Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.31337447_31338975del | CA1139665448 | NF1 | c.6489_6903+170del c.1071_1485+170del n.1385_2913del c.663_1077+170del n.3152_3566+170del c.6537_6951+170del c.6507_6921+170del c.6444_6858+170del c.5442_5856+170del c.6643_7057+170del c.6498_6912+170del c.6474_6888+170del c.6534_6948+170del | ClinVar |
17 | g.31338733_31338754del | CA2695225181 | NF1 | c.6831_6852del (p.Asp2277GlufsTer2) c.1413_1434del (p.Asp471GlufsTer2) n.2671_2692del c.1005_1026del (p.Asp335GlufsTer2) n.3494_3515del c.6879_6900del (p.Asp2293GlufsTer2) c.6849_6870del (p.Asp2283GlufsTer2) c.6786_6807del (p.Asp2262GlufsTer2) c.5784_5805del (p.Asp1928GlufsTer2) c.232_253del c.6985_7006del (n.6985_7006del) c.64+853_64+874del n.263_284del c.6840_6861del (p.Asp2280GlufsTer2) c.6816_6837del (p.Asp2272GlufsTer2) c.6876_6897del (p.Asp2292GlufsTer2) | |
17 | g.31338736_31338739del | CA336456 | NF1 | c.6834_6837del (p.Tyr2279ThrfsTer5) c.1416_1419del (p.Tyr473ThrfsTer5) n.2674_2677del c.1008_1011del (p.Tyr337ThrfsTer5) n.3497_3500del c.6882_6885del (p.Tyr2295ThrfsTer5) c.6852_6855del (p.Tyr2285ThrfsTer5) c.6789_6792del (p.Tyr2264ThrfsTer5) c.5787_5790del (p.Tyr1930ThrfsTer5) c.235_238del c.6988_6991del (n.6988_6991del) c.64+856_64+859del n.266_269del c.6843_6846del (p.Tyr2282ThrfsTer5) c.6819_6822del (p.Tyr2274ThrfsTer5) c.6879_6882del (p.Tyr2294ThrfsTer5) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.31338737_31338753del | CA645572249 | NF1 | c.6835_6851del (p.Tyr2279AspfsTer16) c.1417_1433del (p.Tyr473AspfsTer16) n.2675_2691del c.1009_1025del (p.Tyr337AspfsTer16) n.3498_3514del c.6883_6899del (p.Tyr2295AspfsTer16) c.6853_6869del (p.Tyr2285AspfsTer16) c.6790_6806del (p.Tyr2264AspfsTer16) c.5788_5804del (p.Tyr1930AspfsTer16) c.236_252del c.6989_7005del (n.6989_7005del) c.64+857_64+873del n.267_283del c.6844_6860del (p.Tyr2282AspfsTer16) c.6820_6836del (p.Tyr2274AspfsTer16) c.6880_6896del (p.Tyr2294AspfsTer16) | COSMIC |
17 | g.31338738_31338739delinsAC | CA2255603133 | NF1 | c.6836_6837delinsAC (p.Tyr2279=) c.1418_1419delinsAC (p.Tyr473=) n.2676_2677delinsAC c.1010_1011delinsAC (p.Tyr337=) n.3499_3500delinsAC c.6884_6885delinsAC (p.Tyr2295=) c.6854_6855delinsAC (p.Tyr2285=) c.6791_6792delinsAC (p.Tyr2264=) c.5789_5790delinsAC (p.Tyr1930=) c.237_238delinsAC c.6990_6991delinsAC (n.6990_6991delinsAC) c.64+858_64+859delinsAC n.268_269delinsAC c.6845_6846delinsAC (p.Tyr2282=) c.6821_6822delinsAC (p.Tyr2274=) c.6881_6882delinsAC (p.Tyr2294=) | |
17 | g.31338741_31338743del | CA2580614074 | NF1 | c.6839_6841del (p.Asn2280del) c.1421_1423del (p.Asn474del) n.2679_2681del c.1013_1015del (p.Asn338del) n.3502_3504del c.6887_6889del (p.Asn2296del) c.6857_6859del (p.Asn2286del) c.6794_6796del (p.Asn2265del) c.5792_5794del (p.Asn1931del) c.240_242del c.6993_6995del (n.6993_6995del) c.64+861_64+863del n.271_273del c.6848_6850del (p.Asn2283del) c.6824_6826del (p.Asn2275del) c.6884_6886del (p.Asn2295del) | ClinVar |
17 | g.31338739del | CA658658591 | NF1 | c.6837del (p.Tyr2279Ter) c.1419del (p.Tyr473Ter) n.2677del c.1011del (p.Tyr337Ter) n.3500del c.6885del (p.Tyr2295Ter) c.6855del (p.Tyr2285Ter) c.6792del (p.Tyr2264Ter) c.5790del (p.Tyr1930Ter) c.238del c.6991del (n.6991del) c.64+859del n.269del c.6846del (p.Tyr2282Ter) c.6822del (p.Tyr2274Ter) c.6882del (p.Tyr2294Ter) | ClinVar dbSNP |
17 | g.31338739C>A | CA190957 | NF1 | c.6837C>A (p.Tyr2279Ter) c.1419C>A (p.Tyr473Ter) n.2677C>A c.1011C>A (p.Tyr337Ter) n.3500C>A c.6885C>A (p.Tyr2295Ter) c.6855C>A (p.Tyr2285Ter) c.6792C>A (p.Tyr2264Ter) c.5790C>A (p.Tyr1930Ter) c.238C>A c.6991C>A (n.6991C>A) c.64+859C>A n.269C>A c.6846C>A (p.Tyr2282Ter) c.6822C>A (p.Tyr2274Ter) c.6882C>A (p.Tyr2294Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.31338739C= | CA2255603134 | NF1 | c.6837C= (p.Tyr2279=) c.1419C= (p.Tyr473=) n.2677C= c.1011C= (p.Tyr337=) n.3500C= c.6885C= (p.Tyr2295=) c.6855C= (p.Tyr2285=) c.6792C= (p.Tyr2264=) c.5790C= (p.Tyr1930=) c.238C= c.6991C= (n.6991C=) c.64+859C= n.269C= c.6846C= (p.Tyr2282=) c.6822C= (p.Tyr2274=) c.6882C= (p.Tyr2294=) | |
17 | g.31338739C>G | CA8487442 | NF1 | c.6837C>G (p.Tyr2279Ter) c.1419C>G (p.Tyr473Ter) n.2677C>G c.1011C>G (p.Tyr337Ter) n.3500C>G c.6885C>G (p.Tyr2295Ter) c.6855C>G (p.Tyr2285Ter) c.6792C>G (p.Tyr2264Ter) c.5790C>G (p.Tyr1930Ter) c.238C>G c.6991C>G (n.6991C>G) c.64+859C>G n.269C>G c.6846C>G (p.Tyr2282Ter) c.6822C>G (p.Tyr2274Ter) c.6882C>G (p.Tyr2294Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.31338739C>T | CA499234341 | NF1 | c.6837C>T (p.Tyr2279=) c.1419C>T (p.Tyr473=) n.2677C>T c.1011C>T (p.Tyr337=) n.3500C>T c.6885C>T (p.Tyr2295=) c.6855C>T (p.Tyr2285=) c.6792C>T (p.Tyr2264=) c.5790C>T (p.Tyr1930=) c.238C>T c.6991C>T (n.6991C>T) c.64+859C>T n.269C>T c.6846C>T (p.Tyr2282=) c.6822C>T (p.Tyr2274=) c.6882C>T (p.Tyr2294=) | ClinVar dbSNP gnomAD v4 |
17 | g.31338739dup | CA658824589 | NF1 | c.6837dup (p.Asn2280GlnfsTer21) c.1419dup (p.Asn474GlnfsTer21) n.2677dup c.1011dup (p.Asn338GlnfsTer21) n.3500dup c.6885dup (p.Asn2296GlnfsTer21) c.6855dup (p.Asn2286GlnfsTer21) c.6792dup (p.Asn2265GlnfsTer21) c.5790dup (p.Asn1931GlnfsTer21) c.238dup c.6991dup (n.6991dup) c.64+859dup n.269dup c.6846dup (p.Asn2283GlnfsTer21) c.6822dup (p.Asn2275GlnfsTer21) c.6882dup (p.Asn2295GlnfsTer21) | ClinVar dbSNP |
17 | g.31338740A>C | CA399014318 | NF1 | c.6838A>C (p.Asn2280His) c.1420A>C (p.Asn474His) n.2678A>C c.1012A>C (p.Asn338His) n.3501A>C c.6886A>C (p.Asn2296His) c.6856A>C (p.Asn2286His) c.6793A>C (p.Asn2265His) c.5791A>C (p.Asn1931His) c.239A>C c.6992A>C (n.6992A>C) c.64+860A>C n.270A>C c.6847A>C (p.Asn2283His) c.6823A>C (p.Asn2275His) c.6883A>C (p.Asn2295His) | ClinVar |
17 | g.31338740A>G | CA399014319 | NF1 | c.6838A>G (p.Asn2280Asp) c.1420A>G (p.Asn474Asp) n.2678A>G c.1012A>G (p.Asn338Asp) n.3501A>G c.6886A>G (p.Asn2296Asp) c.6856A>G (p.Asn2286Asp) c.6793A>G (p.Asn2265Asp) c.5791A>G (p.Asn1931Asp) c.239A>G c.6992A>G (n.6992A>G) c.64+860A>G n.270A>G c.6847A>G (p.Asn2283Asp) c.6823A>G (p.Asn2275Asp) c.6883A>G (p.Asn2295Asp) | |
17 | g.31338740A>T | CA399014317 | NF1 | c.6838A>T (p.Asn2280Tyr) c.1420A>T (p.Asn474Tyr) n.2678A>T c.1012A>T (p.Asn338Tyr) n.3501A>T c.6886A>T (p.Asn2296Tyr) c.6856A>T (p.Asn2286Tyr) c.6793A>T (p.Asn2265Tyr) c.5791A>T (p.Asn1931Tyr) c.239A>T c.6992A>T (n.6992A>T) c.64+860A>T n.270A>T c.6847A>T (p.Asn2283Tyr) c.6823A>T (p.Asn2275Tyr) c.6883A>T (p.Asn2295Tyr) | gnomAD v4 |
17 | g.31338741dup | CA2695225183 | NF1 | c.6839dup (p.Asn2280LysfsTer21) c.1421dup (p.Asn474LysfsTer21) n.2679dup c.1013dup (p.Asn338LysfsTer21) n.3502dup c.6887dup (p.Asn2296LysfsTer21) c.6857dup (p.Asn2286LysfsTer21) c.6794dup (p.Asn2265LysfsTer21) c.5792dup (p.Asn1931LysfsTer21) c.240dup c.6993dup (n.6993dup) c.64+861dup n.271dup c.6848dup (p.Asn2283LysfsTer21) c.6824dup (p.Asn2275LysfsTer21) c.6884dup (p.Asn2295LysfsTer21) | |
17 | g.31338740_31338742delinsAAC | CA2255603135 | NF1 | c.6838_6840delinsAAC (p.Asn2280=) c.1420_1422delinsAAC (p.Asn474=) n.2678_2680delinsAAC c.1012_1014delinsAAC (p.Asn338=) n.3501_3503delinsAAC c.6886_6888delinsAAC (p.Asn2296=) c.6856_6858delinsAAC (p.Asn2286=) c.6793_6795delinsAAC (p.Asn2265=) c.5791_5793delinsAAC (p.Asn1931=) c.239_241delinsAAC c.6992_6994delinsAAC (n.6992_6994delinsAAC) c.64+860_64+862delinsAAC n.270_272delinsAAC c.6847_6849delinsAAC (p.Asn2283=) c.6823_6825delinsAAC (p.Asn2275=) c.6883_6885delinsAAC (p.Asn2295=) | |
17 | g.31338741A>C | CA399014320 | NF1 | c.6839A>C (p.Asn2280Thr) c.1421A>C (p.Asn474Thr) n.2679A>C c.1013A>C (p.Asn338Thr) n.3502A>C c.6887A>C (p.Asn2296Thr) c.6857A>C (p.Asn2286Thr) c.6794A>C (p.Asn2265Thr) c.5792A>C (p.Asn1931Thr) c.240A>C c.6993A>C (n.6993A>C) c.64+861A>C n.271A>C c.6848A>C (p.Asn2283Thr) c.6824A>C (p.Asn2275Thr) c.6884A>C (p.Asn2295Thr) | dbSNP |
17 | g.31338741A>G | CA399014321 | NF1 | c.6839A>G (p.Asn2280Ser) c.1421A>G (p.Asn474Ser) n.2679A>G c.1013A>G (p.Asn338Ser) n.3502A>G c.6887A>G (p.Asn2296Ser) c.6857A>G (p.Asn2286Ser) c.6794A>G (p.Asn2265Ser) c.5792A>G (p.Asn1931Ser) c.240A>G c.6993A>G (n.6993A>G) c.64+861A>G n.271A>G c.6848A>G (p.Asn2283Ser) c.6824A>G (p.Asn2275Ser) c.6884A>G (p.Asn2295Ser) | gnomAD v4 |
17 | g.31338741A>T | CA399014322 | NF1 | c.6839A>T (p.Asn2280Ile) c.1421A>T (p.Asn474Ile) n.2679A>T c.1013A>T (p.Asn338Ile) n.3502A>T c.6887A>T (p.Asn2296Ile) c.6857A>T (p.Asn2286Ile) c.6794A>T (p.Asn2265Ile) c.5792A>T (p.Asn1931Ile) c.240A>T c.6993A>T (n.6993A>T) c.64+861A>T n.271A>T c.6848A>T (p.Asn2283Ile) c.6824A>T (p.Asn2275Ile) c.6884A>T (p.Asn2295Ile) | dbSNP |
17 | g.31338742_31338743del | CA658658592 | NF1 | c.6840_6841del (p.Asn2280LysfsTer20) c.1422_1423del (p.Asn474LysfsTer20) n.2680_2681del c.1014_1015del (p.Asn338LysfsTer20) n.3503_3504del c.6888_6889del (p.Asn2296LysfsTer20) c.6858_6859del (p.Asn2286LysfsTer20) c.6795_6796del (p.Asn2265LysfsTer20) c.5793_5794del (p.Asn1931LysfsTer20) c.241_242del c.6994_6995del (n.6994_6995del) c.64+862_64+863del n.272_273del c.6849_6850del (p.Asn2283LysfsTer20) c.6825_6826del (p.Asn2275LysfsTer20) c.6885_6886del (p.Asn2295LysfsTer20) | ClinVar dbSNP |
17 | g.31338742C>A | CA399014323 | NF1 | c.6840C>A (p.Asn2280Lys) c.1422C>A (p.Asn474Lys) n.2680C>A c.1014C>A (p.Asn338Lys) n.3503C>A c.6888C>A (p.Asn2296Lys) c.6858C>A (p.Asn2286Lys) c.6795C>A (p.Asn2265Lys) c.5793C>A (p.Asn1931Lys) c.241C>A c.6994C>A (n.6994C>A) c.64+862C>A n.272C>A c.6849C>A (p.Asn2283Lys) c.6825C>A (p.Asn2275Lys) c.6885C>A (p.Asn2295Lys) | |
17 | g.31338742C= | CA2255603136 | NF1 | c.6840C= (p.Asn2280=) c.1422C= (p.Asn474=) n.2680C= c.1014C= (p.Asn338=) n.3503C= c.6888C= (p.Asn2296=) c.6858C= (p.Asn2286=) c.6795C= (p.Asn2265=) c.5793C= (p.Asn1931=) c.241C= c.6994C= (n.6994C=) c.64+862C= n.272C= c.6849C= (p.Asn2283=) c.6825C= (p.Asn2275=) c.6885C= (p.Asn2295=) | |
17 | g.31338742C>G | CA399014324 | NF1 | c.6840C>G (p.Asn2280Lys) c.1422C>G (p.Asn474Lys) n.2680C>G c.1014C>G (p.Asn338Lys) n.3503C>G c.6888C>G (p.Asn2296Lys) c.6858C>G (p.Asn2286Lys) c.6795C>G (p.Asn2265Lys) c.5793C>G (p.Asn1931Lys) c.241C>G c.6994C>G (n.6994C>G) c.64+862C>G n.272C>G c.6849C>G (p.Asn2283Lys) c.6825C>G (p.Asn2275Lys) c.6885C>G (p.Asn2295Lys) | ClinVar dbSNP |
17 | g.31338742C>T | CA499234342 | NF1 | c.6840C>T (p.Asn2280=) c.1422C>T (p.Asn474=) n.2680C>T c.1014C>T (p.Asn338=) n.3503C>T c.6888C>T (p.Asn2296=) c.6858C>T (p.Asn2286=) c.6795C>T (p.Asn2265=) c.5793C>T (p.Asn1931=) c.241C>T c.6994C>T (n.6994C>T) c.64+862C>T n.272C>T c.6849C>T (p.Asn2283=) c.6825C>T (p.Asn2275=) c.6885C>T (p.Asn2295=) | ClinVar dbSNP gnomAD v4 |
17 | g.31338742dup | CA2695225184 | NF1 | c.6840dup (p.Ser2281GlnfsTer20) c.1422dup (p.Ser475GlnfsTer20) n.2680dup c.1014dup (p.Ser339GlnfsTer20) n.3503dup c.6888dup (p.Ser2297GlnfsTer20) c.6858dup (p.Ser2287GlnfsTer20) c.6795dup (p.Ser2266GlnfsTer20) c.5793dup (p.Ser1932GlnfsTer20) c.241dup c.6994dup (n.6994dup) c.64+862dup n.272dup c.6849dup (p.Ser2284GlnfsTer20) c.6825dup (p.Ser2276GlnfsTer20) c.6885dup (p.Ser2296GlnfsTer20) | |
17 | g.31338742_31338743delinsCA | CA2255603137 | NF1 | c.6840_6841delinsCA (p.Asn2280=) c.1422_1423delinsCA (p.Asn474=) n.2680_2681delinsCA c.1014_1015delinsCA (p.Asn338=) n.3503_3504delinsCA c.6888_6889delinsCA (p.Asn2296=) c.6858_6859delinsCA (p.Asn2286=) c.6795_6796delinsCA (p.Asn2265=) c.5793_5794delinsCA (p.Asn1931=) c.241_242delinsCA c.6994_6995delinsCA (n.6994_6995delinsCA) c.64+862_64+863delinsCA n.272_273delinsCA c.6849_6850delinsCA (p.Asn2283=) c.6825_6826delinsCA (p.Asn2275=) c.6885_6886delinsCA (p.Asn2295=) | |
17 | g.31338743del | CA728026808 | NF1 | c.6841del (p.Ser2281ValfsTer4) c.1423del (p.Ser475ValfsTer4) n.2681del c.1015del (p.Ser339ValfsTer4) n.3504del c.6889del (p.Ser2297ValfsTer4) c.6859del (p.Ser2287ValfsTer4) c.6796del (p.Ser2266ValfsTer4) c.5794del (p.Ser1932ValfsTer4) c.242del c.6995del (n.6995del) c.64+863del n.273del c.6850del (p.Ser2284ValfsTer4) c.6826del (p.Ser2276ValfsTer4) c.6886del (p.Ser2296ValfsTer4) | dbSNP |
17 | g.31338743A>C | CA399014327 | NF1 | c.6841A>C (p.Ser2281Arg) c.1423A>C (p.Ser475Arg) n.2681A>C c.1015A>C (p.Ser339Arg) n.3504A>C c.6889A>C (p.Ser2297Arg) c.6859A>C (p.Ser2287Arg) c.6796A>C (p.Ser2266Arg) c.5794A>C (p.Ser1932Arg) c.242A>C c.6995A>C (n.6995A>C) c.64+863A>C n.273A>C c.6850A>C (p.Ser2284Arg) c.6826A>C (p.Ser2276Arg) c.6886A>C (p.Ser2296Arg) | |
17 | g.31338743A>G | CA399014325 | NF1 | c.6841A>G (p.Ser2281Gly) c.1423A>G (p.Ser475Gly) n.2681A>G c.1015A>G (p.Ser339Gly) n.3504A>G c.6889A>G (p.Ser2297Gly) c.6859A>G (p.Ser2287Gly) c.6796A>G (p.Ser2266Gly) c.5794A>G (p.Ser1932Gly) c.242A>G c.6995A>G (n.6995A>G) c.64+863A>G n.273A>G c.6850A>G (p.Ser2284Gly) c.6826A>G (p.Ser2276Gly) c.6886A>G (p.Ser2296Gly) | |
17 | g.31338743A>T | CA399014326 | NF1 | c.6841A>T (p.Ser2281Cys) c.1423A>T (p.Ser475Cys) n.2681A>T c.1015A>T (p.Ser339Cys) n.3504A>T c.6889A>T (p.Ser2297Cys) c.6859A>T (p.Ser2287Cys) c.6796A>T (p.Ser2266Cys) c.5794A>T (p.Ser1932Cys) c.242A>T c.6995A>T (n.6995A>T) c.64+863A>T n.273A>T c.6850A>T (p.Ser2284Cys) c.6826A>T (p.Ser2276Cys) c.6886A>T (p.Ser2296Cys) | |
17 | g.31338746_31338750dup | CA2255603138 | NF1 | c.6844_6848dup (p.Leu2284LysfsTer3) c.1426_1430dup (p.Leu478LysfsTer3) n.2684_2688dup c.1018_1022dup (p.Leu342LysfsTer3) n.3507_3511dup c.6892_6896dup (p.Leu2300LysfsTer3) c.6862_6866dup (p.Leu2290LysfsTer3) c.6799_6803dup (p.Leu2269LysfsTer3) c.5797_5801dup (p.Leu1935LysfsTer3) c.245_249dup c.6998_7002dup (n.6998_7002dup) c.64+866_64+870dup n.276_280dup c.6853_6857dup (p.Leu2287LysfsTer3) c.6829_6833dup (p.Leu2279LysfsTer3) c.6889_6893dup (p.Leu2299LysfsTer3) | dbSNP |
17 | g.31338746_31338750del | CA2592637824 | NF1 | c.6844_6848del (p.Gln2282SerfsTer17) c.1426_1430del (p.Gln476SerfsTer17) n.2684_2688del c.1018_1022del (p.Gln340SerfsTer17) n.3507_3511del c.6892_6896del (p.Gln2298SerfsTer17) c.6862_6866del (p.Gln2288SerfsTer17) c.6799_6803del (p.Gln2267SerfsTer17) c.5797_5801del (p.Gln1933SerfsTer17) c.245_249del c.6998_7002del (n.6998_7002del) c.64+866_64+870del n.276_280del c.6853_6857del (p.Gln2285SerfsTer17) c.6829_6833del (p.Gln2277SerfsTer17) c.6889_6893del (p.Gln2297SerfsTer17) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.31338744G>A | CA399014328 | NF1 | c.6842G>A (p.Ser2281Asn) c.1424G>A (p.Ser475Asn) n.2682G>A c.1016G>A (p.Ser339Asn) n.3505G>A c.6890G>A (p.Ser2297Asn) c.6860G>A (p.Ser2287Asn) c.6797G>A (p.Ser2266Asn) c.5795G>A (p.Ser1932Asn) c.243G>A c.6996G>A (n.6996G>A) c.64+864G>A n.274G>A c.6851G>A (p.Ser2284Asn) c.6827G>A (p.Ser2276Asn) c.6887G>A (p.Ser2296Asn) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.31338744G>C | CA399014329 | NF1 | c.6842G>C (p.Ser2281Thr) c.1424G>C (p.Ser475Thr) n.2682G>C c.1016G>C (p.Ser339Thr) n.3505G>C c.6890G>C (p.Ser2297Thr) c.6860G>C (p.Ser2287Thr) c.6797G>C (p.Ser2266Thr) c.5795G>C (p.Ser1932Thr) c.243G>C c.6996G>C (n.6996G>C) c.64+864G>C n.274G>C c.6851G>C (p.Ser2284Thr) c.6827G>C (p.Ser2276Thr) c.6887G>C (p.Ser2296Thr) | dbSNP |
17 | g.31338744G= | CA2255603139 | NF1 | c.6842G= (p.Ser2281=) c.1424G= (p.Ser475=) n.2682G= c.1016G= (p.Ser339=) n.3505G= c.6890G= (p.Ser2297=) c.6860G= (p.Ser2287=) c.6797G= (p.Ser2266=) c.5795G= (p.Ser1932=) c.243G= c.6996G= (n.6996G=) c.64+864G= n.274G= c.6851G= (p.Ser2284=) c.6827G= (p.Ser2276=) c.6887G= (p.Ser2296=) | |
17 | g.31338744G>T | CA399014330 | NF1 | c.6842G>T (p.Ser2281Ile) c.1424G>T (p.Ser475Ile) n.2682G>T c.1016G>T (p.Ser339Ile) n.3505G>T c.6890G>T (p.Ser2297Ile) c.6860G>T (p.Ser2287Ile) c.6797G>T (p.Ser2266Ile) c.5795G>T (p.Ser1932Ile) c.243G>T c.6996G>T (n.6996G>T) c.64+864G>T n.274G>T c.6851G>T (p.Ser2284Ile) c.6827G>T (p.Ser2276Ile) c.6887G>T (p.Ser2296Ile) | dbSNP |
17 | g.31338744_31338745del | CA2695225185 | NF1 | c.6842_6843del (p.Ser2281ThrfsTer19) c.1424_1425del (p.Ser475ThrfsTer19) n.2682_2683del c.1016_1017del (p.Ser339ThrfsTer19) n.3505_3506del c.6890_6891del (p.Ser2297ThrfsTer19) c.6860_6861del (p.Ser2287ThrfsTer19) c.6797_6798del (p.Ser2266ThrfsTer19) c.5795_5796del (p.Ser1932ThrfsTer19) c.243_244del c.6996_6997del (n.6996_6997del) c.64+864_64+865del n.274_275del c.6851_6852del (p.Ser2284ThrfsTer19) c.6827_6828del (p.Ser2276ThrfsTer19) c.6887_6888del (p.Ser2296ThrfsTer19) | |
17 | g.31338745T>A | CA399014331 | NF1 | c.6843T>A (p.Ser2281Arg) c.1425T>A (p.Ser475Arg) n.2683T>A c.1017T>A (p.Ser339Arg) n.3506T>A c.6891T>A (p.Ser2297Arg) c.6861T>A (p.Ser2287Arg) c.6798T>A (p.Ser2266Arg) c.5796T>A (p.Ser1932Arg) c.244T>A c.6997T>A (n.6997T>A) c.64+865T>A n.275T>A c.6852T>A (p.Ser2284Arg) c.6828T>A (p.Ser2276Arg) c.6888T>A (p.Ser2296Arg) | dbSNP |
17 | g.31338745T>C | CA499234343 | NF1 | c.6843T>C (p.Ser2281=) c.1425T>C (p.Ser475=) n.2683T>C c.1017T>C (p.Ser339=) n.3506T>C c.6891T>C (p.Ser2297=) c.6861T>C (p.Ser2287=) c.6798T>C (p.Ser2266=) c.5796T>C (p.Ser1932=) c.244T>C c.6997T>C (n.6997T>C) c.64+865T>C n.275T>C c.6852T>C (p.Ser2284=) c.6828T>C (p.Ser2276=) c.6888T>C (p.Ser2296=) | ClinVar |
17 | g.31338745T>G | CA399014332 | NF1 | c.6843T>G (p.Ser2281Arg) c.1425T>G (p.Ser475Arg) n.2683T>G c.1017T>G (p.Ser339Arg) n.3506T>G c.6891T>G (p.Ser2297Arg) c.6861T>G (p.Ser2287Arg) c.6798T>G (p.Ser2266Arg) c.5796T>G (p.Ser1932Arg) c.244T>G c.6997T>G (n.6997T>G) c.64+865T>G n.275T>G c.6852T>G (p.Ser2284Arg) c.6828T>G (p.Ser2276Arg) c.6888T>G (p.Ser2296Arg) | ClinVar dbSNP |
17 | g.31338745T= | CA2255603140 | NF1 | c.6843T= (p.Ser2281=) c.1425T= (p.Ser475=) n.2683T= c.1017T= (p.Ser339=) n.3506T= c.6891T= (p.Ser2297=) c.6861T= (p.Ser2287=) c.6798T= (p.Ser2266=) c.5796T= (p.Ser1932=) c.244T= c.6997T= (n.6997T=) c.64+865T= n.275T= c.6852T= (p.Ser2284=) c.6828T= (p.Ser2276=) c.6888T= (p.Ser2296=) | |
17 | g.31338745_31338748dup | CA891844408 | NF1 | c.6843_6846dup (p.Val2283SerfsTer19) c.1425_1428dup (p.Val477SerfsTer19) n.2683_2686dup c.1017_1020dup (p.Val341SerfsTer19) n.3506_3509dup c.6891_6894dup (p.Val2299SerfsTer19) c.6861_6864dup (p.Val2289SerfsTer19) c.6798_6801dup (p.Val2268SerfsTer19) c.5796_5799dup (p.Val1934SerfsTer19) c.244_247dup c.6997_7000dup (n.6997_7000dup) c.64+865_64+868dup n.275_278dup c.6852_6855dup (p.Val2286SerfsTer19) c.6828_6831dup (p.Val2278SerfsTer19) c.6888_6891dup (p.Val2298SerfsTer19) | ClinVar dbSNP |
17 | g.31338746C>A | CA399014333 | NF1 | c.6844C>A (p.Gln2282Lys) c.1426C>A (p.Gln476Lys) n.2684C>A c.1018C>A (p.Gln340Lys) n.3507C>A c.6892C>A (p.Gln2298Lys) c.6862C>A (p.Gln2288Lys) c.6799C>A (p.Gln2267Lys) c.5797C>A (p.Gln1933Lys) c.245C>A c.6998C>A (n.6998C>A) c.64+866C>A n.276C>A c.6853C>A (p.Gln2285Lys) c.6829C>A (p.Gln2277Lys) c.6889C>A (p.Gln2297Lys) | |
17 | g.31338746C>G | CA399014335 | NF1 | c.6844C>G (p.Gln2282Glu) c.1426C>G (p.Gln476Glu) n.2684C>G c.1018C>G (p.Gln340Glu) n.3507C>G c.6892C>G (p.Gln2298Glu) c.6862C>G (p.Gln2288Glu) c.6799C>G (p.Gln2267Glu) c.5797C>G (p.Gln1933Glu) c.245C>G c.6998C>G (n.6998C>G) c.64+866C>G n.276C>G c.6853C>G (p.Gln2285Glu) c.6829C>G (p.Gln2277Glu) c.6889C>G (p.Gln2297Glu) | dbSNP |
