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 |
|---|---|---|---|---|---|
| 17 | g.31349634_31357324del | CA277574 | NF1 | c.7303+383_7907del c.1885+383_2489del c.1477+383_2081del n.3966+383_4570del c.371+383_975del c.7351+383_7955del c.7321+383_7925del c.7258+383_7862del c.6256+383_6860del c.704+383_1308del c.7457+383_8061del c.464+383_910del c.7312+383_7916del c.7288+383_7892del c.7348+383_7952del c.7351+383_7832del | ClinVar |
| 17 | g.31351657_31353149del | CA277599 | NF1 | c.7440-600_7597+735del c.2022-600_2179+735del c.1614-600_1771+735del n.4103-600_4260+735del c.508-600_665+735del c.7488-600_7645+735del c.7458-600_7615+735del c.7395-600_7552+735del c.6393-600_6550+735del c.841-600_998+735del c.7594-600_7751+735del c.600+1339_600+2831del c.7449-600_7606+735del c.7425-600_7582+735del c.7485-600_7642+735del | ClinVar |
| 17 | g.31352304_31352307dup | CA915949859 | NF1 | c.7487_7490dup (p.Tyr2497Ter) c.2069_2072dup (p.Tyr691Ter) c.1661_1664dup (p.Tyr555Ter) n.4150_4153dup c.555_558dup c.7535_7538dup (p.Tyr2513Ter) c.7505_7508dup (p.Tyr2503Ter) c.7442_7445dup (p.Tyr2482Ter) c.6440_6443dup (p.Tyr2148Ter) c.888_891dup c.7641_7644dup (n.7641_7644dup) c.600+1986_600+1989dup c.7496_7499dup (p.Tyr2500Ter) c.7472_7475dup (p.Tyr2492Ter) c.7532_7535dup (p.Tyr2512Ter) | ClinVar dbSNP |
| 17 | g.31352306T>A | CA399017533 | NF1 | c.7489T>A (p.Tyr2497Asn) c.2071T>A (p.Tyr691Asn) c.1663T>A (p.Tyr555Asn) n.4152T>A c.557T>A c.7537T>A (p.Tyr2513Asn) c.7507T>A (p.Tyr2503Asn) c.7444T>A (p.Tyr2482Asn) c.6442T>A (p.Tyr2148Asn) c.890T>A c.7643T>A (n.7643T>A) c.600+1988T>A c.7498T>A (p.Tyr2500Asn) c.7474T>A (p.Tyr2492Asn) c.7534T>A (p.Tyr2512Asn) | |
| 17 | g.31352306T>C | CA399017534 | NF1 | c.7489T>C (p.Tyr2497His) c.2071T>C (p.Tyr691His) c.1663T>C (p.Tyr555His) n.4152T>C c.557T>C c.7537T>C (p.Tyr2513His) c.7507T>C (p.Tyr2503His) c.7444T>C (p.Tyr2482His) c.6442T>C (p.Tyr2148His) c.890T>C c.7643T>C (n.7643T>C) c.600+1988T>C c.7498T>C (p.Tyr2500His) c.7474T>C (p.Tyr2492His) c.7534T>C (p.Tyr2512His) | gnomAD v4 |
| 17 | g.31352306T>G | CA399017535 | NF1 | c.7489T>G (p.Tyr2497Asp) c.2071T>G (p.Tyr691Asp) c.1663T>G (p.Tyr555Asp) n.4152T>G c.557T>G c.7537T>G (p.Tyr2513Asp) c.7507T>G (p.Tyr2503Asp) c.7444T>G (p.Tyr2482Asp) c.6442T>G (p.Tyr2148Asp) c.890T>G c.7643T>G (n.7643T>G) c.600+1988T>G c.7498T>G (p.Tyr2500Asp) c.7474T>G (p.Tyr2492Asp) c.7534T>G (p.Tyr2512Asp) | |
