Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.10348673A>C | CA338343575 | KIF1B | c.3952A>C (p.Thr1318Pro) c.3814A>C (p.Thr1272Pro) c.3889A>C (p.Thr1297Pro) c.3751A>C (p.Thr1251Pro) n.344A>C n.425A>C c.3847A>C (p.Thr1283Pro) c.3811A>C (p.Thr1271Pro) | |
1 | g.10348673A>G | CA338343576 | KIF1B | c.3952A>G (p.Thr1318Ala) c.3814A>G (p.Thr1272Ala) c.3889A>G (p.Thr1297Ala) c.3751A>G (p.Thr1251Ala) n.344A>G n.425A>G c.3847A>G (p.Thr1283Ala) c.3811A>G (p.Thr1271Ala) | |
1 | g.10348673A>T | CA338343573 | KIF1B | c.3952A>T (p.Thr1318Ser) c.3814A>T (p.Thr1272Ser) c.3889A>T (p.Thr1297Ser) c.3751A>T (p.Thr1251Ser) n.344A>T n.425A>T c.3847A>T (p.Thr1283Ser) c.3811A>T (p.Thr1271Ser) | |
1 | g.10348674C>A | CA338343577 | KIF1B | c.3953C>A (p.Thr1318Asn) c.3815C>A (p.Thr1272Asn) c.3890C>A (p.Thr1297Asn) c.3752C>A (p.Thr1251Asn) n.345C>A n.426C>A c.3848C>A (p.Thr1283Asn) c.3812C>A (p.Thr1271Asn) | |
1 | g.10348674C= | CA1153147273 | KIF1B | c.3953C= (p.Thr1318=) c.3815C= (p.Thr1272=) c.3890C= (p.Thr1297=) c.3752C= (p.Thr1251=) n.345C= n.426C= c.3848C= (p.Thr1283=) c.3812C= (p.Thr1271=) | |
1 | g.10348674C>G | CA338343578 | KIF1B | c.3953C>G (p.Thr1318Ser) c.3815C>G (p.Thr1272Ser) c.3890C>G (p.Thr1297Ser) c.3752C>G (p.Thr1251Ser) n.345C>G n.426C>G c.3848C>G (p.Thr1283Ser) c.3812C>G (p.Thr1271Ser) | |
1 | g.10348674C>T | CA338343579 | KIF1B | c.3953C>T (p.Thr1318Ile) c.3815C>T (p.Thr1272Ile) c.3890C>T (p.Thr1297Ile) c.3752C>T (p.Thr1251Ile) n.345C>T n.426C>T c.3848C>T (p.Thr1283Ile) c.3812C>T (p.Thr1271Ile) | ClinVar dbSNP |
1 | g.10348675C>A | CA415885348 | KIF1B | c.3954C>A (p.Thr1318=) c.3816C>A (p.Thr1272=) c.3891C>A (p.Thr1297=) c.3753C>A (p.Thr1251=) n.346C>A n.427C>A c.3849C>A (p.Thr1283=) c.3813C>A (p.Thr1271=) | |
1 | g.10348675C= | CA1153147274 | KIF1B | c.3954C= (p.Thr1318=) c.3816C= (p.Thr1272=) c.3891C= (p.Thr1297=) c.3753C= (p.Thr1251=) n.346C= n.427C= c.3849C= (p.Thr1283=) c.3813C= (p.Thr1271=) | |
1 | g.10348675C>G | CA415885349 | KIF1B | c.3954C>G (p.Thr1318=) c.3816C>G (p.Thr1272=) c.3891C>G (p.Thr1297=) c.3753C>G (p.Thr1251=) n.346C>G n.427C>G c.3849C>G (p.Thr1283=) c.3813C>G (p.Thr1271=) | |
1 | g.10348675C>T | CA415885350 | KIF1B | c.3954C>T (p.Thr1318=) c.3816C>T (p.Thr1272=) c.3891C>T (p.Thr1297=) c.3753C>T (p.Thr1251=) n.346C>T n.427C>T c.3849C>T (p.Thr1283=) c.3813C>T (p.Thr1271=) | ClinVar dbSNP gnomAD v4 |
1 | g.10348676A= | CA1144428271 | KIF1B | c.3955A= (p.Ile1319=) c.3817A= (p.Ile1273=) c.3892A= (p.Ile1298=) c.3754A= (p.Ile1252=) n.347A= n.428A= c.3850A= (p.Ile1284=) c.3814A= (p.Ile1272=) | |
1 | g.10348676A>C | CA338343580 | KIF1B | c.3955A>C (p.Ile1319Leu) c.3817A>C (p.Ile1273Leu) c.3892A>C (p.Ile1298Leu) c.3754A>C (p.Ile1252Leu) n.347A>C n.428A>C c.3850A>C (p.Ile1284Leu) c.3814A>C (p.Ile1272Leu) | |
1 | g.10348676A>G | CA17846272 | KIF1B | c.3955A>G (p.Ile1319Val) c.3817A>G (p.Ile1273Val) c.3892A>G (p.Ile1298Val) c.3754A>G (p.Ile1252Val) n.347A>G n.428A>G c.3850A>G (p.Ile1284Val) c.3814A>G (p.Ile1272Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.10348676A>T | CA338343584 | KIF1B | c.3955A>T (p.Ile1319Phe) c.3817A>T (p.Ile1273Phe) c.3892A>T (p.Ile1298Phe) c.3754A>T (p.Ile1252Phe) n.347A>T n.428A>T c.3850A>T (p.Ile1284Phe) c.3814A>T (p.Ile1272Phe) | gnomAD v4 |
1 | g.10348677T>A | CA338343587 | KIF1B | c.3956T>A (p.Ile1319Asn) c.3818T>A (p.Ile1273Asn) c.3893T>A (p.Ile1298Asn) c.3755T>A (p.Ile1252Asn) n.348T>A n.429T>A c.3851T>A (p.Ile1284Asn) c.3815T>A (p.Ile1272Asn) | |
1 | g.10348677T>C | CA338343588 | KIF1B | c.3956T>C (p.Ile1319Thr) c.3818T>C (p.Ile1273Thr) c.3893T>C (p.Ile1298Thr) c.3755T>C (p.Ile1252Thr) n.348T>C n.429T>C c.3851T>C (p.Ile1284Thr) c.3815T>C (p.Ile1272Thr) | ClinVar |
1 | g.10348677T>G | CA338343591 | KIF1B | c.3956T>G (p.Ile1319Ser) c.3818T>G (p.Ile1273Ser) c.3893T>G (p.Ile1298Ser) c.3755T>G (p.Ile1252Ser) n.348T>G n.429T>G c.3851T>G (p.Ile1284Ser) c.3815T>G (p.Ile1272Ser) | |
1 | g.10348678T>A | CA415885351 | KIF1B | c.3957T>A (p.Ile1319=) c.3819T>A (p.Ile1273=) c.3894T>A (p.Ile1298=) c.3756T>A (p.Ile1252=) n.349T>A n.430T>A c.3852T>A (p.Ile1284=) c.3816T>A (p.Ile1272=) | |
1 | g.10348678T>C | CA415885352 | KIF1B | c.3957T>C (p.Ile1319=) c.3819T>C (p.Ile1273=) c.3894T>C (p.Ile1298=) c.3756T>C (p.Ile1252=) n.349T>C n.430T>C c.3852T>C (p.Ile1284=) c.3816T>C (p.Ile1272=) | gnomAD v4 |
1 | g.10348678T>G | CA338343594 | KIF1B | c.3957T>G (p.Ile1319Met) c.3819T>G (p.Ile1273Met) c.3894T>G (p.Ile1298Met) c.3756T>G (p.Ile1252Met) n.349T>G n.430T>G c.3852T>G (p.Ile1284Met) c.3816T>G (p.Ile1272Met) | |
1 | g.10348679A>C | CA338343597 | KIF1B | c.3958A>C (p.Ile1320Leu) c.3820A>C (p.Ile1274Leu) c.3895A>C (p.Ile1299Leu) c.3757A>C (p.Ile1253Leu) n.350A>C n.431A>C c.3853A>C (p.Ile1285Leu) c.3817A>C (p.Ile1273Leu) | |