17 | g.31338746C>T | CA399014334 | NF1 | c.6844C>T (p.Gln2282Ter) c.1426C>T (p.Gln476Ter) n.2684C>T c.1018C>T (p.Gln340Ter) n.3507C>T c.6892C>T (p.Gln2298Ter) c.6862C>T (p.Gln2288Ter) c.6799C>T (p.Gln2267Ter) c.5797C>T (p.Gln1933Ter) c.245C>T c.6998C>T (n.6998C>T) c.64+866C>T n.276C>T c.6853C>T (p.Gln2285Ter) c.6829C>T (p.Gln2277Ter) c.6889C>T (p.Gln2297Ter) | ClinVar dbSNP |
17 | g.31338747A>C | CA399014336 | NF1 | c.6845A>C (p.Gln2282Pro) c.1427A>C (p.Gln476Pro) n.2685A>C c.1019A>C (p.Gln340Pro) n.3508A>C c.6893A>C (p.Gln2298Pro) c.6863A>C (p.Gln2288Pro) c.6800A>C (p.Gln2267Pro) c.5798A>C (p.Gln1933Pro) c.246A>C c.6999A>C (n.6999A>C) c.64+867A>C n.277A>C c.6854A>C (p.Gln2285Pro) c.6830A>C (p.Gln2277Pro) c.6890A>C (p.Gln2297Pro) | |
17 | g.31338747A>G | CA399014338 | NF1 | c.6845A>G (p.Gln2282Arg) c.1427A>G (p.Gln476Arg) n.2685A>G c.1019A>G (p.Gln340Arg) n.3508A>G c.6893A>G (p.Gln2298Arg) c.6863A>G (p.Gln2288Arg) c.6800A>G (p.Gln2267Arg) c.5798A>G (p.Gln1933Arg) c.246A>G c.6999A>G (n.6999A>G) c.64+867A>G n.277A>G c.6854A>G (p.Gln2285Arg) c.6830A>G (p.Gln2277Arg) c.6890A>G (p.Gln2297Arg) | |
17 | g.31338747A>T | CA399014337 | NF1 | c.6845A>T (p.Gln2282Leu) c.1427A>T (p.Gln476Leu) n.2685A>T c.1019A>T (p.Gln340Leu) n.3508A>T c.6893A>T (p.Gln2298Leu) c.6863A>T (p.Gln2288Leu) c.6800A>T (p.Gln2267Leu) c.5798A>T (p.Gln1933Leu) c.246A>T c.6999A>T (n.6999A>T) c.64+867A>T n.277A>T c.6854A>T (p.Gln2285Leu) c.6830A>T (p.Gln2277Leu) c.6890A>T (p.Gln2297Leu) | |
17 | g.31338747_31338748del | CA645572250 | NF1 | c.6845_6846del (p.Gln2282ArgfsTer18) c.1427_1428del (p.Gln476ArgfsTer18) n.2685_2686del c.1019_1020del (p.Gln340ArgfsTer18) n.3508_3509del c.6893_6894del (p.Gln2298ArgfsTer18) c.6863_6864del (p.Gln2288ArgfsTer18) c.6800_6801del (p.Gln2267ArgfsTer18) c.5798_5799del (p.Gln1933ArgfsTer18) c.246_247del c.6999_7000del (n.6999_7000del) c.64+867_64+868del n.277_278del c.6854_6855del (p.Gln2285ArgfsTer18) c.6830_6831del (p.Gln2277ArgfsTer18) c.6890_6891del (p.Gln2297ArgfsTer18) | COSMIC |
17 | g.31338748A= | CA2255603141 | NF1 | c.6846A= (p.Gln2282=) c.1428A= (p.Gln476=) n.2686A= c.1020A= (p.Gln340=) n.3509A= c.6894A= (p.Gln2298=) c.6864A= (p.Gln2288=) c.6801A= (p.Gln2267=) c.5799A= (p.Gln1933=) c.247A= c.7000A= (n.7000A=) c.64+868A= n.278A= c.6855A= (p.Gln2285=) c.6831A= (p.Gln2277=) c.6891A= (p.Gln2297=) | |
17 | g.31338748A>C | CA399014339 | NF1 | c.6846A>C (p.Gln2282His) c.1428A>C (p.Gln476His) n.2686A>C c.1020A>C (p.Gln340His) n.3509A>C c.6894A>C (p.Gln2298His) c.6864A>C (p.Gln2288His) c.6801A>C (p.Gln2267His) c.5799A>C (p.Gln1933His) c.247A>C c.7000A>C (n.7000A>C) c.64+868A>C n.278A>C c.6855A>C (p.Gln2285His) c.6831A>C (p.Gln2277His) c.6891A>C (p.Gln2297His) | |
17 | g.31338748A>G | CA16620374 | NF1 | c.6846A>G (p.Gln2282=) c.1428A>G (p.Gln476=) n.2686A>G c.1020A>G (p.Gln340=) n.3509A>G c.6894A>G (p.Gln2298=) c.6864A>G (p.Gln2288=) c.6801A>G (p.Gln2267=) c.5799A>G (p.Gln1933=) c.247A>G c.7000A>G (n.7000A>G) c.64+868A>G n.278A>G c.6855A>G (p.Gln2285=) c.6831A>G (p.Gln2277=) c.6891A>G (p.Gln2297=) | ClinVar dbSNP gnomAD v4 |
17 | g.31338748A>T | CA399014340 | NF1 | c.6846A>T (p.Gln2282His) c.1428A>T (p.Gln476His) n.2686A>T c.1020A>T (p.Gln340His) n.3509A>T c.6894A>T (p.Gln2298His) c.6864A>T (p.Gln2288His) c.6801A>T (p.Gln2267His) c.5799A>T (p.Gln1933His) c.247A>T c.7000A>T (n.7000A>T) c.64+868A>T n.278A>T c.6855A>T (p.Gln2285His) c.6831A>T (p.Gln2277His) c.6891A>T (p.Gln2297His) | dbSNP |
17 | g.31338748_31338749del | CA2695225186 | NF1 | c.6846_6847del (p.Gln2282HisfsTer18) c.1428_1429del (p.Gln476HisfsTer18) n.2686_2687del c.1020_1021del (p.Gln340HisfsTer18) n.3509_3510del c.6894_6895del (p.Gln2298HisfsTer18) c.6864_6865del (p.Gln2288HisfsTer18) c.6801_6802del (p.Gln2267HisfsTer18) c.5799_5800del (p.Gln1933HisfsTer18) c.247_248del c.7000_7001del (n.7000_7001del) c.64+868_64+869del n.278_279del c.6855_6856del (p.Gln2285HisfsTer18) c.6831_6832del (p.Gln2277HisfsTer18) c.6891_6892del (p.Gln2297HisfsTer18) | |
17 | g.31338749G>A | CA399014341 | NF1 | c.6847G>A (p.Val2283Ile) c.1429G>A (p.Val477Ile) n.2687G>A c.1021G>A (p.Val341Ile) n.3510G>A c.6895G>A (p.Val2299Ile) c.6865G>A (p.Val2289Ile) c.6802G>A (p.Val2268Ile) c.5800G>A (p.Val1934Ile) c.248G>A c.7001G>A (n.7001G>A) c.64+869G>A n.279G>A c.6856G>A (p.Val2286Ile) c.6832G>A (p.Val2278Ile) c.6892G>A (p.Val2298Ile) | dbSNP |
17 | g.31338749G>C | CA289388377 | NF1 | c.6847G>C (p.Val2283Leu) c.1429G>C (p.Val477Leu) n.2687G>C c.1021G>C (p.Val341Leu) n.3510G>C c.6895G>C (p.Val2299Leu) c.6865G>C (p.Val2289Leu) c.6802G>C (p.Val2268Leu) c.5800G>C (p.Val1934Leu) c.248G>C c.7001G>C (n.7001G>C) c.64+869G>C n.279G>C c.6856G>C (p.Val2286Leu) c.6832G>C (p.Val2278Leu) c.6892G>C (p.Val2298Leu) | ClinVar dbSNP |
17 | g.31338749G= | CA2255603142 | NF1 | c.6847G= (p.Val2283=) c.1429G= (p.Val477=) n.2687G= c.1021G= (p.Val341=) n.3510G= c.6895G= (p.Val2299=) c.6865G= (p.Val2289=) c.6802G= (p.Val2268=) c.5800G= (p.Val1934=) c.248G= c.7001G= (n.7001G=) c.64+869G= n.279G= c.6856G= (p.Val2286=) c.6832G= (p.Val2278=) c.6892G= (p.Val2298=) | |
17 | g.31338749G>T | CA399014342 | NF1 | c.6847G>T (p.Val2283Phe) c.1429G>T (p.Val477Phe) n.2687G>T c.1021G>T (p.Val341Phe) n.3510G>T c.6895G>T (p.Val2299Phe) c.6865G>T (p.Val2289Phe) c.6802G>T (p.Val2268Phe) c.5800G>T (p.Val1934Phe) c.248G>T c.7001G>T (n.7001G>T) c.64+869G>T n.279G>T c.6856G>T (p.Val2286Phe) c.6832G>T (p.Val2278Phe) c.6892G>T (p.Val2298Phe) | |
17 | g.31338750T>A | CA399014343 | NF1 | c.6848T>A (p.Val2283Asp) c.1430T>A (p.Val477Asp) n.2688T>A c.1022T>A (p.Val341Asp) n.3511T>A c.6896T>A (p.Val2299Asp) c.6866T>A (p.Val2289Asp) c.6803T>A (p.Val2268Asp) c.5801T>A (p.Val1934Asp) c.249T>A c.7002T>A (n.7002T>A) c.64+870T>A n.280T>A c.6857T>A (p.Val2286Asp) c.6833T>A (p.Val2278Asp) c.6893T>A (p.Val2298Asp) | dbSNP |
17 | g.31338750T>C | CA399014344 | NF1 | c.6848T>C (p.Val2283Ala) c.1430T>C (p.Val477Ala) n.2688T>C c.1022T>C (p.Val341Ala) n.3511T>C c.6896T>C (p.Val2299Ala) c.6866T>C (p.Val2289Ala) c.6803T>C (p.Val2268Ala) c.5801T>C (p.Val1934Ala) c.249T>C c.7002T>C (n.7002T>C) c.64+870T>C n.280T>C c.6857T>C (p.Val2286Ala) c.6833T>C (p.Val2278Ala) c.6893T>C (p.Val2298Ala) | dbSNP |
17 | g.31338750T>G | CA399014345 | NF1 | c.6848T>G (p.Val2283Gly) c.1430T>G (p.Val477Gly) n.2688T>G c.1022T>G (p.Val341Gly) n.3511T>G c.6896T>G (p.Val2299Gly) c.6866T>G (p.Val2289Gly) c.6803T>G (p.Val2268Gly) c.5801T>G (p.Val1934Gly) c.249T>G c.7002T>G (n.7002T>G) c.64+870T>G n.280T>G c.6857T>G (p.Val2286Gly) c.6833T>G (p.Val2278Gly) c.6893T>G (p.Val2298Gly) | |
17 | g.31338751T>A | CA499234344 | NF1 | c.6849T>A (p.Val2283=) c.1431T>A (p.Val477=) n.2689T>A c.1023T>A (p.Val341=) n.3512T>A c.6897T>A (p.Val2299=) c.6867T>A (p.Val2289=) c.6804T>A (p.Val2268=) c.5802T>A (p.Val1934=) c.250T>A c.7003T>A (n.7003T>A) c.64+871T>A n.281T>A c.6858T>A (p.Val2286=) c.6834T>A (p.Val2278=) c.6894T>A (p.Val2298=) | |
17 | g.31338751T>C | CA499234345 | NF1 | c.6849T>C (p.Val2283=) c.1431T>C (p.Val477=) n.2689T>C c.1023T>C (p.Val341=) n.3512T>C c.6897T>C (p.Val2299=) c.6867T>C (p.Val2289=) c.6804T>C (p.Val2268=) c.5802T>C (p.Val1934=) c.250T>C c.7003T>C (n.7003T>C) c.64+871T>C n.281T>C c.6858T>C (p.Val2286=) c.6834T>C (p.Val2278=) c.6894T>C (p.Val2298=) | ClinVar dbSNP gnomAD v4 |
17 | g.31338751T>G | CA499234346 | NF1 | c.6849T>G (p.Val2283=) c.1431T>G (p.Val477=) n.2689T>G c.1023T>G (p.Val341=) n.3512T>G c.6897T>G (p.Val2299=) c.6867T>G (p.Val2289=) c.6804T>G (p.Val2268=) c.5802T>G (p.Val1934=) c.250T>G c.7003T>G (n.7003T>G) c.64+871T>G n.281T>G c.6858T>G (p.Val2286=) c.6834T>G (p.Val2278=) c.6894T>G (p.Val2298=) | |
17 | g.31338752C>A | CA399014346 | NF1 | c.6850C>A (p.Leu2284Met) c.1432C>A (p.Leu478Met) n.2690C>A c.1024C>A (p.Leu342Met) n.3513C>A c.6898C>A (p.Leu2300Met) c.6868C>A (p.Leu2290Met) c.6805C>A (p.Leu2269Met) c.5803C>A (p.Leu1935Met) c.251C>A c.7004C>A (n.7004C>A) c.64+872C>A n.282C>A c.6859C>A (p.Leu2287Met) c.6835C>A (p.Leu2279Met) c.6895C>A (p.Leu2299Met) | |
17 | g.31338752C>G | CA399014347 | NF1 | c.6850C>G (p.Leu2284Val) c.1432C>G (p.Leu478Val) n.2690C>G c.1024C>G (p.Leu342Val) n.3513C>G c.6898C>G (p.Leu2300Val) c.6868C>G (p.Leu2290Val) c.6805C>G (p.Leu2269Val) c.5803C>G (p.Leu1935Val) c.251C>G c.7004C>G (n.7004C>G) c.64+872C>G n.282C>G c.6859C>G (p.Leu2287Val) c.6835C>G (p.Leu2279Val) c.6895C>G (p.Leu2299Val) | dbSNP |
17 | g.31338752C>T | CA499234347 | NF1 | c.6850C>T (p.Leu2284=) c.1432C>T (p.Leu478=) n.2690C>T c.1024C>T (p.Leu342=) n.3513C>T c.6898C>T (p.Leu2300=) c.6868C>T (p.Leu2290=) c.6805C>T (p.Leu2269=) c.5803C>T (p.Leu1935=) c.251C>T c.7004C>T (n.7004C>T) c.64+872C>T n.282C>T c.6859C>T (p.Leu2287=) c.6835C>T (p.Leu2279=) c.6895C>T (p.Leu2299=) | ClinVar dbSNP gnomAD v4 |
17 | g.31338753T>A | CA399014348 | NF1 | c.6851T>A (p.Leu2284Gln) c.1433T>A (p.Leu478Gln) n.2691T>A c.1025T>A (p.Leu342Gln) n.3514T>A c.6899T>A (p.Leu2300Gln) c.6869T>A (p.Leu2290Gln) c.6806T>A (p.Leu2269Gln) c.5804T>A (p.Leu1935Gln) c.252T>A c.7005T>A (n.7005T>A) c.64+873T>A n.283T>A c.6860T>A (p.Leu2287Gln) c.6836T>A (p.Leu2279Gln) c.6896T>A (p.Leu2299Gln) | |
17 | g.31338753T>C | CA399014349 | NF1 | c.6851T>C (p.Leu2284Pro) c.1433T>C (p.Leu478Pro) n.2691T>C c.1025T>C (p.Leu342Pro) n.3514T>C c.6899T>C (p.Leu2300Pro) c.6869T>C (p.Leu2290Pro) c.6806T>C (p.Leu2269Pro) c.5804T>C (p.Leu1935Pro) c.252T>C c.7005T>C (n.7005T>C) c.64+873T>C n.283T>C c.6860T>C (p.Leu2287Pro) c.6836T>C (p.Leu2279Pro) c.6896T>C (p.Leu2299Pro) | ClinVar |
17 | g.31338753T>G | CA399014350 | NF1 | c.6851T>G (p.Leu2284Arg) c.1433T>G (p.Leu478Arg) n.2691T>G c.1025T>G (p.Leu342Arg) n.3514T>G c.6899T>G (p.Leu2300Arg) c.6869T>G (p.Leu2290Arg) c.6806T>G (p.Leu2269Arg) c.5804T>G (p.Leu1935Arg) c.252T>G c.7005T>G (n.7005T>G) c.64+873T>G n.283T>G c.6860T>G (p.Leu2287Arg) c.6836T>G (p.Leu2279Arg) c.6896T>G (p.Leu2299Arg) | ClinVar gnomAD v4 |
17 | g.31338754G>A | CA8487443 | NF1 | c.6852G>A (p.Leu2284=) c.1434G>A (p.Leu478=) n.2692G>A c.1026G>A (p.Leu342=) n.3515G>A c.6900G>A (p.Leu2300=) c.6870G>A (p.Leu2290=) c.6807G>A (p.Leu2269=) c.5805G>A (p.Leu1935=) c.253G>A c.7006G>A (n.7006G>A) c.64+874G>A n.284G>A c.6861G>A (p.Leu2287=) c.6837G>A (p.Leu2279=) c.6897G>A (p.Leu2299=) | ClinVar dbSNP ExAC |
17 | g.31338754G>C | CA499234348 | NF1 | c.6852G>C (p.Leu2284=) c.1434G>C (p.Leu478=) n.2692G>C c.1026G>C (p.Leu342=) n.3515G>C c.6900G>C (p.Leu2300=) c.6870G>C (p.Leu2290=) c.6807G>C (p.Leu2269=) c.5805G>C (p.Leu1935=) c.253G>C c.7006G>C (n.7006G>C) c.64+874G>C n.284G>C c.6861G>C (p.Leu2287=) c.6837G>C (p.Leu2279=) c.6897G>C (p.Leu2299=) | ClinVar dbSNP |
17 | g.31338754G= | CA2255603143 | NF1 | c.6852G= (p.Leu2284=) c.1434G= (p.Leu478=) n.2692G= c.1026G= (p.Leu342=) n.3515G= c.6900G= (p.Leu2300=) c.6870G= (p.Leu2290=) c.6807G= (p.Leu2269=) c.5805G= (p.Leu1935=) c.253G= c.7006G= (n.7006G=) c.64+874G= n.284G= c.6861G= (p.Leu2287=) c.6837G= (p.Leu2279=) c.6897G= (p.Leu2299=) | |
17 | g.31338754G>T | CA337083 | NF1 | c.6852G>T (p.Leu2284=) c.1434G>T (p.Leu478=) n.2692G>T c.1026G>T (p.Leu342=) n.3515G>T c.6900G>T (p.Leu2300=) c.6870G>T (p.Leu2290=) c.6807G>T (p.Leu2269=) c.5805G>T (p.Leu1935=) c.253G>T c.7006G>T (n.7006G>T) c.64+874G>T n.284G>T c.6861G>T (p.Leu2287=) c.6837G>T (p.Leu2279=) c.6897G>T (p.Leu2299=) | ClinVar dbSNP |
17 | g.31338755del | CA2580093167 | NF1 | c.6853del (p.Ile2285Ter) c.1435del (p.Ile479Ter) n.2693del c.1027del (p.Ile343Ter) n.3516del c.6901del (p.Ile2301Ter) c.6871del (p.Ile2291Ter) c.6808del (p.Ile2270Ter) c.5806del (p.Ile1936Ter) c.254del c.7007del (n.7007del) c.64+875del n.285del c.6862del (p.Ile2288Ter) c.6838del (p.Ile2280Ter) c.6898del (p.Ile2300Ter) | ClinVar |
17 | g.31338755A= | CA2255603144 | NF1 | c.6853A= (p.Ile2285=) c.1435A= (p.Ile479=) n.2693A= c.1027A= (p.Ile343=) n.3516A= c.6901A= (p.Ile2301=) c.6871A= (p.Ile2291=) c.6808A= (p.Ile2270=) c.5806A= (p.Ile1936=) c.254A= c.7007A= (n.7007A=) c.64+875A= n.285A= c.6862A= (p.Ile2288=) c.6838A= (p.Ile2280=) c.6898A= (p.Ile2300=) | |
17 | g.31338755A>C | CA10580393 | NF1 | c.6853A>C (p.Ile2285Leu) c.1435A>C (p.Ile479Leu) n.2693A>C c.1027A>C (p.Ile343Leu) n.3516A>C c.6901A>C (p.Ile2301Leu) c.6871A>C (p.Ile2291Leu) c.6808A>C (p.Ile2270Leu) c.5806A>C (p.Ile1936Leu) c.254A>C c.7007A>C (n.7007A>C) c.64+875A>C n.285A>C c.6862A>C (p.Ile2288Leu) c.6838A>C (p.Ile2280Leu) c.6898A>C (p.Ile2300Leu) | ClinVar dbSNP gnomAD v4 |
17 | g.31338755A>G | CA399014351 | NF1 | c.6853A>G (p.Ile2285Val) c.1435A>G (p.Ile479Val) n.2693A>G c.1027A>G (p.Ile343Val) n.3516A>G c.6901A>G (p.Ile2301Val) c.6871A>G (p.Ile2291Val) c.6808A>G (p.Ile2270Val) c.5806A>G (p.Ile1936Val) c.254A>G c.7007A>G (n.7007A>G) c.64+875A>G n.285A>G c.6862A>G (p.Ile2288Val) c.6838A>G (p.Ile2280Val) c.6898A>G (p.Ile2300Val) | |
17 | g.31338755A>T | CA399014352 | NF1 | c.6853A>T (p.Ile2285Leu) c.1435A>T (p.Ile479Leu) n.2693A>T c.1027A>T (p.Ile343Leu) n.3516A>T c.6901A>T (p.Ile2301Leu) c.6871A>T (p.Ile2291Leu) c.6808A>T (p.Ile2270Leu) c.5806A>T (p.Ile1936Leu) c.254A>T c.7007A>T (n.7007A>T) c.64+875A>T n.285A>T c.6862A>T (p.Ile2288Leu) c.6838A>T (p.Ile2280Leu) c.6898A>T (p.Ile2300Leu) | ClinVar dbSNP |
17 | g.31338756T>A | CA399014353 | NF1 | c.6854T>A (p.Ile2285Lys) c.1436T>A (p.Ile479Lys) n.2694T>A c.1028T>A (p.Ile343Lys) n.3517T>A c.6902T>A (p.Ile2301Lys) c.6872T>A (p.Ile2291Lys) c.6809T>A (p.Ile2270Lys) c.5807T>A (p.Ile1936Lys) c.255T>A c.7008T>A (n.7008T>A) c.64+876T>A n.286T>A c.6863T>A (p.Ile2288Lys) c.6839T>A (p.Ile2280Lys) c.6899T>A (p.Ile2300Lys) | |
17 | g.31338756T>C | CA399014355 | NF1 | c.6854T>C (p.Ile2285Thr) c.1436T>C (p.Ile479Thr) n.2694T>C c.1028T>C (p.Ile343Thr) n.3517T>C c.6902T>C (p.Ile2301Thr) c.6872T>C (p.Ile2291Thr) c.6809T>C (p.Ile2270Thr) c.5807T>C (p.Ile1936Thr) c.255T>C c.7008T>C (n.7008T>C) c.64+876T>C n.286T>C c.6863T>C (p.Ile2288Thr) c.6839T>C (p.Ile2280Thr) c.6899T>C (p.Ile2300Thr) | ClinVar |
17 | g.31338756T>G | CA399014354 | NF1 | c.6854T>G (p.Ile2285Arg) c.1436T>G (p.Ile479Arg) n.2694T>G c.1028T>G (p.Ile343Arg) n.3517T>G c.6902T>G (p.Ile2301Arg) c.6872T>G (p.Ile2291Arg) c.6809T>G (p.Ile2270Arg) c.5807T>G (p.Ile1936Arg) c.255T>G c.7008T>G (n.7008T>G) c.64+876T>G n.286T>G c.6863T>G (p.Ile2288Arg) c.6839T>G (p.Ile2280Arg) c.6899T>G (p.Ile2300Arg) | |
17 | g.31338757A>C | CA499234349 | NF1 | c.6855A>C (p.Ile2285=) c.1437A>C (p.Ile479=) n.2695A>C c.1029A>C (p.Ile343=) n.3518A>C c.6903A>C (p.Ile2301=) c.6873A>C (p.Ile2291=) c.6810A>C (p.Ile2270=) c.5808A>C (p.Ile1936=) c.256A>C c.7009A>C (n.7009A>C) c.64+877A>C n.287A>C c.6864A>C (p.Ile2288=) c.6840A>C (p.Ile2280=) c.6900A>C (p.Ile2300=) | |
17 | g.31338757A>G | CA399014356 | NF1 | c.6855A>G (p.Ile2285Met) c.1437A>G (p.Ile479Met) n.2695A>G c.1029A>G (p.Ile343Met) n.3518A>G c.6903A>G (p.Ile2301Met) c.6873A>G (p.Ile2291Met) c.6810A>G (p.Ile2270Met) c.5808A>G (p.Ile1936Met) c.256A>G c.7009A>G (n.7009A>G) c.64+877A>G n.287A>G c.6864A>G (p.Ile2288Met) c.6840A>G (p.Ile2280Met) c.6900A>G (p.Ile2300Met) | dbSNP gnomAD v4 |
17 | g.31338757A>T | CA499234350 | NF1 | c.6855A>T (p.Ile2285=) c.1437A>T (p.Ile479=) n.2695A>T c.1029A>T (p.Ile343=) n.3518A>T c.6903A>T (p.Ile2301=) c.6873A>T (p.Ile2291=) c.6810A>T (p.Ile2270=) c.5808A>T (p.Ile1936=) c.256A>T c.7009A>T (n.7009A>T) c.64+877A>T n.287A>T c.6864A>T (p.Ile2288=) c.6840A>T (p.Ile2280=) c.6900A>T (p.Ile2300=) | |
17 | g.31338757_31338758insAA | CA658760999 | NF1 | c.6855_6856insAA (p.Glu2286LysfsTer5) c.1437_1438insAA (p.Glu480LysfsTer5) n.2695_2696insAA c.1029_1030insAA (p.Glu344LysfsTer5) n.3518_3519insAA c.6903_6904insAA (p.Glu2302LysfsTer5) c.6873_6874insAA (p.Glu2292LysfsTer5) c.6810_6811insAA (p.Glu2271LysfsTer5) c.5808_5809insAA (p.Glu1937LysfsTer5) c.256_257insAA c.7009_7010insAA (n.7009_7010insAA) c.64+877_64+878insAA n.287_288insAA c.6864_6865insAA (p.Glu2289LysfsTer5) c.6840_6841insAA (p.Glu2281LysfsTer5) c.6900_6901insAA (p.Glu2301LysfsTer5) | |
17 | g.31338757_31338761del | CA2695225187 | NF1 | c.6855_6859del (p.Glu2286TyrfsTer13) c.1437_1441del (p.Glu480TyrfsTer13) n.2695_2699del c.1029_1033del (p.Glu344TyrfsTer13) n.3518_3522del c.6903_6907del (p.Glu2302TyrfsTer13) c.6873_6877del (p.Glu2292TyrfsTer13) c.6810_6814del (p.Glu2271TyrfsTer13) c.5808_5812del (p.Glu1937TyrfsTer13) c.256_260del c.7009_7013del (n.7009_7013del) c.64+877_64+881del n.287_291del c.6864_6868del (p.Glu2289TyrfsTer13) c.6840_6844del (p.Glu2281TyrfsTer13) c.6900_6904del (p.Glu2301TyrfsTer13) | |
17 | g.31338758G>A | CA399014357 | NF1 | c.6856G>A (p.Glu2286Lys) c.1438G>A (p.Glu480Lys) n.2696G>A c.1030G>A (p.Glu344Lys) n.3519G>A c.6904G>A (p.Glu2302Lys) c.6874G>A (p.Glu2292Lys) c.6811G>A (p.Glu2271Lys) c.5809G>A (p.Glu1937Lys) c.257G>A c.7010G>A (n.7010G>A) c.64+878G>A n.288G>A c.6865G>A (p.Glu2289Lys) c.6841G>A (p.Glu2281Lys) c.6901G>A (p.Glu2301Lys) | dbSNP |
17 | g.31338758G>C | CA399014358 | NF1 | c.6856G>C (p.Glu2286Gln) c.1438G>C (p.Glu480Gln) n.2696G>C c.1030G>C (p.Glu344Gln) n.3519G>C c.6904G>C (p.Glu2302Gln) c.6874G>C (p.Glu2292Gln) c.6811G>C (p.Glu2271Gln) c.5809G>C (p.Glu1937Gln) c.257G>C c.7010G>C (n.7010G>C) c.64+878G>C n.288G>C c.6865G>C (p.Glu2289Gln) c.6841G>C (p.Glu2281Gln) c.6901G>C (p.Glu2301Gln) | dbSNP |
17 | g.31338758G>T | CA399014359 | NF1 | c.6856G>T (p.Glu2286Ter) c.1438G>T (p.Glu480Ter) n.2696G>T c.1030G>T (p.Glu344Ter) n.3519G>T c.6904G>T (p.Glu2302Ter) c.6874G>T (p.Glu2292Ter) c.6811G>T (p.Glu2271Ter) c.5809G>T (p.Glu1937Ter) c.257G>T c.7010G>T (n.7010G>T) c.64+878G>T n.288G>T c.6865G>T (p.Glu2289Ter) c.6841G>T (p.Glu2281Ter) c.6901G>T (p.Glu2301Ter) | |
17 | g.31338759A>C | CA399014360 | NF1 | c.6857A>C (p.Glu2286Ala) c.1439A>C (p.Glu480Ala) n.2697A>C c.1031A>C (p.Glu344Ala) n.3520A>C c.6905A>C (p.Glu2302Ala) c.6875A>C (p.Glu2292Ala) c.6812A>C (p.Glu2271Ala) c.5810A>C (p.Glu1937Ala) c.258A>C c.7011A>C (n.7011A>C) c.64+879A>C n.289A>C c.6866A>C (p.Glu2289Ala) c.6842A>C (p.Glu2281Ala) c.6902A>C (p.Glu2301Ala) | |
17 | g.31338759A>G | CA399014361 | NF1 | c.6857A>G (p.Glu2286Gly) c.1439A>G (p.Glu480Gly) n.2697A>G c.1031A>G (p.Glu344Gly) n.3520A>G c.6905A>G (p.Glu2302Gly) c.6875A>G (p.Glu2292Gly) c.6812A>G (p.Glu2271Gly) c.5810A>G (p.Glu1937Gly) c.258A>G c.7011A>G (n.7011A>G) c.64+879A>G n.289A>G c.6866A>G (p.Glu2289Gly) c.6842A>G (p.Glu2281Gly) c.6902A>G (p.Glu2301Gly) | dbSNP |
17 | g.31338759A>T | CA399014362 | NF1 | c.6857A>T (p.Glu2286Val) c.1439A>T (p.Glu480Val) n.2697A>T c.1031A>T (p.Glu344Val) n.3520A>T c.6905A>T (p.Glu2302Val) c.6875A>T (p.Glu2292Val) c.6812A>T (p.Glu2271Val) c.5810A>T (p.Glu1937Val) c.258A>T c.7011A>T (n.7011A>T) c.64+879A>T n.289A>T c.6866A>T (p.Glu2289Val) c.6842A>T (p.Glu2281Val) c.6902A>T (p.Glu2301Val) | dbSNP |
