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.31258378_31258390del | CA2499224126 | NF1 | c.4190_4202del (p.Gly1397ValfsTer21) n.314_326del c.199_211del n.853_865del c.4238_4250del (p.Gly1413ValfsTer21) n.180_192del c.4208_4220del (p.Gly1403ValfsTer21) c.4145_4157del (p.Gly1382ValfsTer21) c.3143_3155del (p.Gly1048ValfsTer21) c.724_736del c.661_673del n.2681_2693del c.4247_4259del (p.Gly1416ValfsTer21) c.4199_4211del (p.Gly1400ValfsTer21) c.4175_4187del (p.Gly1392ValfsTer21) c.4235_4247del (p.Gly1412ValfsTer21) | ClinVar dbSNP |
| 17 | g.31258383_31258412dup | CA2580092858 | NF1 | c.1_30dup (p.Ile10_Asn11insValGlySerAlaMetPheLeuArgPheIle) c.4195_4224dup (p.Ile1408_Asn1409insValGlySerAlaMetPheLeuArgPheIle) n.319_348dup c.204_233dup n.858_887dup c.4243_4272dup (p.Ile1424_Asn1425insValGlySerAlaMetPheLeuArgPheIle) n.185_214dup c.4213_4242dup (p.Ile1414_Asn1415insValGlySerAlaMetPheLeuArgPheIle) c.4150_4179dup (p.Ile1393_Asn1394insValGlySerAlaMetPheLeuArgPheIle) c.3148_3177dup (p.Ile1059_Asn1060insValGlySerAlaMetPheLeuArgPheIle) c.729_758dup c.666_695dup n.2686_2715dup c.4252_4281dup (p.Ile1427_Asn1428insValGlySerAlaMetPheLeuArgPheIle) c.4204_4233dup (p.Ile1411_Asn1412insValGlySerAlaMetPheLeuArgPheIle) c.4180_4209dup (p.Ile1403_Asn1404insValGlySerAlaMetPheLeuArgPheIle) c.4240_4269dup (p.Ile1423_Asn1424insValGlySerAlaMetPheLeuArgPheIle) | ClinVar |
| 17 | g.31258388A>C | CA499233422 | NF1 | c.6A>C (p.Gly2=) c.4200A>C (p.Gly1400=) n.324A>C c.209A>C n.863A>C c.4248A>C (p.Gly1416=) n.190A>C c.4218A>C (p.Gly1406=) c.4155A>C (p.Gly1385=) c.3153A>C (p.Gly1051=) c.734A>C c.671A>C n.2691A>C c.4257A>C (p.Gly1419=) c.4209A>C (p.Gly1403=) c.4185A>C (p.Gly1395=) c.4245A>C (p.Gly1415=) | |
| 17 | g.31258388A>G | CA499233423 | NF1 | c.6A>G (p.Gly2=) c.4200A>G (p.Gly1400=) n.324A>G c.209A>G n.863A>G c.4248A>G (p.Gly1416=) n.190A>G c.4218A>G (p.Gly1406=) c.4155A>G (p.Gly1385=) c.3153A>G (p.Gly1051=) c.734A>G c.671A>G n.2691A>G c.4257A>G (p.Gly1419=) c.4209A>G (p.Gly1403=) c.4185A>G (p.Gly1395=) c.4245A>G (p.Gly1415=) | |
| 17 | g.31258388A>T | CA499233424 | NF1 | c.6A>T (p.Gly2=) c.4200A>T (p.Gly1400=) n.324A>T c.209A>T n.863A>T c.4248A>T (p.Gly1416=) n.190A>T c.4218A>T (p.Gly1406=) c.4155A>T (p.Gly1385=) c.3153A>T (p.Gly1051=) c.734A>T c.671A>T n.2691A>T c.4257A>T (p.Gly1419=) c.4209A>T (p.Gly1403=) c.4185A>T (p.Gly1395=) c.4245A>T (p.Gly1415=) | |
