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.31247062_31255896delinsTTTACTTAGGT | CA277569 | NF1 | c.4020-1922_4156-2448delinsTTTACTTAGGT n.80+639_280-2448delinsTTTACTTAGGT n.683-1922_819-2448delinsTTTACTTAGGT c.4005-1922_4204-2448delinsTTTACTTAGGT c.3975-1922_4174-2448delinsTTTACTTAGGT c.3975-1922_4111-2448delinsTTTACTTAGGT c.2973-1922_3109-2448delinsTTTACTTAGGT c.451-1922_650-1791delinsTTTACTTAGGT c.451-1922_587-1791delinsTTTACTTAGGT n.2511-1922_2647-2448delinsTTTACTTAGGT c.4077-1922_4213-2448delinsTTTACTTAGGT c.3966-1922_4165-2448delinsTTTACTTAGGT c.4005-1922_4141-2448delinsTTTACTTAGGT c.4002-1922_4201-2448delinsTTTACTTAGGT | ClinVar |
| 17 | g.31248982_31249027dup | CA2573153304 | NF1 | c.4020-2_4063dup c.1438-2_1481dup n.81-2_124dup n.683-2_726dup c.4005-2_4048dup c.3975-2_4018dup c.2973-2_3016dup c.451-2_494dup n.2511-2_2554dup c.3750-2_3793dup c.4077-2_4120dup c.3966-2_4009dup c.4002-2_4045dup | ClinVar dbSNP |
| 17 | g.31248992_31248995del | CA2695225758 | NF1 | c.4028_4031del (p.Pro1343GlnfsTer14) c.1446_1449del (n.1446_1449del) n.89_92del n.691_694del c.4013_4016del (p.Pro1338GlnfsTer14) c.3983_3986del (p.Pro1328GlnfsTer14) c.2981_2984del (p.Pro994GlnfsTer14) c.459_462del n.2519_2522del c.3758_3761del c.4085_4088del (p.Pro1362GlnfsTer14) c.3974_3977del (p.Pro1325GlnfsTer14) c.4010_4013del (p.Pro1337GlnfsTer14) | |
| 17 | g.31248993A= | CA2255566552 | NF1 | c.4029A= (p.Pro1343=) c.1447A= (n.1447A=) n.90A= n.692A= c.4014A= (p.Pro1338=) c.3984A= (p.Pro1328=) c.2982A= (p.Pro994=) c.460A= n.2520A= c.3759A= c.4086A= (p.Pro1362=) c.3975A= (p.Pro1325=) c.4011A= (p.Pro1337=) | |
| 17 | g.31248993A>C | CA499233051 | NF1 | c.4029A>C (p.Pro1343=) c.1447A>C (n.1447A>C) n.90A>C n.692A>C c.4014A>C (p.Pro1338=) c.3984A>C (p.Pro1328=) c.2982A>C (p.Pro994=) c.460A>C n.2520A>C c.3759A>C c.4086A>C (p.Pro1362=) c.3975A>C (p.Pro1325=) c.4011A>C (p.Pro1337=) | |
| 17 | g.31248993A>G | CA499233052 | NF1 | c.4029A>G (p.Pro1343=) c.1447A>G (n.1447A>G) n.90A>G n.692A>G c.4014A>G (p.Pro1338=) c.3984A>G (p.Pro1328=) c.2982A>G (p.Pro994=) c.460A>G n.2520A>G c.3759A>G c.4086A>G (p.Pro1362=) c.3975A>G (p.Pro1325=) c.4011A>G (p.Pro1337=) | dbSNP gnomAD v4 |
| 17 | g.31248993A>T | CA499233053 | NF1 | c.4029A>T (p.Pro1343=) c.1447A>T (n.1447A>T) n.90A>T n.692A>T c.4014A>T (p.Pro1338=) c.3984A>T (p.Pro1328=) c.2982A>T (p.Pro994=) c.460A>T n.2520A>T c.3759A>T c.4086A>T (p.Pro1362=) c.3975A>T (p.Pro1325=) c.4011A>T (p.Pro1337=) | |
