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 |
|---|---|---|---|---|---|
| 17 | g.31349077_31349168del | CA645572259 | NF1 | c.7172-43_7220del c.1754-43_1802del c.1346-43_1394del n.3835-43_3883del c.240-43_288del c.7220-43_7268del c.7190-43_7238del c.7127-43_7175del c.6125-43_6173del c.573-43_621del c.7326-43_7374del c.333-43_381del c.7181-43_7229del c.7157-43_7205del c.7217-43_7265del | COSMIC |
| 17 | g.31349144_31349154del | CA2695225461 | NF1 | c.7196_7206del (p.Ile2399AsnfsTer13) c.1778_1788del (p.Ile593AsnfsTer13) c.1370_1380del (p.Ile457AsnfsTer13) n.3859_3869del c.264_274del c.7244_7254del (p.Ile2415AsnfsTer13) c.7214_7224del (p.Ile2405AsnfsTer13) c.7151_7161del (p.Ile2384AsnfsTer13) c.6149_6159del (p.Ile2050AsnfsTer13) c.597_607del c.7350_7360del (n.7350_7360del) c.357_367del c.7205_7215del (p.Ile2402AsnfsTer13) c.7181_7191del (p.Ile2394AsnfsTer13) c.7241_7251del (p.Ile2414AsnfsTer13) | |
| 17 | g.31349144T>A | CA399016701 | NF1 | c.7196T>A (p.Ile2399Asn) c.1778T>A (p.Ile593Asn) c.1370T>A (p.Ile457Asn) n.3859T>A c.264T>A c.7244T>A (p.Ile2415Asn) c.7214T>A (p.Ile2405Asn) c.7151T>A (p.Ile2384Asn) c.6149T>A (p.Ile2050Asn) c.597T>A c.7350T>A (n.7350T>A) c.357T>A n.456T>A c.7205T>A (p.Ile2402Asn) c.7181T>A (p.Ile2394Asn) c.7241T>A (p.Ile2414Asn) | dbSNP |
| 17 | g.31349144T>C | CA399016702 | NF1 | c.7196T>C (p.Ile2399Thr) c.1778T>C (p.Ile593Thr) c.1370T>C (p.Ile457Thr) n.3859T>C c.264T>C c.7244T>C (p.Ile2415Thr) c.7214T>C (p.Ile2405Thr) c.7151T>C (p.Ile2384Thr) c.6149T>C (p.Ile2050Thr) c.597T>C c.7350T>C (n.7350T>C) c.357T>C n.456T>C c.7205T>C (p.Ile2402Thr) c.7181T>C (p.Ile2394Thr) c.7241T>C (p.Ile2414Thr) | ClinVar |
| 17 | g.31349144T>G | CA399016700 | NF1 | c.7196T>G (p.Ile2399Ser) c.1778T>G (p.Ile593Ser) c.1370T>G (p.Ile457Ser) n.3859T>G c.264T>G c.7244T>G (p.Ile2415Ser) c.7214T>G (p.Ile2405Ser) c.7151T>G (p.Ile2384Ser) c.6149T>G (p.Ile2050Ser) c.597T>G c.7350T>G (n.7350T>G) c.357T>G n.456T>G c.7205T>G (p.Ile2402Ser) c.7181T>G (p.Ile2394Ser) c.7241T>G (p.Ile2414Ser) | ClinVar dbSNP |
| 17 | g.31349145dup | CA2695225463 | NF1 | c.7197dup (p.Val2400CysfsTer16) c.1779dup (p.Val594CysfsTer16) c.1371dup (p.Val458CysfsTer16) n.3860dup c.265dup c.7245dup (p.Val2416CysfsTer16) c.7215dup (p.Val2406CysfsTer16) c.7152dup (p.Val2385CysfsTer16) c.6150dup (p.Val2051CysfsTer16) c.598dup c.7351dup (n.7351dup) c.358dup n.457dup c.7206dup (p.Val2403CysfsTer16) c.7182dup (p.Val2395CysfsTer16) c.7242dup (p.Val2415CysfsTer16) | |
