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 |
|---|---|---|---|---|---|
| X | g.149482805C>A | CA414517740 | IDS | c.1594G>T (p.Asp532Tyr) c.961G>T (p.Asp321Tyr) c.1324G>T (p.Asp442Tyr) | |
| X | g.149482805C= | CA2465003940 | IDS | c.1594G= (p.Asp532=) c.961G= (p.Asp321=) c.1324G= (p.Asp442=) | |
| X | g.149482805C>G | CA414517738 | IDS | c.1594G>C (p.Asp532His) c.961G>C (p.Asp321His) c.1324G>C (p.Asp442His) | |
| X | g.149482805C>T | CA414517739 | IDS | c.1594G>A (p.Asp532Asn) c.961G>A (p.Asp321Asn) c.1324G>A (p.Asp442Asn) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.149482806C>A | CA414517741 | IDS | c.1593G>T (p.Gln531His) c.960G>T (p.Gln320His) c.1323G>T (p.Gln441His) | |
| X | g.149482806C>G | CA414517742 | IDS | c.1593G>C (p.Gln531His) c.960G>C (p.Gln320His) c.1323G>C (p.Gln441His) | |
| X | g.149482806C>T | CA519057393 | IDS | c.1593G>A (p.Gln531=) c.960G>A (p.Gln320=) c.1323G>A (p.Gln441=) | |
| X | g.149482807T>A | CA414517743 | IDS | c.1592A>T (p.Gln531Leu) c.959A>T (p.Gln320Leu) c.1322A>T (p.Gln441Leu) | |
| X | g.149482807T>C | CA414517744 | IDS | c.1592A>G (p.Gln531Arg) c.959A>G (p.Gln320Arg) c.1322A>G (p.Gln441Arg) | |
| X | g.149482807T>G | CA414517745 | IDS | c.1592A>C (p.Gln531Pro) c.959A>C (p.Gln320Pro) c.1322A>C (p.Gln441Pro) | gnomAD v4 |
| X | g.149482808G>A | CA10604994 | IDS | c.1591C>T (p.Gln531Ter) c.958C>T (p.Gln320Ter) c.1321C>T (p.Gln441Ter) | ClinVar dbSNP |
| X | g.149482808G>C | CA414517746 | IDS | c.1591C>G (p.Gln531Glu) c.958C>G (p.Gln320Glu) c.1321C>G (p.Gln441Glu) | |
| X | g.149482808G= | CA2465003941 | IDS | c.1591C= (p.Gln531=) c.958C= (p.Gln320=) c.1321C= (p.Gln441=) | |
| X | g.149482808G>T | CA414517747 | IDS | c.1591C>A (p.Gln531Lys) c.958C>A (p.Gln320Lys) c.1321C>A (p.Gln441Lys) | |
| X | g.149482809C>A | CA414517748 | IDS | c.1590G>T (p.Leu530Phe) c.957G>T (p.Leu319Phe) c.1320G>T (p.Leu440Phe) | |
| X | g.149482809C>G | CA414517749 | IDS | c.1590G>C (p.Leu530Phe) c.957G>C (p.Leu319Phe) c.1320G>C (p.Leu440Phe) | |
| X | g.149482809C>T | CA519057394 | IDS | c.1590G>A (p.Leu530=) c.957G>A (p.Leu319=) c.1320G>A (p.Leu440=) | |
| X | g.149482810A>C | CA414517751 | IDS | c.1589T>G (p.Leu530Trp) c.956T>G (p.Leu319Trp) c.1319T>G (p.Leu440Trp) | gnomAD v4 |
| X | g.149482810A>G | CA414517752 | IDS | c.1589T>C (p.Leu530Ser) c.956T>C (p.Leu319Ser) c.1319T>C (p.Leu440Ser) | |
| X | g.149482810A>T | CA414517750 | IDS | c.1589T>A (p.Leu530Ter) c.956T>A (p.Leu319Ter) c.1319T>A (p.Leu440Ter) | ClinVar dbSNP |
| X | g.149482811dup | CA2573159286 | IDS | c.1589dup (p.Leu530PhefsTer8) c.956dup (p.Leu319PhefsTer8) c.1319dup (p.Leu440PhefsTer8) | ClinVar dbSNP |
| X | g.149482811A= | CA2465003942 | IDS | c.1588T= (p.Leu530=) c.955T= (p.Leu319=) c.1318T= (p.Leu440=) | |
| X | g.149482811A>C | CA414517753 | IDS | c.1588T>G (p.Leu530Val) c.955T>G (p.Leu319Val) c.1318T>G (p.Leu440Val) | |
| X | g.149482811A>G | CA519057396 | IDS | c.1588T>C (p.Leu530=) c.955T>C (p.Leu319=) c.1318T>C (p.Leu440=) | ClinVar dbSNP gnomAD v4 |
| X | g.149482811A>T | CA414517754 | IDS | c.1588T>A (p.Leu530Met) c.955T>A (p.Leu319Met) c.1318T>A (p.Leu440Met) | gnomAD v4 |
| X | g.149482812del | CA2695236476 | IDS | c.1587del (p.Leu530CysfsTer19) c.954del (p.Leu319CysfsTer19) c.1317del (p.Leu440CysfsTer19) | |
| X | g.149482812T>A | CA519057399 | IDS | c.1587A>T (p.Pro529=) c.954A>T (p.Pro318=) c.1317A>T (p.Pro439=) | |
| X | g.149482812T>C | CA519057397 | IDS | c.1587A>G (p.Pro529=) c.954A>G (p.Pro318=) c.1317A>G (p.Pro439=) | ClinVar dbSNP gnomAD v4 |
| X | g.149482812T>G | CA519057398 | IDS | c.1587A>C (p.Pro529=) c.954A>C (p.Pro318=) c.1317A>C (p.Pro439=) | |
| X | g.149482812T= | CA2465003943 | IDS | c.1587A= (p.Pro529=) c.954A= (p.Pro318=) c.1317A= (p.Pro439=) | |
| X | g.149482813G>A | CA414517755 | IDS | c.1586C>T (p.Pro529Leu) c.953C>T (p.Pro318Leu) c.1316C>T (p.Pro439Leu) | |
| X | g.149482813G>C | CA414517756 | IDS | c.1586C>G (p.Pro529Arg) c.953C>G (p.Pro318Arg) c.1316C>G (p.Pro439Arg) | |
| X | g.149482813G>T | CA414517757 | IDS | c.1586C>A (p.Pro529Gln) c.953C>A (p.Pro318Gln) c.1316C>A (p.Pro439Gln) | |
| X | g.149482814G>A | CA414517760 | IDS | c.1585C>T (p.Pro529Ser) c.952C>T (p.Pro318Ser) c.1315C>T (p.Pro439Ser) | dbSNP |
| X | g.149482814G>C | CA414517758 | IDS | c.1585C>G (p.Pro529Ala) c.952C>G (p.Pro318Ala) c.1315C>G (p.Pro439Ala) | |
| X | g.149482814G= | CA2465003944 | IDS | c.1585C= (p.Pro529=) c.952C= (p.Pro318=) c.1315C= (p.Pro439=) | |
| X | g.149482814G>T | CA414517759 | IDS | c.1585C>A (p.Pro529Thr) c.952C>A (p.Pro318Thr) c.1315C>A (p.Pro439Thr) | |
| X | g.149482815G>A | CA519057400 | IDS | c.1584C>T (p.Asp528=) c.951C>T (p.Asp317=) c.1314C>T (p.Asp438=) | ClinVar dbSNP gnomAD v4 |
| X | g.149482815G>C | CA414517761 | IDS | c.1584C>G (p.Asp528Glu) c.951C>G (p.Asp317Glu) c.1314C>G (p.Asp438Glu) | |
| X | g.149482815G>T | CA414517763 | IDS | c.1584C>A (p.Asp528Glu) c.951C>A (p.Asp317Glu) c.1314C>A (p.Asp438Glu) | |
| X | g.149482816T>A | CA414517764 | IDS | c.1583A>T (p.Asp528Val) c.950A>T (p.Asp317Val) c.1313A>T (p.Asp438Val) | |
| X | g.149482816T>C | CA414517765 | IDS | c.1583A>G (p.Asp528Gly) c.950A>G (p.Asp317Gly) c.1313A>G (p.Asp438Gly) | |
| X | g.149482816T>G | CA414517766 | IDS | c.1583A>C (p.Asp528Ala) c.950A>C (p.Asp317Ala) c.1313A>C (p.Asp438Ala) | |
