WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.39309586G>A | CA6510226 | KIF21A | c.4277C>T (p.Thr1426Met) c.4214C>T (p.Thr1405Met) c.4238C>T (p.Thr1413Met) c.4118C>T (p.Thr1373Met) c.4166C>T (p.Thr1389Met) n.1591C>T c.1220C>T (p.Thr407Met) c.2179C>T c.4280C>T (p.Thr1427Met) c.4265C>T (p.Thr1422Met) c.4259C>T (p.Thr1420Met) c.4241C>T (p.Thr1414Met) c.4226C>T (p.Thr1409Met) c.4151C>T (p.Thr1384Met) c.4136C>T (p.Thr1379Met) c.4097C>T (p.Thr1366Met) c.4220C>T (p.Thr1407Met) c.4148C>T (p.Thr1383Met) c.4205C>T (p.Thr1402Met) c.4211C>T (p.Thr1404Met) c.4187C>T (p.Thr1396Met) c.4076C>T (p.Thr1359Met) c.4058C>T (p.Thr1353Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.39309586G>C | CA384386742 | KIF21A | c.4277C>G (p.Thr1426Arg) c.4214C>G (p.Thr1405Arg) c.4238C>G (p.Thr1413Arg) c.4118C>G (p.Thr1373Arg) c.4166C>G (p.Thr1389Arg) n.1591C>G c.1220C>G (p.Thr407Arg) c.2179C>G c.4280C>G (p.Thr1427Arg) c.4265C>G (p.Thr1422Arg) c.4259C>G (p.Thr1420Arg) c.4241C>G (p.Thr1414Arg) c.4226C>G (p.Thr1409Arg) c.4151C>G (p.Thr1384Arg) c.4136C>G (p.Thr1379Arg) c.4097C>G (p.Thr1366Arg) c.4220C>G (p.Thr1407Arg) c.4148C>G (p.Thr1383Arg) c.4205C>G (p.Thr1402Arg) c.4211C>G (p.Thr1404Arg) c.4187C>G (p.Thr1396Arg) c.4076C>G (p.Thr1359Arg) c.4058C>G (p.Thr1353Arg) | |
| 12 | g.39309586G= | CA2030565385 | KIF21A | c.4277C= (p.Thr1426=) c.4214C= (p.Thr1405=) c.4238C= (p.Thr1413=) c.4118C= (p.Thr1373=) c.4166C= (p.Thr1389=) n.1591C= c.1220C= (p.Thr407=) c.2179C= c.4280C= (p.Thr1427=) c.4265C= (p.Thr1422=) c.4259C= (p.Thr1420=) c.4241C= (p.Thr1414=) c.4226C= (p.Thr1409=) c.4151C= (p.Thr1384=) c.4136C= (p.Thr1379=) c.4097C= (p.Thr1366=) c.4220C= (p.Thr1407=) c.4148C= (p.Thr1383=) c.4205C= (p.Thr1402=) c.4211C= (p.Thr1404=) c.4187C= (p.Thr1396=) c.4076C= (p.Thr1359=) c.4058C= (p.Thr1353=) | |
| 12 | g.39309586G>T | CA384386740 | KIF21A | c.4277C>A (p.Thr1426Lys) c.4214C>A (p.Thr1405Lys) c.4238C>A (p.Thr1413Lys) c.4118C>A (p.Thr1373Lys) c.4166C>A (p.Thr1389Lys) n.1591C>A c.1220C>A (p.Thr407Lys) c.2179C>A c.4280C>A (p.Thr1427Lys) c.4265C>A (p.Thr1422Lys) c.4259C>A (p.Thr1420Lys) c.4241C>A (p.Thr1414Lys) c.4226C>A (p.Thr1409Lys) c.4151C>A (p.Thr1384Lys) c.4136C>A (p.Thr1379Lys) c.4097C>A (p.Thr1366Lys) c.4220C>A (p.Thr1407Lys) c.4148C>A (p.Thr1383Lys) c.4205C>A (p.Thr1402Lys) c.4211C>A (p.Thr1404Lys) c.4187C>A (p.Thr1396Lys) c.4076C>A (p.Thr1359Lys) c.4058C>A (p.Thr1353Lys) | gnomAD v4 |
| 12 | g.39309587T>A | CA384386745 | KIF21A | c.4276A>T (p.Thr1426Ser) c.4213A>T (p.Thr1405Ser) c.4237A>T (p.Thr1413Ser) c.4117A>T (p.Thr1373Ser) c.4165A>T (p.Thr1389Ser) n.1590A>T c.1219A>T (p.Thr407Ser) c.2178A>T c.4279A>T (p.Thr1427Ser) c.4264A>T (p.Thr1422Ser) c.4258A>T (p.Thr1420Ser) c.4240A>T (p.Thr1414Ser) c.4225A>T (p.Thr1409Ser) c.4150A>T (p.Thr1384Ser) c.4135A>T (p.Thr1379Ser) c.4096A>T (p.Thr1366Ser) c.4219A>T (p.Thr1407Ser) c.4147A>T (p.Thr1383Ser) c.4204A>T (p.Thr1402Ser) c.4210A>T (p.Thr1404Ser) c.4186A>T (p.Thr1396Ser) c.4075A>T (p.Thr1359Ser) c.4057A>T (p.Thr1353Ser) | |
| 12 | g.39309587T>C | CA384386747 | KIF21A | c.4276A>G (p.Thr1426Ala) c.4213A>G (p.Thr1405Ala) c.4237A>G (p.Thr1413Ala) c.4117A>G (p.Thr1373Ala) c.4165A>G (p.Thr1389Ala) n.1590A>G c.1219A>G (p.Thr407Ala) c.2178A>G c.4279A>G (p.Thr1427Ala) c.4264A>G (p.Thr1422Ala) c.4258A>G (p.Thr1420Ala) c.4240A>G (p.Thr1414Ala) c.4225A>G (p.Thr1409Ala) c.4150A>G (p.Thr1384Ala) c.4135A>G (p.Thr1379Ala) c.4096A>G (p.Thr1366Ala) c.4219A>G (p.Thr1407Ala) c.4147A>G (p.Thr1383Ala) c.4204A>G (p.Thr1402Ala) c.4210A>G (p.Thr1404Ala) c.4186A>G (p.Thr1396Ala) c.4075A>G (p.Thr1359Ala) c.4057A>G (p.Thr1353Ala) | |