| 17 | g.31349145T>A | CA499239070 | NF1 | c.7197T>A (p.Ile2399=) c.1779T>A (p.Ile593=) c.1371T>A (p.Ile457=) n.3860T>A c.265T>A c.7245T>A (p.Ile2415=) c.7215T>A (p.Ile2405=) c.7152T>A (p.Ile2384=) c.6150T>A (p.Ile2050=) c.598T>A c.7351T>A (n.7351T>A) c.358T>A n.457T>A c.7206T>A (p.Ile2402=) c.7182T>A (p.Ile2394=) c.7242T>A (p.Ile2414=) | |
| 17 | g.31349145T>C | CA499239071 | NF1 | c.7197T>C (p.Ile2399=) c.1779T>C (p.Ile593=) c.1371T>C (p.Ile457=) n.3860T>C c.265T>C c.7245T>C (p.Ile2415=) c.7215T>C (p.Ile2405=) c.7152T>C (p.Ile2384=) c.6150T>C (p.Ile2050=) c.598T>C c.7351T>C (n.7351T>C) c.358T>C n.457T>C c.7206T>C (p.Ile2402=) c.7182T>C (p.Ile2394=) c.7242T>C (p.Ile2414=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31349145T>G | CA399016703 | NF1 | c.7197T>G (p.Ile2399Met) c.1779T>G (p.Ile593Met) c.1371T>G (p.Ile457Met) n.3860T>G c.265T>G c.7245T>G (p.Ile2415Met) c.7215T>G (p.Ile2405Met) c.7152T>G (p.Ile2384Met) c.6150T>G (p.Ile2050Met) c.598T>G c.7351T>G (n.7351T>G) c.358T>G n.457T>G c.7206T>G (p.Ile2402Met) c.7182T>G (p.Ile2394Met) c.7242T>G (p.Ile2414Met) | |
| 17 | g.31349146G>A | CA399016704 | NF1 | c.7198G>A (p.Val2400Ile) c.1780G>A (p.Val594Ile) c.1372G>A (p.Val458Ile) n.3861G>A c.266G>A c.7246G>A (p.Val2416Ile) c.7216G>A (p.Val2406Ile) c.7153G>A (p.Val2385Ile) c.6151G>A (p.Val2051Ile) c.599G>A c.7352G>A (n.7352G>A) c.359G>A n.458G>A c.7207G>A (p.Val2403Ile) c.7183G>A (p.Val2395Ile) c.7243G>A (p.Val2415Ile) | gnomAD v4 |
| 17 | g.31349146G>C | CA399016705 | NF1 | c.7198G>C (p.Val2400Leu) c.1780G>C (p.Val594Leu) c.1372G>C (p.Val458Leu) n.3861G>C c.266G>C c.7246G>C (p.Val2416Leu) c.7216G>C (p.Val2406Leu) c.7153G>C (p.Val2385Leu) c.6151G>C (p.Val2051Leu) c.599G>C c.7352G>C (n.7352G>C) c.359G>C n.458G>C c.7207G>C (p.Val2403Leu) c.7183G>C (p.Val2395Leu) c.7243G>C (p.Val2415Leu) | dbSNP |
| 17 | g.31349146G>T | CA399016706 | NF1 | c.7198G>T (p.Val2400Phe) c.1780G>T (p.Val594Phe) c.1372G>T (p.Val458Phe) n.3861G>T c.266G>T c.7246G>T (p.Val2416Phe) c.7216G>T (p.Val2406Phe) c.7153G>T (p.Val2385Phe) c.6151G>T (p.Val2051Phe) c.599G>T c.7352G>T (n.7352G>T) c.359G>T n.458G>T c.7207G>T (p.Val2403Phe) c.7183G>T (p.Val2395Phe) c.7243G>T (p.Val2415Phe) | COSMIC COSMIC COSMIC |