| 17 | g.31258389del | CA2695225652 | NF1 | c.7del (p.Ser3ValfsTer21) c.4201del (p.Ser1401ValfsTer21) n.325del c.210del n.864del c.4249del (p.Ser1417ValfsTer21) n.191del c.4219del (p.Ser1407ValfsTer21) c.4156del (p.Ser1386ValfsTer21) c.3154del (p.Ser1052ValfsTer21) c.735del c.672del n.2692del c.4258del (p.Ser1420ValfsTer21) c.4210del (p.Ser1404ValfsTer21) c.4186del (p.Ser1396ValfsTer21) c.4246del (p.Ser1416ValfsTer21) | |
| 17 | g.31258389A= | CA2255573437 | NF1 | c.7A= (p.Ser3=) c.4201A= (p.Ser1401=) n.325A= c.210A= n.864A= c.4249A= (p.Ser1417=) n.191A= c.4219A= (p.Ser1407=) c.4156A= (p.Ser1386=) c.3154A= (p.Ser1052=) c.735A= c.672A= n.2692A= c.4258A= (p.Ser1420=) c.4210A= (p.Ser1404=) c.4186A= (p.Ser1396=) c.4246A= (p.Ser1416=) | |
| 17 | g.31258389A>C | CA398997742 | NF1 | c.7A>C (p.Ser3Arg) c.4201A>C (p.Ser1401Arg) n.325A>C c.210A>C n.864A>C c.4249A>C (p.Ser1417Arg) n.191A>C c.4219A>C (p.Ser1407Arg) c.4156A>C (p.Ser1386Arg) c.3154A>C (p.Ser1052Arg) c.735A>C c.672A>C n.2692A>C c.4258A>C (p.Ser1420Arg) c.4210A>C (p.Ser1404Arg) c.4186A>C (p.Ser1396Arg) c.4246A>C (p.Ser1416Arg) | ClinVar |
| 17 | g.31258389A>G | CA165427 | NF1 | c.7A>G (p.Ser3Gly) c.4201A>G (p.Ser1401Gly) n.325A>G c.210A>G n.864A>G c.4249A>G (p.Ser1417Gly) n.191A>G c.4219A>G (p.Ser1407Gly) c.4156A>G (p.Ser1386Gly) c.3154A>G (p.Ser1052Gly) c.735A>G c.672A>G n.2692A>G c.4258A>G (p.Ser1420Gly) c.4210A>G (p.Ser1404Gly) c.4186A>G (p.Ser1396Gly) c.4246A>G (p.Ser1416Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.31258389A>T | CA398997748 | NF1 | c.7A>T (p.Ser3Cys) c.4201A>T (p.Ser1401Cys) n.325A>T c.210A>T n.864A>T c.4249A>T (p.Ser1417Cys) n.191A>T c.4219A>T (p.Ser1407Cys) c.4156A>T (p.Ser1386Cys) c.3154A>T (p.Ser1052Cys) c.735A>T c.672A>T n.2692A>T c.4258A>T (p.Ser1420Cys) c.4210A>T (p.Ser1404Cys) c.4186A>T (p.Ser1396Cys) c.4246A>T (p.Ser1416Cys) | dbSNP |
| 17 | g.31258390del | CA2697559739 | NF1 | c.8del (p.Ser3MetfsTer21) c.4202del (p.Ser1401MetfsTer21) n.326del c.211del n.865del c.4250del (p.Ser1417MetfsTer21) n.192del c.4220del (p.Ser1407MetfsTer21) c.4157del (p.Ser1386MetfsTer21) c.3155del (p.Ser1052MetfsTer21) c.736del c.673del n.2693del c.4259del (p.Ser1420MetfsTer21) c.4211del (p.Ser1404MetfsTer21) c.4187del (p.Ser1396MetfsTer21) c.4247del (p.Ser1416MetfsTer21) | ClinVar |