| 17 | g.31352307_31352310del | CA2695225507 | NF1 | c.7490_7493del (p.Tyr2497LeufsTer19) c.2072_2075del (p.Tyr691LeufsTer19) c.1664_1667del (p.Tyr555LeufsTer19) n.4153_4156del c.558_561del c.7538_7541del (p.Tyr2513LeufsTer19) c.7508_7511del (p.Tyr2503LeufsTer19) c.7445_7448del (p.Tyr2482LeufsTer19) c.6443_6446del (p.Tyr2148LeufsTer19) c.891_894del c.7644_7647del (n.7644_7647del) c.600+1989_600+1992del c.7499_7502del (p.Tyr2500LeufsTer19) c.7475_7478del (p.Tyr2492LeufsTer19) c.7535_7538del (p.Tyr2512LeufsTer19) | |
| 17 | g.31352307del | CA2697559613 | NF1 | c.7490del (p.Tyr2497SerfsTer20) c.2072del (p.Tyr691SerfsTer20) c.1664del (p.Tyr555SerfsTer20) n.4153del c.558del c.7538del (p.Tyr2513SerfsTer20) c.7508del (p.Tyr2503SerfsTer20) c.7445del (p.Tyr2482SerfsTer20) c.6443del (p.Tyr2148SerfsTer20) c.891del c.7644del (n.7644del) c.600+1989del c.7499del (p.Tyr2500SerfsTer20) c.7475del (p.Tyr2492SerfsTer20) c.7535del (p.Tyr2512SerfsTer20) | ClinVar |
| 17 | g.31352307A= | CA2255609945 | NF1 | c.7490A= (p.Tyr2497=) c.2072A= (p.Tyr691=) c.1664A= (p.Tyr555=) n.4153A= c.558A= c.7538A= (p.Tyr2513=) c.7508A= (p.Tyr2503=) c.7445A= (p.Tyr2482=) c.6443A= (p.Tyr2148=) c.891A= c.7644A= (n.7644A=) c.600+1989A= c.7499A= (p.Tyr2500=) c.7475A= (p.Tyr2492=) c.7535A= (p.Tyr2512=) | |
| 17 | g.31352307A>C | CA399017536 | NF1 | c.7490A>C (p.Tyr2497Ser) c.2072A>C (p.Tyr691Ser) c.1664A>C (p.Tyr555Ser) n.4153A>C c.558A>C c.7538A>C (p.Tyr2513Ser) c.7508A>C (p.Tyr2503Ser) c.7445A>C (p.Tyr2482Ser) c.6443A>C (p.Tyr2148Ser) c.891A>C c.7644A>C (n.7644A>C) c.600+1989A>C c.7499A>C (p.Tyr2500Ser) c.7475A>C (p.Tyr2492Ser) c.7535A>C (p.Tyr2512Ser) | dbSNP |
| 17 | g.31352307A>G | CA8487602 | NF1 | c.7490A>G (p.Tyr2497Cys) c.2072A>G (p.Tyr691Cys) c.1664A>G (p.Tyr555Cys) n.4153A>G c.558A>G c.7538A>G (p.Tyr2513Cys) c.7508A>G (p.Tyr2503Cys) c.7445A>G (p.Tyr2482Cys) c.6443A>G (p.Tyr2148Cys) c.891A>G c.7644A>G (n.7644A>G) c.600+1989A>G c.7499A>G (p.Tyr2500Cys) c.7475A>G (p.Tyr2492Cys) c.7535A>G (p.Tyr2512Cys) | dbSNP ExAC gnomAD v2 |
| 17 | g.31352307A>T | CA399017537 | NF1 | c.7490A>T (p.Tyr2497Phe) c.2072A>T (p.Tyr691Phe) c.1664A>T (p.Tyr555Phe) n.4153A>T c.558A>T c.7538A>T (p.Tyr2513Phe) c.7508A>T (p.Tyr2503Phe) c.7445A>T (p.Tyr2482Phe) c.6443A>T (p.Tyr2148Phe) c.891A>T c.7644A>T (n.7644A>T) c.600+1989A>T c.7499A>T (p.Tyr2500Phe) c.7475A>T (p.Tyr2492Phe) c.7535A>T (p.Tyr2512Phe) | dbSNP |
