042354 | SCN2A | c.4780T>C (p.Trp1594Arg) c.*3099T>C (n.*3099T>C) c.*2767T>C (n.*2767T>C) c.*5303T>C (n.*5303T>C) c.*2722T>C (n.*2722T>C) c.4384T>C (p.Trp1462Arg) n.8211T>C c.4750T>C (p.Trp1584Arg) c.4027T>C (p.Trp1343Arg) c.2578T>C (p.Trp860Arg) | ClinVar dbSNP |
| 2 | g.165386974T>G | CA349036826 | SCN2A | c.4780T>G (p.Trp1594Gly) c.*3099T>G (n.*3099T>G) c.*2767T>G (n.*2767T>G) c.*5303T>G (n.*5303T>G) c.*2722T>G (n.*2722T>G) c.4384T>G (p.Trp1462Gly) n.8211T>G c.4750T>G (p.Trp1584Gly) c.4027T>G (p.Trp1343Gly) c.2578T>G (p.Trp860Gly) | |
| 2 | g.165386974T= | CA1304563823 | SCN2A | c.4780T= (p.Trp1594=) c.*3099T= (n.*3099T=) c.*2767T= (n.*2767T=) c.*5303T= (n.*5303T=) c.*2722T= (n.*2722T=) c.4384T= (p.Trp1462=) n.8211T= c.4750T= (p.Trp1584=) c.4027T= (p.Trp1343=) c.2578T= (p.Trp860=) | |
| 2 | g.165386975G>A | CA349036829 | SCN2A | c.4781G>A (p.Trp1594Ter) c.*3100G>A (n.*3100G>A) c.*2768G>A (n.*2768G>A) c.*5304G>A (n.*5304G>A) c.*2723G>A (n.*2723G>A) c.4385G>A (p.Trp1462Ter) n.8212G>A c.4751G>A (p.Trp1584Ter) c.4028G>A (p.Trp1343Ter) c.2579G>A (p.Trp860Ter) | dbSNP COSMIC COSMIC |
| 2 | g.165386975G>C | CA349036830 | SCN2A | c.4781G>C (p.Trp1594Ser) c.*3100G>C (n.*3100G>C) c.*2768G>C (n.*2768G>C) c.*5304G>C (n.*5304G>C) c.*2723G>C (n.*2723G>C) c.4385G>C (p.Trp1462Ser) n.8212G>C c.4751G>C (p.Trp1584Ser) c.4028G>C (p.Trp1343Ser) c.2579G>C (p.Trp860Ser) | |
| 2 | g.165386975G= | CA1304563824 | SCN2A | c.4781G= (p.Trp1594=) c.*3100G= (n.*3100G=) c.*2768G= (n.*2768G=) c.*5304G= (n.*5304G=) c.*2723G= (n.*2723G=) c.4385G= (p.Trp1462=) n.8212G= c.4751G= (p.Trp1584=) c.4028G= (p.Trp1343=) c.2579G= (p.Trp860=) | |
| 2 | g.165386975G>T | CA349036832 | SCN2A | c.4781G>T (p.Trp1594Leu) c.*3100G>T (n.*3100G>T) c.*2768G>T (n.*2768G>T) c.*5304G>T (n.*5304G>T) c.*2723G>T (n.*2723G>T) c.4385G>T (p.Trp1462Leu) n.8212G>T c.4751G>T (p.Trp1584Leu) c.4028G>T (p.Trp1343Leu) c.2579G>T (p.Trp860Leu) | |
| 2 | g.165386976G>A | CA349036834 | SCN2A | c.4782G>A (p.Trp1594Ter) c.*3101G>A (n.*3101G>A) c.*2769G>A (n.*2769G>A) c.*5305G>A (n.*5305G>A) c.*2724G>A (n.*2724G>A) c.4386G>A (p.Trp1462Ter) n.8213G>A c.4752G>A (p.Trp1584Ter) c.4029G>A (p.Trp1343Ter) c.2580G>A (p.Trp860Ter) | dbSNP COSMIC COSMIC |