| 17 | g.31258390G>A | CA398997750 | NF1 | c.8G>A (p.Ser3Asn) c.4202G>A (p.Ser1401Asn) n.326G>A c.211G>A n.865G>A c.4250G>A (p.Ser1417Asn) n.192G>A c.4220G>A (p.Ser1407Asn) c.4157G>A (p.Ser1386Asn) c.3155G>A (p.Ser1052Asn) c.736G>A c.673G>A n.2693G>A c.4259G>A (p.Ser1420Asn) c.4211G>A (p.Ser1404Asn) c.4187G>A (p.Ser1396Asn) c.4247G>A (p.Ser1416Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.31258390G>C | CA398997756 | NF1 | c.8G>C (p.Ser3Thr) c.4202G>C (p.Ser1401Thr) n.326G>C c.211G>C n.865G>C c.4250G>C (p.Ser1417Thr) n.192G>C c.4220G>C (p.Ser1407Thr) c.4157G>C (p.Ser1386Thr) c.3155G>C (p.Ser1052Thr) c.736G>C c.673G>C n.2693G>C c.4259G>C (p.Ser1420Thr) c.4211G>C (p.Ser1404Thr) c.4187G>C (p.Ser1396Thr) c.4247G>C (p.Ser1416Thr) | dbSNP |
| 17 | g.31258390G= | CA2255573439 | NF1 | c.8G= (p.Ser3=) c.4202G= (p.Ser1401=) n.326G= c.211G= n.865G= c.4250G= (p.Ser1417=) n.192G= c.4220G= (p.Ser1407=) c.4157G= (p.Ser1386=) c.3155G= (p.Ser1052=) c.736G= c.673G= n.2693G= c.4259G= (p.Ser1420=) c.4211G= (p.Ser1404=) c.4187G= (p.Ser1396=) c.4247G= (p.Ser1416=) | |
| 17 | g.31258390G>T | CA398997753 | NF1 | c.8G>T (p.Ser3Ile) c.4202G>T (p.Ser1401Ile) n.326G>T c.211G>T n.865G>T c.4250G>T (p.Ser1417Ile) n.192G>T c.4220G>T (p.Ser1407Ile) c.4157G>T (p.Ser1386Ile) c.3155G>T (p.Ser1052Ile) c.736G>T c.673G>T n.2693G>T c.4259G>T (p.Ser1420Ile) c.4211G>T (p.Ser1404Ile) c.4187G>T (p.Ser1396Ile) c.4247G>T (p.Ser1416Ile) | |
| 17 | g.31258391T>A | CA398997762 | NF1 | c.9T>A (p.Ser3Arg) c.4203T>A (p.Ser1401Arg) n.327T>A c.212T>A n.866T>A c.4251T>A (p.Ser1417Arg) n.193T>A c.4221T>A (p.Ser1407Arg) c.4158T>A (p.Ser1386Arg) c.3156T>A (p.Ser1052Arg) c.737T>A c.674T>A n.2694T>A c.4260T>A (p.Ser1420Arg) c.4212T>A (p.Ser1404Arg) c.4188T>A (p.Ser1396Arg) c.4248T>A (p.Ser1416Arg) | ClinVar dbSNP |
| 17 | g.31258391T>C | CA499233426 | NF1 | c.9T>C (p.Ser3=) c.4203T>C (p.Ser1401=) n.327T>C c.212T>C n.866T>C c.4251T>C (p.Ser1417=) n.193T>C c.4221T>C (p.Ser1407=) c.4158T>C (p.Ser1386=) c.3156T>C (p.Ser1052=) c.737T>C c.674T>C n.2694T>C c.4260T>C (p.Ser1420=) c.4212T>C (p.Ser1404=) c.4188T>C (p.Ser1396=) c.4248T>C (p.Ser1416=) | |
| 17 | g.31258391T>G | CA398997764 | NF1 | c.9T>G (p.Ser3Arg) c.4203T>G (p.Ser1401Arg) n.327T>G c.212T>G n.866T>G c.4251T>G (p.Ser1417Arg) n.193T>G c.4221T>G (p.Ser1407Arg) c.4158T>G (p.Ser1386Arg) c.3156T>G (p.Ser1052Arg) c.737T>G c.674T>G n.2694T>G c.4260T>G (p.Ser1420Arg) c.4212T>G (p.Ser1404Arg) c.4188T>G (p.Ser1396Arg) c.4248T>G (p.Ser1416Arg) | ClinVar dbSNP |