1 | g.10348679A>G | CA338343598 | KIF1B | c.3958A>G (p.Ile1320Val) c.3820A>G (p.Ile1274Val) c.3895A>G (p.Ile1299Val) c.3757A>G (p.Ile1253Val) n.350A>G n.431A>G c.3853A>G (p.Ile1285Val) c.3817A>G (p.Ile1273Val) | ClinVar |
1 | g.10348679A>T | CA338343600 | KIF1B | c.3958A>T (p.Ile1320Phe) c.3820A>T (p.Ile1274Phe) c.3895A>T (p.Ile1299Phe) c.3757A>T (p.Ile1253Phe) n.350A>T n.431A>T c.3853A>T (p.Ile1285Phe) c.3817A>T (p.Ile1273Phe) | |
1 | g.10348680T>A | CA338343605 | KIF1B | c.3959T>A (p.Ile1320Asn) c.3821T>A (p.Ile1274Asn) c.3896T>A (p.Ile1299Asn) c.3758T>A (p.Ile1253Asn) n.351T>A n.432T>A c.3854T>A (p.Ile1285Asn) c.3818T>A (p.Ile1273Asn) | gnomAD v4 |
1 | g.10348680T>C | CA338343603 | KIF1B | c.3959T>C (p.Ile1320Thr) c.3821T>C (p.Ile1274Thr) c.3896T>C (p.Ile1299Thr) c.3758T>C (p.Ile1253Thr) n.351T>C n.432T>C c.3854T>C (p.Ile1285Thr) c.3818T>C (p.Ile1273Thr) | |
1 | g.10348680T>G | CA338343602 | KIF1B | c.3959T>G (p.Ile1320Ser) c.3821T>G (p.Ile1274Ser) c.3896T>G (p.Ile1299Ser) c.3758T>G (p.Ile1253Ser) n.351T>G n.432T>G c.3854T>G (p.Ile1285Ser) c.3818T>G (p.Ile1273Ser) | |
1 | g.10348681C>A | CA415885353 | KIF1B | c.3960C>A (p.Ile1320=) c.3822C>A (p.Ile1274=) c.3897C>A (p.Ile1299=) c.3759C>A (p.Ile1253=) n.352C>A n.433C>A c.3855C>A (p.Ile1285=) c.3819C>A (p.Ile1273=) | |
1 | g.10348681C= | CA1142006365 | KIF1B | c.3960C= (p.Ile1320=) c.3822C= (p.Ile1274=) c.3897C= (p.Ile1299=) c.3759C= (p.Ile1253=) n.352C= n.433C= c.3855C= (p.Ile1285=) c.3819C= (p.Ile1273=) | |
1 | g.10348681C>G | CA338343607 | KIF1B | c.3960C>G (p.Ile1320Met) c.3822C>G (p.Ile1274Met) c.3897C>G (p.Ile1299Met) c.3759C>G (p.Ile1253Met) n.352C>G n.433C>G c.3855C>G (p.Ile1285Met) c.3819C>G (p.Ile1273Met) | gnomAD v4 |
1 | g.10348681C>T | CA581917 | KIF1B | c.3960C>T (p.Ile1320=) c.3822C>T (p.Ile1274=) c.3897C>T (p.Ile1299=) c.3759C>T (p.Ile1253=) n.352C>T n.433C>T c.3855C>T (p.Ile1285=) c.3819C>T (p.Ile1273=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10348682C>A | CA338343610 | KIF1B | c.3961C>A (p.His1321Asn) c.3823C>A (p.His1275Asn) c.3898C>A (p.His1300Asn) c.3760C>A (p.His1254Asn) n.353C>A n.434C>A c.3856C>A (p.His1286Asn) c.3820C>A (p.His1274Asn) | |
1 | g.10348682C>G | CA338343613 | KIF1B | c.3961C>G (p.His1321Asp) c.3823C>G (p.His1275Asp) c.3898C>G (p.His1300Asp) c.3760C>G (p.His1254Asp) n.353C>G n.434C>G c.3856C>G (p.His1286Asp) c.3820C>G (p.His1274Asp) | |
1 | g.10348682C>T | CA338343616 | KIF1B | c.3961C>T (p.His1321Tyr) c.3823C>T (p.His1275Tyr) c.3898C>T (p.His1300Tyr) c.3760C>T (p.His1254Tyr) n.353C>T n.434C>T c.3856C>T (p.His1286Tyr) c.3820C>T (p.His1274Tyr) | |
1 | g.10348683A>C | CA338343620 | KIF1B | c.3962A>C (p.His1321Pro) c.3824A>C (p.His1275Pro) c.3899A>C (p.His1300Pro) c.3761A>C (p.His1254Pro) n.354A>C n.435A>C c.3857A>C (p.His1286Pro) c.3821A>C (p.His1274Pro) | |
1 | g.10348683A>G | CA338343622 | KIF1B | c.3962A>G (p.His1321Arg) c.3824A>G (p.His1275Arg) c.3899A>G (p.His1300Arg) c.3761A>G (p.His1254Arg) n.354A>G n.435A>G c.3857A>G (p.His1286Arg) c.3821A>G (p.His1274Arg) | |
1 | g.10348683A>T | CA338343625 | KIF1B | c.3962A>T (p.His1321Leu) c.3824A>T (p.His1275Leu) c.3899A>T (p.His1300Leu) c.3761A>T (p.His1254Leu) n.354A>T n.435A>T c.3857A>T (p.His1286Leu) c.3821A>T (p.His1274Leu) | |
1 | g.10348684T>A | CA338343626 | KIF1B | c.3963T>A (p.His1321Gln) c.3825T>A (p.His1275Gln) c.3900T>A (p.His1300Gln) c.3762T>A (p.His1254Gln) n.355T>A n.436T>A c.3858T>A (p.His1286Gln) c.3822T>A (p.His1274Gln) | |
1 | g.10348684T>C | CA415885354 | KIF1B | c.3963T>C (p.His1321=) c.3825T>C (p.His1275=) c.3900T>C (p.His1300=) c.3762T>C (p.His1254=) n.355T>C n.436T>C c.3858T>C (p.His1286=) c.3822T>C (p.His1274=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.10348684T>G | CA338343628 | KIF1B | c.3963T>G (p.His1321Gln) c.3825T>G (p.His1275Gln) c.3900T>G (p.His1300Gln) c.3762T>G (p.His1254Gln) n.355T>G n.436T>G c.3858T>G (p.His1286Gln) c.3822T>G (p.His1274Gln) | gnomAD v4 |
1 | g.10348684T= | CA1153147275 | KIF1B | c.3963T= (p.His1321=) c.3825T= (p.His1275=) c.3900T= (p.His1300=) c.3762T= (p.His1254=) n.355T= n.436T= c.3858T= (p.His1286=) c.3822T= (p.His1274=) | |
1 | g.10348685G>A | CA338343629 | KIF1B | c.3964G>A (p.Glu1322Lys) c.3826G>A (p.Glu1276Lys) c.3901G>A (p.Glu1301Lys) c.3763G>A (p.Glu1255Lys) n.356G>A n.437G>A c.3859G>A (p.Glu1287Lys) c.3823G>A (p.Glu1275Lys) | |
1 | g.10348685G>C | CA338343631 | KIF1B | c.3964G>C (p.Glu1322Gln) c.3826G>C (p.Glu1276Gln) c.3901G>C (p.Glu1301Gln) c.3763G>C (p.Glu1255Gln) n.356G>C n.437G>C c.3859G>C (p.Glu1287Gln) c.3823G>C (p.Glu1275Gln) | |
1 | g.10348685G>T | CA338343634 | KIF1B | c.3964G>T (p.Glu1322Ter) c.3826G>T (p.Glu1276Ter) c.3901G>T (p.Glu1301Ter) c.3763G>T (p.Glu1255Ter) n.356G>T n.437G>T c.3859G>T (p.Glu1287Ter) c.3823G>T (p.Glu1275Ter) | |
1 | g.10348686A>C | CA338343638 | KIF1B | c.3965A>C (p.Glu1322Ala) c.3827A>C (p.Glu1276Ala) c.3902A>C (p.Glu1301Ala) c.3764A>C (p.Glu1255Ala) n.357A>C n.438A>C c.3860A>C (p.Glu1287Ala) c.3824A>C (p.Glu1275Ala) | |