17 | g.31338760A>C | CA399014363 | NF1 | c.6858A>C (p.Glu2286Asp) c.1440A>C (p.Glu480Asp) n.2698A>C c.1032A>C (p.Glu344Asp) n.3521A>C c.6906A>C (p.Glu2302Asp) c.6876A>C (p.Glu2292Asp) c.6813A>C (p.Glu2271Asp) c.5811A>C (p.Glu1937Asp) c.259A>C c.7012A>C (n.7012A>C) c.64+880A>C n.290A>C c.6867A>C (p.Glu2289Asp) c.6843A>C (p.Glu2281Asp) c.6903A>C (p.Glu2301Asp) | |
17 | g.31338760A>G | CA499234351 | NF1 | c.6858A>G (p.Glu2286=) c.1440A>G (p.Glu480=) n.2698A>G c.1032A>G (p.Glu344=) n.3521A>G c.6906A>G (p.Glu2302=) c.6876A>G (p.Glu2292=) c.6813A>G (p.Glu2271=) c.5811A>G (p.Glu1937=) c.259A>G c.7012A>G (n.7012A>G) c.64+880A>G n.290A>G c.6867A>G (p.Glu2289=) c.6843A>G (p.Glu2281=) c.6903A>G (p.Glu2301=) | |
17 | g.31338760A>T | CA399014364 | NF1 | c.6858A>T (p.Glu2286Asp) c.1440A>T (p.Glu480Asp) n.2698A>T c.1032A>T (p.Glu344Asp) n.3521A>T c.6906A>T (p.Glu2302Asp) c.6876A>T (p.Glu2292Asp) c.6813A>T (p.Glu2271Asp) c.5811A>T (p.Glu1937Asp) c.259A>T c.7012A>T (n.7012A>T) c.64+880A>T n.290A>T c.6867A>T (p.Glu2289Asp) c.6843A>T (p.Glu2281Asp) c.6903A>T (p.Glu2301Asp) | dbSNP |
17 | g.31338761_31338764del | CA2697559627 | NF1 | c.6859_6862del (p.Ala2287GlnfsTer2) c.1441_1444del (p.Ala481GlnfsTer2) n.2699_2702del c.1033_1036del (p.Ala345GlnfsTer2) n.3522_3525del c.6907_6910del (p.Ala2303GlnfsTer2) c.6877_6880del (p.Ala2293GlnfsTer2) c.6814_6817del (p.Ala2272GlnfsTer2) c.5812_5815del (p.Ala1938GlnfsTer2) c.260_263del c.7013_7016del (n.7013_7016del) c.64+881_64+884del n.291_294del c.6868_6871del (p.Ala2290GlnfsTer2) c.6844_6847del (p.Ala2282GlnfsTer2) c.6904_6907del (p.Ala2302GlnfsTer2) | ClinVar |
17 | g.31338761G>A | CA399014367 | NF1 | c.6859G>A (p.Ala2287Thr) c.1441G>A (p.Ala481Thr) n.2699G>A c.1033G>A (p.Ala345Thr) n.3522G>A c.6907G>A (p.Ala2303Thr) c.6877G>A (p.Ala2293Thr) c.6814G>A (p.Ala2272Thr) c.5812G>A (p.Ala1938Thr) c.260G>A c.7013G>A (n.7013G>A) c.64+881G>A n.291G>A c.6868G>A (p.Ala2290Thr) c.6844G>A (p.Ala2282Thr) c.6904G>A (p.Ala2302Thr) | dbSNP |
17 | g.31338761G>C | CA399014366 | NF1 | c.6859G>C (p.Ala2287Pro) c.1441G>C (p.Ala481Pro) n.2699G>C c.1033G>C (p.Ala345Pro) n.3522G>C c.6907G>C (p.Ala2303Pro) c.6877G>C (p.Ala2293Pro) c.6814G>C (p.Ala2272Pro) c.5812G>C (p.Ala1938Pro) c.260G>C c.7013G>C (n.7013G>C) c.64+881G>C n.291G>C c.6868G>C (p.Ala2290Pro) c.6844G>C (p.Ala2282Pro) c.6904G>C (p.Ala2302Pro) | dbSNP |
17 | g.31338761G>T | CA399014365 | NF1 | c.6859G>T (p.Ala2287Ser) c.1441G>T (p.Ala481Ser) n.2699G>T c.1033G>T (p.Ala345Ser) n.3522G>T c.6907G>T (p.Ala2303Ser) c.6877G>T (p.Ala2293Ser) c.6814G>T (p.Ala2272Ser) c.5812G>T (p.Ala1938Ser) c.260G>T c.7013G>T (n.7013G>T) c.64+881G>T n.291G>T c.6868G>T (p.Ala2290Ser) c.6844G>T (p.Ala2282Ser) c.6904G>T (p.Ala2302Ser) | |
17 | g.31338761_31338762delinsAG | CA2739267436 | NF1 | c.6859_6860delinsAG (p.Ala2287Ser) c.1441_1442delinsAG (p.Ala481Ser) n.2699_2700delinsAG c.1033_1034delinsAG (p.Ala345Ser) n.3522_3523delinsAG c.6907_6908delinsAG (p.Ala2303Ser) c.6877_6878delinsAG (p.Ala2293Ser) c.6814_6815delinsAG (p.Ala2272Ser) c.5812_5813delinsAG (p.Ala1938Ser) c.260_261delinsAG c.7013_7014delinsAG (n.7013_7014delinsAG) c.64+881_64+882delinsAG n.291_292delinsAG c.6868_6869delinsAG (p.Ala2290Ser) c.6844_6845delinsAG (p.Ala2282Ser) c.6904_6905delinsAG (p.Ala2302Ser) | ClinVar |
17 | g.31338761_31338762delinsGC | CA2255603145 | NF1 | c.6859_6860delinsGC (p.Ala2287=) c.1441_1442delinsGC (p.Ala481=) n.2699_2700delinsGC c.1033_1034delinsGC (p.Ala345=) n.3522_3523delinsGC c.6907_6908delinsGC (p.Ala2303=) c.6877_6878delinsGC (p.Ala2293=) c.6814_6815delinsGC (p.Ala2272=) c.5812_5813delinsGC (p.Ala1938=) c.260_261delinsGC c.7013_7014delinsGC (n.7013_7014delinsGC) c.64+881_64+882delinsGC n.291_292delinsGC c.6868_6869delinsGC (p.Ala2290=) c.6844_6845delinsGC (p.Ala2282=) c.6904_6905delinsGC (p.Ala2302=) | |
17 | g.31338762del | CA645372614 | NF1 | c.6860del (p.Ala2287ValfsTer3) c.1442del (p.Ala481ValfsTer3) n.2700del c.1034del (p.Ala345ValfsTer3) n.3523del c.6908del (p.Ala2303ValfsTer3) c.6878del (p.Ala2293ValfsTer3) c.6815del (p.Ala2272ValfsTer3) c.5813del (p.Ala1938ValfsTer3) c.261del c.7014del (n.7014del) c.64+882del n.292del c.6869del (p.Ala2290ValfsTer3) c.6845del (p.Ala2282ValfsTer3) c.6905del (p.Ala2302ValfsTer3) | ClinVar dbSNP |
17 | g.31338762C>A | CA399014368 | NF1 | c.6860C>A (p.Ala2287Asp) c.1442C>A (p.Ala481Asp) n.2700C>A c.1034C>A (p.Ala345Asp) n.3523C>A c.6908C>A (p.Ala2303Asp) c.6878C>A (p.Ala2293Asp) c.6815C>A (p.Ala2272Asp) c.5813C>A (p.Ala1938Asp) c.261C>A c.7014C>A (n.7014C>A) c.64+882C>A n.292C>A c.6869C>A (p.Ala2290Asp) c.6845C>A (p.Ala2282Asp) c.6905C>A (p.Ala2302Asp) | dbSNP |
17 | g.31338762C>G | CA399014369 | NF1 | c.6860C>G (p.Ala2287Gly) c.1442C>G (p.Ala481Gly) n.2700C>G c.1034C>G (p.Ala345Gly) n.3523C>G c.6908C>G (p.Ala2303Gly) c.6878C>G (p.Ala2293Gly) c.6815C>G (p.Ala2272Gly) c.5813C>G (p.Ala1938Gly) c.261C>G c.7014C>G (n.7014C>G) c.64+882C>G n.292C>G c.6869C>G (p.Ala2290Gly) c.6845C>G (p.Ala2282Gly) c.6905C>G (p.Ala2302Gly) | dbSNP |
17 | g.31338762C>T | CA399014370 | NF1 | c.6860C>T (p.Ala2287Val) c.1442C>T (p.Ala481Val) n.2700C>T c.1034C>T (p.Ala345Val) n.3523C>T c.6908C>T (p.Ala2303Val) c.6878C>T (p.Ala2293Val) c.6815C>T (p.Ala2272Val) c.5813C>T (p.Ala1938Val) c.261C>T c.7014C>T (n.7014C>T) c.64+882C>T n.292C>T c.6869C>T (p.Ala2290Val) c.6845C>T (p.Ala2282Val) c.6905C>T (p.Ala2302Val) | dbSNP |
17 | g.31338762_31338763dup | CA2697559628 | NF1 | c.6860_6861dup (p.Thr2288LeufsTer3) c.1442_1443dup (p.Thr482LeufsTer3) n.2700_2701dup c.1034_1035dup (p.Thr346LeufsTer3) n.3523_3524dup c.6908_6909dup (p.Thr2304LeufsTer3) c.6878_6879dup (p.Thr2294LeufsTer3) c.6815_6816dup (p.Thr2273LeufsTer3) c.5813_5814dup (p.Thr1939LeufsTer3) c.261_262dup c.7014_7015dup (n.7014_7015dup) c.64+882_64+883dup n.292_293dup c.6869_6870dup (p.Thr2291LeufsTer3) c.6845_6846dup (p.Thr2283LeufsTer3) c.6905_6906dup (p.Thr2303LeufsTer3) | ClinVar |
17 | g.31338763T>A | CA499234352 | NF1 | c.6861T>A (p.Ala2287=) c.1443T>A (p.Ala481=) n.2701T>A c.1035T>A (p.Ala345=) n.3524T>A c.6909T>A (p.Ala2303=) c.6879T>A (p.Ala2293=) c.6816T>A (p.Ala2272=) c.5814T>A (p.Ala1938=) c.262T>A c.7015T>A (n.7015T>A) c.64+883T>A n.293T>A c.6870T>A (p.Ala2290=) c.6846T>A (p.Ala2282=) c.6906T>A (p.Ala2302=) | dbSNP |
17 | g.31338763T>C | CA8487444 | NF1 | c.6861T>C (p.Ala2287=) c.1443T>C (p.Ala481=) n.2701T>C c.1035T>C (p.Ala345=) n.3524T>C c.6909T>C (p.Ala2303=) c.6879T>C (p.Ala2293=) c.6816T>C (p.Ala2272=) c.5814T>C (p.Ala1938=) c.262T>C c.7015T>C (n.7015T>C) c.64+883T>C n.293T>C c.6870T>C (p.Ala2290=) c.6846T>C (p.Ala2282=) c.6906T>C (p.Ala2302=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.31338763T>G | CA499234353 | NF1 | c.6861T>G (p.Ala2287=) c.1443T>G (p.Ala481=) n.2701T>G c.1035T>G (p.Ala345=) n.3524T>G c.6909T>G (p.Ala2303=) c.6879T>G (p.Ala2293=) c.6816T>G (p.Ala2272=) c.5814T>G (p.Ala1938=) c.262T>G c.7015T>G (n.7015T>G) c.64+883T>G n.293T>G c.6870T>G (p.Ala2290=) c.6846T>G (p.Ala2282=) c.6906T>G (p.Ala2302=) | |
17 | g.31338763T= | CA2255603146 | NF1 | c.6861T= (p.Ala2287=) c.1443T= (p.Ala481=) n.2701T= c.1035T= (p.Ala345=) n.3524T= c.6909T= (p.Ala2303=) c.6879T= (p.Ala2293=) c.6816T= (p.Ala2272=) c.5814T= (p.Ala1938=) c.262T= c.7015T= (n.7015T=) c.64+883T= n.293T= c.6870T= (p.Ala2290=) c.6846T= (p.Ala2282=) c.6906T= (p.Ala2302=) | |
17 | g.31338764A>C | CA399014371 | NF1 | c.6862A>C (p.Thr2288Pro) c.1444A>C (p.Thr482Pro) n.2702A>C c.1036A>C (p.Thr346Pro) n.3525A>C c.6910A>C (p.Thr2304Pro) c.6880A>C (p.Thr2294Pro) c.6817A>C (p.Thr2273Pro) c.5815A>C (p.Thr1939Pro) c.263A>C c.7016A>C (n.7016A>C) c.64+884A>C n.294A>C c.6871A>C (p.Thr2291Pro) c.6847A>C (p.Thr2283Pro) c.6907A>C (p.Thr2303Pro) | |
17 | g.31338764A>G | CA399014372 | NF1 | c.6862A>G (p.Thr2288Ala) c.1444A>G (p.Thr482Ala) n.2702A>G c.1036A>G (p.Thr346Ala) n.3525A>G c.6910A>G (p.Thr2304Ala) c.6880A>G (p.Thr2294Ala) c.6817A>G (p.Thr2273Ala) c.5815A>G (p.Thr1939Ala) c.263A>G c.7016A>G (n.7016A>G) c.64+884A>G n.294A>G c.6871A>G (p.Thr2291Ala) c.6847A>G (p.Thr2283Ala) c.6907A>G (p.Thr2303Ala) | gnomAD v4 |
17 | g.31338764A>T | CA399014373 | NF1 | c.6862A>T (p.Thr2288Ser) c.1444A>T (p.Thr482Ser) n.2702A>T c.1036A>T (p.Thr346Ser) n.3525A>T c.6910A>T (p.Thr2304Ser) c.6880A>T (p.Thr2294Ser) c.6817A>T (p.Thr2273Ser) c.5815A>T (p.Thr1939Ser) c.263A>T c.7016A>T (n.7016A>T) c.64+884A>T n.294A>T c.6871A>T (p.Thr2291Ser) c.6847A>T (p.Thr2283Ser) c.6907A>T (p.Thr2303Ser) | dbSNP |
17 | g.31338764_31338790del | CA2573153878 | NF1 | c.6862_6888del (p.Thr2288_Gln2296del) c.1444_1470del (p.Thr482_Gln490del) n.2702_2728del c.1036_1062del (p.Thr346_Gln354del) n.3525_3551del c.6910_6936del (p.Thr2304_Gln2312del) c.6880_6906del (p.Thr2294_Gln2302del) c.6817_6843del (p.Thr2273_Gln2281del) c.5815_5841del (p.Thr1939_Gln1947del) c.263_289del c.7016_7042del (n.7016_7042del) c.64+884_64+910del n.294_320del c.6871_6897del (p.Thr2291_Gln2299del) c.6847_6873del (p.Thr2283_Gln2291del) c.6907_6933del (p.Thr2303_Gln2311del) | ClinVar dbSNP |
17 | g.31338765C>A | CA399014374 | NF1 | c.6863C>A (p.Thr2288Lys) c.1445C>A (p.Thr482Lys) n.2703C>A c.1037C>A (p.Thr346Lys) n.3526C>A c.6911C>A (p.Thr2304Lys) c.6881C>A (p.Thr2294Lys) c.6818C>A (p.Thr2273Lys) c.5816C>A (p.Thr1939Lys) c.264C>A c.7017C>A (n.7017C>A) c.64+885C>A n.295C>A c.6872C>A (p.Thr2291Lys) c.6848C>A (p.Thr2283Lys) c.6908C>A (p.Thr2303Lys) | |
17 | g.31338765C= | CA2255603147 | NF1 | c.6863C= (p.Thr2288=) c.1445C= (p.Thr482=) n.2703C= c.1037C= (p.Thr346=) n.3526C= c.6911C= (p.Thr2304=) c.6881C= (p.Thr2294=) c.6818C= (p.Thr2273=) c.5816C= (p.Thr1939=) c.264C= c.7017C= (n.7017C=) c.64+885C= n.295C= c.6872C= (p.Thr2291=) c.6848C= (p.Thr2283=) c.6908C= (p.Thr2303=) | |
17 | g.31338765C>G | CA399014375 | NF1 | c.6863C>G (p.Thr2288Arg) c.1445C>G (p.Thr482Arg) n.2703C>G c.1037C>G (p.Thr346Arg) n.3526C>G c.6911C>G (p.Thr2304Arg) c.6881C>G (p.Thr2294Arg) c.6818C>G (p.Thr2273Arg) c.5816C>G (p.Thr1939Arg) c.264C>G c.7017C>G (n.7017C>G) c.64+885C>G n.295C>G c.6872C>G (p.Thr2291Arg) c.6848C>G (p.Thr2283Arg) c.6908C>G (p.Thr2303Arg) | dbSNP |
17 | g.31338765C>T | CA190906 | NF1 | c.6863C>T (p.Thr2288Ile) c.1445C>T (p.Thr482Ile) n.2703C>T c.1037C>T (p.Thr346Ile) n.3526C>T c.6911C>T (p.Thr2304Ile) c.6881C>T (p.Thr2294Ile) c.6818C>T (p.Thr2273Ile) c.5816C>T (p.Thr1939Ile) c.264C>T c.7017C>T (n.7017C>T) c.64+885C>T n.295C>T c.6872C>T (p.Thr2291Ile) c.6848C>T (p.Thr2283Ile) c.6908C>T (p.Thr2303Ile) | ClinVar dbSNP gnomAD v4 |
17 | g.31338767_31338782del | CA2573153879 | NF1 | c.6865_6880del (p.Val2289AsnfsTer19) c.1447_1462del (p.Val483AsnfsTer19) n.2705_2720del c.1039_1054del (p.Val347AsnfsTer19) n.3528_3543del c.6913_6928del (p.Val2305AsnfsTer19) c.6883_6898del (p.Val2295AsnfsTer19) c.6820_6835del (p.Val2274AsnfsTer19) c.5818_5833del (p.Val1940AsnfsTer19) c.266_281del c.7019_7034del (n.7019_7034del) c.64+887_64+902del n.297_312del c.6874_6889del (p.Val2292AsnfsTer19) c.6850_6865del (p.Val2284AsnfsTer19) c.6910_6925del (p.Val2304AsnfsTer19) | ClinVar dbSNP |
17 | g.31338766A= | CA2255603148 | NF1 | c.6864A= (p.Thr2288=) c.1446A= (p.Thr482=) n.2704A= c.1038A= (p.Thr346=) n.3527A= c.6912A= (p.Thr2304=) c.6882A= (p.Thr2294=) c.6819A= (p.Thr2273=) c.5817A= (p.Thr1939=) c.265A= c.7018A= (n.7018A=) c.64+886A= n.296A= c.6873A= (p.Thr2291=) c.6849A= (p.Thr2283=) c.6909A= (p.Thr2303=) | |
17 | g.31338766A>C | CA499234355 | NF1 | c.6864A>C (p.Thr2288=) c.1446A>C (p.Thr482=) n.2704A>C c.1038A>C (p.Thr346=) n.3527A>C c.6912A>C (p.Thr2304=) c.6882A>C (p.Thr2294=) c.6819A>C (p.Thr2273=) c.5817A>C (p.Thr1939=) c.265A>C c.7018A>C (n.7018A>C) c.64+886A>C n.296A>C c.6873A>C (p.Thr2291=) c.6849A>C (p.Thr2283=) c.6909A>C (p.Thr2303=) | |
17 | g.31338766A>G | CA8487445 | NF1 | c.6864A>G (p.Thr2288=) c.1446A>G (p.Thr482=) n.2704A>G c.1038A>G (p.Thr346=) n.3527A>G c.6912A>G (p.Thr2304=) c.6882A>G (p.Thr2294=) c.6819A>G (p.Thr2273=) c.5817A>G (p.Thr1939=) c.265A>G c.7018A>G (n.7018A>G) c.64+886A>G n.296A>G c.6873A>G (p.Thr2291=) c.6849A>G (p.Thr2283=) c.6909A>G (p.Thr2303=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.31338766A>T | CA499234354 | NF1 | c.6864A>T (p.Thr2288=) c.1446A>T (p.Thr482=) n.2704A>T c.1038A>T (p.Thr346=) n.3527A>T c.6912A>T (p.Thr2304=) c.6882A>T (p.Thr2294=) c.6819A>T (p.Thr2273=) c.5817A>T (p.Thr1939=) c.265A>T c.7018A>T (n.7018A>T) c.64+886A>T n.296A>T c.6873A>T (p.Thr2291=) c.6849A>T (p.Thr2283=) c.6909A>T (p.Thr2303=) | |
17 | g.31338767G>A | CA399014376 | NF1 | c.6865G>A (p.Val2289Ile) c.1447G>A (p.Val483Ile) n.2705G>A c.1039G>A (p.Val347Ile) n.3528G>A c.6913G>A (p.Val2305Ile) c.6883G>A (p.Val2295Ile) c.6820G>A (p.Val2274Ile) c.5818G>A (p.Val1940Ile) c.266G>A c.7019G>A (n.7019G>A) c.64+887G>A n.297G>A c.6874G>A (p.Val2292Ile) c.6850G>A (p.Val2284Ile) c.6910G>A (p.Val2304Ile) | dbSNP |
17 | g.31338767G>C | CA399014377 | NF1 | c.6865G>C (p.Val2289Leu) c.1447G>C (p.Val483Leu) n.2705G>C c.1039G>C (p.Val347Leu) n.3528G>C c.6913G>C (p.Val2305Leu) c.6883G>C (p.Val2295Leu) c.6820G>C (p.Val2274Leu) c.5818G>C (p.Val1940Leu) c.266G>C c.7019G>C (n.7019G>C) c.64+887G>C n.297G>C c.6874G>C (p.Val2292Leu) c.6850G>C (p.Val2284Leu) c.6910G>C (p.Val2304Leu) | dbSNP |
17 | g.31338767G>T | CA399014378 | NF1 | c.6865G>T (p.Val2289Leu) c.1447G>T (p.Val483Leu) n.2705G>T c.1039G>T (p.Val347Leu) n.3528G>T c.6913G>T (p.Val2305Leu) c.6883G>T (p.Val2295Leu) c.6820G>T (p.Val2274Leu) c.5818G>T (p.Val1940Leu) c.266G>T c.7019G>T (n.7019G>T) c.64+887G>T n.297G>T c.6874G>T (p.Val2292Leu) c.6850G>T (p.Val2284Leu) c.6910G>T (p.Val2304Leu) | ClinVar dbSNP |
17 | g.31338767_31338785delinsGTAATAGCACTAACCAAAT | CA2255603149 | NF1 | c.6865_6883delinsGTAATAGCACTAACCAAAT (p.Val2289=) c.1447_1465delinsGTAATAGCACTAACCAAAT (p.Val483=) n.2705_2723delinsGTAATAGCACTAACCAAAT c.1039_1057delinsGTAATAGCACTAACCAAAT (p.Val347=) n.3528_3546delinsGTAATAGCACTAACCAAAT c.6913_6931delinsGTAATAGCACTAACCAAAT (p.Val2305=) c.6883_6901delinsGTAATAGCACTAACCAAAT (p.Val2295=) c.6820_6838delinsGTAATAGCACTAACCAAAT (p.Val2274=) c.5818_5836delinsGTAATAGCACTAACCAAAT (p.Val1940=) c.266_284delinsGTAATAGCACTAACCAAAT c.7019_7037delinsGTAATAGCACTAACCAAAT (n.7019_7037delinsGTAATAGCACTAACCAAAT) c.64+887_64+905delinsGTAATAGCACTAACCAAAT n.297_315delinsGTAATAGCACTAACCAAAT c.6874_6892delinsGTAATAGCACTAACCAAAT (p.Val2292=) c.6850_6868delinsGTAATAGCACTAACCAAAT (p.Val2284=) c.6910_6928delinsGTAATAGCACTAACCAAAT (p.Val2304=) | |
17 | g.31338768T>A | CA399014379 | NF1 | c.6866T>A (p.Val2289Glu) c.1448T>A (p.Val483Glu) n.2706T>A c.1040T>A (p.Val347Glu) n.3529T>A c.6914T>A (p.Val2305Glu) c.6884T>A (p.Val2295Glu) c.6821T>A (p.Val2274Glu) c.5819T>A (p.Val1940Glu) c.267T>A c.7020T>A (n.7020T>A) c.64+888T>A n.298T>A c.6875T>A (p.Val2292Glu) c.6851T>A (p.Val2284Glu) c.6911T>A (p.Val2304Glu) | |
17 | g.31338768T>C | CA399014381 | NF1 | c.6866T>C (p.Val2289Ala) c.1448T>C (p.Val483Ala) n.2706T>C c.1040T>C (p.Val347Ala) n.3529T>C c.6914T>C (p.Val2305Ala) c.6884T>C (p.Val2295Ala) c.6821T>C (p.Val2274Ala) c.5819T>C (p.Val1940Ala) c.267T>C c.7020T>C (n.7020T>C) c.64+888T>C n.298T>C c.6875T>C (p.Val2292Ala) c.6851T>C (p.Val2284Ala) c.6911T>C (p.Val2304Ala) | |
17 | g.31338768T>G | CA399014380 | NF1 | c.6866T>G (p.Val2289Gly) c.1448T>G (p.Val483Gly) n.2706T>G c.1040T>G (p.Val347Gly) n.3529T>G c.6914T>G (p.Val2305Gly) c.6884T>G (p.Val2295Gly) c.6821T>G (p.Val2274Gly) c.5819T>G (p.Val1940Gly) c.267T>G c.7020T>G (n.7020T>G) c.64+888T>G n.298T>G c.6875T>G (p.Val2292Gly) c.6851T>G (p.Val2284Gly) c.6911T>G (p.Val2304Gly) | |
17 | g.31338770_31338787del | CA2255603150 | NF1 | c.6868_6885del (p.Ile2290_Leu2295del) c.1450_1467del (p.Ile484_Leu489del) n.2708_2725del c.1042_1059del (p.Ile348_Leu353del) n.3531_3548del c.6916_6933del (p.Ile2306_Leu2311del) c.6886_6903del (p.Ile2296_Leu2301del) c.6823_6840del (p.Ile2275_Leu2280del) c.5821_5838del (p.Ile1941_Leu1946del) c.269_286del c.7022_7039del (n.7022_7039del) c.64+890_64+907del n.300_317del c.6877_6894del (p.Ile2293_Leu2298del) c.6853_6870del (p.Ile2285_Leu2290del) c.6913_6930del (p.Ile2305_Leu2310del) | ClinVar dbSNP |
17 | g.31338769A>C | CA499234356 | NF1 | c.6867A>C (p.Val2289=) c.1449A>C (p.Val483=) n.2707A>C c.1041A>C (p.Val347=) n.3530A>C c.6915A>C (p.Val2305=) c.6885A>C (p.Val2295=) c.6822A>C (p.Val2274=) c.5820A>C (p.Val1940=) c.268A>C c.7021A>C (n.7021A>C) c.64+889A>C n.299A>C c.6876A>C (p.Val2292=) c.6852A>C (p.Val2284=) c.6912A>C (p.Val2304=) | |
17 | g.31338769A>G | CA499234357 | NF1 | c.6867A>G (p.Val2289=) c.1449A>G (p.Val483=) n.2707A>G c.1041A>G (p.Val347=) n.3530A>G c.6915A>G (p.Val2305=) c.6885A>G (p.Val2295=) c.6822A>G (p.Val2274=) c.5820A>G (p.Val1940=) c.268A>G c.7021A>G (n.7021A>G) c.64+889A>G n.299A>G c.6876A>G (p.Val2292=) c.6852A>G (p.Val2284=) c.6912A>G (p.Val2304=) | ClinVar gnomAD v4 |
17 | g.31338769A>T | CA499234358 | NF1 | c.6867A>T (p.Val2289=) c.1449A>T (p.Val483=) n.2707A>T c.1041A>T (p.Val347=) n.3530A>T c.6915A>T (p.Val2305=) c.6885A>T (p.Val2295=) c.6822A>T (p.Val2274=) c.5820A>T (p.Val1940=) c.268A>T c.7021A>T (n.7021A>T) c.64+889A>T n.299A>T c.6876A>T (p.Val2292=) c.6852A>T (p.Val2284=) c.6912A>T (p.Val2304=) | dbSNP |
17 | g.31338770dup | CA2697559629 | NF1 | c.6868dup (p.Ile2290AsnfsTer11) c.1450dup (p.Ile484AsnfsTer11) n.2708dup c.1042dup (p.Ile348AsnfsTer11) n.3531dup c.6916dup (p.Ile2306AsnfsTer11) c.6886dup (p.Ile2296AsnfsTer11) c.6823dup (p.Ile2275AsnfsTer11) c.5821dup (p.Ile1941AsnfsTer11) c.269dup c.7022dup (n.7022dup) c.64+890dup n.300dup c.6877dup (p.Ile2293AsnfsTer11) c.6853dup (p.Ile2285AsnfsTer11) c.6913dup (p.Ile2305AsnfsTer11) | ClinVar |
17 | g.31338770A>C | CA399014382 | NF1 | c.6868A>C (p.Ile2290Leu) c.1450A>C (p.Ile484Leu) n.2708A>C c.1042A>C (p.Ile348Leu) n.3531A>C c.6916A>C (p.Ile2306Leu) c.6886A>C (p.Ile2296Leu) c.6823A>C (p.Ile2275Leu) c.5821A>C (p.Ile1941Leu) c.269A>C c.7022A>C (n.7022A>C) c.64+890A>C n.300A>C c.6877A>C (p.Ile2293Leu) c.6853A>C (p.Ile2285Leu) c.6913A>C (p.Ile2305Leu) | |
17 | g.31338770A>G | CA399014383 | NF1 | c.6868A>G (p.Ile2290Val) c.1450A>G (p.Ile484Val) n.2708A>G c.1042A>G (p.Ile348Val) n.3531A>G c.6916A>G (p.Ile2306Val) c.6886A>G (p.Ile2296Val) c.6823A>G (p.Ile2275Val) c.5821A>G (p.Ile1941Val) c.269A>G c.7022A>G (n.7022A>G) c.64+890A>G n.300A>G c.6877A>G (p.Ile2293Val) c.6853A>G (p.Ile2285Val) c.6913A>G (p.Ile2305Val) | |
17 | g.31338770A>T | CA399014384 | NF1 | c.6868A>T (p.Ile2290Leu) c.1450A>T (p.Ile484Leu) n.2708A>T c.1042A>T (p.Ile348Leu) n.3531A>T c.6916A>T (p.Ile2306Leu) c.6886A>T (p.Ile2296Leu) c.6823A>T (p.Ile2275Leu) c.5821A>T (p.Ile1941Leu) c.269A>T c.7022A>T (n.7022A>T) c.64+890A>T n.300A>T c.6877A>T (p.Ile2293Leu) c.6853A>T (p.Ile2285Leu) c.6913A>T (p.Ile2305Leu) | |
17 | g.31338771T>A | CA399014385 | NF1 | c.6869T>A (p.Ile2290Lys) c.1451T>A (p.Ile484Lys) n.2709T>A c.1043T>A (p.Ile348Lys) n.3532T>A c.6917T>A (p.Ile2306Lys) c.6887T>A (p.Ile2296Lys) c.6824T>A (p.Ile2275Lys) c.5822T>A (p.Ile1941Lys) c.270T>A c.7023T>A (n.7023T>A) c.64+891T>A n.301T>A c.6878T>A (p.Ile2293Lys) c.6854T>A (p.Ile2285Lys) c.6914T>A (p.Ile2305Lys) | dbSNP |