| 17 | g.31258391T= | CA2255573440 | NF1 | c.9T= (p.Ser3=) c.4203T= (p.Ser1401=) n.327T= c.212T= n.866T= c.4251T= (p.Ser1417=) n.193T= c.4221T= (p.Ser1407=) c.4158T= (p.Ser1386=) c.3156T= (p.Ser1052=) c.737T= c.674T= n.2694T= c.4260T= (p.Ser1420=) c.4212T= (p.Ser1404=) c.4188T= (p.Ser1396=) c.4248T= (p.Ser1416=) | |
| 17 | g.31258392G>A | CA398997768 | NF1 | c.10G>A (p.Ala4Thr) c.4204G>A (p.Ala1402Thr) n.328G>A c.213G>A n.867G>A c.4252G>A (p.Ala1418Thr) n.194G>A c.4222G>A (p.Ala1408Thr) c.4159G>A (p.Ala1387Thr) c.3157G>A (p.Ala1053Thr) c.738G>A c.675G>A n.2695G>A c.4261G>A (p.Ala1421Thr) c.4213G>A (p.Ala1405Thr) c.4189G>A (p.Ala1397Thr) c.4249G>A (p.Ala1417Thr) | gnomAD v4 |
| 17 | g.31258392G>C | CA398997769 | NF1 | c.10G>C (p.Ala4Pro) c.4204G>C (p.Ala1402Pro) n.328G>C c.213G>C n.867G>C c.4252G>C (p.Ala1418Pro) n.194G>C c.4222G>C (p.Ala1408Pro) c.4159G>C (p.Ala1387Pro) c.3157G>C (p.Ala1053Pro) c.738G>C c.675G>C n.2695G>C c.4261G>C (p.Ala1421Pro) c.4213G>C (p.Ala1405Pro) c.4189G>C (p.Ala1397Pro) c.4249G>C (p.Ala1417Pro) | |
| 17 | g.31258392G>T | CA398997771 | NF1 | c.10G>T (p.Ala4Ser) c.4204G>T (p.Ala1402Ser) n.328G>T c.213G>T n.867G>T c.4252G>T (p.Ala1418Ser) n.194G>T c.4222G>T (p.Ala1408Ser) c.4159G>T (p.Ala1387Ser) c.3157G>T (p.Ala1053Ser) c.738G>T c.675G>T n.2695G>T c.4261G>T (p.Ala1421Ser) c.4213G>T (p.Ala1405Ser) c.4189G>T (p.Ala1397Ser) c.4249G>T (p.Ala1417Ser) | |
| 17 | g.31258393C>A | CA398997775 | NF1 | c.11C>A (p.Ala4Asp) c.4205C>A (p.Ala1402Asp) n.329C>A c.214C>A n.868C>A c.4253C>A (p.Ala1418Asp) n.195C>A c.4223C>A (p.Ala1408Asp) c.4160C>A (p.Ala1387Asp) c.3158C>A (p.Ala1053Asp) c.739C>A c.676C>A n.2696C>A c.4262C>A (p.Ala1421Asp) c.4214C>A (p.Ala1405Asp) c.4190C>A (p.Ala1397Asp) c.4250C>A (p.Ala1417Asp) | ClinVar dbSNP |
| 17 | g.31258393C>G | CA398997777 | NF1 | c.11C>G (p.Ala4Gly) c.4205C>G (p.Ala1402Gly) n.329C>G c.214C>G n.868C>G c.4253C>G (p.Ala1418Gly) n.195C>G c.4223C>G (p.Ala1408Gly) c.4160C>G (p.Ala1387Gly) c.3158C>G (p.Ala1053Gly) c.739C>G c.676C>G n.2696C>G c.4262C>G (p.Ala1421Gly) c.4214C>G (p.Ala1405Gly) c.4190C>G (p.Ala1397Gly) c.4250C>G (p.Ala1417Gly) | dbSNP |
| 17 | g.31258393C>T | CA398997780 | NF1 | c.11C>T (p.Ala4Val) c.4205C>T (p.Ala1402Val) n.329C>T c.214C>T n.868C>T c.4253C>T (p.Ala1418Val) n.195C>T c.4223C>T (p.Ala1408Val) c.4160C>T (p.Ala1387Val) c.3158C>T (p.Ala1053Val) c.739C>T c.676C>T n.2696C>T c.4262C>T (p.Ala1421Val) c.4214C>T (p.Ala1405Val) c.4190C>T (p.Ala1397Val) c.4250C>T (p.Ala1417Val) | dbSNP |
