UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.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.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.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.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 |