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 |
|---|---|---|---|---|---|
| 11 | g.13728658_13728669delinsATCTGGCGCATT | CA1953439101 | FAR1 | c.*257_*268delinsATCTGGCGCATT (n.*257_*268delinsATCTGGCGCATT) c.1432_1443delinsATCTGGCGCATT (p.Ile478=) c.304_315delinsATCTGGCGCATT (p.Ile102=) c.1441_1452delinsATCTGGCGCATT (p.Ile481=) c.1264_1275delinsATCTGGCGCATT (p.Ile422=) | |
| 11 | g.13728660_13728670del | CA5893561 | FAR1 | c.*259_*269del (n.*259_*269del) c.1434_1444del (p.Trp479TyrfsTer16) c.306_316del (p.Trp103TyrfsTer16) c.1443_1453del (p.Trp482TyrfsTer16) c.1266_1276del (p.Trp423TyrfsTer16) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13728664C>A | CA379859372 | FAR1 | c.*263C>A (n.*263C>A) c.1438C>A (p.Arg480Ser) c.310C>A (p.Arg104Ser) c.1447C>A (p.Arg483Ser) c.1270C>A (p.Arg424Ser) | ClinVar dbSNP |
| 11 | g.13728664C= | CA1953439102 | FAR1 | c.*263C= (n.*263C=) c.1438C= (p.Arg480=) c.310C= (p.Arg104=) c.1447C= (p.Arg483=) c.1270C= (p.Arg424=) | |
| 11 | g.13728664C>G | CA379859371 | FAR1 | c.*263C>G (n.*263C>G) c.1438C>G (p.Arg480Gly) c.310C>G (p.Arg104Gly) c.1447C>G (p.Arg483Gly) c.1270C>G (p.Arg424Gly) | |
| 11 | g.13728664C>T | CA16619294 | FAR1 | c.*263C>T (n.*263C>T) c.1438C>T (p.Arg480Cys) c.310C>T (p.Arg104Cys) c.1447C>T (p.Arg483Cys) c.1270C>T (p.Arg424Cys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.13728665G>A | CA16042832 | FAR1 | c.*264G>A (n.*264G>A) c.1439G>A (p.Arg480His) c.311G>A (p.Arg104His) c.1448G>A (p.Arg483His) c.1271G>A (p.Arg424His) | ClinVar dbSNP gnomAD v4 |
| 11 | g.13728665G>C | CA379859373 | FAR1 | c.*264G>C (n.*264G>C) c.1439G>C (p.Arg480Pro) c.311G>C (p.Arg104Pro) c.1448G>C (p.Arg483Pro) c.1271G>C (p.Arg424Pro) | |
| 11 | g.13728665G= | CA1953439103 | FAR1 | c.*264G= (n.*264G=) c.1439G= (p.Arg480=) c.311G= (p.Arg104=) c.1448G= (p.Arg483=) c.1271G= (p.Arg424=) | |
| 11 | g.13728665G>T | CA379859374 | FAR1 | c.*264G>T (n.*264G>T) c.1439G>T (p.Arg480Leu) c.311G>T (p.Arg104Leu) c.1448G>T (p.Arg483Leu) c.1271G>T (p.Arg424Leu) | ClinVar dbSNP |
| 11 | g.13728666C>A | CA473229141 | FAR1 | c.*265C>A (n.*265C>A) c.1440C>A (p.Arg480=) c.312C>A (p.Arg104=) c.1449C>A (p.Arg483=) c.1272C>A (p.Arg424=) | |
| 11 | g.13728666C= | CA1953439104 | FAR1 | c.*265C= (n.*265C=) c.1440C= (p.Arg480=) c.312C= (p.Arg104=) c.1449C= (p.Arg483=) c.1272C= (p.Arg424=) | |
| 11 | g.13728666C>G | CA473229142 | FAR1 | c.*265C>G (n.*265C>G) c.1440C>G (p.Arg480=) c.312C>G (p.Arg104=) c.1449C>G (p.Arg483=) c.1272C>G (p.Arg424=) | |
| 11 | g.13728666C>T | CA5893562 | FAR1 | c.*265C>T (n.*265C>T) c.1440C>T (p.Arg480=) c.312C>T (p.Arg104=) c.1449C>T (p.Arg483=) c.1272C>T (p.Arg424=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13728667A>C | CA379859375 | FAR1 | c.*266A>C (n.*266A>C) c.1441A>C (p.Ile481Leu) c.313A>C (p.Ile105Leu) c.1450A>C (p.Ile484Leu) c.1273A>C (p.Ile425Leu) | |
| 11 | g.13728667A>G | CA379859376 | FAR1 | c.*266A>G (n.*266A>G) c.1441A>G (p.Ile481Val) c.313A>G (p.Ile105Val) c.1450A>G (p.Ile484Val) c.1273A>G (p.Ile425Val) | gnomAD v4 |
| 11 | g.13728667A>T | CA379859377 | FAR1 | c.*266A>T (n.*266A>T) c.1441A>T (p.Ile481Phe) c.313A>T (p.Ile105Phe) c.1450A>T (p.Ile484Phe) c.1273A>T (p.Ile425Phe) | |
| 11 | g.13728668T>A | CA379859378 | FAR1 | c.*267T>A (n.*267T>A) c.1442T>A (p.Ile481Asn) c.314T>A (p.Ile105Asn) c.1451T>A (p.Ile484Asn) c.1274T>A (p.Ile425Asn) | |
| 11 | g.13728668T>C | CA379859379 | FAR1 | c.*267T>C (n.*267T>C) c.1442T>C (p.Ile481Thr) c.314T>C (p.Ile105Thr) c.1451T>C (p.Ile484Thr) c.1274T>C (p.Ile425Thr) | |
| 11 | g.13728668T>G | CA379859380 | FAR1 | c.*267T>G (n.*267T>G) c.1442T>G (p.Ile481Ser) c.314T>G (p.Ile105Ser) c.1451T>G (p.Ile484Ser) c.1274T>G (p.Ile425Ser) | |
| 11 | g.13728669T>A | CA473229144 | FAR1 | c.*268T>A (n.*268T>A) c.1443T>A (p.Ile481=) c.315T>A (p.Ile105=) c.1452T>A (p.Ile484=) c.1275T>A (p.Ile425=) | |
| 11 | g.13728669T>C | CA473229145 | FAR1 | c.*268T>C (n.*268T>C) c.1443T>C (p.Ile481=) c.315T>C (p.Ile105=) c.1452T>C (p.Ile484=) c.1275T>C (p.Ile425=) | |
| 11 | g.13728669T>G | CA379859381 | FAR1 | c.*268T>G (n.*268T>G) c.1443T>G (p.Ile481Met) c.315T>G (p.Ile105Met) c.1452T>G (p.Ile484Met) c.1275T>G (p.Ile425Met) | |
| 11 | g.13728670T>A | CA379859383 | FAR1 | c.*269T>A (n.*269T>A) c.1444T>A (p.Phe482Ile) c.316T>A (p.Phe106Ile) c.1453T>A (p.Phe485Ile) c.1276T>A (p.Phe426Ile) | |
| 11 | g.13728670T>C | CA379859384 | FAR1 | c.*269T>C (n.*269T>C) c.1444T>C (p.Phe482Leu) c.316T>C (p.Phe106Leu) c.1453T>C (p.Phe485Leu) c.1276T>C (p.Phe426Leu) | |
| 11 | g.13728670T>G | CA379859382 | FAR1 | c.*269T>G (n.*269T>G) c.1444T>G (p.Phe482Val) c.316T>G (p.Phe106Val) c.1453T>G (p.Phe485Val) c.1276T>G (p.Phe426Val) | |
| 11 | g.13728671T>A | CA379859385 | FAR1 | c.*270T>A (n.*270T>A) c.1445T>A (p.Phe482Tyr) c.317T>A (p.Phe106Tyr) c.1454T>A (p.Phe485Tyr) c.1277T>A (p.Phe426Tyr) | |
| 11 | g.13728671T>C | CA379859386 | FAR1 | c.*270T>C (n.*270T>C) c.1445T>C (p.Phe482Ser) c.317T>C (p.Phe106Ser) c.1454T>C (p.Phe485Ser) c.1277T>C (p.Phe426Ser) | |
| 11 | g.13728671T>G | CA379859387 | FAR1 | c.*270T>G (n.*270T>G) c.1445T>G (p.Phe482Cys) c.317T>G (p.Phe106Cys) c.1454T>G (p.Phe485Cys) c.1277T>G (p.Phe426Cys) | |
| 11 | g.13728672T>A | CA379859388 | FAR1 | c.*271T>A (n.*271T>A) c.1446T>A (p.Phe482Leu) c.318T>A (p.Phe106Leu) c.1455T>A (p.Phe485Leu) c.1278T>A (p.Phe426Leu) | |
| 11 | g.13728672T>C | CA473229146 | FAR1 | c.*271T>C (n.*271T>C) c.1446T>C (p.Phe482=) c.318T>C (p.Phe106=) c.1455T>C (p.Phe485=) c.1278T>C (p.Phe426=) | |
| 11 | g.13728672T>G | CA379859389 | FAR1 | c.*271T>G (n.*271T>G) c.1446T>G (p.Phe482Leu) c.318T>G (p.Phe106Leu) c.1455T>G (p.Phe485Leu) c.1278T>G (p.Phe426Leu) | |
| 11 | g.13728673A>C | CA379859390 | FAR1 | c.*272A>C (n.*272A>C) c.1447A>C (p.Ile483Leu) c.319A>C (p.Ile107Leu) c.1456A>C (p.Ile486Leu) c.1279A>C (p.Ile427Leu) | |
| 11 | g.13728673A>G | CA379859391 | FAR1 | c.*272A>G (n.*272A>G) c.1447A>G (p.Ile483Val) c.319A>G (p.Ile107Val) c.1456A>G (p.Ile486Val) c.1279A>G (p.Ile427Val) | |
| 11 | g.13728673A>T | CA379859392 | FAR1 | c.*272A>T (n.*272A>T) c.1447A>T (p.Ile483Phe) c.319A>T (p.Ile107Phe) c.1456A>T (p.Ile486Phe) c.1279A>T (p.Ile427Phe) | |
| 11 | g.13728674T>A | CA379859393 | FAR1 | c.*273T>A (n.*273T>A) c.1448T>A (p.Ile483Asn) c.320T>A (p.Ile107Asn) c.1457T>A (p.Ile486Asn) c.1280T>A (p.Ile427Asn) | |
| 11 | g.13728674T>C | CA379859394 | FAR1 | c.*273T>C (n.*273T>C) c.1448T>C (p.Ile483Thr) c.320T>C (p.Ile107Thr) c.1457T>C (p.Ile486Thr) c.1280T>C (p.Ile427Thr) | |
| 11 | g.13728674T>G | CA379859395 | FAR1 | c.*273T>G (n.*273T>G) c.1448T>G (p.Ile483Ser) c.320T>G (p.Ile107Ser) c.1457T>G (p.Ile486Ser) c.1280T>G (p.Ile427Ser) | |
| 11 | g.13728675T>A | CA473229148 | FAR1 | c.*274T>A (n.*274T>A) c.1449T>A (p.Ile483=) c.321T>A (p.Ile107=) c.1458T>A (p.Ile486=) c.1281T>A (p.Ile427=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13728675T>C | CA473229149 | FAR1 | c.*274T>C (n.*274T>C) c.1449T>C (p.Ile483=) c.321T>C (p.Ile107=) c.1458T>C (p.Ile486=) c.1281T>C (p.Ile427=) | ClinVar COSMIC |
