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.31352367_31353908del | CA2580093421 | NF1 | c.7550_7597+1494del c.2132_2179+1494del c.1724_1771+1494del n.4213_4260+1494del c.618_665+1494del c.7598_7645+1494del c.7568_7615+1494del c.7505_7552+1494del c.6503_6550+1494del c.951_998+1494del c.7704_7751+1494del c.600+2049_601-2552del c.7559_7606+1494del c.7535_7582+1494del c.7595_7642+1494del | ClinVar |
| 17 | g.31352405_31352407del | CA2637079536 | NF1 | c.7588_7590del (p.Lys2530del) c.2170_2172del (p.Lys724del) c.1762_1764del (p.Lys588del) n.4251_4253del c.656_658del c.7636_7638del (p.Lys2546del) c.7606_7608del (p.Lys2536del) c.7543_7545del (p.Lys2515del) c.6541_6543del (p.Lys2181del) c.989_991del c.7742_7744del (n.7742_7744del) c.600+2087_600+2089del c.7597_7599del (p.Lys2533del) c.7573_7575del (p.Lys2525del) c.7633_7635del (p.Lys2545del) | gnomAD v4 |
| 17 | g.31352403_31352414delinsAGAAGTTGCTTG | CA2255610219 | NF1 | c.7586_7597delinsAGAAGTTGCTTG (p.Lys2529=) c.2168_2179delinsAGAAGTTGCTTG (p.Lys723=) c.1760_1771delinsAGAAGTTGCTTG (p.Lys587=) n.4249_4260delinsAGAAGTTGCTTG c.654_665delinsAGAAGTTGCTTG c.7634_7645delinsAGAAGTTGCTTG (p.Lys2545=) c.7604_7615delinsAGAAGTTGCTTG (p.Lys2535=) c.7541_7552delinsAGAAGTTGCTTG (p.Lys2514=) c.6539_6550delinsAGAAGTTGCTTG (p.Lys2180=) c.987_998delinsAGAAGTTGCTTG c.7740_7751delinsAGAAGTTGCTTG (n.7740_7751delinsAGAAGTTGCTTG) c.600+2085_600+2096delinsAGAAGTTGCTTG c.7595_7606delinsAGAAGTTGCTTG (p.Lys2532=) c.7571_7582delinsAGAAGTTGCTTG (p.Lys2524=) c.7631_7642delinsAGAAGTTGCTTG (p.Lys2544=) | |
| 17 | g.31352405_31352415del | CA645369731 | NF1 | c.7588_7597+1del c.2170_2179+1del c.1762_1771+1del n.4251_4260+1del c.656_665+1del c.7636_7645+1del c.7606_7615+1del c.7543_7552+1del c.6541_6550+1del c.989_998+1del c.7742_7751+1del c.600+2087_600+2097del c.7597_7606+1del c.7573_7582+1del c.7633_7642+1del | ClinVar dbSNP |
| 17 | g.31352406del | CA16615589 | NF1 | c.7589del (p.Lys2530SerfsTer12) c.2171del (p.Lys724SerfsTer12) c.1763del (p.Lys588SerfsTer12) n.4252del c.657del c.7637del (p.Lys2546SerfsTer12) c.7607del (p.Lys2536SerfsTer12) c.7544del (p.Lys2515SerfsTer12) c.6542del (p.Lys2181SerfsTer12) c.990del c.7743del (n.7743del) c.600+2088del c.7598del (p.Lys2533SerfsTer12) c.7574del (p.Lys2525SerfsTer12) c.7634del (p.Lys2545SerfsTer12) c.7637del (p.Lys2546SerfsTer?) | ClinVar dbSNP |