| 17 | g.31258394del | CA2695225653 | NF1 | c.12del (p.Met5CysfsTer19) c.4206del (p.Met1403CysfsTer19) n.330del c.215del n.869del c.4254del (p.Met1419CysfsTer19) n.196del c.4224del (p.Met1409CysfsTer19) c.4161del (p.Met1388CysfsTer19) c.3159del (p.Met1054CysfsTer19) c.740del c.677del n.2697del c.4263del (p.Met1422CysfsTer19) c.4215del (p.Met1406CysfsTer19) c.4191del (p.Met1398CysfsTer19) c.4251del (p.Met1418CysfsTer19) | |
| 17 | g.31258394C>A | CA499233428 | NF1 | c.12C>A (p.Ala4=) c.4206C>A (p.Ala1402=) n.330C>A c.215C>A n.869C>A c.4254C>A (p.Ala1418=) n.196C>A c.4224C>A (p.Ala1408=) c.4161C>A (p.Ala1387=) c.3159C>A (p.Ala1053=) c.740C>A c.677C>A n.2697C>A c.4263C>A (p.Ala1421=) c.4215C>A (p.Ala1405=) c.4191C>A (p.Ala1397=) c.4251C>A (p.Ala1417=) | |
| 17 | g.31258394C>G | CA499233430 | NF1 | c.12C>G (p.Ala4=) c.4206C>G (p.Ala1402=) n.330C>G c.215C>G n.869C>G c.4254C>G (p.Ala1418=) n.196C>G c.4224C>G (p.Ala1408=) c.4161C>G (p.Ala1387=) c.3159C>G (p.Ala1053=) c.740C>G c.677C>G n.2697C>G c.4263C>G (p.Ala1421=) c.4215C>G (p.Ala1405=) c.4191C>G (p.Ala1397=) c.4251C>G (p.Ala1417=) | dbSNP |
| 17 | g.31258394C>T | CA499233432 | NF1 | c.12C>T (p.Ala4=) c.4206C>T (p.Ala1402=) n.330C>T c.215C>T n.869C>T c.4254C>T (p.Ala1418=) n.196C>T c.4224C>T (p.Ala1408=) c.4161C>T (p.Ala1387=) c.3159C>T (p.Ala1053=) c.740C>T c.677C>T n.2697C>T c.4263C>T (p.Ala1421=) c.4215C>T (p.Ala1405=) c.4191C>T (p.Ala1397=) c.4251C>T (p.Ala1417=) | dbSNP |
| 17 | g.31258395del | CA2695225654 | NF1 | c.13del (p.Met5CysfsTer19) c.4207del (p.Met1403CysfsTer19) n.331del c.216del n.870del c.4255del (p.Met1419CysfsTer19) n.197del c.4225del (p.Met1409CysfsTer19) c.4162del (p.Met1388CysfsTer19) c.3160del (p.Met1054CysfsTer19) c.741del c.678del n.2698del c.4264del (p.Met1422CysfsTer19) c.4216del (p.Met1406CysfsTer19) c.4192del (p.Met1398CysfsTer19) c.4252del (p.Met1418CysfsTer19) | |
| 17 | g.31258395A= | CA2255573442 | NF1 | c.13A= (p.Met5=) c.4207A= (p.Met1403=) n.331A= c.216A= n.870A= c.4255A= (p.Met1419=) n.197A= c.4225A= (p.Met1409=) c.4162A= (p.Met1388=) c.3160A= (p.Met1054=) c.741A= c.678A= n.2698A= c.4264A= (p.Met1422=) c.4216A= (p.Met1406=) c.4192A= (p.Met1398=) c.4252A= (p.Met1418=) | |