| 11 | g.13728675T>G | CA379859396 | FAR1 | c.*274T>G (n.*274T>G) c.1449T>G (p.Ile483Met) c.321T>G (p.Ile107Met) c.1458T>G (p.Ile486Met) c.1281T>G (p.Ile427Met) | |
| 11 | g.13728675T= | CA1953439105 | FAR1 | c.*274T= (n.*274T=) c.1449T= (p.Ile483=) c.321T= (p.Ile107=) c.1458T= (p.Ile486=) c.1281T= (p.Ile427=) | |
| 11 | g.13728676G>A | CA379859398 | FAR1 | c.*275G>A (n.*275G>A) c.1450G>A (p.Ala484Thr) c.322G>A (p.Ala108Thr) c.1459G>A (p.Ala487Thr) c.1282G>A (p.Ala428Thr) | |
| 11 | g.13728676G>C | CA379859399 | FAR1 | c.*275G>C (n.*275G>C) c.1450G>C (p.Ala484Pro) c.322G>C (p.Ala108Pro) c.1459G>C (p.Ala487Pro) c.1282G>C (p.Ala428Pro) | |
| 11 | g.13728676G>T | CA379859397 | FAR1 | c.*275G>T (n.*275G>T) c.1450G>T (p.Ala484Ser) c.322G>T (p.Ala108Ser) c.1459G>T (p.Ala487Ser) c.1282G>T (p.Ala428Ser) | |
| 11 | g.13728677C>A | CA379859400 | FAR1 | c.*276C>A (n.*276C>A) c.1451C>A (p.Ala484Glu) c.323C>A (p.Ala108Glu) c.1460C>A (p.Ala487Glu) c.1283C>A (p.Ala428Glu) | |
| 11 | g.13728677C= | CA1953439106 | FAR1 | c.*276C= (n.*276C=) c.1451C= (p.Ala484=) c.323C= (p.Ala108=) c.1460C= (p.Ala487=) c.1283C= (p.Ala428=) | |
| 11 | g.13728677C>G | CA379859401 | FAR1 | c.*276C>G (n.*276C>G) c.1451C>G (p.Ala484Gly) c.323C>G (p.Ala108Gly) c.1460C>G (p.Ala487Gly) c.1283C>G (p.Ala428Gly) | |
| 11 | g.13728677C>T | CA379859402 | FAR1 | c.*276C>T (n.*276C>T) c.1451C>T (p.Ala484Val) c.323C>T (p.Ala108Val) c.1460C>T (p.Ala487Val) c.1283C>T (p.Ala428Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13728678A>C | CA473229150 | FAR1 | c.*277A>C (n.*277A>C) c.1452A>C (p.Ala484=) c.324A>C (p.Ala108=) c.1461A>C (p.Ala487=) c.1284A>C (p.Ala428=) | |
| 11 | g.13728678A>G | CA473229151 | FAR1 | c.*277A>G (n.*277A>G) c.1452A>G (p.Ala484=) c.324A>G (p.Ala108=) c.1461A>G (p.Ala487=) c.1284A>G (p.Ala428=) | |
| 11 | g.13728678A>T | CA473229152 | FAR1 | c.*277A>T (n.*277A>T) c.1452A>T (p.Ala484=) c.324A>T (p.Ala108=) c.1461A>T (p.Ala487=) c.1284A>T (p.Ala428=) | |
| 11 | g.13728679A= | CA1953439107 | FAR1 | c.*278A= (n.*278A=) c.1453A= (p.Arg485=) c.325A= (p.Arg109=) c.1462A= (p.Arg488=) c.1285A= (p.Arg429=) | |
| 11 | g.13728679A>C | CA218132528 | FAR1 | c.*278A>C (n.*278A>C) c.1453A>C (p.Arg485=) c.325A>C (p.Arg109=) c.1462A>C (p.Arg488=) c.1285A>C (p.Arg429=) | dbSNP |
| 11 | g.13728679A>G | CA379859403 | FAR1 | c.*278A>G (n.*278A>G) c.1453A>G (p.Arg485Gly) c.325A>G (p.Arg109Gly) c.1462A>G (p.Arg488Gly) c.1285A>G (p.Arg429Gly) | |
| 11 | g.13728679A>T | CA379859404 | FAR1 | c.*278A>T (n.*278A>T) c.1453A>T (p.Arg485Ter) c.325A>T (p.Arg109Ter) c.1462A>T (p.Arg488Ter) c.1285A>T (p.Arg429Ter) | |
| 11 | g.13728680G>A | CA379859407 | FAR1 | c.*279G>A (n.*279G>A) c.1454G>A (p.Arg485Lys) c.326G>A (p.Arg109Lys) c.1463G>A (p.Arg488Lys) c.1286G>A (p.Arg429Lys) | |
| 11 | g.13728680G>C | CA379859405 | FAR1 | c.*279G>C (n.*279G>C) c.1454G>C (p.Arg485Thr) c.326G>C (p.Arg109Thr) c.1463G>C (p.Arg488Thr) c.1286G>C (p.Arg429Thr) | |
| 11 | g.13728680G>T | CA379859406 | FAR1 | c.*279G>T (n.*279G>T) c.1454G>T (p.Arg485Ile) c.326G>T (p.Arg109Ile) c.1463G>T (p.Arg488Ile) c.1286G>T (p.Arg429Ile) | |
| 11 | g.13728681A>C | CA379859408 | FAR1 | c.*280A>C (n.*280A>C) c.1455A>C (p.Arg485Ser) c.327A>C (p.Arg109Ser) c.1464A>C (p.Arg488Ser) c.1287A>C (p.Arg429Ser) | |
| 11 | g.13728681A>G | CA473229154 | FAR1 | c.*280A>G (n.*280A>G) c.1455A>G (p.Arg485=) c.327A>G (p.Arg109=) c.1464A>G (p.Arg488=) c.1287A>G (p.Arg429=) | |
| 11 | g.13728681A>T | CA379859409 | FAR1 | c.*280A>T (n.*280A>T) c.1455A>T (p.Arg485Ser) c.327A>T (p.Arg109Ser) c.1464A>T (p.Arg488Ser) c.1287A>T (p.Arg429Ser) | |
| 11 | g.13728682T>A | CA379859410 | FAR1 | c.*281T>A (n.*281T>A) c.1456T>A (p.Ser486Thr) c.328T>A (p.Ser110Thr) c.1465T>A (p.Ser489Thr) c.1288T>A (p.Ser430Thr) | |
| 11 | g.13728682T>C | CA379859411 | FAR1 | c.*281T>C (n.*281T>C) c.1456T>C (p.Ser486Pro) c.328T>C (p.Ser110Pro) c.1465T>C (p.Ser489Pro) c.1288T>C (p.Ser430Pro) | |
| 11 | g.13728682T>G | CA379859412 | FAR1 | c.*281T>G (n.*281T>G) c.1456T>G (p.Ser486Ala) c.328T>G (p.Ser110Ala) c.1465T>G (p.Ser489Ala) c.1288T>G (p.Ser430Ala) | |
| 11 | g.13728683C>A | CA379859413 | FAR1 | c.*282C>A (n.*282C>A) c.1457C>A (p.Ser486Ter) c.329C>A (p.Ser110Ter) c.1466C>A (p.Ser489Ter) c.1289C>A (p.Ser430Ter) | |
| 11 | g.13728683C>G | CA379859415 | FAR1 | c.*282C>G (n.*282C>G) c.1457C>G (p.Ser486Ter) c.329C>G (p.Ser110Ter) c.1466C>G (p.Ser489Ter) c.1289C>G (p.Ser430Ter) | |
| 11 | g.13728683C>T | CA379859414 | FAR1 | c.*282C>T (n.*282C>T) c.1457C>T (p.Ser486Leu) c.329C>T (p.Ser110Leu) c.1466C>T (p.Ser489Leu) c.1289C>T (p.Ser430Leu) | ClinVar dbSNP |
| 11 | g.13728684A>C | CA473229156 | FAR1 | c.*283A>C (n.*283A>C) c.1458A>C (p.Ser486=) c.330A>C (p.Ser110=) c.1467A>C (p.Ser489=) c.1290A>C (p.Ser430=) | gnomAD v4 |
| 11 | g.13728684A>G | CA473229157 | FAR1 | c.*283A>G (n.*283A>G) c.1458A>G (p.Ser486=) c.330A>G (p.Ser110=) c.1467A>G (p.Ser489=) c.1290A>G (p.Ser430=) | |
| 11 | g.13728684A>T | CA473229158 | FAR1 | c.*283A>T (n.*283A>T) c.1458A>T (p.Ser486=) c.330A>T (p.Ser110=) c.1467A>T (p.Ser489=) c.1290A>T (p.Ser430=) | |
| 11 | g.13728685C>A | CA379859416 | FAR1 | c.*284C>A (n.*284C>A) c.1459C>A (p.Gln487Lys) c.331C>A (p.Gln111Lys) c.1468C>A (p.Gln490Lys) c.1291C>A (p.Gln431Lys) | |
| 11 | g.13728685C>G | CA379859418 | FAR1 | c.*284C>G (n.*284C>G) c.1459C>G (p.Gln487Glu) c.331C>G (p.Gln111Glu) c.1468C>G (p.Gln490Glu) c.1291C>G (p.Gln431Glu) | |
| 11 | g.13728685C>T | CA379859417 | FAR1 | c.*284C>T (n.*284C>T) c.1459C>T (p.Gln487Ter) c.331C>T (p.Gln111Ter) c.1468C>T (p.Gln490Ter) c.1291C>T (p.Gln431Ter) | |
| 11 | g.13728686A= | CA1953439108 | FAR1 | c.*285A= (n.*285A=) c.1460A= (p.Gln487=) c.332A= (p.Gln111=) c.1469A= (p.Gln490=) c.1292A= (p.Gln431=) | |
| 11 | g.13728686A>C | CA379859419 | FAR1 | c.*285A>C (n.*285A>C) c.1460A>C (p.Gln487Pro) c.332A>C (p.Gln111Pro) c.1469A>C (p.Gln490Pro) c.1292A>C (p.Gln431Pro) | |
| 11 | g.13728686A>G | CA218132529 | FAR1 | c.*285A>G (n.*285A>G) c.1460A>G (p.Gln487Arg) c.332A>G (p.Gln111Arg) c.1469A>G (p.Gln490Arg) c.1292A>G (p.Gln431Arg) | dbSNP |
| 11 | g.13728686A>T | CA379859420 | FAR1 | c.*285A>T (n.*285A>T) c.1460A>T (p.Gln487Leu) c.332A>T (p.Gln111Leu) c.1469A>T (p.Gln490Leu) c.1292A>T (p.Gln431Leu) | |
| 11 | g.13728687A>C | CA379859421 | FAR1 | c.*286A>C (n.*286A>C) c.1461A>C (p.Gln487His) c.333A>C (p.Gln111His) c.1470A>C (p.Gln490His) c.1293A>C (p.Gln431His) | |
| 11 | g.13728687A>G | CA473229162 | FAR1 | c.*286A>G (n.*286A>G) c.1461A>G (p.Gln487=) c.333A>G (p.Gln111=) c.1470A>G (p.Gln490=) c.1293A>G (p.Gln431=) | |
| 11 | g.13728687A>T | CA379859422 | FAR1 | c.*286A>T (n.*286A>T) c.1461A>T (p.Gln487His) c.333A>T (p.Gln111His) c.1470A>T (p.Gln490His) c.1293A>T (p.Gln431His) | |
| 11 | g.13728688A>C | CA379859423 | FAR1 | c.*287A>C (n.*287A>C) c.1462A>C (p.Met488Leu) c.334A>C (p.Met112Leu) c.1471A>C (p.Met491Leu) c.1294A>C (p.Met432Leu) | |