| X | g.149482817C>A | CA414517767 | IDS | c.1582G>T (p.Asp528Tyr) c.949G>T (p.Asp317Tyr) c.1312G>T (p.Asp438Tyr) | |
| X | g.149482817C>G | CA414517769 | IDS | c.1582G>C (p.Asp528His) c.949G>C (p.Asp317His) c.1312G>C (p.Asp438His) | |
| X | g.149482817C>T | CA414517768 | IDS | c.1582G>A (p.Asp528Asn) c.949G>A (p.Asp317Asn) c.1312G>A (p.Asp438Asn) | |
| X | g.149482818A>C | CA519057401 | IDS | c.1581T>G (p.Ser527=) c.948T>G (p.Ser316=) c.1311T>G (p.Ser437=) | |
| X | g.149482818A>G | CA519057402 | IDS | c.1581T>C (p.Ser527=) c.948T>C (p.Ser316=) c.1311T>C (p.Ser437=) | |
| X | g.149482818A>T | CA519057403 | IDS | c.1581T>A (p.Ser527=) c.948T>A (p.Ser316=) c.1311T>A (p.Ser437=) | |
| X | g.149482819_149482832dup | CA2695236477 | IDS | c.1568_1581dup (p.Asp528IlefsTer26) c.935_948dup (p.Asp317IlefsTer26) c.1298_1311dup (p.Asp438IlefsTer26) | |
| X | g.149482819G>A | CA414517770 | IDS | c.1580C>T (p.Ser527Phe) c.947C>T (p.Ser316Phe) c.1310C>T (p.Ser437Phe) | gnomAD v4 |
| X | g.149482819G>C | CA414517771 | IDS | c.1580C>G (p.Ser527Cys) c.947C>G (p.Ser316Cys) c.1310C>G (p.Ser437Cys) | |
| X | g.149482819G>T | CA414517772 | IDS | c.1580C>A (p.Ser527Tyr) c.947C>A (p.Ser316Tyr) c.1310C>A (p.Ser437Tyr) | |
| X | g.149482820A>C | CA414517773 | IDS | c.1579T>G (p.Ser527Ala) c.946T>G (p.Ser316Ala) c.1309T>G (p.Ser437Ala) | |
| X | g.149482820A>G | CA414517774 | IDS | c.1579T>C (p.Ser527Pro) c.946T>C (p.Ser316Pro) c.1309T>C (p.Ser437Pro) | |
| X | g.149482820A>T | CA414517775 | IDS | c.1579T>A (p.Ser527Thr) c.946T>A (p.Ser316Thr) c.1309T>A (p.Ser437Thr) | |
| X | g.149482821A>C | CA414517776 | IDS | c.1578T>G (p.Asp526Glu) c.945T>G (p.Asp315Glu) c.1308T>G (p.Asp436Glu) | |
| X | g.149482821A>G | CA519057404 | IDS | c.1578T>C (p.Asp526=) c.945T>C (p.Asp315=) c.1308T>C (p.Asp436=) | |
| X | g.149482821A>T | CA414517777 | IDS | c.1578T>A (p.Asp526Glu) c.945T>A (p.Asp315Glu) c.1308T>A (p.Asp436Glu) | |
| X | g.149482822T>A | CA414517778 | IDS | c.1577A>T (p.Asp526Val) c.944A>T (p.Asp315Val) c.1307A>T (p.Asp436Val) | |
| X | g.149482822T>C | CA414517779 | IDS | c.1577A>G (p.Asp526Gly) c.944A>G (p.Asp315Gly) c.1307A>G (p.Asp436Gly) | |
| X | g.149482822T>G | CA414517780 | IDS | c.1577A>C (p.Asp526Ala) c.944A>C (p.Asp315Ala) c.1307A>C (p.Asp436Ala) | |
| X | g.149482823C>A | CA10537431 | IDS | c.1576G>T (p.Asp526Tyr) c.943G>T (p.Asp315Tyr) c.1306G>T (p.Asp436Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482823C= | CA2465003945 | IDS | c.1576G= (p.Asp526=) c.943G= (p.Asp315=) c.1306G= (p.Asp436=) | |
| X | g.149482823C>G | CA414517782 | IDS | c.1576G>C (p.Asp526His) c.943G>C (p.Asp315His) c.1306G>C (p.Asp436His) | |
| X | g.149482823C>T | CA414517781 | IDS | c.1576G>A (p.Asp526Asn) c.943G>A (p.Asp315Asn) c.1306G>A (p.Asp436Asn) | COSMIC |
| X | g.149482824del | CA2695236478 | IDS | c.1576del (p.Asp526IlefsTer23) c.943del (p.Asp315IlefsTer23) c.1306del (p.Asp436IlefsTer23) | |
| X | g.149482824C>A | CA519057405 | IDS | c.1575G>T (p.Val525=) c.942G>T (p.Val314=) c.1305G>T (p.Val435=) | |
| X | g.149482824C>G | CA519057406 | IDS | c.1575G>C (p.Val525=) c.942G>C (p.Val314=) c.1305G>C (p.Val435=) | |
| X | g.149482824C>T | CA519057407 | IDS | c.1575G>A (p.Val525=) c.942G>A (p.Val314=) c.1305G>A (p.Val435=) | |
| X | g.149482825A>C | CA414517785 | IDS | c.1574T>G (p.Val525Gly) c.941T>G (p.Val314Gly) c.1304T>G (p.Val435Gly) | |
| X | g.149482825A>G | CA414517783 | IDS | c.1574T>C (p.Val525Ala) c.941T>C (p.Val314Ala) c.1304T>C (p.Val435Ala) | |
| X | g.149482825A>T | CA414517784 | IDS | c.1574T>A (p.Val525Glu) c.941T>A (p.Val314Glu) c.1304T>A (p.Val435Glu) | |
| X | g.149482826C>A | CA414517786 | IDS | c.1573G>T (p.Val525Leu) c.940G>T (p.Val314Leu) c.1303G>T (p.Val435Leu) | |
| X | g.149482826C>G | CA414517787 | IDS | c.1573G>C (p.Val525Leu) c.940G>C (p.Val314Leu) c.1303G>C (p.Val435Leu) | |
| X | g.149482826C>T | CA414517788 | IDS | c.1573G>A (p.Val525Met) c.940G>A (p.Val314Met) c.1303G>A (p.Val435Met) | |
| X | g.149482827A>C | CA414517789 | IDS | c.1572T>G (p.Phe524Leu) c.939T>G (p.Phe313Leu) c.1302T>G (p.Phe434Leu) | |
| X | g.149482827A>G | CA519057408 | IDS | c.1572T>C (p.Phe524=) c.939T>C (p.Phe313=) c.1302T>C (p.Phe434=) | |
| X | g.149482827A>T | CA414517790 | IDS | c.1572T>A (p.Phe524Leu) c.939T>A (p.Phe313Leu) c.1302T>A (p.Phe434Leu) | |
| X | g.149482828A= | CA2465003946 | IDS | c.1571T= (p.Phe524=) c.938T= (p.Phe313=) c.1301T= (p.Phe434=) | |
| X | g.149482828A>C | CA414517791 | IDS | c.1571T>G (p.Phe524Cys) c.938T>G (p.Phe313Cys) c.1301T>G (p.Phe434Cys) | |
| X | g.149482828A>G | CA414517792 | IDS | c.1571T>C (p.Phe524Ser) c.938T>C (p.Phe313Ser) c.1301T>C (p.Phe434Ser) | |
| X | g.149482828A>T | CA337035521 | IDS | c.1571T>A (p.Phe524Tyr) c.938T>A (p.Phe313Tyr) c.1301T>A (p.Phe434Tyr) | dbSNP |
| X | g.149482829A>C | CA414517793 | IDS | c.1570T>G (p.Phe524Val) c.937T>G (p.Phe313Val) c.1300T>G (p.Phe434Val) | |
| X | g.149482829A>G | CA414517794 | IDS | c.1570T>C (p.Phe524Leu) c.937T>C (p.Phe313Leu) c.1300T>C (p.Phe434Leu) | |
| X | g.149482829A>T | CA414517795 | IDS | c.1570T>A (p.Phe524Ile) c.937T>A (p.Phe313Ile) c.1300T>A (p.Phe434Ile) | |
| X | g.149482830A>C | CA414517797 | IDS | c.1569T>G (p.Tyr523Ter) c.936T>G (p.Tyr312Ter) c.1299T>G (p.Tyr433Ter) | |