| 17 | g.31352308C>A | CA399017538 | NF1 | c.7491C>A (p.Tyr2497Ter) c.2073C>A (p.Tyr691Ter) c.1665C>A (p.Tyr555Ter) n.4154C>A c.559C>A c.7539C>A (p.Tyr2513Ter) c.7509C>A (p.Tyr2503Ter) c.7446C>A (p.Tyr2482Ter) c.6444C>A (p.Tyr2148Ter) c.892C>A c.7645C>A (n.7645C>A) c.600+1990C>A c.7500C>A (p.Tyr2500Ter) c.7476C>A (p.Tyr2492Ter) c.7536C>A (p.Tyr2512Ter) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31352308C= | CA2255609947 | NF1 | c.7491C= (p.Tyr2497=) c.2073C= (p.Tyr691=) c.1665C= (p.Tyr555=) n.4154C= c.559C= c.7539C= (p.Tyr2513=) c.7509C= (p.Tyr2503=) c.7446C= (p.Tyr2482=) c.6444C= (p.Tyr2148=) c.892C= c.7645C= (n.7645C=) c.600+1990C= c.7500C= (p.Tyr2500=) c.7476C= (p.Tyr2492=) c.7536C= (p.Tyr2512=) | |
| 17 | g.31352308C>G | CA399017539 | NF1 | c.7491C>G (p.Tyr2497Ter) c.2073C>G (p.Tyr691Ter) c.1665C>G (p.Tyr555Ter) n.4154C>G c.559C>G c.7539C>G (p.Tyr2513Ter) c.7509C>G (p.Tyr2503Ter) c.7446C>G (p.Tyr2482Ter) c.6444C>G (p.Tyr2148Ter) c.892C>G c.7645C>G (n.7645C>G) c.600+1990C>G c.7500C>G (p.Tyr2500Ter) c.7476C>G (p.Tyr2492Ter) c.7536C>G (p.Tyr2512Ter) | ClinVar dbSNP |
| 17 | g.31352308C>T | CA499239258 | NF1 | c.7491C>T (p.Tyr2497=) c.2073C>T (p.Tyr691=) c.1665C>T (p.Tyr555=) n.4154C>T c.559C>T c.7539C>T (p.Tyr2513=) c.7509C>T (p.Tyr2503=) c.7446C>T (p.Tyr2482=) c.6444C>T (p.Tyr2148=) c.892C>T c.7645C>T (n.7645C>T) c.600+1990C>T c.7500C>T (p.Tyr2500=) c.7476C>T (p.Tyr2492=) c.7536C>T (p.Tyr2512=) | ClinVar dbSNP |
| 17 | g.31352309C>A | CA399017540 | NF1 | c.7492C>A (p.Leu2498Ile) c.2074C>A (p.Leu692Ile) c.1666C>A (p.Leu556Ile) n.4155C>A c.560C>A c.7540C>A (p.Leu2514Ile) c.7510C>A (p.Leu2504Ile) c.7447C>A (p.Leu2483Ile) c.6445C>A (p.Leu2149Ile) c.893C>A c.7646C>A (n.7646C>A) c.600+1991C>A c.7501C>A (p.Leu2501Ile) c.7477C>A (p.Leu2493Ile) c.7537C>A (p.Leu2513Ile) | ClinVar dbSNP |
| 17 | g.31352309C= | CA2255609956 | NF1 | c.7492C= (p.Leu2498=) c.2074C= (p.Leu692=) c.1666C= (p.Leu556=) n.4155C= c.560C= c.7540C= (p.Leu2514=) c.7510C= (p.Leu2504=) c.7447C= (p.Leu2483=) c.6445C= (p.Leu2149=) c.893C= c.7646C= (n.7646C=) c.600+1991C= c.7501C= (p.Leu2501=) c.7477C= (p.Leu2493=) c.7537C= (p.Leu2513=) | |