| 11 | g.13728688A>G | CA379859424 | FAR1 | c.*287A>G (n.*287A>G) c.1462A>G (p.Met488Val) c.334A>G (p.Met112Val) c.1471A>G (p.Met491Val) c.1294A>G (p.Met432Val) | |
| 11 | g.13728688A>T | CA379859425 | FAR1 | c.*287A>T (n.*287A>T) c.1462A>T (p.Met488Leu) c.334A>T (p.Met112Leu) c.1471A>T (p.Met491Leu) c.1294A>T (p.Met432Leu) | |
| 11 | g.13728689T>A | CA379859426 | FAR1 | c.*288T>A (n.*288T>A) c.1463T>A (p.Met488Lys) c.335T>A (p.Met112Lys) c.1472T>A (p.Met491Lys) c.1295T>A (p.Met432Lys) | |
| 11 | g.13728689T>C | CA379859427 | FAR1 | c.*288T>C (n.*288T>C) c.1463T>C (p.Met488Thr) c.335T>C (p.Met112Thr) c.1472T>C (p.Met491Thr) c.1295T>C (p.Met432Thr) | |
| 11 | g.13728689T>G | CA379859428 | FAR1 | c.*288T>G (n.*288T>G) c.1463T>G (p.Met488Arg) c.335T>G (p.Met112Arg) c.1472T>G (p.Met491Arg) c.1295T>G (p.Met432Arg) | |
| 11 | g.13728690G>A | CA379859429 | FAR1 | c.*289G>A (n.*289G>A) c.1464G>A (p.Met488Ile) c.336G>A (p.Met112Ile) c.1473G>A (p.Met491Ile) c.1296G>A (p.Met432Ile) | |
| 11 | g.13728690G>C | CA379859430 | FAR1 | c.*289G>C (n.*289G>C) c.1464G>C (p.Met488Ile) c.336G>C (p.Met112Ile) c.1473G>C (p.Met491Ile) c.1296G>C (p.Met432Ile) | |
| 11 | g.13728690G>T | CA379859431 | FAR1 | c.*289G>T (n.*289G>T) c.1464G>T (p.Met488Ile) c.336G>T (p.Met112Ile) c.1473G>T (p.Met491Ile) c.1296G>T (p.Met432Ile) | |
| 11 | g.13728691G>A | CA379859434 | FAR1 | c.*290G>A (n.*290G>A) c.1465G>A (p.Ala489Thr) c.337G>A (p.Ala113Thr) c.1474G>A (p.Ala492Thr) c.1297G>A (p.Ala433Thr) | ClinVar dbSNP |
| 11 | g.13728691G>C | CA379859432 | FAR1 | c.*290G>C (n.*290G>C) c.1465G>C (p.Ala489Pro) c.337G>C (p.Ala113Pro) c.1474G>C (p.Ala492Pro) c.1297G>C (p.Ala433Pro) | |
| 11 | g.13728691G>T | CA379859433 | FAR1 | c.*290G>T (n.*290G>T) c.1465G>T (p.Ala489Ser) c.337G>T (p.Ala113Ser) c.1474G>T (p.Ala492Ser) c.1297G>T (p.Ala433Ser) | |
| 11 | g.13728692C>A | CA379859435 | FAR1 | c.*291C>A (n.*291C>A) c.1466C>A (p.Ala489Glu) c.338C>A (p.Ala113Glu) c.1475C>A (p.Ala492Glu) c.1298C>A (p.Ala433Glu) | |
| 11 | g.13728692C>G | CA379859436 | FAR1 | c.*291C>G (n.*291C>G) c.1466C>G (p.Ala489Gly) c.338C>G (p.Ala113Gly) c.1475C>G (p.Ala492Gly) c.1298C>G (p.Ala433Gly) | |
| 11 | g.13728692C>T | CA379859437 | FAR1 | c.*291C>T (n.*291C>T) c.1466C>T (p.Ala489Val) c.338C>T (p.Ala113Val) c.1475C>T (p.Ala492Val) c.1298C>T (p.Ala433Val) | |
| 11 | g.13728693A>C | CA473229163 | FAR1 | c.*292A>C (n.*292A>C) c.1467A>C (p.Ala489=) c.339A>C (p.Ala113=) c.1476A>C (p.Ala492=) c.1299A>C (p.Ala433=) | |
| 11 | g.13728693A>G | CA473229165 | FAR1 | c.*292A>G (n.*292A>G) c.1467A>G (p.Ala489=) c.339A>G (p.Ala113=) c.1476A>G (p.Ala492=) c.1299A>G (p.Ala433=) | |
| 11 | g.13728693A>T | CA473229164 | FAR1 | c.*292A>T (n.*292A>T) c.1467A>T (p.Ala489=) c.339A>T (p.Ala113=) c.1476A>T (p.Ala492=) c.1299A>T (p.Ala433=) | |
| 11 | g.13728694A>C | CA473229166 | FAR1 | c.*293A>C (n.*293A>C) c.1468A>C (p.Arg490=) c.340A>C (p.Arg114=) c.1477A>C (p.Arg493=) c.1300A>C (p.Arg434=) | |
| 11 | g.13728694A>G | CA379859438 | FAR1 | c.*293A>G (n.*293A>G) c.1468A>G (p.Arg490Gly) c.340A>G (p.Arg114Gly) c.1477A>G (p.Arg493Gly) c.1300A>G (p.Arg434Gly) | gnomAD v4 |
| 11 | g.13728694A>T | CA379859439 | FAR1 | c.*293A>T (n.*293A>T) c.1468A>T (p.Arg490Ter) c.340A>T (p.Arg114Ter) c.1477A>T (p.Arg493Ter) c.1300A>T (p.Arg434Ter) | |
| 11 | g.13728695G>A | CA379859440 | FAR1 | c.*294G>A (n.*294G>A) c.1469G>A (p.Arg490Lys) c.341G>A (p.Arg114Lys) c.1478G>A (p.Arg493Lys) c.1301G>A (p.Arg434Lys) | |
| 11 | g.13728695G>C | CA379859441 | FAR1 | c.*294G>C (n.*294G>C) c.1469G>C (p.Arg490Thr) c.341G>C (p.Arg114Thr) c.1478G>C (p.Arg493Thr) c.1301G>C (p.Arg434Thr) | |
| 11 | g.13728695G>T | CA379859442 | FAR1 | c.*294G>T (n.*294G>T) c.1469G>T (p.Arg490Ile) c.341G>T (p.Arg114Ile) c.1478G>T (p.Arg493Ile) c.1301G>T (p.Arg434Ile) | |
| 11 | g.13728696A>C | CA379859443 | FAR1 | c.*295A>C (n.*295A>C) c.1470A>C (p.Arg490Ser) c.342A>C (p.Arg114Ser) c.1479A>C (p.Arg493Ser) c.1302A>C (p.Arg434Ser) | |
| 11 | g.13728696A>G | CA473229167 | FAR1 | c.*295A>G (n.*295A>G) c.1470A>G (p.Arg490=) c.342A>G (p.Arg114=) c.1479A>G (p.Arg493=) c.1302A>G (p.Arg434=) | |
| 11 | g.13728696A>T | CA379859444 | FAR1 | c.*295A>T (n.*295A>T) c.1470A>T (p.Arg490Ser) c.342A>T (p.Arg114Ser) c.1479A>T (p.Arg493Ser) c.1302A>T (p.Arg434Ser) | |
| 11 | g.13728697A>C | CA379859447 | FAR1 | c.*296A>C (n.*296A>C) c.1471A>C (p.Asn491His) c.343A>C (p.Asn115His) c.1480A>C (p.Asn494His) c.1303A>C (p.Asn435His) | |
| 11 | g.13728697A>G | CA379859446 | FAR1 | c.*296A>G (n.*296A>G) c.1471A>G (p.Asn491Asp) c.343A>G (p.Asn115Asp) c.1480A>G (p.Asn494Asp) c.1303A>G (p.Asn435Asp) | ClinVar dbSNP |
| 11 | g.13728697A>T | CA379859445 | FAR1 | c.*296A>T (n.*296A>T) c.1471A>T (p.Asn491Tyr) c.343A>T (p.Asn115Tyr) c.1480A>T (p.Asn494Tyr) c.1303A>T (p.Asn435Tyr) | |
| 11 | g.13728698A>C | CA379859448 | FAR1 | c.*297A>C (n.*297A>C) c.1472A>C (p.Asn491Thr) c.344A>C (p.Asn115Thr) c.1481A>C (p.Asn494Thr) c.1304A>C (p.Asn435Thr) | |
| 11 | g.13728698A>G | CA379859449 | FAR1 | c.*297A>G (n.*297A>G) c.1472A>G (p.Asn491Ser) c.344A>G (p.Asn115Ser) c.1481A>G (p.Asn494Ser) c.1304A>G (p.Asn435Ser) | gnomAD v4 |
| 11 | g.13728698A>T | CA379859450 | FAR1 | c.*297A>T (n.*297A>T) c.1472A>T (p.Asn491Ile) c.344A>T (p.Asn115Ile) c.1481A>T (p.Asn494Ile) c.1304A>T (p.Asn435Ile) | |
| 11 | g.13728699T>A | CA379859451 | FAR1 | c.*298T>A (n.*298T>A) c.1473T>A (p.Asn491Lys) c.345T>A (p.Asn115Lys) c.1482T>A (p.Asn494Lys) c.1305T>A (p.Asn435Lys) | |
| 11 | g.13728699T>C | CA473229168 | FAR1 | c.*298T>C (n.*298T>C) c.1473T>C (p.Asn491=) c.345T>C (p.Asn115=) c.1482T>C (p.Asn494=) c.1305T>C (p.Asn435=) | |
| 11 | g.13728699T>G | CA379859452 | FAR1 | c.*298T>G (n.*298T>G) c.1473T>G (p.Asn491Lys) c.345T>G (p.Asn115Lys) c.1482T>G (p.Asn494Lys) c.1305T>G (p.Asn435Lys) | |
| 11 | g.13728700A>C | CA379859453 | FAR1 | c.*299A>C (n.*299A>C) c.1474A>C (p.Ile492Leu) c.346A>C (p.Ile116Leu) c.1483A>C (p.Ile495Leu) c.1306A>C (p.Ile436Leu) | gnomAD v4 |
| 11 | g.13728700A>G | CA379859454 | FAR1 | c.*299A>G (n.*299A>G) c.1474A>G (p.Ile492Val) c.346A>G (p.Ile116Val) c.1483A>G (p.Ile495Val) c.1306A>G (p.Ile436Val) | |
| 11 | g.13728700A>T | CA379859455 | FAR1 | c.*299A>T (n.*299A>T) c.1474A>T (p.Ile492Phe) c.346A>T (p.Ile116Phe) c.1483A>T (p.Ile495Phe) c.1306A>T (p.Ile436Phe) | |
| 11 | g.13728701T>A | CA379859456 | FAR1 | c.*300T>A (n.*300T>A) c.1475T>A (p.Ile492Asn) c.347T>A (p.Ile116Asn) c.1484T>A (p.Ile495Asn) c.1307T>A (p.Ile436Asn) | |
| 11 | g.13728701T>C | CA379859457 | FAR1 | c.*300T>C (n.*300T>C) c.1475T>C (p.Ile492Thr) c.347T>C (p.Ile116Thr) c.1484T>C (p.Ile495Thr) c.1307T>C (p.Ile436Thr) | gnomAD v4 |
| 11 | g.13728701T>G | CA379859458 | FAR1 | c.*300T>G (n.*300T>G) c.1475T>G (p.Ile492Ser) c.347T>G (p.Ile116Ser) c.1484T>G (p.Ile495Ser) c.1307T>G (p.Ile436Ser) | |
| 11 | g.13728702C>A | CA473229169 | FAR1 | c.*301C>A (n.*301C>A) c.1476C>A (p.Ile492=) c.348C>A (p.Ile116=) c.1485C>A (p.Ile495=) c.1308C>A (p.Ile436=) | |