17 | g.31338771T>C | CA399014386 | NF1 | c.6869T>C (p.Ile2290Thr) c.1451T>C (p.Ile484Thr) n.2709T>C c.1043T>C (p.Ile348Thr) n.3532T>C c.6917T>C (p.Ile2306Thr) c.6887T>C (p.Ile2296Thr) c.6824T>C (p.Ile2275Thr) c.5822T>C (p.Ile1941Thr) c.270T>C c.7023T>C (n.7023T>C) c.64+891T>C n.301T>C c.6878T>C (p.Ile2293Thr) c.6854T>C (p.Ile2285Thr) c.6914T>C (p.Ile2305Thr) | ClinVar dbSNP gnomAD v4 |
17 | g.31338771T>G | CA399014387 | NF1 | c.6869T>G (p.Ile2290Arg) c.1451T>G (p.Ile484Arg) n.2709T>G c.1043T>G (p.Ile348Arg) n.3532T>G c.6917T>G (p.Ile2306Arg) c.6887T>G (p.Ile2296Arg) c.6824T>G (p.Ile2275Arg) c.5822T>G (p.Ile1941Arg) c.270T>G c.7023T>G (n.7023T>G) c.64+891T>G n.301T>G c.6878T>G (p.Ile2293Arg) c.6854T>G (p.Ile2285Arg) c.6914T>G (p.Ile2305Arg) | |
17 | g.31338771T= | CA2255603151 | NF1 | c.6869T= (p.Ile2290=) c.1451T= (p.Ile484=) n.2709T= c.1043T= (p.Ile348=) n.3532T= c.6917T= (p.Ile2306=) c.6887T= (p.Ile2296=) c.6824T= (p.Ile2275=) c.5822T= (p.Ile1941=) c.270T= c.7023T= (n.7023T=) c.64+891T= n.301T= c.6878T= (p.Ile2293=) c.6854T= (p.Ile2285=) c.6914T= (p.Ile2305=) | |
17 | g.31338772A>C | CA499234359 | NF1 | c.6870A>C (p.Ile2290=) c.1452A>C (p.Ile484=) n.2710A>C c.1044A>C (p.Ile348=) n.3533A>C c.6918A>C (p.Ile2306=) c.6888A>C (p.Ile2296=) c.6825A>C (p.Ile2275=) c.5823A>C (p.Ile1941=) c.271A>C c.7024A>C (n.7024A>C) c.64+892A>C n.302A>C c.6879A>C (p.Ile2293=) c.6855A>C (p.Ile2285=) c.6915A>C (p.Ile2305=) | |
17 | g.31338772A>G | CA399014388 | NF1 | c.6870A>G (p.Ile2290Met) c.1452A>G (p.Ile484Met) n.2710A>G c.1044A>G (p.Ile348Met) n.3533A>G c.6918A>G (p.Ile2306Met) c.6888A>G (p.Ile2296Met) c.6825A>G (p.Ile2275Met) c.5823A>G (p.Ile1941Met) c.271A>G c.7024A>G (n.7024A>G) c.64+892A>G n.302A>G c.6879A>G (p.Ile2293Met) c.6855A>G (p.Ile2285Met) c.6915A>G (p.Ile2305Met) | dbSNP |
17 | g.31338772A>T | CA499234360 | NF1 | c.6870A>T (p.Ile2290=) c.1452A>T (p.Ile484=) n.2710A>T c.1044A>T (p.Ile348=) n.3533A>T c.6918A>T (p.Ile2306=) c.6888A>T (p.Ile2296=) c.6825A>T (p.Ile2275=) c.5823A>T (p.Ile1941=) c.271A>T c.7024A>T (n.7024A>T) c.64+892A>T n.302A>T c.6879A>T (p.Ile2293=) c.6855A>T (p.Ile2285=) c.6915A>T (p.Ile2305=) | |
17 | g.31338773G>A | CA399014389 | NF1 | c.6871G>A (p.Ala2291Thr) c.1453G>A (p.Ala485Thr) n.2711G>A c.1045G>A (p.Ala349Thr) n.3534G>A c.6919G>A (p.Ala2307Thr) c.6889G>A (p.Ala2297Thr) c.6826G>A (p.Ala2276Thr) c.5824G>A (p.Ala1942Thr) c.272G>A c.7025G>A (n.7025G>A) c.64+893G>A n.303G>A c.6880G>A (p.Ala2294Thr) c.6856G>A (p.Ala2286Thr) c.6916G>A (p.Ala2306Thr) | ClinVar dbSNP |
17 | g.31338773G>C | CA399014390 | NF1 | c.6871G>C (p.Ala2291Pro) c.1453G>C (p.Ala485Pro) n.2711G>C c.1045G>C (p.Ala349Pro) n.3534G>C c.6919G>C (p.Ala2307Pro) c.6889G>C (p.Ala2297Pro) c.6826G>C (p.Ala2276Pro) c.5824G>C (p.Ala1942Pro) c.272G>C c.7025G>C (n.7025G>C) c.64+893G>C n.303G>C c.6880G>C (p.Ala2294Pro) c.6856G>C (p.Ala2286Pro) c.6916G>C (p.Ala2306Pro) | dbSNP |
17 | g.31338773G>T | CA399014391 | NF1 | c.6871G>T (p.Ala2291Ser) c.1453G>T (p.Ala485Ser) n.2711G>T c.1045G>T (p.Ala349Ser) n.3534G>T c.6919G>T (p.Ala2307Ser) c.6889G>T (p.Ala2297Ser) c.6826G>T (p.Ala2276Ser) c.5824G>T (p.Ala1942Ser) c.272G>T c.7025G>T (n.7025G>T) c.64+893G>T n.303G>T c.6880G>T (p.Ala2294Ser) c.6856G>T (p.Ala2286Ser) c.6916G>T (p.Ala2306Ser) | dbSNP COSMIC COSMIC COSMIC |
17 | g.31338774C>A | CA399014394 | NF1 | c.6872C>A (p.Ala2291Glu) c.1454C>A (p.Ala485Glu) n.2712C>A c.1046C>A (p.Ala349Glu) n.3535C>A c.6920C>A (p.Ala2307Glu) c.6890C>A (p.Ala2297Glu) c.6827C>A (p.Ala2276Glu) c.5825C>A (p.Ala1942Glu) c.273C>A c.7026C>A (n.7026C>A) c.64+894C>A n.304C>A c.6881C>A (p.Ala2294Glu) c.6857C>A (p.Ala2286Glu) c.6917C>A (p.Ala2306Glu) | dbSNP |
17 | g.31338774C= | CA2255603152 | NF1 | c.6872C= (p.Ala2291=) c.1454C= (p.Ala485=) n.2712C= c.1046C= (p.Ala349=) n.3535C= c.6920C= (p.Ala2307=) c.6890C= (p.Ala2297=) c.6827C= (p.Ala2276=) c.5825C= (p.Ala1942=) c.273C= c.7026C= (n.7026C=) c.64+894C= n.304C= c.6881C= (p.Ala2294=) c.6857C= (p.Ala2286=) c.6917C= (p.Ala2306=) | |
17 | g.31338774C>G | CA399014393 | NF1 | c.6872C>G (p.Ala2291Gly) c.1454C>G (p.Ala485Gly) n.2712C>G c.1046C>G (p.Ala349Gly) n.3535C>G c.6920C>G (p.Ala2307Gly) c.6890C>G (p.Ala2297Gly) c.6827C>G (p.Ala2276Gly) c.5825C>G (p.Ala1942Gly) c.273C>G c.7026C>G (n.7026C>G) c.64+894C>G n.304C>G c.6881C>G (p.Ala2294Gly) c.6857C>G (p.Ala2286Gly) c.6917C>G (p.Ala2306Gly) | ClinVar dbSNP |
17 | g.31338774C>T | CA399014392 | NF1 | c.6872C>T (p.Ala2291Val) c.1454C>T (p.Ala485Val) n.2712C>T c.1046C>T (p.Ala349Val) n.3535C>T c.6920C>T (p.Ala2307Val) c.6890C>T (p.Ala2297Val) c.6827C>T (p.Ala2276Val) c.5825C>T (p.Ala1942Val) c.273C>T c.7026C>T (n.7026C>T) c.64+894C>T n.304C>T c.6881C>T (p.Ala2294Val) c.6857C>T (p.Ala2286Val) c.6917C>T (p.Ala2306Val) | dbSNP |
17 | g.31338775_31338776del | CA2695225188 | NF1 | c.6873_6874del (p.Leu2292AsnfsTer8) c.1455_1456del (p.Leu486AsnfsTer8) n.2713_2714del c.1047_1048del (p.Leu350AsnfsTer8) n.3536_3537del c.6921_6922del (p.Leu2308AsnfsTer8) c.6891_6892del (p.Leu2298AsnfsTer8) c.6828_6829del (p.Leu2277AsnfsTer8) c.5826_5827del (p.Leu1943AsnfsTer8) c.274_275del c.7027_7028del (n.7027_7028del) c.64+895_64+896del n.305_306del c.6882_6883del (p.Leu2295AsnfsTer8) c.6858_6859del (p.Leu2287AsnfsTer8) c.6918_6919del (p.Leu2307AsnfsTer8) | |
17 | g.31338775A= | CA2255603153 | NF1 | c.6873A= (p.Ala2291=) c.1455A= (p.Ala485=) n.2713A= c.1047A= (p.Ala349=) n.3536A= c.6921A= (p.Ala2307=) c.6891A= (p.Ala2297=) c.6828A= (p.Ala2276=) c.5826A= (p.Ala1942=) c.274A= c.7027A= (n.7027A=) c.64+895A= n.305A= c.6882A= (p.Ala2294=) c.6858A= (p.Ala2286=) c.6918A= (p.Ala2306=) | |
17 | g.31338775A>C | CA499234361 | NF1 | c.6873A>C (p.Ala2291=) c.1455A>C (p.Ala485=) n.2713A>C c.1047A>C (p.Ala349=) n.3536A>C c.6921A>C (p.Ala2307=) c.6891A>C (p.Ala2297=) c.6828A>C (p.Ala2276=) c.5826A>C (p.Ala1942=) c.274A>C c.7027A>C (n.7027A>C) c.64+895A>C n.305A>C c.6882A>C (p.Ala2294=) c.6858A>C (p.Ala2286=) c.6918A>C (p.Ala2306=) | |
17 | g.31338775A>G | CA8487446 | NF1 | c.6873A>G (p.Ala2291=) c.1455A>G (p.Ala485=) n.2713A>G c.1047A>G (p.Ala349=) n.3536A>G c.6921A>G (p.Ala2307=) c.6891A>G (p.Ala2297=) c.6828A>G (p.Ala2276=) c.5826A>G (p.Ala1942=) c.274A>G c.7027A>G (n.7027A>G) c.64+895A>G n.305A>G c.6882A>G (p.Ala2294=) c.6858A>G (p.Ala2286=) c.6918A>G (p.Ala2306=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.31338775A>T | CA499234362 | NF1 | c.6873A>T (p.Ala2291=) c.1455A>T (p.Ala485=) n.2713A>T c.1047A>T (p.Ala349=) n.3536A>T c.6921A>T (p.Ala2307=) c.6891A>T (p.Ala2297=) c.6828A>T (p.Ala2276=) c.5826A>T (p.Ala1942=) c.274A>T c.7027A>T (n.7027A>T) c.64+895A>T n.305A>T c.6882A>T (p.Ala2294=) c.6858A>T (p.Ala2286=) c.6918A>T (p.Ala2306=) | |
17 | g.31338776del | CA2695225189 | NF1 | c.6874del (p.Leu2292Ter) c.1456del (p.Leu486Ter) n.2714del c.1048del (p.Leu350Ter) n.3537del c.6922del (p.Leu2308Ter) c.6892del (p.Leu2298Ter) c.6829del (p.Leu2277Ter) c.5827del (p.Leu1943Ter) c.275del c.7028del (n.7028del) c.64+896del n.306del c.6883del (p.Leu2295Ter) c.6859del (p.Leu2287Ter) c.6919del (p.Leu2307Ter) | |
17 | g.31338776C>A | CA399014395 | NF1 | c.6874C>A (p.Leu2292Ile) c.1456C>A (p.Leu486Ile) n.2714C>A c.1048C>A (p.Leu350Ile) n.3537C>A c.6922C>A (p.Leu2308Ile) c.6892C>A (p.Leu2298Ile) c.6829C>A (p.Leu2277Ile) c.5827C>A (p.Leu1943Ile) c.275C>A c.7028C>A (n.7028C>A) c.64+896C>A n.306C>A c.6883C>A (p.Leu2295Ile) c.6859C>A (p.Leu2287Ile) c.6919C>A (p.Leu2307Ile) | ClinVar dbSNP |
17 | g.31338776C= | CA2255603154 | NF1 | c.6874C= (p.Leu2292=) c.1456C= (p.Leu486=) n.2714C= c.1048C= (p.Leu350=) n.3537C= c.6922C= (p.Leu2308=) c.6892C= (p.Leu2298=) c.6829C= (p.Leu2277=) c.5827C= (p.Leu1943=) c.275C= c.7028C= (n.7028C=) c.64+896C= n.306C= c.6883C= (p.Leu2295=) c.6859C= (p.Leu2287=) c.6919C= (p.Leu2307=) | |
17 | g.31338776C>G | CA399014396 | NF1 | c.6874C>G (p.Leu2292Val) c.1456C>G (p.Leu486Val) n.2714C>G c.1048C>G (p.Leu350Val) n.3537C>G c.6922C>G (p.Leu2308Val) c.6892C>G (p.Leu2298Val) c.6829C>G (p.Leu2277Val) c.5827C>G (p.Leu1943Val) c.275C>G c.7028C>G (n.7028C>G) c.64+896C>G n.306C>G c.6883C>G (p.Leu2295Val) c.6859C>G (p.Leu2287Val) c.6919C>G (p.Leu2307Val) | dbSNP |
17 | g.31338776C>T | CA499234363 | NF1 | c.6874C>T (p.Leu2292=) c.1456C>T (p.Leu486=) n.2714C>T c.1048C>T (p.Leu350=) n.3537C>T c.6922C>T (p.Leu2308=) c.6892C>T (p.Leu2298=) c.6829C>T (p.Leu2277=) c.5827C>T (p.Leu1943=) c.275C>T c.7028C>T (n.7028C>T) c.64+896C>T n.306C>T c.6883C>T (p.Leu2295=) c.6859C>T (p.Leu2287=) c.6919C>T (p.Leu2307=) | ClinVar dbSNP |
17 | g.31338776dup | CA916080689 | NF1 | c.6874dup (p.Leu2292ProfsTer9) c.1456dup (p.Leu486ProfsTer9) n.2714dup c.1048dup (p.Leu350ProfsTer9) n.3537dup c.6922dup (p.Leu2308ProfsTer9) c.6892dup (p.Leu2298ProfsTer9) c.6829dup (p.Leu2277ProfsTer9) c.5827dup (p.Leu1943ProfsTer9) c.275dup c.7028dup (n.7028dup) c.64+896dup n.306dup c.6883dup (p.Leu2295ProfsTer9) c.6859dup (p.Leu2287ProfsTer9) c.6919dup (p.Leu2307ProfsTer9) | ClinVar dbSNP |
17 | g.31338777T>A | CA399014397 | NF1 | c.6875T>A (p.Leu2292Gln) c.1457T>A (p.Leu486Gln) n.2715T>A c.1049T>A (p.Leu350Gln) n.3538T>A c.6923T>A (p.Leu2308Gln) c.6893T>A (p.Leu2298Gln) c.6830T>A (p.Leu2277Gln) c.5828T>A (p.Leu1943Gln) c.276T>A c.7029T>A (n.7029T>A) c.64+897T>A n.307T>A c.6884T>A (p.Leu2295Gln) c.6860T>A (p.Leu2287Gln) c.6920T>A (p.Leu2307Gln) | |
17 | g.31338777T>C | CA399014398 | NF1 | c.6875T>C (p.Leu2292Pro) c.1457T>C (p.Leu486Pro) n.2715T>C c.1049T>C (p.Leu350Pro) n.3538T>C c.6923T>C (p.Leu2308Pro) c.6893T>C (p.Leu2298Pro) c.6830T>C (p.Leu2277Pro) c.5828T>C (p.Leu1943Pro) c.276T>C c.7029T>C (n.7029T>C) c.64+897T>C n.307T>C c.6884T>C (p.Leu2295Pro) c.6860T>C (p.Leu2287Pro) c.6920T>C (p.Leu2307Pro) | ClinVar dbSNP gnomAD v4 |
17 | g.31338777T>G | CA399014399 | NF1 | c.6875T>G (p.Leu2292Arg) c.1457T>G (p.Leu486Arg) n.2715T>G c.1049T>G (p.Leu350Arg) n.3538T>G c.6923T>G (p.Leu2308Arg) c.6893T>G (p.Leu2298Arg) c.6830T>G (p.Leu2277Arg) c.5828T>G (p.Leu1943Arg) c.276T>G c.7029T>G (n.7029T>G) c.64+897T>G n.307T>G c.6884T>G (p.Leu2295Arg) c.6860T>G (p.Leu2287Arg) c.6920T>G (p.Leu2307Arg) | gnomAD v4 |
17 | g.31338777T= | CA2255603155 | NF1 | c.6875T= (p.Leu2292=) c.1457T= (p.Leu486=) n.2715T= c.1049T= (p.Leu350=) n.3538T= c.6923T= (p.Leu2308=) c.6893T= (p.Leu2298=) c.6830T= (p.Leu2277=) c.5828T= (p.Leu1943=) c.276T= c.7029T= (n.7029T=) c.64+897T= n.307T= c.6884T= (p.Leu2295=) c.6860T= (p.Leu2287=) c.6920T= (p.Leu2307=) | |
17 | g.31338778A>C | CA499234364 | NF1 | c.6876A>C (p.Leu2292=) c.1458A>C (p.Leu486=) n.2716A>C c.1050A>C (p.Leu350=) n.3539A>C c.6924A>C (p.Leu2308=) c.6894A>C (p.Leu2298=) c.6831A>C (p.Leu2277=) c.5829A>C (p.Leu1943=) c.277A>C c.7030A>C (n.7030A>C) c.64+898A>C n.308A>C c.6885A>C (p.Leu2295=) c.6861A>C (p.Leu2287=) c.6921A>C (p.Leu2307=) | |
17 | g.31338778A>G | CA499234365 | NF1 | c.6876A>G (p.Leu2292=) c.1458A>G (p.Leu486=) n.2716A>G c.1050A>G (p.Leu350=) n.3539A>G c.6924A>G (p.Leu2308=) c.6894A>G (p.Leu2298=) c.6831A>G (p.Leu2277=) c.5829A>G (p.Leu1943=) c.277A>G c.7030A>G (n.7030A>G) c.64+898A>G n.308A>G c.6885A>G (p.Leu2295=) c.6861A>G (p.Leu2287=) c.6921A>G (p.Leu2307=) | |
17 | g.31338778A>T | CA499234366 | NF1 | c.6876A>T (p.Leu2292=) c.1458A>T (p.Leu486=) n.2716A>T c.1050A>T (p.Leu350=) n.3539A>T c.6924A>T (p.Leu2308=) c.6894A>T (p.Leu2298=) c.6831A>T (p.Leu2277=) c.5829A>T (p.Leu1943=) c.277A>T c.7030A>T (n.7030A>T) c.64+898A>T n.308A>T c.6885A>T (p.Leu2295=) c.6861A>T (p.Leu2287=) c.6921A>T (p.Leu2307=) | |
17 | g.31338779dup | CA2576223760 | NF1 | c.6877dup (p.Thr2293AsnfsTer8) c.1459dup (p.Thr487AsnfsTer8) n.2717dup c.1051dup (p.Thr351AsnfsTer8) n.3540dup c.6925dup (p.Thr2309AsnfsTer8) c.6895dup (p.Thr2299AsnfsTer8) c.6832dup (p.Thr2278AsnfsTer8) c.5830dup (p.Thr1944AsnfsTer8) c.278dup c.7031dup (n.7031dup) c.64+899dup n.309dup c.6886dup (p.Thr2296AsnfsTer8) c.6862dup (p.Thr2288AsnfsTer8) c.6922dup (p.Thr2308AsnfsTer8) | |
17 | g.31338779del | CA2580093170 | NF1 | c.6877del (p.Thr2293ProfsTer20) c.1459del (p.Thr487ProfsTer20) n.2717del c.1051del (p.Thr351ProfsTer20) n.3540del c.6925del (p.Thr2309ProfsTer20) c.6895del (p.Thr2299ProfsTer20) c.6832del (p.Thr2278ProfsTer20) c.5830del (p.Thr1944ProfsTer20) c.278del c.7031del (n.7031del) c.64+899del n.309del c.6886del (p.Thr2296ProfsTer20) c.6862del (p.Thr2288ProfsTer20) c.6922del (p.Thr2308ProfsTer20) | ClinVar |
17 | g.31338779A>C | CA399014402 | NF1 | c.6877A>C (p.Thr2293Pro) c.1459A>C (p.Thr487Pro) n.2717A>C c.1051A>C (p.Thr351Pro) n.3540A>C c.6925A>C (p.Thr2309Pro) c.6895A>C (p.Thr2299Pro) c.6832A>C (p.Thr2278Pro) c.5830A>C (p.Thr1944Pro) c.278A>C c.7031A>C (n.7031A>C) c.64+899A>C n.309A>C c.6886A>C (p.Thr2296Pro) c.6862A>C (p.Thr2288Pro) c.6922A>C (p.Thr2308Pro) | |
17 | g.31338779A>G | CA399014401 | NF1 | c.6877A>G (p.Thr2293Ala) c.1459A>G (p.Thr487Ala) n.2717A>G c.1051A>G (p.Thr351Ala) n.3540A>G c.6925A>G (p.Thr2309Ala) c.6895A>G (p.Thr2299Ala) c.6832A>G (p.Thr2278Ala) c.5830A>G (p.Thr1944Ala) c.278A>G c.7031A>G (n.7031A>G) c.64+899A>G n.309A>G c.6886A>G (p.Thr2296Ala) c.6862A>G (p.Thr2288Ala) c.6922A>G (p.Thr2308Ala) | |
17 | g.31338779A>T | CA399014400 | NF1 | c.6877A>T (p.Thr2293Ser) c.1459A>T (p.Thr487Ser) n.2717A>T c.1051A>T (p.Thr351Ser) n.3540A>T c.6925A>T (p.Thr2309Ser) c.6895A>T (p.Thr2299Ser) c.6832A>T (p.Thr2278Ser) c.5830A>T (p.Thr1944Ser) c.278A>T c.7031A>T (n.7031A>T) c.64+899A>T n.309A>T c.6886A>T (p.Thr2296Ser) c.6862A>T (p.Thr2288Ser) c.6922A>T (p.Thr2308Ser) | |
17 | g.31338780C>A | CA399014403 | NF1 | c.6878C>A (p.Thr2293Asn) c.1460C>A (p.Thr487Asn) n.2718C>A c.1052C>A (p.Thr351Asn) n.3541C>A c.6926C>A (p.Thr2309Asn) c.6896C>A (p.Thr2299Asn) c.6833C>A (p.Thr2278Asn) c.5831C>A (p.Thr1944Asn) c.279C>A c.7032C>A (n.7032C>A) c.64+900C>A n.310C>A c.6887C>A (p.Thr2296Asn) c.6863C>A (p.Thr2288Asn) c.6923C>A (p.Thr2308Asn) | ClinVar dbSNP |
17 | g.31338780C>G | CA399014404 | NF1 | c.6878C>G (p.Thr2293Ser) c.1460C>G (p.Thr487Ser) n.2718C>G c.1052C>G (p.Thr351Ser) n.3541C>G c.6926C>G (p.Thr2309Ser) c.6896C>G (p.Thr2299Ser) c.6833C>G (p.Thr2278Ser) c.5831C>G (p.Thr1944Ser) c.279C>G c.7032C>G (n.7032C>G) c.64+900C>G n.310C>G c.6887C>G (p.Thr2296Ser) c.6863C>G (p.Thr2288Ser) c.6923C>G (p.Thr2308Ser) | dbSNP |
17 | g.31338780C>T | CA399014405 | NF1 | c.6878C>T (p.Thr2293Ile) c.1460C>T (p.Thr487Ile) n.2718C>T c.1052C>T (p.Thr351Ile) n.3541C>T c.6926C>T (p.Thr2309Ile) c.6896C>T (p.Thr2299Ile) c.6833C>T (p.Thr2278Ile) c.5831C>T (p.Thr1944Ile) c.279C>T c.7032C>T (n.7032C>T) c.64+900C>T n.310C>T c.6887C>T (p.Thr2296Ile) c.6863C>T (p.Thr2288Ile) c.6923C>T (p.Thr2308Ile) | ClinVar |
17 | g.31338781del | CA2573153880 | NF1 | c.6879del (p.Lys2294AsnfsTer19) c.1461del (p.Lys488AsnfsTer19) n.2719del c.1053del (p.Lys352AsnfsTer19) n.3542del c.6927del (p.Lys2310AsnfsTer19) c.6897del (p.Lys2300AsnfsTer19) c.6834del (p.Lys2279AsnfsTer19) c.5832del (p.Lys1945AsnfsTer19) c.280del c.7033del (n.7033del) c.64+901del n.311del c.6888del (p.Lys2297AsnfsTer19) c.6864del (p.Lys2289AsnfsTer19) c.6924del (p.Lys2309AsnfsTer19) | ClinVar |
17 | g.31338781C>A | CA499234368 | NF1 | c.6879C>A (p.Thr2293=) c.1461C>A (p.Thr487=) n.2719C>A c.1053C>A (p.Thr351=) n.3542C>A c.6927C>A (p.Thr2309=) c.6897C>A (p.Thr2299=) c.6834C>A (p.Thr2278=) c.5832C>A (p.Thr1944=) c.280C>A c.7033C>A (n.7033C>A) c.64+901C>A n.311C>A c.6888C>A (p.Thr2296=) c.6864C>A (p.Thr2288=) c.6924C>A (p.Thr2308=) | dbSNP |
17 | g.31338781C= | CA2255603156 | NF1 | c.6879C= (p.Thr2293=) c.1461C= (p.Thr487=) n.2719C= c.1053C= (p.Thr351=) n.3542C= c.6927C= (p.Thr2309=) c.6897C= (p.Thr2299=) c.6834C= (p.Thr2278=) c.5832C= (p.Thr1944=) c.280C= c.7033C= (n.7033C=) c.64+901C= n.311C= c.6888C= (p.Thr2296=) c.6864C= (p.Thr2288=) c.6924C= (p.Thr2308=) | |
17 | g.31338781C>G | CA499234369 | NF1 | c.6879C>G (p.Thr2293=) c.1461C>G (p.Thr487=) n.2719C>G c.1053C>G (p.Thr351=) n.3542C>G c.6927C>G (p.Thr2309=) c.6897C>G (p.Thr2299=) c.6834C>G (p.Thr2278=) c.5832C>G (p.Thr1944=) c.280C>G c.7033C>G (n.7033C>G) c.64+901C>G n.311C>G c.6888C>G (p.Thr2296=) c.6864C>G (p.Thr2288=) c.6924C>G (p.Thr2308=) | ClinVar dbSNP gnomAD v4 |
17 | g.31338781C>T | CA499234367 | NF1 | c.6879C>T (p.Thr2293=) c.1461C>T (p.Thr487=) n.2719C>T c.1053C>T (p.Thr351=) n.3542C>T c.6927C>T (p.Thr2309=) c.6897C>T (p.Thr2299=) c.6834C>T (p.Thr2278=) c.5832C>T (p.Thr1944=) c.280C>T c.7033C>T (n.7033C>T) c.64+901C>T n.311C>T c.6888C>T (p.Thr2296=) c.6864C>T (p.Thr2288=) c.6924C>T (p.Thr2308=) | ClinVar |
17 | g.31338782A>C | CA399014406 | NF1 | c.6880A>C (p.Lys2294Gln) c.1462A>C (p.Lys488Gln) n.2720A>C c.1054A>C (p.Lys352Gln) n.3543A>C c.6928A>C (p.Lys2310Gln) c.6898A>C (p.Lys2300Gln) c.6835A>C (p.Lys2279Gln) c.5833A>C (p.Lys1945Gln) c.281A>C c.7034A>C (n.7034A>C) c.64+902A>C n.312A>C c.6889A>C (p.Lys2297Gln) c.6865A>C (p.Lys2289Gln) c.6925A>C (p.Lys2309Gln) | |
17 | g.31338782A>G | CA399014407 | NF1 | c.6880A>G (p.Lys2294Glu) c.1462A>G (p.Lys488Glu) n.2720A>G c.1054A>G (p.Lys352Glu) n.3543A>G c.6928A>G (p.Lys2310Glu) c.6898A>G (p.Lys2300Glu) c.6835A>G (p.Lys2279Glu) c.5833A>G (p.Lys1945Glu) c.281A>G c.7034A>G (n.7034A>G) c.64+902A>G n.312A>G c.6889A>G (p.Lys2297Glu) c.6865A>G (p.Lys2289Glu) c.6925A>G (p.Lys2309Glu) | ClinVar |
17 | g.31338782A>T | CA399014408 | NF1 | c.6880A>T (p.Lys2294Ter) c.1462A>T (p.Lys488Ter) n.2720A>T c.1054A>T (p.Lys352Ter) n.3543A>T c.6928A>T (p.Lys2310Ter) c.6898A>T (p.Lys2300Ter) c.6835A>T (p.Lys2279Ter) c.5833A>T (p.Lys1945Ter) c.281A>T c.7034A>T (n.7034A>T) c.64+902A>T n.312A>T c.6889A>T (p.Lys2297Ter) c.6865A>T (p.Lys2289Ter) c.6925A>T (p.Lys2309Ter) | ClinVar |
17 | g.31338784dup | CA658658593 | NF1 | c.6882dup (p.Leu2295IlefsTer6) c.1464dup (p.Leu489IlefsTer6) n.2722dup c.1056dup (p.Leu353IlefsTer6) n.3545dup c.6930dup (p.Leu2311IlefsTer6) c.6900dup (p.Leu2301IlefsTer6) c.6837dup (p.Leu2280IlefsTer6) c.5835dup (p.Leu1946IlefsTer6) c.283dup c.7036dup (n.7036dup) c.64+904dup n.314dup c.6891dup (p.Leu2298IlefsTer6) c.6867dup (p.Leu2290IlefsTer6) c.6927dup (p.Leu2310IlefsTer6) | ClinVar dbSNP |
17 | g.31338783A>C | CA399014409 | NF1 | c.6881A>C (p.Lys2294Thr) c.1463A>C (p.Lys488Thr) n.2721A>C c.1055A>C (p.Lys352Thr) n.3544A>C c.6929A>C (p.Lys2310Thr) c.6899A>C (p.Lys2300Thr) c.6836A>C (p.Lys2279Thr) c.5834A>C (p.Lys1945Thr) c.282A>C c.7035A>C (n.7035A>C) c.64+903A>C n.313A>C c.6890A>C (p.Lys2297Thr) c.6866A>C (p.Lys2289Thr) c.6926A>C (p.Lys2309Thr) | |
17 | g.31338783A>G | CA399014411 | NF1 | c.6881A>G (p.Lys2294Arg) c.1463A>G (p.Lys488Arg) n.2721A>G c.1055A>G (p.Lys352Arg) n.3544A>G c.6929A>G (p.Lys2310Arg) c.6899A>G (p.Lys2300Arg) c.6836A>G (p.Lys2279Arg) c.5834A>G (p.Lys1945Arg) c.282A>G c.7035A>G (n.7035A>G) c.64+903A>G n.313A>G c.6890A>G (p.Lys2297Arg) c.6866A>G (p.Lys2289Arg) c.6926A>G (p.Lys2309Arg) | |