| 17 | g.31352309C>G | CA10580412 | NF1 | c.7492C>G (p.Leu2498Val) c.2074C>G (p.Leu692Val) c.1666C>G (p.Leu556Val) n.4155C>G c.560C>G c.7540C>G (p.Leu2514Val) c.7510C>G (p.Leu2504Val) c.7447C>G (p.Leu2483Val) c.6445C>G (p.Leu2149Val) c.893C>G c.7646C>G (n.7646C>G) c.600+1991C>G c.7501C>G (p.Leu2501Val) c.7477C>G (p.Leu2493Val) c.7537C>G (p.Leu2513Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.31352309C>T | CA399017541 | NF1 | c.7492C>T (p.Leu2498Phe) c.2074C>T (p.Leu692Phe) c.1666C>T (p.Leu556Phe) n.4155C>T c.560C>T c.7540C>T (p.Leu2514Phe) c.7510C>T (p.Leu2504Phe) c.7447C>T (p.Leu2483Phe) c.6445C>T (p.Leu2149Phe) c.893C>T c.7646C>T (n.7646C>T) c.600+1991C>T c.7501C>T (p.Leu2501Phe) c.7477C>T (p.Leu2493Phe) c.7537C>T (p.Leu2513Phe) | ClinVar dbSNP |
| 17 | g.31352310T>A | CA399017544 | NF1 | c.7493T>A (p.Leu2498His) c.2075T>A (p.Leu692His) c.1667T>A (p.Leu556His) n.4156T>A c.561T>A c.7541T>A (p.Leu2514His) c.7511T>A (p.Leu2504His) c.7448T>A (p.Leu2483His) c.6446T>A (p.Leu2149His) c.894T>A c.7647T>A (n.7647T>A) c.600+1992T>A c.7502T>A (p.Leu2501His) c.7478T>A (p.Leu2493His) c.7538T>A (p.Leu2513His) | dbSNP |
| 17 | g.31352310T>C | CA399017543 | NF1 | c.7493T>C (p.Leu2498Pro) c.2075T>C (p.Leu692Pro) c.1667T>C (p.Leu556Pro) n.4156T>C c.561T>C c.7541T>C (p.Leu2514Pro) c.7511T>C (p.Leu2504Pro) c.7448T>C (p.Leu2483Pro) c.6446T>C (p.Leu2149Pro) c.894T>C c.7647T>C (n.7647T>C) c.600+1992T>C c.7502T>C (p.Leu2501Pro) c.7478T>C (p.Leu2493Pro) c.7538T>C (p.Leu2513Pro) | ClinVar dbSNP |
| 17 | g.31352310T>G | CA399017542 | NF1 | c.7493T>G (p.Leu2498Arg) c.2075T>G (p.Leu692Arg) c.1667T>G (p.Leu556Arg) n.4156T>G c.561T>G c.7541T>G (p.Leu2514Arg) c.7511T>G (p.Leu2504Arg) c.7448T>G (p.Leu2483Arg) c.6446T>G (p.Leu2149Arg) c.894T>G c.7647T>G (n.7647T>G) c.600+1992T>G c.7502T>G (p.Leu2501Arg) c.7478T>G (p.Leu2493Arg) c.7538T>G (p.Leu2513Arg) | |
| 17 | g.31352311del | CA499239259 | NF1 | c.7494del (p.Ala2499GlnfsTer18) c.2076del (p.Ala693GlnfsTer18) c.1668del (p.Ala557GlnfsTer18) n.4157del c.562del c.7542del (p.Ala2515GlnfsTer18) c.7512del (p.Ala2505GlnfsTer18) c.7449del (p.Ala2484GlnfsTer18) c.6447del (p.Ala2150GlnfsTer18) c.895del c.7648del (n.7648del) c.600+1993del c.7503del (p.Ala2502GlnfsTer18) c.7479del (p.Ala2494GlnfsTer18) c.7539del (p.Ala2514GlnfsTer18) | COSMIC |