| 11 | g.13728702C>G | CA379859459 | FAR1 | c.*301C>G (n.*301C>G) c.1476C>G (p.Ile492Met) c.348C>G (p.Ile116Met) c.1485C>G (p.Ile495Met) c.1308C>G (p.Ile436Met) | |
| 11 | g.13728702C>T | CA473229170 | FAR1 | c.*301C>T (n.*301C>T) c.1476C>T (p.Ile492=) c.348C>T (p.Ile116=) c.1485C>T (p.Ile495=) c.1308C>T (p.Ile436=) | |
| 11 | g.13728703T>A | CA379859462 | FAR1 | c.*302T>A (n.*302T>A) c.1477T>A (p.Trp493Arg) c.349T>A (p.Trp117Arg) c.1486T>A (p.Trp496Arg) c.1309T>A (p.Trp437Arg) | |
| 11 | g.13728703T>C | CA379859460 | FAR1 | c.*302T>C (n.*302T>C) c.1477T>C (p.Trp493Arg) c.349T>C (p.Trp117Arg) c.1486T>C (p.Trp496Arg) c.1309T>C (p.Trp437Arg) | |
| 11 | g.13728703T>G | CA379859461 | FAR1 | c.*302T>G (n.*302T>G) c.1477T>G (p.Trp493Gly) c.349T>G (p.Trp117Gly) c.1486T>G (p.Trp496Gly) c.1309T>G (p.Trp437Gly) | |
| 11 | g.13728704G>A | CA379859463 | FAR1 | c.*303G>A (n.*303G>A) c.1478G>A (p.Trp493Ter) c.350G>A (p.Trp117Ter) c.1487G>A (p.Trp496Ter) c.1310G>A (p.Trp437Ter) | |
| 11 | g.13728704G>C | CA379859464 | FAR1 | c.*303G>C (n.*303G>C) c.1478G>C (p.Trp493Ser) c.350G>C (p.Trp117Ser) c.1487G>C (p.Trp496Ser) c.1310G>C (p.Trp437Ser) | |
| 11 | g.13728704G>T | CA379859465 | FAR1 | c.*303G>T (n.*303G>T) c.1478G>T (p.Trp493Leu) c.350G>T (p.Trp117Leu) c.1487G>T (p.Trp496Leu) c.1310G>T (p.Trp437Leu) | |
| 11 | g.13728705G>A | CA379859466 | FAR1 | c.*304G>A (n.*304G>A) c.1479G>A (p.Trp493Ter) c.351G>A (p.Trp117Ter) c.1488G>A (p.Trp496Ter) c.1311G>A (p.Trp437Ter) | |
| 11 | g.13728705G>C | CA379859467 | FAR1 | c.*304G>C (n.*304G>C) c.1479G>C (p.Trp493Cys) c.351G>C (p.Trp117Cys) c.1488G>C (p.Trp496Cys) c.1311G>C (p.Trp437Cys) | |
| 11 | g.13728705G>T | CA379859468 | FAR1 | c.*304G>T (n.*304G>T) c.1479G>T (p.Trp493Cys) c.351G>T (p.Trp117Cys) c.1488G>T (p.Trp496Cys) c.1311G>T (p.Trp437Cys) | |
| 11 | g.13728706T>A | CA379859469 | FAR1 | c.*305T>A (n.*305T>A) c.1480T>A (p.Tyr494Asn) c.352T>A (p.Tyr118Asn) c.1489T>A (p.Tyr497Asn) c.1312T>A (p.Tyr438Asn) | |
| 11 | g.13728706T>C | CA379859470 | FAR1 | c.*305T>C (n.*305T>C) c.1480T>C (p.Tyr494His) c.352T>C (p.Tyr118His) c.1489T>C (p.Tyr497His) c.1312T>C (p.Tyr438His) | |
| 11 | g.13728706T>G | CA379859471 | FAR1 | c.*305T>G (n.*305T>G) c.1480T>G (p.Tyr494Asp) c.352T>G (p.Tyr118Asp) c.1489T>G (p.Tyr497Asp) c.1312T>G (p.Tyr438Asp) | |
| 11 | g.13728707A>C | CA379859472 | FAR1 | c.*306A>C (n.*306A>C) c.1481A>C (p.Tyr494Ser) c.353A>C (p.Tyr118Ser) c.1490A>C (p.Tyr497Ser) c.1313A>C (p.Tyr438Ser) | |
| 11 | g.13728707A>G | CA379859473 | FAR1 | c.*306A>G (n.*306A>G) c.1481A>G (p.Tyr494Cys) c.353A>G (p.Tyr118Cys) c.1490A>G (p.Tyr497Cys) c.1313A>G (p.Tyr438Cys) | |
| 11 | g.13728707A>T | CA379859474 | FAR1 | c.*306A>T (n.*306A>T) c.1481A>T (p.Tyr494Phe) c.353A>T (p.Tyr118Phe) c.1490A>T (p.Tyr497Phe) c.1313A>T (p.Tyr438Phe) | |
| 11 | g.13728708C>A | CA379859475 | FAR1 | c.*307C>A (n.*307C>A) c.1482C>A (p.Tyr494Ter) c.354C>A (p.Tyr118Ter) c.1491C>A (p.Tyr497Ter) c.1314C>A (p.Tyr438Ter) | |
| 11 | g.13728708C= | CA1953439109 | FAR1 | c.*307C= (n.*307C=) c.1482C= (p.Tyr494=) c.354C= (p.Tyr118=) c.1491C= (p.Tyr497=) c.1314C= (p.Tyr438=) | |
| 11 | g.13728708C>G | CA379859476 | FAR1 | c.*307C>G (n.*307C>G) c.1482C>G (p.Tyr494Ter) c.354C>G (p.Tyr118Ter) c.1491C>G (p.Tyr497Ter) c.1314C>G (p.Tyr438Ter) | |
| 11 | g.13728708C>T | CA5893563 | FAR1 | c.*307C>T (n.*307C>T) c.1482C>T (p.Tyr494=) c.354C>T (p.Tyr118=) c.1491C>T (p.Tyr497=) c.1314C>T (p.Tyr438=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13728709T>A | CA379859477 | FAR1 | c.*308T>A (n.*308T>A) c.1483T>A (p.Phe495Ile) c.355T>A (p.Phe119Ile) c.1492T>A (p.Phe498Ile) c.1315T>A (p.Phe439Ile) | |
| 11 | g.13728709T>C | CA379859478 | FAR1 | c.*308T>C (n.*308T>C) c.1483T>C (p.Phe495Leu) c.355T>C (p.Phe119Leu) c.1492T>C (p.Phe498Leu) c.1315T>C (p.Phe439Leu) | gnomAD v4 |
| 11 | g.13728709T>G | CA379859479 | FAR1 | c.*308T>G (n.*308T>G) c.1483T>G (p.Phe495Val) c.355T>G (p.Phe119Val) c.1492T>G (p.Phe498Val) c.1315T>G (p.Phe439Val) | |
| 11 | g.13728710T>A | CA379859480 | FAR1 | c.*309T>A (n.*309T>A) c.1484T>A (p.Phe495Tyr) c.356T>A (p.Phe119Tyr) c.1493T>A (p.Phe498Tyr) c.1316T>A (p.Phe439Tyr) | |
| 11 | g.13728710T>C | CA379859481 | FAR1 | c.*309T>C (n.*309T>C) c.1484T>C (p.Phe495Ser) c.356T>C (p.Phe119Ser) c.1493T>C (p.Phe498Ser) c.1316T>C (p.Phe439Ser) | |
| 11 | g.13728710T>G | CA379859482 | FAR1 | c.*309T>G (n.*309T>G) c.1484T>G (p.Phe495Cys) c.356T>G (p.Phe119Cys) c.1493T>G (p.Phe498Cys) c.1316T>G (p.Phe439Cys) | |
| 11 | g.13728711T>A | CA379859484 | FAR1 | c.*310T>A (n.*310T>A) c.1485T>A (p.Phe495Leu) c.357T>A (p.Phe119Leu) c.1494T>A (p.Phe498Leu) c.1317T>A (p.Phe439Leu) | |
| 11 | g.13728711T>C | CA473229171 | FAR1 | c.*310T>C (n.*310T>C) c.1485T>C (p.Phe495=) c.357T>C (p.Phe119=) c.1494T>C (p.Phe498=) c.1317T>C (p.Phe439=) | |
| 11 | g.13728711T>G | CA379859483 | FAR1 | c.*310T>G (n.*310T>G) c.1485T>G (p.Phe495Leu) c.357T>G (p.Phe119Leu) c.1494T>G (p.Phe498Leu) c.1317T>G (p.Phe439Leu) | |
| 11 | g.13728712G>A | CA379859485 | FAR1 | c.*311G>A (n.*311G>A) c.1486G>A (p.Val496Met) c.358G>A (p.Val120Met) c.1495G>A (p.Val499Met) c.1318G>A (p.Val440Met) | dbSNP |
| 11 | g.13728712G>C | CA379859486 | FAR1 | c.*311G>C (n.*311G>C) c.1486G>C (p.Val496Leu) c.358G>C (p.Val120Leu) c.1495G>C (p.Val499Leu) c.1318G>C (p.Val440Leu) | |
| 11 | g.13728712G>T | CA379859487 | FAR1 | c.*311G>T (n.*311G>T) c.1486G>T (p.Val496Leu) c.358G>T (p.Val120Leu) c.1495G>T (p.Val499Leu) c.1318G>T (p.Val440Leu) | |
| 11 | g.13728713T>A | CA379859488 | FAR1 | c.*312T>A (n.*312T>A) c.1487T>A (p.Val496Glu) c.359T>A (p.Val120Glu) c.1496T>A (p.Val499Glu) c.1319T>A (p.Val440Glu) | |
| 11 | g.13728713T>C | CA379859489 | FAR1 | c.*312T>C (n.*312T>C) c.1487T>C (p.Val496Ala) c.359T>C (p.Val120Ala) c.1496T>C (p.Val499Ala) c.1319T>C (p.Val440Ala) | |
| 11 | g.13728713T>G | CA379859490 | FAR1 | c.*312T>G (n.*312T>G) c.1487T>G (p.Val496Gly) c.359T>G (p.Val120Gly) c.1496T>G (p.Val499Gly) c.1319T>G (p.Val440Gly) | |
| 11 | g.13728714G>A | CA473229174 | FAR1 | c.*313G>A (n.*313G>A) c.1488G>A (p.Val496=) c.360G>A (p.Val120=) c.1497G>A (p.Val499=) c.1320G>A (p.Val440=) | ClinVar dbSNP |
| 11 | g.13728714G>C | CA473229173 | FAR1 | c.*313G>C (n.*313G>C) c.1488G>C (p.Val496=) c.360G>C (p.Val120=) c.1497G>C (p.Val499=) c.1320G>C (p.Val440=) | |
| 11 | g.13728714G= | CA1953439110 | FAR1 | c.*313G= (n.*313G=) c.1488G= (p.Val496=) c.360G= (p.Val120=) c.1497G= (p.Val499=) c.1320G= (p.Val440=) | |
| 11 | g.13728714G>T | CA473229172 | FAR1 | c.*313G>T (n.*313G>T) c.1488G>T (p.Val496=) c.360G>T (p.Val120=) c.1497G>T (p.Val499=) c.1320G>T (p.Val440=) | |
| 11 | g.13728715G>A | CA379859493 | FAR1 | c.*314G>A (n.*314G>A) c.1489G>A (p.Val497Ile) c.361G>A (p.Val121Ile) c.1498G>A (p.Val500Ile) c.1321G>A (p.Val441Ile) | |
| 11 | g.13728715G>C | CA379859491 | FAR1 | c.*314G>C (n.*314G>C) c.1489G>C (p.Val497Leu) c.361G>C (p.Val121Leu) c.1498G>C (p.Val500Leu) c.1321G>C (p.Val441Leu) | |