| 17 | g.31349147T>A | CA399016707 | NF1 | c.7199T>A (p.Val2400Asp) c.1781T>A (p.Val594Asp) c.1373T>A (p.Val458Asp) n.3862T>A c.267T>A c.7247T>A (p.Val2416Asp) c.7217T>A (p.Val2406Asp) c.7154T>A (p.Val2385Asp) c.6152T>A (p.Val2051Asp) c.600T>A c.7353T>A (n.7353T>A) c.360T>A n.459T>A c.7208T>A (p.Val2403Asp) c.7184T>A (p.Val2395Asp) c.7244T>A (p.Val2415Asp) | dbSNP |
| 17 | g.31349147T>C | CA289400882 | NF1 | c.7199T>C (p.Val2400Ala) c.1781T>C (p.Val594Ala) c.1373T>C (p.Val458Ala) n.3862T>C c.267T>C c.7247T>C (p.Val2416Ala) c.7217T>C (p.Val2406Ala) c.7154T>C (p.Val2385Ala) c.6152T>C (p.Val2051Ala) c.600T>C c.7353T>C (n.7353T>C) c.360T>C n.459T>C c.7208T>C (p.Val2403Ala) c.7184T>C (p.Val2395Ala) c.7244T>C (p.Val2415Ala) | ClinVar dbSNP |
| 17 | g.31349147T>G | CA399016708 | NF1 | c.7199T>G (p.Val2400Gly) c.1781T>G (p.Val594Gly) c.1373T>G (p.Val458Gly) n.3862T>G c.267T>G c.7247T>G (p.Val2416Gly) c.7217T>G (p.Val2406Gly) c.7154T>G (p.Val2385Gly) c.6152T>G (p.Val2051Gly) c.600T>G c.7353T>G (n.7353T>G) c.360T>G n.459T>G c.7208T>G (p.Val2403Gly) c.7184T>G (p.Val2395Gly) c.7244T>G (p.Val2415Gly) | dbSNP |
| 17 | g.31349147T= | CA2255607709 | NF1 | c.7199T= (p.Val2400=) c.1781T= (p.Val594=) c.1373T= (p.Val458=) n.3862T= c.267T= c.7247T= (p.Val2416=) c.7217T= (p.Val2406=) c.7154T= (p.Val2385=) c.6152T= (p.Val2051=) c.600T= c.7353T= (n.7353T=) c.360T= n.459T= c.7208T= (p.Val2403=) c.7184T= (p.Val2395=) c.7244T= (p.Val2415=) | |
| 17 | g.31349148T>A | CA499239072 | NF1 | c.7200T>A (p.Val2400=) c.1782T>A (p.Val594=) c.1374T>A (p.Val458=) n.3863T>A c.268T>A c.7248T>A (p.Val2416=) c.7218T>A (p.Val2406=) c.7155T>A (p.Val2385=) c.6153T>A (p.Val2051=) c.601T>A c.7354T>A (n.7354T>A) c.361T>A n.460T>A c.7209T>A (p.Val2403=) c.7185T>A (p.Val2395=) c.7245T>A (p.Val2415=) | dbSNP |
| 17 | g.31349148T>C | CA499239073 | NF1 | c.7200T>C (p.Val2400=) c.1782T>C (p.Val594=) c.1374T>C (p.Val458=) n.3863T>C c.268T>C c.7248T>C (p.Val2416=) c.7218T>C (p.Val2406=) c.7155T>C (p.Val2385=) c.6153T>C (p.Val2051=) c.601T>C c.7354T>C (n.7354T>C) c.361T>C n.460T>C c.7209T>C (p.Val2403=) c.7185T>C (p.Val2395=) c.7245T>C (p.Val2415=) | ClinVar dbSNP |