| 12 | g.39309587T>G | CA384386749 | KIF21A | c.4276A>C (p.Thr1426Pro) c.4213A>C (p.Thr1405Pro) c.4237A>C (p.Thr1413Pro) c.4117A>C (p.Thr1373Pro) c.4165A>C (p.Thr1389Pro) n.1590A>C c.1219A>C (p.Thr407Pro) c.2178A>C c.4279A>C (p.Thr1427Pro) c.4264A>C (p.Thr1422Pro) c.4258A>C (p.Thr1420Pro) c.4240A>C (p.Thr1414Pro) c.4225A>C (p.Thr1409Pro) c.4150A>C (p.Thr1384Pro) c.4135A>C (p.Thr1379Pro) c.4096A>C (p.Thr1366Pro) c.4219A>C (p.Thr1407Pro) c.4147A>C (p.Thr1383Pro) c.4204A>C (p.Thr1402Pro) c.4210A>C (p.Thr1404Pro) c.4186A>C (p.Thr1396Pro) c.4075A>C (p.Thr1359Pro) c.4057A>C (p.Thr1353Pro) | |
| 12 | g.39309588del | CA2618258888 | KIF21A | c.4276del (p.Thr1426ArgfsTer20) c.4213del (p.Thr1405ArgfsTer20) c.4237del (p.Thr1413ArgfsTer20) c.4117del (p.Thr1373ArgfsTer20) c.4165del (p.Thr1389ArgfsTer20) n.1590del c.1219del (p.Thr407ArgfsTer20) c.2178del c.4279del (p.Thr1427ArgfsTer20) c.4264del (p.Thr1422ArgfsTer20) c.4258del (p.Thr1420ArgfsTer20) c.4240del (p.Thr1414ArgfsTer20) c.4225del (p.Thr1409ArgfsTer20) c.4150del (p.Thr1384ArgfsTer20) c.4135del (p.Thr1379ArgfsTer20) c.4096del (p.Thr1366ArgfsTer20) c.4219del (p.Thr1407ArgfsTer20) c.4147del (p.Thr1383ArgfsTer20) c.4204del (p.Thr1402ArgfsTer20) c.4210del (p.Thr1404ArgfsTer20) c.4186del (p.Thr1396ArgfsTer20) c.4075del (p.Thr1359ArgfsTer20) c.4057del (p.Thr1353ArgfsTer20) | gnomAD v4 |
| 12 | g.39309588T>A | CA479233343 | KIF21A | c.4275A>T (p.Leu1425=) c.4212A>T (p.Leu1404=) c.4236A>T (p.Leu1412=) c.4116A>T (p.Leu1372=) c.4164A>T (p.Leu1388=) n.1589A>T c.1218A>T (p.Leu406=) c.2177A>T c.4278A>T (p.Leu1426=) c.4263A>T (p.Leu1421=) c.4257A>T (p.Leu1419=) c.4239A>T (p.Leu1413=) c.4224A>T (p.Leu1408=) c.4149A>T (p.Leu1383=) c.4134A>T (p.Leu1378=) c.4095A>T (p.Leu1365=) c.4218A>T (p.Leu1406=) c.4146A>T (p.Leu1382=) c.4203A>T (p.Leu1401=) c.4209A>T (p.Leu1403=) c.4185A>T (p.Leu1395=) c.4074A>T (p.Leu1358=) c.4056A>T (p.Leu1352=) | |
| 12 | g.39309588T>C | CA479233344 | KIF21A | c.4275A>G (p.Leu1425=) c.4212A>G (p.Leu1404=) c.4236A>G (p.Leu1412=) c.4116A>G (p.Leu1372=) c.4164A>G (p.Leu1388=) n.1589A>G c.1218A>G (p.Leu406=) c.2177A>G c.4278A>G (p.Leu1426=) c.4263A>G (p.Leu1421=) c.4257A>G (p.Leu1419=) c.4239A>G (p.Leu1413=) c.4224A>G (p.Leu1408=) c.4149A>G (p.Leu1383=) c.4134A>G (p.Leu1378=) c.4095A>G (p.Leu1365=) c.4218A>G (p.Leu1406=) c.4146A>G (p.Leu1382=) c.4203A>G (p.Leu1401=) c.4209A>G (p.Leu1403=) c.4185A>G (p.Leu1395=) c.4074A>G (p.Leu1358=) c.4056A>G (p.Leu1352=) | gnomAD v4 |
| 12 | g.39309588T>G | CA479233345 | KIF21A | c.4275A>C (p.Leu1425=) c.4212A>C (p.Leu1404=) c.4236A>C (p.Leu1412=) c.4116A>C (p.Leu1372=) c.4164A>C (p.Leu1388=) n.1589A>C c.1218A>C (p.Leu406=) c.2177A>C c.4278A>C (p.Leu1426=) c.4263A>C (p.Leu1421=) c.4257A>C (p.Leu1419=) c.4239A>C (p.Leu1413=) c.4224A>C (p.Leu1408=) c.4149A>C (p.Leu1383=) c.4134A>C (p.Leu1378=) c.4095A>C (p.Leu1365=) c.4218A>C (p.Leu1406=) c.4146A>C (p.Leu1382=) c.4203A>C (p.Leu1401=) c.4209A>C (p.Leu1403=) c.4185A>C (p.Leu1395=) c.4074A>C (p.Leu1358=) c.4056A>C (p.Leu1352=) | |
| 12 | g.39309589A>C | CA384386751 | KIF21A | c.4274T>G (p.Leu1425Arg) c.4211T>G (p.Leu1404Arg) c.4235T>G (p.Leu1412Arg) c.4115T>G (p.Leu1372Arg) c.4163T>G (p.Leu1388Arg) n.1588T>G c.1217T>G (p.Leu406Arg) c.2176T>G c.4277T>G (p.Leu1426Arg) c.4262T>G (p.Leu1421Arg) c.4256T>G (p.Leu1419Arg) c.4238T>G (p.Leu1413Arg) c.4223T>G (p.Leu1408Arg) c.4148T>G (p.Leu1383Arg) c.4133T>G (p.Leu1378Arg) c.4094T>G (p.Leu1365Arg) c.4217T>G (p.Leu1406Arg) c.4145T>G (p.Leu1382Arg) c.4202T>G (p.Leu1401Arg) c.4208T>G (p.Leu1403Arg) c.4184T>G (p.Leu1395Arg) c.4073T>G (p.Leu1358Arg) c.4055T>G (p.Leu1352Arg) | |