| 17 | g.31248994T>A | CA398994826 | NF1 | c.4030T>A (p.Ser1344Thr) c.1448T>A (n.1448T>A) n.91T>A n.693T>A c.4015T>A (p.Ser1339Thr) c.3985T>A (p.Ser1329Thr) c.2983T>A (p.Ser995Thr) c.461T>A n.2521T>A c.3760T>A c.4087T>A (p.Ser1363Thr) c.3976T>A (p.Ser1326Thr) c.4012T>A (p.Ser1338Thr) | |
| 17 | g.31248994T>C | CA398994827 | NF1 | c.4030T>C (p.Ser1344Pro) c.1448T>C (n.1448T>C) n.91T>C n.693T>C c.4015T>C (p.Ser1339Pro) c.3985T>C (p.Ser1329Pro) c.2983T>C (p.Ser995Pro) c.461T>C n.2521T>C c.3760T>C c.4087T>C (p.Ser1363Pro) c.3976T>C (p.Ser1326Pro) c.4012T>C (p.Ser1338Pro) | |
| 17 | g.31248994T>G | CA398994828 | NF1 | c.4030T>G (p.Ser1344Ala) c.1448T>G (n.1448T>G) n.91T>G n.693T>G c.4015T>G (p.Ser1339Ala) c.3985T>G (p.Ser1329Ala) c.2983T>G (p.Ser995Ala) c.461T>G n.2521T>G c.3760T>G c.4087T>G (p.Ser1363Ala) c.3976T>G (p.Ser1326Ala) c.4012T>G (p.Ser1338Ala) | |
| 17 | g.31248994T= | CA2255566553 | NF1 | c.4030T= (p.Ser1344=) c.1448T= (n.1448T=) n.91T= n.693T= c.4015T= (p.Ser1339=) c.3985T= (p.Ser1329=) c.2983T= (p.Ser995=) c.461T= n.2521T= c.3760T= c.4087T= (p.Ser1363=) c.3976T= (p.Ser1326=) c.4012T= (p.Ser1338=) | |
| 17 | g.31248995C>A | CA16615504 | NF1 | c.4031C>A (p.Ser1344Ter) c.1449C>A (n.1449C>A) n.92C>A n.694C>A c.4016C>A (p.Ser1339Ter) c.3986C>A (p.Ser1329Ter) c.2984C>A (p.Ser995Ter) c.462C>A n.2522C>A c.3761C>A c.4088C>A (p.Ser1363Ter) c.3977C>A (p.Ser1326Ter) c.4013C>A (p.Ser1338Ter) | ClinVar dbSNP |
| 17 | g.31248995C= | CA2255566556 | NF1 | c.4031C= (p.Ser1344=) c.1449C= (n.1449C=) n.92C= n.694C= c.4016C= (p.Ser1339=) c.3986C= (p.Ser1329=) c.2984C= (p.Ser995=) c.462C= n.2522C= c.3761C= c.4088C= (p.Ser1363=) c.3977C= (p.Ser1326=) c.4013C= (p.Ser1338=) | |
| 17 | g.31248995C>G | CA398994830 | NF1 | c.4031C>G (p.Ser1344Ter) c.1449C>G (n.1449C>G) n.92C>G n.694C>G c.4016C>G (p.Ser1339Ter) c.3986C>G (p.Ser1329Ter) c.2984C>G (p.Ser995Ter) c.462C>G n.2522C>G c.3761C>G c.4088C>G (p.Ser1363Ter) c.3977C>G (p.Ser1326Ter) c.4013C>G (p.Ser1338Ter) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.31248995C>T | CA398994829 | NF1 | c.4031C>T (p.Ser1344Leu) c.1449C>T (n.1449C>T) n.92C>T n.694C>T c.4016C>T (p.Ser1339Leu) c.3986C>T (p.Ser1329Leu) c.2984C>T (p.Ser995Leu) c.462C>T n.2522C>T c.3761C>T c.4088C>T (p.Ser1363Leu) c.3977C>T (p.Ser1326Leu) c.4013C>T (p.Ser1338Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31248995dup | CA2255566557 | NF1 | c.4031dup (p.Glu1345ArgfsTer4) c.1449dup (n.1449dup) n.92dup n.694dup c.4016dup (p.Glu1340ArgfsTer4) c.3986dup (p.Glu1330ArgfsTer4) c.2984dup (p.Glu996ArgfsTer4) c.462dup n.2522dup c.3761dup c.4088dup (p.Glu1364ArgfsTer4) c.3977dup (p.Glu1327ArgfsTer4) c.4013dup (p.Glu1339ArgfsTer4) | dbSNP |