| X | g.149482830A>G | CA519057409 | IDS | c.1569T>C (p.Tyr523=) c.936T>C (p.Tyr312=) c.1299T>C (p.Tyr433=) | |
| X | g.149482830A>T | CA414517796 | IDS | c.1569T>A (p.Tyr523Ter) c.936T>A (p.Tyr312Ter) c.1299T>A (p.Tyr433Ter) | |
| X | g.149482831T>A | CA414517798 | IDS | c.1568A>T (p.Tyr523Phe) c.935A>T (p.Tyr312Phe) c.1298A>T (p.Tyr433Phe) | |
| X | g.149482831T>C | CA414517799 | IDS | c.1568A>G (p.Tyr523Cys) c.935A>G (p.Tyr312Cys) c.1298A>G (p.Tyr433Cys) | ClinVar dbSNP |
| X | g.149482831T>G | CA414517800 | IDS | c.1568A>C (p.Tyr523Ser) c.935A>C (p.Tyr312Ser) c.1298A>C (p.Tyr433Ser) | |
| X | g.149482831T= | CA2465003947 | IDS | c.1568A= (p.Tyr523=) c.935A= (p.Tyr312=) c.1298A= (p.Tyr433=) | |
| X | g.149482832A>C | CA414517801 | IDS | c.1567T>G (p.Tyr523Asp) c.934T>G (p.Tyr312Asp) c.1297T>G (p.Tyr433Asp) | |
| X | g.149482832A>G | CA414517802 | IDS | c.1567T>C (p.Tyr523His) c.934T>C (p.Tyr312His) c.1297T>C (p.Tyr433His) | |
| X | g.149482832A>T | CA414517803 | IDS | c.1567T>A (p.Tyr523Asn) c.934T>A (p.Tyr312Asn) c.1297T>A (p.Tyr433Asn) | |
| X | g.149482832dup | CA2695236479 | IDS | c.1567dup (p.Tyr523LeufsTer6) c.934dup (p.Tyr312LeufsTer6) c.1297dup (p.Tyr433LeufsTer6) | |
| X | g.149482833C>A | CA519057414 | IDS | c.1566G>T (p.Leu522=) c.933G>T (p.Leu311=) c.1296G>T (p.Leu432=) | |
| X | g.149482833C>G | CA519057413 | IDS | c.1566G>C (p.Leu522=) c.933G>C (p.Leu311=) c.1296G>C (p.Leu432=) | |
| X | g.149482833C>T | CA519057411 | IDS | c.1566G>A (p.Leu522=) c.933G>A (p.Leu311=) c.1296G>A (p.Leu432=) | gnomAD v4 |
| X | g.149482834A>C | CA414517804 | IDS | c.1565T>G (p.Leu522Arg) c.932T>G (p.Leu311Arg) c.1295T>G (p.Leu432Arg) | |
| X | g.149482834A>G | CA414517805 | IDS | c.1565T>C (p.Leu522Pro) c.932T>C (p.Leu311Pro) c.1295T>C (p.Leu432Pro) | |
| X | g.149482834A>T | CA414517806 | IDS | c.1565T>A (p.Leu522Gln) c.932T>A (p.Leu311Gln) c.1295T>A (p.Leu432Gln) | |
| X | g.149482835G>A | CA519057415 | IDS | c.1564C>T (p.Leu522=) c.931C>T (p.Leu311=) c.1294C>T (p.Leu432=) | ClinVar dbSNP gnomAD v4 |
| X | g.149482835G>C | CA414517807 | IDS | c.1564C>G (p.Leu522Val) c.931C>G (p.Leu311Val) c.1294C>G (p.Leu432Val) | gnomAD v4 |
| X | g.149482835G>T | CA414517808 | IDS | c.1564C>A (p.Leu522Met) c.931C>A (p.Leu311Met) c.1294C>A (p.Leu432Met) | |
| X | g.149482836T>A | CA414517809 | IDS | c.1563A>T (p.Glu521Asp) c.930A>T (p.Glu310Asp) c.1293A>T (p.Glu431Asp) | ClinVar dbSNP |
| X | g.149482836T>C | CA519057416 | IDS | c.1563A>G (p.Glu521=) c.930A>G (p.Glu310=) c.1293A>G (p.Glu431=) | |
| X | g.149482836T>G | CA414517810 | IDS | c.1563A>C (p.Glu521Asp) c.930A>C (p.Glu310Asp) c.1293A>C (p.Glu431Asp) | |
| X | g.149482836T= | CA2465003948 | IDS | c.1563A= (p.Glu521=) c.930A= (p.Glu310=) c.1293A= (p.Glu431=) | |
| X | g.149482837del | CA2695236480 | IDS | c.1563del (p.Glu521AspfsTer28) c.930del (p.Glu310AspfsTer28) c.1293del (p.Glu431AspfsTer28) | |
| X | g.149482837T>A | CA414517813 | IDS | c.1562A>T (p.Glu521Val) c.929A>T (p.Glu310Val) c.1292A>T (p.Glu431Val) | |
| X | g.149482837T>C | CA414517812 | IDS | c.1562A>G (p.Glu521Gly) c.929A>G (p.Glu310Gly) c.1292A>G (p.Glu431Gly) | |
| X | g.149482837T>G | CA414517811 | IDS | c.1562A>C (p.Glu521Ala) c.929A>C (p.Glu310Ala) c.1292A>C (p.Glu431Ala) | |
| X | g.149482838C>A | CA414517814 | IDS | c.1561G>T (p.Glu521Ter) c.928G>T (p.Glu310Ter) c.1291G>T (p.Glu431Ter) | |
| X | g.149482838C>G | CA414517815 | IDS | c.1561G>C (p.Glu521Gln) c.928G>C (p.Glu310Gln) c.1291G>C (p.Glu431Gln) | |
| X | g.149482838C>T | CA414517816 | IDS | c.1561G>A (p.Glu521Lys) c.928G>A (p.Glu310Lys) c.1291G>A (p.Glu431Lys) | ClinVar dbSNP COSMIC |
| X | g.149482841dup | CA2573159287 | IDS | c.1561dup (p.Glu521GlyfsTer8) c.928dup (p.Glu310GlyfsTer8) c.1291dup (p.Glu431GlyfsTer8) | ClinVar dbSNP |
| X | g.149482841del | CA2739289610 | IDS | c.1561del (p.Glu521AsnfsTer28) c.928del (p.Glu310AsnfsTer28) c.1291del (p.Glu431AsnfsTer28) | |
| X | g.149482839C>A | CA519057417 | IDS | c.1560G>T (p.Gly520=) c.927G>T (p.Gly309=) c.1290G>T (p.Gly430=) | |
| X | g.149482839C= | CA2465003949 | IDS | c.1560G= (p.Gly520=) c.927G= (p.Gly309=) c.1290G= (p.Gly430=) | |
| X | g.149482839C>G | CA519057418 | IDS | c.1560G>C (p.Gly520=) c.927G>C (p.Gly309=) c.1290G>C (p.Gly430=) | |
| X | g.149482839C>T | CA10537432 | IDS | c.1560G>A (p.Gly520=) c.927G>A (p.Gly309=) c.1290G>A (p.Gly430=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149482840C>A | CA414517817 | IDS | c.1559G>T (p.Gly520Val) c.926G>T (p.Gly309Val) c.1289G>T (p.Gly430Val) | |
| X | g.149482840C>G | CA414517818 | IDS | c.1559G>C (p.Gly520Ala) c.926G>C (p.Gly309Ala) c.1289G>C (p.Gly430Ala) | |
| X | g.149482840C>T | CA414517819 | IDS | c.1559G>A (p.Gly520Glu) c.926G>A (p.Gly309Glu) c.1289G>A (p.Gly430Glu) | |
| X | g.149482841C>A | CA414517820 | IDS | c.1558G>T (p.Gly520Trp) c.925G>T (p.Gly309Trp) c.1288G>T (p.Gly430Trp) | |
| X | g.149482841C>G | CA414517821 | IDS | c.1558G>C (p.Gly520Arg) c.925G>C (p.Gly309Arg) c.1288G>C (p.Gly430Arg) | |
| X | g.149482841C>T | CA414517822 | IDS | c.1558G>A (p.Gly520Arg) c.925G>A (p.Gly309Arg) c.1288G>A (p.Gly430Arg) | |
| X | g.149482842T>A | CA519057419 | IDS | c.1557A>T (p.Ala519=) c.924A>T (p.Ala308=) c.1287A>T (p.Ala429=) | |
| X | g.149482842T>C | CA519057420 | IDS | c.1557A>G (p.Ala519=) c.924A>G (p.Ala308=) c.1287A>G (p.Ala429=) | |