| 12 | g.39309589A>G | CA384386753 | KIF21A | c.4274T>C (p.Leu1425Pro) c.4211T>C (p.Leu1404Pro) c.4235T>C (p.Leu1412Pro) c.4115T>C (p.Leu1372Pro) c.4163T>C (p.Leu1388Pro) n.1588T>C c.1217T>C (p.Leu406Pro) c.2176T>C c.4277T>C (p.Leu1426Pro) c.4262T>C (p.Leu1421Pro) c.4256T>C (p.Leu1419Pro) c.4238T>C (p.Leu1413Pro) c.4223T>C (p.Leu1408Pro) c.4148T>C (p.Leu1383Pro) c.4133T>C (p.Leu1378Pro) c.4094T>C (p.Leu1365Pro) c.4217T>C (p.Leu1406Pro) c.4145T>C (p.Leu1382Pro) c.4202T>C (p.Leu1401Pro) c.4208T>C (p.Leu1403Pro) c.4184T>C (p.Leu1395Pro) c.4073T>C (p.Leu1358Pro) c.4055T>C (p.Leu1352Pro) | |
| 12 | g.39309589A>T | CA384386754 | KIF21A | c.4274T>A (p.Leu1425Gln) c.4211T>A (p.Leu1404Gln) c.4235T>A (p.Leu1412Gln) c.4115T>A (p.Leu1372Gln) c.4163T>A (p.Leu1388Gln) n.1588T>A c.1217T>A (p.Leu406Gln) c.2176T>A c.4277T>A (p.Leu1426Gln) c.4262T>A (p.Leu1421Gln) c.4256T>A (p.Leu1419Gln) c.4238T>A (p.Leu1413Gln) c.4223T>A (p.Leu1408Gln) c.4148T>A (p.Leu1383Gln) c.4133T>A (p.Leu1378Gln) c.4094T>A (p.Leu1365Gln) c.4217T>A (p.Leu1406Gln) c.4145T>A (p.Leu1382Gln) c.4202T>A (p.Leu1401Gln) c.4208T>A (p.Leu1403Gln) c.4184T>A (p.Leu1395Gln) c.4073T>A (p.Leu1358Gln) c.4055T>A (p.Leu1352Gln) | |
| 12 | g.39309590G>A | CA479233346 | KIF21A | c.4273C>T (p.Leu1425=) c.4210C>T (p.Leu1404=) c.4234C>T (p.Leu1412=) c.4114C>T (p.Leu1372=) c.4162C>T (p.Leu1388=) n.1587C>T c.1216C>T (p.Leu406=) c.2175C>T c.4276C>T (p.Leu1426=) c.4261C>T (p.Leu1421=) c.4255C>T (p.Leu1419=) c.4237C>T (p.Leu1413=) c.4222C>T (p.Leu1408=) c.4147C>T (p.Leu1383=) c.4132C>T (p.Leu1378=) c.4093C>T (p.Leu1365=) c.4216C>T (p.Leu1406=) c.4144C>T (p.Leu1382=) c.4201C>T (p.Leu1401=) c.4207C>T (p.Leu1403=) c.4183C>T (p.Leu1395=) c.4072C>T (p.Leu1358=) c.4054C>T (p.Leu1352=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.39309590G>C | CA384386758 | KIF21A | c.4273C>G (p.Leu1425Val) c.4210C>G (p.Leu1404Val) c.4234C>G (p.Leu1412Val) c.4114C>G (p.Leu1372Val) c.4162C>G (p.Leu1388Val) n.1587C>G c.1216C>G (p.Leu406Val) c.2175C>G c.4276C>G (p.Leu1426Val) c.4261C>G (p.Leu1421Val) c.4255C>G (p.Leu1419Val) c.4237C>G (p.Leu1413Val) c.4222C>G (p.Leu1408Val) c.4147C>G (p.Leu1383Val) c.4132C>G (p.Leu1378Val) c.4093C>G (p.Leu1365Val) c.4216C>G (p.Leu1406Val) c.4144C>G (p.Leu1382Val) c.4201C>G (p.Leu1401Val) c.4207C>G (p.Leu1403Val) c.4183C>G (p.Leu1395Val) c.4072C>G (p.Leu1358Val) c.4054C>G (p.Leu1352Val) | dbSNP |
| 12 | g.39309590G= | CA2030565397 | KIF21A | c.4273C= (p.Leu1425=) c.4210C= (p.Leu1404=) c.4234C= (p.Leu1412=) c.4114C= (p.Leu1372=) c.4162C= (p.Leu1388=) n.1587C= c.1216C= (p.Leu406=) c.2175C= c.4276C= (p.Leu1426=) c.4261C= (p.Leu1421=) c.4255C= (p.Leu1419=) c.4237C= (p.Leu1413=) c.4222C= (p.Leu1408=) c.4147C= (p.Leu1383=) c.4132C= (p.Leu1378=) c.4093C= (p.Leu1365=) c.4216C= (p.Leu1406=) c.4144C= (p.Leu1382=) c.4201C= (p.Leu1401=) c.4207C= (p.Leu1403=) c.4183C= (p.Leu1395=) c.4072C= (p.Leu1358=) c.4054C= (p.Leu1352=) | |
| 12 | g.39309590G>T | CA384386756 | KIF21A | c.4273C>A (p.Leu1425Ile) c.4210C>A (p.Leu1404Ile) c.4234C>A (p.Leu1412Ile) c.4114C>A (p.Leu1372Ile) c.4162C>A (p.Leu1388Ile) n.1587C>A c.1216C>A (p.Leu406Ile) c.2175C>A c.4276C>A (p.Leu1426Ile) c.4261C>A (p.Leu1421Ile) c.4255C>A (p.Leu1419Ile) c.4237C>A (p.Leu1413Ile) c.4222C>A (p.Leu1408Ile) c.4147C>A (p.Leu1383Ile) c.4132C>A (p.Leu1378Ile) c.4093C>A (p.Leu1365Ile) c.4216C>A (p.Leu1406Ile) c.4144C>A (p.Leu1382Ile) c.4201C>A (p.Leu1401Ile) c.4207C>A (p.Leu1403Ile) c.4183C>A (p.Leu1395Ile) c.4072C>A (p.Leu1358Ile) c.4054C>A (p.Leu1352Ile) | gnomAD v4 |