| 17 | g.31248996A= | CA2255566562 | NF1 | c.4032A= (p.Ser1344=) c.1450A= (n.1450A=) n.93A= n.695A= c.4017A= (p.Ser1339=) c.3987A= (p.Ser1329=) c.2985A= (p.Ser995=) c.463A= n.2523A= c.3762A= c.4089A= (p.Ser1363=) c.3978A= (p.Ser1326=) c.4014A= (p.Ser1338=) | |
| 17 | g.31248996A>C | CA499233054 | NF1 | c.4032A>C (p.Ser1344=) c.1450A>C (n.1450A>C) n.93A>C n.695A>C c.4017A>C (p.Ser1339=) c.3987A>C (p.Ser1329=) c.2985A>C (p.Ser995=) c.463A>C n.2523A>C c.3762A>C c.4089A>C (p.Ser1363=) c.3978A>C (p.Ser1326=) c.4014A>C (p.Ser1338=) | |
| 17 | g.31248996A>G | CA8486313 | NF1 | c.4032A>G (p.Ser1344=) c.1450A>G (n.1450A>G) n.93A>G n.695A>G c.4017A>G (p.Ser1339=) c.3987A>G (p.Ser1329=) c.2985A>G (p.Ser995=) c.463A>G n.2523A>G c.3762A>G c.4089A>G (p.Ser1363=) c.3978A>G (p.Ser1326=) c.4014A>G (p.Ser1338=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.31248996A>T | CA499233055 | NF1 | c.4032A>T (p.Ser1344=) c.1450A>T (n.1450A>T) n.93A>T n.695A>T c.4017A>T (p.Ser1339=) c.3987A>T (p.Ser1329=) c.2985A>T (p.Ser995=) c.463A>T n.2523A>T c.3762A>T c.4089A>T (p.Ser1363=) c.3978A>T (p.Ser1326=) c.4014A>T (p.Ser1338=) | dbSNP |
| 17 | g.31248996dup | CA2695225760 | NF1 | c.4032dup (p.Glu1345ArgfsTer4) c.1450dup (n.1450dup) n.93dup n.695dup c.4017dup (p.Glu1340ArgfsTer4) c.3987dup (p.Glu1330ArgfsTer4) c.2985dup (p.Glu996ArgfsTer4) c.463dup n.2523dup c.3762dup c.4089dup (p.Glu1364ArgfsTer4) c.3978dup (p.Glu1327ArgfsTer4) c.4014dup (p.Glu1339ArgfsTer4) | |
| 17 | g.31249000_31249001del | CA658761094 | NF1 | c.4036_4037del (p.Ser1346ProfsTer2) c.1454_1455del (n.1454_1455del) n.97_98del n.699_700del c.4021_4022del (p.Ser1341ProfsTer2) c.3991_3992del (p.Ser1331ProfsTer2) c.2989_2990del (p.Ser997ProfsTer2) c.467_468del n.2527_2528del c.3766_3767del c.4093_4094del (p.Ser1365ProfsTer2) c.3982_3983del (p.Ser1328ProfsTer2) c.4018_4019del (p.Ser1340ProfsTer2) | ClinVar |
| 17 | g.31248998_31249001del | CA2695225761 | NF1 | c.4034_4037del (p.Glu1345AlafsTer12) c.1452_1455del (n.1452_1455del) n.95_98del n.697_700del c.4019_4022del (p.Glu1340AlafsTer12) c.3989_3992del (p.Glu1330AlafsTer12) c.2987_2990del (p.Glu996AlafsTer12) c.465_468del n.2525_2528del c.3764_3767del c.4091_4094del (p.Glu1364AlafsTer12) c.3980_3983del (p.Glu1327AlafsTer12) c.4016_4019del (p.Glu1339AlafsTer12) | |
| 17 | g.31248997G>A | CA398994831 | NF1 | c.4033G>A (p.Glu1345Lys) c.1451G>A (n.1451G>A) n.94G>A n.696G>A c.4018G>A (p.Glu1340Lys) c.3988G>A (p.Glu1330Lys) c.2986G>A (p.Glu996Lys) c.464G>A n.2524G>A c.3763G>A c.4090G>A (p.Glu1364Lys) c.3979G>A (p.Glu1327Lys) c.4015G>A (p.Glu1339Lys) | ClinVar dbSNP |