| 11 | g.13728715G>T | CA379859492 | FAR1 | c.*314G>T (n.*314G>T) c.1489G>T (p.Val497Phe) c.361G>T (p.Val121Phe) c.1498G>T (p.Val500Phe) c.1321G>T (p.Val441Phe) | |
| 11 | g.13728716T>A | CA379859494 | FAR1 | c.*315T>A (n.*315T>A) c.1490T>A (p.Val497Asp) c.362T>A (p.Val121Asp) c.1499T>A (p.Val500Asp) c.1322T>A (p.Val441Asp) | |
| 11 | g.13728716T>C | CA379859495 | FAR1 | c.*315T>C (n.*315T>C) c.1490T>C (p.Val497Ala) c.362T>C (p.Val121Ala) c.1499T>C (p.Val500Ala) c.1322T>C (p.Val441Ala) | |
| 11 | g.13728716T>G | CA379859496 | FAR1 | c.*315T>G (n.*315T>G) c.1490T>G (p.Val497Gly) c.362T>G (p.Val121Gly) c.1499T>G (p.Val500Gly) c.1322T>G (p.Val441Gly) | |
| 11 | g.13728717T>A | CA473229177 | FAR1 | c.*316T>A (n.*316T>A) c.1491T>A (p.Val497=) c.363T>A (p.Val121=) c.1500T>A (p.Val500=) c.1323T>A (p.Val441=) | |
| 11 | g.13728717T>C | CA473229176 | FAR1 | c.*316T>C (n.*316T>C) c.1491T>C (p.Val497=) c.363T>C (p.Val121=) c.1500T>C (p.Val500=) c.1323T>C (p.Val441=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13728717T>G | CA473229175 | FAR1 | c.*316T>G (n.*316T>G) c.1491T>G (p.Val497=) c.363T>G (p.Val121=) c.1500T>G (p.Val500=) c.1323T>G (p.Val441=) | |
| 11 | g.13728717T= | CA1953439111 | FAR1 | c.*316T= (n.*316T=) c.1491T= (p.Val497=) c.363T= (p.Val121=) c.1500T= (p.Val500=) c.1323T= (p.Val441=) | |
| 11 | g.13728718A>C | CA379859497 | FAR1 | c.*317A>C (n.*317A>C) c.1492A>C (p.Ser498Arg) c.364A>C (p.Ser122Arg) c.1501A>C (p.Ser501Arg) c.1324A>C (p.Ser442Arg) | |
| 11 | g.13728718A>G | CA379859498 | FAR1 | c.*317A>G (n.*317A>G) c.1492A>G (p.Ser498Gly) c.364A>G (p.Ser122Gly) c.1501A>G (p.Ser501Gly) c.1324A>G (p.Ser442Gly) | |
| 11 | g.13728718A>T | CA379859499 | FAR1 | c.*317A>T (n.*317A>T) c.1492A>T (p.Ser498Cys) c.364A>T (p.Ser122Cys) c.1501A>T (p.Ser501Cys) c.1324A>T (p.Ser442Cys) | |
| 11 | g.13728719G>A | CA5893564 | FAR1 | c.*318G>A (n.*318G>A) c.1493G>A (p.Ser498Asn) c.365G>A (p.Ser122Asn) c.1502G>A (p.Ser501Asn) c.1325G>A (p.Ser442Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13728719G>C | CA379859500 | FAR1 | c.*318G>C (n.*318G>C) c.1493G>C (p.Ser498Thr) c.365G>C (p.Ser122Thr) c.1502G>C (p.Ser501Thr) c.1325G>C (p.Ser442Thr) | |
| 11 | g.13728719G= | CA1953439112 | FAR1 | c.*318G= (n.*318G=) c.1493G= (p.Ser498=) c.365G= (p.Ser122=) c.1502G= (p.Ser501=) c.1325G= (p.Ser442=) | |
| 11 | g.13728719G>T | CA379859501 | FAR1 | c.*318G>T (n.*318G>T) c.1493G>T (p.Ser498Ile) c.365G>T (p.Ser122Ile) c.1502G>T (p.Ser501Ile) c.1325G>T (p.Ser442Ile) | |
| 11 | g.13728720del | CA2573146273 | FAR1 | c.*319del (n.*319del) c.1494del (p.Leu499CysfsTer15) c.366del (p.Leu123CysfsTer15) c.1503del (p.Leu502CysfsTer15) c.1326del (p.Leu443CysfsTer15) | ClinVar dbSNP |
| 11 | g.13728720T>A | CA379859502 | FAR1 | c.*319T>A (n.*319T>A) c.1494T>A (p.Ser498Arg) c.366T>A (p.Ser122Arg) c.1503T>A (p.Ser501Arg) c.1326T>A (p.Ser442Arg) | |
| 11 | g.13728720T>C | CA473229178 | FAR1 | c.*319T>C (n.*319T>C) c.1494T>C (p.Ser498=) c.366T>C (p.Ser122=) c.1503T>C (p.Ser501=) c.1326T>C (p.Ser442=) | ClinVar gnomAD v4 |
| 11 | g.13728720T>G | CA379859503 | FAR1 | c.*319T>G (n.*319T>G) c.1494T>G (p.Ser498Arg) c.366T>G (p.Ser122Arg) c.1503T>G (p.Ser501Arg) c.1326T>G (p.Ser442Arg) | |
| 11 | g.13728721C>A | CA379859504 | FAR1 | c.*320C>A (n.*320C>A) c.1495C>A (p.Leu499Met) c.367C>A (p.Leu123Met) c.1504C>A (p.Leu502Met) c.1327C>A (p.Leu443Met) | |
| 11 | g.13728721C>G | CA379859505 | FAR1 | c.*320C>G (n.*320C>G) c.1495C>G (p.Leu499Val) c.367C>G (p.Leu123Val) c.1504C>G (p.Leu502Val) c.1327C>G (p.Leu443Val) | |
| 11 | g.13728721C>T | CA473229179 | FAR1 | c.*320C>T (n.*320C>T) c.1495C>T (p.Leu499=) c.367C>T (p.Leu123=) c.1504C>T (p.Leu502=) c.1327C>T (p.Leu443=) | |
| 11 | g.13728722T>A | CA379859506 | FAR1 | c.*321T>A (n.*321T>A) c.1496T>A (p.Leu499Gln) c.368T>A (p.Leu123Gln) c.1505T>A (p.Leu502Gln) c.1328T>A (p.Leu443Gln) | |
| 11 | g.13728722T>C | CA379859508 | FAR1 | c.*321T>C (n.*321T>C) c.1496T>C (p.Leu499Pro) c.368T>C (p.Leu123Pro) c.1505T>C (p.Leu502Pro) c.1328T>C (p.Leu443Pro) | |
| 11 | g.13728722T>G | CA379859507 | FAR1 | c.*321T>G (n.*321T>G) c.1496T>G (p.Leu499Arg) c.368T>G (p.Leu123Arg) c.1505T>G (p.Leu502Arg) c.1328T>G (p.Leu443Arg) | |
| 11 | g.13728723G>A | CA473229180 | FAR1 | c.*322G>A (n.*322G>A) c.1497G>A (p.Leu499=) c.369G>A (p.Leu123=) c.1506G>A (p.Leu502=) c.1329G>A (p.Leu443=) | ClinVar dbSNP |
| 11 | g.13728723G>C | CA473229181 | FAR1 | c.*322G>C (n.*322G>C) c.1497G>C (p.Leu499=) c.369G>C (p.Leu123=) c.1506G>C (p.Leu502=) c.1329G>C (p.Leu443=) | |
| 11 | g.13728723G>T | CA473229182 | FAR1 | c.*322G>T (n.*322G>T) c.1497G>T (p.Leu499=) c.369G>T (p.Leu123=) c.1506G>T (p.Leu502=) c.1329G>T (p.Leu443=) | |
| 11 | g.13728724T>A | CA379859509 | FAR1 | c.*323T>A (n.*323T>A) c.1498T>A (p.Cys500Ser) c.370T>A (p.Cys124Ser) c.1507T>A (p.Cys503Ser) c.1330T>A (p.Cys444Ser) | |
| 11 | g.13728724T>C | CA379859510 | FAR1 | c.*323T>C (n.*323T>C) c.1498T>C (p.Cys500Arg) c.370T>C (p.Cys124Arg) c.1507T>C (p.Cys503Arg) c.1330T>C (p.Cys444Arg) | |
| 11 | g.13728724T>G | CA379859511 | FAR1 | c.*323T>G (n.*323T>G) c.1498T>G (p.Cys500Gly) c.370T>G (p.Cys124Gly) c.1507T>G (p.Cys503Gly) c.1330T>G (p.Cys444Gly) | |
| 11 | g.13728725G>A | CA379859512 | FAR1 | c.*324G>A (n.*324G>A) c.1499G>A (p.Cys500Tyr) c.371G>A (p.Cys124Tyr) c.1508G>A (p.Cys503Tyr) c.1331G>A (p.Cys444Tyr) | |
| 11 | g.13728725G>C | CA379859513 | FAR1 | c.*324G>C (n.*324G>C) c.1499G>C (p.Cys500Ser) c.371G>C (p.Cys124Ser) c.1508G>C (p.Cys503Ser) c.1331G>C (p.Cys444Ser) | |
| 11 | g.13728725G>T | CA379859514 | FAR1 | c.*324G>T (n.*324G>T) c.1499G>T (p.Cys500Phe) c.371G>T (p.Cys124Phe) c.1508G>T (p.Cys503Phe) c.1331G>T (p.Cys444Phe) | |
| 11 | g.13728726T>A | CA379859515 | FAR1 | c.*325T>A (n.*325T>A) c.1500T>A (p.Cys500Ter) c.372T>A (p.Cys124Ter) c.1509T>A (p.Cys503Ter) c.1332T>A (p.Cys444Ter) | |
| 11 | g.13728726T>C | CA473229183 | FAR1 | c.*325T>C (n.*325T>C) c.1500T>C (p.Cys500=) c.372T>C (p.Cys124=) c.1509T>C (p.Cys503=) c.1332T>C (p.Cys444=) | |
| 11 | g.13728726T>G | CA379859516 | FAR1 | c.*325T>G (n.*325T>G) c.1500T>G (p.Cys500Trp) c.372T>G (p.Cys124Trp) c.1509T>G (p.Cys503Trp) c.1332T>G (p.Cys444Trp) | |
| 11 | g.13728727T>A | CA379859517 | FAR1 | c.*326T>A (n.*326T>A) c.1501T>A (p.Tyr501Asn) c.373T>A (p.Tyr125Asn) c.1510T>A (p.Tyr504Asn) c.1333T>A (p.Tyr445Asn) | |
| 11 | g.13728727T>C | CA379859518 | FAR1 | c.*326T>C (n.*326T>C) c.1501T>C (p.Tyr501His) c.373T>C (p.Tyr125His) c.1510T>C (p.Tyr504His) c.1333T>C (p.Tyr445His) | |
| 11 | g.13728727T>G | CA379859519 | FAR1 | c.*326T>G (n.*326T>G) c.1501T>G (p.Tyr501Asp) c.373T>G (p.Tyr125Asp) c.1510T>G (p.Tyr504Asp) c.1333T>G (p.Tyr445Asp) | |
| 11 | g.13728728A>C | CA379859520 | FAR1 | c.*327A>C (n.*327A>C) c.1502A>C (p.Tyr501Ser) c.374A>C (p.Tyr125Ser) c.1511A>C (p.Tyr504Ser) c.1334A>C (p.Tyr445Ser) | |
| 11 | g.13728728A>G | CA379859521 | FAR1 | c.*327A>G (n.*327A>G) c.1502A>G (p.Tyr501Cys) c.374A>G (p.Tyr125Cys) c.1511A>G (p.Tyr504Cys) c.1334A>G (p.Tyr445Cys) | |