1 | g.10348686A>G | CA338343640 | KIF1B | c.3965A>G (p.Glu1322Gly) c.3827A>G (p.Glu1276Gly) c.3902A>G (p.Glu1301Gly) c.3764A>G (p.Glu1255Gly) n.357A>G n.438A>G c.3860A>G (p.Glu1287Gly) c.3824A>G (p.Glu1275Gly) | |
1 | g.10348686A>T | CA338343637 | KIF1B | c.3965A>T (p.Glu1322Val) c.3827A>T (p.Glu1276Val) c.3902A>T (p.Glu1301Val) c.3764A>T (p.Glu1255Val) n.357A>T n.438A>T c.3860A>T (p.Glu1287Val) c.3824A>T (p.Glu1275Val) | |
1 | g.10348687G>A | CA415885355 | KIF1B | c.3966G>A (p.Glu1322=) c.3828G>A (p.Glu1276=) c.3903G>A (p.Glu1301=) c.3765G>A (p.Glu1255=) n.358G>A n.439G>A c.3861G>A (p.Glu1287=) c.3825G>A (p.Glu1275=) | gnomAD v4 |
1 | g.10348687G>C | CA338343644 | KIF1B | c.3966G>C (p.Glu1322Asp) c.3828G>C (p.Glu1276Asp) c.3903G>C (p.Glu1301Asp) c.3765G>C (p.Glu1255Asp) n.358G>C n.439G>C c.3861G>C (p.Glu1287Asp) c.3825G>C (p.Glu1275Asp) | |
1 | g.10348687G>T | CA338343643 | KIF1B | c.3966G>T (p.Glu1322Asp) c.3828G>T (p.Glu1276Asp) c.3903G>T (p.Glu1301Asp) c.3765G>T (p.Glu1255Asp) n.358G>T n.439G>T c.3861G>T (p.Glu1287Asp) c.3825G>T (p.Glu1275Asp) | |
1 | g.10348688A>C | CA338343652 | KIF1B | c.3967A>C (p.Lys1323Gln) c.3829A>C (p.Lys1277Gln) c.3904A>C (p.Lys1302Gln) c.3766A>C (p.Lys1256Gln) n.359A>C n.440A>C c.3862A>C (p.Lys1288Gln) c.3826A>C (p.Lys1276Gln) | |
1 | g.10348688A>G | CA338343647 | KIF1B | c.3967A>G (p.Lys1323Glu) c.3829A>G (p.Lys1277Glu) c.3904A>G (p.Lys1302Glu) c.3766A>G (p.Lys1256Glu) n.359A>G n.440A>G c.3862A>G (p.Lys1288Glu) c.3826A>G (p.Lys1276Glu) | |
1 | g.10348688A>T | CA338343649 | KIF1B | c.3967A>T (p.Lys1323Ter) c.3829A>T (p.Lys1277Ter) c.3904A>T (p.Lys1302Ter) c.3766A>T (p.Lys1256Ter) n.359A>T n.440A>T c.3862A>T (p.Lys1288Ter) c.3826A>T (p.Lys1276Ter) | |
1 | g.10348689A= | CA1153147277 | KIF1B | c.3968A= (p.Lys1323=) c.3830A= (p.Lys1277=) c.3905A= (p.Lys1302=) c.3767A= (p.Lys1256=) n.360A= n.441A= c.3863A= (p.Lys1288=) c.3827A= (p.Lys1276=) | |
1 | g.10348689A>C | CA17846283 | KIF1B | c.3968A>C (p.Lys1323Thr) c.3830A>C (p.Lys1277Thr) c.3905A>C (p.Lys1302Thr) c.3767A>C (p.Lys1256Thr) n.360A>C n.441A>C c.3863A>C (p.Lys1288Thr) c.3827A>C (p.Lys1276Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10348689A>G | CA338343655 | KIF1B | c.3968A>G (p.Lys1323Arg) c.3830A>G (p.Lys1277Arg) c.3905A>G (p.Lys1302Arg) c.3767A>G (p.Lys1256Arg) n.360A>G n.441A>G c.3863A>G (p.Lys1288Arg) c.3827A>G (p.Lys1276Arg) | |
1 | g.10348689A>T | CA338343657 | KIF1B | c.3968A>T (p.Lys1323Met) c.3830A>T (p.Lys1277Met) c.3905A>T (p.Lys1302Met) c.3767A>T (p.Lys1256Met) n.360A>T n.441A>T c.3863A>T (p.Lys1288Met) c.3827A>T (p.Lys1276Met) | gnomAD v4 |
1 | g.10348689_10348691delinsAGG | CA1153147276 | KIF1B | c.3968_3970delinsAGG (p.Lys1323=) c.3830_3832delinsAGG (p.Lys1277=) c.3905_3907delinsAGG (p.Lys1302=) c.3767_3769delinsAGG (p.Lys1256=) n.360_362delinsAGG n.441_443delinsAGG c.3863_3865delinsAGG (p.Lys1288=) c.3827_3829delinsAGG (p.Lys1276=) | |
1 | g.10348690G>A | CA415885356 | KIF1B | c.3969G>A (p.Lys1323=) c.3831G>A (p.Lys1277=) c.3906G>A (p.Lys1302=) c.3768G>A (p.Lys1256=) n.361G>A n.442G>A c.3864G>A (p.Lys1288=) c.3828G>A (p.Lys1276=) | gnomAD v4 |
1 | g.10348690G>C | CA338343662 | KIF1B | c.3969G>C (p.Lys1323Asn) c.3831G>C (p.Lys1277Asn) c.3906G>C (p.Lys1302Asn) c.3768G>C (p.Lys1256Asn) n.361G>C n.442G>C c.3864G>C (p.Lys1288Asn) c.3828G>C (p.Lys1276Asn) | |
1 | g.10348690G>T | CA338343660 | KIF1B | c.3969G>T (p.Lys1323Asn) c.3831G>T (p.Lys1277Asn) c.3906G>T (p.Lys1302Asn) c.3768G>T (p.Lys1256Asn) n.361G>T n.442G>T c.3864G>T (p.Lys1288Asn) c.3828G>T (p.Lys1276Asn) | |
1 | g.10348692_10348693del | CA581918 | KIF1B | c.3971_3972del (p.Gly1324GlufsTer10) c.3833_3834del (p.Gly1278GlufsTer10) c.3908_3909del (p.Gly1303GlufsTer10) c.3770_3771del (p.Gly1257GlufsTer10) n.363_364del n.444_445del c.3866_3867del (p.Gly1289GlufsTer10) c.3830_3831del (p.Gly1277GlufsTer10) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10348691G>A | CA338343664 | KIF1B | c.3970G>A (p.Gly1324Arg) c.3832G>A (p.Gly1278Arg) c.3907G>A (p.Gly1303Arg) c.3769G>A (p.Gly1257Arg) n.362G>A n.443G>A c.3865G>A (p.Gly1289Arg) c.3829G>A (p.Gly1277Arg) | |
1 | g.10348691G>C | CA338343667 | KIF1B | c.3970G>C (p.Gly1324Arg) c.3832G>C (p.Gly1278Arg) c.3907G>C (p.Gly1303Arg) c.3769G>C (p.Gly1257Arg) n.362G>C n.443G>C c.3865G>C (p.Gly1289Arg) c.3829G>C (p.Gly1277Arg) | ClinVar |
1 | g.10348691G>T | CA338343669 | KIF1B | c.3970G>T (p.Gly1324Trp) c.3832G>T (p.Gly1278Trp) c.3907G>T (p.Gly1303Trp) c.3769G>T (p.Gly1257Trp) n.362G>T n.443G>T c.3865G>T (p.Gly1289Trp) c.3829G>T (p.Gly1277Trp) | |
1 | g.10348692G>A | CA17846302 | KIF1B | c.3971G>A (p.Gly1324Glu) c.3833G>A (p.Gly1278Glu) c.3908G>A (p.Gly1303Glu) c.3770G>A (p.Gly1257Glu) n.363G>A n.444G>A c.3866G>A (p.Gly1289Glu) c.3830G>A (p.Gly1277Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10348692G>C | CA338343671 | KIF1B | c.3971G>C (p.Gly1324Ala) c.3833G>C (p.Gly1278Ala) c.3908G>C (p.Gly1303Ala) c.3770G>C (p.Gly1257Ala) n.363G>C n.444G>C c.3866G>C (p.Gly1289Ala) c.3830G>C (p.Gly1277Ala) | |