| 2 | g.165386976G>C | CA16603919 | SCN2A | c.4782G>C (p.Trp1594Cys) c.*3101G>C (n.*3101G>C) c.*2769G>C (n.*2769G>C) c.*5305G>C (n.*5305G>C) c.*2724G>C (n.*2724G>C) c.4386G>C (p.Trp1462Cys) n.8213G>C c.4752G>C (p.Trp1584Cys) c.4029G>C (p.Trp1343Cys) c.2580G>C (p.Trp860Cys) | ClinVar dbSNP |
| 2 | g.165386976G= | CA1304563825 | SCN2A | c.4782G= (p.Trp1594=) c.*3101G= (n.*3101G=) c.*2769G= (n.*2769G=) c.*5305G= (n.*5305G=) c.*2724G= (n.*2724G=) c.4386G= (p.Trp1462=) n.8213G= c.4752G= (p.Trp1584=) c.4029G= (p.Trp1343=) c.2580G= (p.Trp860=) | |
| 2 | g.165386976G>T | CA349036836 | SCN2A | c.4782G>T (p.Trp1594Cys) c.*3101G>T (n.*3101G>T) c.*2769G>T (n.*2769G>T) c.*5305G>T (n.*5305G>T) c.*2724G>T (n.*2724G>T) c.4386G>T (p.Trp1462Cys) n.8213G>T c.4752G>T (p.Trp1584Cys) c.4029G>T (p.Trp1343Cys) c.2580G>T (p.Trp860Cys) | |
| 2 | g.165386977A>C | CA349036838 | SCN2A | c.4783A>C (p.Asn1595His) c.*3102A>C (n.*3102A>C) c.*2770A>C (n.*2770A>C) c.*5306A>C (n.*5306A>C) c.*2725A>C (n.*2725A>C) c.4387A>C (p.Asn1463His) n.8214A>C c.4753A>C (p.Asn1585His) c.4030A>C (p.Asn1344His) c.2581A>C (p.Asn861His) | |
| 2 | g.165386977A>G | CA349036839 | SCN2A | c.4783A>G (p.Asn1595Asp) c.*3102A>G (n.*3102A>G) c.*2770A>G (n.*2770A>G) c.*5306A>G (n.*5306A>G) c.*2725A>G (n.*2725A>G) c.4387A>G (p.Asn1463Asp) n.8214A>G c.4753A>G (p.Asn1585Asp) c.4030A>G (p.Asn1344Asp) c.2581A>G (p.Asn861Asp) | |
| 2 | g.165386977A>T | CA349036841 | SCN2A | c.4783A>T (p.Asn1595Tyr) c.*3102A>T (n.*3102A>T) c.*2770A>T (n.*2770A>T) c.*5306A>T (n.*5306A>T) c.*2725A>T (n.*2725A>T) c.4387A>T (p.Asn1463Tyr) n.8214A>T c.4753A>T (p.Asn1585Tyr) c.4030A>T (p.Asn1344Tyr) c.2581A>T (p.Asn861Tyr) | |
| 2 | g.165386978A>C | CA349036842 | SCN2A | c.4784A>C (p.Asn1595Thr) c.*3103A>C (n.*3103A>C) c.*2771A>C (n.*2771A>C) c.*5307A>C (n.*5307A>C) c.*2726A>C (n.*2726A>C) c.4388A>C (p.Asn1463Thr) n.8215A>C c.4754A>C (p.Asn1585Thr) c.4031A>C (p.Asn1344Thr) c.2582A>C (p.Asn861Thr) | |
| 2 | g.165386978A>G | CA349036844 | SCN2A | c.4784A>G (p.Asn1595Ser) c.*3103A>G (n.*3103A>G) c.*2771A>G (n.*2771A>G) c.*5307A>G (n.*5307A>G) c.*2726A>G (n.*2726A>G) c.4388A>G (p.Asn1463Ser) n.8215A>G c.4754A>G (p.Asn1585Ser) c.4031A>G (p.Asn1344Ser) c.2582A>G (p.Asn861Ser) | |
| 2 | g.165386978A>T | CA349036845 | SCN2A | c.4784A>T (p.Asn1595Ile) c.*3103A>T (n.*3103A>T) c.*2771A>T (n.*2771A>T) c.*5307A>T (n.*5307A>T) c.*2726A>T (n.*2726A>T) c.4388A>T (p.Asn1463Ile) n.8215A>T c.4754A>T (p.Asn1585Ile) c.4031A>T (p.Asn1344Ile) c.2582A>T (p.Asn861Ile) | |