| 12 | g.39309591T>A | CA479233348 | KIF21A | c.4272A>T (p.Thr1424=) c.4209A>T (p.Thr1403=) c.4233A>T (p.Thr1411=) c.4113A>T (p.Thr1371=) c.4161A>T (p.Thr1387=) n.1586A>T c.1215A>T (p.Thr405=) c.2174A>T c.4275A>T (p.Thr1425=) c.4260A>T (p.Thr1420=) c.4254A>T (p.Thr1418=) c.4236A>T (p.Thr1412=) c.4221A>T (p.Thr1407=) c.4146A>T (p.Thr1382=) c.4131A>T (p.Thr1377=) c.4092A>T (p.Thr1364=) c.4215A>T (p.Thr1405=) c.4143A>T (p.Thr1381=) c.4200A>T (p.Thr1400=) c.4206A>T (p.Thr1402=) c.4182A>T (p.Thr1394=) c.4071A>T (p.Thr1357=) c.4053A>T (p.Thr1351=) | |
| 12 | g.39309591T>C | CA479233349 | KIF21A | c.4272A>G (p.Thr1424=) c.4209A>G (p.Thr1403=) c.4233A>G (p.Thr1411=) c.4113A>G (p.Thr1371=) c.4161A>G (p.Thr1387=) n.1586A>G c.1215A>G (p.Thr405=) c.2174A>G c.4275A>G (p.Thr1425=) c.4260A>G (p.Thr1420=) c.4254A>G (p.Thr1418=) c.4236A>G (p.Thr1412=) c.4221A>G (p.Thr1407=) c.4146A>G (p.Thr1382=) c.4131A>G (p.Thr1377=) c.4092A>G (p.Thr1364=) c.4215A>G (p.Thr1405=) c.4143A>G (p.Thr1381=) c.4200A>G (p.Thr1400=) c.4206A>G (p.Thr1402=) c.4182A>G (p.Thr1394=) c.4071A>G (p.Thr1357=) c.4053A>G (p.Thr1351=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.39309591T>G | CA479233347 | KIF21A | c.4272A>C (p.Thr1424=) c.4209A>C (p.Thr1403=) c.4233A>C (p.Thr1411=) c.4113A>C (p.Thr1371=) c.4161A>C (p.Thr1387=) n.1586A>C c.1215A>C (p.Thr405=) c.2174A>C c.4275A>C (p.Thr1425=) c.4260A>C (p.Thr1420=) c.4254A>C (p.Thr1418=) c.4236A>C (p.Thr1412=) c.4221A>C (p.Thr1407=) c.4146A>C (p.Thr1382=) c.4131A>C (p.Thr1377=) c.4092A>C (p.Thr1364=) c.4215A>C (p.Thr1405=) c.4143A>C (p.Thr1381=) c.4200A>C (p.Thr1400=) c.4206A>C (p.Thr1402=) c.4182A>C (p.Thr1394=) c.4071A>C (p.Thr1357=) c.4053A>C (p.Thr1351=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.39309591T= | CA2030565407 | KIF21A | c.4272A= (p.Thr1424=) c.4209A= (p.Thr1403=) c.4233A= (p.Thr1411=) c.4113A= (p.Thr1371=) c.4161A= (p.Thr1387=) n.1586A= c.1215A= (p.Thr405=) c.2174A= c.4275A= (p.Thr1425=) c.4260A= (p.Thr1420=) c.4254A= (p.Thr1418=) c.4236A= (p.Thr1412=) c.4221A= (p.Thr1407=) c.4146A= (p.Thr1382=) c.4131A= (p.Thr1377=) c.4092A= (p.Thr1364=) c.4215A= (p.Thr1405=) c.4143A= (p.Thr1381=) c.4200A= (p.Thr1400=) c.4206A= (p.Thr1402=) c.4182A= (p.Thr1394=) c.4071A= (p.Thr1357=) c.4053A= (p.Thr1351=) | |
| 12 | g.39309592G>A | CA384386761 | KIF21A | c.4271C>T (p.Thr1424Ile) c.4208C>T (p.Thr1403Ile) c.4232C>T (p.Thr1411Ile) c.4112C>T (p.Thr1371Ile) c.4160C>T (p.Thr1387Ile) n.1585C>T c.1214C>T (p.Thr405Ile) c.2173C>T c.4274C>T (p.Thr1425Ile) c.4259C>T (p.Thr1420Ile) c.4253C>T (p.Thr1418Ile) c.4235C>T (p.Thr1412Ile) c.4220C>T (p.Thr1407Ile) c.4145C>T (p.Thr1382Ile) c.4130C>T (p.Thr1377Ile) c.4091C>T (p.Thr1364Ile) c.4214C>T (p.Thr1405Ile) c.4142C>T (p.Thr1381Ile) c.4199C>T (p.Thr1400Ile) c.4205C>T (p.Thr1402Ile) c.4181C>T (p.Thr1394Ile) c.4070C>T (p.Thr1357Ile) c.4052C>T (p.Thr1351Ile) | |
| 12 | g.39309592G>C | CA384386763 | KIF21A | c.4271C>G (p.Thr1424Arg) c.4208C>G (p.Thr1403Arg) c.4232C>G (p.Thr1411Arg) c.4112C>G (p.Thr1371Arg) c.4160C>G (p.Thr1387Arg) n.1585C>G c.1214C>G (p.Thr405Arg) c.2173C>G c.4274C>G (p.Thr1425Arg) c.4259C>G (p.Thr1420Arg) c.4253C>G (p.Thr1418Arg) c.4235C>G (p.Thr1412Arg) c.4220C>G (p.Thr1407Arg) c.4145C>G (p.Thr1382Arg) c.4130C>G (p.Thr1377Arg) c.4091C>G (p.Thr1364Arg) c.4214C>G (p.Thr1405Arg) c.4142C>G (p.Thr1381Arg) c.4199C>G (p.Thr1400Arg) c.4205C>G (p.Thr1402Arg) c.4181C>G (p.Thr1394Arg) c.4070C>G (p.Thr1357Arg) c.4052C>G (p.Thr1351Arg) | gnomAD v4 |
| 12 | g.39309592G>T | CA384386765 | KIF21A | c.4271C>A (p.Thr1424Lys) c.4208C>A (p.Thr1403Lys) c.4232C>A (p.Thr1411Lys) c.4112C>A (p.Thr1371Lys) c.4160C>A (p.Thr1387Lys) n.1585C>A c.1214C>A (p.Thr405Lys) c.2173C>A c.4274C>A (p.Thr1425Lys) c.4259C>A (p.Thr1420Lys) c.4253C>A (p.Thr1418Lys) c.4235C>A (p.Thr1412Lys) c.4220C>A (p.Thr1407Lys) c.4145C>A (p.Thr1382Lys) c.4130C>A (p.Thr1377Lys) c.4091C>A (p.Thr1364Lys) c.4214C>A (p.Thr1405Lys) c.4142C>A (p.Thr1381Lys) c.4199C>A (p.Thr1400Lys) c.4205C>A (p.Thr1402Lys) c.4181C>A (p.Thr1394Lys) c.4070C>A (p.Thr1357Lys) c.4052C>A (p.Thr1351Lys) | gnomAD v4 |