| 17 | g.31248997G>C | CA398994832 | NF1 | c.4033G>C (p.Glu1345Gln) c.1451G>C (n.1451G>C) n.94G>C n.696G>C c.4018G>C (p.Glu1340Gln) c.3988G>C (p.Glu1330Gln) c.2986G>C (p.Glu996Gln) c.464G>C n.2524G>C c.3763G>C c.4090G>C (p.Glu1364Gln) c.3979G>C (p.Glu1327Gln) c.4015G>C (p.Glu1339Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.31248997G= | CA2255566564 | NF1 | c.4033G= (p.Glu1345=) c.1451G= (n.1451G=) n.94G= n.696G= c.4018G= (p.Glu1340=) c.3988G= (p.Glu1330=) c.2986G= (p.Glu996=) c.464G= n.2524G= c.3763G= c.4090G= (p.Glu1364=) c.3979G= (p.Glu1327=) c.4015G= (p.Glu1339=) | |
| 17 | g.31248997G>T | CA398994833 | NF1 | c.4033G>T (p.Glu1345Ter) c.1451G>T (n.1451G>T) n.94G>T n.696G>T c.4018G>T (p.Glu1340Ter) c.3988G>T (p.Glu1330Ter) c.2986G>T (p.Glu996Ter) c.464G>T n.2524G>T c.3763G>T c.4090G>T (p.Glu1364Ter) c.3979G>T (p.Glu1327Ter) c.4015G>T (p.Glu1339Ter) | |
| 17 | g.31248998A= | CA2255566565 | NF1 | c.4034A= (p.Glu1345=) c.1452A= (n.1452A=) n.95A= n.697A= c.4019A= (p.Glu1340=) c.3989A= (p.Glu1330=) c.2987A= (p.Glu996=) c.465A= n.2525A= c.3764A= c.4091A= (p.Glu1364=) c.3980A= (p.Glu1327=) c.4016A= (p.Glu1339=) | |
| 17 | g.31248998A>C | CA398994834 | NF1 | c.4034A>C (p.Glu1345Ala) c.1452A>C (n.1452A>C) n.95A>C n.697A>C c.4019A>C (p.Glu1340Ala) c.3989A>C (p.Glu1330Ala) c.2987A>C (p.Glu996Ala) c.465A>C n.2525A>C c.3764A>C c.4091A>C (p.Glu1364Ala) c.3980A>C (p.Glu1327Ala) c.4016A>C (p.Glu1339Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.31248998A>G | CA398994835 | NF1 | c.4034A>G (p.Glu1345Gly) c.1452A>G (n.1452A>G) n.95A>G n.697A>G c.4019A>G (p.Glu1340Gly) c.3989A>G (p.Glu1330Gly) c.2987A>G (p.Glu996Gly) c.465A>G n.2525A>G c.3764A>G c.4091A>G (p.Glu1364Gly) c.3980A>G (p.Glu1327Gly) c.4016A>G (p.Glu1339Gly) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31248998A>T | CA398994836 | NF1 | c.4034A>T (p.Glu1345Val) c.1452A>T (n.1452A>T) n.95A>T n.697A>T c.4019A>T (p.Glu1340Val) c.3989A>T (p.Glu1330Val) c.2987A>T (p.Glu996Val) c.465A>T n.2525A>T c.3764A>T c.4091A>T (p.Glu1364Val) c.3980A>T (p.Glu1327Val) c.4016A>T (p.Glu1339Val) | |
| 17 | g.31248999G>A | CA336022 | NF1 | c.4035G>A (p.Glu1345=) c.1453G>A (n.1453G>A) n.96G>A n.698G>A c.4020G>A (p.Glu1340=) c.3990G>A (p.Glu1330=) c.2988G>A (p.Glu996=) c.466G>A n.2526G>A c.3765G>A c.4092G>A (p.Glu1364=) c.3981G>A (p.Glu1327=) c.4017G>A (p.Glu1339=) | ClinVar dbSNP |
| 17 | g.31248999G>C | CA398994837 | NF1 | c.4035G>C (p.Glu1345Asp) c.1453G>C (n.1453G>C) n.96G>C n.698G>C c.4020G>C (p.Glu1340Asp) c.3990G>C (p.Glu1330Asp) c.2988G>C (p.Glu996Asp) c.466G>C n.2526G>C c.3765G>C c.4092G>C (p.Glu1364Asp) c.3981G>C (p.Glu1327Asp) c.4017G>C (p.Glu1339Asp) | dbSNP |