| 17 | g.31349148T>G | CA499239074 | NF1 | c.7200T>G (p.Val2400=) c.1782T>G (p.Val594=) c.1374T>G (p.Val458=) n.3863T>G c.268T>G c.7248T>G (p.Val2416=) c.7218T>G (p.Val2406=) c.7155T>G (p.Val2385=) c.6153T>G (p.Val2051=) c.601T>G c.7354T>G (n.7354T>G) c.361T>G n.460T>G c.7209T>G (p.Val2403=) c.7185T>G (p.Val2395=) c.7245T>G (p.Val2415=) | |
| 17 | g.31349148T= | CA2255607710 | NF1 | c.7200T= (p.Val2400=) c.1782T= (p.Val594=) c.1374T= (p.Val458=) n.3863T= c.268T= c.7248T= (p.Val2416=) c.7218T= (p.Val2406=) c.7155T= (p.Val2385=) c.6153T= (p.Val2051=) c.601T= c.7354T= (n.7354T=) c.361T= n.460T= c.7209T= (p.Val2403=) c.7185T= (p.Val2395=) c.7245T= (p.Val2415=) | |
| 17 | g.31349149G>A | CA399016709 | NF1 | c.7201G>A (p.Ala2401Thr) c.1783G>A (p.Ala595Thr) c.1375G>A (p.Ala459Thr) n.3864G>A c.269G>A c.7249G>A (p.Ala2417Thr) c.7219G>A (p.Ala2407Thr) c.7156G>A (p.Ala2386Thr) c.6154G>A (p.Ala2052Thr) c.602G>A c.7355G>A (n.7355G>A) c.362G>A n.461G>A c.7210G>A (p.Ala2404Thr) c.7186G>A (p.Ala2396Thr) c.7246G>A (p.Ala2416Thr) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 17 | g.31349149G>C | CA399016710 | NF1 | c.7201G>C (p.Ala2401Pro) c.1783G>C (p.Ala595Pro) c.1375G>C (p.Ala459Pro) n.3864G>C c.269G>C c.7249G>C (p.Ala2417Pro) c.7219G>C (p.Ala2407Pro) c.7156G>C (p.Ala2386Pro) c.6154G>C (p.Ala2052Pro) c.602G>C c.7355G>C (n.7355G>C) c.362G>C n.461G>C c.7210G>C (p.Ala2404Pro) c.7186G>C (p.Ala2396Pro) c.7246G>C (p.Ala2416Pro) | ClinVar dbSNP |
| 17 | g.31349149G= | CA2255607711 | NF1 | c.7201G= (p.Ala2401=) c.1783G= (p.Ala595=) c.1375G= (p.Ala459=) n.3864G= c.269G= c.7249G= (p.Ala2417=) c.7219G= (p.Ala2407=) c.7156G= (p.Ala2386=) c.6154G= (p.Ala2052=) c.602G= c.7355G= (n.7355G=) c.362G= n.461G= c.7210G= (p.Ala2404=) c.7186G= (p.Ala2396=) c.7246G= (p.Ala2416=) | |
| 17 | g.31349149G>T | CA399016711 | NF1 | c.7201G>T (p.Ala2401Ser) c.1783G>T (p.Ala595Ser) c.1375G>T (p.Ala459Ser) n.3864G>T c.269G>T c.7249G>T (p.Ala2417Ser) c.7219G>T (p.Ala2407Ser) c.7156G>T (p.Ala2386Ser) c.6154G>T (p.Ala2052Ser) c.602G>T c.7355G>T (n.7355G>T) c.362G>T n.461G>T c.7210G>T (p.Ala2404Ser) c.7186G>T (p.Ala2396Ser) c.7246G>T (p.Ala2416Ser) | |
| 17 | g.31349150C>A | CA399016712 | NF1 | c.7202C>A (p.Ala2401Glu) c.1784C>A (p.Ala595Glu) c.1376C>A (p.Ala459Glu) n.3865C>A c.270C>A c.7250C>A (p.Ala2417Glu) c.7220C>A (p.Ala2407Glu) c.7157C>A (p.Ala2386Glu) c.6155C>A (p.Ala2052Glu) c.603C>A c.7356C>A (n.7356C>A) c.363C>A n.462C>A c.7211C>A (p.Ala2404Glu) c.7187C>A (p.Ala2396Glu) c.7247C>A (p.Ala2416Glu) | |