17 | g.31338783A>T | CA399014410 | NF1 | c.6881A>T (p.Lys2294Ile) c.1463A>T (p.Lys488Ile) n.2721A>T c.1055A>T (p.Lys352Ile) n.3544A>T c.6929A>T (p.Lys2310Ile) c.6899A>T (p.Lys2300Ile) c.6836A>T (p.Lys2279Ile) c.5834A>T (p.Lys1945Ile) c.282A>T c.7035A>T (n.7035A>T) c.64+903A>T n.313A>T c.6890A>T (p.Lys2297Ile) c.6866A>T (p.Lys2289Ile) c.6926A>T (p.Lys2309Ile) | |
17 | g.31338789_31338813del | CA2739267437 | NF1 | c.6887_6903+8del c.1469_1485+8del n.2727_2751del c.1061_1077+8del n.3550_3566+8del c.6935_6951+8del c.6905_6921+8del c.6842_6858+8del c.5840_5856+8del c.288_304+8del c.7041_7057+8del c.64+909_64+933del n.319_335+8del c.6896_6912+8del c.6872_6888+8del c.6932_6948+8del | ClinVar |
17 | g.31338784A= | CA2255603157 | NF1 | c.6882A= (p.Lys2294=) c.1464A= (p.Lys488=) n.2722A= c.1056A= (p.Lys352=) n.3545A= c.6930A= (p.Lys2310=) c.6900A= (p.Lys2300=) c.6837A= (p.Lys2279=) c.5835A= (p.Lys1945=) c.283A= c.7036A= (n.7036A=) c.64+904A= n.314A= c.6891A= (p.Lys2297=) c.6867A= (p.Lys2289=) c.6927A= (p.Lys2309=) | |
17 | g.31338784A>C | CA198079 | NF1 | c.6882A>C (p.Lys2294Asn) c.1464A>C (p.Lys488Asn) n.2722A>C c.1056A>C (p.Lys352Asn) n.3545A>C c.6930A>C (p.Lys2310Asn) c.6900A>C (p.Lys2300Asn) c.6837A>C (p.Lys2279Asn) c.5835A>C (p.Lys1945Asn) c.283A>C c.7036A>C (n.7036A>C) c.64+904A>C n.314A>C c.6891A>C (p.Lys2297Asn) c.6867A>C (p.Lys2289Asn) c.6927A>C (p.Lys2309Asn) | ClinVar dbSNP |
17 | g.31338784A>G | CA499234370 | NF1 | c.6882A>G (p.Lys2294=) c.1464A>G (p.Lys488=) n.2722A>G c.1056A>G (p.Lys352=) n.3545A>G c.6930A>G (p.Lys2310=) c.6900A>G (p.Lys2300=) c.6837A>G (p.Lys2279=) c.5835A>G (p.Lys1945=) c.283A>G c.7036A>G (n.7036A>G) c.64+904A>G n.314A>G c.6891A>G (p.Lys2297=) c.6867A>G (p.Lys2289=) c.6927A>G (p.Lys2309=) | ClinVar gnomAD v4 |
17 | g.31338784A>T | CA399014412 | NF1 | c.6882A>T (p.Lys2294Asn) c.1464A>T (p.Lys488Asn) n.2722A>T c.1056A>T (p.Lys352Asn) n.3545A>T c.6930A>T (p.Lys2310Asn) c.6900A>T (p.Lys2300Asn) c.6837A>T (p.Lys2279Asn) c.5835A>T (p.Lys1945Asn) c.283A>T c.7036A>T (n.7036A>T) c.64+904A>T n.314A>T c.6891A>T (p.Lys2297Asn) c.6867A>T (p.Lys2289Asn) c.6927A>T (p.Lys2309Asn) | ClinVar dbSNP |
17 | g.31338785T>A | CA399014413 | NF1 | c.6883T>A (p.Leu2295Ile) c.1465T>A (p.Leu489Ile) n.2723T>A c.1057T>A (p.Leu353Ile) n.3546T>A c.6931T>A (p.Leu2311Ile) c.6901T>A (p.Leu2301Ile) c.6838T>A (p.Leu2280Ile) c.5836T>A (p.Leu1946Ile) c.284T>A c.7037T>A (n.7037T>A) c.64+905T>A n.315T>A c.6892T>A (p.Leu2298Ile) c.6868T>A (p.Leu2290Ile) c.6928T>A (p.Leu2310Ile) | dbSNP |
17 | g.31338785T>C | CA499234371 | NF1 | c.6883T>C (p.Leu2295=) c.1465T>C (p.Leu489=) n.2723T>C c.1057T>C (p.Leu353=) n.3546T>C c.6931T>C (p.Leu2311=) c.6901T>C (p.Leu2301=) c.6838T>C (p.Leu2280=) c.5836T>C (p.Leu1946=) c.284T>C c.7037T>C (n.7037T>C) c.64+905T>C n.315T>C c.6892T>C (p.Leu2298=) c.6868T>C (p.Leu2290=) c.6928T>C (p.Leu2310=) | |
17 | g.31338785T>G | CA399014414 | NF1 | c.6883T>G (p.Leu2295Val) c.1465T>G (p.Leu489Val) n.2723T>G c.1057T>G (p.Leu353Val) n.3546T>G c.6931T>G (p.Leu2311Val) c.6901T>G (p.Leu2301Val) c.6838T>G (p.Leu2280Val) c.5836T>G (p.Leu1946Val) c.284T>G c.7037T>G (n.7037T>G) c.64+905T>G n.315T>G c.6892T>G (p.Leu2298Val) c.6868T>G (p.Leu2290Val) c.6928T>G (p.Leu2310Val) | |
17 | g.31338785_31338786del | CA2809195012 | NF1 | c.6883_6884del (p.Leu2295ThrfsTer5) c.1465_1466del (p.Leu489ThrfsTer5) n.2723_2724del c.1057_1058del (p.Leu353ThrfsTer5) n.3546_3547del c.6931_6932del (p.Leu2311ThrfsTer5) c.6901_6902del (p.Leu2301ThrfsTer5) c.6838_6839del (p.Leu2280ThrfsTer5) c.5836_5837del (p.Leu1946ThrfsTer5) c.284_285del c.7037_7038del (n.7037_7038del) c.64+905_64+906del n.315_316del c.6892_6893del (p.Leu2298ThrfsTer5) c.6868_6869del (p.Leu2290ThrfsTer5) c.6928_6929del (p.Leu2310ThrfsTer5) | |
17 | g.31338786del | CA2637078894 | NF1 | c.6884del (p.Leu2295TyrfsTer18) c.1466del (p.Leu489TyrfsTer18) n.2724del c.1058del (p.Leu353TyrfsTer18) n.3547del c.6932del (p.Leu2311TyrfsTer18) c.6902del (p.Leu2301TyrfsTer18) c.6839del (p.Leu2280TyrfsTer18) c.5837del (p.Leu1946TyrfsTer18) c.285del c.7038del (n.7038del) c.64+906del n.316del c.6893del (p.Leu2298TyrfsTer18) c.6869del (p.Leu2290TyrfsTer18) c.6929del (p.Leu2310TyrfsTer18) | dbSNP gnomAD v4 |
17 | g.31338786T>A | CA399014415 | NF1 | c.6884T>A (p.Leu2295Ter) c.1466T>A (p.Leu489Ter) n.2724T>A c.1058T>A (p.Leu353Ter) n.3547T>A c.6932T>A (p.Leu2311Ter) c.6902T>A (p.Leu2301Ter) c.6839T>A (p.Leu2280Ter) c.5837T>A (p.Leu1946Ter) c.285T>A c.7038T>A (n.7038T>A) c.64+906T>A n.316T>A c.6893T>A (p.Leu2298Ter) c.6869T>A (p.Leu2290Ter) c.6929T>A (p.Leu2310Ter) | ClinVar dbSNP |
17 | g.31338786T>C | CA399014416 | NF1 | c.6884T>C (p.Leu2295Ser) c.1466T>C (p.Leu489Ser) n.2724T>C c.1058T>C (p.Leu353Ser) n.3547T>C c.6932T>C (p.Leu2311Ser) c.6902T>C (p.Leu2301Ser) c.6839T>C (p.Leu2280Ser) c.5837T>C (p.Leu1946Ser) c.285T>C c.7038T>C (n.7038T>C) c.64+906T>C n.316T>C c.6893T>C (p.Leu2298Ser) c.6869T>C (p.Leu2290Ser) c.6929T>C (p.Leu2310Ser) | |
17 | g.31338786T>G | CA399014417 | NF1 | c.6884T>G (p.Leu2295Ter) c.1466T>G (p.Leu489Ter) n.2724T>G c.1058T>G (p.Leu353Ter) n.3547T>G c.6932T>G (p.Leu2311Ter) c.6902T>G (p.Leu2301Ter) c.6839T>G (p.Leu2280Ter) c.5837T>G (p.Leu1946Ter) c.285T>G c.7038T>G (n.7038T>G) c.64+906T>G n.316T>G c.6893T>G (p.Leu2298Ter) c.6869T>G (p.Leu2290Ter) c.6929T>G (p.Leu2310Ter) | ClinVar dbSNP |
17 | g.31338786T= | CA2255603158 | NF1 | c.6884T= (p.Leu2295=) c.1466T= (p.Leu489=) n.2724T= c.1058T= (p.Leu353=) n.3547T= c.6932T= (p.Leu2311=) c.6902T= (p.Leu2301=) c.6839T= (p.Leu2280=) c.5837T= (p.Leu1946=) c.285T= c.7038T= (n.7038T=) c.64+906T= n.316T= c.6893T= (p.Leu2298=) c.6869T= (p.Leu2290=) c.6929T= (p.Leu2310=) | |
17 | g.31338786_31338788del | CA2695225190 | NF1 | c.6884_6886del (p.Leu2295Ter) c.1466_1468del (p.Leu489Ter) n.2724_2726del c.1058_1060del (p.Leu353Ter) n.3547_3549del c.6932_6934del (p.Leu2311Ter) c.6902_6904del (p.Leu2301Ter) c.6839_6841del (p.Leu2280Ter) c.5837_5839del (p.Leu1946Ter) c.285_287del c.7038_7040del (n.7038_7040del) c.64+906_64+908del n.316_318del c.6893_6895del (p.Leu2298Ter) c.6869_6871del (p.Leu2290Ter) c.6929_6931del (p.Leu2310Ter) | |
17 | g.31338787A= | CA2255603159 | NF1 | c.6885A= (p.Leu2295=) c.1467A= (p.Leu489=) n.2725A= c.1059A= (p.Leu353=) n.3548A= c.6933A= (p.Leu2311=) c.6903A= (p.Leu2301=) c.6840A= (p.Leu2280=) c.5838A= (p.Leu1946=) c.286A= c.7039A= (n.7039A=) c.64+907A= n.317A= c.6894A= (p.Leu2298=) c.6870A= (p.Leu2290=) c.6930A= (p.Leu2310=) | |
17 | g.31338787A>C | CA8487447 | NF1 | c.6885A>C (p.Leu2295Phe) c.1467A>C (p.Leu489Phe) n.2725A>C c.1059A>C (p.Leu353Phe) n.3548A>C c.6933A>C (p.Leu2311Phe) c.6903A>C (p.Leu2301Phe) c.6840A>C (p.Leu2280Phe) c.5838A>C (p.Leu1946Phe) c.286A>C c.7039A>C (n.7039A>C) c.64+907A>C n.317A>C c.6894A>C (p.Leu2298Phe) c.6870A>C (p.Leu2290Phe) c.6930A>C (p.Leu2310Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.31338787A>G | CA499234372 | NF1 | c.6885A>G (p.Leu2295=) c.1467A>G (p.Leu489=) n.2725A>G c.1059A>G (p.Leu353=) n.3548A>G c.6933A>G (p.Leu2311=) c.6903A>G (p.Leu2301=) c.6840A>G (p.Leu2280=) c.5838A>G (p.Leu1946=) c.286A>G c.7039A>G (n.7039A>G) c.64+907A>G n.317A>G c.6894A>G (p.Leu2298=) c.6870A>G (p.Leu2290=) c.6930A>G (p.Leu2310=) | ClinVar |
17 | g.31338787A>T | CA399014418 | NF1 | c.6885A>T (p.Leu2295Phe) c.1467A>T (p.Leu489Phe) n.2725A>T c.1059A>T (p.Leu353Phe) n.3548A>T c.6933A>T (p.Leu2311Phe) c.6903A>T (p.Leu2301Phe) c.6840A>T (p.Leu2280Phe) c.5838A>T (p.Leu1946Phe) c.286A>T c.7039A>T (n.7039A>T) c.64+907A>T n.317A>T c.6894A>T (p.Leu2298Phe) c.6870A>T (p.Leu2290Phe) c.6930A>T (p.Leu2310Phe) | dbSNP |
17 | g.31338788del | CA2695225191 | NF1 | c.6886del (p.Gln2296SerfsTer17) c.1468del (p.Gln490SerfsTer17) n.2726del c.1060del (p.Gln354SerfsTer17) n.3549del c.6934del (p.Gln2312SerfsTer17) c.6904del (p.Gln2302SerfsTer17) c.6841del (p.Gln2281SerfsTer17) c.5839del (p.Gln1947SerfsTer17) c.287del c.7040del (n.7040del) c.64+908del n.318del c.6895del (p.Gln2299SerfsTer17) c.6871del (p.Gln2291SerfsTer17) c.6931del (p.Gln2311SerfsTer17) | |
17 | g.31338788C>A | CA399014419 | NF1 | c.6886C>A (p.Gln2296Lys) c.1468C>A (p.Gln490Lys) n.2726C>A c.1060C>A (p.Gln354Lys) n.3549C>A c.6934C>A (p.Gln2312Lys) c.6904C>A (p.Gln2302Lys) c.6841C>A (p.Gln2281Lys) c.5839C>A (p.Gln1947Lys) c.287C>A c.7040C>A (n.7040C>A) c.64+908C>A n.318C>A c.6895C>A (p.Gln2299Lys) c.6871C>A (p.Gln2291Lys) c.6931C>A (p.Gln2311Lys) | dbSNP |
17 | g.31338788C= | CA2255603160 | NF1 | c.6886C= (p.Gln2296=) c.1468C= (p.Gln490=) n.2726C= c.1060C= (p.Gln354=) n.3549C= c.6934C= (p.Gln2312=) c.6904C= (p.Gln2302=) c.6841C= (p.Gln2281=) c.5839C= (p.Gln1947=) c.287C= c.7040C= (n.7040C=) c.64+908C= n.318C= c.6895C= (p.Gln2299=) c.6871C= (p.Gln2291=) c.6931C= (p.Gln2311=) | |
17 | g.31338788C>G | CA399014420 | NF1 | c.6886C>G (p.Gln2296Glu) c.1468C>G (p.Gln490Glu) n.2726C>G c.1060C>G (p.Gln354Glu) n.3549C>G c.6934C>G (p.Gln2312Glu) c.6904C>G (p.Gln2302Glu) c.6841C>G (p.Gln2281Glu) c.5839C>G (p.Gln1947Glu) c.287C>G c.7040C>G (n.7040C>G) c.64+908C>G n.318C>G c.6895C>G (p.Gln2299Glu) c.6871C>G (p.Gln2291Glu) c.6931C>G (p.Gln2311Glu) | |
17 | g.31338788C>T | CA16043526 | NF1 | c.6886C>T (p.Gln2296Ter) c.1468C>T (p.Gln490Ter) n.2726C>T c.1060C>T (p.Gln354Ter) n.3549C>T c.6934C>T (p.Gln2312Ter) c.6904C>T (p.Gln2302Ter) c.6841C>T (p.Gln2281Ter) c.5839C>T (p.Gln1947Ter) c.287C>T c.7040C>T (n.7040C>T) c.64+908C>T n.318C>T c.6895C>T (p.Gln2299Ter) c.6871C>T (p.Gln2291Ter) c.6931C>T (p.Gln2311Ter) | ClinVar dbSNP |
17 | g.31338789A>C | CA399014421 | NF1 | c.6887A>C (p.Gln2296Pro) c.1469A>C (p.Gln490Pro) n.2727A>C c.1061A>C (p.Gln354Pro) n.3550A>C c.6935A>C (p.Gln2312Pro) c.6905A>C (p.Gln2302Pro) c.6842A>C (p.Gln2281Pro) c.5840A>C (p.Gln1947Pro) c.288A>C c.7041A>C (n.7041A>C) c.64+909A>C n.319A>C c.6896A>C (p.Gln2299Pro) c.6872A>C (p.Gln2291Pro) c.6932A>C (p.Gln2311Pro) | |
17 | g.31338789A>G | CA399014423 | NF1 | c.6887A>G (p.Gln2296Arg) c.1469A>G (p.Gln490Arg) n.2727A>G c.1061A>G (p.Gln354Arg) n.3550A>G c.6935A>G (p.Gln2312Arg) c.6905A>G (p.Gln2302Arg) c.6842A>G (p.Gln2281Arg) c.5840A>G (p.Gln1947Arg) c.288A>G c.7041A>G (n.7041A>G) c.64+909A>G n.319A>G c.6896A>G (p.Gln2299Arg) c.6872A>G (p.Gln2291Arg) c.6932A>G (p.Gln2311Arg) | ClinVar gnomAD v4 |
17 | g.31338789A>T | CA399014422 | NF1 | c.6887A>T (p.Gln2296Leu) c.1469A>T (p.Gln490Leu) n.2727A>T c.1061A>T (p.Gln354Leu) n.3550A>T c.6935A>T (p.Gln2312Leu) c.6905A>T (p.Gln2302Leu) c.6842A>T (p.Gln2281Leu) c.5840A>T (p.Gln1947Leu) c.288A>T c.7041A>T (n.7041A>T) c.64+909A>T n.319A>T c.6896A>T (p.Gln2299Leu) c.6872A>T (p.Gln2291Leu) c.6932A>T (p.Gln2311Leu) | |
17 | g.31338789_31338790insATTA | CA2637078899 | NF1 | c.6887_6888insATTA (p.Pro2297LeufsTer5) c.1469_1470insATTA (p.Pro491LeufsTer5) n.2727_2728insATTA c.1061_1062insATTA (p.Pro355LeufsTer5) n.3550_3551insATTA c.6935_6936insATTA (p.Pro2313LeufsTer5) c.6905_6906insATTA (p.Pro2303LeufsTer5) c.6842_6843insATTA (p.Pro2282LeufsTer5) c.5840_5841insATTA (p.Pro1948LeufsTer5) c.288_289insATTA c.7041_7042insATTA (n.7041_7042insATTA) c.64+909_64+910insATTA n.319_320insATTA c.6896_6897insATTA (p.Pro2300LeufsTer5) c.6872_6873insATTA (p.Pro2292LeufsTer5) c.6932_6933insATTA (p.Pro2312LeufsTer5) | gnomAD v4 |
17 | g.31338789_31338790delinsAG | CA2255603161 | NF1 | c.6887_6888delinsAG (p.Gln2296=) c.1469_1470delinsAG (p.Gln490=) n.2727_2728delinsAG c.1061_1062delinsAG (p.Gln354=) n.3550_3551delinsAG c.6935_6936delinsAG (p.Gln2312=) c.6905_6906delinsAG (p.Gln2302=) c.6842_6843delinsAG (p.Gln2281=) c.5840_5841delinsAG (p.Gln1947=) c.288_289delinsAG c.7041_7042delinsAG (n.7041_7042delinsAG) c.64+909_64+910delinsAG n.319_320delinsAG c.6896_6897delinsAG (p.Gln2299=) c.6872_6873delinsAG (p.Gln2291=) c.6932_6933delinsAG (p.Gln2311=) | |
17 | g.31338790del | CA499234374 | NF1 | c.6888del (p.Gln2296HisfsTer17) c.1470del (p.Gln490HisfsTer17) n.2728del c.1062del (p.Gln354HisfsTer17) n.3551del c.6936del (p.Gln2312HisfsTer17) c.6906del (p.Gln2302HisfsTer17) c.6843del (p.Gln2281HisfsTer17) c.5841del (p.Gln1947HisfsTer17) c.289del c.7042del (n.7042del) c.64+910del n.320del c.6897del (p.Gln2299HisfsTer17) c.6873del (p.Gln2291HisfsTer17) c.6933del (p.Gln2311HisfsTer17) | ClinVar dbSNP COSMIC COSMIC |
17 | g.31338790G>A | CA499234373 | NF1 | c.6888G>A (p.Gln2296=) c.1470G>A (p.Gln490=) n.2728G>A c.1062G>A (p.Gln354=) n.3551G>A c.6936G>A (p.Gln2312=) c.6906G>A (p.Gln2302=) c.6843G>A (p.Gln2281=) c.5841G>A (p.Gln1947=) c.289G>A c.7042G>A (n.7042G>A) c.64+910G>A n.320G>A c.6897G>A (p.Gln2299=) c.6873G>A (p.Gln2291=) c.6933G>A (p.Gln2311=) | ClinVar dbSNP |
17 | g.31338790G>C | CA399014424 | NF1 | c.6888G>C (p.Gln2296His) c.1470G>C (p.Gln490His) n.2728G>C c.1062G>C (p.Gln354His) n.3551G>C c.6936G>C (p.Gln2312His) c.6906G>C (p.Gln2302His) c.6843G>C (p.Gln2281His) c.5841G>C (p.Gln1947His) c.289G>C c.7042G>C (n.7042G>C) c.64+910G>C n.320G>C c.6897G>C (p.Gln2299His) c.6873G>C (p.Gln2291His) c.6933G>C (p.Gln2311His) | |
17 | g.31338790G= | CA2255603162 | NF1 | c.6888G= (p.Gln2296=) c.1470G= (p.Gln490=) n.2728G= c.1062G= (p.Gln354=) n.3551G= c.6936G= (p.Gln2312=) c.6906G= (p.Gln2302=) c.6843G= (p.Gln2281=) c.5841G= (p.Gln1947=) c.289G= c.7042G= (n.7042G=) c.64+910G= n.320G= c.6897G= (p.Gln2299=) c.6873G= (p.Gln2291=) c.6933G= (p.Gln2311=) | |
17 | g.31338790G>T | CA399014425 | NF1 | c.6888G>T (p.Gln2296His) c.1470G>T (p.Gln490His) n.2728G>T c.1062G>T (p.Gln354His) n.3551G>T c.6936G>T (p.Gln2312His) c.6906G>T (p.Gln2302His) c.6843G>T (p.Gln2281His) c.5841G>T (p.Gln1947His) c.289G>T c.7042G>T (n.7042G>T) c.64+910G>T n.320G>T c.6897G>T (p.Gln2299His) c.6873G>T (p.Gln2291His) c.6933G>T (p.Gln2311His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.31338791C>A | CA399014426 | NF1 | c.6889C>A (p.Pro2297Thr) c.1471C>A (p.Pro491Thr) n.2729C>A c.1063C>A (p.Pro355Thr) n.3552C>A c.6937C>A (p.Pro2313Thr) c.6907C>A (p.Pro2303Thr) c.6844C>A (p.Pro2282Thr) c.5842C>A (p.Pro1948Thr) c.290C>A c.7043C>A (n.7043C>A) c.64+911C>A n.321C>A c.6898C>A (p.Pro2300Thr) c.6874C>A (p.Pro2292Thr) c.6934C>A (p.Pro2312Thr) | dbSNP gnomAD v4 |
17 | g.31338791C>G | CA399014427 | NF1 | c.6889C>G (p.Pro2297Ala) c.1471C>G (p.Pro491Ala) n.2729C>G c.1063C>G (p.Pro355Ala) n.3552C>G c.6937C>G (p.Pro2313Ala) c.6907C>G (p.Pro2303Ala) c.6844C>G (p.Pro2282Ala) c.5842C>G (p.Pro1948Ala) c.290C>G c.7043C>G (n.7043C>G) c.64+911C>G n.321C>G c.6898C>G (p.Pro2300Ala) c.6874C>G (p.Pro2292Ala) c.6934C>G (p.Pro2312Ala) | dbSNP |
17 | g.31338791C>T | CA399014428 | NF1 | c.6889C>T (p.Pro2297Ser) c.1471C>T (p.Pro491Ser) n.2729C>T c.1063C>T (p.Pro355Ser) n.3552C>T c.6937C>T (p.Pro2313Ser) c.6907C>T (p.Pro2303Ser) c.6844C>T (p.Pro2282Ser) c.5842C>T (p.Pro1948Ser) c.290C>T c.7043C>T (n.7043C>T) c.64+911C>T n.321C>T c.6898C>T (p.Pro2300Ser) c.6874C>T (p.Pro2292Ser) c.6934C>T (p.Pro2312Ser) | dbSNP |
17 | g.31338792C>A | CA399014429 | NF1 | c.6890C>A (p.Pro2297Gln) c.1472C>A (p.Pro491Gln) n.2730C>A c.1064C>A (p.Pro355Gln) n.3553C>A c.6938C>A (p.Pro2313Gln) c.6908C>A (p.Pro2303Gln) c.6845C>A (p.Pro2282Gln) c.5843C>A (p.Pro1948Gln) c.291C>A c.7044C>A (n.7044C>A) c.64+912C>A n.322C>A c.6899C>A (p.Pro2300Gln) c.6875C>A (p.Pro2292Gln) c.6935C>A (p.Pro2312Gln) | gnomAD v4 |
17 | g.31338792C>G | CA399014430 | NF1 | c.6890C>G (p.Pro2297Arg) c.1472C>G (p.Pro491Arg) n.2730C>G c.1064C>G (p.Pro355Arg) n.3553C>G c.6938C>G (p.Pro2313Arg) c.6908C>G (p.Pro2303Arg) c.6845C>G (p.Pro2282Arg) c.5843C>G (p.Pro1948Arg) c.291C>G c.7044C>G (n.7044C>G) c.64+912C>G n.322C>G c.6899C>G (p.Pro2300Arg) c.6875C>G (p.Pro2292Arg) c.6935C>G (p.Pro2312Arg) | |
17 | g.31338792C>T | CA399014431 | NF1 | c.6890C>T (p.Pro2297Leu) c.1472C>T (p.Pro491Leu) n.2730C>T c.1064C>T (p.Pro355Leu) n.3553C>T c.6938C>T (p.Pro2313Leu) c.6908C>T (p.Pro2303Leu) c.6845C>T (p.Pro2282Leu) c.5843C>T (p.Pro1948Leu) c.291C>T c.7044C>T (n.7044C>T) c.64+912C>T n.322C>T c.6899C>T (p.Pro2300Leu) c.6875C>T (p.Pro2292Leu) c.6935C>T (p.Pro2312Leu) | ClinVar dbSNP |
17 | g.31338793del | CA2499224202 | NF1 | c.6891del (p.Leu2298PhefsTer15) c.1473del (p.Leu492PhefsTer15) n.2731del c.1065del (p.Leu356PhefsTer15) n.3554del c.6939del (p.Leu2314PhefsTer15) c.6909del (p.Leu2304PhefsTer15) c.6846del (p.Leu2283PhefsTer15) c.5844del (p.Leu1949PhefsTer15) c.292del c.7045del (n.7045del) c.64+913del n.323del c.6900del (p.Leu2301PhefsTer15) c.6876del (p.Leu2293PhefsTer15) c.6936del (p.Leu2313PhefsTer15) | ClinVar dbSNP |
17 | g.31338793A>C | CA499234375 | NF1 | c.6891A>C (p.Pro2297=) c.1473A>C (p.Pro491=) n.2731A>C c.1065A>C (p.Pro355=) n.3554A>C c.6939A>C (p.Pro2313=) c.6909A>C (p.Pro2303=) c.6846A>C (p.Pro2282=) c.5844A>C (p.Pro1948=) c.292A>C c.7045A>C (n.7045A>C) c.64+913A>C n.323A>C c.6900A>C (p.Pro2300=) c.6876A>C (p.Pro2292=) c.6936A>C (p.Pro2312=) | |
17 | g.31338793A>G | CA499234376 | NF1 | c.6891A>G (p.Pro2297=) c.1473A>G (p.Pro491=) n.2731A>G c.1065A>G (p.Pro355=) n.3554A>G c.6939A>G (p.Pro2313=) c.6909A>G (p.Pro2303=) c.6846A>G (p.Pro2282=) c.5844A>G (p.Pro1948=) c.292A>G c.7045A>G (n.7045A>G) c.64+913A>G n.323A>G c.6900A>G (p.Pro2300=) c.6876A>G (p.Pro2292=) c.6936A>G (p.Pro2312=) | |
17 | g.31338793A>T | CA499234377 | NF1 | c.6891A>T (p.Pro2297=) c.1473A>T (p.Pro491=) n.2731A>T c.1065A>T (p.Pro355=) n.3554A>T c.6939A>T (p.Pro2313=) c.6909A>T (p.Pro2303=) c.6846A>T (p.Pro2282=) c.5844A>T (p.Pro1948=) c.292A>T c.7045A>T (n.7045A>T) c.64+913A>T n.323A>T c.6900A>T (p.Pro2300=) c.6876A>T (p.Pro2292=) c.6936A>T (p.Pro2312=) | dbSNP |
17 | g.31338794C>A | CA399014432 | NF1 | c.6892C>A (p.Leu2298Ile) c.1474C>A (p.Leu492Ile) n.2732C>A c.1066C>A (p.Leu356Ile) n.3555C>A c.6940C>A (p.Leu2314Ile) c.6910C>A (p.Leu2304Ile) c.6847C>A (p.Leu2283Ile) c.5845C>A (p.Leu1949Ile) c.293C>A c.7046C>A (n.7046C>A) c.64+914C>A n.324C>A c.6901C>A (p.Leu2301Ile) c.6877C>A (p.Leu2293Ile) c.6937C>A (p.Leu2313Ile) | |
17 | g.31338794C= | CA2255603163 | NF1 | c.6892C= (p.Leu2298=) c.1474C= (p.Leu492=) n.2732C= c.1066C= (p.Leu356=) n.3555C= c.6940C= (p.Leu2314=) c.6910C= (p.Leu2304=) c.6847C= (p.Leu2283=) c.5845C= (p.Leu1949=) c.293C= c.7046C= (n.7046C=) c.64+914C= n.324C= c.6901C= (p.Leu2301=) c.6877C= (p.Leu2293=) c.6937C= (p.Leu2313=) | |
17 | g.31338794C>G | CA399014433 | NF1 | c.6892C>G (p.Leu2298Val) c.1474C>G (p.Leu492Val) n.2732C>G c.1066C>G (p.Leu356Val) n.3555C>G c.6940C>G (p.Leu2314Val) c.6910C>G (p.Leu2304Val) c.6847C>G (p.Leu2283Val) c.5845C>G (p.Leu1949Val) c.293C>G c.7046C>G (n.7046C>G) c.64+914C>G n.324C>G c.6901C>G (p.Leu2301Val) c.6877C>G (p.Leu2293Val) c.6937C>G (p.Leu2313Val) | |