| X | g.149482842T>G | CA519057421 | IDS | c.1557A>C (p.Ala519=) c.924A>C (p.Ala308=) c.1287A>C (p.Ala429=) | |
| X | g.149482843G>A | CA414517823 | IDS | c.1556C>T (p.Ala519Val) c.923C>T (p.Ala308Val) c.1286C>T (p.Ala429Val) | |
| X | g.149482843G>C | CA414517824 | IDS | c.1556C>G (p.Ala519Gly) c.923C>G (p.Ala308Gly) c.1286C>G (p.Ala429Gly) | |
| X | g.149482843G>T | CA414517825 | IDS | c.1556C>A (p.Ala519Glu) c.923C>A (p.Ala308Glu) c.1286C>A (p.Ala429Glu) | |
| X | g.149482844C>A | CA414517828 | IDS | c.1555G>T (p.Ala519Ser) c.922G>T (p.Ala308Ser) c.1285G>T (p.Ala429Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.149482844C= | CA2465003950 | IDS | c.1555G= (p.Ala519=) c.922G= (p.Ala308=) c.1285G= (p.Ala429=) | |
| X | g.149482844C>G | CA414517826 | IDS | c.1555G>C (p.Ala519Pro) c.922G>C (p.Ala308Pro) c.1285G>C (p.Ala429Pro) | |
| X | g.149482844C>T | CA414517827 | IDS | c.1555G>A (p.Ala519Thr) c.922G>A (p.Ala308Thr) c.1285G>A (p.Ala429Thr) | |
| X | g.149482845A>C | CA414517829 | IDS | c.1554T>G (p.His518Gln) c.921T>G (p.His307Gln) c.1284T>G (p.His428Gln) | |
| X | g.149482845A>G | CA519057423 | IDS | c.1554T>C (p.His518=) c.921T>C (p.His307=) c.1284T>C (p.His428=) | |
| X | g.149482845A>T | CA414517830 | IDS | c.1554T>A (p.His518Gln) c.921T>A (p.His307Gln) c.1284T>A (p.His428Gln) | |
| X | g.149482846T>A | CA414517832 | IDS | c.1553A>T (p.His518Leu) c.920A>T (p.His307Leu) c.1283A>T (p.His428Leu) | |
| X | g.149482846T>C | CA414517834 | IDS | c.1553A>G (p.His518Arg) c.920A>G (p.His307Arg) c.1283A>G (p.His428Arg) | |
| X | g.149482846T>G | CA414517835 | IDS | c.1553A>C (p.His518Pro) c.920A>C (p.His307Pro) c.1283A>C (p.His428Pro) | |
| X | g.149482847G>A | CA414517836 | IDS | c.1552C>T (p.His518Tyr) c.919C>T (p.His307Tyr) c.1282C>T (p.His428Tyr) | |
| X | g.149482847G>C | CA10537433 | IDS | c.1552C>G (p.His518Asp) c.919C>G (p.His307Asp) c.1282C>G (p.His428Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482847G= | CA2465003951 | IDS | c.1552C= (p.His518=) c.919C= (p.His307=) c.1282C= (p.His428=) | |
| X | g.149482847G>T | CA414517837 | IDS | c.1552C>A (p.His518Asn) c.919C>A (p.His307Asn) c.1282C>A (p.His428Asn) | |
| X | g.149482848G>A | CA519057426 | IDS | c.1551C>T (p.Ile517=) c.918C>T (p.Ile306=) c.1281C>T (p.Ile427=) | |
| X | g.149482848G>C | CA414517838 | IDS | c.1551C>G (p.Ile517Met) c.918C>G (p.Ile306Met) c.1281C>G (p.Ile427Met) | |
| X | g.149482848G>T | CA519057424 | IDS | c.1551C>A (p.Ile517=) c.918C>A (p.Ile306=) c.1281C>A (p.Ile427=) | |
| X | g.149482849A>C | CA414517839 | IDS | c.1550T>G (p.Ile517Ser) c.917T>G (p.Ile306Ser) c.1280T>G (p.Ile427Ser) | |
| X | g.149482849A>G | CA414517840 | IDS | c.1550T>C (p.Ile517Thr) c.917T>C (p.Ile306Thr) c.1280T>C (p.Ile427Thr) | |
| X | g.149482849A>T | CA414517841 | IDS | c.1550T>A (p.Ile517Asn) c.917T>A (p.Ile306Asn) c.1280T>A (p.Ile427Asn) | |
| X | g.149482850T>A | CA414517844 | IDS | c.1549A>T (p.Ile517Phe) c.916A>T (p.Ile306Phe) c.1279A>T (p.Ile427Phe) | |
| X | g.149482850T>C | CA414517843 | IDS | c.1549A>G (p.Ile517Val) c.916A>G (p.Ile306Val) c.1279A>G (p.Ile427Val) | dbSNP |
| X | g.149482850T>G | CA414517842 | IDS | c.1549A>C (p.Ile517Leu) c.916A>C (p.Ile306Leu) c.1279A>C (p.Ile427Leu) | |
| X | g.149482850T= | CA2465003952 | IDS | c.1549A= (p.Ile517=) c.916A= (p.Ile306=) c.1279A= (p.Ile427=) | |
| X | g.149482851G>A | CA10537434 | IDS | c.1548C>T (p.Asp516=) c.915C>T (p.Asp305=) c.1278C>T (p.Asp426=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482851G>C | CA414517846 | IDS | c.1548C>G (p.Asp516Glu) c.915C>G (p.Asp305Glu) c.1278C>G (p.Asp426Glu) | |
| X | g.149482851G= | CA2465003953 | IDS | c.1548C= (p.Asp516=) c.915C= (p.Asp305=) c.1278C= (p.Asp426=) | |
| X | g.149482851G>T | CA414517845 | IDS | c.1548C>A (p.Asp516Glu) c.915C>A (p.Asp305Glu) c.1278C>A (p.Asp426Glu) | |
| X | g.149482852T>A | CA414517847 | IDS | c.1547A>T (p.Asp516Val) c.914A>T (p.Asp305Val) c.1277A>T (p.Asp426Val) | |
| X | g.149482852T>C | CA414517849 | IDS | c.1547A>G (p.Asp516Gly) c.914A>G (p.Asp305Gly) c.1277A>G (p.Asp426Gly) | |
| X | g.149482852T>G | CA414517848 | IDS | c.1547A>C (p.Asp516Ala) c.914A>C (p.Asp305Ala) c.1277A>C (p.Asp426Ala) | |
| X | g.149482853C>A | CA414517850 | IDS | c.1546G>T (p.Asp516Tyr) c.913G>T (p.Asp305Tyr) c.1276G>T (p.Asp426Tyr) | |
| X | g.149482853C>G | CA414517852 | IDS | c.1546G>C (p.Asp516His) c.913G>C (p.Asp305His) c.1276G>C (p.Asp426His) | |
| X | g.149482853C>T | CA414517851 | IDS | c.1546G>A (p.Asp516Asn) c.913G>A (p.Asp305Asn) c.1276G>A (p.Asp426Asn) | |
| X | g.149482854A>C | CA519057427 | IDS | c.1545T>G (p.Ser515=) c.912T>G (p.Ser304=) c.1275T>G (p.Ser425=) | |
| X | g.149482854A>G | CA519057428 | IDS | c.1545T>C (p.Ser515=) c.912T>C (p.Ser304=) c.1275T>C (p.Ser425=) | |
| X | g.149482854A>T | CA519057429 | IDS | c.1545T>A (p.Ser515=) c.912T>A (p.Ser304=) c.1275T>A (p.Ser425=) | |
| X | g.149482855G>A | CA414517853 | IDS | c.1544C>T (p.Ser515Phe) c.911C>T (p.Ser304Phe) c.1274C>T (p.Ser425Phe) | |
| X | g.149482855G>C | CA414517854 | IDS | c.1544C>G (p.Ser515Cys) c.911C>G (p.Ser304Cys) c.1274C>G (p.Ser425Cys) | |
| X | g.149482855G>T | CA414517855 | IDS | c.1544C>A (p.Ser515Tyr) c.911C>A (p.Ser304Tyr) c.1274C>A (p.Ser425Tyr) | gnomAD v4 |