1 | g.10348692G= | CA1142330129 | KIF1B | c.3971G= (p.Gly1324=) c.3833G= (p.Gly1278=) c.3908G= (p.Gly1303=) c.3770G= (p.Gly1257=) n.363G= n.444G= c.3866G= (p.Gly1289=) c.3830G= (p.Gly1277=) | |
1 | g.10348692G>T | CA338343674 | KIF1B | c.3971G>T (p.Gly1324Val) c.3833G>T (p.Gly1278Val) c.3908G>T (p.Gly1303Val) c.3770G>T (p.Gly1257Val) n.363G>T n.444G>T c.3866G>T (p.Gly1289Val) c.3830G>T (p.Gly1277Val) | |
1 | g.10348693G>A | CA415885357 | KIF1B | c.3972G>A (p.Gly1324=) c.3834G>A (p.Gly1278=) c.3909G>A (p.Gly1303=) c.3771G>A (p.Gly1257=) n.364G>A n.445G>A c.3867G>A (p.Gly1289=) c.3831G>A (p.Gly1277=) | ClinVar |
1 | g.10348693G>C | CA415885358 | KIF1B | c.3972G>C (p.Gly1324=) c.3834G>C (p.Gly1278=) c.3909G>C (p.Gly1303=) c.3771G>C (p.Gly1257=) n.364G>C n.445G>C c.3867G>C (p.Gly1289=) c.3831G>C (p.Gly1277=) | ClinVar dbSNP |
1 | g.10348693G= | CA1153147278 | KIF1B | c.3972G= (p.Gly1324=) c.3834G= (p.Gly1278=) c.3909G= (p.Gly1303=) c.3771G= (p.Gly1257=) n.364G= n.445G= c.3867G= (p.Gly1289=) c.3831G= (p.Gly1277=) | |
1 | g.10348693G>T | CA415885359 | KIF1B | c.3972G>T (p.Gly1324=) c.3834G>T (p.Gly1278=) c.3909G>T (p.Gly1303=) c.3771G>T (p.Gly1257=) n.364G>T n.445G>T c.3867G>T (p.Gly1289=) c.3831G>T (p.Gly1277=) | |
1 | g.10348694A>C | CA338343677 | KIF1B | c.3973A>C (p.Ser1325Arg) c.3835A>C (p.Ser1279Arg) c.3910A>C (p.Ser1304Arg) c.3772A>C (p.Ser1258Arg) n.365A>C n.446A>C c.3868A>C (p.Ser1290Arg) c.3832A>C (p.Ser1278Arg) | |
1 | g.10348694A>G | CA338343682 | KIF1B | c.3973A>G (p.Ser1325Gly) c.3835A>G (p.Ser1279Gly) c.3910A>G (p.Ser1304Gly) c.3772A>G (p.Ser1258Gly) n.365A>G n.446A>G c.3868A>G (p.Ser1290Gly) c.3832A>G (p.Ser1278Gly) | |
1 | g.10348694A>T | CA338343679 | KIF1B | c.3973A>T (p.Ser1325Cys) c.3835A>T (p.Ser1279Cys) c.3910A>T (p.Ser1304Cys) c.3772A>T (p.Ser1258Cys) n.365A>T n.446A>T c.3868A>T (p.Ser1290Cys) c.3832A>T (p.Ser1278Cys) | |
1 | g.10348695G>A | CA338343684 | KIF1B | c.3974G>A (p.Ser1325Asn) c.3836G>A (p.Ser1279Asn) c.3911G>A (p.Ser1304Asn) c.3773G>A (p.Ser1258Asn) n.366G>A n.447G>A c.3869G>A (p.Ser1290Asn) c.3833G>A (p.Ser1278Asn) | ClinVar |
1 | g.10348695G>C | CA338343685 | KIF1B | c.3974G>C (p.Ser1325Thr) c.3836G>C (p.Ser1279Thr) c.3911G>C (p.Ser1304Thr) c.3773G>C (p.Ser1258Thr) n.366G>C n.447G>C c.3869G>C (p.Ser1290Thr) c.3833G>C (p.Ser1278Thr) | COSMIC |
1 | g.10348695G>T | CA338343689 | KIF1B | c.3974G>T (p.Ser1325Ile) c.3836G>T (p.Ser1279Ile) c.3911G>T (p.Ser1304Ile) c.3773G>T (p.Ser1258Ile) n.366G>T n.447G>T c.3869G>T (p.Ser1290Ile) c.3833G>T (p.Ser1278Ile) | |
1 | g.10348696C>A | CA338343690 | KIF1B | c.3975C>A (p.Ser1325Arg) c.3837C>A (p.Ser1279Arg) c.3912C>A (p.Ser1304Arg) c.3774C>A (p.Ser1258Arg) n.367C>A n.448C>A c.3870C>A (p.Ser1290Arg) c.3834C>A (p.Ser1278Arg) | |
1 | g.10348696C= | CA1153147279 | KIF1B | c.3975C= (p.Ser1325=) c.3837C= (p.Ser1279=) c.3912C= (p.Ser1304=) c.3774C= (p.Ser1258=) n.367C= n.448C= c.3870C= (p.Ser1290=) c.3834C= (p.Ser1278=) | |
1 | g.10348696C>G | CA338343693 | KIF1B | c.3975C>G (p.Ser1325Arg) c.3837C>G (p.Ser1279Arg) c.3912C>G (p.Ser1304Arg) c.3774C>G (p.Ser1258Arg) n.367C>G n.448C>G c.3870C>G (p.Ser1290Arg) c.3834C>G (p.Ser1278Arg) | |
1 | g.10348696C>T | CA581919 | KIF1B | c.3975C>T (p.Ser1325=) c.3837C>T (p.Ser1279=) c.3912C>T (p.Ser1304=) c.3774C>T (p.Ser1258=) n.367C>T n.448C>T c.3870C>T (p.Ser1290=) c.3834C>T (p.Ser1278=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.10348697G>A | CA581920 | KIF1B | c.3976G>A (p.Glu1326Lys) c.3838G>A (p.Glu1280Lys) c.3913G>A (p.Glu1305Lys) c.3775G>A (p.Glu1259Lys) n.368G>A n.449G>A c.3871G>A (p.Glu1291Lys) c.3835G>A (p.Glu1279Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10348697G>C | CA338343701 | KIF1B | c.3976G>C (p.Glu1326Gln) c.3838G>C (p.Glu1280Gln) c.3913G>C (p.Glu1305Gln) c.3775G>C (p.Glu1259Gln) n.368G>C n.449G>C c.3871G>C (p.Glu1291Gln) c.3835G>C (p.Glu1279Gln) | |
1 | g.10348697G= | CA1153147280 | KIF1B | c.3976G= (p.Glu1326=) c.3838G= (p.Glu1280=) c.3913G= (p.Glu1305=) c.3775G= (p.Glu1259=) n.368G= n.449G= c.3871G= (p.Glu1291=) c.3835G= (p.Glu1279=) | |
1 | g.10348697G>T | CA338343702 | KIF1B | c.3976G>T (p.Glu1326Ter) c.3838G>T (p.Glu1280Ter) c.3913G>T (p.Glu1305Ter) c.3775G>T (p.Glu1259Ter) n.368G>T n.449G>T c.3871G>T (p.Glu1291Ter) c.3835G>T (p.Glu1279Ter) | |
1 | g.10348698A>C | CA338343703 | KIF1B | c.3977A>C (p.Glu1326Ala) c.3839A>C (p.Glu1280Ala) c.3914A>C (p.Glu1305Ala) c.3776A>C (p.Glu1259Ala) n.369A>C n.450A>C c.3872A>C (p.Glu1291Ala) c.3836A>C (p.Glu1279Ala) | |
1 | g.10348698A>G | CA338343704 | KIF1B | c.3977A>G (p.Glu1326Gly) c.3839A>G (p.Glu1280Gly) c.3914A>G (p.Glu1305Gly) c.3776A>G (p.Glu1259Gly) n.369A>G n.450A>G c.3872A>G (p.Glu1291Gly) c.3836A>G (p.Glu1279Gly) | |