| 11 | g.13728728A>T | CA379859522 | FAR1 | c.*327A>T (n.*327A>T) c.1502A>T (p.Tyr501Phe) c.374A>T (p.Tyr125Phe) c.1511A>T (p.Tyr504Phe) c.1334A>T (p.Tyr445Phe) | |
| 11 | g.13728729C>A | CA379859523 | FAR1 | c.*328C>A (n.*328C>A) c.1503C>A (p.Tyr501Ter) c.375C>A (p.Tyr125Ter) c.1512C>A (p.Tyr504Ter) c.1335C>A (p.Tyr445Ter) | |
| 11 | g.13728729C>G | CA379859524 | FAR1 | c.*328C>G (n.*328C>G) c.1503C>G (p.Tyr501Ter) c.375C>G (p.Tyr125Ter) c.1512C>G (p.Tyr504Ter) c.1335C>G (p.Tyr445Ter) | |
| 11 | g.13728729C>T | CA473229184 | FAR1 | c.*328C>T (n.*328C>T) c.1503C>T (p.Tyr501=) c.375C>T (p.Tyr125=) c.1512C>T (p.Tyr504=) c.1335C>T (p.Tyr445=) | |
| 11 | g.13728730A>C | CA379859525 | FAR1 | c.*329A>C (n.*329A>C) c.1504A>C (p.Lys502Gln) c.376A>C (p.Lys126Gln) c.1513A>C (p.Lys505Gln) c.1336A>C (p.Lys446Gln) | |
| 11 | g.13728730A>G | CA379859526 | FAR1 | c.*329A>G (n.*329A>G) c.1504A>G (p.Lys502Glu) c.376A>G (p.Lys126Glu) c.1513A>G (p.Lys505Glu) c.1336A>G (p.Lys446Glu) | |
| 11 | g.13728730A>T | CA379859527 | FAR1 | c.*329A>T (n.*329A>T) c.1504A>T (p.Lys502Ter) c.376A>T (p.Lys126Ter) c.1513A>T (p.Lys505Ter) c.1336A>T (p.Lys446Ter) | |
| 11 | g.13728731A>C | CA379859528 | FAR1 | c.*330A>C (n.*330A>C) c.1505A>C (p.Lys502Thr) c.377A>C (p.Lys126Thr) c.1514A>C (p.Lys505Thr) c.1337A>C (p.Lys446Thr) | |
| 11 | g.13728731A>G | CA379859529 | FAR1 | c.*330A>G (n.*330A>G) c.1505A>G (p.Lys502Arg) c.377A>G (p.Lys126Arg) c.1514A>G (p.Lys505Arg) c.1337A>G (p.Lys446Arg) | |
| 11 | g.13728731A>T | CA379859530 | FAR1 | c.*330A>T (n.*330A>T) c.1505A>T (p.Lys502Met) c.377A>T (p.Lys126Met) c.1514A>T (p.Lys505Met) c.1337A>T (p.Lys446Met) | |
| 11 | g.13728732G>A | CA473229185 | FAR1 | c.*331G>A (n.*331G>A) c.1506G>A (p.Lys502=) c.378G>A (p.Lys126=) c.1515G>A (p.Lys505=) c.1338G>A (p.Lys446=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13728732G>C | CA379859531 | FAR1 | c.*331G>C (n.*331G>C) c.1506G>C (p.Lys502Asn) c.378G>C (p.Lys126Asn) c.1515G>C (p.Lys505Asn) c.1338G>C (p.Lys446Asn) | |
| 11 | g.13728732G= | CA1953439113 | FAR1 | c.*331G= (n.*331G=) c.1506G= (p.Lys502=) c.378G= (p.Lys126=) c.1515G= (p.Lys505=) c.1338G= (p.Lys446=) | |
| 11 | g.13728732G>T | CA379859532 | FAR1 | c.*331G>T (n.*331G>T) c.1506G>T (p.Lys502Asn) c.378G>T (p.Lys126Asn) c.1515G>T (p.Lys505Asn) c.1338G>T (p.Lys446Asn) | |
| 11 | g.13728733T>A | CA379859533 | FAR1 | c.*332T>A (n.*332T>A) c.1507T>A (p.Phe503Ile) c.379T>A (p.Phe127Ile) c.1516T>A (p.Phe506Ile) c.1339T>A (p.Phe447Ile) | |
| 11 | g.13728733T>C | CA379859534 | FAR1 | c.*332T>C (n.*332T>C) c.1507T>C (p.Phe503Leu) c.379T>C (p.Phe127Leu) c.1516T>C (p.Phe506Leu) c.1339T>C (p.Phe447Leu) | |
| 11 | g.13728733T>G | CA379859535 | FAR1 | c.*332T>G (n.*332T>G) c.1507T>G (p.Phe503Val) c.379T>G (p.Phe127Val) c.1516T>G (p.Phe506Val) c.1339T>G (p.Phe447Val) | |
| 11 | g.13728734T>A | CA379859536 | FAR1 | c.*333T>A (n.*333T>A) c.1508T>A (p.Phe503Tyr) c.380T>A (p.Phe127Tyr) c.1517T>A (p.Phe506Tyr) c.1340T>A (p.Phe447Tyr) | |
| 11 | g.13728734T>C | CA379859538 | FAR1 | c.*333T>C (n.*333T>C) c.1508T>C (p.Phe503Ser) c.380T>C (p.Phe127Ser) c.1517T>C (p.Phe506Ser) c.1340T>C (p.Phe447Ser) | |
| 11 | g.13728734T>G | CA379859537 | FAR1 | c.*333T>G (n.*333T>G) c.1508T>G (p.Phe503Cys) c.380T>G (p.Phe127Cys) c.1517T>G (p.Phe506Cys) c.1340T>G (p.Phe447Cys) | |
| 11 | g.13728735T>A | CA379859539 | FAR1 | c.*334T>A (n.*334T>A) c.1509T>A (p.Phe503Leu) c.381T>A (p.Phe127Leu) c.1518T>A (p.Phe506Leu) c.1341T>A (p.Phe447Leu) | |
| 11 | g.13728735T>C | CA473229186 | FAR1 | c.*334T>C (n.*334T>C) c.1509T>C (p.Phe503=) c.381T>C (p.Phe127=) c.1518T>C (p.Phe506=) c.1341T>C (p.Phe447=) | |
| 11 | g.13728735T>G | CA379859540 | FAR1 | c.*334T>G (n.*334T>G) c.1509T>G (p.Phe503Leu) c.381T>G (p.Phe127Leu) c.1518T>G (p.Phe506Leu) c.1341T>G (p.Phe447Leu) | |
| 11 | g.13728736T>A | CA379859541 | FAR1 | c.*335T>A (n.*335T>A) c.1510T>A (p.Leu504Met) c.382T>A (p.Leu128Met) c.1519T>A (p.Leu507Met) c.1342T>A (p.Leu448Met) | |
| 11 | g.13728736T>C | CA473229187 | FAR1 | c.*335T>C (n.*335T>C) c.1510T>C (p.Leu504=) c.382T>C (p.Leu128=) c.1519T>C (p.Leu507=) c.1342T>C (p.Leu448=) | dbSNP |
| 11 | g.13728736T>G | CA379859542 | FAR1 | c.*335T>G (n.*335T>G) c.1510T>G (p.Leu504Val) c.382T>G (p.Leu128Val) c.1519T>G (p.Leu507Val) c.1342T>G (p.Leu448Val) | |
| 11 | g.13728737T>A | CA379859543 | FAR1 | c.*336T>A (n.*336T>A) c.1511T>A (p.Leu504Ter) c.383T>A (p.Leu128Ter) c.1520T>A (p.Leu507Ter) c.1343T>A (p.Leu448Ter) | |
| 11 | g.13728737T>C | CA379859545 | FAR1 | c.*336T>C (n.*336T>C) c.1511T>C (p.Leu504Ser) c.383T>C (p.Leu128Ser) c.1520T>C (p.Leu507Ser) c.1343T>C (p.Leu448Ser) | |
| 11 | g.13728737T>G | CA379859544 | FAR1 | c.*336T>G (n.*336T>G) c.1511T>G (p.Leu504Trp) c.383T>G (p.Leu128Trp) c.1520T>G (p.Leu507Trp) c.1343T>G (p.Leu448Trp) | ClinVar dbSNP |
| 11 | g.13728738_13728739del | CA2612565889 | FAR1 | c.*337_*338del (n.*337_*338del) c.1512_1513del (p.Leu504PhefsTer26) c.384_385del (p.Leu128PhefsTer26) c.1521_1522del (p.Leu507PhefsTer26) c.1344_1345del (p.Leu448PhefsTer26) | gnomAD v4 |
| 11 | g.13728738G>A | CA5893565 | FAR1 | c.*337G>A (n.*337G>A) c.1512G>A (p.Leu504=) c.384G>A (p.Leu128=) c.1521G>A (p.Leu507=) c.1344G>A (p.Leu448=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13728738G>C | CA379859546 | FAR1 | c.*337G>C (n.*337G>C) c.1512G>C (p.Leu504Phe) c.384G>C (p.Leu128Phe) c.1521G>C (p.Leu507Phe) c.1344G>C (p.Leu448Phe) | |
| 11 | g.13728738G= | CA1953439114 | FAR1 | c.*337G= (n.*337G=) c.1512G= (p.Leu504=) c.384G= (p.Leu128=) c.1521G= (p.Leu507=) c.1344G= (p.Leu448=) | |
| 11 | g.13728738G>T | CA379859547 | FAR1 | c.*337G>T (n.*337G>T) c.1512G>T (p.Leu504Phe) c.384G>T (p.Leu128Phe) c.1521G>T (p.Leu507Phe) c.1344G>T (p.Leu448Phe) | gnomAD v4 |
| 11 | g.13728739T>A | CA379859548 | FAR1 | c.*338T>A (n.*338T>A) c.1513T>A (p.Ser505Thr) c.385T>A (p.Ser129Thr) c.1522T>A (p.Ser508Thr) c.1345T>A (p.Ser449Thr) | |
| 11 | g.13728739T>C | CA379859549 | FAR1 | c.*338T>C (n.*338T>C) c.1513T>C (p.Ser505Pro) c.385T>C (p.Ser129Pro) c.1522T>C (p.Ser508Pro) c.1345T>C (p.Ser449Pro) | |
| 11 | g.13728739T>G | CA379859550 | FAR1 | c.*338T>G (n.*338T>G) c.1513T>G (p.Ser505Ala) c.385T>G (p.Ser129Ala) c.1522T>G (p.Ser508Ala) c.1345T>G (p.Ser449Ala) | |
| 11 | g.13728740C>A | CA379859553 | FAR1 | c.*339C>A (n.*339C>A) c.1514C>A (p.Ser505Ter) c.386C>A (p.Ser129Ter) c.1523C>A (p.Ser508Ter) c.1346C>A (p.Ser449Ter) | gnomAD v4 |
| 11 | g.13728740C>G | CA379859552 | FAR1 | c.*339C>G (n.*339C>G) c.1514C>G (p.Ser505Ter) c.386C>G (p.Ser129Ter) c.1523C>G (p.Ser508Ter) c.1346C>G (p.Ser449Ter) | |
| 11 | g.13728740C>T | CA379859551 | FAR1 | c.*339C>T (n.*339C>T) c.1514C>T (p.Ser505Leu) c.386C>T (p.Ser129Leu) c.1523C>T (p.Ser508Leu) c.1346C>T (p.Ser449Leu) | gnomAD v4 |
| 11 | g.13728741A= | CA1953439115 | FAR1 | c.*340A= (n.*340A=) c.1515A= (p.Ser505=) c.387A= (p.Ser129=) c.1524A= (p.Ser508=) c.1347A= (p.Ser449=) | |