| 17 | g.31352311T>A | CA499239262 | NF1 | c.7494T>A (p.Leu2498=) c.2076T>A (p.Leu692=) c.1668T>A (p.Leu556=) n.4157T>A c.562T>A c.7542T>A (p.Leu2514=) c.7512T>A (p.Leu2504=) c.7449T>A (p.Leu2483=) c.6447T>A (p.Leu2149=) c.895T>A c.7648T>A (n.7648T>A) c.600+1993T>A c.7503T>A (p.Leu2501=) c.7479T>A (p.Leu2493=) c.7539T>A (p.Leu2513=) | ClinVar dbSNP |
| 17 | g.31352311T>C | CA499239260 | NF1 | c.7494T>C (p.Leu2498=) c.2076T>C (p.Leu692=) c.1668T>C (p.Leu556=) n.4157T>C c.562T>C c.7542T>C (p.Leu2514=) c.7512T>C (p.Leu2504=) c.7449T>C (p.Leu2483=) c.6447T>C (p.Leu2149=) c.895T>C c.7648T>C (n.7648T>C) c.600+1993T>C c.7503T>C (p.Leu2501=) c.7479T>C (p.Leu2493=) c.7539T>C (p.Leu2513=) | dbSNP |
| 17 | g.31352311T>G | CA499239261 | NF1 | c.7494T>G (p.Leu2498=) c.2076T>G (p.Leu692=) c.1668T>G (p.Leu556=) n.4157T>G c.562T>G c.7542T>G (p.Leu2514=) c.7512T>G (p.Leu2504=) c.7449T>G (p.Leu2483=) c.6447T>G (p.Leu2149=) c.895T>G c.7648T>G (n.7648T>G) c.600+1993T>G c.7503T>G (p.Leu2501=) c.7479T>G (p.Leu2493=) c.7539T>G (p.Leu2513=) | |
| 17 | g.31352311T= | CA2255609966 | NF1 | c.7494T= (p.Leu2498=) c.2076T= (p.Leu692=) c.1668T= (p.Leu556=) n.4157T= c.562T= c.7542T= (p.Leu2514=) c.7512T= (p.Leu2504=) c.7449T= (p.Leu2483=) c.6447T= (p.Leu2149=) c.895T= c.7648T= (n.7648T=) c.600+1993T= c.7503T= (p.Leu2501=) c.7479T= (p.Leu2493=) c.7539T= (p.Leu2513=) | |
| 17 | g.31352312_31352321del | CA645572271 | NF1 | c.7495_7504del (p.Ala2499IlefsTer15) c.2077_2086del (p.Ala693IlefsTer15) c.1669_1678del (p.Ala557IlefsTer15) n.4158_4167del c.563_572del c.7543_7552del (p.Ala2515IlefsTer15) c.7513_7522del (p.Ala2505IlefsTer15) c.7450_7459del (p.Ala2484IlefsTer15) c.6448_6457del (p.Ala2150IlefsTer15) c.896_905del c.7649_7658del (n.7649_7658del) c.600+1994_600+2003del c.7504_7513del (p.Ala2502IlefsTer15) c.7480_7489del (p.Ala2494IlefsTer15) c.7540_7549del (p.Ala2514IlefsTer15) | COSMIC |
| 17 | g.31352312G>A | CA399017545 | NF1 | c.7495G>A (p.Ala2499Thr) c.2077G>A (p.Ala693Thr) c.1669G>A (p.Ala557Thr) n.4158G>A c.563G>A c.7543G>A (p.Ala2515Thr) c.7513G>A (p.Ala2505Thr) c.7450G>A (p.Ala2484Thr) c.6448G>A (p.Ala2150Thr) c.896G>A c.7649G>A (n.7649G>A) c.600+1994G>A c.7504G>A (p.Ala2502Thr) c.7480G>A (p.Ala2494Thr) c.7540G>A (p.Ala2514Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.31352312G>C | CA194823 | NF1 | c.7495G>C (p.Ala2499Pro) c.2077G>C (p.Ala693Pro) c.1669G>C (p.Ala557Pro) n.4158G>C