| 12 | g.39309593T>A | CA384386767 | KIF21A | c.4270A>T (p.Thr1424Ser) c.4207A>T (p.Thr1403Ser) c.4231A>T (p.Thr1411Ser) c.4111A>T (p.Thr1371Ser) c.4159A>T (p.Thr1387Ser) n.1584A>T c.1213A>T (p.Thr405Ser) c.2172A>T c.4273A>T (p.Thr1425Ser) c.4258A>T (p.Thr1420Ser) c.4252A>T (p.Thr1418Ser) c.4234A>T (p.Thr1412Ser) c.4219A>T (p.Thr1407Ser) c.4144A>T (p.Thr1382Ser) c.4129A>T (p.Thr1377Ser) c.4090A>T (p.Thr1364Ser) c.4213A>T (p.Thr1405Ser) c.4141A>T (p.Thr1381Ser) c.4198A>T (p.Thr1400Ser) c.4204A>T (p.Thr1402Ser) c.4180A>T (p.Thr1394Ser) c.4069A>T (p.Thr1357Ser) c.4051A>T (p.Thr1351Ser) | |
| 12 | g.39309593T>C | CA6510227 | KIF21A | c.4270A>G (p.Thr1424Ala) c.4207A>G (p.Thr1403Ala) c.4231A>G (p.Thr1411Ala) c.4111A>G (p.Thr1371Ala) c.4159A>G (p.Thr1387Ala) n.1584A>G c.1213A>G (p.Thr405Ala) c.2172A>G c.4273A>G (p.Thr1425Ala) c.4258A>G (p.Thr1420Ala) c.4252A>G (p.Thr1418Ala) c.4234A>G (p.Thr1412Ala) c.4219A>G (p.Thr1407Ala) c.4144A>G (p.Thr1382Ala) c.4129A>G (p.Thr1377Ala) c.4090A>G (p.Thr1364Ala) c.4213A>G (p.Thr1405Ala) c.4141A>G (p.Thr1381Ala) c.4198A>G (p.Thr1400Ala) c.4204A>G (p.Thr1402Ala) c.4180A>G (p.Thr1394Ala) c.4069A>G (p.Thr1357Ala) c.4051A>G (p.Thr1351Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.39309593T>G | CA384386770 | KIF21A | c.4270A>C (p.Thr1424Pro) c.4207A>C (p.Thr1403Pro) c.4231A>C (p.Thr1411Pro) c.4111A>C (p.Thr1371Pro) c.4159A>C (p.Thr1387Pro) n.1584A>C c.1213A>C (p.Thr405Pro) c.2172A>C c.4273A>C (p.Thr1425Pro) c.4258A>C (p.Thr1420Pro) c.4252A>C (p.Thr1418Pro) c.4234A>C (p.Thr1412Pro) c.4219A>C (p.Thr1407Pro) c.4144A>C (p.Thr1382Pro) c.4129A>C (p.Thr1377Pro) c.4090A>C (p.Thr1364Pro) c.4213A>C (p.Thr1405Pro) c.4141A>C (p.Thr1381Pro) c.4198A>C (p.Thr1400Pro) c.4204A>C (p.Thr1402Pro) c.4180A>C (p.Thr1394Pro) c.4069A>C (p.Thr1357Pro) c.4051A>C (p.Thr1351Pro) | |
| 12 | g.39309593T= | CA2030565413 | KIF21A | c.4270A= (p.Thr1424=) c.4207A= (p.Thr1403=) c.4231A= (p.Thr1411=) c.4111A= (p.Thr1371=) c.4159A= (p.Thr1387=) n.1584A= c.1213A= (p.Thr405=) c.2172A= c.4273A= (p.Thr1425=) c.4258A= (p.Thr1420=) c.4252A= (p.Thr1418=) c.4234A= (p.Thr1412=) c.4219A= (p.Thr1407=) c.4144A= (p.Thr1382=) c.4129A= (p.Thr1377=) c.4090A= (p.Thr1364=) c.4213A= (p.Thr1405=) c.4141A= (p.Thr1381=) c.4198A= (p.Thr1400=) c.4204A= (p.Thr1402=) c.4180A= (p.Thr1394=) c.4069A= (p.Thr1357=) c.4051A= (p.Thr1351=) | |
| 12 | g.39309594T>A | CA479233352 | KIF21A | c.4269A>T (p.Arg1423=) c.4206A>T (p.Arg1402=) c.4230A>T (p.Arg1410=) c.4110A>T (p.Arg1370=) c.4158A>T (p.Arg1386=) n.1583A>T c.1212A>T (p.Arg404=) c.2171A>T c.4272A>T (p.Arg1424=) c.4257A>T (p.Arg1419=) c.4251A>T (p.Arg1417=) c.4233A>T (p.Arg1411=) c.4218A>T (p.Arg1406=) c.4143A>T (p.Arg1381=) c.4128A>T (p.Arg1376=) c.4089A>T (p.Arg1363=) c.4212A>T (p.Arg1404=) c.4140A>T (p.Arg1380=) c.4197A>T (p.Arg1399=) c.4203A>T (p.Arg1401=) c.4179A>T (p.Arg1393=) c.4068A>T (p.Arg1356=) c.4050A>T (p.Arg1350=) | |
| 12 | g.39309594T>C | CA479233350 | KIF21A | c.4269A>G (p.Arg1423=) c.4206A>G (p.Arg1402=) c.4230A>G (p.Arg1410=) c.4110A>G (p.Arg1370=) c.4158A>G (p.Arg1386=) n.1583A>G c.1212A>G (p.Arg404=) c.2171A>G c.4272A>G (p.Arg1424=) c.4257A>G (p.Arg1419=) c.4251A>G (p.Arg1417=) c.4233A>G (p.Arg1411=) c.4218A>G (p.Arg1406=) c.4143A>G (p.Arg1381=) c.4128A>G (p.Arg1376=) c.4089A>G (p.Arg1363=) c.4212A>G (p.Arg1404=) c.4140A>G (p.Arg1380=) c.4197A>G (p.Arg1399=) c.4203A>G (p.Arg1401=) c.4179A>G (p.Arg1393=) c.4068A>G (p.Arg1356=) c.4050A>G (p.Arg1350=) | |