| 17 | g.31349150C>G | CA399016713 | NF1 | c.7202C>G (p.Ala2401Gly) c.1784C>G (p.Ala595Gly) c.1376C>G (p.Ala459Gly) n.3865C>G c.270C>G c.7250C>G (p.Ala2417Gly) c.7220C>G (p.Ala2407Gly) c.7157C>G (p.Ala2386Gly) c.6155C>G (p.Ala2052Gly) c.603C>G c.7356C>G (n.7356C>G) c.363C>G n.462C>G c.7211C>G (p.Ala2404Gly) c.7187C>G (p.Ala2396Gly) c.7247C>G (p.Ala2416Gly) | ClinVar dbSNP |
| 17 | g.31349150C>T | CA399016714 | NF1 | c.7202C>T (p.Ala2401Val) c.1784C>T (p.Ala595Val) c.1376C>T (p.Ala459Val) n.3865C>T c.270C>T c.7250C>T (p.Ala2417Val) c.7220C>T (p.Ala2407Val) c.7157C>T (p.Ala2386Val) c.6155C>T (p.Ala2052Val) c.603C>T c.7356C>T (n.7356C>T) c.363C>T n.462C>T c.7211C>T (p.Ala2404Val) c.7187C>T (p.Ala2396Val) c.7247C>T (p.Ala2416Val) | dbSNP |
| 17 | g.31349150dup | CA2255607712 | NF1 | c.7202dup (p.Arg2402LysfsTer14) c.1784dup (p.Arg596LysfsTer14) c.1376dup (p.Arg460LysfsTer14) n.3865dup c.270dup c.7250dup (p.Arg2418LysfsTer14) c.7220dup (p.Arg2408LysfsTer14) c.7157dup (p.Arg2387LysfsTer14) c.6155dup (p.Arg2053LysfsTer14) c.603dup c.7356dup (n.7356dup) c.363dup c.7211dup (p.Arg2405LysfsTer14) c.7187dup (p.Arg2397LysfsTer14) c.7247dup (p.Arg2417LysfsTer14) | dbSNP |
| 17 | g.31349151A>C | CA499239075 | NF1 | c.7203A>C (p.Ala2401=) c.1785A>C (p.Ala595=) c.1377A>C (p.Ala459=) n.3866A>C c.271A>C c.7251A>C (p.Ala2417=) c.7221A>C (p.Ala2407=) c.7158A>C (p.Ala2386=) c.6156A>C (p.Ala2052=) c.604A>C c.7357A>C (n.7357A>C) c.364A>C c.7212A>C (p.Ala2404=) c.7188A>C (p.Ala2396=) c.7248A>C (p.Ala2416=) | |
| 17 | g.31349151A>G | CA499239076 | NF1 | c.7203A>G (p.Ala2401=) c.1785A>G (p.Ala595=) c.1377A>G (p.Ala459=) n.3866A>G c.271A>G c.7251A>G (p.Ala2417=) c.7221A>G (p.Ala2407=) c.7158A>G (p.Ala2386=) c.6156A>G (p.Ala2052=) c.604A>G c.7357A>G (n.7357A>G) c.364A>G c.7212A>G (p.Ala2404=) c.7188A>G (p.Ala2396=) c.7248A>G (p.Ala2416=) | ClinVar |
| 17 | g.31349151A>T | CA499239077 | NF1 | c.7203A>T (p.Ala2401=) c.1785A>T (p.Ala595=) c.1377A>T (p.Ala459=) n.3866A>T c.271A>T c.7251A>T (p.Ala2417=) c.7221A>T (p.Ala2407=) c.7158A>T (p.Ala2386=) c.6156A>T (p.Ala2052=) c.604A>T c.7357A>T (n.7357A>T) c.364A>T c.7212A>T (p.Ala2404=) c.7188A>T (p.Ala2396=) c.7248A>T (p.Ala2416=) | |