| 17 | g.31352406A>C | CA399017871 | NF1 | c.7589A>C (p.Lys2530Thr) c.2171A>C (p.Lys724Thr) c.1763A>C (p.Lys588Thr) n.4252A>C c.657A>C c.7637A>C (p.Lys2546Thr) c.7607A>C (p.Lys2536Thr) c.7544A>C (p.Lys2515Thr) c.6542A>C (p.Lys2181Thr) c.990A>C c.7743A>C (n.7743A>C) c.600+2088A>C c.7598A>C (p.Lys2533Thr) c.7574A>C (p.Lys2525Thr) c.7634A>C (p.Lys2545Thr) | |
| 17 | g.31352406A>G | CA399017873 | NF1 | c.7589A>G (p.Lys2530Arg) c.2171A>G (p.Lys724Arg) c.1763A>G (p.Lys588Arg) n.4252A>G c.657A>G c.7637A>G (p.Lys2546Arg) c.7607A>G (p.Lys2536Arg) c.7544A>G (p.Lys2515Arg) c.6542A>G (p.Lys2181Arg) c.990A>G c.7743A>G (n.7743A>G) c.600+2088A>G c.7598A>G (p.Lys2533Arg) c.7574A>G (p.Lys2525Arg) c.7634A>G (p.Lys2545Arg) | dbSNP |
| 17 | g.31352406A>T | CA399017874 | NF1 | c.7589A>T (p.Lys2530Met) c.2171A>T (p.Lys724Met) c.1763A>T (p.Lys588Met) n.4252A>T c.657A>T c.7637A>T (p.Lys2546Met) c.7607A>T (p.Lys2536Met) c.7544A>T (p.Lys2515Met) c.6542A>T (p.Lys2181Met) c.990A>T c.7743A>T (n.7743A>T) c.600+2088A>T c.7598A>T (p.Lys2533Met) c.7574A>T (p.Lys2525Met) c.7634A>T (p.Lys2545Met) | dbSNP |
| 17 | g.31352406_31352407delinsAG | CA2255610244 | NF1 | c.7589_7590delinsAG (p.Lys2530=) c.2171_2172delinsAG (p.Lys724=) c.1763_1764delinsAG (p.Lys588=) n.4252_4253delinsAG c.657_658delinsAG c.7637_7638delinsAG (p.Lys2546=) c.7607_7608delinsAG (p.Lys2536=) c.7544_7545delinsAG (p.Lys2515=) c.6542_6543delinsAG (p.Lys2181=) c.990_991delinsAG c.7743_7744delinsAG (n.7743_7744delinsAG) c.600+2088_600+2089delinsAG c.7598_7599delinsAG (p.Lys2533=) c.7574_7575delinsAG (p.Lys2525=) c.7634_7635delinsAG (p.Lys2545=) | |
| 17 | g.31352406_31352407dup | CA2695225517 | NF1 | c.7589_7590dup (p.Leu2531SerfsTer12) c.2171_2172dup (p.Leu725SerfsTer12) c.1763_1764dup (p.Leu589SerfsTer12) n.4252_4253dup c.657_658dup c.7637_7638dup (p.Leu2547SerfsTer12) c.7607_7608dup (p.Leu2537SerfsTer12) c.7544_7545dup (p.Leu2516SerfsTer12) c.6542_6543dup (p.Leu2182SerfsTer12) c.990_991dup c.7743_7744dup (n.7743_7744dup) c.600+2088_600+2089dup c.7598_7599dup (p.Leu2534SerfsTer12) c.7574_7575dup (p.Leu2526SerfsTer12) c.7634_7635dup (p.Leu2546SerfsTer12) c.7637_7638dup (p.Leu2547SerfsTer?) | |
| 17 | g.31352407del | CA916080678 | NF1 | c.7590del (p.Lys2530AsnfsTer12) c.2172del (p.Lys724AsnfsTer12) c.1764del (p.Lys588AsnfsTer12) n.4253del c.658del c.7638del (p.Lys2546AsnfsTer12) c.7608del (p.Lys2536AsnfsTer12) c.7545del (p.Lys2515AsnfsTer12) c.6543del (p.Lys2181AsnfsTer12) c.991del c.7744del (n.7744del) c.600+2089del c.7599del (p.Lys2533AsnfsTer12) c.7575del (p.Lys2525AsnfsTer12) c.7635del (p.Lys2545AsnfsTer12) c.7638del (p.Lys2546AsnfsTer?) | ClinVar dbSNP |