| 2 | g.165386979T>A | CA349036847 | SCN2A | c.4785T>A (p.Asn1595Lys) c.*3104T>A (n.*3104T>A) c.*2772T>A (n.*2772T>A) c.*5308T>A (n.*5308T>A) c.*2727T>A (n.*2727T>A) c.4389T>A (p.Asn1463Lys) n.8216T>A c.4755T>A (p.Asn1585Lys) c.4032T>A (p.Asn1344Lys) c.2583T>A (p.Asn861Lys) | |
| 2 | g.165386979T>C | CA429972497 | SCN2A | c.4785T>C (p.Asn1595=) c.*3104T>C (n.*3104T>C) c.*2772T>C (n.*2772T>C) c.*5308T>C (n.*5308T>C) c.*2727T>C (n.*2727T>C) c.4389T>C (p.Asn1463=) n.8216T>C c.4755T>C (p.Asn1585=) c.4032T>C (p.Asn1344=) c.2583T>C (p.Asn861=) | |
| 2 | g.165386979T>G | CA349036849 | SCN2A | c.4785T>G (p.Asn1595Lys) c.*3104T>G (n.*3104T>G) c.*2772T>G (n.*2772T>G) c.*5308T>G (n.*5308T>G) c.*2727T>G (n.*2727T>G) c.4389T>G (p.Asn1463Lys) n.8216T>G c.4755T>G (p.Asn1585Lys) c.4032T>G (p.Asn1344Lys) c.2583T>G (p.Asn861Lys) | |
| 2 | g.165386980A>C | CA349036850 | SCN2A | c.4786A>C (p.Ile1596Leu) c.*3105A>C (n.*3105A>C) c.*2773A>C (n.*2773A>C) c.*5309A>C (n.*5309A>C) c.*2728A>C (n.*2728A>C) c.4390A>C (p.Ile1464Leu) n.8217A>C c.4756A>C (p.Ile1586Leu) c.4033A>C (p.Ile1345Leu) c.2584A>C (p.Ile862Leu) | |
| 2 | g.165386980A>G | CA349036852 | SCN2A | c.4786A>G (p.Ile1596Val) c.*3105A>G (n.*3105A>G) c.*2773A>G (n.*2773A>G) c.*5309A>G (n.*5309A>G) c.*2728A>G (n.*2728A>G) c.4390A>G (p.Ile1464Val) n.8217A>G c.4756A>G (p.Ile1586Val) c.4033A>G (p.Ile1345Val) c.2584A>G (p.Ile862Val) | |
| 2 | g.165386980A>T | CA349036853 | SCN2A | c.4786A>T (p.Ile1596Phe) c.*3105A>T (n.*3105A>T) c.*2773A>T (n.*2773A>T) c.*5309A>T (n.*5309A>T) c.*2728A>T (n.*2728A>T) c.4390A>T (p.Ile1464Phe) n.8217A>T c.4756A>T (p.Ile1586Phe) c.4033A>T (p.Ile1345Phe) c.2584A>T (p.Ile862Phe) | |
| 2 | g.165386981T>A | CA349036855 | SCN2A | c.4787T>A (p.Ile1596Asn) c.*3106T>A (n.*3106T>A) c.*2774T>A (n.*2774T>A) c.*5310T>A (n.*5310T>A) c.*2729T>A (n.*2729T>A) c.4391T>A (p.Ile1464Asn) n.8218T>A c.4757T>A (p.Ile1586Asn) c.4034T>A (p.Ile1345Asn) c.2585T>A (p.Ile862Asn) | |
| 2 | g.165386981T>C | CA349036857 | SCN2A | c.4787T>C (p.Ile1596Thr) c.*3106T>C (n.*3106T>C) c.*2774T>C (n.*2774T>C) c.*5310T>C (n.*5310T>C) c.*2729T>C (n.*2729T>C) c.4391T>C (p.Ile1464Thr) n.8218T>C c.4757T>C (p.Ile1586Thr) c.4034T>C (p.Ile1345Thr) c.2585T>C (p.Ile862Thr) | |