| 17 | g.31248999G= | CA2255566567 | NF1 | c.4035G= (p.Glu1345=) c.1453G= (n.1453G=) n.96G= n.698G= c.4020G= (p.Glu1340=) c.3990G= (p.Glu1330=) c.2988G= (p.Glu996=) c.466G= n.2526G= c.3765G= c.4092G= (p.Glu1364=) c.3981G= (p.Glu1327=) c.4017G= (p.Glu1339=) | |
| 17 | g.31248999G>T | CA398994838 | NF1 | c.4035G>T (p.Glu1345Asp) c.1453G>T (n.1453G>T) n.96G>T n.698G>T c.4020G>T (p.Glu1340Asp) c.3990G>T (p.Glu1330Asp) c.2988G>T (p.Glu996Asp) c.466G>T n.2526G>T c.3765G>T c.4092G>T (p.Glu1364Asp) c.3981G>T (p.Glu1327Asp) c.4017G>T (p.Glu1339Asp) | dbSNP |
| 17 | g.31249000del | CA2573153306 | NF1 | c.4036del (p.Ser1346AlafsTer12) c.1454del (n.1454del) n.97del n.699del c.4021del (p.Ser1341AlafsTer12) c.3991del (p.Ser1331AlafsTer12) c.2989del (p.Ser997AlafsTer12) c.467del n.2527del c.3766del c.4093del (p.Ser1365AlafsTer12) c.3982del (p.Ser1328AlafsTer12) c.4018del (p.Ser1340AlafsTer12) | ClinVar dbSNP |
| 17 | g.31249000A= | CA2255566569 | NF1 | c.4036A= (p.Ser1346=) c.1454A= (n.1454A=) n.97A= n.699A= c.4021A= (p.Ser1341=) c.3991A= (p.Ser1331=) c.2989A= (p.Ser997=) c.467A= n.2527A= c.3766A= c.4093A= (p.Ser1365=) c.3982A= (p.Ser1328=) c.4018A= (p.Ser1340=) | |
| 17 | g.31249000A>C | CA398994839 | NF1 | c.4036A>C (p.Ser1346Arg) c.1454A>C (n.1454A>C) n.97A>C n.699A>C c.4021A>C (p.Ser1341Arg) c.3991A>C (p.Ser1331Arg) c.2989A>C (p.Ser997Arg) c.467A>C n.2527A>C c.3766A>C c.4093A>C (p.Ser1365Arg) c.3982A>C (p.Ser1328Arg) c.4018A>C (p.Ser1340Arg) | |
| 17 | g.31249000A>G | CA398994840 | NF1 | c.4036A>G (p.Ser1346Gly) c.1454A>G (n.1454A>G) n.97A>G n.699A>G c.4021A>G (p.Ser1341Gly) c.3991A>G (p.Ser1331Gly) c.2989A>G (p.Ser997Gly) c.467A>G n.2527A>G c.3766A>G c.4093A>G (p.Ser1365Gly) c.3982A>G (p.Ser1328Gly) c.4018A>G (p.Ser1340Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.31249000A>T | CA398994841 | NF1 | c.4036A>T (p.Ser1346Cys) c.1454A>T (n.1454A>T) n.97A>T n.699A>T c.4021A>T (p.Ser1341Cys) c.3991A>T (p.Ser1331Cys) c.2989A>T (p.Ser997Cys) c.467A>T n.2527A>T c.3766A>T c.4093A>T (p.Ser1365Cys) c.3982A>T (p.Ser1328Cys) c.4018A>T (p.Ser1340Cys) | |
| 17 | g.31249001G>A | CA398994844 | NF1 | c.4037G>A (p.Ser1346Asn) c.1455G>A (n.1455G>A) n.98G>A n.700G>A c.4022G>A (p.Ser1341Asn) c.3992G>A (p.Ser1331Asn) c.2990G>A (p.Ser997Asn) c.468G>A n.2528G>A c.3767G>A c.4094G>A (p.Ser1365Asn) c.3983G>A (p.Ser1328Asn) c.4019G>A (p.Ser1340Asn) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 17 | g.31249001G>C | CA398994842 | NF1 | c.4037G>C (p.Ser1346Thr) c.1455G>C (n.1455G>C) n.98G>C n.700G>C c.4022G>C (p.Ser1341Thr) c.3992G>C (p.Ser1331Thr) c.2990G>C (p.Ser997Thr) c.468G>C n.2528G>C c.3767G>C c.4094G>C (p.Ser1365Thr) c.3983G>C (p.Ser1328Thr) c.4019G>C (p.Ser1340Thr) | ClinVar dbSNP |