17 | g.31338794C>T | CA399014434 | NF1 | c.6892C>T (p.Leu2298Phe) c.1474C>T (p.Leu492Phe) n.2732C>T c.1066C>T (p.Leu356Phe) n.3555C>T c.6940C>T (p.Leu2314Phe) c.6910C>T (p.Leu2304Phe) c.6847C>T (p.Leu2283Phe) c.5845C>T (p.Leu1949Phe) c.293C>T c.7046C>T (n.7046C>T) c.64+914C>T n.324C>T c.6901C>T (p.Leu2301Phe) c.6877C>T (p.Leu2293Phe) c.6937C>T (p.Leu2313Phe) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.31338795T>A | CA399014437 | NF1 | c.6893T>A (p.Leu2298His) c.1475T>A (p.Leu492His) n.2733T>A c.1067T>A (p.Leu356His) n.3556T>A c.6941T>A (p.Leu2314His) c.6911T>A (p.Leu2304His) c.6848T>A (p.Leu2283His) c.5846T>A (p.Leu1949His) c.294T>A c.7047T>A (n.7047T>A) c.64+915T>A n.325T>A c.6902T>A (p.Leu2301His) c.6878T>A (p.Leu2293His) c.6938T>A (p.Leu2313His) | dbSNP |
17 | g.31338795T>C | CA399014436 | NF1 | c.6893T>C (p.Leu2298Pro) c.1475T>C (p.Leu492Pro) n.2733T>C c.1067T>C (p.Leu356Pro) n.3556T>C c.6941T>C (p.Leu2314Pro) c.6911T>C (p.Leu2304Pro) c.6848T>C (p.Leu2283Pro) c.5846T>C (p.Leu1949Pro) c.294T>C c.7047T>C (n.7047T>C) c.64+915T>C n.325T>C c.6902T>C (p.Leu2301Pro) c.6878T>C (p.Leu2293Pro) c.6938T>C (p.Leu2313Pro) | dbSNP |
17 | g.31338795T>G | CA399014435 | NF1 | c.6893T>G (p.Leu2298Arg) c.1475T>G (p.Leu492Arg) n.2733T>G c.1067T>G (p.Leu356Arg) n.3556T>G c.6941T>G (p.Leu2314Arg) c.6911T>G (p.Leu2304Arg) c.6848T>G (p.Leu2283Arg) c.5846T>G (p.Leu1949Arg) c.294T>G c.7047T>G (n.7047T>G) c.64+915T>G n.325T>G c.6902T>G (p.Leu2301Arg) c.6878T>G (p.Leu2293Arg) c.6938T>G (p.Leu2313Arg) | |
17 | g.31338796del | CA2580093172 | NF1 | c.6894del (p.Asn2300IlefsTer13) c.1476del (p.Asn494IlefsTer13) n.2734del c.1068del (p.Asn358IlefsTer13) n.3557del c.6942del (p.Asn2316IlefsTer13) c.6912del (p.Asn2306IlefsTer13) c.6849del (p.Asn2285IlefsTer13) c.5847del (p.Asn1951IlefsTer13) c.295del c.7048del (n.7048del) c.64+916del n.326del c.6903del (p.Asn2303IlefsTer13) c.6879del (p.Asn2295IlefsTer13) c.6939del (p.Asn2315IlefsTer13) | ClinVar |
17 | g.31338795_31338800delinsTTCTTA | CA2255603164 | NF1 | c.6893_6898delinsTTCTTA (p.Leu2298=) c.1475_1480delinsTTCTTA (p.Leu492=) n.2733_2738delinsTTCTTA c.1067_1072delinsTTCTTA (p.Leu356=) n.3556_3561delinsTTCTTA c.6941_6946delinsTTCTTA (p.Leu2314=) c.6911_6916delinsTTCTTA (p.Leu2304=) c.6848_6853delinsTTCTTA (p.Leu2283=) c.5846_5851delinsTTCTTA (p.Leu1949=) c.294_299delinsTTCTTA c.7047_7052delinsTTCTTA (n.7047_7052delinsTTCTTA) c.64+915_64+920delinsTTCTTA n.325_330delinsTTCTTA c.6902_6907delinsTTCTTA (p.Leu2301=) c.6878_6883delinsTTCTTA (p.Leu2293=) c.6938_6943delinsTTCTTA (p.Leu2313=) | |
17 | g.31338796T>A | CA499234378 | NF1 | c.6894T>A (p.Leu2298=) c.1476T>A (p.Leu492=) n.2734T>A c.1068T>A (p.Leu356=) n.3557T>A c.6942T>A (p.Leu2314=) c.6912T>A (p.Leu2304=) c.6849T>A (p.Leu2283=) c.5847T>A (p.Leu1949=) c.295T>A c.7048T>A (n.7048T>A) c.64+916T>A n.326T>A c.6903T>A (p.Leu2301=) c.6879T>A (p.Leu2293=) c.6939T>A (p.Leu2313=) | ClinVar dbSNP |
17 | g.31338796T>C | CA499234379 | NF1 | c.6894T>C (p.Leu2298=) c.1476T>C (p.Leu492=) n.2734T>C c.1068T>C (p.Leu356=) n.3557T>C c.6942T>C (p.Leu2314=) c.6912T>C (p.Leu2304=) c.6849T>C (p.Leu2283=) c.5847T>C (p.Leu1949=) c.295T>C c.7048T>C (n.7048T>C) c.64+916T>C n.326T>C c.6903T>C (p.Leu2301=) c.6879T>C (p.Leu2293=) c.6939T>C (p.Leu2313=) | gnomAD v4 |
17 | g.31338796T>G | CA499234380 | NF1 | c.6894T>G (p.Leu2298=) c.1476T>G (p.Leu492=) n.2734T>G c.1068T>G (p.Leu356=) n.3557T>G c.6942T>G (p.Leu2314=) c.6912T>G (p.Leu2304=) c.6849T>G (p.Leu2283=) c.5847T>G (p.Leu1949=) c.295T>G c.7048T>G (n.7048T>G) c.64+916T>G n.326T>G c.6903T>G (p.Leu2301=) c.6879T>G (p.Leu2293=) c.6939T>G (p.Leu2313=) | ClinVar dbSNP |
17 | g.31338796T= | CA2255603165 | NF1 | c.6894T= (p.Leu2298=) c.1476T= (p.Leu492=) n.2734T= c.1068T= (p.Leu356=) n.3557T= c.6942T= (p.Leu2314=) c.6912T= (p.Leu2304=) c.6849T= (p.Leu2283=) c.5847T= (p.Leu1949=) c.295T= c.7048T= (n.7048T=) c.64+916T= n.326T= c.6903T= (p.Leu2301=) c.6879T= (p.Leu2293=) c.6939T= (p.Leu2313=) | |
17 | g.31338796_31338800del | CA10581295 | NF1 | c.6894_6898del (p.Leu2299Ter) c.1476_1480del (p.Leu493Ter) n.2734_2738del c.1068_1072del (p.Leu357Ter) n.3557_3561del c.6942_6946del (p.Leu2315Ter) c.6912_6916del (p.Leu2305Ter) c.6849_6853del (p.Leu2284Ter) c.5847_5851del (p.Leu1950Ter) c.295_299del c.7048_7052del (n.7048_7052del) c.64+916_64+920del n.326_330del c.6903_6907del (p.Leu2302Ter) c.6879_6883del (p.Leu2294Ter) c.6939_6943del (p.Leu2314Ter) | ClinVar dbSNP |
17 | g.31338796_31338797insG | CA658761001 | NF1 | c.6894_6895insG (p.Leu2299AlafsTer2) c.1476_1477insG (p.Leu493AlafsTer2) n.2734_2735insG c.1068_1069insG (p.Leu357AlafsTer2) n.3557_3558insG c.6942_6943insG (p.Leu2315AlafsTer2) c.6912_6913insG (p.Leu2305AlafsTer2) c.6849_6850insG (p.Leu2284AlafsTer2) c.5847_5848insG (p.Leu1950AlafsTer2) c.295_296insG c.7048_7049insG (n.7048_7049insG) c.64+916_64+917insG n.326_327insG c.6903_6904insG (p.Leu2302AlafsTer2) c.6879_6880insG (p.Leu2294AlafsTer2) c.6939_6940insG (p.Leu2314AlafsTer2) | |
17 | g.31338797del | CA2739267438 | NF1 | c.6895del (p.Asn2300IlefsTer13) c.1477del (p.Asn494IlefsTer13) n.2735del c.1069del (p.Asn358IlefsTer13) n.3558del c.6943del (p.Asn2316IlefsTer13) c.6913del (p.Asn2306IlefsTer13) c.6850del (p.Asn2285IlefsTer13) c.5848del (p.Asn1951IlefsTer13) c.296del c.7049del (n.7049del) c.64+917del n.327del c.6904del (p.Asn2303IlefsTer13) c.6880del (p.Asn2295IlefsTer13) c.6940del (p.Asn2315IlefsTer13) | ClinVar |
17 | g.31338797C>A | CA399014438 | NF1 | c.6895C>A (p.Leu2299Ile) c.1477C>A (p.Leu493Ile) n.2735C>A c.1069C>A (p.Leu357Ile) n.3558C>A c.6943C>A (p.Leu2315Ile) c.6913C>A (p.Leu2305Ile) c.6850C>A (p.Leu2284Ile) c.5848C>A (p.Leu1950Ile) c.296C>A c.7049C>A (n.7049C>A) c.64+917C>A n.327C>A c.6904C>A (p.Leu2302Ile) c.6880C>A (p.Leu2294Ile) c.6940C>A (p.Leu2314Ile) | |
17 | g.31338797C>G | CA399014439 | NF1 | c.6895C>G (p.Leu2299Val) c.1477C>G (p.Leu493Val) n.2735C>G c.1069C>G (p.Leu357Val) n.3558C>G c.6943C>G (p.Leu2315Val) c.6913C>G (p.Leu2305Val) c.6850C>G (p.Leu2284Val) c.5848C>G (p.Leu1950Val) c.296C>G c.7049C>G (n.7049C>G) c.64+917C>G n.327C>G c.6904C>G (p.Leu2302Val) c.6880C>G (p.Leu2294Val) c.6940C>G (p.Leu2314Val) | |
17 | g.31338797C>T | CA399014440 | NF1 | c.6895C>T (p.Leu2299Phe) c.1477C>T (p.Leu493Phe) n.2735C>T c.1069C>T (p.Leu357Phe) n.3558C>T c.6943C>T (p.Leu2315Phe) c.6913C>T (p.Leu2305Phe) c.6850C>T (p.Leu2284Phe) c.5848C>T (p.Leu1950Phe) c.296C>T c.7049C>T (n.7049C>T) c.64+917C>T n.327C>T c.6904C>T (p.Leu2302Phe) c.6880C>T (p.Leu2294Phe) c.6940C>T (p.Leu2314Phe) | |
17 | g.31338798T>A | CA399014441 | NF1 | c.6896T>A (p.Leu2299His) c.1478T>A (p.Leu493His) n.2736T>A c.1070T>A (p.Leu357His) n.3559T>A c.6944T>A (p.Leu2315His) c.6914T>A (p.Leu2305His) c.6851T>A (p.Leu2284His) c.5849T>A (p.Leu1950His) c.297T>A c.7050T>A (n.7050T>A) c.64+918T>A n.328T>A c.6905T>A (p.Leu2302His) c.6881T>A (p.Leu2294His) c.6941T>A (p.Leu2314His) | |
17 | g.31338798T>C | CA399014442 | NF1 | c.6896T>C (p.Leu2299Pro) c.1478T>C (p.Leu493Pro) n.2736T>C c.1070T>C (p.Leu357Pro) n.3559T>C c.6944T>C (p.Leu2315Pro) c.6914T>C (p.Leu2305Pro) c.6851T>C (p.Leu2284Pro) c.5849T>C (p.Leu1950Pro) c.297T>C c.7050T>C (n.7050T>C) c.64+918T>C n.328T>C c.6905T>C (p.Leu2302Pro) c.6881T>C (p.Leu2294Pro) c.6941T>C (p.Leu2314Pro) | |
17 | g.31338798T>G | CA399014443 | NF1 | c.6896T>G (p.Leu2299Arg) c.1478T>G (p.Leu493Arg) n.2736T>G c.1070T>G (p.Leu357Arg) n.3559T>G c.6944T>G (p.Leu2315Arg) c.6914T>G (p.Leu2305Arg) c.6851T>G (p.Leu2284Arg) c.5849T>G (p.Leu1950Arg) c.297T>G c.7050T>G (n.7050T>G) c.64+918T>G n.328T>G c.6905T>G (p.Leu2302Arg) c.6881T>G (p.Leu2294Arg) c.6941T>G (p.Leu2314Arg) | |
17 | g.31338798T= | CA2255603166 | NF1 | c.6896T= (p.Leu2299=) c.1478T= (p.Leu493=) n.2736T= c.1070T= (p.Leu357=) n.3559T= c.6944T= (p.Leu2315=) c.6914T= (p.Leu2305=) c.6851T= (p.Leu2284=) c.5849T= (p.Leu1950=) c.297T= c.7050T= (n.7050T=) c.64+918T= n.328T= c.6905T= (p.Leu2302=) c.6881T= (p.Leu2294=) c.6941T= (p.Leu2314=) | |
17 | g.31338798_31338799insATTAT | CA2580093174 | NF1 | c.6896_6897insATTAT (p.Asn2300LeufsTer15) c.1478_1479insATTAT (p.Asn494LeufsTer15) n.2736_2737insATTAT c.1070_1071insATTAT (p.Asn358LeufsTer15) n.3559_3560insATTAT c.6944_6945insATTAT (p.Asn2316LeufsTer15) c.6914_6915insATTAT (p.Asn2306LeufsTer15) c.6851_6852insATTAT (p.Asn2285LeufsTer15) c.5849_5850insATTAT (p.Asn1951LeufsTer15) c.297_298insATTAT c.7050_7051insATTAT (n.7050_7051insATTAT) c.64+918_64+919insATTAT n.328_329insATTAT c.6905_6906insATTAT (p.Asn2303LeufsTer15) c.6881_6882insATTAT (p.Asn2295LeufsTer15) c.6941_6942insATTAT (p.Asn2315LeufsTer15) | ClinVar |
17 | g.31338799T>A | CA499234381 | NF1 | c.6897T>A (p.Leu2299=) c.1479T>A (p.Leu493=) n.2737T>A c.1071T>A (p.Leu357=) n.3560T>A c.6945T>A (p.Leu2315=) c.6915T>A (p.Leu2305=) c.6852T>A (p.Leu2284=) c.5850T>A (p.Leu1950=) c.298T>A c.7051T>A (n.7051T>A) c.64+919T>A n.329T>A c.6906T>A (p.Leu2302=) c.6882T>A (p.Leu2294=) c.6942T>A (p.Leu2314=) | dbSNP |
17 | g.31338799T>C | CA499234382 | NF1 | c.6897T>C (p.Leu2299=) c.1479T>C (p.Leu493=) n.2737T>C c.1071T>C (p.Leu357=) n.3560T>C c.6945T>C (p.Leu2315=) c.6915T>C (p.Leu2305=) c.6852T>C (p.Leu2284=) c.5850T>C (p.Leu1950=) c.298T>C c.7051T>C (n.7051T>C) c.64+919T>C n.329T>C c.6906T>C (p.Leu2302=) c.6882T>C (p.Leu2294=) c.6942T>C (p.Leu2314=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.31338799T>G | CA499234383 | NF1 | c.6897T>G (p.Leu2299=) c.1479T>G (p.Leu493=) n.2737T>G c.1071T>G (p.Leu357=) n.3560T>G c.6945T>G (p.Leu2315=) c.6915T>G (p.Leu2305=) c.6852T>G (p.Leu2284=) c.5850T>G (p.Leu1950=) c.298T>G c.7051T>G (n.7051T>G) c.64+919T>G n.329T>G c.6906T>G (p.Leu2302=) c.6882T>G (p.Leu2294=) c.6942T>G (p.Leu2314=) | ClinVar gnomAD v4 |
17 | g.31338799T= | CA2255603167 | NF1 | c.6897T= (p.Leu2299=) c.1479T= (p.Leu493=) n.2737T= c.1071T= (p.Leu357=) n.3560T= c.6945T= (p.Leu2315=) c.6915T= (p.Leu2305=) c.6852T= (p.Leu2284=) c.5850T= (p.Leu1950=) c.298T= c.7051T= (n.7051T=) c.64+919T= n.329T= c.6906T= (p.Leu2302=) c.6882T= (p.Leu2294=) c.6942T= (p.Leu2314=) | |
17 | g.31338799_31338800dup | CA658798771 | NF1 | c.6897_6898dup (p.Asn2300IlefsTer14) c.1479_1480dup (p.Asn494IlefsTer14) n.2737_2738dup c.1071_1072dup (p.Asn358IlefsTer14) n.3560_3561dup c.6945_6946dup (p.Asn2316IlefsTer14) c.6915_6916dup (p.Asn2306IlefsTer14) c.6852_6853dup (p.Asn2285IlefsTer14) c.5850_5851dup (p.Asn1951IlefsTer14) c.298_299dup c.7051_7052dup (n.7051_7052dup) c.64+919_64+920dup n.329_330dup c.6906_6907dup (p.Asn2303IlefsTer14) c.6882_6883dup (p.Asn2295IlefsTer14) c.6942_6943dup (p.Asn2315IlefsTer14) | ClinVar dbSNP |
17 | g.31338800A>C | CA399014444 | NF1 | c.6898A>C (p.Asn2300His) c.1480A>C (p.Asn494His) n.2738A>C c.1072A>C (p.Asn358His) n.3561A>C c.6946A>C (p.Asn2316His) c.6916A>C (p.Asn2306His) c.6853A>C (p.Asn2285His) c.5851A>C (p.Asn1951His) c.299A>C c.7052A>C (n.7052A>C) c.64+920A>C n.330A>C c.6907A>C (p.Asn2303His) c.6883A>C (p.Asn2295His) c.6943A>C (p.Asn2315His) | |
17 | g.31338800A>G | CA399014445 | NF1 | c.6898A>G (p.Asn2300Asp) c.1480A>G (p.Asn494Asp) n.2738A>G c.1072A>G (p.Asn358Asp) n.3561A>G c.6946A>G (p.Asn2316Asp) c.6916A>G (p.Asn2306Asp) c.6853A>G (p.Asn2285Asp) c.5851A>G (p.Asn1951Asp) c.299A>G c.7052A>G (n.7052A>G) c.64+920A>G n.330A>G c.6907A>G (p.Asn2303Asp) c.6883A>G (p.Asn2295Asp) c.6943A>G (p.Asn2315Asp) | |
17 | g.31338800A>T | CA399014446 | NF1 | c.6898A>T (p.Asn2300Tyr) c.1480A>T (p.Asn494Tyr) n.2738A>T c.1072A>T (p.Asn358Tyr) n.3561A>T c.6946A>T (p.Asn2316Tyr) c.6916A>T (p.Asn2306Tyr) c.6853A>T (p.Asn2285Tyr) c.5851A>T (p.Asn1951Tyr) c.299A>T c.7052A>T (n.7052A>T) c.64+920A>T n.330A>T c.6907A>T (p.Asn2303Tyr) c.6883A>T (p.Asn2295Tyr) c.6943A>T (p.Asn2315Tyr) | dbSNP |
17 | g.31338800_31338801del | CA2559048655 | NF1 | c.6898_6899del (p.Asn2300Ter) c.1480_1481del (p.Asn494Ter) n.2738_2739del c.1072_1073del (p.Asn358Ter) n.3561_3562del c.6946_6947del (p.Asn2316Ter) c.6916_6917del (p.Asn2306Ter) c.6853_6854del (p.Asn2285Ter) c.5851_5852del (p.Asn1951Ter) c.299_300del c.7052_7053del (n.7052_7053del) c.64+920_64+921del n.330_331del c.6907_6908del (p.Asn2303Ter) c.6883_6884del (p.Asn2295Ter) c.6943_6944del (p.Asn2315Ter) | |
17 | g.31338801A= | CA2255603168 | NF1 | c.6899A= (p.Asn2300=) c.1481A= (p.Asn494=) n.2739A= c.1073A= (p.Asn358=) n.3562A= c.6947A= (p.Asn2316=) c.6917A= (p.Asn2306=) c.6854A= (p.Asn2285=) c.5852A= (p.Asn1951=) c.300A= c.7053A= (n.7053A=) c.64+921A= n.331A= c.6908A= (p.Asn2303=) c.6884A= (p.Asn2295=) c.6944A= (p.Asn2315=) | |
17 | g.31338801A>C | CA399014447 | NF1 | c.6899A>C (p.Asn2300Thr) c.1481A>C (p.Asn494Thr) n.2739A>C c.1073A>C (p.Asn358Thr) n.3562A>C c.6947A>C (p.Asn2316Thr) c.6917A>C (p.Asn2306Thr) c.6854A>C (p.Asn2285Thr) c.5852A>C (p.Asn1951Thr) c.300A>C c.7053A>C (n.7053A>C) c.64+921A>C n.331A>C c.6908A>C (p.Asn2303Thr) c.6884A>C (p.Asn2295Thr) c.6944A>C (p.Asn2315Thr) | |
17 | g.31338801A>G | CA399014448 | NF1 | c.6899A>G (p.Asn2300Ser) c.1481A>G (p.Asn494Ser) n.2739A>G c.1073A>G (p.Asn358Ser) n.3562A>G c.6947A>G (p.Asn2316Ser) c.6917A>G (p.Asn2306Ser) c.6854A>G (p.Asn2285Ser) c.5852A>G (p.Asn1951Ser) c.300A>G c.7053A>G (n.7053A>G) c.64+921A>G n.331A>G c.6908A>G (p.Asn2303Ser) c.6884A>G (p.Asn2295Ser) c.6944A>G (p.Asn2315Ser) | ClinVar dbSNP |
17 | g.31338801A>T | CA399014449 | NF1 | c.6899A>T (p.Asn2300Ile) c.1481A>T (p.Asn494Ile) n.2739A>T c.1073A>T (p.Asn358Ile) n.3562A>T c.6947A>T (p.Asn2316Ile) c.6917A>T (p.Asn2306Ile) c.6854A>T (p.Asn2285Ile) c.5852A>T (p.Asn1951Ile) c.300A>T c.7053A>T (n.7053A>T) c.64+921A>T n.331A>T c.6908A>T (p.Asn2303Ile) c.6884A>T (p.Asn2295Ile) c.6944A>T (p.Asn2315Ile) | ClinVar gnomAD v4 |
17 | g.31338802T>A | CA399014450 | NF1 | c.6900T>A (p.Asn2300Lys) c.1482T>A (p.Asn494Lys) n.2740T>A c.1074T>A (p.Asn358Lys) n.3563T>A c.6948T>A (p.Asn2316Lys) c.6918T>A (p.Asn2306Lys) c.6855T>A (p.Asn2285Lys) c.5853T>A (p.Asn1951Lys) c.301T>A c.7054T>A (n.7054T>A) c.64+922T>A n.332T>A c.6909T>A (p.Asn2303Lys) c.6885T>A (p.Asn2295Lys) c.6945T>A (p.Asn2315Lys) | ClinVar dbSNP gnomAD v4 |
17 | g.31338802T>C | CA499234384 | NF1 | c.6900T>C (p.Asn2300=) c.1482T>C (p.Asn494=) n.2740T>C c.1074T>C (p.Asn358=) n.3563T>C c.6948T>C (p.Asn2316=) c.6918T>C (p.Asn2306=) c.6855T>C (p.Asn2285=) c.5853T>C (p.Asn1951=) c.301T>C c.7054T>C (n.7054T>C) c.64+922T>C n.332T>C c.6909T>C (p.Asn2303=) c.6885T>C (p.Asn2295=) c.6945T>C (p.Asn2315=) | |
17 | g.31338802T>G | CA399014451 | NF1 | c.6900T>G (p.Asn2300Lys) c.1482T>G (p.Asn494Lys) n.2740T>G c.1074T>G (p.Asn358Lys) n.3563T>G c.6948T>G (p.Asn2316Lys) c.6918T>G (p.Asn2306Lys) c.6855T>G (p.Asn2285Lys) c.5853T>G (p.Asn1951Lys) c.301T>G c.7054T>G (n.7054T>G) c.64+922T>G n.332T>G c.6909T>G (p.Asn2303Lys) c.6885T>G (p.Asn2295Lys) c.6945T>G (p.Asn2315Lys) | |
17 | g.31338802T= | CA2255603169 | NF1 | c.6900T= (p.Asn2300=) c.1482T= (p.Asn494=) n.2740T= c.1074T= (p.Asn358=) n.3563T= c.6948T= (p.Asn2316=) c.6918T= (p.Asn2306=) c.6855T= (p.Asn2285=) c.5853T= (p.Asn1951=) c.301T= c.7054T= (n.7054T=) c.64+922T= n.332T= c.6909T= (p.Asn2303=) c.6885T= (p.Asn2295=) c.6945T= (p.Asn2315=) | |
17 | g.31338802_31338805delinsTAAG | CA2255603170 | NF1 | c.6900_6903delinsTAAG (p.Asn2300=) c.1482_1485delinsTAAG (p.Asn494=) n.2740_2743delinsTAAG c.1074_1077delinsTAAG (p.Asn358=) n.3563_3566delinsTAAG c.6948_6951delinsTAAG (p.Asn2316=) c.6918_6921delinsTAAG (p.Asn2306=) c.6855_6858delinsTAAG (p.Asn2285=) c.5853_5856delinsTAAG (p.Asn1951=) c.301_304delinsTAAG c.7054_7057delinsTAAG (n.7054_7057delinsTAAG) c.64+922_64+925delinsTAAG n.332_335delinsTAAG c.6909_6912delinsTAAG (p.Asn2303=) c.6885_6888delinsTAAG (p.Asn2295=) c.6945_6948delinsTAAG (p.Asn2315=) | |
17 | g.31338803A>C | CA399014452 | NF1 | c.6901A>C (p.Lys2301Gln) c.1483A>C (p.Lys495Gln) n.2741A>C c.1075A>C (p.Lys359Gln) n.3564A>C c.6949A>C (p.Lys2317Gln) c.6919A>C (p.Lys2307Gln) c.6856A>C (p.Lys2286Gln) c.5854A>C (p.Lys1952Gln) c.302A>C c.7055A>C (n.7055A>C) c.64+923A>C n.333A>C c.6910A>C (p.Lys2304Gln) c.6886A>C (p.Lys2296Gln) c.6946A>C (p.Lys2316Gln) | |
17 | g.31338803A>G | CA399014453 | NF1 | c.6901A>G (p.Lys2301Glu) c.1483A>G (p.Lys495Glu) n.2741A>G c.1075A>G (p.Lys359Glu) n.3564A>G c.6949A>G (p.Lys2317Glu) c.6919A>G (p.Lys2307Glu) c.6856A>G (p.Lys2286Glu) c.5854A>G (p.Lys1952Glu) c.302A>G c.7055A>G (n.7055A>G) c.64+923A>G n.333A>G c.6910A>G (p.Lys2304Glu) c.6886A>G (p.Lys2296Glu) c.6946A>G (p.Lys2316Glu) | |
17 | g.31338803A>T | CA399014454 | NF1 | c.6901A>T (p.Lys2301Ter) c.1483A>T (p.Lys495Ter) n.2741A>T c.1075A>T (p.Lys359Ter) n.3564A>T c.6949A>T (p.Lys2317Ter) c.6919A>T (p.Lys2307Ter) c.6856A>T (p.Lys2286Ter) c.5854A>T (p.Lys1952Ter) c.302A>T c.7055A>T (n.7055A>T) c.64+923A>T n.333A>T c.6910A>T (p.Lys2304Ter) c.6886A>T (p.Lys2296Ter) c.6946A>T (p.Lys2316Ter) | |
17 | g.31338803_31338805del | CA169766 | NF1 | c.6901_6903del (p.Lys2301del) c.1483_1485del (p.Lys495del) n.2741_2743del c.1075_1077del (p.Lys359del) n.3564_3566del c.6949_6951del (p.Lys2317del) c.6919_6921del (p.Lys2307del) c.6856_6858del (p.Lys2286del) c.5854_5856del (p.Lys1952del) c.302_304del c.7055_7057del (n.7055_7057del) c.64+923_64+925del n.333_335del c.6910_6912del (p.Lys2304del) c.6886_6888del (p.Lys2296del) c.6946_6948del (p.Lys2316del) | ClinVar dbSNP |
17 | g.31338804A= | CA2255603171 | NF1 | c.6902A= (p.Lys2301=) c.1484A= (p.Lys495=) n.2742A= c.1076A= (p.Lys359=) n.3565A= c.6950A= (p.Lys2317=) c.6920A= (p.Lys2307=) c.6857A= (p.Lys2286=) c.5855A= (p.Lys1952=) c.303A= c.7056A= (n.7056A=) c.64+924A= n.334A= c.6911A= (p.Lys2304=) c.6887A= (p.Lys2296=) c.6947A= (p.Lys2316=) | |
17 | g.31338804A>C | CA399014456 | NF1 | c.6902A>C (p.Lys2301Thr) c.1484A>C (p.Lys495Thr) n.2742A>C c.1076A>C (p.Lys359Thr) n.3565A>C c.6950A>C (p.Lys2317Thr) c.6920A>C (p.Lys2307Thr) c.6857A>C (p.Lys2286Thr) c.5855A>C (p.Lys1952Thr) c.303A>C c.7056A>C (n.7056A>C) c.64+924A>C n.334A>C c.6911A>C (p.Lys2304Thr) c.6887A>C (p.Lys2296Thr) c.6947A>C (p.Lys2316Thr) | |
17 | g.31338804A>G | CA8487448 | NF1 | c.6902A>G (p.Lys2301Arg) c.1484A>G (p.Lys495Arg) n.2742A>G c.1076A>G (p.Lys359Arg) n.3565A>G c.6950A>G (p.Lys2317Arg) c.6920A>G (p.Lys2307Arg) c.6857A>G (p.Lys2286Arg) c.5855A>G (p.Lys1952Arg) c.303A>G c.7056A>G (n.7056A>G) c.64+924A>G n.334A>G c.6911A>G (p.Lys2304Arg) c.6887A>G (p.Lys2296Arg) c.6947A>G (p.Lys2316Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.31338804A>T | CA399014455 | NF1 | c.6902A>T (p.Lys2301Met) c.1484A>T (p.Lys495Met) n.2742A>T c.1076A>T (p.Lys359Met) n.3565A>T c.6950A>T (p.Lys2317Met) c.6920A>T (p.Lys2307Met) c.6857A>T (p.Lys2286Met) c.5855A>T (p.Lys1952Met) c.303A>T c.7056A>T (n.7056A>T) c.64+924A>T n.334A>T c.6911A>T (p.Lys2304Met) c.6887A>T (p.Lys2296Met) c.6947A>T (p.Lys2316Met) | dbSNP |
17 | g.31338805G>A | CA499234385 | NF1 | c.6903G>A (p.Lys2301=) c.1485G>A (p.Lys495=) n.2743G>A c.1077G>A (p.Lys359=) n.3566G>A c.6951G>A (p.Lys2317=) c.6921G>A (p.Lys2307=) c.6858G>A (p.Lys2286=) c.5856G>A (p.Lys1952=) c.304G>A c.7057G>A (n.7057G>A) c.64+925G>A n.335G>A c.6912G>A (p.Lys2304=) c.6888G>A (p.Lys2296=) c.6948G>A (p.Lys2316=) | ClinVar dbSNP COSMIC COSMIC COSMIC |