| 17 | g.31352407G>A | CA499239324 | NF1 | c.7590G>A (p.Lys2530=) c.2172G>A (p.Lys724=) c.1764G>A (p.Lys588=) n.4253G>A c.658G>A c.7638G>A (p.Lys2546=) c.7608G>A (p.Lys2536=) c.7545G>A (p.Lys2515=) c.6543G>A (p.Lys2181=) c.991G>A c.7744G>A (n.7744G>A) c.600+2089G>A c.7599G>A (p.Lys2533=) c.7575G>A (p.Lys2525=) c.7635G>A (p.Lys2545=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31352407G>C | CA399017877 | NF1 | c.7590G>C (p.Lys2530Asn) c.2172G>C (p.Lys724Asn) c.1764G>C (p.Lys588Asn) n.4253G>C c.658G>C c.7638G>C (p.Lys2546Asn) c.7608G>C (p.Lys2536Asn) c.7545G>C (p.Lys2515Asn) c.6543G>C (p.Lys2181Asn) c.991G>C c.7744G>C (n.7744G>C) c.600+2089G>C c.7599G>C (p.Lys2533Asn) c.7575G>C (p.Lys2525Asn) c.7635G>C (p.Lys2545Asn) | dbSNP |
| 17 | g.31352407G= | CA2255610254 | NF1 | c.7590G= (p.Lys2530=) c.2172G= (p.Lys724=) c.1764G= (p.Lys588=) n.4253G= c.658G= c.7638G= (p.Lys2546=) c.7608G= (p.Lys2536=) c.7545G= (p.Lys2515=) c.6543G= (p.Lys2181=) c.991G= c.7744G= (n.7744G=) c.600+2089G= c.7599G= (p.Lys2533=) c.7575G= (p.Lys2525=) c.7635G= (p.Lys2545=) | |
| 17 | g.31352407G>T | CA399017875 | NF1 | c.7590G>T (p.Lys2530Asn) c.2172G>T (p.Lys724Asn) c.1764G>T (p.Lys588Asn) n.4253G>T c.658G>T c.7638G>T (p.Lys2546Asn) c.7608G>T (p.Lys2536Asn) c.7545G>T (p.Lys2515Asn) c.6543G>T (p.Lys2181Asn) c.991G>T c.7744G>T (n.7744G>T) c.600+2089G>T c.7599G>T (p.Lys2533Asn) c.7575G>T (p.Lys2525Asn) c.7635G>T (p.Lys2545Asn) | ClinVar dbSNP |
| 17 | g.31352408T>A | CA399017879 | NF1 | c.7591T>A (p.Leu2531Met) c.2173T>A (p.Leu725Met) c.1765T>A (p.Leu589Met) n.4254T>A c.659T>A c.7639T>A (p.Leu2547Met) c.7609T>A (p.Leu2537Met) c.7546T>A (p.Leu2516Met) c.6544T>A (p.Leu2182Met) c.992T>A c.7745T>A (n.7745T>A) c.600+2090T>A c.7600T>A (p.Leu2534Met) c.7576T>A (p.Leu2526Met) c.7636T>A (p.Leu2546Met) | dbSNP gnomAD v4 |
| 17 | g.31352408T>C | CA8487613 | NF1 | c.7591T>C (p.Leu2531=) c.2173T>C (p.Leu725=) c.1765T>C (p.Leu589=) n.4254T>C c.659T>C c.7639T>C (p.Leu2547=) c.7609T>C (p.Leu2537=) c.7546T>C (p.Leu2516=) c.6544T>C (p.Leu2182=) c.992T>C c.7745T>C (n.7745T>C) c.600+2090T>C c.7600T>C (p.Leu2534=) c.7576T>C (p.Leu2526=) c.7636T>C (p.Leu2546=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.31352408T>G | CA399017881 | NF1 | c.7591T>G (p.Leu2531Val) c.2173T>G (p.Leu725Val) c.1765T>G (p.Leu589Val) n.4254T>G c.659T>G c.7639T>G (p.Leu2547Val) c.7609T>G (p.Leu2537Val) c.7546T>G (p.Leu2516Val) c.6544T>G (p.Leu2182Val) c.992T>G c.7745T>G (n.7745T>G) c.600+2090T>G c.7600T>G (p.Leu2534Val) c.7576T>G (p.Leu2526Val) c.7636T>G (p.Leu2546Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31352408T= | CA2255610262 | NF1 | c.7591T= (p.Leu2531=) c.2173T= (p.Leu725=) c.1765T= (p.Leu589=) n.4254T= c.659T= c.7639T= (p.Leu2547=) c.7609T= (p.Leu2537=) c.7546T= (p.Leu2516=) c.6544T= (p.Leu2182=) c.992T= c.7745T= (n.7745T=) c.600+2090T= c.7600T= (p.Leu2534=) c.7576T= (p.Leu2526=) c.7636T= (p.Leu2546=) | |
| 17 | g.31352409dup | CA658761033 | NF1 | c.7592dup (p.Leu2531PhefsTer9) c.2174dup (p.Leu725PhefsTer9) c.1766dup (p.Leu589PhefsTer9) n.4255dup c.660dup c.7640dup (p.Leu2547PhefsTer9) c.7610dup (p.Leu2537PhefsTer9) c.7547dup (p.Leu2516PhefsTer9) c.6545dup (p.Leu2182PhefsTer9) c.993dup c.7746dup (n.7746dup) c.600+2091dup c.7601dup (p.Leu2534PhefsTer9) c.7577dup (p.Leu2526PhefsTer9) c.7637dup (p.Leu2546PhefsTer9) c.7640dup (p.Leu2547PhefsTer3) | |
| 17 | g.31352409del | CA2499224232 | NF1 | c.7592del (p.Leu2531CysfsTer11) c.2174del (p.Leu725CysfsTer11) c.1766del (p.Leu589CysfsTer11) n.4255del c.660del c.7640del (p.Leu2547CysfsTer11) c.7610del (p.Leu2537CysfsTer11) c.7547del (p.Leu2516CysfsTer11) c.6545del (p.Leu2182CysfsTer11) c.993del c.7746del (n.7746del) c.600+2091del c.7601del (p.Leu2534CysfsTer11) c.7577del (p.Leu2526CysfsTer11) c.7637del (p.Leu2546CysfsTer11) c.7640del (p.Leu2547CysfsTer?) | ClinVar dbSNP |
| 17 | g.31352409T>A | CA399017882 | NF1 | c.7592T>A (p.Leu2531Ter) c.2174T>A (p.Leu725Ter) c.1766T>A (p.Leu589Ter) n.4255T>A c.660T>A c.7640T>A (p.Leu2547Ter) c.7610T>A (p.Leu2537Ter) c.7547T>A (p.Leu2516Ter) c.6545T>A (p.Leu2182Ter) c.993T>A c.7746T>A (n.7746T>A) c.600+2091T>A c.7601T>A (p.Leu2534Ter) c.7577T>A (p.Leu2526Ter) c.7637T>A (p.Leu2546Ter) | dbSNP |
| 17 | g.31352409T>C | CA10580414 | NF1 | c.7592T>C (p.Leu2531Ser) c.2174T>C (p.Leu725Ser) c.1766T>C (p.Leu589Ser) n.4255T>C c.660T>C c.7640T>C (p.Leu2547Ser) c.7610T>C (p.Leu2537Ser) c.7547T>C (p.Leu2516Ser) c.6545T>C (p.Leu2182Ser) c.993T>C c.7746T>C (n.7746T>C) c.600+2091T>C c.7601T>C (p.Leu2534Ser) c.7577T>C (p.Leu2526Ser) c.7637T>C (p.Leu2546Ser) | ClinVar dbSNP |