| X | g.149482856A>C | CA414517856 | IDS | c.1543T>G (p.Ser515Ala) c.910T>G (p.Ser304Ala) c.1273T>G (p.Ser425Ala) | |
| X | g.149482856A>G | CA414517857 | IDS | c.1543T>C (p.Ser515Pro) c.910T>C (p.Ser304Pro) c.1273T>C (p.Ser425Pro) | |
| X | g.149482856A>T | CA414517858 | IDS | c.1543T>A (p.Ser515Thr) c.910T>A (p.Ser304Thr) c.1273T>A (p.Ser425Thr) | |
| X | g.149482857A>C | CA414517859 | IDS | c.1542T>G (p.Phe514Leu) c.909T>G (p.Phe303Leu) c.1272T>G (p.Phe424Leu) | |
| X | g.149482857A>G | CA519057430 | IDS | c.1542T>C (p.Phe514=) c.909T>C (p.Phe303=) c.1272T>C (p.Phe424=) | |
| X | g.149482857A>T | CA414517860 | IDS | c.1542T>A (p.Phe514Leu) c.909T>A (p.Phe303Leu) c.1272T>A (p.Phe424Leu) | |
| X | g.149482858A>C | CA414517861 | IDS | c.1541T>G (p.Phe514Cys) c.908T>G (p.Phe303Cys) c.1271T>G (p.Phe424Cys) | |
| X | g.149482858A>G | CA414517862 | IDS | c.1541T>C (p.Phe514Ser) c.908T>C (p.Phe303Ser) c.1271T>C (p.Phe424Ser) | |
| X | g.149482858A>T | CA414517863 | IDS | c.1541T>A (p.Phe514Tyr) c.908T>A (p.Phe303Tyr) c.1271T>A (p.Phe424Tyr) | |
| X | g.149482859A= | CA2465003954 | IDS | c.1540T= (p.Phe514=) c.907T= (p.Phe303=) c.1270T= (p.Phe424=) | |
| X | g.149482859A>C | CA414517864 | IDS | c.1540T>G (p.Phe514Val) c.907T>G (p.Phe303Val) c.1270T>G (p.Phe424Val) | |
| X | g.149482859A>G | CA414517866 | IDS | c.1540T>C (p.Phe514Leu) c.907T>C (p.Phe303Leu) c.1270T>C (p.Phe424Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.149482859A>T | CA414517865 | IDS | c.1540T>A (p.Phe514Ile) c.907T>A (p.Phe303Ile) c.1270T>A (p.Phe424Ile) | gnomAD v4 |
| X | g.149482860G>A | CA519057431 | IDS | c.1539C>T (p.Asn513=) c.906C>T (p.Asn302=) c.1269C>T (p.Asn423=) | ClinVar gnomAD v4 |
| X | g.149482860G>C | CA414517867 | IDS | c.1539C>G (p.Asn513Lys) c.906C>G (p.Asn302Lys) c.1269C>G (p.Asn423Lys) | |
| X | g.149482860G= | CA2465003955 | IDS | c.1539C= (p.Asn513=) c.906C= (p.Asn302=) c.1269C= (p.Asn423=) | |
| X | g.149482860G>T | CA414517868 | IDS | c.1539C>A (p.Asn513Lys) c.906C>A (p.Asn302Lys) c.1269C>A (p.Asn423Lys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.149482861T>A | CA414517869 | IDS | c.1538A>T (p.Asn513Ile) c.905A>T (p.Asn302Ile) c.1268A>T (p.Asn423Ile) | |
| X | g.149482861T>C | CA414517870 | IDS | c.1538A>G (p.Asn513Ser) c.905A>G (p.Asn302Ser) c.1268A>G (p.Asn423Ser) | |
| X | g.149482861T>G | CA414517871 | IDS | c.1538A>C (p.Asn513Thr) c.905A>C (p.Asn302Thr) c.1268A>C (p.Asn423Thr) | COSMIC |
| X | g.149482862T>A | CA414517872 | IDS | c.1537A>T (p.Asn513Tyr) c.904A>T (p.Asn302Tyr) c.1267A>T (p.Asn423Tyr) | |
| X | g.149482862T>C | CA414517873 | IDS | c.1537A>G (p.Asn513Asp) c.904A>G (p.Asn302Asp) c.1267A>G (p.Asn423Asp) | |
| X | g.149482862T>G | CA414517874 | IDS | c.1537A>C (p.Asn513His) c.904A>C (p.Asn302His) c.1267A>C (p.Asn423His) | |
| X | g.149482863A= | CA2465003956 | IDS | c.1536T= (p.Ala512=) c.903T= (p.Ala301=) c.1266T= (p.Ala422=) | |
| X | g.149482863A>C | CA519057432 | IDS | c.1536T>G (p.Ala512=) c.903T>G (p.Ala301=) c.1266T>G (p.Ala422=) | |
| X | g.149482863A>G | CA519057433 | IDS | c.1536T>C (p.Ala512=) c.903T>C (p.Ala301=) c.1266T>C (p.Ala422=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149482863A>T | CA10537435 | IDS | c.1536T>A (p.Ala512=) c.903T>A (p.Ala301=) c.1266T>A (p.Ala422=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149482864G>A | CA414517876 | IDS | c.1535C>T (p.Ala512Val) c.902C>T (p.Ala301Val) c.1265C>T (p.Ala422Val) | |
| X | g.149482864G>C | CA414517877 | IDS | c.1535C>G (p.Ala512Gly) c.902C>G (p.Ala301Gly) c.1265C>G (p.Ala422Gly) | |
| X | g.149482864G>T | CA414517875 | IDS | c.1535C>A (p.Ala512Asp) c.902C>A (p.Ala301Asp) c.1265C>A (p.Ala422Asp) | |
| X | g.149482864_149482874del | CA2694908955 | IDS | c.1525_1535del (p.Glu509Ter) c.892_902del (p.Glu298Ter) c.1255_1265del (p.Glu419Ter) | gnomAD v4 |
| X | g.149482865C>A | CA414517878 | IDS | c.1534G>T (p.Ala512Ser) c.901G>T (p.Ala301Ser) c.1264G>T (p.Ala422Ser) | |
| X | g.149482865C>G | CA414517879 | IDS | c.1534G>C (p.Ala512Pro) c.901G>C (p.Ala301Pro) c.1264G>C (p.Ala422Pro) | gnomAD v4 |
| X | g.149482865C>T | CA414517880 | IDS | c.1534G>A (p.Ala512Thr) c.901G>A (p.Ala301Thr) c.1264G>A (p.Ala422Thr) | gnomAD v4 |
| X | g.149482866T>A | CA519057434 | IDS | c.1533A>T (p.Leu511=) c.900A>T (p.Leu300=) c.1263A>T (p.Leu421=) | |
| X | g.149482866T>C | CA519057435 | IDS | c.1533A>G (p.Leu511=) c.900A>G (p.Leu300=) c.1263A>G (p.Leu421=) | |
| X | g.149482866T>G | CA519057436 | IDS | c.1533A>C (p.Leu511=) c.900A>C (p.Leu300=) c.1263A>C (p.Leu421=) | |
| X | g.149482867A>C | CA414517881 | IDS | c.1532T>G (p.Leu511Arg) c.899T>G (p.Leu300Arg) c.1262T>G (p.Leu421Arg) | |
| X | g.149482867A>G | CA414517882 | IDS | c.1532T>C (p.Leu511Pro) c.899T>C (p.Leu300Pro) c.1262T>C (p.Leu421Pro) | |
| X | g.149482867A>T | CA414517883 | IDS | c.1532T>A (p.Leu511Gln) c.899T>A (p.Leu300Gln) c.1262T>A (p.Leu421Gln) | |
| X | g.149482868G>A | CA10537436 | IDS | c.1531C>T (p.Leu511=) c.898C>T (p.Leu300=) c.1261C>T (p.Leu421=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482868G>C | CA414517884 | IDS | c.1531C>G (p.Leu511Val) c.898C>G (p.Leu300Val) c.1261C>G (p.Leu421Val) | |
| X | g.149482868G= | CA2465003957 | IDS | c.1531C= (p.Leu511=) c.898C= (p.Leu300=) c.1261C= (p.Leu421=) | |