| 12 | g.39309594T>G | CA479233351 | KIF21A | c.4269A>C (p.Arg1423=) c.4206A>C (p.Arg1402=) c.4230A>C (p.Arg1410=) c.4110A>C (p.Arg1370=) c.4158A>C (p.Arg1386=) n.1583A>C c.1212A>C (p.Arg404=) c.2171A>C c.4272A>C (p.Arg1424=) c.4257A>C (p.Arg1419=) c.4251A>C (p.Arg1417=) c.4233A>C (p.Arg1411=) c.4218A>C (p.Arg1406=) c.4143A>C (p.Arg1381=) c.4128A>C (p.Arg1376=) c.4089A>C (p.Arg1363=) c.4212A>C (p.Arg1404=) c.4140A>C (p.Arg1380=) c.4197A>C (p.Arg1399=) c.4203A>C (p.Arg1401=) c.4179A>C (p.Arg1393=) c.4068A>C (p.Arg1356=) c.4050A>C (p.Arg1350=) | |
| 12 | g.39309595C>A | CA384386773 | KIF21A | c.4268G>T (p.Arg1423Leu) c.4205G>T (p.Arg1402Leu) c.4229G>T (p.Arg1410Leu) c.4109G>T (p.Arg1370Leu) c.4157G>T (p.Arg1386Leu) n.1582G>T c.1211G>T (p.Arg404Leu) c.2170G>T c.4271G>T (p.Arg1424Leu) c.4256G>T (p.Arg1419Leu) c.4250G>T (p.Arg1417Leu) c.4232G>T (p.Arg1411Leu) c.4217G>T (p.Arg1406Leu) c.4142G>T (p.Arg1381Leu) c.4127G>T (p.Arg1376Leu) c.4088G>T (p.Arg1363Leu) c.4211G>T (p.Arg1404Leu) c.4139G>T (p.Arg1380Leu) c.4196G>T (p.Arg1399Leu) c.4202G>T (p.Arg1401Leu) c.4178G>T (p.Arg1393Leu) c.4067G>T (p.Arg1356Leu) c.4049G>T (p.Arg1350Leu) | |
| 12 | g.39309595C= | CA2030565421 | KIF21A | c.4268G= (p.Arg1423=) c.4205G= (p.Arg1402=) c.4229G= (p.Arg1410=) c.4109G= (p.Arg1370=) c.4157G= (p.Arg1386=) n.1582G= c.1211G= (p.Arg404=) c.2170G= c.4271G= (p.Arg1424=) c.4256G= (p.Arg1419=) c.4250G= (p.Arg1417=) c.4232G= (p.Arg1411=) c.4217G= (p.Arg1406=) c.4142G= (p.Arg1381=) c.4127G= (p.Arg1376=) c.4088G= (p.Arg1363=) c.4211G= (p.Arg1404=) c.4139G= (p.Arg1380=) c.4196G= (p.Arg1399=) c.4202G= (p.Arg1401=) c.4178G= (p.Arg1393=) c.4067G= (p.Arg1356=) c.4049G= (p.Arg1350=) | |
| 12 | g.39309595C>G | CA384386776 | KIF21A | c.4268G>C (p.Arg1423Pro) c.4205G>C (p.Arg1402Pro) c.4229G>C (p.Arg1410Pro) c.4109G>C (p.Arg1370Pro) c.4157G>C (p.Arg1386Pro) n.1582G>C c.1211G>C (p.Arg404Pro) c.2170G>C c.4271G>C (p.Arg1424Pro) c.4256G>C (p.Arg1419Pro) c.4250G>C (p.Arg1417Pro) c.4232G>C (p.Arg1411Pro) c.4217G>C (p.Arg1406Pro) c.4142G>C (p.Arg1381Pro) c.4127G>C (p.Arg1376Pro) c.4088G>C (p.Arg1363Pro) c.4211G>C (p.Arg1404Pro) c.4139G>C (p.Arg1380Pro) c.4196G>C (p.Arg1399Pro) c.4202G>C (p.Arg1401Pro) c.4178G>C (p.Arg1393Pro) c.4067G>C (p.Arg1356Pro) c.4049G>C (p.Arg1350Pro) | |
| 12 | g.39309595C>T | CA235281423 | KIF21A | c.4268G>A (p.Arg1423Gln) c.4205G>A (p.Arg1402Gln) c.4229G>A (p.Arg1410Gln) c.4109G>A (p.Arg1370Gln) c.4157G>A (p.Arg1386Gln) n.1582G>A c.1211G>A (p.Arg404Gln) c.2170G>A c.4271G>A (p.Arg1424Gln) c.4256G>A (p.Arg1419Gln) c.4250G>A (p.Arg1417Gln) c.4232G>A (p.Arg1411Gln) c.4217G>A (p.Arg1406Gln) c.4142G>A (p.Arg1381Gln) c.4127G>A (p.Arg1376Gln) c.4088G>A (p.Arg1363Gln) c.4211G>A (p.Arg1404Gln) c.4139G>A (p.Arg1380Gln) c.4196G>A (p.Arg1399Gln) c.4202G>A (p.Arg1401Gln) c.4178G>A (p.Arg1393Gln) c.4067G>A (p.Arg1356Gln) c.4049G>A (p.Arg1350Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.39309596G>A | CA384386778 | KIF21A | c.4267C>T (p.Arg1423Ter) c.4204C>T (p.Arg1402Ter) c.4228C>T (p.Arg1410Ter) c.4108C>T (p.Arg1370Ter) c.4156C>T (p.Arg1386Ter) n.1581C>T c.1210C>T (p.Arg404Ter) c.2169C>T c.4270C>T (p.Arg1424Ter) c.4255C>T (p.Arg1419Ter) c.4249C>T (p.Arg1417Ter) c.4231C>T (p.Arg1411Ter) c.4216C>T (p.Arg1406Ter) c.4141C>T (p.Arg1381Ter) c.4126C>T (p.Arg1376Ter) c.4087C>T (p.Arg1363Ter) c.4210C>T (p.Arg1404Ter) c.4138C>T (p.Arg1380Ter) c.4195C>T (p.Arg1399Ter) c.4201C>T (p.Arg1401Ter) c.4177C>T (p.Arg1393Ter) c.4066C>T (p.Arg1356Ter) c.4048C>T (p.Arg1350Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.39309596G>C | CA384386780 | KIF21A | c.4267C>G (p.Arg1423Gly) c.4204C>G (p.Arg1402Gly) c.4228C>G (p.Arg1410Gly) c.4108C>G (p.Arg1370Gly) c.4156C>G (p.Arg1386Gly) n.1581C>G c.1210C>G (p.Arg404Gly) c.2169C>G c.4270C>G (p.Arg1424Gly) c.4255C>G (p.Arg1419Gly) c.4249C>G (p.Arg1417Gly) c.4231C>G (p.Arg1411Gly) c.4216C>G (p.Arg1406Gly) c.4141C>G (p.Arg1381Gly) c.4126C>G (p.Arg1376Gly) c.4087C>G (p.Arg1363Gly) c.4210C>G (p.Arg1404Gly) c.4138C>G (p.Arg1380Gly) c.4195C>G (p.Arg1399Gly) c.4201C>G (p.Arg1401Gly) c.4177C>G (p.Arg1393Gly) c.4066C>G (p.Arg1356Gly) c.4048C>G (p.Arg1350Gly) | |