| 17 | g.31352409T>G | CA399017884 | NF1 | c.7592T>G (p.Leu2531Trp) c.2174T>G (p.Leu725Trp) c.1766T>G (p.Leu589Trp) n.4255T>G c.660T>G c.7640T>G (p.Leu2547Trp) c.7610T>G (p.Leu2537Trp) c.7547T>G (p.Leu2516Trp) c.6545T>G (p.Leu2182Trp) c.993T>G c.7746T>G (n.7746T>G) c.600+2091T>G c.7601T>G (p.Leu2534Trp) c.7577T>G (p.Leu2526Trp) c.7637T>G (p.Leu2546Trp) | |
| 17 | g.31352409T= | CA2255610268 | NF1 | c.7592T= (p.Leu2531=) c.2174T= (p.Leu725=) c.1766T= (p.Leu589=) n.4255T= c.660T= c.7640T= (p.Leu2547=) c.7610T= (p.Leu2537=) c.7547T= (p.Leu2516=) c.6545T= (p.Leu2182=) c.993T= c.7746T= (n.7746T=) c.600+2091T= c.7601T= (p.Leu2534=) c.7577T= (p.Leu2526=) c.7637T= (p.Leu2546=) | |
| 17 | g.31352410G>A | CA499239325 | NF1 | c.7593G>A (p.Leu2531=) c.2175G>A (p.Leu725=) c.1767G>A (p.Leu589=) n.4256G>A c.661G>A c.7641G>A (p.Leu2547=) c.7611G>A (p.Leu2537=) c.7548G>A (p.Leu2516=) c.6546G>A (p.Leu2182=) c.994G>A c.7747G>A (n.7747G>A) c.600+2092G>A c.7602G>A (p.Leu2534=) c.7578G>A (p.Leu2526=) c.7638G>A (p.Leu2546=) | ClinVar dbSNP |
| 17 | g.31352410G>C | CA399017886 | NF1 | c.7593G>C (p.Leu2531Phe) c.2175G>C (p.Leu725Phe) c.1767G>C (p.Leu589Phe) n.4256G>C c.661G>C c.7641G>C (p.Leu2547Phe) c.7611G>C (p.Leu2537Phe) c.7548G>C (p.Leu2516Phe) c.6546G>C (p.Leu2182Phe) c.994G>C c.7747G>C (n.7747G>C) c.600+2092G>C c.7602G>C (p.Leu2534Phe) c.7578G>C (p.Leu2526Phe) c.7638G>C (p.Leu2546Phe) | dbSNP |
| 17 | g.31352410G= | CA2255610275 | NF1 | c.7593G= (p.Leu2531=) c.2175G= (p.Leu725=) c.1767G= (p.Leu589=) n.4256G= c.661G= c.7641G= (p.Leu2547=) c.7611G= (p.Leu2537=) c.7548G= (p.Leu2516=) c.6546G= (p.Leu2182=) c.994G= c.7747G= (n.7747G=) c.600+2092G= c.7602G= (p.Leu2534=) c.7578G= (p.Leu2526=) c.7638G= (p.Leu2546=) | |
| 17 | g.31352410G>T | CA399017887 | NF1 | c.7593G>T (p.Leu2531Phe) c.2175G>T (p.Leu725Phe) c.1767G>T (p.Leu589Phe) n.4256G>T c.661G>T c.7641G>T (p.Leu2547Phe) c.7611G>T (p.Leu2537Phe) c.7548G>T (p.Leu2516Phe) c.6546G>T (p.Leu2182Phe) c.994G>T c.7747G>T (n.7747G>T) c.600+2092G>T c.7602G>T (p.Leu2534Phe) c.7578G>T (p.Leu2526Phe) c.7638G>T (p.Leu2546Phe) | |
| 17 | g.31352410_31352411delinsGC | CA2255610273 | NF1 | c.7593_7594delinsGC (p.Leu2531=) c.2175_2176delinsGC (p.Leu725=) c.1767_1768delinsGC (p.Leu589=) n.4256_4257delinsGC c.661_662delinsGC c.7641_7642delinsGC (p.Leu2547=) c.7611_7612delinsGC (p.Leu2537=) c.7548_7549delinsGC (p.Leu2516=) c.6546_6547delinsGC (p.Leu2182=) c.994_995delinsGC c.7747_7748delinsGC (n.7747_7748delinsGC) c.600+2092_600+2093delinsGC c.7602_7603delinsGC (p.Leu2534=) c.7578_7579delinsGC (p.Leu2526=) c.7638_7639delinsGC (p.Leu2546=) | |