c.563G>C c.7543G>C (p.Ala2515Pro) c.7513G>C (p.Ala2505Pro) c.7450G>C (p.Ala2484Pro) c.6448G>C (p.Ala2150Pro) c.896G>C c.7649G>C (n.7649G>C) c.600+1994G>C c.7504G>C (p.Ala2502Pro) c.7480G>C (p.Ala2494Pro) c.7540G>C (p.Ala2514Pro) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31352312G= | CA2255609975 | NF1 | c.7495G= (p.Ala2499=) c.2077G= (p.Ala693=) c.1669G= (p.Ala557=) n.4158G= c.563G= c.7543G= (p.Ala2515=) c.7513G= (p.Ala2505=) c.7450G= (p.Ala2484=) c.6448G= (p.Ala2150=) c.896G= c.7649G= (n.7649G=) c.600+1994G= c.7504G= (p.Ala2502=) c.7480G= (p.Ala2494=) c.7540G= (p.Ala2514=) | |
| 17 | g.31352312G>T | CA399017546 | NF1 | c.7495G>T (p.Ala2499Ser) c.2077G>T (p.Ala693Ser) c.1669G>T (p.Ala557Ser) n.4158G>T c.563G>T c.7543G>T (p.Ala2515Ser) c.7513G>T (p.Ala2505Ser) c.7450G>T (p.Ala2484Ser) c.6448G>T (p.Ala2150Ser) c.896G>T c.7649G>T (n.7649G>T) c.600+1994G>T c.7504G>T (p.Ala2502Ser) c.7480G>T (p.Ala2494Ser) c.7540G>T (p.Ala2514Ser) | |
| 17 | g.31352313C>A | CA399017548 | NF1 | c.7496C>A (p.Ala2499Glu) c.2078C>A (p.Ala693Glu) c.1670C>A (p.Ala557Glu) n.4159C>A c.564C>A c.7544C>A (p.Ala2515Glu) c.7514C>A (p.Ala2505Glu) c.7451C>A (p.Ala2484Glu) c.6449C>A (p.Ala2150Glu) c.897C>A c.7650C>A (n.7650C>A) c.600+1995C>A c.7505C>A (p.Ala2502Glu) c.7481C>A (p.Ala2494Glu) c.7541C>A (p.Ala2514Glu) | dbSNP |
| 17 | g.31352313C= | CA2255609979 | NF1 | c.7496C= (p.Ala2499=) c.2078C= (p.Ala693=) c.1670C= (p.Ala557=) n.4159C= c.564C= c.7544C= (p.Ala2515=) c.7514C= (p.Ala2505=) c.7451C= (p.Ala2484=) c.6449C= (p.Ala2150=) c.897C= c.7650C= (n.7650C=) c.600+1995C= c.7505C= (p.Ala2502=) c.7481C= (p.Ala2494=) c.7541C= (p.Ala2514=) | |
| 17 | g.31352313C>G | CA399017550 | NF1 | c.7496C>G (p.Ala2499Gly) c.2078C>G (p.Ala693Gly) c.1670C>G (p.Ala557Gly) n.4159C>G c.564C>G c.7544C>G (p.Ala2515Gly) c.7514C>G (p.Ala2505Gly) c.7451C>G (p.Ala2484Gly) c.6449C>G (p.Ala2150Gly) c.897C>G c.7650C>G (n.7650C>G) c.600+1995C>G c.7505C>G (p.Ala2502Gly) c.7481C>G (p.Ala2494Gly) c.7541C>G (p.Ala2514Gly) | ClinVar dbSNP |
| 17 | g.31352313C>T | CA399017551 | NF1 | c.7496C>T (p.Ala2499Val) c.2078C>T (p.Ala693Val) c.1670C>T (p.Ala557Val) n.4159C>T c.564C>T c.7544C>T (p.Ala2515Val) c.7514C>T (p.Ala2505Val) c.7451C>T (p.Ala2484Val) c.6449C>T (p.Ala2150Val) c.897C>T c.7650C>T (n.7650C>T) c.600+1995C>T c.7505C>T (p.Ala2502Val) c.7481C>T (p.Ala2494Val) c.7541C>T (p.Ala2514Val) | ClinVar dbSNP |