| 12 | g.39309596G= | CA2030565433 | KIF21A | c.4267C= (p.Arg1423=) c.4204C= (p.Arg1402=) c.4228C= (p.Arg1410=) c.4108C= (p.Arg1370=) c.4156C= (p.Arg1386=) n.1581C= c.1210C= (p.Arg404=) c.2169C= c.4270C= (p.Arg1424=) c.4255C= (p.Arg1419=) c.4249C= (p.Arg1417=) c.4231C= (p.Arg1411=) c.4216C= (p.Arg1406=) c.4141C= (p.Arg1381=) c.4126C= (p.Arg1376=) c.4087C= (p.Arg1363=) c.4210C= (p.Arg1404=) c.4138C= (p.Arg1380=) c.4195C= (p.Arg1399=) c.4201C= (p.Arg1401=) c.4177C= (p.Arg1393=) c.4066C= (p.Arg1356=) c.4048C= (p.Arg1350=) | |
| 12 | g.39309596G>T | CA479233353 | KIF21A | c.4267C>A (p.Arg1423=) c.4204C>A (p.Arg1402=) c.4228C>A (p.Arg1410=) c.4108C>A (p.Arg1370=) c.4156C>A (p.Arg1386=) n.1581C>A c.1210C>A (p.Arg404=) c.2169C>A c.4270C>A (p.Arg1424=) c.4255C>A (p.Arg1419=) c.4249C>A (p.Arg1417=) c.4231C>A (p.Arg1411=) c.4216C>A (p.Arg1406=) c.4141C>A (p.Arg1381=) c.4126C>A (p.Arg1376=) c.4087C>A (p.Arg1363=) c.4210C>A (p.Arg1404=) c.4138C>A (p.Arg1380=) c.4195C>A (p.Arg1399=) c.4201C>A (p.Arg1401=) c.4177C>A (p.Arg1393=) c.4066C>A (p.Arg1356=) c.4048C>A (p.Arg1350=) | |
| 12 | g.39309597A>C | CA384386782 | KIF21A | c.4266T>G (p.Ile1422Met) c.4203T>G (p.Ile1401Met) c.4227T>G (p.Ile1409Met) c.4107T>G (p.Ile1369Met) c.4155T>G (p.Ile1385Met) n.1580T>G c.1209T>G (p.Ile403Met) c.2168T>G c.4269T>G (p.Ile1423Met) c.4254T>G (p.Ile1418Met) c.4248T>G (p.Ile1416Met) c.4230T>G (p.Ile1410Met) c.4215T>G (p.Ile1405Met) c.4140T>G (p.Ile1380Met) c.4125T>G (p.Ile1375Met) c.4086T>G (p.Ile1362Met) c.4209T>G (p.Ile1403Met) c.4137T>G (p.Ile1379Met) c.4194T>G (p.Ile1398Met) c.4200T>G (p.Ile1400Met) c.4176T>G (p.Ile1392Met) c.4065T>G (p.Ile1355Met) c.4047T>G (p.Ile1349Met) | |
| 12 | g.39309597A>G | CA479233355 | KIF21A | c.4266T>C (p.Ile1422=) c.4203T>C (p.Ile1401=) c.4227T>C (p.Ile1409=) c.4107T>C (p.Ile1369=) c.4155T>C (p.Ile1385=) n.1580T>C c.1209T>C (p.Ile403=) c.2168T>C c.4269T>C (p.Ile1423=) c.4254T>C (p.Ile1418=) c.4248T>C (p.Ile1416=) c.4230T>C (p.Ile1410=) c.4215T>C (p.Ile1405=) c.4140T>C (p.Ile1380=) c.4125T>C (p.Ile1375=) c.4086T>C (p.Ile1362=) c.4209T>C (p.Ile1403=) c.4137T>C (p.Ile1379=) c.4194T>C (p.Ile1398=) c.4200T>C (p.Ile1400=) c.4176T>C (p.Ile1392=) c.4065T>C (p.Ile1355=) c.4047T>C (p.Ile1349=) | |
| 12 | g.39309597A>T | CA479233354 | KIF21A | c.4266T>A (p.Ile1422=) c.4203T>A (p.Ile1401=) c.4227T>A (p.Ile1409=) c.4107T>A (p.Ile1369=) c.4155T>A (p.Ile1385=) n.1580T>A c.1209T>A (p.Ile403=) c.2168T>A c.4269T>A (p.Ile1423=) c.4254T>A (p.Ile1418=) c.4248T>A (p.Ile1416=) c.4230T>A (p.Ile1410=) c.4215T>A (p.Ile1405=) c.4140T>A (p.Ile1380=) c.4125T>A (p.Ile1375=) c.4086T>A (p.Ile1362=) c.4209T>A (p.Ile1403=) c.4137T>A (p.Ile1379=) c.4194T>A (p.Ile1398=) c.4200T>A (p.Ile1400=) c.4176T>A (p.Ile1392=) c.4065T>A (p.Ile1355=) c.4047T>A (p.Ile1349=) | |
| 12 | g.39309598A>C | CA384386784 | KIF21A | c.4265T>G (p.Ile1422Ser) c.4202T>G (p.Ile1401Ser) c.4226T>G (p.Ile1409Ser) c.4106T>G (p.Ile1369Ser) c.4154T>G (p.Ile1385Ser) n.1579T>G c.1208T>G (p.Ile403Ser) c.2167T>G c.4268T>G (p.Ile1423Ser) c.4253T>G (p.Ile1418Ser) c.4247T>G (p.Ile1416Ser) c.4229T>G (p.Ile1410Ser) c.4214T>G (p.Ile1405Ser) c.4139T>G (p.Ile1380Ser) c.4124T>G (p.Ile1375Ser) c.4085T>G (p.Ile1362Ser) c.4208T>G (p.Ile1403Ser) c.4136T>G (p.Ile1379Ser) c.4193T>G (p.Ile1398Ser) c.4199T>G (p.Ile1400Ser) c.4175T>G (p.Ile1392Ser) c.4064T>G (p.Ile1355Ser) c.4046T>G (p.Ile1349Ser) | |