| 17 | g.31352411del | CA915949876 | NF1 | c.7594del (p.Gly2533GlufsTer9) c.2176del (p.Gly727GlufsTer9) c.1768del (p.Gly591GlufsTer9) n.4257del c.662del c.7642del (p.Gly2549GlufsTer9) c.7612del (p.Gly2539GlufsTer9) c.7549del (p.Gly2518GlufsTer9) c.6547del (p.Gly2184GlufsTer9) c.995del c.7748del (n.7748del) c.600+2093del c.7603del (p.Gly2536GlufsTer9) c.7579del (p.Gly2528GlufsTer9) c.7639del (p.Gly2548GlufsTer9) c.7642del (p.Glu2549LysfsTer?) | ClinVar dbSNP |
| 17 | g.31352411C>A | CA399017891 | NF1 | c.7594C>A (p.Leu2532Ile) c.2176C>A (p.Leu726Ile) c.1768C>A (p.Leu590Ile) n.4257C>A c.662C>A c.7642C>A (p.Leu2548Ile) c.7612C>A (p.Leu2538Ile) c.7549C>A (p.Leu2517Ile) c.6547C>A (p.Leu2183Ile) c.995C>A c.7748C>A (n.7748C>A) c.600+2093C>A c.7603C>A (p.Leu2535Ile) c.7579C>A (p.Leu2527Ile) c.7639C>A (p.Leu2547Ile) | dbSNP |
| 17 | g.31352411C= | CA2255610279 | NF1 | c.7594C= (p.Leu2532=) c.2176C= (p.Leu726=) c.1768C= (p.Leu590=) n.4257C= c.662C= c.7642C= (p.Leu2548=) c.7612C= (p.Leu2538=) c.7549C= (p.Leu2517=) c.6547C= (p.Leu2183=) c.995C= c.7748C= (n.7748C=) c.600+2093C= c.7603C= (p.Leu2535=) c.7579C= (p.Leu2527=) c.7639C= (p.Leu2547=) | |
| 17 | g.31352411C>G | CA399017889 | NF1 | c.7594C>G (p.Leu2532Val) c.2176C>G (p.Leu726Val) c.1768C>G (p.Leu590Val) n.4257C>G c.662C>G c.7642C>G (p.Leu2548Val) c.7612C>G (p.Leu2538Val) c.7549C>G (p.Leu2517Val) c.6547C>G (p.Leu2183Val) c.995C>G c.7748C>G (n.7748C>G) c.600+2093C>G c.7603C>G (p.Leu2535Val) c.7579C>G (p.Leu2527Val) c.7639C>G (p.Leu2547Val) | dbSNP |
| 17 | g.31352411C>T | CA8487614 | NF1 | c.7594C>T (p.Leu2532Phe) c.2176C>T (p.Leu726Phe) c.1768C>T (p.Leu590Phe) n.4257C>T c.662C>T c.7642C>T (p.Leu2548Phe) c.7612C>T (p.Leu2538Phe) c.7549C>T (p.Leu2517Phe) c.6547C>T (p.Leu2183Phe) c.995C>T c.7748C>T (n.7748C>T) c.600+2093C>T c.7603C>T (p.Leu2535Phe) c.7579C>T (p.Leu2527Phe) c.7639C>T (p.Leu2547Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.31352411_31352412delinsCT | CA2255610281 | NF1 | c.7594_7595delinsCT (p.Leu2532=) c.2176_2177delinsCT (p.Leu726=) c.1768_1769delinsCT (p.Leu590=) n.4257_4258delinsCT c.662_663delinsCT c.7642_7643delinsCT (p.Leu2548=) c.7612_7613delinsCT (p.Leu2538=) c.7549_7550delinsCT (p.Leu2517=) c.6547_6548delinsCT (p.Leu2183=) c.995_996delinsCT c.7748_7749delinsCT (n.7748_7749delinsCT) c.600+2093_600+2094delinsCT c.7603_7604delinsCT (p.Leu2535=) c.7579_7580delinsCT (p.Leu2527=) c.7639_7640delinsCT (p.Leu2547=) | |