| 17 | g.31258395A>C | CA398997782 | NF1 | c.13A>C (p.Met5Leu) c.4207A>C (p.Met1403Leu) n.331A>C c.216A>C n.870A>C c.4255A>C (p.Met1419Leu) n.197A>C c.4225A>C (p.Met1409Leu) c.4162A>C (p.Met1388Leu) c.3160A>C (p.Met1054Leu) c.741A>C c.678A>C n.2698A>C c.4264A>C (p.Met1422Leu) c.4216A>C (p.Met1406Leu) c.4192A>C (p.Met1398Leu) c.4252A>C (p.Met1418Leu) | dbSNP |
| 17 | g.31258395A>G | CA16615247 | NF1 | c.13A>G (p.Met5Val) c.4207A>G (p.Met1403Val) n.331A>G c.216A>G n.870A>G c.4255A>G (p.Met1419Val) n.197A>G c.4225A>G (p.Met1409Val) c.4162A>G (p.Met1388Val) c.3160A>G (p.Met1054Val) c.741A>G c.678A>G n.2698A>G c.4264A>G (p.Met1422Val) c.4216A>G (p.Met1406Val) c.4192A>G (p.Met1398Val) c.4252A>G (p.Met1418Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.31258395A>T | CA398997784 | NF1 | c.13A>T (p.Met5Leu) c.4207A>T (p.Met1403Leu) n.331A>T c.216A>T n.870A>T c.4255A>T (p.Met1419Leu) n.197A>T c.4225A>T (p.Met1409Leu) c.4162A>T (p.Met1388Leu) c.3160A>T (p.Met1054Leu) c.741A>T c.678A>T n.2698A>T c.4264A>T (p.Met1422Leu) c.4216A>T (p.Met1406Leu) c.4192A>T (p.Met1398Leu) c.4252A>T (p.Met1418Leu) | dbSNP |
| 17 | g.31258395dup | CA2580092869 | NF1 | c.13dup (p.Met5AsnfsTer15) c.4207dup (p.Met1403AsnfsTer15) n.331dup c.216dup n.870dup c.4255dup (p.Met1419AsnfsTer15) n.197dup c.4225dup (p.Met1409AsnfsTer15) c.4162dup (p.Met1388AsnfsTer15) c.3160dup (p.Met1054AsnfsTer15) c.741dup c.678dup n.2698dup c.4264dup (p.Met1422AsnfsTer15) c.4216dup (p.Met1406AsnfsTer15) c.4192dup (p.Met1398AsnfsTer15) c.4252dup (p.Met1418AsnfsTer15) | ClinVar |
| 17 | g.31258396T>A | CA398997789 | NF1 | c.14T>A (p.Met5Lys) c.4208T>A (p.Met1403Lys) n.332T>A c.217T>A n.871T>A c.4256T>A (p.Met1419Lys) n.198T>A c.4226T>A (p.Met1409Lys) c.4163T>A (p.Met1388Lys) c.3161T>A (p.Met1054Lys) c.742T>A c.679T>A n.2699T>A c.4265T>A (p.Met1422Lys) c.4217T>A (p.Met1406Lys) c.4193T>A (p.Met1398Lys) c.4253T>A (p.Met1418Lys) | |
| 17 | g.31258396T>C | CA398997792 | NF1 | c.14T>C (p.Met5Thr) c.4208T>C (p.Met1403Thr) n.332T>C c.217T>C n.871T>C c.4256T>C (p.Met1419Thr) n.198T>C c.4226T>C (p.Met1409Thr) c.4163T>C (p.Met1388Thr) c.3161T>C (p.Met1054Thr) c.742T>C c.679T>C n.2699T>C c.4265T>C (p.Met1422Thr) c.4217T>C (p.Met1406Thr) c.4193T>C (p.Met1398Thr) c.4253T>C (p.Met1418Thr) | ClinVar dbSNP |