1 | g.10348698A>T | CA338343705 | KIF1B | c.3977A>T (p.Glu1326Val) c.3839A>T (p.Glu1280Val) c.3914A>T (p.Glu1305Val) c.3776A>T (p.Glu1259Val) n.369A>T n.450A>T c.3872A>T (p.Glu1291Val) c.3836A>T (p.Glu1279Val) | |
1 | g.10348699G>A | CA415885360 | KIF1B | c.3978G>A (p.Glu1326=) c.3840G>A (p.Glu1280=) c.3915G>A (p.Glu1305=) c.3777G>A (p.Glu1259=) n.370G>A n.451G>A c.3873G>A (p.Glu1291=) c.3837G>A (p.Glu1279=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.10348699G>C | CA338343706 | KIF1B | c.3978G>C (p.Glu1326Asp) c.3840G>C (p.Glu1280Asp) c.3915G>C (p.Glu1305Asp) c.3777G>C (p.Glu1259Asp) n.370G>C n.451G>C c.3873G>C (p.Glu1291Asp) c.3837G>C (p.Glu1279Asp) | |
1 | g.10348699G= | CA1153147281 | KIF1B | c.3978G= (p.Glu1326=) c.3840G= (p.Glu1280=) c.3915G= (p.Glu1305=) c.3777G= (p.Glu1259=) n.370G= n.451G= c.3873G= (p.Glu1291=) c.3837G= (p.Glu1279=) | |
1 | g.10348699G>T | CA338343708 | KIF1B | c.3978G>T (p.Glu1326Asp) c.3840G>T (p.Glu1280Asp) c.3915G>T (p.Glu1305Asp) c.3777G>T (p.Glu1259Asp) n.370G>T n.451G>T c.3873G>T (p.Glu1291Asp) c.3837G>T (p.Glu1279Asp) | |
1 | g.10348700C>A | CA338343710 | KIF1B | c.3979C>A (p.Leu1327Ile) c.3841C>A (p.Leu1281Ile) c.3916C>A (p.Leu1306Ile) c.3778C>A (p.Leu1260Ile) n.371C>A n.452C>A c.3874C>A (p.Leu1292Ile) c.3838C>A (p.Leu1280Ile) | |
1 | g.10348700C= | CA1153147282 | KIF1B | c.3979C= (p.Leu1327=) c.3841C= (p.Leu1281=) c.3916C= (p.Leu1306=) c.3778C= (p.Leu1260=) n.371C= n.452C= c.3874C= (p.Leu1292=) c.3838C= (p.Leu1280=) | |
1 | g.10348700C>G | CA338343713 | KIF1B | c.3979C>G (p.Leu1327Val) c.3841C>G (p.Leu1281Val) c.3916C>G (p.Leu1306Val) c.3778C>G (p.Leu1260Val) n.371C>G n.452C>G c.3874C>G (p.Leu1292Val) c.3838C>G (p.Leu1280Val) | |
1 | g.10348700C>T | CA338343711 | KIF1B | c.3979C>T (p.Leu1327Phe) c.3841C>T (p.Leu1281Phe) c.3916C>T (p.Leu1306Phe) c.3778C>T (p.Leu1260Phe) n.371C>T n.452C>T c.3874C>T (p.Leu1292Phe) c.3838C>T (p.Leu1280Phe) | ClinVar dbSNP |
1 | g.10348701T>A | CA338343715 | KIF1B | c.3980T>A (p.Leu1327His) c.3842T>A (p.Leu1281His) c.3917T>A (p.Leu1306His) c.3779T>A (p.Leu1260His) n.372T>A n.453T>A c.3875T>A (p.Leu1292His) c.3839T>A (p.Leu1280His) | dbSNP |
1 | g.10348701T>C | CA338343716 | KIF1B | c.3980T>C (p.Leu1327Pro) c.3842T>C (p.Leu1281Pro) c.3917T>C (p.Leu1306Pro) c.3779T>C (p.Leu1260Pro) n.372T>C n.453T>C c.3875T>C (p.Leu1292Pro) c.3839T>C (p.Leu1280Pro) | |
1 | g.10348701T>G | CA338343718 | KIF1B | c.3980T>G (p.Leu1327Arg) c.3842T>G (p.Leu1281Arg) c.3917T>G (p.Leu1306Arg) c.3779T>G (p.Leu1260Arg) n.372T>G n.453T>G c.3875T>G (p.Leu1292Arg) c.3839T>G (p.Leu1280Arg) | gnomAD v4 |
1 | g.10348701T= | CA1153147283 | KIF1B | c.3980T= (p.Leu1327=) c.3842T= (p.Leu1281=) c.3917T= (p.Leu1306=) c.3779T= (p.Leu1260=) n.372T= n.453T= c.3875T= (p.Leu1292=) c.3839T= (p.Leu1280=) | |
1 | g.10348702C>A | CA415885361 | KIF1B | c.3981C>A (p.Leu1327=) c.3843C>A (p.Leu1281=) c.3918C>A (p.Leu1306=) c.3780C>A (p.Leu1260=) n.373C>A n.454C>A c.3876C>A (p.Leu1292=) c.3840C>A (p.Leu1280=) | |
1 | g.10348702C>G | CA415885362 | KIF1B | c.3981C>G (p.Leu1327=) c.3843C>G (p.Leu1281=) c.3918C>G (p.Leu1306=) c.3780C>G (p.Leu1260=) n.373C>G n.454C>G c.3876C>G (p.Leu1292=) c.3840C>G (p.Leu1280=) | |
1 | g.10348702C>T | CA415885363 | KIF1B | c.3981C>T (p.Leu1327=) c.3843C>T (p.Leu1281=) c.3918C>T (p.Leu1306=) c.3780C>T (p.Leu1260=) n.373C>T n.454C>T c.3876C>T (p.Leu1292=) c.3840C>T (p.Leu1280=) | gnomAD v4 |
1 | g.10348703C>A | CA338343722 | KIF1B | c.3982C>A (p.His1328Asn) c.3844C>A (p.His1282Asn) c.3919C>A (p.His1307Asn) c.3781C>A (p.His1261Asn) n.374C>A n.455C>A c.3877C>A (p.His1293Asn) c.3841C>A (p.His1281Asn) | |
1 | g.10348703C>G | CA338343737 | KIF1B | c.3982C>G (p.His1328Asp) c.3844C>G (p.His1282Asp) c.3919C>G (p.His1307Asp) c.3781C>G (p.His1261Asp) n.374C>G n.455C>G c.3877C>G (p.His1293Asp) c.3841C>G (p.His1281Asp) | |
1 | g.10348703C>T | CA338343740 | KIF1B | c.3982C>T (p.His1328Tyr) c.3844C>T (p.His1282Tyr) c.3919C>T (p.His1307Tyr) c.3781C>T (p.His1261Tyr) n.374C>T n.455C>T c.3877C>T (p.His1293Tyr) c.3841C>T (p.His1281Tyr) | |
1 | g.10348704A= | CA1153147284 | KIF1B | c.3983A= (p.His1328=) c.3845A= (p.His1282=) c.3920A= (p.His1307=) c.3782A= (p.His1261=) n.375A= n.456A= c.3878A= (p.His1293=) c.3842A= (p.His1281=) | |
1 | g.10348704A>C | CA338343742 | KIF1B | c.3983A>C (p.His1328Pro) c.3845A>C (p.His1282Pro) c.3920A>C (p.His1307Pro) c.3782A>C (p.His1261Pro) n.375A>C n.456A>C c.3878A>C (p.His1293Pro) c.3842A>C (p.His1281Pro) | ClinVar |
1 | g.10348704A>G | CA338343744 | KIF1B | c.3983A>G (p.His1328Arg) c.3845A>G (p.His1282Arg) c.3920A>G (p.His1307Arg) c.3782A>G (p.His1261Arg) n.375A>G n.456A>G c.3878A>G (p.His1293Arg) c.3842A>G (p.His1281Arg) | |