| 17 | g.31349152A= | CA2255607713 | NF1 | c.7204A= (p.Arg2402=) c.1786A= (p.Arg596=) c.1378A= (p.Arg460=) n.3867A= c.272A= c.7252A= (p.Arg2418=) c.7222A= (p.Arg2408=) c.7159A= (p.Arg2387=) c.6157A= (p.Arg2053=) c.605A= c.7358A= (n.7358A=) c.365A= c.7213A= (p.Arg2405=) c.7189A= (p.Arg2397=) c.7249A= (p.Arg2417=) | |
| 17 | g.31349152A>C | CA499239078 | NF1 | c.7204A>C (p.Arg2402=) c.1786A>C (p.Arg596=) c.1378A>C (p.Arg460=) n.3867A>C c.272A>C c.7252A>C (p.Arg2418=) c.7222A>C (p.Arg2408=) c.7159A>C (p.Arg2387=) c.6157A>C (p.Arg2053=) c.605A>C c.7358A>C (n.7358A>C) c.365A>C c.7213A>C (p.Arg2405=) c.7189A>C (p.Arg2397=) c.7249A>C (p.Arg2417=) | gnomAD v4 |
| 17 | g.31349152A>G | CA399016716 | NF1 | c.7204A>G (p.Arg2402Gly) c.1786A>G (p.Arg596Gly) c.1378A>G (p.Arg460Gly) n.3867A>G c.272A>G c.7252A>G (p.Arg2418Gly) c.7222A>G (p.Arg2408Gly) c.7159A>G (p.Arg2387Gly) c.6157A>G (p.Arg2053Gly) c.605A>G c.7358A>G (n.7358A>G) c.365A>G c.7213A>G (p.Arg2405Gly) c.7189A>G (p.Arg2397Gly) c.7249A>G (p.Arg2417Gly) | ClinVar dbSNP |
| 17 | g.31349152A>T | CA399016715 | NF1 | c.7204A>T (p.Arg2402Ter) c.1786A>T (p.Arg596Ter) c.1378A>T (p.Arg460Ter) n.3867A>T c.272A>T c.7252A>T (p.Arg2418Ter) c.7222A>T (p.Arg2408Ter) c.7159A>T (p.Arg2387Ter) c.6157A>T (p.Arg2053Ter) c.605A>T c.7358A>T (n.7358A>T) c.365A>T c.7213A>T (p.Arg2405Ter) c.7189A>T (p.Arg2397Ter) c.7249A>T (p.Arg2417Ter) | dbSNP |
| 17 | g.31349153del | CA2695225464 | NF1 | c.7205del (p.Arg2402LysfsTer10) c.1787del (p.Arg596LysfsTer10) c.1379del (p.Arg460LysfsTer10) n.3868del c.273del c.7253del (p.Arg2418LysfsTer10) c.7223del (p.Arg2408LysfsTer10) c.7160del (p.Arg2387LysfsTer10) c.6158del (p.Arg2053LysfsTer10) c.606del c.7359del (n.7359del) c.366del c.7214del (p.Arg2405LysfsTer10) c.7190del (p.Arg2397LysfsTer10) c.7250del (p.Arg2417LysfsTer10) | |
| 17 | g.31349153G>A | CA399016717 | NF1 | c.7205G>A (p.Arg2402Lys) c.1787G>A (p.Arg596Lys) c.1379G>A (p.Arg460Lys) n.3868G>A c.273G>A c.7253G>A (p.Arg2418Lys) c.7223G>A (p.Arg2408Lys) c.7160G>A (p.Arg2387Lys) c.6158G>A (p.Arg2053Lys) c.606G>A c.7359G>A (n.7359G>A) c.366G>A c.7214G>A (p.Arg2405Lys) c.7190G>A (p.Arg2397Lys) c.7250G>A (p.Arg2417Lys) | ClinVar dbSNP |