| X | g.149482868G>T | CA414517885 | IDS | c.1531C>A (p.Leu511Ile) c.898C>A (p.Leu300Ile) c.1261C>A (p.Leu421Ile) | |
| X | g.149482869A>C | CA414517886 | IDS | c.1530T>G (p.Phe510Leu) c.897T>G (p.Phe299Leu) c.1260T>G (p.Phe420Leu) | |
| X | g.149482869A>G | CA519057439 | IDS | c.1530T>C (p.Phe510=) c.897T>C (p.Phe299=) c.1260T>C (p.Phe420=) | |
| X | g.149482869A>T | CA414517887 | IDS | c.1530T>A (p.Phe510Leu) c.897T>A (p.Phe299Leu) c.1260T>A (p.Phe420Leu) | |
| X | g.149482870A>C | CA414517890 | IDS | c.1529T>G (p.Phe510Cys) c.896T>G (p.Phe299Cys) c.1259T>G (p.Phe420Cys) | |
| X | g.149482870A>G | CA414517889 | IDS | c.1529T>C (p.Phe510Ser) c.896T>C (p.Phe299Ser) c.1259T>C (p.Phe420Ser) | |
| X | g.149482870A>T | CA414517888 | IDS | c.1529T>A (p.Phe510Tyr) c.896T>A (p.Phe299Tyr) c.1259T>A (p.Phe420Tyr) | |
| X | g.149482871A>C | CA414517891 | IDS | c.1528T>G (p.Phe510Val) c.895T>G (p.Phe299Val) c.1258T>G (p.Phe420Val) | |
| X | g.149482871A>G | CA414517892 | IDS | c.1528T>C (p.Phe510Leu) c.895T>C (p.Phe299Leu) c.1258T>C (p.Phe420Leu) | |
| X | g.149482871A>T | CA414517893 | IDS | c.1528T>A (p.Phe510Ile) c.895T>A (p.Phe299Ile) c.1258T>A (p.Phe420Ile) | |
| X | g.149482872T>A | CA414517894 | IDS | c.1527A>T (p.Glu509Asp) c.894A>T (p.Glu298Asp) c.1257A>T (p.Glu419Asp) | |
| X | g.149482872T>C | CA519057440 | IDS | c.1527A>G (p.Glu509=) c.894A>G (p.Glu298=) c.1257A>G (p.Glu419=) | dbSNP gnomAD v4 |
| X | g.149482872T>G | CA414517895 | IDS | c.1527A>C (p.Glu509Asp) c.894A>C (p.Glu298Asp) c.1257A>C (p.Glu419Asp) | |
| X | g.149482872T= | CA2465003958 | IDS | c.1527A= (p.Glu509=) c.894A= (p.Glu298=) c.1257A= (p.Glu419=) | |
| X | g.149482873T>A | CA414517896 | IDS | c.1526A>T (p.Glu509Val) c.893A>T (p.Glu298Val) c.1256A>T (p.Glu419Val) | |
| X | g.149482873T>C | CA414517897 | IDS | c.1526A>G (p.Glu509Gly) c.893A>G (p.Glu298Gly) c.1256A>G (p.Glu419Gly) | |
| X | g.149482873T>G | CA414517898 | IDS | c.1526A>C (p.Glu509Ala) c.893A>C (p.Glu298Ala) c.1256A>C (p.Glu419Ala) | |
| X | g.149482874C>A | CA414517899 | IDS | c.1525G>T (p.Glu509Ter) c.892G>T (p.Glu298Ter) c.1255G>T (p.Glu419Ter) | |
| X | g.149482874C>G | CA414517900 | IDS | c.1525G>C (p.Glu509Gln) c.892G>C (p.Glu298Gln) c.1255G>C (p.Glu419Gln) | |
| X | g.149482874C>T | CA414517901 | IDS | c.1525G>A (p.Glu509Lys) c.892G>A (p.Glu298Lys) c.1255G>A (p.Glu419Lys) | COSMIC |
| X | g.149482875A>C | CA414517902 | IDS | c.1524T>G (p.Asp508Glu) c.891T>G (p.Asp297Glu) c.1254T>G (p.Asp418Glu) | |
| X | g.149482875A>G | CA519057441 | IDS | c.1524T>C (p.Asp508=) c.891T>C (p.Asp297=) c.1254T>C (p.Asp418=) | |
| X | g.149482875A>T | CA414517903 | IDS | c.1524T>A (p.Asp508Glu) c.891T>A (p.Asp297Glu) c.1254T>A (p.Asp418Glu) | |
| X | g.149482876T>A | CA414517905 | IDS | c.1523A>T (p.Asp508Val) c.890A>T (p.Asp297Val) c.1253A>T (p.Asp418Val) | |
| X | g.149482876T>C | CA414517906 | IDS | c.1523A>G (p.Asp508Gly) c.890A>G (p.Asp297Gly) c.1253A>G (p.Asp418Gly) | |
| X | g.149482876T>G | CA414517904 | IDS | c.1523A>C (p.Asp508Ala) c.890A>C (p.Asp297Ala) c.1253A>C (p.Asp418Ala) | |
| X | g.149482877C>A | CA414517909 | IDS | c.1522G>T (p.Asp508Tyr) c.889G>T (p.Asp297Tyr) c.1252G>T (p.Asp418Tyr) | |
| X | g.149482877C>G | CA414517907 | IDS | c.1522G>C (p.Asp508His) c.889G>C (p.Asp297His) c.1252G>C (p.Asp418His) | |
| X | g.149482877C>T | CA414517908 | IDS | c.1522G>A (p.Asp508Asn) c.889G>A (p.Asp297Asn) c.1252G>A (p.Asp418Asn) | |
| X | g.149482878A>C | CA519057442 | IDS | c.1521T>G (p.Pro507=) c.888T>G (p.Pro296=) c.1251T>G (p.Pro417=) | |
| X | g.149482878A>G | CA519057443 | IDS | c.1521T>C (p.Pro507=) c.888T>C (p.Pro296=) c.1251T>C (p.Pro417=) | |
| X | g.149482878A>T | CA519057444 | IDS | c.1521T>A (p.Pro507=) c.888T>A (p.Pro296=) c.1251T>A (p.Pro417=) | |
| X | g.149482879G>A | CA414517910 | IDS | c.1520C>T (p.Pro507Leu) c.887C>T (p.Pro296Leu) c.1250C>T (p.Pro417Leu) | |
| X | g.149482879G>C | CA414517911 | IDS | c.1520C>G (p.Pro507Arg) c.887C>G (p.Pro296Arg) c.1250C>G (p.Pro417Arg) | |
| X | g.149482879G>T | CA414517912 | IDS | c.1520C>A (p.Pro507His) c.887C>A (p.Pro296His) c.1250C>A (p.Pro417His) | |
| X | g.149482880G>A | CA414517913 | IDS | c.1519C>T (p.Pro507Ser) c.886C>T (p.Pro296Ser) c.1249C>T (p.Pro417Ser) | |
| X | g.149482880G>C | CA414517914 | IDS | c.1519C>G (p.Pro507Ala) c.886C>G (p.Pro296Ala) c.1249C>G (p.Pro417Ala) | |
| X | g.149482880G>T | CA414517915 | IDS | c.1519C>A (p.Pro507Thr) c.886C>A (p.Pro296Thr) c.1249C>A (p.Pro417Thr) | |
| X | g.149482881A>C | CA414517916 | IDS | c.1518T>G (p.Asn506Lys) c.885T>G (p.Asn295Lys) c.1248T>G (p.Asn416Lys) | |
| X | g.149482881A>G | CA519057445 | IDS | c.1518T>C (p.Asn506=) c.885T>C (p.Asn295=) c.1248T>C (p.Asn416=) | |
| X | g.149482881A>T | CA414517917 | IDS | c.1518T>A (p.Asn506Lys) c.885T>A (p.Asn295Lys) c.1248T>A (p.Asn416Lys) | |
| X | g.149482882T>A | CA414517918 | IDS | c.1517A>T (p.Asn506Ile) c.884A>T (p.Asn295Ile) c.1247A>T (p.Asn416Ile) | |
| X | g.149482882T>C | CA414517919 | IDS | c.1517A>G (p.Asn506Ser) c.884A>G (p.Asn295Ser) c.1247A>G (p.Asn416Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.149482882T>G | CA414517920 | IDS | c.1517A>C (p.Asn506Thr) c.884A>C (p.Asn295Thr) c.1247A>C (p.Asn416Thr) | |
| X | g.149482882T= | CA2465003959 | IDS | c.1517A= (p.Asn506=) c.884A= (p.Asn295=) c.1247A= (p.Asn416=) | |