1 | g.10348704A>T | CA338343749 | KIF1B | c.3983A>T (p.His1328Leu) c.3845A>T (p.His1282Leu) c.3920A>T (p.His1307Leu) c.3782A>T (p.His1261Leu) n.375A>T n.456A>T c.3878A>T (p.His1293Leu) c.3842A>T (p.His1281Leu) | dbSNP |
1 | g.10348705T>A | CA338343751 | KIF1B | c.3984T>A (p.His1328Gln) c.3846T>A (p.His1282Gln) c.3921T>A (p.His1307Gln) c.3783T>A (p.His1261Gln) n.376T>A n.457T>A c.3879T>A (p.His1293Gln) c.3843T>A (p.His1281Gln) | |
1 | g.10348705T>C | CA415885364 | KIF1B | c.3984T>C (p.His1328=) c.3846T>C (p.His1282=) c.3921T>C (p.His1307=) c.3783T>C (p.His1261=) n.376T>C n.457T>C c.3879T>C (p.His1293=) c.3843T>C (p.His1281=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10348705T>G | CA338343752 | KIF1B | c.3984T>G (p.His1328Gln) c.3846T>G (p.His1282Gln) c.3921T>G (p.His1307Gln) c.3783T>G (p.His1261Gln) n.376T>G n.457T>G c.3879T>G (p.His1293Gln) c.3843T>G (p.His1281Gln) | |
1 | g.10348705T= | CA1153147285 | KIF1B | c.3984T= (p.His1328=) c.3846T= (p.His1282=) c.3921T= (p.His1307=) c.3783T= (p.His1261=) n.376T= n.457T= c.3879T= (p.His1293=) c.3843T= (p.His1281=) | |
1 | g.10348706T>A | CA338343760 | KIF1B | c.3985T>A (p.Trp1329Arg) c.3847T>A (p.Trp1283Arg) c.3922T>A (p.Trp1308Arg) c.3784T>A (p.Trp1262Arg) n.377T>A n.458T>A c.3880T>A (p.Trp1294Arg) c.3844T>A (p.Trp1282Arg) | |
1 | g.10348706T>C | CA338343758 | KIF1B | c.3985T>C (p.Trp1329Arg) c.3847T>C (p.Trp1283Arg) c.3922T>C (p.Trp1308Arg) c.3784T>C (p.Trp1262Arg) n.377T>C n.458T>C c.3880T>C (p.Trp1294Arg) c.3844T>C (p.Trp1282Arg) | ClinVar |
1 | g.10348706T>G | CA338343755 | KIF1B | c.3985T>G (p.Trp1329Gly) c.3847T>G (p.Trp1283Gly) c.3922T>G (p.Trp1308Gly) c.3784T>G (p.Trp1262Gly) n.377T>G n.458T>G c.3880T>G (p.Trp1294Gly) c.3844T>G (p.Trp1282Gly) | gnomAD v4 |
1 | g.10348707G>A | CA338343762 | KIF1B | c.3986G>A (p.Trp1329Ter) c.3848G>A (p.Trp1283Ter) c.3923G>A (p.Trp1308Ter) c.3785G>A (p.Trp1262Ter) n.378G>A n.459G>A c.3881G>A (p.Trp1294Ter) c.3845G>A (p.Trp1282Ter) | |
1 | g.10348707G>C | CA338343763 | KIF1B | c.3986G>C (p.Trp1329Ser) c.3848G>C (p.Trp1283Ser) c.3923G>C (p.Trp1308Ser) c.3785G>C (p.Trp1262Ser) n.378G>C n.459G>C c.3881G>C (p.Trp1294Ser) c.3845G>C (p.Trp1282Ser) | |
1 | g.10348707G>T | CA338343766 | KIF1B | c.3986G>T (p.Trp1329Leu) c.3848G>T (p.Trp1283Leu) c.3923G>T (p.Trp1308Leu) c.3785G>T (p.Trp1262Leu) n.378G>T n.459G>T c.3881G>T (p.Trp1294Leu) c.3845G>T (p.Trp1282Leu) | |
1 | g.10348708G>A | CA338343768 | KIF1B | c.3987G>A (p.Trp1329Ter) c.3849G>A (p.Trp1283Ter) c.3924G>A (p.Trp1308Ter) c.3786G>A (p.Trp1262Ter) n.379G>A n.460G>A c.3882G>A (p.Trp1294Ter) c.3846G>A (p.Trp1282Ter) | |
1 | g.10348708G>C | CA338343769 | KIF1B | c.3987G>C (p.Trp1329Cys) c.3849G>C (p.Trp1283Cys) c.3924G>C (p.Trp1308Cys) c.3786G>C (p.Trp1262Cys) n.379G>C n.460G>C c.3882G>C (p.Trp1294Cys) c.3846G>C (p.Trp1282Cys) | |
1 | g.10348708G>T | CA338343772 | KIF1B | c.3987G>T (p.Trp1329Cys) c.3849G>T (p.Trp1283Cys) c.3924G>T (p.Trp1308Cys) c.3786G>T (p.Trp1262Cys) n.379G>T n.460G>T c.3882G>T (p.Trp1294Cys) c.3846G>T (p.Trp1282Cys) | |
1 | g.10348709A= | CA1153147286 | KIF1B | c.3988A= (p.Lys1330=) c.3850A= (p.Lys1284=) c.3925A= (p.Lys1309=) c.3787A= (p.Lys1263=) n.380A= n.461A= c.3883A= (p.Lys1295=) c.3847A= (p.Lys1283=) | |
1 | g.10348709A>C | CA338343775 | KIF1B | c.3988A>C (p.Lys1330Gln) c.3850A>C (p.Lys1284Gln) c.3925A>C (p.Lys1309Gln) c.3787A>C (p.Lys1263Gln) n.380A>C n.461A>C c.3883A>C (p.Lys1295Gln) c.3847A>C (p.Lys1283Gln) | |
1 | g.10348709A>G | CA244803 | KIF1B | c.3988A>G (p.Lys1330Glu) c.3850A>G (p.Lys1284Glu) c.3925A>G (p.Lys1309Glu) c.3787A>G (p.Lys1263Glu) n.380A>G n.461A>G c.3883A>G (p.Lys1295Glu) c.3847A>G (p.Lys1283Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10348709A>T | CA338343778 | KIF1B | c.3988A>T (p.Lys1330Ter) c.3850A>T (p.Lys1284Ter) c.3925A>T (p.Lys1309Ter) c.3787A>T (p.Lys1263Ter) n.380A>T n.461A>T c.3883A>T (p.Lys1295Ter) c.3847A>T (p.Lys1283Ter) | |
1 | g.10348710A>C | CA338343782 | KIF1B | c.3989A>C (p.Lys1330Thr) c.3851A>C (p.Lys1284Thr) c.3926A>C (p.Lys1309Thr) c.3788A>C (p.Lys1263Thr) n.381A>C n.462A>C c.3884A>C (p.Lys1295Thr) c.3848A>C (p.Lys1283Thr) | |
1 | g.10348710A>G | CA338343784 | KIF1B | c.3989A>G (p.Lys1330Arg) c.3851A>G (p.Lys1284Arg) c.3926A>G (p.Lys1309Arg) c.3788A>G (p.Lys1263Arg) n.381A>G n.462A>G c.3884A>G (p.Lys1295Arg) c.3848A>G (p.Lys1283Arg) | |
1 | g.10348710A>T | CA338343786 | KIF1B | c.3989A>T (p.Lys1330Ile) c.3851A>T (p.Lys1284Ile) c.3926A>T (p.Lys1309Ile) c.3788A>T (p.Lys1263Ile) n.381A>T n.462A>T c.3884A>T (p.Lys1295Ile) c.3848A>T (p.Lys1283Ile) | |
1 | g.10348711A= | CA1153147287 | KIF1B | c.3990A= (p.Lys1330=) c.3852A= (p.Lys1284=) c.3927A= (p.Lys1309=) c.3789A= (p.Lys1263=) n.382A= n.463A= c.3885A= (p.Lys1295=) c.3849A= (p.Lys1283=) | |
1 | g.10348711A>C | CA338343789 | KIF1B | c.3990A>C (p.Lys1330Asn) c.3852A>C (p.Lys1284Asn) c.3927A>C (p.Lys1309Asn) c.3789A>C (p.Lys1263Asn) n.382A>C n.463A>C c.3885A>C (p.Lys1295Asn) c.3849A>C (p.Lys1283Asn) | ClinVar |