| 17 | g.31349153G>C | CA399016718 | NF1 | c.7205G>C (p.Arg2402Thr) c.1787G>C (p.Arg596Thr) c.1379G>C (p.Arg460Thr) n.3868G>C c.273G>C c.7253G>C (p.Arg2418Thr) c.7223G>C (p.Arg2408Thr) c.7160G>C (p.Arg2387Thr) c.6158G>C (p.Arg2053Thr) c.606G>C c.7359G>C (n.7359G>C) c.366G>C c.7214G>C (p.Arg2405Thr) c.7190G>C (p.Arg2397Thr) c.7250G>C (p.Arg2417Thr) | dbSNP |
| 17 | g.31349153G= | CA2255607714 | NF1 | c.7205G= (p.Arg2402=) c.1787G= (p.Arg596=) c.1379G= (p.Arg460=) n.3868G= c.273G= c.7253G= (p.Arg2418=) c.7223G= (p.Arg2408=) c.7160G= (p.Arg2387=) c.6158G= (p.Arg2053=) c.606G= c.7359G= (n.7359G=) c.366G= c.7214G= (p.Arg2405=) c.7190G= (p.Arg2397=) c.7250G= (p.Arg2417=) | |
| 17 | g.31349153G>T | CA399016719 | NF1 | c.7205G>T (p.Arg2402Ile) c.1787G>T (p.Arg596Ile) c.1379G>T (p.Arg460Ile) n.3868G>T c.273G>T c.7253G>T (p.Arg2418Ile) c.7223G>T (p.Arg2408Ile) c.7160G>T (p.Arg2387Ile) c.6158G>T (p.Arg2053Ile) c.606G>T c.7359G>T (n.7359G>T) c.366G>T c.7214G>T (p.Arg2405Ile) c.7190G>T (p.Arg2397Ile) c.7250G>T (p.Arg2417Ile) | gnomAD v4 |
| 17 | g.31349154A>C | CA399016720 | NF1 | c.7206A>C (p.Arg2402Ser) c.1788A>C (p.Arg596Ser) c.1380A>C (p.Arg460Ser) n.3869A>C c.274A>C c.7254A>C (p.Arg2418Ser) c.7224A>C (p.Arg2408Ser) c.7161A>C (p.Arg2387Ser) c.6159A>C (p.Arg2053Ser) c.607A>C c.7360A>C (n.7360A>C) c.367A>C c.7215A>C (p.Arg2405Ser) c.7191A>C (p.Arg2397Ser) c.7251A>C (p.Arg2417Ser) | |
| 17 | g.31349154A>G | CA499239079 | NF1 | c.7206A>G (p.Arg2402=) c.1788A>G (p.Arg596=) c.1380A>G (p.Arg460=) n.3869A>G c.274A>G c.7254A>G (p.Arg2418=) c.7224A>G (p.Arg2408=) c.7161A>G (p.Arg2387=) c.6159A>G (p.Arg2053=) c.607A>G c.7360A>G (n.7360A>G) c.367A>G c.7215A>G (p.Arg2405=) c.7191A>G (p.Arg2397=) c.7251A>G (p.Arg2417=) | |
| 17 | g.31349154A>T | CA399016721 | NF1 | c.7206A>T (p.Arg2402Ser) c.1788A>T (p.Arg596Ser) c.1380A>T (p.Arg460Ser) n.3869A>T c.274A>T c.7254A>T (p.Arg2418Ser) c.7224A>T (p.Arg2408Ser) c.7161A>T (p.Arg2387Ser) c.6159A>T (p.Arg2053Ser) c.607A>T c.7360A>T (n.7360A>T) c.367A>T c.7215A>T (p.Arg2405Ser) c.7191A>T (p.Arg2397Ser) c.7251A>T (p.Arg2417Ser) | |
| 17 | g.31349155A= | CA2255607715 | NF1 | c.7207A= (p.Thr2403=) c.1789A= (p.Thr597=) c.1381A= (p.Thr461=) n.3870A= c.275A= c.7255A= (p.Thr2419=) c.7225A= (p.Thr2409=) c.7162A= (p.Thr2388=) c.6160A= (p.Thr2054=) c.608A= c.7361A= (n.7361A=) c.368A= c.7216A= (p.Thr2406=) c.7192A= (p.Thr2398=) c.7252A= (p.Thr2418=) | |