17 | g.31338805G>C | CA399014457 | NF1 | c.6903G>C (p.Lys2301Asn) c.1485G>C (p.Lys495Asn) n.2743G>C c.1077G>C (p.Lys359Asn) n.3566G>C c.6951G>C (p.Lys2317Asn) c.6921G>C (p.Lys2307Asn) c.6858G>C (p.Lys2286Asn) c.5856G>C (p.Lys1952Asn) c.304G>C c.7057G>C (n.7057G>C) c.64+925G>C n.335G>C c.6912G>C (p.Lys2304Asn) c.6888G>C (p.Lys2296Asn) c.6948G>C (p.Lys2316Asn) | ClinVar dbSNP gnomAD v4 |
17 | g.31338805G= | CA2255603172 | NF1 | c.6903G= (p.Lys2301=) c.1485G= (p.Lys495=) n.2743G= c.1077G= (p.Lys359=) n.3566G= c.6951G= (p.Lys2317=) c.6921G= (p.Lys2307=) c.6858G= (p.Lys2286=) c.5856G= (p.Lys1952=) c.304G= c.7057G= (n.7057G=) c.64+925G= n.335G= c.6912G= (p.Lys2304=) c.6888G= (p.Lys2296=) c.6948G= (p.Lys2316=) | |
17 | g.31338805G>T | CA16607563 | NF1 | c.6903G>T (p.Lys2301Asn) c.1485G>T (p.Lys495Asn) n.2743G>T c.1077G>T (p.Lys359Asn) n.3566G>T c.6951G>T (p.Lys2317Asn) c.6921G>T (p.Lys2307Asn) c.6858G>T (p.Lys2286Asn) c.5856G>T (p.Lys1952Asn) c.304G>T c.7057G>T (n.7057G>T) c.64+925G>T n.335G>T c.6912G>T (p.Lys2304Asn) c.6888G>T (p.Lys2296Asn) c.6948G>T (p.Lys2316Asn) | ClinVar dbSNP |
17 | g.31338806G>A | CA16615312 | NF1 | c.6903+1G>A (n.6903+1G>A) c.1485+1G>A (n.1485+1G>A) n.2744G>A c.1077+1G>A (n.1077+1G>A) n.3566+1G>A c.6951+1G>A (n.6951+1G>A) c.6921+1G>A (n.6921+1G>A) c.6858+1G>A (n.6858+1G>A) c.5856+1G>A (n.5856+1G>A) c.304+1G>A c.7057+1G>A (n.7057+1G>A) c.64+926G>A n.335+1G>A c.6912+1G>A (n.6912+1G>A) c.6888+1G>A (n.6888+1G>A) c.6948+1G>A (n.6948+1G>A) | ClinVar dbSNP gnomAD v4 |
17 | g.31338806G>C | CA399014458 | NF1 | c.6903+1G>C (n.6903+1G>C) c.1485+1G>C (n.1485+1G>C) n.2744G>C c.1077+1G>C (n.1077+1G>C) n.3566+1G>C c.6951+1G>C (n.6951+1G>C) c.6921+1G>C (n.6921+1G>C) c.6858+1G>C (n.6858+1G>C) c.5856+1G>C (n.5856+1G>C) c.304+1G>C c.7057+1G>C (n.7057+1G>C) c.64+926G>C n.335+1G>C c.6912+1G>C (n.6912+1G>C) c.6888+1G>C (n.6888+1G>C) c.6948+1G>C (n.6948+1G>C) | ClinVar dbSNP |
17 | g.31338806G= | CA2255603173 | NF1 | c.6903+1G= (n.6903+1G=) c.1485+1G= (n.1485+1G=) n.2744G= c.1077+1G= (n.1077+1G=) n.3566+1G= c.6951+1G= (n.6951+1G=) c.6921+1G= (n.6921+1G=) c.6858+1G= (n.6858+1G=) c.5856+1G= (n.5856+1G=) c.304+1G= c.7057+1G= (n.7057+1G=) c.64+926G= n.335+1G= c.6912+1G= (n.6912+1G=) c.6888+1G= (n.6888+1G=) c.6948+1G= (n.6948+1G=) | |
17 | g.31338806G>T | CA399014459 | NF1 | c.6903+1G>T (n.6903+1G>T) c.1485+1G>T (n.1485+1G>T) n.2744G>T c.1077+1G>T (n.1077+1G>T) n.3566+1G>T c.6951+1G>T (n.6951+1G>T) c.6921+1G>T (n.6921+1G>T) c.6858+1G>T (n.6858+1G>T) c.5856+1G>T (n.5856+1G>T) c.304+1G>T c.7057+1G>T (n.7057+1G>T) c.64+926G>T n.335+1G>T c.6912+1G>T (n.6912+1G>T) c.6888+1G>T (n.6888+1G>T) c.6948+1G>T (n.6948+1G>T) | ClinVar dbSNP |
17 | g.31338807del | CA2831039599 | NF1 | c.6903+2del (n.6903+2del) c.1485+2del (n.1485+2del) n.2745del c.1077+2del (n.1077+2del) n.3566+2del c.6951+2del (n.6951+2del) c.6921+2del (n.6921+2del) c.6858+2del (n.6858+2del) c.5856+2del (n.5856+2del) c.304+2del c.7057+2del (n.7057+2del) c.64+927del n.335+2del c.6912+2del (n.6912+2del) c.6888+2del (n.6888+2del) c.6948+2del (n.6948+2del) | |
17 | g.31338807T>A | CA399014460 | NF1 | c.6903+2T>A (n.6903+2T>A) c.1485+2T>A (n.1485+2T>A) n.2745T>A c.1077+2T>A (n.1077+2T>A) n.3566+2T>A c.6951+2T>A (n.6951+2T>A) c.6921+2T>A (n.6921+2T>A) c.6858+2T>A (n.6858+2T>A) c.5856+2T>A (n.5856+2T>A) c.304+2T>A c.7057+2T>A (n.7057+2T>A) c.64+927T>A n.335+2T>A c.6912+2T>A (n.6912+2T>A) c.6888+2T>A (n.6888+2T>A) c.6948+2T>A (n.6948+2T>A) | ClinVar dbSNP COSMIC COSMIC COSMIC |
17 | g.31338807T>C | CA399014461 | NF1 | c.6903+2T>C (n.6903+2T>C) c.1485+2T>C (n.1485+2T>C) n.2745T>C c.1077+2T>C (n.1077+2T>C) n.3566+2T>C c.6951+2T>C (n.6951+2T>C) c.6921+2T>C (n.6921+2T>C) c.6858+2T>C (n.6858+2T>C) c.5856+2T>C (n.5856+2T>C) c.304+2T>C c.7057+2T>C (n.7057+2T>C) c.64+927T>C n.335+2T>C c.6912+2T>C (n.6912+2T>C) c.6888+2T>C (n.6888+2T>C) c.6948+2T>C (n.6948+2T>C) | ClinVar dbSNP |
17 | g.31338807T>G | CA399014462 | NF1 | c.6903+2T>G (n.6903+2T>G) c.1485+2T>G (n.1485+2T>G) n.2745T>G c.1077+2T>G (n.1077+2T>G) n.3566+2T>G c.6951+2T>G (n.6951+2T>G) c.6921+2T>G (n.6921+2T>G) c.6858+2T>G (n.6858+2T>G) c.5856+2T>G (n.5856+2T>G) c.304+2T>G c.7057+2T>G (n.7057+2T>G) c.64+927T>G n.335+2T>G c.6912+2T>G (n.6912+2T>G) c.6888+2T>G (n.6888+2T>G) c.6948+2T>G (n.6948+2T>G) | |
17 | g.31338807T= | CA2255603174 | NF1 | c.6903+2T= (n.6903+2T=) c.1485+2T= (n.1485+2T=) n.2745T= c.1077+2T= (n.1077+2T=) n.3566+2T= c.6951+2T= (n.6951+2T=) c.6921+2T= (n.6921+2T=) c.6858+2T= (n.6858+2T=) c.5856+2T= (n.5856+2T=) c.304+2T= c.7057+2T= (n.7057+2T=) c.64+927T= n.335+2T= c.6912+2T= (n.6912+2T=) c.6888+2T= (n.6888+2T=) c.6948+2T= (n.6948+2T=) | |
17 | g.31338807_31338808dup | CA2697559636 | NF1 | c.6903+2_6903+3dup (n.6903+2_6903+3dup) c.1485+2_1485+3dup (n.1485+2_1485+3dup) n.2745_2746dup c.1077+2_1077+3dup (n.1077+2_1077+3dup) n.3566+2_3566+3dup c.6951+2_6951+3dup (n.6951+2_6951+3dup) c.6921+2_6921+3dup (n.6921+2_6921+3dup) c.6858+2_6858+3dup (n.6858+2_6858+3dup) c.5856+2_5856+3dup (n.5856+2_5856+3dup) c.304+2_304+3dup c.7057+2_7057+3dup (n.7057+2_7057+3dup) c.64+927_64+928dup n.335+2_335+3dup c.6912+2_6912+3dup (n.6912+2_6912+3dup) c.6888+2_6888+3dup (n.6888+2_6888+3dup) c.6948+2_6948+3dup (n.6948+2_6948+3dup) | ClinVar |
17 | g.31338808_31338869dup | CA2573153881 | NF1 | c.6903+3_6903+64dup (n.6903+3_6903+64dup) c.1485+3_1485+64dup (n.1485+3_1485+64dup) n.2746_2807dup c.1077+3_1077+64dup (n.1077+3_1077+64dup) n.3566+3_3566+64dup c.6951+3_6951+64dup (n.6951+3_6951+64dup) c.6921+3_6921+64dup (n.6921+3_6921+64dup) c.6858+3_6858+64dup (n.6858+3_6858+64dup) c.5856+3_5856+64dup (n.5856+3_5856+64dup) c.304+3_304+64dup c.7057+3_7057+64dup (n.7057+3_7057+64dup) c.64+928_64+989dup n.335+3_335+64dup c.6912+3_6912+64dup (n.6912+3_6912+64dup) c.6888+3_6888+64dup (n.6888+3_6888+64dup) c.6948+3_6948+64dup (n.6948+3_6948+64dup) | ClinVar dbSNP |
17 | g.31338808A= | CA2255603175 | NF1 | c.6903+3A= (n.6903+3A=) c.1485+3A= (n.1485+3A=) n.2746A= c.1077+3A= (n.1077+3A=) n.3566+3A= c.6951+3A= (n.6951+3A=) c.6921+3A= (n.6921+3A=) c.6858+3A= (n.6858+3A=) c.5856+3A= (n.5856+3A=) c.304+3A= c.7057+3A= (n.7057+3A=) c.64+928A= n.335+3A= c.6912+3A= (n.6912+3A=) c.6888+3A= (n.6888+3A=) c.6948+3A= (n.6948+3A=) | |
17 | g.31338808A>C | CA2573153882 | NF1 | c.6903+3A>C (n.6903+3A>C) c.1485+3A>C (n.1485+3A>C) n.2746A>C c.1077+3A>C (n.1077+3A>C) n.3566+3A>C c.6951+3A>C (n.6951+3A>C) c.6921+3A>C (n.6921+3A>C) c.6858+3A>C (n.6858+3A>C) c.5856+3A>C (n.5856+3A>C) c.304+3A>C c.7057+3A>C (n.7057+3A>C) c.64+928A>C n.335+3A>C c.6912+3A>C (n.6912+3A>C) c.6888+3A>C (n.6888+3A>C) c.6948+3A>C (n.6948+3A>C) | ClinVar dbSNP |
17 | g.31338808A>G | CA645293901 | NF1 | c.6903+3A>G (n.6903+3A>G) c.1485+3A>G (n.1485+3A>G) n.2746A>G c.1077+3A>G (n.1077+3A>G) n.3566+3A>G c.6951+3A>G (n.6951+3A>G) c.6921+3A>G (n.6921+3A>G) c.6858+3A>G (n.6858+3A>G) c.5856+3A>G (n.5856+3A>G) c.304+3A>G c.7057+3A>G (n.7057+3A>G) c.64+928A>G n.335+3A>G c.6912+3A>G (n.6912+3A>G) c.6888+3A>G (n.6888+3A>G) c.6948+3A>G (n.6948+3A>G) | ClinVar dbSNP gnomAD v4 |
17 | g.31338808A>T | CA2695225192 | NF1 | c.6903+3A>T (n.6903+3A>T) c.1485+3A>T (n.1485+3A>T) n.2746A>T c.1077+3A>T (n.1077+3A>T) n.3566+3A>T c.6951+3A>T (n.6951+3A>T) c.6921+3A>T (n.6921+3A>T) c.6858+3A>T (n.6858+3A>T) c.5856+3A>T (n.5856+3A>T) c.304+3A>T c.7057+3A>T (n.7057+3A>T) c.64+928A>T n.335+3A>T c.6912+3A>T (n.6912+3A>T) c.6888+3A>T (n.6888+3A>T) c.6948+3A>T (n.6948+3A>T) | ClinVar |
17 | g.31338808_31338827dup | CA2637078984 | NF1 | c.6903+3_6903+22dup (n.6903+3_6903+22dup) c.1485+3_1485+22dup (n.1485+3_1485+22dup) n.2746_2765dup c.1077+3_1077+22dup (n.1077+3_1077+22dup) n.3566+3_3566+22dup c.6951+3_6951+22dup (n.6951+3_6951+22dup) c.6921+3_6921+22dup (n.6921+3_6921+22dup) c.6858+3_6858+22dup (n.6858+3_6858+22dup) c.5856+3_5856+22dup (n.5856+3_5856+22dup) c.304+3_304+22dup c.7057+3_7057+22dup (n.7057+3_7057+22dup) c.64+928_64+947dup n.335+3_335+22dup c.6912+3_6912+22dup (n.6912+3_6912+22dup) c.6888+3_6888+22dup (n.6888+3_6888+22dup) c.6948+3_6948+22dup (n.6948+3_6948+22dup) | gnomAD v4 |
17 | g.31338809A= | CA2255603176 | NF1 | c.6903+4A= (n.6903+4A=) c.1485+4A= (n.1485+4A=) n.2747A= c.1077+4A= (n.1077+4A=) n.3566+4A= c.6951+4A= (n.6951+4A=) c.6921+4A= (n.6921+4A=) c.6858+4A= (n.6858+4A=) c.5856+4A= (n.5856+4A=) c.304+4A= c.7057+4A= (n.7057+4A=) c.64+929A= n.335+4A= c.6912+4A= (n.6912+4A=) c.6888+4A= (n.6888+4A=) c.6948+4A= (n.6948+4A=) | |
17 | g.31338809A>G | CA8487449 | NF1 | c.6903+4A>G (n.6903+4A>G) c.1485+4A>G (n.1485+4A>G) n.2747A>G c.1077+4A>G (n.1077+4A>G) n.3566+4A>G c.6951+4A>G (n.6951+4A>G) c.6921+4A>G (n.6921+4A>G) c.6858+4A>G (n.6858+4A>G) c.5856+4A>G (n.5856+4A>G) c.304+4A>G c.7057+4A>G (n.7057+4A>G) c.64+929A>G n.335+4A>G c.6912+4A>G (n.6912+4A>G) c.6888+4A>G (n.6888+4A>G) c.6948+4A>G (n.6948+4A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.31338810T>A | CA2733206705 | NF1 | c.6903+5T>A (n.6903+5T>A) c.1485+5T>A (n.1485+5T>A) n.2748T>A c.1077+5T>A (n.1077+5T>A) n.3566+5T>A c.6951+5T>A (n.6951+5T>A) c.6921+5T>A (n.6921+5T>A) c.6858+5T>A (n.6858+5T>A) c.5856+5T>A (n.5856+5T>A) c.304+5T>A c.7057+5T>A (n.7057+5T>A) c.64+930T>A n.335+5T>A c.6912+5T>A (n.6912+5T>A) c.6888+5T>A (n.6888+5T>A) c.6948+5T>A (n.6948+5T>A) | dbSNP |
17 | g.31338810T>C | CA8487450 | NF1 | c.6903+5T>C (n.6903+5T>C) c.1485+5T>C (n.1485+5T>C) n.2748T>C c.1077+5T>C (n.1077+5T>C) n.3566+5T>C c.6951+5T>C (n.6951+5T>C) c.6921+5T>C (n.6921+5T>C) c.6858+5T>C (n.6858+5T>C) c.5856+5T>C (n.5856+5T>C) c.304+5T>C c.7057+5T>C (n.7057+5T>C) c.64+930T>C n.335+5T>C c.6912+5T>C (n.6912+5T>C) c.6888+5T>C (n.6888+5T>C) c.6948+5T>C (n.6948+5T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.31338810T= | CA2255603177 | NF1 | c.6903+5T= (n.6903+5T=) c.1485+5T= (n.1485+5T=) n.2748T= c.1077+5T= (n.1077+5T=) n.3566+5T= c.6951+5T= (n.6951+5T=) c.6921+5T= (n.6921+5T=) c.6858+5T= (n.6858+5T=) c.5856+5T= (n.5856+5T=) c.304+5T= c.7057+5T= (n.7057+5T=) c.64+930T= n.335+5T= c.6912+5T= (n.6912+5T=) c.6888+5T= (n.6888+5T=) c.6948+5T= (n.6948+5T=) | |
17 | g.31338811T>C | CA289388515 | NF1 | c.6903+6T>C (n.6903+6T>C) c.1485+6T>C (n.1485+6T>C) n.2749T>C c.1077+6T>C (n.1077+6T>C) n.3566+6T>C c.6951+6T>C (n.6951+6T>C) c.6921+6T>C (n.6921+6T>C) c.6858+6T>C (n.6858+6T>C) c.5856+6T>C (n.5856+6T>C) c.304+6T>C c.7057+6T>C (n.7057+6T>C) c.64+931T>C n.335+6T>C c.6912+6T>C (n.6912+6T>C) c.6888+6T>C (n.6888+6T>C) c.6948+6T>C (n.6948+6T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.31338811T>G | CA2573153883 | NF1 | c.6903+6T>G (n.6903+6T>G) c.1485+6T>G (n.1485+6T>G) n.2749T>G c.1077+6T>G (n.1077+6T>G) n.3566+6T>G c.6951+6T>G (n.6951+6T>G) c.6921+6T>G (n.6921+6T>G) c.6858+6T>G (n.6858+6T>G) c.5856+6T>G (n.5856+6T>G) c.304+6T>G c.7057+6T>G (n.7057+6T>G) c.64+931T>G n.335+6T>G c.6912+6T>G (n.6912+6T>G) c.6888+6T>G (n.6888+6T>G) c.6948+6T>G (n.6948+6T>G) | ClinVar dbSNP gnomAD v4 |
17 | g.31338811T= | CA2255603178 | NF1 | c.6903+6T= (n.6903+6T=) c.1485+6T= (n.1485+6T=) n.2749T= c.1077+6T= (n.1077+6T=) n.3566+6T= c.6951+6T= (n.6951+6T=) c.6921+6T= (n.6921+6T=) c.6858+6T= (n.6858+6T=) c.5856+6T= (n.5856+6T=) c.304+6T= c.7057+6T= (n.7057+6T=) c.64+931T= n.335+6T= c.6912+6T= (n.6912+6T=) c.6888+6T= (n.6888+6T=) c.6948+6T= (n.6948+6T=) | |
17 | g.31338812A>C | CA2580093175 | NF1 | c.6903+7A>C (n.6903+7A>C) c.1485+7A>C (n.1485+7A>C) n.2750A>C c.1077+7A>C (n.1077+7A>C) n.3566+7A>C c.6951+7A>C (n.6951+7A>C) c.6921+7A>C (n.6921+7A>C) c.6858+7A>C (n.6858+7A>C) c.5856+7A>C (n.5856+7A>C) c.304+7A>C c.7057+7A>C (n.7057+7A>C) c.64+932A>C n.335+7A>C c.6912+7A>C (n.6912+7A>C) c.6888+7A>C (n.6888+7A>C) c.6948+7A>C (n.6948+7A>C) | ClinVar |
17 | g.31338812A>G | CA2637079005 | NF1 | c.6903+7A>G (n.6903+7A>G) c.1485+7A>G (n.1485+7A>G) n.2750A>G c.1077+7A>G (n.1077+7A>G) n.3566+7A>G c.6951+7A>G (n.6951+7A>G) c.6921+7A>G (n.6921+7A>G) c.6858+7A>G (n.6858+7A>G) c.5856+7A>G (n.5856+7A>G) c.304+7A>G c.7057+7A>G (n.7057+7A>G) c.64+932A>G n.335+7A>G c.6912+7A>G (n.6912+7A>G) c.6888+7A>G (n.6888+7A>G) c.6948+7A>G (n.6948+7A>G) | gnomAD v4 |
17 | g.31338813C>A | CA2637079007 | NF1 | c.6903+8C>A (n.6903+8C>A) c.1485+8C>A (n.1485+8C>A) n.2751C>A c.1077+8C>A (n.1077+8C>A) n.3566+8C>A c.6951+8C>A (n.6951+8C>A) c.6921+8C>A (n.6921+8C>A) c.6858+8C>A (n.6858+8C>A) c.5856+8C>A (n.5856+8C>A) c.304+8C>A c.7057+8C>A (n.7057+8C>A) c.64+933C>A n.335+8C>A c.6912+8C>A (n.6912+8C>A) c.6888+8C>A (n.6888+8C>A) c.6948+8C>A (n.6948+8C>A) | gnomAD v4 |
17 | g.31338813C>G | CA2733616695 | NF1 | c.6903+8C>G (n.6903+8C>G) c.1485+8C>G (n.1485+8C>G) n.2751C>G c.1077+8C>G (n.1077+8C>G) n.3566+8C>G c.6951+8C>G (n.6951+8C>G) c.6921+8C>G (n.6921+8C>G) c.6858+8C>G (n.6858+8C>G) c.5856+8C>G (n.5856+8C>G) c.304+8C>G c.7057+8C>G (n.7057+8C>G) c.64+933C>G n.335+8C>G c.6912+8C>G (n.6912+8C>G) c.6888+8C>G (n.6888+8C>G) c.6948+8C>G (n.6948+8C>G) | dbSNP |
17 | g.31338813C>T | CA2733616698 | NF1 | c.6903+8C>T (n.6903+8C>T) c.1485+8C>T (n.1485+8C>T) n.2751C>T c.1077+8C>T (n.1077+8C>T) n.3566+8C>T c.6951+8C>T (n.6951+8C>T) c.6921+8C>T (n.6921+8C>T) c.6858+8C>T (n.6858+8C>T) c.5856+8C>T (n.5856+8C>T) c.304+8C>T c.7057+8C>T (n.7057+8C>T) c.64+933C>T n.335+8C>T c.6912+8C>T (n.6912+8C>T) c.6888+8C>T (n.6888+8C>T) c.6948+8C>T (n.6948+8C>T) | dbSNP |
17 | g.31338814del | CA2697559637 | NF1 | c.6903+9del (n.6903+9del) c.1485+9del (n.1485+9del) n.2752del c.1077+9del (n.1077+9del) n.3566+9del c.6951+9del (n.6951+9del) c.6921+9del (n.6921+9del) c.6858+9del (n.6858+9del) c.5856+9del (n.5856+9del) c.304+9del c.7057+9del (n.7057+9del) c.64+934del n.335+9del c.6912+9del (n.6912+9del) c.6888+9del (n.6888+9del) c.6948+9del (n.6948+9del) | ClinVar |
17 | g.31338814T>A | CA2255603179 | NF1 | c.6903+9T>A (n.6903+9T>A) c.1485+9T>A (n.1485+9T>A) n.2752T>A c.1077+9T>A (n.1077+9T>A) n.3566+9T>A c.6951+9T>A (n.6951+9T>A) c.6921+9T>A (n.6921+9T>A) c.6858+9T>A (n.6858+9T>A) c.5856+9T>A (n.5856+9T>A) c.304+9T>A c.7057+9T>A (n.7057+9T>A) c.64+934T>A n.335+9T>A c.6912+9T>A (n.6912+9T>A) c.6888+9T>A (n.6888+9T>A) c.6948+9T>A (n.6948+9T>A) | dbSNP |
17 | g.31338814T>C | CA658658594 | NF1 | c.6903+9T>C (n.6903+9T>C) c.1485+9T>C (n.1485+9T>C) n.2752T>C c.1077+9T>C (n.1077+9T>C) n.3566+9T>C c.6951+9T>C (n.6951+9T>C) c.6921+9T>C (n.6921+9T>C) c.6858+9T>C (n.6858+9T>C) c.5856+9T>C (n.5856+9T>C) c.304+9T>C c.7057+9T>C (n.7057+9T>C) c.64+934T>C n.335+9T>C c.6912+9T>C (n.6912+9T>C) c.6888+9T>C (n.6888+9T>C) c.6948+9T>C (n.6948+9T>C) | ClinVar dbSNP gnomAD v4 |
17 | g.31338814T= | CA2255603180 | NF1 | c.6903+9T= (n.6903+9T=) c.1485+9T= (n.1485+9T=) n.2752T= c.1077+9T= (n.1077+9T=) n.3566+9T= c.6951+9T= (n.6951+9T=) c.6921+9T= (n.6921+9T=) c.6858+9T= (n.6858+9T=) c.5856+9T= (n.5856+9T=) c.304+9T= c.7057+9T= (n.7057+9T=) c.64+934T= n.335+9T= c.6912+9T= (n.6912+9T=) c.6888+9T= (n.6888+9T=) c.6948+9T= (n.6948+9T=) | |
17 | g.31338815_31338816del | CA2499224203 | NF1 | c.6903+10_6903+11del (n.6903+10_6903+11del) c.1485+10_1485+11del (n.1485+10_1485+11del) n.2753_2754del c.1077+10_1077+11del (n.1077+10_1077+11del) n.3566+10_3566+11del c.6951+10_6951+11del (n.6951+10_6951+11del) c.6921+10_6921+11del (n.6921+10_6921+11del) c.6858+10_6858+11del (n.6858+10_6858+11del) c.5856+10_5856+11del (n.5856+10_5856+11del) c.304+10_304+11del c.7057+10_7057+11del (n.7057+10_7057+11del) c.64+935_64+936del n.335+10_335+11del c.6912+10_6912+11del (n.6912+10_6912+11del) c.6888+10_6888+11del (n.6888+10_6888+11del) c.6948+10_6948+11del (n.6948+10_6948+11del) | ClinVar dbSNP |
17 | g.31338815G>A | CA338206 | NF1 | c.6903+10G>A (n.6903+10G>A) c.1485+10G>A (n.1485+10G>A) n.2753G>A c.1077+10G>A (n.1077+10G>A) n.3566+10G>A c.6951+10G>A (n.6951+10G>A) c.6921+10G>A (n.6921+10G>A) c.6858+10G>A (n.6858+10G>A) c.5856+10G>A (n.5856+10G>A) c.304+10G>A c.7057+10G>A (n.7057+10G>A) c.64+935G>A n.335+10G>A c.6912+10G>A (n.6912+10G>A) c.6888+10G>A (n.6888+10G>A) c.6948+10G>A (n.6948+10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.31338815G>C | CA2733211581 | NF1 | c.6903+10G>C (n.6903+10G>C) c.1485+10G>C (n.1485+10G>C) n.2753G>C c.1077+10G>C (n.1077+10G>C) n.3566+10G>C c.6951+10G>C (n.6951+10G>C) c.6921+10G>C (n.6921+10G>C) c.6858+10G>C (n.6858+10G>C) c.5856+10G>C (n.5856+10G>C) c.304+10G>C c.7057+10G>C (n.7057+10G>C) c.64+935G>C n.335+10G>C c.6912+10G>C (n.6912+10G>C) c.6888+10G>C (n.6888+10G>C) c.6948+10G>C (n.6948+10G>C) | dbSNP |
17 | g.31338815G= | CA2255603181 | NF1 | c.6903+10G= (n.6903+10G=) c.1485+10G= (n.1485+10G=) n.2753G= c.1077+10G= (n.1077+10G=) n.3566+10G= c.6951+10G= (n.6951+10G=) c.6921+10G= (n.6921+10G=) c.6858+10G= (n.6858+10G=) c.5856+10G= (n.5856+10G=) c.304+10G= c.7057+10G= (n.7057+10G=) c.64+935G= n.335+10G= c.6912+10G= (n.6912+10G=) c.6888+10G= (n.6888+10G=) c.6948+10G= (n.6948+10G=) | |
17 | g.31338815G>T | CA8487451 | NF1 | c.6903+10G>T (n.6903+10G>T) c.1485+10G>T (n.1485+10G>T) n.2753G>T c.1077+10G>T (n.1077+10G>T) n.3566+10G>T c.6951+10G>T (n.6951+10G>T) c.6921+10G>T (n.6921+10G>T) c.6858+10G>T (n.6858+10G>T) c.5856+10G>T (n.5856+10G>T) c.304+10G>T c.7057+10G>T (n.7057+10G>T) c.64+935G>T n.335+10G>T c.6912+10G>T (n.6912+10G>T) c.6888+10G>T (n.6888+10G>T) c.6948+10G>T (n.6948+10G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.31338816T>A | CA2580093176 | NF1 | c.6903+11T>A (n.6903+11T>A) c.1485+11T>A (n.1485+11T>A) n.2754T>A c.1077+11T>A (n.1077+11T>A) n.3566+11T>A c.6951+11T>A (n.6951+11T>A) c.6921+11T>A (n.6921+11T>A) c.6858+11T>A (n.6858+11T>A) c.5856+11T>A (n.5856+11T>A) c.304+11T>A c.7057+11T>A (n.7057+11T>A) c.64+936T>A n.335+11T>A c.6912+11T>A (n.6912+11T>A) c.6888+11T>A (n.6888+11T>A) c.6948+11T>A (n.6948+11T>A) | ClinVar dbSNP |
17 | g.31338816T>C | CA2573153884 | NF1 | c.6903+11T>C (n.6903+11T>C) c.1485+11T>C (n.1485+11T>C) n.2754T>C c.1077+11T>C (n.1077+11T>C) n.3566+11T>C c.6951+11T>C (n.6951+11T>C) c.6921+11T>C (n.6921+11T>C) c.6858+11T>C (n.6858+11T>C) c.5856+11T>C (n.5856+11T>C) c.304+11T>C c.7057+11T>C (n.7057+11T>C) c.64+936T>C n.335+11T>C c.6912+11T>C (n.6912+11T>C) c.6888+11T>C (n.6888+11T>C) c.6948+11T>C (n.6948+11T>C) | ClinVar dbSNP gnomAD v4 |
17 | g.31338817A= | CA2255603182 | NF1 | c.6903+12A= (n.6903+12A=) c.1485+12A= (n.1485+12A=) n.2755A= c.1077+12A= (n.1077+12A=) n.3566+12A= c.6951+12A= (n.6951+12A=) c.6921+12A= (n.6921+12A=) c.6858+12A= (n.6858+12A=) c.5856+12A= (n.5856+12A=) c.304+12A= c.7057+12A= (n.7057+12A=) c.64+937A= n.335+12A= c.6912+12A= (n.6912+12A=) c.6888+12A= (n.6888+12A=) c.6948+12A= (n.6948+12A=) | |