| 17 | g.31352314A= | CA2255609983 | NF1 | c.7497A= (p.Ala2499=) c.2079A= (p.Ala693=) c.1671A= (p.Ala557=) n.4160A= c.565A= c.7545A= (p.Ala2515=) c.7515A= (p.Ala2505=) c.7452A= (p.Ala2484=) c.6450A= (p.Ala2150=) c.898A= c.7651A= (n.7651A=) c.600+1996A= c.7506A= (p.Ala2502=) c.7482A= (p.Ala2494=) c.7542A= (p.Ala2514=) | |
| 17 | g.31352314A>C | CA8487603 | NF1 | c.7497A>C (p.Ala2499=) c.2079A>C (p.Ala693=) c.1671A>C (p.Ala557=) n.4160A>C c.565A>C c.7545A>C (p.Ala2515=) c.7515A>C (p.Ala2505=) c.7452A>C (p.Ala2484=) c.6450A>C (p.Ala2150=) c.898A>C c.7651A>C (n.7651A>C) c.600+1996A>C c.7506A>C (p.Ala2502=) c.7482A>C (p.Ala2494=) c.7542A>C (p.Ala2514=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.31352314A>G | CA499239263 | NF1 | c.7497A>G (p.Ala2499=) c.2079A>G (p.Ala693=) c.1671A>G (p.Ala557=) n.4160A>G c.565A>G c.7545A>G (p.Ala2515=) c.7515A>G (p.Ala2505=) c.7452A>G (p.Ala2484=) c.6450A>G (p.Ala2150=) c.898A>G c.7651A>G (n.7651A>G) c.600+1996A>G c.7506A>G (p.Ala2502=) c.7482A>G (p.Ala2494=) c.7542A>G (p.Ala2514=) | dbSNP |
| 17 | g.31352314A>T | CA499239264 | NF1 | c.7497A>T (p.Ala2499=) c.2079A>T (p.Ala693=) c.1671A>T (p.Ala557=) n.4160A>T c.565A>T c.7545A>T (p.Ala2515=) c.7515A>T (p.Ala2505=) c.7452A>T (p.Ala2484=) c.6450A>T (p.Ala2150=) c.898A>T c.7651A>T (n.7651A>T) c.600+1996A>T c.7506A>T (p.Ala2502=) c.7482A>T (p.Ala2494=) c.7542A>T (p.Ala2514=) | dbSNP |
| 17 | g.31352315G>A | CA399017554 | NF1 | c.7498G>A (p.Ala2500Thr) c.2080G>A (p.Ala694Thr) c.1672G>A (p.Ala558Thr) n.4161G>A c.566G>A c.7546G>A (p.Ala2516Thr) c.7516G>A (p.Ala2506Thr) c.7453G>A (p.Ala2485Thr) c.6451G>A (p.Ala2151Thr) c.899G>A c.7652G>A (n.7652G>A) c.600+1997G>A c.7507G>A (p.Ala2503Thr) c.7483G>A (p.Ala2495Thr) c.7543G>A (p.Ala2515Thr) | dbSNP |
| 17 | g.31352315G>C | CA399017555 | NF1 | c.7498G>C (p.Ala2500Pro) c.2080G>C (p.Ala694Pro) c.1672G>C (p.Ala558Pro) n.4161G>C c.566G>C c.7546G>C (p.Ala2516Pro) c.7516G>C (p.Ala2506Pro) c.7453G>C (p.Ala2485Pro) c.6451G>C (p.Ala2151Pro) c.899G>C c.7652G>C (n.7652G>C) c.600+1997G>C c.7507G>C (p.Ala2503Pro) c.7483G>C (p.Ala2495Pro) c.7543G>C (p.Ala2515Pro) | |