| 17 | g.31352412T>A | CA399017893 | NF1 | c.7595T>A (p.Leu2532His) c.2177T>A (p.Leu726His) c.1769T>A (p.Leu590His) n.4258T>A c.663T>A c.7643T>A (p.Leu2548His) c.7613T>A (p.Leu2538His) c.7550T>A (p.Leu2517His) c.6548T>A (p.Leu2183His) c.996T>A c.7749T>A (n.7749T>A) c.600+2094T>A c.7604T>A (p.Leu2535His) c.7580T>A (p.Leu2527His) c.7640T>A (p.Leu2547His) | dbSNP |
| 17 | g.31352412T>C | CA399017894 | NF1 | c.7595T>C (p.Leu2532Pro) c.2177T>C (p.Leu726Pro) c.1769T>C (p.Leu590Pro) n.4258T>C c.663T>C c.7643T>C (p.Leu2548Pro) c.7613T>C (p.Leu2538Pro) c.7550T>C (p.Leu2517Pro) c.6548T>C (p.Leu2183Pro) c.996T>C c.7749T>C (n.7749T>C) c.600+2094T>C c.7604T>C (p.Leu2535Pro) c.7580T>C (p.Leu2527Pro) c.7640T>C (p.Leu2547Pro) | dbSNP |
| 17 | g.31352412T>G | CA399017896 | NF1 | c.7595T>G (p.Leu2532Arg) c.2177T>G (p.Leu726Arg) c.1769T>G (p.Leu590Arg) n.4258T>G c.663T>G c.7643T>G (p.Leu2548Arg) c.7613T>G (p.Leu2538Arg) c.7550T>G (p.Leu2517Arg) c.6548T>G (p.Leu2183Arg) c.996T>G c.7749T>G (n.7749T>G) c.600+2094T>G c.7604T>G (p.Leu2535Arg) c.7580T>G (p.Leu2527Arg) c.7640T>G (p.Leu2547Arg) | |
| 17 | g.31352413del | CA1139665477 | NF1 | c.7596del (p.Gly2533GlufsTer9) c.2178del (p.Gly727GlufsTer9) c.1770del (p.Gly591GlufsTer9) n.4259del c.664del c.7644del (p.Gly2549GlufsTer9) c.7614del (p.Gly2539GlufsTer9) c.7551del (p.Gly2518GlufsTer9) c.6549del (p.Gly2184GlufsTer9) c.997del c.7750del (n.7750del) c.600+2095del c.7605del (p.Gly2536GlufsTer9) c.7581del (p.Gly2528GlufsTer9) c.7641del (p.Gly2548GlufsTer9) c.7644del (p.Glu2549LysfsTer?) | ClinVar dbSNP |
| 17 | g.31352413T>A | CA499239326 | NF1 | c.7596T>A (p.Leu2532=) c.2178T>A (p.Leu726=) c.1770T>A (p.Leu590=) n.4259T>A c.664T>A c.7644T>A (p.Leu2548=) c.7614T>A (p.Leu2538=) c.7551T>A (p.Leu2517=) c.6549T>A (p.Leu2183=) c.997T>A c.7750T>A (n.7750T>A) c.600+2095T>A c.7605T>A (p.Leu2535=) c.7581T>A (p.Leu2527=) c.7641T>A (p.Leu2547=) | |