17 | g.31338817A>G | CA625472000 | NF1 | c.6903+12A>G (n.6903+12A>G) c.1485+12A>G (n.1485+12A>G) n.2755A>G c.1077+12A>G (n.1077+12A>G) n.3566+12A>G c.6951+12A>G (n.6951+12A>G) c.6921+12A>G (n.6921+12A>G) c.6858+12A>G (n.6858+12A>G) c.5856+12A>G (n.5856+12A>G) c.304+12A>G c.7057+12A>G (n.7057+12A>G) c.64+937A>G n.335+12A>G c.6912+12A>G (n.6912+12A>G) c.6888+12A>G (n.6888+12A>G) c.6948+12A>G (n.6948+12A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.31338817A>T | CA625472001 | NF1 | c.6903+12A>T (n.6903+12A>T) c.1485+12A>T (n.1485+12A>T) n.2755A>T c.1077+12A>T (n.1077+12A>T) n.3566+12A>T c.6951+12A>T (n.6951+12A>T) c.6921+12A>T (n.6921+12A>T) c.6858+12A>T (n.6858+12A>T) c.5856+12A>T (n.5856+12A>T) c.304+12A>T c.7057+12A>T (n.7057+12A>T) c.64+937A>T n.335+12A>T c.6912+12A>T (n.6912+12A>T) c.6888+12A>T (n.6888+12A>T) c.6948+12A>T (n.6948+12A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.31338818T>C | CA2580093177 | NF1 | c.6903+13T>C (n.6903+13T>C) c.1485+13T>C (n.1485+13T>C) n.2756T>C c.1077+13T>C (n.1077+13T>C) n.3566+13T>C c.6951+13T>C (n.6951+13T>C) c.6921+13T>C (n.6921+13T>C) c.6858+13T>C (n.6858+13T>C) c.5856+13T>C (n.5856+13T>C) c.304+13T>C c.7057+13T>C (n.7057+13T>C) c.64+938T>C n.335+13T>C c.6912+13T>C (n.6912+13T>C) c.6888+13T>C (n.6888+13T>C) c.6948+13T>C (n.6948+13T>C) | ClinVar |
17 | g.31338819A>G | CA2580093178 | NF1 | c.6903+14A>G (n.6903+14A>G) c.1485+14A>G (n.1485+14A>G) n.2757A>G c.1077+14A>G (n.1077+14A>G) n.3566+14A>G c.6951+14A>G (n.6951+14A>G) c.6921+14A>G (n.6921+14A>G) c.6858+14A>G (n.6858+14A>G) c.5856+14A>G (n.5856+14A>G) c.304+14A>G c.7057+14A>G (n.7057+14A>G) c.64+939A>G n.335+14A>G c.6912+14A>G (n.6912+14A>G) c.6888+14A>G (n.6888+14A>G) c.6948+14A>G (n.6948+14A>G) | ClinVar |
17 | g.31338820G>A | CA289388554 | NF1 | c.6903+15G>A (n.6903+15G>A) c.1485+15G>A (n.1485+15G>A) n.2758G>A c.1077+15G>A (n.1077+15G>A) n.3566+15G>A c.6951+15G>A (n.6951+15G>A) c.6921+15G>A (n.6921+15G>A) c.6858+15G>A (n.6858+15G>A) c.5856+15G>A (n.5856+15G>A) c.304+15G>A c.7057+15G>A (n.7057+15G>A) c.64+940G>A n.335+15G>A c.6912+15G>A (n.6912+15G>A) c.6888+15G>A (n.6888+15G>A) c.6948+15G>A (n.6948+15G>A) | dbSNP gnomAD v4 |
17 | g.31338820G= | CA2255603183 | NF1 | c.6903+15G= (n.6903+15G=) c.1485+15G= (n.1485+15G=) n.2758G= c.1077+15G= (n.1077+15G=) n.3566+15G= c.6951+15G= (n.6951+15G=) c.6921+15G= (n.6921+15G=) c.6858+15G= (n.6858+15G=) c.5856+15G= (n.5856+15G=) c.304+15G= c.7057+15G= (n.7057+15G=) c.64+940G= n.335+15G= c.6912+15G= (n.6912+15G=) c.6888+15G= (n.6888+15G=) c.6948+15G= (n.6948+15G=) | |
17 | g.31338820G>T | CA2697559638 | NF1 | c.6903+15G>T (n.6903+15G>T) c.1485+15G>T (n.1485+15G>T) n.2758G>T c.1077+15G>T (n.1077+15G>T) n.3566+15G>T c.6951+15G>T (n.6951+15G>T) c.6921+15G>T (n.6921+15G>T) c.6858+15G>T (n.6858+15G>T) c.5856+15G>T (n.5856+15G>T) c.304+15G>T c.7057+15G>T (n.7057+15G>T) c.64+940G>T n.335+15G>T c.6912+15G>T (n.6912+15G>T) c.6888+15G>T (n.6888+15G>T) c.6948+15G>T (n.6948+15G>T) | ClinVar |
17 | g.31338822A>G | CA2576223765 | NF1 | c.6903+17A>G (n.6903+17A>G) c.1485+17A>G (n.1485+17A>G) n.2760A>G c.1077+17A>G (n.1077+17A>G) n.3566+17A>G c.6951+17A>G (n.6951+17A>G) c.6921+17A>G (n.6921+17A>G) c.6858+17A>G (n.6858+17A>G) c.5856+17A>G (n.5856+17A>G) c.304+17A>G c.7057+17A>G (n.7057+17A>G) c.64+942A>G n.335+17A>G c.6912+17A>G (n.6912+17A>G) c.6888+17A>G (n.6888+17A>G) c.6948+17A>G (n.6948+17A>G) | dbSNP |
17 | g.31338823A= | CA2255603184 | NF1 | c.6903+18A= (n.6903+18A=) c.1485+18A= (n.1485+18A=) n.2761A= c.1077+18A= (n.1077+18A=) n.3566+18A= c.6951+18A= (n.6951+18A=) c.6921+18A= (n.6921+18A=) c.6858+18A= (n.6858+18A=) c.5856+18A= (n.5856+18A=) c.304+18A= c.7057+18A= (n.7057+18A=) c.64+943A= n.335+18A= c.6912+18A= (n.6912+18A=) c.6888+18A= (n.6888+18A=) c.6948+18A= (n.6948+18A=) | |
17 | g.31338823A>C | CA625472002 | NF1 | c.6903+18A>C (n.6903+18A>C) c.1485+18A>C (n.1485+18A>C) n.2761A>C c.1077+18A>C (n.1077+18A>C) n.3566+18A>C c.6951+18A>C (n.6951+18A>C) c.6921+18A>C (n.6921+18A>C) c.6858+18A>C (n.6858+18A>C) c.5856+18A>C (n.5856+18A>C) c.304+18A>C c.7057+18A>C (n.7057+18A>C) c.64+943A>C n.335+18A>C c.6912+18A>C (n.6912+18A>C) c.6888+18A>C (n.6888+18A>C) c.6948+18A>C (n.6948+18A>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.31338823A>G | CA2580093179 | NF1 | c.6903+18A>G (n.6903+18A>G) c.1485+18A>G (n.1485+18A>G) n.2761A>G c.1077+18A>G (n.1077+18A>G) n.3566+18A>G c.6951+18A>G (n.6951+18A>G) c.6921+18A>G (n.6921+18A>G) c.6858+18A>G (n.6858+18A>G) c.5856+18A>G (n.5856+18A>G) c.304+18A>G c.7057+18A>G (n.7057+18A>G) c.64+943A>G n.335+18A>G c.6912+18A>G (n.6912+18A>G) c.6888+18A>G (n.6888+18A>G) c.6948+18A>G (n.6948+18A>G) | ClinVar |
17 | g.31338824A= | CA2255603185 | NF1 | c.6903+19A= (n.6903+19A=) c.1485+19A= (n.1485+19A=) n.2762A= c.1077+19A= (n.1077+19A=) n.3566+19A= c.6951+19A= (n.6951+19A=) c.6921+19A= (n.6921+19A=) c.6858+19A= (n.6858+19A=) c.5856+19A= (n.5856+19A=) c.304+19A= c.7057+19A= (n.7057+19A=) c.64+944A= n.335+19A= c.6912+19A= (n.6912+19A=) c.6888+19A= (n.6888+19A=) c.6948+19A= (n.6948+19A=) | |
17 | g.31338824A>G | CA625472003 | NF1 | c.6903+19A>G (n.6903+19A>G) c.1485+19A>G (n.1485+19A>G) n.2762A>G c.1077+19A>G (n.1077+19A>G) n.3566+19A>G c.6951+19A>G (n.6951+19A>G) c.6921+19A>G (n.6921+19A>G) c.6858+19A>G (n.6858+19A>G) c.5856+19A>G (n.5856+19A>G) c.304+19A>G c.7057+19A>G (n.7057+19A>G) c.64+944A>G n.335+19A>G c.6912+19A>G (n.6912+19A>G) c.6888+19A>G (n.6888+19A>G) c.6948+19A>G (n.6948+19A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.31338825dup | CA2697559640 | NF1 | c.6903+20dup (n.6903+20dup) c.1485+20dup (n.1485+20dup) n.2763dup c.1077+20dup (n.1077+20dup) n.3566+20dup c.6951+20dup (n.6951+20dup) c.6921+20dup (n.6921+20dup) c.6858+20dup (n.6858+20dup) c.5856+20dup (n.5856+20dup) c.304+20dup c.7057+20dup (n.7057+20dup) c.64+945dup n.335+20dup c.6912+20dup (n.6912+20dup) c.6888+20dup (n.6888+20dup) c.6948+20dup (n.6948+20dup) | ClinVar |
17 | g.31338826G>A | CA2733237278 | NF1 | c.6903+21G>A (n.6903+21G>A) c.1485+21G>A (n.1485+21G>A) n.2764G>A c.1077+21G>A (n.1077+21G>A) n.3566+21G>A c.6951+21G>A (n.6951+21G>A) c.6921+21G>A (n.6921+21G>A) c.6858+21G>A (n.6858+21G>A) c.5856+21G>A (n.5856+21G>A) c.304+21G>A c.7057+21G>A (n.7057+21G>A) c.64+946G>A n.335+21G>A c.6912+21G>A (n.6912+21G>A) c.6888+21G>A (n.6888+21G>A) c.6948+21G>A (n.6948+21G>A) | dbSNP |
17 | g.31338826G>C | CA2733237276 | NF1 | c.6903+21G>C (n.6903+21G>C) c.1485+21G>C (n.1485+21G>C) n.2764G>C c.1077+21G>C (n.1077+21G>C) n.3566+21G>C c.6951+21G>C (n.6951+21G>C) c.6921+21G>C (n.6921+21G>C) c.6858+21G>C (n.6858+21G>C) c.5856+21G>C (n.5856+21G>C) c.304+21G>C c.7057+21G>C (n.7057+21G>C) c.64+946G>C n.335+21G>C c.6912+21G>C (n.6912+21G>C) c.6888+21G>C (n.6888+21G>C) c.6948+21G>C (n.6948+21G>C) | dbSNP |
17 | g.31338826G= | CA2255603186 | NF1 | c.6903+21G= (n.6903+21G=) c.1485+21G= (n.1485+21G=) n.2764G= c.1077+21G= (n.1077+21G=) n.3566+21G= c.6951+21G= (n.6951+21G=) c.6921+21G= (n.6921+21G=) c.6858+21G= (n.6858+21G=) c.5856+21G= (n.5856+21G=) c.304+21G= c.7057+21G= (n.7057+21G=) c.64+946G= n.335+21G= c.6912+21G= (n.6912+21G=) c.6888+21G= (n.6888+21G=) c.6948+21G= (n.6948+21G=) | |
17 | g.31338826G>T | CA625472004 | NF1 | c.6903+21G>T (n.6903+21G>T) c.1485+21G>T (n.1485+21G>T) n.2764G>T c.1077+21G>T (n.1077+21G>T) n.3566+21G>T c.6951+21G>T (n.6951+21G>T) c.6921+21G>T (n.6921+21G>T) c.6858+21G>T (n.6858+21G>T) c.5856+21G>T (n.5856+21G>T) c.304+21G>T c.7057+21G>T (n.7057+21G>T) c.64+946G>T n.335+21G>T c.6912+21G>T (n.6912+21G>T) c.6888+21G>T (n.6888+21G>T) c.6948+21G>T (n.6948+21G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.31338827A= | CA2255603187 | NF1 | c.6903+22A= (n.6903+22A=) c.1485+22A= (n.1485+22A=) n.2765A= c.1077+22A= (n.1077+22A=) n.3566+22A= c.6951+22A= (n.6951+22A=) c.6921+22A= (n.6921+22A=) c.6858+22A= (n.6858+22A=) c.5856+22A= (n.5856+22A=) c.304+22A= c.7057+22A= (n.7057+22A=) c.64+947A= n.335+22A= c.6912+22A= (n.6912+22A=) c.6888+22A= (n.6888+22A=) c.6948+22A= (n.6948+22A=) | |
17 | g.31338827A>G | CA8487452 | NF1 | c.6903+22A>G (n.6903+22A>G) c.1485+22A>G (n.1485+22A>G) n.2765A>G c.1077+22A>G (n.1077+22A>G) n.3566+22A>G c.6951+22A>G (n.6951+22A>G) c.6921+22A>G (n.6921+22A>G) c.6858+22A>G (n.6858+22A>G) c.5856+22A>G (n.5856+22A>G) c.304+22A>G c.7057+22A>G (n.7057+22A>G) c.64+947A>G n.335+22A>G c.6912+22A>G (n.6912+22A>G) c.6888+22A>G (n.6888+22A>G) c.6948+22A>G (n.6948+22A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.31338828G>A | CA2576223767 | NF1 | c.6903+23G>A (n.6903+23G>A) c.1485+23G>A (n.1485+23G>A) n.2766G>A c.1077+23G>A (n.1077+23G>A) n.3566+23G>A c.6951+23G>A (n.6951+23G>A) c.6921+23G>A (n.6921+23G>A) c.6858+23G>A (n.6858+23G>A) c.5856+23G>A (n.5856+23G>A) c.304+23G>A c.7057+23G>A (n.7057+23G>A) c.64+948G>A n.335+23G>A c.6912+23G>A (n.6912+23G>A) c.6888+23G>A (n.6888+23G>A) c.6948+23G>A (n.6948+23G>A) | dbSNP gnomAD v4 |
17 | g.31338828G>C | CA2733616708 | NF1 | c.6903+23G>C (n.6903+23G>C) c.1485+23G>C (n.1485+23G>C) n.2766G>C c.1077+23G>C (n.1077+23G>C) n.3566+23G>C c.6951+23G>C (n.6951+23G>C) c.6921+23G>C (n.6921+23G>C) c.6858+23G>C (n.6858+23G>C) c.5856+23G>C (n.5856+23G>C) c.304+23G>C c.7057+23G>C (n.7057+23G>C) c.64+948G>C n.335+23G>C c.6912+23G>C (n.6912+23G>C) c.6888+23G>C (n.6888+23G>C) c.6948+23G>C (n.6948+23G>C) | dbSNP |
17 | g.31338828G>T | CA2576223768 | NF1 | c.6903+23G>T (n.6903+23G>T) c.1485+23G>T (n.1485+23G>T) n.2766G>T c.1077+23G>T (n.1077+23G>T) n.3566+23G>T c.6951+23G>T (n.6951+23G>T) c.6921+23G>T (n.6921+23G>T) c.6858+23G>T (n.6858+23G>T) c.5856+23G>T (n.5856+23G>T) c.304+23G>T c.7057+23G>T (n.7057+23G>T) c.64+948G>T n.335+23G>T c.6912+23G>T (n.6912+23G>T) c.6888+23G>T (n.6888+23G>T) c.6948+23G>T (n.6948+23G>T) | gnomAD v4 |
17 | g.31338829T>A | CA625472005 | NF1 | c.6903+24T>A (n.6903+24T>A) c.1485+24T>A (n.1485+24T>A) n.2767T>A c.1077+24T>A (n.1077+24T>A) n.3566+24T>A c.6951+24T>A (n.6951+24T>A) c.6921+24T>A (n.6921+24T>A) c.6858+24T>A (n.6858+24T>A) c.5856+24T>A (n.5856+24T>A) c.304+24T>A c.7057+24T>A (n.7057+24T>A) c.64+949T>A n.335+24T>A c.6912+24T>A (n.6912+24T>A) c.6888+24T>A (n.6888+24T>A) c.6948+24T>A (n.6948+24T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.31338829T>C | CA2733228676 | NF1 | c.6903+24T>C (n.6903+24T>C) c.1485+24T>C (n.1485+24T>C) n.2767T>C c.1077+24T>C (n.1077+24T>C) n.3566+24T>C c.6951+24T>C (n.6951+24T>C) c.6921+24T>C (n.6921+24T>C) c.6858+24T>C (n.6858+24T>C) c.5856+24T>C (n.5856+24T>C) c.304+24T>C c.7057+24T>C (n.7057+24T>C) c.64+949T>C n.335+24T>C c.6912+24T>C (n.6912+24T>C) c.6888+24T>C (n.6888+24T>C) c.6948+24T>C (n.6948+24T>C) | dbSNP |
17 | g.31338829T>G | CA2733228677 | NF1 | c.6903+24T>G (n.6903+24T>G) c.1485+24T>G (n.1485+24T>G) n.2767T>G c.1077+24T>G (n.1077+24T>G) n.3566+24T>G c.6951+24T>G (n.6951+24T>G) c.6921+24T>G (n.6921+24T>G) c.6858+24T>G (n.6858+24T>G) c.5856+24T>G (n.5856+24T>G) c.304+24T>G c.7057+24T>G (n.7057+24T>G) c.64+949T>G n.335+24T>G c.6912+24T>G (n.6912+24T>G) c.6888+24T>G (n.6888+24T>G) c.6948+24T>G (n.6948+24T>G) | dbSNP |
17 | g.31338829T= | CA2255603188 | NF1 | c.6903+24T= (n.6903+24T=) c.1485+24T= (n.1485+24T=) n.2767T= c.1077+24T= (n.1077+24T=) n.3566+24T= c.6951+24T= (n.6951+24T=) c.6921+24T= (n.6921+24T=) c.6858+24T= (n.6858+24T=) c.5856+24T= (n.5856+24T=) c.304+24T= c.7057+24T= (n.7057+24T=) c.64+949T= n.335+24T= c.6912+24T= (n.6912+24T=) c.6888+24T= (n.6888+24T=) c.6948+24T= (n.6948+24T=) | |
17 | g.31338830G>T | CA2637079084 | NF1 | c.6903+25G>T (n.6903+25G>T) c.1485+25G>T (n.1485+25G>T) n.2768G>T c.1077+25G>T (n.1077+25G>T) n.3566+25G>T c.6951+25G>T (n.6951+25G>T) c.6921+25G>T (n.6921+25G>T) c.6858+25G>T (n.6858+25G>T) c.5856+25G>T (n.5856+25G>T) c.304+25G>T c.7057+25G>T (n.7057+25G>T) c.64+950G>T n.335+25G>T c.6912+25G>T (n.6912+25G>T) c.6888+25G>T (n.6888+25G>T) c.6948+25G>T (n.6948+25G>T) | gnomAD v4 |
17 | g.31338831C>A | CA2637079085 | NF1 | c.6903+26C>A (n.6903+26C>A) c.1485+26C>A (n.1485+26C>A) n.2769C>A c.1077+26C>A (n.1077+26C>A) n.3566+26C>A c.6951+26C>A (n.6951+26C>A) c.6921+26C>A (n.6921+26C>A) c.6858+26C>A (n.6858+26C>A) c.5856+26C>A (n.5856+26C>A) c.304+26C>A c.7057+26C>A (n.7057+26C>A) c.64+951C>A n.335+26C>A c.6912+26C>A (n.6912+26C>A) c.6888+26C>A (n.6888+26C>A) c.6948+26C>A (n.6948+26C>A) | gnomAD v4 |
17 | g.31338831C>G | CA2733616713 | NF1 | c.6903+26C>G (n.6903+26C>G) c.1485+26C>G (n.1485+26C>G) n.2769C>G c.1077+26C>G (n.1077+26C>G) n.3566+26C>G c.6951+26C>G (n.6951+26C>G) c.6921+26C>G (n.6921+26C>G) c.6858+26C>G (n.6858+26C>G) c.5856+26C>G (n.5856+26C>G) c.304+26C>G c.7057+26C>G (n.7057+26C>G) c.64+951C>G n.335+26C>G c.6912+26C>G (n.6912+26C>G) c.6888+26C>G (n.6888+26C>G) c.6948+26C>G (n.6948+26C>G) | dbSNP |
17 | g.31338831C>T | CA2733616711 | NF1 | c.6903+26C>T (n.6903+26C>T) c.1485+26C>T (n.1485+26C>T) n.2769C>T c.1077+26C>T (n.1077+26C>T) n.3566+26C>T c.6951+26C>T (n.6951+26C>T) c.6921+26C>T (n.6921+26C>T) c.6858+26C>T (n.6858+26C>T) c.5856+26C>T (n.5856+26C>T) c.304+26C>T c.7057+26C>T (n.7057+26C>T) c.64+951C>T n.335+26C>T c.6912+26C>T (n.6912+26C>T) c.6888+26C>T (n.6888+26C>T) c.6948+26C>T (n.6948+26C>T) | dbSNP |
17 | g.31338832A= | CA2255603189 | NF1 | c.6903+27A= (n.6903+27A=) c.1485+27A= (n.1485+27A=) n.2770A= c.1077+27A= (n.1077+27A=) n.3566+27A= c.6951+27A= (n.6951+27A=) c.6921+27A= (n.6921+27A=) c.6858+27A= (n.6858+27A=) c.5856+27A= (n.5856+27A=) c.304+27A= c.7057+27A= (n.7057+27A=) c.64+952A= n.335+27A= c.6912+27A= (n.6912+27A=) c.6888+27A= (n.6888+27A=) c.6948+27A= (n.6948+27A=) | |
17 | g.31338832A>G | CA8487453 | NF1 | c.6903+27A>G (n.6903+27A>G) c.1485+27A>G (n.1485+27A>G) n.2770A>G c.1077+27A>G (n.1077+27A>G) n.3566+27A>G c.6951+27A>G (n.6951+27A>G) c.6921+27A>G (n.6921+27A>G) c.6858+27A>G (n.6858+27A>G) c.5856+27A>G (n.5856+27A>G) c.304+27A>G c.7057+27A>G (n.7057+27A>G) c.64+952A>G n.335+27A>G c.6912+27A>G (n.6912+27A>G) c.6888+27A>G (n.6888+27A>G) c.6948+27A>G (n.6948+27A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.31338833T>C | CA2576223771 | NF1 | c.6903+28T>C (n.6903+28T>C) c.1485+28T>C (n.1485+28T>C) n.2771T>C c.1077+28T>C (n.1077+28T>C) n.3566+28T>C c.6951+28T>C (n.6951+28T>C) c.6921+28T>C (n.6921+28T>C) c.6858+28T>C (n.6858+28T>C) c.5856+28T>C (n.5856+28T>C) c.304+28T>C c.7057+28T>C (n.7057+28T>C) c.64+953T>C n.335+28T>C c.6912+28T>C (n.6912+28T>C) c.6888+28T>C (n.6888+28T>C) c.6948+28T>C (n.6948+28T>C) | gnomAD v4 |
17 | g.31338834T>C | CA289388591 | NF1 | c.6903+29T>C (n.6903+29T>C) c.1485+29T>C (n.1485+29T>C) n.2772T>C c.1077+29T>C (n.1077+29T>C) n.3566+29T>C c.6951+29T>C (n.6951+29T>C) c.6921+29T>C (n.6921+29T>C) c.6858+29T>C (n.6858+29T>C) c.5856+29T>C (n.5856+29T>C) c.304+29T>C c.7057+29T>C (n.7057+29T>C) c.64+954T>C n.335+29T>C c.6912+29T>C (n.6912+29T>C) c.6888+29T>C (n.6888+29T>C) c.6948+29T>C (n.6948+29T>C) | dbSNP |
17 | g.31338834T= | CA2255603190 | NF1 | c.6903+29T= (n.6903+29T=) c.1485+29T= (n.1485+29T=) n.2772T= c.1077+29T= (n.1077+29T=) n.3566+29T= c.6951+29T= (n.6951+29T=) c.6921+29T= (n.6921+29T=) c.6858+29T= (n.6858+29T=) c.5856+29T= (n.5856+29T=) c.304+29T= c.7057+29T= (n.7057+29T=) c.64+954T= n.335+29T= c.6912+29T= (n.6912+29T=) c.6888+29T= (n.6888+29T=) c.6948+29T= (n.6948+29T=) | |
17 | g.31338835del | CA2637079094 | NF1 | c.6903+30del (n.6903+30del) c.1485+30del (n.1485+30del) n.2773del c.1077+30del (n.1077+30del) n.3566+30del c.6951+30del (n.6951+30del) c.6921+30del (n.6921+30del) c.6858+30del (n.6858+30del) c.5856+30del (n.5856+30del) c.304+30del c.7057+30del (n.7057+30del) c.64+955del n.335+30del c.6912+30del (n.6912+30del) c.6888+30del (n.6888+30del) c.6948+30del (n.6948+30del) | gnomAD v4 |
17 | g.31338835C>A | CA2637079097 | NF1 | c.6903+30C>A (n.6903+30C>A) c.1485+30C>A (n.1485+30C>A) n.2773C>A c.1077+30C>A (n.1077+30C>A) n.3566+30C>A c.6951+30C>A (n.6951+30C>A) c.6921+30C>A (n.6921+30C>A) c.6858+30C>A (n.6858+30C>A) c.5856+30C>A (n.5856+30C>A) c.304+30C>A c.7057+30C>A (n.7057+30C>A) c.64+955C>A n.335+30C>A c.6912+30C>A (n.6912+30C>A) c.6888+30C>A (n.6888+30C>A) c.6948+30C>A (n.6948+30C>A) | gnomAD v4 |
17 | g.31338835C= | CA2255603191 | NF1 | c.6903+30C= (n.6903+30C=) c.1485+30C= (n.1485+30C=) n.2773C= c.1077+30C= (n.1077+30C=) n.3566+30C= c.6951+30C= (n.6951+30C=) c.6921+30C= (n.6921+30C=) c.6858+30C= (n.6858+30C=) c.5856+30C= (n.5856+30C=) c.304+30C= c.7057+30C= (n.7057+30C=) c.64+955C= n.335+30C= c.6912+30C= (n.6912+30C=) c.6888+30C= (n.6888+30C=) c.6948+30C= (n.6948+30C=) | |
17 | g.31338835C>G | CA2733210540 | NF1 | c.6903+30C>G (n.6903+30C>G) c.1485+30C>G (n.1485+30C>G) n.2773C>G c.1077+30C>G (n.1077+30C>G) n.3566+30C>G c.6951+30C>G (n.6951+30C>G) c.6921+30C>G (n.6921+30C>G) c.6858+30C>G (n.6858+30C>G) c.5856+30C>G (n.5856+30C>G) c.304+30C>G c.7057+30C>G (n.7057+30C>G) c.64+955C>G n.335+30C>G c.6912+30C>G (n.6912+30C>G) c.6888+30C>G (n.6888+30C>G) c.6948+30C>G (n.6948+30C>G) | dbSNP |
17 | g.31338835C>T | CA8487454 | NF1 | c.6903+30C>T (n.6903+30C>T) c.1485+30C>T (n.1485+30C>T) n.2773C>T c.1077+30C>T (n.1077+30C>T) n.3566+30C>T c.6951+30C>T (n.6951+30C>T) c.6921+30C>T (n.6921+30C>T) c.6858+30C>T (n.6858+30C>T) c.5856+30C>T (n.5856+30C>T) c.304+30C>T c.7057+30C>T (n.7057+30C>T) c.64+955C>T n.335+30C>T c.6912+30C>T (n.6912+30C>T) c.6888+30C>T (n.6888+30C>T) c.6948+30C>T (n.6948+30C>T) | dbSNP ExAC gnomAD v2 |
17 | g.31338837T>A | CA2637079122 | NF1 | c.6903+32T>A (n.6903+32T>A) c.1485+32T>A (n.1485+32T>A) n.2775T>A c.1077+32T>A (n.1077+32T>A) n.3566+32T>A c.6951+32T>A (n.6951+32T>A) c.6921+32T>A (n.6921+32T>A) c.6858+32T>A (n.6858+32T>A) c.5856+32T>A (n.5856+32T>A) c.304+32T>A c.7057+32T>A (n.7057+32T>A) c.64+957T>A n.335+32T>A c.6912+32T>A (n.6912+32T>A) c.6888+32T>A (n.6888+32T>A) c.6948+32T>A (n.6948+32T>A) | gnomAD v4 |
17 | g.31338838T>A | CA2637079123 | NF1 | c.6903+33T>A (n.6903+33T>A) c.1485+33T>A (n.1485+33T>A) n.2776T>A c.1077+33T>A (n.1077+33T>A) n.3566+33T>A c.6951+33T>A (n.6951+33T>A) c.6921+33T>A (n.6921+33T>A) c.6858+33T>A (n.6858+33T>A) c.5856+33T>A (n.5856+33T>A) c.304+33T>A c.7057+33T>A (n.7057+33T>A) c.64+958T>A n.335+33T>A c.6912+33T>A (n.6912+33T>A) c.6888+33T>A (n.6888+33T>A) c.6948+33T>A (n.6948+33T>A) | gnomAD v4 |
17 | g.31338839T>A | CA2733360677 | NF1 | c.6903+34T>A (n.6903+34T>A) c.1485+34T>A (n.1485+34T>A) n.2777T>A c.1077+34T>A (n.1077+34T>A) n.3566+34T>A c.6951+34T>A (n.6951+34T>A) c.6921+34T>A (n.6921+34T>A) c.6858+34T>A (n.6858+34T>A) c.5856+34T>A (n.5856+34T>A) c.304+34T>A c.7057+34T>A (n.7057+34T>A) c.64+959T>A n.335+34T>A c.6912+34T>A (n.6912+34T>A) c.6888+34T>A (n.6888+34T>A) c.6948+34T>A (n.6948+34T>A) | dbSNP |
17 | g.31338839T>C | CA2255603193 | NF1 | c.6903+34T>C (n.6903+34T>C) c.1485+34T>C (n.1485+34T>C) n.2777T>C c.1077+34T>C (n.1077+34T>C) n.3566+34T>C c.6951+34T>C (n.6951+34T>C) c.6921+34T>C (n.6921+34T>C) c.6858+34T>C (n.6858+34T>C) c.5856+34T>C (n.5856+34T>C) c.304+34T>C c.7057+34T>C (n.7057+34T>C) c.64+959T>C n.335+34T>C c.6912+34T>C (n.6912+34T>C) c.6888+34T>C (n.6888+34T>C) c.6948+34T>C (n.6948+34T>C) | dbSNP gnomAD v4 |
17 | g.31338839T= | CA2255603192 | NF1 | c.6903+34T= (n.6903+34T=) c.1485+34T= (n.1485+34T=) n.2777T= c.1077+34T= (n.1077+34T=) n.3566+34T= c.6951+34T= (n.6951+34T=) c.6921+34T= (n.6921+34T=) c.6858+34T= (n.6858+34T=) c.5856+34T= (n.5856+34T=) c.304+34T= c.7057+34T= (n.7057+34T=) c.64+959T= n.335+34T= c.6912+34T= (n.6912+34T=) c.6888+34T= (n.6888+34T=) c.6948+34T= (n.6948+34T=) |