| 17 | g.31352315G>T | CA399017556 | NF1 | c.7498G>T (p.Ala2500Ser) c.2080G>T (p.Ala694Ser) c.1672G>T (p.Ala558Ser) n.4161G>T c.566G>T c.7546G>T (p.Ala2516Ser) c.7516G>T (p.Ala2506Ser) c.7453G>T (p.Ala2485Ser) c.6451G>T (p.Ala2151Ser) c.899G>T c.7652G>T (n.7652G>T) c.600+1997G>T c.7507G>T (p.Ala2503Ser) c.7483G>T (p.Ala2495Ser) c.7543G>T (p.Ala2515Ser) | dbSNP |
| 17 | g.31352316C>A | CA399017558 | NF1 | c.7499C>A (p.Ala2500Asp) c.2081C>A (p.Ala694Asp) c.1673C>A (p.Ala558Asp) n.4162C>A c.567C>A c.7547C>A (p.Ala2516Asp) c.7517C>A (p.Ala2506Asp) c.7454C>A (p.Ala2485Asp) c.6452C>A (p.Ala2151Asp) c.900C>A c.7653C>A (n.7653C>A) c.600+1998C>A c.7508C>A (p.Ala2503Asp) c.7484C>A (p.Ala2495Asp) c.7544C>A (p.Ala2515Asp) | ClinVar dbSNP |
| 17 | g.31352316C>G | CA399017559 | NF1 | c.7499C>G (p.Ala2500Gly) c.2081C>G (p.Ala694Gly) c.1673C>G (p.Ala558Gly) n.4162C>G c.567C>G c.7547C>G (p.Ala2516Gly) c.7517C>G (p.Ala2506Gly) c.7454C>G (p.Ala2485Gly) c.6452C>G (p.Ala2151Gly) c.900C>G c.7653C>G (n.7653C>G) c.600+1998C>G c.7508C>G (p.Ala2503Gly) c.7484C>G (p.Ala2495Gly) c.7544C>G (p.Ala2515Gly) | dbSNP |
| 17 | g.31352316C>T | CA399017561 | NF1 | c.7499C>T (p.Ala2500Val) c.2081C>T (p.Ala694Val) c.1673C>T (p.Ala558Val) n.4162C>T c.567C>T c.7547C>T (p.Ala2516Val) c.7517C>T (p.Ala2506Val) c.7454C>T (p.Ala2485Val) c.6452C>T (p.Ala2151Val) c.900C>T c.7653C>T (n.7653C>T) c.600+1998C>T c.7508C>T (p.Ala2503Val) c.7484C>T (p.Ala2495Val) c.7544C>T (p.Ala2515Val) | dbSNP |
| 17 | g.31352317C>A | CA499239265 | NF1 | c.7500C>A (p.Ala2500=) c.2082C>A (p.Ala694=) c.1674C>A (p.Ala558=) n.4163C>A c.568C>A c.7548C>A (p.Ala2516=) c.7518C>A (p.Ala2506=) c.7455C>A (p.Ala2485=) c.6453C>A (p.Ala2151=) c.901C>A c.7654C>A (n.7654C>A) c.600+1999C>A c.7509C>A (p.Ala2503=) c.7485C>A (p.Ala2495=) c.7545C>A (p.Ala2515=) | gnomAD v4 |
| 17 | g.31352317C= | CA2255609988 | NF1 | c.7500C= (p.Ala2500=) c.2082C= (p.Ala694=) c.1674C= (p.Ala558=) n.4163C= c.568C= c.7548C= (p.Ala2516=) c.7518C= (p.Ala2506=) c.7455C= (p.Ala2485=) c.6453C= (p.Ala2151=) c.901C= c.7654C= (n.7654C=) c.600+1999C= c.7509C= (p.Ala2503=) c.7485C= (p.Ala2495=) c.7545C= (p.Ala2515=) | |
| 17 | g.31352317C>G | CA499239266 | NF1 | c.7500C>G (p.Ala2500=) c.2082C>G (p.Ala694=) c.1674C>G (p.Ala558=) n.4163C>G c.568C>G c.7548C>G (p.Ala2516=) c.7518C>G (p.Ala2506=) c.7455C>G (p.Ala2485=) c.6453C>G (p.Ala2151=) c.901C>G c.7654C>G (n.7654C>G) c.600+1999C>G c.7509C>G (p.Ala2503=) c.7485C>G (p.Ala2495=) c.7545C>G (p.Ala2515=) | dbSNP |