| 17 | g.31352413T>C | CA499239327 | NF1 | c.7596T>C (p.Leu2532=) c.2178T>C (p.Leu726=) c.1770T>C (p.Leu590=) n.4259T>C c.664T>C c.7644T>C (p.Leu2548=) c.7614T>C (p.Leu2538=) c.7551T>C (p.Leu2517=) c.6549T>C (p.Leu2183=) c.997T>C c.7750T>C (n.7750T>C) c.600+2095T>C c.7605T>C (p.Leu2535=) c.7581T>C (p.Leu2527=) c.7641T>C (p.Leu2547=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31352413T>G | CA499239328 | NF1 | c.7596T>G (p.Leu2532=) c.2178T>G (p.Leu726=) c.1770T>G (p.Leu590=) n.4259T>G c.664T>G c.7644T>G (p.Leu2548=) c.7614T>G (p.Leu2538=) c.7551T>G (p.Leu2517=) c.6549T>G (p.Leu2183=) c.997T>G c.7750T>G (n.7750T>G) c.600+2095T>G c.7605T>G (p.Leu2535=) c.7581T>G (p.Leu2527=) c.7641T>G (p.Leu2547=) | |
| 17 | g.31352413T= | CA2255610286 | NF1 | c.7596T= (p.Leu2532=) c.2178T= (p.Leu726=) c.1770T= (p.Leu590=) n.4259T= c.664T= c.7644T= (p.Leu2548=) c.7614T= (p.Leu2538=) c.7551T= (p.Leu2517=) c.6549T= (p.Leu2183=) c.997T= c.7750T= (n.7750T=) c.600+2095T= c.7605T= (p.Leu2535=) c.7581T= (p.Leu2527=) c.7641T= (p.Leu2547=) | |
| 17 | g.31352413_31352414delinsTG | CA2255610288 | NF1 | c.7596_7597delinsTG (p.Leu2532=) c.2178_2179delinsTG (p.Leu726=) c.1770_1771delinsTG (p.Leu590=) n.4259_4260delinsTG c.664_665delinsTG c.7644_7645delinsTG (p.Leu2548=) c.7614_7615delinsTG (p.Leu2538=) c.7551_7552delinsTG (p.Leu2517=) c.6549_6550delinsTG (p.Leu2183=) c.997_998delinsTG c.7750_7751delinsTG (n.7750_7751delinsTG) c.600+2095_600+2096delinsTG c.7605_7606delinsTG (p.Leu2535=) c.7581_7582delinsTG (p.Leu2527=) c.7641_7642delinsTG (p.Leu2547=) | |
| 17 | g.31352414G>A | CA399017897 | NF1 | c.7597G>A (p.Gly2533Arg) c.2179G>A (p.Gly727Arg) c.1771G>A (p.Gly591Arg) n.4260G>A c.665G>A c.7645G>A (p.Gly2549Arg) c.7615G>A (p.Gly2539Arg) c.7552G>A (p.Gly2518Arg) c.6550G>A (p.Gly2184Arg) c.998G>A c.7751G>A (n.7751G>A) c.600+2096G>A c.7606G>A (p.Gly2536Arg) c.7582G>A (p.Gly2528Arg) c.7642G>A (p.Gly2548Arg) c.7645G>A (p.Glu2549Lys) | ClinVar dbSNP |
| 17 | g.31352414G>C | CA399017899 | NF1 | c.7597G>C (p.Gly2533Arg) c.2179G>C (p.Gly727Arg) c.1771G>C (p.Gly591Arg) n.4260G>C c.665G>C c.7645G>C (p.Gly2549Arg) c.7615G>C (p.Gly2539Arg) c.7552G>C (p.Gly2518Arg) c.6550G>C (p.Gly2184Arg) c.998G>C c.7751G>C (n.7751G>C) c.600+2096G>C c.7606G>C (p.Gly2536Arg) c.7582G>C (p.Gly2528Arg) c.7642G>C (p.Gly2548Arg) c.7645G>C (p.Glu2549Gln) | dbSNP |
| 17 | g.31352414G>T | CA399017900 | NF1 | c.7597G>T (p.Gly2533Ter) c.2179G>T (p.Gly727Ter) c.1771G>T (p.Gly591Ter) n.4260G>T c.665G>T c.7645G>T (p.Gly2549Ter) c.7615G>T (p.Gly2539Ter) c.7552G>T (p.Gly2518Ter) c.6550G>T (p.Gly2184Ter) c.998G>T c.7751G>T (n.7751G>T) c.600+2096G>T c.7606G>T (p.Gly2536Ter) c.7582G>T (p.Gly2528Ter) c.7642G>T (p.Gly2548Ter) c.7645G>T (p.Glu2549Ter) | ClinVar dbSNP |