| 11 | g.13728741A>C | CA473229191 | FAR1 | c.*340A>C (n.*340A>C) c.1515A>C (p.Ser505=) c.387A>C (p.Ser129=) c.1524A>C (p.Ser508=) c.1347A>C (p.Ser449=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13728741A>G | CA473229190 | FAR1 | c.*340A>G (n.*340A>G) c.1515A>G (p.Ser505=) c.387A>G (p.Ser129=) c.1524A>G (p.Ser508=) c.1347A>G (p.Ser449=) | gnomAD v4 |
| 11 | g.13728741A>T | CA473229189 | FAR1 | c.*340A>T (n.*340A>T) c.1515A>T (p.Ser505=) c.387A>T (p.Ser129=) c.1524A>T (p.Ser508=) c.1347A>T (p.Ser449=) | gnomAD v4 |
| 11 | g.13728742T>A | CA379859554 | FAR1 | c.*341T>A (n.*341T>A) c.1516T>A (p.Tyr506Asn) c.388T>A (p.Tyr130Asn) c.1525T>A (p.Tyr509Asn) c.1348T>A (p.Tyr450Asn) | |
| 11 | g.13728742T>C | CA379859555 | FAR1 | c.*341T>C (n.*341T>C) c.1516T>C (p.Tyr506His) c.388T>C (p.Tyr130His) c.1525T>C (p.Tyr509His) c.1348T>C (p.Tyr450His) | |
| 11 | g.13728742T>G | CA379859556 | FAR1 | c.*341T>G (n.*341T>G) c.1516T>G (p.Tyr506Asp) c.388T>G (p.Tyr130Asp) c.1525T>G (p.Tyr509Asp) c.1348T>G (p.Tyr450Asp) | |
| 11 | g.13728743A>C | CA379859557 | FAR1 | c.*342A>C (n.*342A>C) c.1517A>C (p.Tyr506Ser) c.389A>C (p.Tyr130Ser) c.1526A>C (p.Tyr509Ser) c.1349A>C (p.Tyr450Ser) | |
| 11 | g.13728743A>G | CA379859558 | FAR1 | c.*342A>G (n.*342A>G) c.1517A>G (p.Tyr506Cys) c.389A>G (p.Tyr130Cys) c.1526A>G (p.Tyr509Cys) c.1349A>G (p.Tyr450Cys) | |
| 11 | g.13728743A>T | CA379859559 | FAR1 | c.*342A>T (n.*342A>T) c.1517A>T (p.Tyr506Phe) c.389A>T (p.Tyr130Phe) c.1526A>T (p.Tyr509Phe) c.1349A>T (p.Tyr450Phe) | |
| 11 | g.13728744C>A | CA379859560 | FAR1 | c.*343C>A (n.*343C>A) c.1518C>A (p.Tyr506Ter) c.390C>A (p.Tyr130Ter) c.1527C>A (p.Tyr509Ter) c.1350C>A (p.Tyr450Ter) | gnomAD v4 |
| 11 | g.13728744C= | CA1953439116 | FAR1 | c.*343C= (n.*343C=) c.1518C= (p.Tyr506=) c.390C= (p.Tyr130=) c.1527C= (p.Tyr509=) c.1350C= (p.Tyr450=) | |
| 11 | g.13728744C>G | CA379859561 | FAR1 | c.*343C>G (n.*343C>G) c.1518C>G (p.Tyr506Ter) c.390C>G (p.Tyr130Ter) c.1527C>G (p.Tyr509Ter) c.1350C>G (p.Tyr450Ter) | |
| 11 | g.13728744C>T | CA218132530 | FAR1 | c.*343C>T (n.*343C>T) c.1518C>T (p.Tyr506=) c.390C>T (p.Tyr130=) c.1527C>T (p.Tyr509=) c.1350C>T (p.Tyr450=) | dbSNP |
| 11 | g.13728745T>A | CA379859562 | FAR1 | c.*344T>A (n.*344T>A) c.1519T>A (p.Phe507Ile) c.391T>A (p.Phe131Ile) c.1528T>A (p.Phe510Ile) c.1351T>A (p.Phe451Ile) | |
| 11 | g.13728745T>C | CA379859563 | FAR1 | c.*344T>C (n.*344T>C) c.1519T>C (p.Phe507Leu) c.391T>C (p.Phe131Leu) c.1528T>C (p.Phe510Leu) c.1351T>C (p.Phe451Leu) | |
| 11 | g.13728745T>G | CA379859564 | FAR1 | c.*344T>G (n.*344T>G) c.1519T>G (p.Phe507Val) c.391T>G (p.Phe131Val) c.1528T>G (p.Phe510Val) c.1351T>G (p.Phe451Val) | |
| 11 | g.13728746T>A | CA379859565 | FAR1 | c.*345T>A (n.*345T>A) c.1520T>A (p.Phe507Tyr) c.392T>A (p.Phe131Tyr) c.1529T>A (p.Phe510Tyr) c.1352T>A (p.Phe451Tyr) | |
| 11 | g.13728746T>C | CA218132531 | FAR1 | c.*345T>C (n.*345T>C) c.1520T>C (p.Phe507Ser) c.392T>C (p.Phe131Ser) c.1529T>C (p.Phe510Ser) c.1352T>C (p.Phe451Ser) | dbSNP |
| 11 | g.13728746T>G | CA379859566 | FAR1 | c.*345T>G (n.*345T>G) c.1520T>G (p.Phe507Cys) c.392T>G (p.Phe131Cys) c.1529T>G (p.Phe510Cys) c.1352T>G (p.Phe451Cys) | |
| 11 | g.13728746T= | CA1953439117 | FAR1 | c.*345T= (n.*345T=) c.1520T= (p.Phe507=) c.392T= (p.Phe131=) c.1529T= (p.Phe510=) c.1352T= (p.Phe451=) | |
| 11 | g.13728746_13728747delinsTC | CA1953439118 | FAR1 | c.*345_*346delinsTC (n.*345_*346delinsTC) c.1520_1521delinsTC (p.Phe507=) c.392_393delinsTC (p.Phe131=) c.1529_1530delinsTC (p.Phe510=) c.1352_1353delinsTC (p.Phe451=) | |
| 11 | g.13728747C>A | CA379859567 | FAR1 | c.*346C>A (n.*346C>A) c.1521C>A (p.Phe507Leu) c.393C>A (p.Phe131Leu) c.1530C>A (p.Phe510Leu) c.1353C>A (p.Phe451Leu) | |
| 11 | g.13728747C= | CA1953439119 | FAR1 | c.*346C= (n.*346C=) c.1521C= (p.Phe507=) c.393C= (p.Phe131=) c.1530C= (p.Phe510=) c.1353C= (p.Phe451=) | |
| 11 | g.13728747C>G | CA379859568 | FAR1 | c.*346C>G (n.*346C>G) c.1521C>G (p.Phe507Leu) c.393C>G (p.Phe131Leu) c.1530C>G (p.Phe510Leu) c.1353C>G (p.Phe451Leu) | |
| 11 | g.13728747C>T | CA5893566 | FAR1 | c.*346C>T (n.*346C>T) c.1521C>T (p.Phe507=) c.393C>T (p.Phe131=) c.1530C>T (p.Phe510=) c.1353C>T (p.Phe451=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.13728748del | CA673837935 | FAR1 | c.*347del (n.*347del) c.1522del (p.Arg508GlufsTer6) c.394del (p.Arg132GlufsTer6) c.1531del (p.Arg511GlufsTer6) c.1354del (p.Arg452GlufsTer6) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13728748C>A | CA473229193 | FAR1 | c.*347C>A (n.*347C>A) c.1522C>A (p.Arg508=) c.394C>A (p.Arg132=) c.1531C>A (p.Arg511=) c.1354C>A (p.Arg452=) | ClinVar dbSNP |
| 11 | g.13728748C= | CA1953439120 | FAR1 | c.*347C= (n.*347C=) c.1522C= (p.Arg508=) c.394C= (p.Arg132=) c.1531C= (p.Arg511=) c.1354C= (p.Arg452=) | |
| 11 | g.13728748C>G | CA379859569 | FAR1 | c.*347C>G (n.*347C>G) c.1522C>G (p.Arg508Gly) c.394C>G (p.Arg132Gly) c.1531C>G (p.Arg511Gly) c.1354C>G (p.Arg452Gly) | |
| 11 | g.13728748C>T | CA379859570 | FAR1 | c.*347C>T (n.*347C>T) c.1522C>T (p.Arg508Ter) c.394C>T (p.Arg132Ter) c.1531C>T (p.Arg511Ter) c.1354C>T (p.Arg452Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13728749G>A | CA218132532 | FAR1 | c.*348G>A (n.*348G>A) c.1523G>A (p.Arg508Gln) c.395G>A (p.Arg132Gln) c.1532G>A (p.Arg511Gln) c.1355G>A (p.Arg452Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.13728749G>C | CA379859572 | FAR1 | c.*348G>C (n.*348G>C) c.1523G>C (p.Arg508Pro) c.395G>C (p.Arg132Pro) c.1532G>C (p.Arg511Pro) c.1355G>C (p.Arg452Pro) | |
| 11 | g.13728749G= | CA1953439121 | FAR1 | c.*348G= (n.*348G=) c.1523G= (p.Arg508=) c.395G= (p.Arg132=) c.1532G= (p.Arg511=) c.1355G= (p.Arg452=) | |
| 11 | g.13728749G>T | CA379859571 | FAR1 | c.*348G>T (n.*348G>T) c.1523G>T (p.Arg508Leu) c.395G>T (p.Arg132Leu) c.1532G>T (p.Arg511Leu) c.1355G>T (p.Arg452Leu) | gnomAD v4 |
| 11 | g.13728750A= | CA1953439122 | FAR1 | c.*349A= (n.*349A=) c.1524A= (p.Arg508=) c.396A= (p.Arg132=) c.1533A= (p.Arg511=) c.1356A= (p.Arg452=) | |
| 11 | g.13728750A>C | CA5893567 | FAR1 | c.*349A>C (n.*349A>C) c.1524A>C (p.Arg508=) c.396A>C (p.Arg132=) c.1533A>C (p.Arg511=) c.1356A>C (p.Arg452=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13728750A>G | CA473229194 | FAR1 | c.*349A>G (n.*349A>G) c.1524A>G (p.Arg508=) c.396A>G (p.Arg132=) c.1533A>G (p.Arg511=) c.1356A>G (p.Arg452=) | |
| 11 | g.13728750A>T | CA473229195 | FAR1 | c.*349A>T (n.*349A>T) c.1524A>T (p.Arg508=) c.396A>T (p.Arg132=) c.1533A>T (p.Arg511=) c.1356A>T (p.Arg452=) | |
| 11 | g.13728751G>A | CA379859573 | FAR1 | c.*350G>A (n.*350G>A) c.1525G>A (p.Ala509Thr) c.397G>A (p.Ala133Thr) c.1534G>A (p.Ala512Thr) c.1357G>A (p.Ala453Thr) | |
| 11 | g.13728751G>C | CA379859574 | FAR1 | c.*350G>C (n.*350G>C) c.1525G>C (p.Ala509Pro) c.397G>C (p.Ala133Pro) c.1534G>C (p.Ala512Pro) c.1357G>C (p.Ala453Pro) | |
| 11 | g.13728751G>T | CA379859575 | FAR1 | c.*350G>T (n.*350G>T) c.1525G>T (p.Ala509Ser) c.397G>T (p.Ala133Ser) c.1534G>T (p.Ala512Ser) c.1357G>T (p.Ala453Ser) | |