| X | g.149482882_149482883insGGGC | CA2514271857 | IDS | c.1516_1517insGCCC (p.Asn506SerfsTer4) c.883_884insGCCC (p.Asn295SerfsTer4) c.1246_1247insGCCC (p.Asn416SerfsTer4) | |
| X | g.149482883T>A | CA414517921 | IDS | c.1516A>T (p.Asn506Tyr) c.883A>T (p.Asn295Tyr) c.1246A>T (p.Asn416Tyr) | |
| X | g.149482883T>C | CA414517923 | IDS | c.1516A>G (p.Asn506Asp) c.883A>G (p.Asn295Asp) c.1246A>G (p.Asn416Asp) | |
| X | g.149482883T>G | CA414517922 | IDS | c.1516A>C (p.Asn506His) c.883A>C (p.Asn295His) c.1246A>C (p.Asn416His) | |
| X | g.149482884G>A | CA519057446 | IDS | c.1515C>T (p.Phe505=) c.882C>T (p.Phe294=) c.1245C>T (p.Phe415=) | COSMIC |
| X | g.149482884G>C | CA414517924 | IDS | c.1515C>G (p.Phe505Leu) c.882C>G (p.Phe294Leu) c.1245C>G (p.Phe415Leu) | |
| X | g.149482884G>T | CA414517925 | IDS | c.1515C>A (p.Phe505Leu) c.882C>A (p.Phe294Leu) c.1245C>A (p.Phe415Leu) | |
| X | g.149482885A>C | CA414517926 | IDS | c.1514T>G (p.Phe505Cys) c.881T>G (p.Phe294Cys) c.1244T>G (p.Phe415Cys) | |
| X | g.149482885A>G | CA414517927 | IDS | c.1514T>C (p.Phe505Ser) c.881T>C (p.Phe294Ser) c.1244T>C (p.Phe415Ser) | |
| X | g.149482885A>T | CA414517928 | IDS | c.1514T>A (p.Phe505Tyr) c.881T>A (p.Phe294Tyr) c.1244T>A (p.Phe415Tyr) | |
| X | g.149482886A>C | CA414517929 | IDS | c.1513T>G (p.Phe505Val) c.880T>G (p.Phe294Val) c.1243T>G (p.Phe415Val) | |
| X | g.149482886A>G | CA414517930 | IDS | c.1513T>C (p.Phe505Leu) c.880T>C (p.Phe294Leu) c.1243T>C (p.Phe415Leu) | |
| X | g.149482886A>T | CA414517931 | IDS | c.1513T>A (p.Phe505Ile) c.880T>A (p.Phe294Ile) c.1243T>A (p.Phe415Ile) | |
| X | g.149482887G>A | CA519057447 | IDS | c.1512C>T (p.Gly504=) c.879C>T (p.Gly293=) c.1242C>T (p.Gly414=) | |
| X | g.149482887G>C | CA519057448 | IDS | c.1512C>G (p.Gly504=) c.879C>G (p.Gly293=) c.1242C>G (p.Gly414=) | |
| X | g.149482887G>T | CA519057449 | IDS | c.1512C>A (p.Gly504=) c.879C>A (p.Gly293=) c.1242C>A (p.Gly414=) | |
| X | g.149482888C>A | CA414517932 | IDS | c.1511G>T (p.Gly504Val) c.878G>T (p.Gly293Val) c.1241G>T (p.Gly414Val) | |
| X | g.149482888C= | CA2465003960 | IDS | c.1511G= (p.Gly504=) c.878G= (p.Gly293=) c.1241G= (p.Gly414=) | |
| X | g.149482888C>G | CA414517933 | IDS | c.1511G>C (p.Gly504Ala) c.878G>C (p.Gly293Ala) c.1241G>C (p.Gly414Ala) | |
| X | g.149482888C>T | CA414517934 | IDS | c.1511G>A (p.Gly504Asp) c.878G>A (p.Gly293Asp) c.1241G>A (p.Gly414Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149482889del | CA2695236481 | IDS | c.1511del (p.Gly504AlafsTer8) c.878del (p.Gly293AlafsTer8) c.1241del (p.Gly414AlafsTer8) | |
| X | g.149482889C>A | CA414517936 | IDS | c.1510G>T (p.Gly504Cys) c.877G>T (p.Gly293Cys) c.1240G>T (p.Gly414Cys) | |
| X | g.149482889C>G | CA414517937 | IDS | c.1510G>C (p.Gly504Arg) c.877G>C (p.Gly293Arg) c.1240G>C (p.Gly414Arg) | |
| X | g.149482889C>T | CA414517935 | IDS | c.1510G>A (p.Gly504Ser) c.877G>A (p.Gly293Ser) c.1240G>A (p.Gly414Ser) | |
| X | g.149482890A>C | CA519057450 | IDS | c.1509T>G (p.Val503=) c.876T>G (p.Val292=) c.1239T>G (p.Val413=) | |
| X | g.149482890A>G | CA519057452 | IDS | c.1509T>C (p.Val503=) c.876T>C (p.Val292=) c.1239T>C (p.Val413=) | |
| X | g.149482890A>T | CA519057451 | IDS | c.1509T>A (p.Val503=) c.876T>A (p.Val292=) c.1239T>A (p.Val413=) | |
| X | g.149482891del | CA2695236482 | IDS | c.1509del (p.Gly504AlafsTer8) c.876del (p.Gly293AlafsTer8) c.1239del (p.Gly414AlafsTer8) | |
| X | g.149482891A= | CA2465003961 | IDS | c.1508T= (p.Val503=) c.875T= (p.Val292=) c.1238T= (p.Val413=) | |
| X | g.149482891A>C | CA414517938 | IDS | c.1508T>G (p.Val503Gly) c.875T>G (p.Val292Gly) c.1238T>G (p.Val413Gly) | |
| X | g.149482891A>G | CA414517939 | IDS | c.1508T>C (p.Val503Ala) c.875T>C (p.Val292Ala) c.1238T>C (p.Val413Ala) | |
| X | g.149482891A>T | CA220492 | IDS | c.1508T>A (p.Val503Asp) c.875T>A (p.Val292Asp) c.1238T>A (p.Val413Asp) | ClinVar dbSNP |
| X | g.149482892C>A | CA337035522 | IDS | c.1507G>T (p.Val503Phe) c.874G>T (p.Val292Phe) c.1237G>T (p.Val413Phe) | dbSNP gnomAD v4 |
| X | g.149482892C= | CA2465003962 | IDS | c.1507G= (p.Val503=) c.874G= (p.Val292=) c.1237G= (p.Val413=) | |
| X | g.149482892C>G | CA414517940 | IDS | c.1507G>C (p.Val503Leu) c.874G>C (p.Val292Leu) c.1237G>C (p.Val413Leu) | |
| X | g.149482892C>T | CA414517941 | IDS | c.1507G>A (p.Val503Ile) c.874G>A (p.Val292Ile) c.1237G>A (p.Val413Ile) | |
| X | g.149482892_149482893insACA | CA2824136036 | IDS | c.1506_1507insTGT (p.Trp502_Val503insCys) c.873_874insTGT (p.Trp291_Val292insCys) c.1236_1237insTGT (p.Trp412_Val413insCys) | |
| X | g.149482893C>A | CA414517942 | IDS | c.1506G>T (p.Trp502Cys) c.873G>T (p.Trp291Cys) c.1236G>T (p.Trp412Cys) | ClinVar dbSNP |
| X | g.149482893C>G | CA414517943 | IDS | c.1506G>C (p.Trp502Cys) c.873G>C (p.Trp291Cys) c.1236G>C (p.Trp412Cys) | |
| X | g.149482893C>T | CA414517944 | IDS | c.1506G>A (p.Trp502Ter) c.873G>A (p.Trp291Ter) c.1236G>A (p.Trp412Ter) | ClinVar |
| X | g.149482894C>A | CA414517945 | IDS | c.1505G>T (p.Trp502Leu) c.872G>T (p.Trp291Leu) c.1235G>T (p.Trp412Leu) | |
| X | g.149482894C= | CA2465003963 | IDS | c.1505G= (p.Trp502=) c.872G= (p.Trp291=) c.1235G= (p.Trp412=) | |
| X | g.149482894C>G | CA255270 | IDS | c.1505G>C (p.Trp502Ser) c.872G>C (p.Trp291Ser) c.1235G>C (p.Trp412Ser) | ClinVar dbSNP |