| 2 | g.165386981T>G | CA349036859 | SCN2A | c.4787T>G (p.Ile1596Ser) c.*3106T>G (n.*3106T>G) c.*2774T>G (n.*2774T>G) c.*5310T>G (n.*5310T>G) c.*2729T>G (n.*2729T>G) c.4391T>G (p.Ile1464Ser) n.8218T>G c.4757T>G (p.Ile1586Ser) c.4034T>G (p.Ile1345Ser) c.2585T>G (p.Ile862Ser) | ClinVar dbSNP |
| 2 | g.165386982T>A | CA429972501 | SCN2A | c.4788T>A (p.Ile1596=) c.*3107T>A (n.*3107T>A) c.*2775T>A (n.*2775T>A) c.*5311T>A (n.*5311T>A) c.*2730T>A (n.*2730T>A) c.4392T>A (p.Ile1464=) n.8219T>A c.4758T>A (p.Ile1586=) c.4035T>A (p.Ile1345=) c.2586T>A (p.Ile862=) | |
| 2 | g.165386982T>C | CA429972499 | SCN2A | c.4788T>C (p.Ile1596=) c.*3107T>C (n.*3107T>C) c.*2775T>C (n.*2775T>C) c.*5311T>C (n.*5311T>C) c.*2730T>C (n.*2730T>C) c.4392T>C (p.Ile1464=) n.8219T>C c.4758T>C (p.Ile1586=) c.4035T>C (p.Ile1345=) c.2586T>C (p.Ile862=) | |
| 2 | g.165386982T>G | CA349036860 | SCN2A | c.4788T>G (p.Ile1596Met) c.*3107T>G (n.*3107T>G) c.*2775T>G (n.*2775T>G) c.*5311T>G (n.*5311T>G) c.*2730T>G (n.*2730T>G) c.4392T>G (p.Ile1464Met) n.8219T>G c.4758T>G (p.Ile1586Met) c.4035T>G (p.Ile1345Met) c.2586T>G (p.Ile862Met) | |
| 2 | g.165386983T>A | CA349036862 | SCN2A | c.4789T>A (p.Phe1597Ile) c.*3108T>A (n.*3108T>A) c.*2776T>A (n.*2776T>A) c.*5312T>A (n.*5312T>A) c.*2731T>A (n.*2731T>A) c.4393T>A (p.Phe1465Ile) n.8220T>A c.4759T>A (p.Phe1587Ile) c.4036T>A (p.Phe1346Ile) c.2587T>A (p.Phe863Ile) | |
| 2 | g.165386983T>C | CA349036863 | SCN2A | c.4789T>C (p.Phe1597Leu) c.*3108T>C (n.*3108T>C) c.*2776T>C (n.*2776T>C) c.*5312T>C (n.*5312T>C) c.*2731T>C (n.*2731T>C) c.4393T>C (p.Phe1465Leu) n.8220T>C c.4759T>C (p.Phe1587Leu) c.4036T>C (p.Phe1346Leu) c.2587T>C (p.Phe863Leu) | ClinVar |
| 2 | g.165386983T>G | CA349036865 | SCN2A | c.4789T>G (p.Phe1597Val) c.*3108T>G (n.*3108T>G) c.*2776T>G (n.*2776T>G) c.*5312T>G (n.*5312T>G) c.*2731T>G (n.*2731T>G) c.4393T>G (p.Phe1465Val) n.8220T>G c.4759T>G (p.Phe1587Val) c.4036T>G (p.Phe1346Val) c.2587T>G (p.Phe863Val) | |
| 2 | g.165386984T>A | CA349036866 | SCN2A | c.4790T>A (p.Phe1597Tyr) c.*3109T>A (n.*3109T>A) c.*2777T>A (n.*2777T>A) c.*5313T>A (n.*5313T>A) c.*2732T>A (n.*2732T>A) c.4394T>A (p.Phe1465Tyr) n.8221T>A c.4760T>A (p.Phe1587Tyr) c.4037T>A (p.Phe1346Tyr) c.2588T>A (p.Phe863Tyr) | |