1 | g.10348711A>G | CA581921 | KIF1B | c.3990A>G (p.Lys1330=) c.3852A>G (p.Lys1284=) c.3927A>G (p.Lys1309=) c.3789A>G (p.Lys1263=) n.382A>G n.463A>G c.3885A>G (p.Lys1295=) c.3849A>G (p.Lys1283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10348711A>T | CA338343792 | KIF1B | c.3990A>T (p.Lys1330Asn) c.3852A>T (p.Lys1284Asn) c.3927A>T (p.Lys1309Asn) c.3789A>T (p.Lys1263Asn) n.382A>T n.463A>T c.3885A>T (p.Lys1295Asn) c.3849A>T (p.Lys1283Asn) | |
1 | g.10348712G>A | CA338343795 | KIF1B | c.3991G>A (p.Asp1331Asn) c.3853G>A (p.Asp1285Asn) c.3928G>A (p.Asp1310Asn) c.3790G>A (p.Asp1264Asn) n.383G>A n.464G>A c.3886G>A (p.Asp1296Asn) c.3850G>A (p.Asp1284Asn) | |
1 | g.10348712G>C | CA338343799 | KIF1B | c.3991G>C (p.Asp1331His) c.3853G>C (p.Asp1285His) c.3928G>C (p.Asp1310His) c.3790G>C (p.Asp1264His) n.383G>C n.464G>C c.3886G>C (p.Asp1296His) c.3850G>C (p.Asp1284His) | |
1 | g.10348712G>T | CA338343797 | KIF1B | c.3991G>T (p.Asp1331Tyr) c.3853G>T (p.Asp1285Tyr) c.3928G>T (p.Asp1310Tyr) c.3790G>T (p.Asp1264Tyr) n.383G>T n.464G>T c.3886G>T (p.Asp1296Tyr) c.3850G>T (p.Asp1284Tyr) | |
1 | g.10348713A>C | CA338343801 | KIF1B | c.3992A>C (p.Asp1331Ala) c.3854A>C (p.Asp1285Ala) c.3929A>C (p.Asp1310Ala) c.3791A>C (p.Asp1264Ala) n.384A>C n.465A>C c.3887A>C (p.Asp1296Ala) c.3851A>C (p.Asp1284Ala) | |
1 | g.10348713A>G | CA338343803 | KIF1B | c.3992A>G (p.Asp1331Gly) c.3854A>G (p.Asp1285Gly) c.3929A>G (p.Asp1310Gly) c.3791A>G (p.Asp1264Gly) n.384A>G n.465A>G c.3887A>G (p.Asp1296Gly) c.3851A>G (p.Asp1284Gly) | gnomAD v4 |
1 | g.10348713A>T | CA338343805 | KIF1B | c.3992A>T (p.Asp1331Val) c.3854A>T (p.Asp1285Val) c.3929A>T (p.Asp1310Val) c.3791A>T (p.Asp1264Val) n.384A>T n.465A>T c.3887A>T (p.Asp1296Val) c.3851A>T (p.Asp1284Val) | |
1 | g.10348714T>A | CA338343806 | KIF1B | c.3993T>A (p.Asp1331Glu) c.3855T>A (p.Asp1285Glu) c.3930T>A (p.Asp1310Glu) c.3792T>A (p.Asp1264Glu) n.385T>A n.466T>A c.3888T>A (p.Asp1296Glu) c.3852T>A (p.Asp1284Glu) | ClinVar |
1 | g.10348714T>C | CA415885365 | KIF1B | c.3993T>C (p.Asp1331=) c.3855T>C (p.Asp1285=) c.3930T>C (p.Asp1310=) c.3792T>C (p.Asp1264=) n.385T>C n.466T>C c.3888T>C (p.Asp1296=) c.3852T>C (p.Asp1284=) | |
1 | g.10348714T>G | CA338343808 | KIF1B | c.3993T>G (p.Asp1331Glu) c.3855T>G (p.Asp1285Glu) c.3930T>G (p.Asp1310Glu) c.3792T>G (p.Asp1264Glu) n.385T>G n.466T>G c.3888T>G (p.Asp1296Glu) c.3852T>G (p.Asp1284Glu) | |
1 | g.10348715G>A | CA338343812 | KIF1B | c.3994G>A (p.Val1332Ile) c.3856G>A (p.Val1286Ile) c.3931G>A (p.Val1311Ile) c.3793G>A (p.Val1265Ile) n.386G>A n.467G>A c.3889G>A (p.Val1297Ile) c.3853G>A (p.Val1285Ile) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.10348715G>C | CA338343813 | KIF1B | c.3994G>C (p.Val1332Leu) c.3856G>C (p.Val1286Leu) c.3931G>C (p.Val1311Leu) c.3793G>C (p.Val1265Leu) n.386G>C n.467G>C c.3889G>C (p.Val1297Leu) c.3853G>C (p.Val1285Leu) | |
1 | g.10348715G= | CA1153147288 | KIF1B | c.3994G= (p.Val1332=) c.3856G= (p.Val1286=) c.3931G= (p.Val1311=) c.3793G= (p.Val1265=) n.386G= n.467G= c.3889G= (p.Val1297=) c.3853G= (p.Val1285=) | |
1 | g.10348715G>T | CA338343814 | KIF1B | c.3994G>T (p.Val1332Phe) c.3856G>T (p.Val1286Phe) c.3931G>T (p.Val1311Phe) c.3793G>T (p.Val1265Phe) n.386G>T n.467G>T c.3889G>T (p.Val1297Phe) c.3853G>T (p.Val1285Phe) | |
1 | g.10348716T>A | CA338343816 | KIF1B | c.3995T>A (p.Val1332Asp) c.3857T>A (p.Val1286Asp) c.3932T>A (p.Val1311Asp) c.3794T>A (p.Val1265Asp) n.387T>A n.468T>A c.3890T>A (p.Val1297Asp) c.3854T>A (p.Val1285Asp) | |
1 | g.10348716T>C | CA338343819 | KIF1B | c.3995T>C (p.Val1332Ala) c.3857T>C (p.Val1286Ala) c.3932T>C (p.Val1311Ala) c.3794T>C (p.Val1265Ala) n.387T>C n.468T>C c.3890T>C (p.Val1297Ala) c.3854T>C (p.Val1285Ala) | |
1 | g.10348716T>G | CA338343821 | KIF1B | c.3995T>G (p.Val1332Gly) c.3857T>G (p.Val1286Gly) c.3932T>G (p.Val1311Gly) c.3794T>G (p.Val1265Gly) n.387T>G n.468T>G c.3890T>G (p.Val1297Gly) c.3854T>G (p.Val1285Gly) | |
1 | g.10348717T>A | CA415885366 | KIF1B | c.3996T>A (p.Val1332=) c.3858T>A (p.Val1286=) c.3933T>A (p.Val1311=) c.3795T>A (p.Val1265=) n.388T>A n.469T>A c.3891T>A (p.Val1297=) c.3855T>A (p.Val1285=) | |
1 | g.10348717T>C | CA415885367 | KIF1B | c.3996T>C (p.Val1332=) c.3858T>C (p.Val1286=) c.3933T>C (p.Val1311=) c.3795T>C (p.Val1265=) n.388T>C n.469T>C c.3891T>C (p.Val1297=) c.3855T>C (p.Val1285=) | |
1 | g.10348717T>G | CA415885368 | KIF1B | c.3996T>G (p.Val1332=) c.3858T>G (p.Val1286=) c.3933T>G (p.Val1311=) c.3795T>G (p.Val1265=) n.388T>G n.469T>G c.3891T>G (p.Val1297=) c.3855T>G (p.Val1285=) | |
1 | g.10348718C>A | CA338343829 | KIF1B | c.3997C>A (p.Arg1333Ser) c.3859C>A (p.Arg1287Ser) c.3934C>A (p.Arg1312Ser) c.3796C>A (p.Arg1266Ser) n.389C>A n.470C>A c.3892C>A (p.Arg1298Ser) c.3856C>A (p.Arg1286Ser) | gnomAD v4 |