| 12 | g.39309598A>G | CA384386786 | KIF21A | c.4265T>C (p.Ile1422Thr) c.4202T>C (p.Ile1401Thr) c.4226T>C (p.Ile1409Thr) c.4106T>C (p.Ile1369Thr) c.4154T>C (p.Ile1385Thr) n.1579T>C c.1208T>C (p.Ile403Thr) c.2167T>C c.4268T>C (p.Ile1423Thr) c.4253T>C (p.Ile1418Thr) c.4247T>C (p.Ile1416Thr) c.4229T>C (p.Ile1410Thr) c.4214T>C (p.Ile1405Thr) c.4139T>C (p.Ile1380Thr) c.4124T>C (p.Ile1375Thr) c.4085T>C (p.Ile1362Thr) c.4208T>C (p.Ile1403Thr) c.4136T>C (p.Ile1379Thr) c.4193T>C (p.Ile1398Thr) c.4199T>C (p.Ile1400Thr) c.4175T>C (p.Ile1392Thr) c.4064T>C (p.Ile1355Thr) c.4046T>C (p.Ile1349Thr) | |
| 12 | g.39309598A>T | CA384386788 | KIF21A | c.4265T>A (p.Ile1422Asn) c.4202T>A (p.Ile1401Asn) c.4226T>A (p.Ile1409Asn) c.4106T>A (p.Ile1369Asn) c.4154T>A (p.Ile1385Asn) n.1579T>A c.1208T>A (p.Ile403Asn) c.2167T>A c.4268T>A (p.Ile1423Asn) c.4253T>A (p.Ile1418Asn) c.4247T>A (p.Ile1416Asn) c.4229T>A (p.Ile1410Asn) c.4214T>A (p.Ile1405Asn) c.4139T>A (p.Ile1380Asn) c.4124T>A (p.Ile1375Asn) c.4085T>A (p.Ile1362Asn) c.4208T>A (p.Ile1403Asn) c.4136T>A (p.Ile1379Asn) c.4193T>A (p.Ile1398Asn) c.4199T>A (p.Ile1400Asn) c.4175T>A (p.Ile1392Asn) c.4064T>A (p.Ile1355Asn) c.4046T>A (p.Ile1349Asn) | |
| 12 | g.39309599T>A | CA384386791 | KIF21A | c.4264A>T (p.Ile1422Phe) c.4201A>T (p.Ile1401Phe) c.4225A>T (p.Ile1409Phe) c.4105A>T (p.Ile1369Phe) c.4153A>T (p.Ile1385Phe) n.1578A>T c.1207A>T (p.Ile403Phe) c.2166A>T c.4267A>T (p.Ile1423Phe) c.4252A>T (p.Ile1418Phe) c.4246A>T (p.Ile1416Phe) c.4228A>T (p.Ile1410Phe) c.4213A>T (p.Ile1405Phe) c.4138A>T (p.Ile1380Phe) c.4123A>T (p.Ile1375Phe) c.4084A>T (p.Ile1362Phe) c.4207A>T (p.Ile1403Phe) c.4135A>T (p.Ile1379Phe) c.4192A>T (p.Ile1398Phe) c.4198A>T (p.Ile1400Phe) c.4174A>T (p.Ile1392Phe) c.4063A>T (p.Ile1355Phe) c.4045A>T (p.Ile1349Phe) | |
| 12 | g.39309599T>C | CA10642067 | KIF21A | c.4264A>G (p.Ile1422Val) c.4201A>G (p.Ile1401Val) c.4225A>G (p.Ile1409Val) c.4105A>G (p.Ile1369Val) c.4153A>G (p.Ile1385Val) n.1578A>G c.1207A>G (p.Ile403Val) c.2166A>G c.4267A>G (p.Ile1423Val) c.4252A>G (p.Ile1418Val) c.4246A>G (p.Ile1416Val) c.4228A>G (p.Ile1410Val) c.4213A>G (p.Ile1405Val) c.4138A>G (p.Ile1380Val) c.4123A>G (p.Ile1375Val) c.4084A>G (p.Ile1362Val) c.4207A>G (p.Ile1403Val) c.4135A>G (p.Ile1379Val) c.4192A>G (p.Ile1398Val) c.4198A>G (p.Ile1400Val) c.4174A>G (p.Ile1392Val) c.4063A>G (p.Ile1355Val) c.4045A>G (p.Ile1349Val) | ClinVar dbSNP gnomAD v4 |
| 12 | g.39309599T>G | CA384386795 | KIF21A | c.4264A>C (p.Ile1422Leu) c.4201A>C (p.Ile1401Leu) c.4225A>C (p.Ile1409Leu) c.4105A>C (p.Ile1369Leu) c.4153A>C (p.Ile1385Leu) n.1578A>C c.1207A>C (p.Ile403Leu) c.2166A>C c.4267A>C (p.Ile1423Leu) c.4252A>C (p.Ile1418Leu) c.4246A>C (p.Ile1416Leu) c.4228A>C (p.Ile1410Leu) c.4213A>C (p.Ile1405Leu) c.4138A>C (p.Ile1380Leu) c.4123A>C (p.Ile1375Leu) c.4084A>C (p.Ile1362Leu) c.4207A>C (p.Ile1403Leu) c.4135A>C (p.Ile1379Leu) c.4192A>C (p.Ile1398Leu) c.4198A>C (p.Ile1400Leu) c.4174A>C (p.Ile1392Leu) c.4063A>C (p.Ile1355Leu) c.4045A>C (p.Ile1349Leu) | gnomAD v4 |
| 12 | g.39309599T= | CA2030565445 | KIF21A | c.4264A= (p.Ile1422=) c.4201A= (p.Ile1401=) c.4225A= (p.Ile1409=) c.4105A= (p.Ile1369=) c.4153A= (p.Ile1385=) n.1578A= c.1207A= (p.Ile403=) c.2166A= c.4267A= (p.Ile1423=) c.4252A= (p.Ile1418=) c.4246A= (p.Ile1416=) c.4228A= (p.Ile1410=) c.4213A= (p.Ile1405=) c.4138A= (p.Ile1380=) c.4123A= (p.Ile1375=) c.4084A= (p.Ile1362=) c.4207A= (p.Ile1403=) c.4135A= (p.Ile1379=) c.4192A= (p.Ile1398=) c.4198A= (p.Ile1400=) c.4174A= (p.Ile1392=) c.4063A= (p.Ile1355=) c.4045A= (p.Ile1349=) |