| 2 | g.165386984T>C | CA349036869 | SCN2A | c.4790T>C (p.Phe1597Ser) c.*3109T>C (n.*3109T>C) c.*2777T>C (n.*2777T>C) c.*5313T>C (n.*5313T>C) c.*2732T>C (n.*2732T>C) c.4394T>C (p.Phe1465Ser) n.8221T>C c.4760T>C (p.Phe1587Ser) c.4037T>C (p.Phe1346Ser) c.2588T>C (p.Phe863Ser) | |
| 2 | g.165386984T>G | CA349036871 | SCN2A | c.4790T>G (p.Phe1597Cys) c.*3109T>G (n.*3109T>G) c.*2777T>G (n.*2777T>G) c.*5313T>G (n.*5313T>G) c.*2732T>G (n.*2732T>G) c.4394T>G (p.Phe1465Cys) n.8221T>G c.4760T>G (p.Phe1587Cys) c.4037T>G (p.Phe1346Cys) c.2588T>G (p.Phe863Cys) | |
| 2 | g.165386985T>A | CA349036873 | SCN2A | c.4791T>A (p.Phe1597Leu) c.*3110T>A (n.*3110T>A) c.*2778T>A (n.*2778T>A) c.*5314T>A (n.*5314T>A) c.*2733T>A (n.*2733T>A) c.4395T>A (p.Phe1465Leu) n.8222T>A c.4761T>A (p.Phe1587Leu) c.4038T>A (p.Phe1346Leu) c.2589T>A (p.Phe863Leu) | ClinVar |
| 2 | g.165386985T>C | CA429972505 | SCN2A | c.4791T>C (p.Phe1597=) c.*3110T>C (n.*3110T>C) c.*2778T>C (n.*2778T>C) c.*5314T>C (n.*5314T>C) c.*2733T>C (n.*2733T>C) c.4395T>C (p.Phe1465=) n.8222T>C c.4761T>C (p.Phe1587=) c.4038T>C (p.Phe1346=) c.2589T>C (p.Phe863=) | |
| 2 | g.165386985T>G | CA349036874 | SCN2A | c.4791T>G (p.Phe1597Leu) c.*3110T>G (n.*3110T>G) c.*2778T>G (n.*2778T>G) c.*5314T>G (n.*5314T>G) c.*2733T>G (n.*2733T>G) c.4395T>G (p.Phe1465Leu) n.8222T>G c.4761T>G (p.Phe1587Leu) c.4038T>G (p.Phe1346Leu) c.2589T>G (p.Phe863Leu) | |
| 2 | g.165386986G>A | CA349036876 | SCN2A | c.4792G>A (p.Asp1598Asn) c.*3111G>A (n.*3111G>A) c.*2779G>A (n.*2779G>A) c.*5315G>A (n.*5315G>A) c.*2734G>A (n.*2734G>A) c.4396G>A (p.Asp1466Asn) n.8223G>A c.4762G>A (p.Asp1588Asn) c.4039G>A (p.Asp1347Asn) c.2590G>A (p.Asp864Asn) | COSMIC COSMIC |
| 2 | g.165386986G>C | CA349036878 | SCN2A | c.4792G>C (p.Asp1598His) c.*3111G>C (n.*3111G>C) c.*2779G>C (n.*2779G>C) c.*5315G>C (n.*5315G>C) c.*2734G>C (n.*2734G>C) c.4396G>C (p.Asp1466His) n.8223G>C c.4762G>C (p.Asp1588His) c.4039G>C (p.Asp1347His) c.2590G>C (p.Asp864His) | |
| 2 | g.165386986G>T | CA349036879 | SCN2A | c.4792G>T (p.Asp1598Tyr) c.*3111G>T (n.*3111G>T) c.*2779G>T (n.*2779G>T) c.*5315G>T (n.*5315G>T) c.*2734G>T (n.*2734G>T) c.4396G>T (p.Asp1466Tyr) n.8223G>T c.4762G>T (p.Asp1588Tyr) c.4039G>T (p.Asp1347Tyr) c.2590G>T (p.Asp864Tyr) | ClinVar dbSNP |