| X | g.149482894C>T | CA414517946 | IDS | c.1505G>A (p.Trp502Ter) c.872G>A (p.Trp291Ter) c.1235G>A (p.Trp412Ter) | ClinVar dbSNP |
| X | g.149482894_149482895insCA | CA2824136038 | IDS | c.1504_1505insTG (p.Trp502LeufsTer11) c.871_872insTG (p.Trp291LeufsTer11) c.1234_1235insTG (p.Trp412LeufsTer11) | |
| X | g.149482895A= | CA2465003964 | IDS | c.1504T= (p.Trp502=) c.871T= (p.Trp291=) c.1234T= (p.Trp412=) | |
| X | g.149482895A>C | CA414517948 | IDS | c.1504T>G (p.Trp502Gly) c.871T>G (p.Trp291Gly) c.1234T>G (p.Trp412Gly) | ClinVar dbSNP |
| X | g.149482895A>G | CA414517949 | IDS | c.1504T>C (p.Trp502Arg) c.871T>C (p.Trp291Arg) c.1234T>C (p.Trp412Arg) | |
| X | g.149482895A>T | CA414517947 | IDS | c.1504T>A (p.Trp502Arg) c.871T>A (p.Trp291Arg) c.1234T>A (p.Trp412Arg) | ClinVar |
| X | g.149482895_149482896insAACACACCCAA | CA2824136037 | IDS | c.1504_1505insTGGGTGTGTTT (p.Trp502LeufsTer14) c.871_872insTGGGTGTGTTT (p.Trp291LeufsTer14) c.1234_1235insTGGGTGTGTTT (p.Trp412LeufsTer14) | |
| X | g.149482896C>A | CA519057453 | IDS | c.1503G>T (p.Val501=) c.870G>T (p.Val290=) c.1233G>T (p.Val411=) | |
| X | g.149482896C>G | CA519057454 | IDS | c.1503G>C (p.Val501=) c.870G>C (p.Val290=) c.1233G>C (p.Val411=) | ClinVar |
| X | g.149482896C>T | CA519057455 | IDS | c.1503G>A (p.Val501=) c.870G>A (p.Val290=) c.1233G>A (p.Val411=) | gnomAD v4 |
| X | g.149482897A>C | CA414517950 | IDS | c.1502T>G (p.Val501Gly) c.869T>G (p.Val290Gly) c.1232T>G (p.Val411Gly) | |
| X | g.149482897A>G | CA414517951 | IDS | c.1502T>C (p.Val501Ala) c.869T>C (p.Val290Ala) c.1232T>C (p.Val411Ala) | gnomAD v4 |
| X | g.149482897A>T | CA414517952 | IDS | c.1502T>A (p.Val501Glu) c.869T>A (p.Val290Glu) c.1232T>A (p.Val411Glu) | |
| X | g.149482898C>A | CA414517953 | IDS | c.1501G>T (p.Val501Leu) c.868G>T (p.Val290Leu) c.1231G>T (p.Val411Leu) | |
| X | g.149482898C>G | CA414517954 | IDS | c.1501G>C (p.Val501Leu) c.868G>C (p.Val290Leu) c.1231G>C (p.Val411Leu) | |
| X | g.149482898C>T | CA414517955 | IDS | c.1501G>A (p.Val501Met) c.868G>A (p.Val290Met) c.1231G>A (p.Val411Met) | gnomAD v4 |
| X | g.149482899A= | CA2465003965 | IDS | c.1500T= (p.Thr500=) c.867T= (p.Thr289=) c.1230T= (p.Thr410=) | |
| X | g.149482899A>C | CA519057456 | IDS | c.1500T>G (p.Thr500=) c.867T>G (p.Thr289=) c.1230T>G (p.Thr410=) | |
| X | g.149482899A>G | CA519057457 | IDS | c.1500T>C (p.Thr500=) c.867T>C (p.Thr289=) c.1230T>C (p.Thr410=) | ClinVar dbSNP gnomAD v4 |
| X | g.149482899A>T | CA519057458 | IDS | c.1500T>A (p.Thr500=) c.867T>A (p.Thr289=) c.1230T>A (p.Thr410=) | ClinVar |
| X | g.149482900G>A | CA10537437 | IDS | c.1499C>T (p.Thr500Ile) c.866C>T (p.Thr289Ile) c.1229C>T (p.Thr410Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149482900G>C | CA414517956 | IDS | c.1499C>G (p.Thr500Ser) c.866C>G (p.Thr289Ser) c.1229C>G (p.Thr410Ser) | |
| X | g.149482900G= | CA2465003966 | IDS | c.1499C= (p.Thr500=) c.866C= (p.Thr289=) c.1229C= (p.Thr410=) | |
| X | g.149482900G>T | CA414517957 | IDS | c.1499C>A (p.Thr500Asn) c.866C>A (p.Thr289Asn) c.1229C>A (p.Thr410Asn) | |
| X | g.149482901T>A | CA414517958 | IDS | c.1498A>T (p.Thr500Ser) c.865A>T (p.Thr289Ser) c.1228A>T (p.Thr410Ser) | |
| X | g.149482901T>C | CA414517959 | IDS | c.1498A>G (p.Thr500Ala) c.865A>G (p.Thr289Ala) c.1228A>G (p.Thr410Ala) | ClinVar |
| X | g.149482901T>G | CA414517960 | IDS | c.1498A>C (p.Thr500Pro) c.865A>C (p.Thr289Pro) c.1228A>C (p.Thr410Pro) | |
| X | g.149482902A= | CA2465003967 | IDS | c.1497T= (p.Tyr499=) c.864T= (p.Tyr288=) c.1227T= (p.Tyr409=) | |
| X | g.149482902A>C | CA414517961 | IDS | c.1497T>G (p.Tyr499Ter) c.864T>G (p.Tyr288Ter) c.1227T>G (p.Tyr409Ter) | ClinVar dbSNP |
| X | g.149482902A>G | CA519057459 | IDS | c.1497T>C (p.Tyr499=) c.864T>C (p.Tyr288=) c.1227T>C (p.Tyr409=) | |
| X | g.149482902A>T | CA414517962 | IDS | c.1497T>A (p.Tyr499Ter) c.864T>A (p.Tyr288Ter) c.1227T>A (p.Tyr409Ter) | |
| X | g.149482903T>A | CA414517964 | IDS | c.1496A>T (p.Tyr499Phe) c.863A>T (p.Tyr288Phe) c.1226A>T (p.Tyr409Phe) | |
| X | g.149482903T>C | CA337035523 | IDS | c.1496A>G (p.Tyr499Cys) c.863A>G (p.Tyr288Cys) c.1226A>G (p.Tyr409Cys) | dbSNP gnomAD v4 |
| X | g.149482903T>G | CA414517963 | IDS | c.1496A>C (p.Tyr499Ser) c.863A>C (p.Tyr288Ser) c.1226A>C (p.Tyr409Ser) | |
| X | g.149482903T= | CA2465003968 | IDS | c.1496A= (p.Tyr499=) c.863A= (p.Tyr288=) c.1226A= (p.Tyr409=) | |
| X | g.149482904A>C | CA414517965 | IDS | c.1495T>G (p.Tyr499Asp) c.862T>G (p.Tyr288Asp) c.1225T>G (p.Tyr409Asp) | |
| X | g.149482904A>G | CA414517967 | IDS | c.1495T>C (p.Tyr499His) c.862T>C (p.Tyr288His) c.1225T>C (p.Tyr409His) | |
| X | g.149482904A>T | CA414517966 | IDS | c.1495T>A (p.Tyr499Asn) c.862T>A (p.Tyr288Asn) c.1225T>A (p.Tyr409Asn) | |
| X | g.149482905C>A | CA414517968 | IDS | c.1494G>T (p.Arg498Ser) c.861G>T (p.Arg287Ser) c.1224G>T (p.Arg408Ser) | dbSNP |
| X | g.149482905C= | CA2465003969 | IDS | c.1494G= (p.Arg498=) c.861G= (p.Arg287=) c.1224G= (p.Arg408=) | |
| X | g.149482905C>G | CA414517969 | IDS | c.1494G>C (p.Arg498Ser) c.861G>C (p.Arg287Ser) c.1224G>C (p.Arg408Ser) | |
| X | g.149482905C>T | CA519057460 | IDS | c.1494G>A (p.Arg498=) c.861G>A (p.Arg287=) c.1224G>A (p.Arg408=) | |
| X | g.149482906del | CA2580101606 | IDS | c.1494del (p.Arg498SerfsTer14) c.861del (p.Arg287SerfsTer14) c.1224del (p.Arg408SerfsTer14) | ClinVar |