| 17 | g.31258396T>G | CA398997787 | NF1 | c.14T>G (p.Met5Arg) c.4208T>G (p.Met1403Arg) n.332T>G c.217T>G n.871T>G c.4256T>G (p.Met1419Arg) n.198T>G c.4226T>G (p.Met1409Arg) c.4163T>G (p.Met1388Arg) c.3161T>G (p.Met1054Arg) c.742T>G c.679T>G n.2699T>G c.4265T>G (p.Met1422Arg) c.4217T>G (p.Met1406Arg) c.4193T>G (p.Met1398Arg) c.4253T>G (p.Met1418Arg) | ClinVar dbSNP |
| 17 | g.31258396T= | CA2255573444 | NF1 | c.14T= (p.Met5=) c.4208T= (p.Met1403=) n.332T= c.217T= n.871T= c.4256T= (p.Met1419=) n.198T= c.4226T= (p.Met1409=) c.4163T= (p.Met1388=) c.3161T= (p.Met1054=) c.742T= c.679T= n.2699T= c.4265T= (p.Met1422=) c.4217T= (p.Met1406=) c.4193T= (p.Met1398=) c.4253T= (p.Met1418=) | |
| 17 | g.31258397G>A | CA398997799 | NF1 | c.15G>A (p.Met5Ile) c.4209G>A (p.Met1403Ile) n.333G>A c.218G>A n.872G>A c.4257G>A (p.Met1419Ile) n.199G>A c.4227G>A (p.Met1409Ile) c.4164G>A (p.Met1388Ile) c.3162G>A (p.Met1054Ile) c.743G>A c.680G>A n.2700G>A c.4266G>A (p.Met1422Ile) c.4218G>A (p.Met1406Ile) c.4194G>A (p.Met1398Ile) c.4254G>A (p.Met1418Ile) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31258397G>C | CA190890 | NF1 | c.15G>C (p.Met5Ile) c.4209G>C (p.Met1403Ile) n.333G>C c.218G>C n.872G>C c.4257G>C (p.Met1419Ile) n.199G>C c.4227G>C (p.Met1409Ile) c.4164G>C (p.Met1388Ile) c.3162G>C (p.Met1054Ile) c.743G>C c.680G>C n.2700G>C c.4266G>C (p.Met1422Ile) c.4218G>C (p.Met1406Ile) c.4194G>C (p.Met1398Ile) c.4254G>C (p.Met1418Ile) | ClinVar dbSNP |
| 17 | g.31258397G= | CA2255573446 | NF1 | c.15G= (p.Met5=) c.4209G= (p.Met1403=) n.333G= c.218G= n.872G= c.4257G= (p.Met1419=) n.199G= c.4227G= (p.Met1409=) c.4164G= (p.Met1388=) c.3162G= (p.Met1054=) c.743G= c.680G= n.2700G= c.4266G= (p.Met1422=) c.4218G= (p.Met1406=) c.4194G= (p.Met1398=) c.4254G= (p.Met1418=) | |
| 17 | g.31258397G>T | CA398997796 | NF1 | c.15G>T (p.Met5Ile) c.4209G>T (p.Met1403Ile) n.333G>T c.218G>T n.872G>T c.4257G>T (p.Met1419Ile) n.199G>T c.4227G>T (p.Met1409Ile) c.4164G>T (p.Met1388Ile) c.3162G>T (p.Met1054Ile) c.743G>T c.680G>T n.2700G>T c.4266G>T (p.Met1422Ile) c.4218G>T (p.Met1406Ile) c.4194G>T (p.Met1398Ile) c.4254G>T (p.Met1418Ile) | ClinVar dbSNP |
| 17 | g.31258397_31258398delinsGT | CA2255573448 | NF1 | c.15_16delinsGT (p.Met5=) c.4209_4210delinsGT (p.Met1403=) n.333_334delinsGT c.218_219delinsGT n.872_873delinsGT c.4257_4258delinsGT (p.Met1419=) n.199_200delinsGT c.4227_4228delinsGT (p.Met1409=) c.4164_4165delinsGT (p.Met1388=) c.3162_3163delinsGT (p.Met1054=) c.743_744delinsGT c.680_681delinsGT n.2700_2701delinsGT c.4266_4267delinsGT (p.Met1422=) c.4218_4219delinsGT (p.Met1406=) c.4194_4195delinsGT (p.Met1398=) c.4254_4255delinsGT (p.Met1418=) | |