| 2 | g.165386987A>C | CA349036880 | SCN2A | c.4793A>C (p.Asp1598Ala) c.*3112A>C (n.*3112A>C) c.*2780A>C (n.*2780A>C) c.*5316A>C (n.*5316A>C) c.*2735A>C (n.*2735A>C) c.4397A>C (p.Asp1466Ala) n.8224A>C c.4763A>C (p.Asp1588Ala) c.4040A>C (p.Asp1347Ala) c.2591A>C (p.Asp864Ala) | |
| 2 | g.165386987A>G | CA349036882 | SCN2A | c.4793A>G (p.Asp1598Gly) c.*3112A>G (n.*3112A>G) c.*2780A>G (n.*2780A>G) c.*5316A>G (n.*5316A>G) c.*2735A>G (n.*2735A>G) c.4397A>G (p.Asp1466Gly) n.8224A>G c.4763A>G (p.Asp1588Gly) c.4040A>G (p.Asp1347Gly) c.2591A>G (p.Asp864Gly) | |
| 2 | g.165386987A>T | CA349036884 | SCN2A | c.4793A>T (p.Asp1598Val) c.*3112A>T (n.*3112A>T) c.*2780A>T (n.*2780A>T) c.*5316A>T (n.*5316A>T) c.*2735A>T (n.*2735A>T) c.4397A>T (p.Asp1466Val) n.8224A>T c.4763A>T (p.Asp1588Val) c.4040A>T (p.Asp1347Val) c.2591A>T (p.Asp864Val) | |
| 2 | g.165386988T>A | CA349036885 | SCN2A | c.4794T>A (p.Asp1598Glu) c.*3113T>A (n.*3113T>A) c.*2781T>A (n.*2781T>A) c.*5317T>A (n.*5317T>A) c.*2736T>A (n.*2736T>A) c.4398T>A (p.Asp1466Glu) n.8225T>A c.4764T>A (p.Asp1588Glu) c.4041T>A (p.Asp1347Glu) c.2592T>A (p.Asp864Glu) | |
| 2 | g.165386988T>C | CA429972507 | SCN2A | c.4794T>C (p.Asp1598=) c.*3113T>C (n.*3113T>C) c.*2781T>C (n.*2781T>C) c.*5317T>C (n.*5317T>C) c.*2736T>C (n.*2736T>C) c.4398T>C (p.Asp1466=) n.8225T>C c.4764T>C (p.Asp1588=) c.4041T>C (p.Asp1347=) c.2592T>C (p.Asp864=) | |
| 2 | g.165386988T>G | CA349036887 | SCN2A | c.4794T>G (p.Asp1598Glu) c.*3113T>G (n.*3113T>G) c.*2781T>G (n.*2781T>G) c.*5317T>G (n.*5317T>G) c.*2736T>G (n.*2736T>G) c.4398T>G (p.Asp1466Glu) n.8225T>G c.4764T>G (p.Asp1588Glu) c.4041T>G (p.Asp1347Glu) c.2592T>G (p.Asp864Glu) | |
| 2 | g.165386990_165386991del | CA2586970193 | SCN2A | c.4796_4797del (p.Phe1599CysfsTer14) c.*3115_*3116del (n.*3115_*3116del) c.*2783_*2784del (n.*2783_*2784del) c.*5319_*5320del (n.*5319_*5320del) c.*2738_*2739del (n.*2738_*2739del) c.4400_4401del (p.Phe1467CysfsTer14) n.8227_8228del c.4766_4767del (p.Phe1589CysfsTer14) c.4043_4044del (p.Phe1348CysfsTer14) c.2594_2595del (p.Phe865CysfsTer14) | |
| 2 | g.165386989T>A | CA349036889 | SCN2A | c.4795T>A (p.Phe1599Ile) c.*3114T>A (n.*3114T>A) c.*2782T>A (n.*2782T>A) c.*5318T>A (n.*5318T>A) c.*2737T>A (n.*2737T>A) c.4399T>A (p.Phe1467Ile) n.8226T>A c.4765T>A (p.Phe1589Ile) c.4042T>A (p.Phe1348Ile) c.2593T>A (p.Phe865Ile) | gnomAD v4 |