| 17 | g.31249001G= | CA2255566571 | NF1 | c.4037G= (p.Ser1346=) c.1455G= (n.1455G=) n.98G= n.700G= c.4022G= (p.Ser1341=) c.3992G= (p.Ser1331=) c.2990G= (p.Ser997=) c.468G= n.2528G= c.3767G= c.4094G= (p.Ser1365=) c.3983G= (p.Ser1328=) c.4019G= (p.Ser1340=) | |
| 17 | g.31249001G>T | CA398994843 | NF1 | c.4037G>T (p.Ser1346Ile) c.1455G>T (n.1455G>T) n.98G>T n.700G>T c.4022G>T (p.Ser1341Ile) c.3992G>T (p.Ser1331Ile) c.2990G>T (p.Ser997Ile) c.468G>T n.2528G>T c.3767G>T c.4094G>T (p.Ser1365Ile) c.3983G>T (p.Ser1328Ile) c.4019G>T (p.Ser1340Ile) | |
| 17 | g.31249002C>A | CA398994845 | NF1 | c.4038C>A (p.Ser1346Arg) c.1456C>A (n.1456C>A) n.99C>A n.701C>A c.4023C>A (p.Ser1341Arg) c.3993C>A (p.Ser1331Arg) c.2991C>A (p.Ser997Arg) c.469C>A n.2529C>A c.3768C>A c.4095C>A (p.Ser1365Arg) c.3984C>A (p.Ser1328Arg) c.4020C>A (p.Ser1340Arg) | dbSNP |
| 17 | g.31249002C= | CA2255566573 | NF1 | c.4038C= (p.Ser1346=) c.1456C= (n.1456C=) n.99C= n.701C= c.4023C= (p.Ser1341=) c.3993C= (p.Ser1331=) c.2991C= (p.Ser997=) c.469C= n.2529C= c.3768C= c.4095C= (p.Ser1365=) c.3984C= (p.Ser1328=) c.4020C= (p.Ser1340=) | |
| 17 | g.31249002C>G | CA398994846 | NF1 | c.4038C>G (p.Ser1346Arg) c.1456C>G (n.1456C>G) n.99C>G n.701C>G c.4023C>G (p.Ser1341Arg) c.3993C>G (p.Ser1331Arg) c.2991C>G (p.Ser997Arg) c.469C>G n.2529C>G c.3768C>G c.4095C>G (p.Ser1365Arg) c.3984C>G (p.Ser1328Arg) c.4020C>G (p.Ser1340Arg) | ClinVar dbSNP |
| 17 | g.31249002C>T | CA499233056 | NF1 | c.4038C>T (p.Ser1346=) c.1456C>T (n.1456C>T) n.99C>T n.701C>T c.4023C>T (p.Ser1341=) c.3993C>T (p.Ser1331=) c.2991C>T (p.Ser997=) c.469C>T n.2529C>T c.3768C>T c.4095C>T (p.Ser1365=) c.3984C>T (p.Ser1328=) c.4020C>T (p.Ser1340=) | dbSNP |
| 17 | g.31249003C>A | CA398994847 | NF1 | c.4039C>A (p.Leu1347Ile) c.1457C>A (n.1457C>A) n.100C>A n.702C>A c.4024C>A (p.Leu1342Ile) c.3994C>A (p.Leu1332Ile) c.2992C>A (p.Leu998Ile) c.470C>A n.2530C>A c.3769C>A c.4096C>A (p.Leu1366Ile) c.3985C>A (p.Leu1329Ile) c.4021C>A (p.Leu1341Ile) | |
| 17 | g.31249003C>G | CA398994848 | NF1 | c.4039C>G (p.Leu1347Val) c.1457C>G (n.1457C>G) n.100C>G n.702C>G c.4024C>G (p.Leu1342Val) c.3994C>G (p.Leu1332Val) c.2992C>G (p.Leu998Val) c.470C>G n.2530C>G c.3769C>G c.4096C>G (p.Leu1366Val) c.3985C>G (p.Leu1329Val) c.4021C>G (p.Leu1341Val) | dbSNP |