| 11 | g.13728752C>A | CA379859576 | FAR1 | c.*351C>A (n.*351C>A) c.1526C>A (p.Ala509Glu) c.398C>A (p.Ala133Glu) c.1535C>A (p.Ala512Glu) c.1358C>A (p.Ala453Glu) | |
| 11 | g.13728752C>G | CA379859577 | FAR1 | c.*351C>G (n.*351C>G) c.1526C>G (p.Ala509Gly) c.398C>G (p.Ala133Gly) c.1535C>G (p.Ala512Gly) c.1358C>G (p.Ala453Gly) | |
| 11 | g.13728752C>T | CA379859578 | FAR1 | c.*351C>T (n.*351C>T) c.1526C>T (p.Ala509Val) c.398C>T (p.Ala133Val) c.1535C>T (p.Ala512Val) c.1358C>T (p.Ala453Val) | |
| 11 | g.13728753A= | CA1953439123 | FAR1 | c.*352A= (n.*352A=) c.1527A= (p.Ala509=) c.399A= (p.Ala133=) c.1536A= (p.Ala512=) c.1359A= (p.Ala453=) | |
| 11 | g.13728753A>C | CA473229196 | FAR1 | c.*352A>C (n.*352A>C) c.1527A>C (p.Ala509=) c.399A>C (p.Ala133=) c.1536A>C (p.Ala512=) c.1359A>C (p.Ala453=) | |
| 11 | g.13728753A>G | CA473229197 | FAR1 | c.*352A>G (n.*352A>G) c.1527A>G (p.Ala509=) c.399A>G (p.Ala133=) c.1536A>G (p.Ala512=) c.1359A>G (p.Ala453=) | |
| 11 | g.13728753A>T | CA218132533 | FAR1 | c.*352A>T (n.*352A>T) c.1527A>T (p.Ala509=) c.399A>T (p.Ala133=) c.1536A>T (p.Ala512=) c.1359A>T (p.Ala453=) | dbSNP |
| 11 | g.13728754T>A | CA379859579 | FAR1 | c.*353T>A (n.*353T>A) c.1528T>A (p.Ser510Thr) c.400T>A (p.Ser134Thr) c.1537T>A (p.Ser513Thr) c.1360T>A (p.Ser454Thr) | |
| 11 | g.13728754T>C | CA379859580 | FAR1 | c.*353T>C (n.*353T>C) c.1528T>C (p.Ser510Pro) c.400T>C (p.Ser134Pro) c.1537T>C (p.Ser513Pro) c.1360T>C (p.Ser454Pro) | |
| 11 | g.13728754T>G | CA379859581 | FAR1 | c.*353T>G (n.*353T>G) c.1528T>G (p.Ser510Ala) c.400T>G (p.Ser134Ala) c.1537T>G (p.Ser513Ala) c.1360T>G (p.Ser454Ala) | |
| 11 | g.13728755C>A | CA379859584 | FAR1 | c.*354C>A (n.*354C>A) c.1529C>A (p.Ser510Tyr) c.401C>A (p.Ser134Tyr) c.1538C>A (p.Ser513Tyr) c.1361C>A (p.Ser454Tyr) | |
| 11 | g.13728755C>G | CA379859583 | FAR1 | c.*354C>G (n.*354C>G) c.1529C>G (p.Ser510Cys) c.401C>G (p.Ser134Cys) c.1538C>G (p.Ser513Cys) c.1361C>G (p.Ser454Cys) | |
| 11 | g.13728755C>T | CA379859582 | FAR1 | c.*354C>T (n.*354C>T) c.1529C>T (p.Ser510Phe) c.401C>T (p.Ser134Phe) c.1538C>T (p.Ser513Phe) c.1361C>T (p.Ser454Phe) | |
| 11 | g.13728756C>A | CA473229198 | FAR1 | c.*355C>A (n.*355C>A) c.1530C>A (p.Ser510=) c.402C>A (p.Ser134=) c.1539C>A (p.Ser513=) c.1362C>A (p.Ser454=) | |
| 11 | g.13728756C>G | CA473229199 | FAR1 | c.*355C>G (n.*355C>G) c.1530C>G (p.Ser510=) c.402C>G (p.Ser134=) c.1539C>G (p.Ser513=) c.1362C>G (p.Ser454=) | |
| 11 | g.13728756C>T | CA473229200 | FAR1 | c.*355C>T (n.*355C>T) c.1530C>T (p.Ser510=) c.402C>T (p.Ser134=) c.1539C>T (p.Ser513=) c.1362C>T (p.Ser454=) | gnomAD v4 |
| 11 | g.13728757A>C | CA379859585 | FAR1 | c.*356A>C (n.*356A>C) c.1531A>C (p.Ser511Arg) c.403A>C (p.Ser135Arg) c.1540A>C (p.Ser514Arg) c.1363A>C (p.Ser455Arg) | |
| 11 | g.13728757A>G | CA379859586 | FAR1 | c.*356A>G (n.*356A>G) c.1531A>G (p.Ser511Gly) c.403A>G (p.Ser135Gly) c.1540A>G (p.Ser514Gly) c.1363A>G (p.Ser455Gly) | |
| 11 | g.13728757A>T | CA379859587 | FAR1 | c.*356A>T (n.*356A>T) c.1531A>T (p.Ser511Cys) c.403A>T (p.Ser135Cys) c.1540A>T (p.Ser514Cys) c.1363A>T (p.Ser455Cys) | |
| 11 | g.13728758G>A | CA379859588 | FAR1 | c.*357G>A (n.*357G>A) c.1532G>A (p.Ser511Asn) c.404G>A (p.Ser135Asn) c.1541G>A (p.Ser514Asn) c.1364G>A (p.Ser455Asn) | |
| 11 | g.13728758G>C | CA379859589 | FAR1 | c.*357G>C (n.*357G>C) c.1532G>C (p.Ser511Thr) c.404G>C (p.Ser135Thr) c.1541G>C (p.Ser514Thr) c.1364G>C (p.Ser455Thr) | |
| 11 | g.13728758G>T | CA379859590 | FAR1 | c.*357G>T (n.*357G>T) c.1532G>T (p.Ser511Ile) c.404G>T (p.Ser135Ile) c.1541G>T (p.Ser514Ile) c.1364G>T (p.Ser455Ile) | |
| 11 | g.13728759C>A | CA379859591 | FAR1 | c.*358C>A (n.*358C>A) c.1533C>A (p.Ser511Arg) c.405C>A (p.Ser135Arg) c.1542C>A (p.Ser514Arg) c.1365C>A (p.Ser455Arg) | |
| 11 | g.13728759C>G | CA379859592 | FAR1 | c.*358C>G (n.*358C>G) c.1533C>G (p.Ser511Arg) c.405C>G (p.Ser135Arg) c.1542C>G (p.Ser514Arg) c.1365C>G (p.Ser455Arg) | |
| 11 | g.13728759C>T | CA473229201 | FAR1 | c.*358C>T (n.*358C>T) c.1533C>T (p.Ser511=) c.405C>T (p.Ser135=) c.1542C>T (p.Ser514=) c.1365C>T (p.Ser455=) | gnomAD v3 gnomAD v4 |
| 11 | g.13728760A>C | CA379859593 | FAR1 | c.*359A>C (n.*359A>C) c.1534A>C (p.Thr512Pro) c.406A>C (p.Thr136Pro) c.1543A>C (p.Thr515Pro) c.1366A>C (p.Thr456Pro) | |
| 11 | g.13728760A>G | CA379859594 | FAR1 | c.*359A>G (n.*359A>G) c.1534A>G (p.Thr512Ala) c.406A>G (p.Thr136Ala) c.1543A>G (p.Thr515Ala) c.1366A>G (p.Thr456Ala) | |
| 11 | g.13728760A>T | CA379859595 | FAR1 | c.*359A>T (n.*359A>T) c.1534A>T (p.Thr512Ser) c.406A>T (p.Thr136Ser) c.1543A>T (p.Thr515Ser) c.1366A>T (p.Thr456Ser) | |
| 11 | g.13728761C>A | CA379859598 | FAR1 | c.*360C>A (n.*360C>A) c.1535C>A (p.Thr512Asn) c.407C>A (p.Thr136Asn) c.1544C>A (p.Thr515Asn) c.1367C>A (p.Thr456Asn) | |
| 11 | g.13728761C>G | CA379859597 | FAR1 | c.*360C>G (n.*360C>G) c.1535C>G (p.Thr512Ser) c.407C>G (p.Thr136Ser) c.1544C>G (p.Thr515Ser) c.1367C>G (p.Thr456Ser) | |
| 11 | g.13728761C>T | CA379859596 | FAR1 | c.*360C>T (n.*360C>T) c.1535C>T (p.Thr512Ile) c.407C>T (p.Thr136Ile) c.1544C>T (p.Thr515Ile) c.1367C>T (p.Thr456Ile) | |
| 11 | g.13728762T>A | CA473229204 | FAR1 | c.*361T>A (n.*361T>A) c.1536T>A (p.Thr512=) c.408T>A (p.Thr136=) c.1545T>A (p.Thr515=) c.1368T>A (p.Thr456=) | |
| 11 | g.13728762T>C | CA473229202 | FAR1 | c.*361T>C (n.*361T>C) c.1536T>C (p.Thr512=) c.408T>C (p.Thr136=) c.1545T>C (p.Thr515=) c.1368T>C (p.Thr456=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.13728762T>G | CA473229203 | FAR1 | c.*361T>G (n.*361T>G) c.1536T>G (p.Thr512=) c.408T>G (p.Thr136=) c.1545T>G (p.Thr515=) c.1368T>G (p.Thr456=) | dbSNP gnomAD v2 |
| 11 | g.13728762T= | CA1953439124 | FAR1 | c.*361T= (n.*361T=) c.1536T= (p.Thr512=) c.408T= (p.Thr136=) c.1545T= (p.Thr515=) c.1368T= (p.Thr456=) | |
| 11 | g.13728763A= | CA1953439125 | FAR1 | c.*362A= (n.*362A=) c.1537A= (p.Met513=) c.409A= (p.Met137=) c.1546A= (p.Met516=) c.1369A= (p.Met457=) | |
| 11 | g.13728763A>C | CA379859599 | FAR1 | c.*362A>C (n.*362A>C) c.1537A>C (p.Met513Leu) c.409A>C (p.Met137Leu) c.1546A>C (p.Met516Leu) c.1369A>C (p.Met457Leu) | |
| 11 | g.13728763A>G | CA379859600 | FAR1 | c.*362A>G (n.*362A>G) c.1537A>G (p.Met513Val) c.409A>G (p.Met137Val) c.1546A>G (p.Met516Val) c.1369A>G (p.Met457Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13728763A>T | CA379859601 | FAR1 | c.*362A>T (n.*362A>T) c.1537A>T (p.Met513Leu) c.409A>T (p.Met137Leu) c.1546A>T (p.Met516Leu) c.1369A>T (p.Met457Leu) | |
| 11 | g.13728764T>A | CA379859602 | FAR1 | c.*363T>A (n.*363T>A) c.1538T>A (p.Met513Lys) c.410T>A (p.Met137Lys) c.1547T>A (p.Met516Lys) c.1370T>A (p.Met457Lys) | |
| 11 | g.13728764T>C | CA379859603 | FAR1 | c.*363T>C (n.*363T>C) c.1538T>C (p.Met513Thr) c.410T>C (p.Met137Thr) c.1547T>C (p.Met516Thr) c.1370T>C (p.Met457Thr) | |
| 11 | g.13728764T>G | CA379859604 | FAR1 | c.*363T>G (n.*363T>G) c.1538T>G (p.Met513Arg) c.410T>G (p.Met137Arg) c.1547T>G (p.Met516Arg) c.1370T>G (p.Met457Arg) |