| 17 | g.31258398T>A | CA398997806 | NF1 | c.16T>A (p.Phe6Ile) c.4210T>A (p.Phe1404Ile) n.334T>A c.219T>A n.873T>A c.4258T>A (p.Phe1420Ile) n.200T>A c.4228T>A (p.Phe1410Ile) c.4165T>A (p.Phe1389Ile) c.3163T>A (p.Phe1055Ile) c.744T>A c.681T>A n.2701T>A c.4267T>A (p.Phe1423Ile) c.4219T>A (p.Phe1407Ile) c.4195T>A (p.Phe1399Ile) c.4255T>A (p.Phe1419Ile) | ClinVar dbSNP |
| 17 | g.31258398T>C | CA398997808 | NF1 | c.16T>C (p.Phe6Leu) c.4210T>C (p.Phe1404Leu) n.334T>C c.219T>C n.873T>C c.4258T>C (p.Phe1420Leu) n.200T>C c.4228T>C (p.Phe1410Leu) c.4165T>C (p.Phe1389Leu) c.3163T>C (p.Phe1055Leu) c.744T>C c.681T>C n.2701T>C c.4267T>C (p.Phe1423Leu) c.4219T>C (p.Phe1407Leu) c.4195T>C (p.Phe1399Leu) c.4255T>C (p.Phe1419Leu) | |
| 17 | g.31258398T>G | CA398997810 | NF1 | c.16T>G (p.Phe6Val) c.4210T>G (p.Phe1404Val) n.334T>G c.219T>G n.873T>G c.4258T>G (p.Phe1420Val) n.200T>G c.4228T>G (p.Phe1410Val) c.4165T>G (p.Phe1389Val) c.3163T>G (p.Phe1055Val) c.744T>G c.681T>G n.2701T>G c.4267T>G (p.Phe1423Val) c.4219T>G (p.Phe1407Val) c.4195T>G (p.Phe1399Val) c.4255T>G (p.Phe1419Val) | ClinVar dbSNP |
| 17 | g.31258399del | CA658658571 | NF1 | c.17del (p.Phe6SerfsTer18) c.4211del (p.Phe1404SerfsTer18) n.335del c.220del n.874del c.4259del (p.Phe1420SerfsTer18) n.201del c.4229del (p.Phe1410SerfsTer18) c.4166del (p.Phe1389SerfsTer18) c.3164del (p.Phe1055SerfsTer18) c.745del c.682del n.2702del c.4268del (p.Phe1423SerfsTer18) c.4220del (p.Phe1407SerfsTer18) c.4196del (p.Phe1399SerfsTer18) c.4256del (p.Phe1419SerfsTer18) | ClinVar dbSNP |
| 17 | g.31258399T>A | CA398997820 | NF1 | c.17T>A (p.Phe6Tyr) c.4211T>A (p.Phe1404Tyr) n.335T>A c.220T>A n.874T>A c.4259T>A (p.Phe1420Tyr) n.201T>A c.4229T>A (p.Phe1410Tyr) c.4166T>A (p.Phe1389Tyr) c.3164T>A (p.Phe1055Tyr) c.745T>A c.682T>A n.2702T>A c.4268T>A (p.Phe1423Tyr) c.4220T>A (p.Phe1407Tyr) c.4196T>A (p.Phe1399Tyr) c.4256T>A (p.Phe1419Tyr) | |
| 17 | g.31258399T>C | CA398997817 | NF1 | c.17T>C (p.Phe6Ser) c.4211T>C (p.Phe1404Ser) n.335T>C c.220T>C n.874T>C c.4259T>C (p.Phe1420Ser) n.201T>C c.4229T>C (p.Phe1410Ser) c.4166T>C (p.Phe1389Ser) c.3164T>C (p.Phe1055Ser) c.745T>C c.682T>C n.2702T>C c.4268T>C (p.Phe1423Ser) c.4220T>C (p.Phe1407Ser) c.4196T>C (p.Phe1399Ser) c.4256T>C (p.Phe1419Ser) |