| 17 | g.31349155A>C | CA399016722 | NF1 | c.7207A>C (p.Thr2403Pro) c.1789A>C (p.Thr597Pro) c.1381A>C (p.Thr461Pro) n.3870A>C c.275A>C c.7255A>C (p.Thr2419Pro) c.7225A>C (p.Thr2409Pro) c.7162A>C (p.Thr2388Pro) c.6160A>C (p.Thr2054Pro) c.608A>C c.7361A>C (n.7361A>C) c.368A>C c.7216A>C (p.Thr2406Pro) c.7192A>C (p.Thr2398Pro) c.7252A>C (p.Thr2418Pro) | dbSNP |
| 17 | g.31349155A>G | CA399016723 | NF1 | c.7207A>G (p.Thr2403Ala) c.1789A>G (p.Thr597Ala) c.1381A>G (p.Thr461Ala) n.3870A>G c.275A>G c.7255A>G (p.Thr2419Ala) c.7225A>G (p.Thr2409Ala) c.7162A>G (p.Thr2388Ala) c.6160A>G (p.Thr2054Ala) c.608A>G c.7361A>G (n.7361A>G) c.368A>G c.7216A>G (p.Thr2406Ala) c.7192A>G (p.Thr2398Ala) c.7252A>G (p.Thr2418Ala) | ClinVar dbSNP |
| 17 | g.31349155A>T | CA399016724 | NF1 | c.7207A>T (p.Thr2403Ser) c.1789A>T (p.Thr597Ser) c.1381A>T (p.Thr461Ser) n.3870A>T c.275A>T c.7255A>T (p.Thr2419Ser) c.7225A>T (p.Thr2409Ser) c.7162A>T (p.Thr2388Ser) c.6160A>T (p.Thr2054Ser) c.608A>T c.7361A>T (n.7361A>T) c.368A>T c.7216A>T (p.Thr2406Ser) c.7192A>T (p.Thr2398Ser) c.7252A>T (p.Thr2418Ser) | dbSNP |
| 17 | g.31349156_31349157del | CA2637077378 | NF1 | c.7208_7209del (p.Thr2403SerfsTer12) c.1790_1791del (p.Thr597SerfsTer12) c.1382_1383del (p.Thr461SerfsTer12) n.3871_3872del c.276_277del c.7256_7257del (p.Thr2419SerfsTer12) c.7226_7227del (p.Thr2409SerfsTer12) c.7163_7164del (p.Thr2388SerfsTer12) c.6161_6162del (p.Thr2054SerfsTer12) c.609_610del c.7362_7363del (n.7362_7363del) c.369_370del c.7217_7218del (p.Thr2406SerfsTer12) c.7193_7194del (p.Thr2398SerfsTer12) c.7253_7254del (p.Thr2418SerfsTer12) | gnomAD v4 |
| 17 | g.31349156del | CA2499224219 | NF1 | c.7208del (p.Thr2403LysfsTer9) c.1790del (p.Thr597LysfsTer9) c.1382del (p.Thr461LysfsTer9) n.3871del c.276del c.7256del (p.Thr2419LysfsTer9) c.7226del (p.Thr2409LysfsTer9) c.7163del (p.Thr2388LysfsTer9) c.6161del (p.Thr2054LysfsTer9) c.609del c.7362del (n.7362del) c.369del c.7217del (p.Thr2406LysfsTer9) c.7193del (p.Thr2398LysfsTer9) c.7253del (p.Thr2418LysfsTer9) | ClinVar dbSNP |
| 17 | g.31349156C>A | CA399016725 | NF1 | c.7208C>A (p.Thr2403Lys) c.1790C>A (p.Thr597Lys) c.1382C>A (p.Thr461Lys) n.3871C>A c.276C>A c.7256C>A (p.Thr2419Lys) c.7226C>A (p.Thr2409Lys) c.7163C>A (p.Thr2388Lys) c.6161C>A (p.Thr2054Lys) c.609C>A c.7362C>A (n.7362C>A) c.369C>A c.7217C>A (p.Thr2406Lys) c.7193C>A (p.Thr2398Lys) c.7253C>A (p.Thr2418Lys) | gnomAD v4 |