1 | g.10348718C= | CA1153147289 | KIF1B | c.3997C= (p.Arg1333=) c.3859C= (p.Arg1287=) c.3934C= (p.Arg1312=) c.3796C= (p.Arg1266=) n.389C= n.470C= c.3892C= (p.Arg1298=) c.3856C= (p.Arg1286=) | |
1 | g.10348718C>G | CA338343824 | KIF1B | c.3997C>G (p.Arg1333Gly) c.3859C>G (p.Arg1287Gly) c.3934C>G (p.Arg1312Gly) c.3796C>G (p.Arg1266Gly) n.389C>G n.470C>G c.3892C>G (p.Arg1298Gly) c.3856C>G (p.Arg1286Gly) | |
1 | g.10348718C>T | CA581922 | KIF1B | c.3997C>T (p.Arg1333Cys) c.3859C>T (p.Arg1287Cys) c.3934C>T (p.Arg1312Cys) c.3796C>T (p.Arg1266Cys) n.389C>T n.470C>T c.3892C>T (p.Arg1298Cys) c.3856C>T (p.Arg1286Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.10348719G>A | CA581923 | KIF1B | c.3998G>A (p.Arg1333His) c.3860G>A (p.Arg1287His) c.3935G>A (p.Arg1312His) c.3797G>A (p.Arg1266His) n.390G>A n.471G>A c.3893G>A (p.Arg1298His) c.3857G>A (p.Arg1286His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10348719G>C | CA338343834 | KIF1B | c.3998G>C (p.Arg1333Pro) c.3860G>C (p.Arg1287Pro) c.3935G>C (p.Arg1312Pro) c.3797G>C (p.Arg1266Pro) n.390G>C n.471G>C c.3893G>C (p.Arg1298Pro) c.3857G>C (p.Arg1286Pro) | |
1 | g.10348719G= | CA1153147290 | KIF1B | c.3998G= (p.Arg1333=) c.3860G= (p.Arg1287=) c.3935G= (p.Arg1312=) c.3797G= (p.Arg1266=) n.390G= n.471G= c.3893G= (p.Arg1298=) c.3857G= (p.Arg1286=) | |
1 | g.10348719G>T | CA338343835 | KIF1B | c.3998G>T (p.Arg1333Leu) c.3860G>T (p.Arg1287Leu) c.3935G>T (p.Arg1312Leu) c.3797G>T (p.Arg1266Leu) n.390G>T n.471G>T c.3893G>T (p.Arg1298Leu) c.3857G>T (p.Arg1286Leu) | |
1 | g.10348720T>A | CA415885369 | KIF1B | c.3999T>A (p.Arg1333=) c.3861T>A (p.Arg1287=) c.3936T>A (p.Arg1312=) c.3798T>A (p.Arg1266=) n.391T>A n.472T>A c.3894T>A (p.Arg1298=) c.3858T>A (p.Arg1286=) | |
1 | g.10348720T>C | CA581924 | KIF1B | c.3999T>C (p.Arg1333=) c.3861T>C (p.Arg1287=) c.3936T>C (p.Arg1312=) c.3798T>C (p.Arg1266=) n.391T>C n.472T>C c.3894T>C (p.Arg1298=) c.3858T>C (p.Arg1286=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10348720T>G | CA415885370 | KIF1B | c.3999T>G (p.Arg1333=) c.3861T>G (p.Arg1287=) c.3936T>G (p.Arg1312=) c.3798T>G (p.Arg1266=) n.391T>G n.472T>G c.3894T>G (p.Arg1298=) c.3858T>G (p.Arg1286=) | |
1 | g.10348720T= | CA1153147291 | KIF1B | c.3999T= (p.Arg1333=) c.3861T= (p.Arg1287=) c.3936T= (p.Arg1312=) c.3798T= (p.Arg1266=) n.391T= n.472T= c.3894T= (p.Arg1298=) c.3858T= (p.Arg1286=) | |
1 | g.10348721G>A | CA338343837 | KIF1B | c.4000G>A (p.Glu1334Lys) c.3862G>A (p.Glu1288Lys) c.3937G>A (p.Glu1313Lys) c.3799G>A (p.Glu1267Lys) n.392G>A n.473G>A c.3895G>A (p.Glu1299Lys) c.3859G>A (p.Glu1287Lys) | |
1 | g.10348721G>C | CA338343840 | KIF1B | c.4000G>C (p.Glu1334Gln) c.3862G>C (p.Glu1288Gln) c.3937G>C (p.Glu1313Gln) c.3799G>C (p.Glu1267Gln) n.392G>C n.473G>C c.3895G>C (p.Glu1299Gln) c.3859G>C (p.Glu1287Gln) | |
1 | g.10348721G>T | CA338343841 | KIF1B | c.4000G>T (p.Glu1334Ter) c.3862G>T (p.Glu1288Ter) c.3937G>T (p.Glu1313Ter) c.3799G>T (p.Glu1267Ter) n.392G>T n.473G>T c.3895G>T (p.Glu1299Ter) c.3859G>T (p.Glu1287Ter) | |
1 | g.10348722A>C | CA338343843 | KIF1B | c.4001A>C (p.Glu1334Ala) c.3863A>C (p.Glu1288Ala) c.3938A>C (p.Glu1313Ala) c.3800A>C (p.Glu1267Ala) n.393A>C n.474A>C c.3896A>C (p.Glu1299Ala) c.3860A>C (p.Glu1287Ala) | |
1 | g.10348722A>G | CA338343844 | KIF1B | c.4001A>G (p.Glu1334Gly) c.3863A>G (p.Glu1288Gly) c.3938A>G (p.Glu1313Gly) c.3800A>G (p.Glu1267Gly) n.393A>G n.474A>G c.3896A>G (p.Glu1299Gly) c.3860A>G (p.Glu1287Gly) | |
1 | g.10348722A>T | CA338343845 | KIF1B | c.4001A>T (p.Glu1334Val) c.3863A>T (p.Glu1288Val) c.3938A>T (p.Glu1313Val) c.3800A>T (p.Glu1267Val) n.393A>T n.474A>T c.3896A>T (p.Glu1299Val) c.3860A>T (p.Glu1287Val) | |
1 | g.10348723A>C | CA338343847 | KIF1B | c.4002A>C (p.Glu1334Asp) c.3864A>C (p.Glu1288Asp) c.3939A>C (p.Glu1313Asp) c.3801A>C (p.Glu1267Asp) n.394A>C n.475A>C c.3897A>C (p.Glu1299Asp) c.3861A>C (p.Glu1287Asp) | |
1 | g.10348723A>G | CA415885371 | KIF1B | c.4002A>G (p.Glu1334=) c.3864A>G (p.Glu1288=) c.3939A>G (p.Glu1313=) c.3801A>G (p.Glu1267=) n.394A>G n.475A>G c.3897A>G (p.Glu1299=) c.3861A>G (p.Glu1287=) | |
1 | g.10348723A>T | CA338343850 | KIF1B | c.4002A>T (p.Glu1334Asp) c.3864A>T (p.Glu1288Asp) c.3939A>T (p.Glu1313Asp) c.3801A>T (p.Glu1267Asp) n.394A>T n.475A>T c.3897A>T (p.Glu1299Asp) c.3861A>T (p.Glu1287Asp) | |
1 | g.10348724C>A | CA338343854 | KIF1B | c.4003C>A (p.Leu1335Met) c.3865C>A (p.Leu1289Met) c.3940C>A (p.Leu1314Met) c.3802C>A (p.Leu1268Met) n.395C>A n.476C>A c.3898C>A (p.Leu1300Met) c.3862C>A (p.Leu1288Met) | |
1 | g.10348724C>G | CA338343851 | KIF1B | c.4003C>G (p.Leu1335Val) c.3865C>G (p.Leu1289Val) c.3940C>G (p.Leu1314Val) c.3802C>G (p.Leu1268Val) n.395C>G n.476C>G c.3898C>G (p.Leu1300Val) c.3862C>G (p.Leu1288Val) | |
1 | g.10348724C>T | CA415885372 | KIF1B | c.4003C>T (p.Leu1335=) c.3865C>T (p.Leu1289=) c.3940C>T (p.Leu1314=) c.3802C>T (p.Leu1268=) n.395C>T n.476C>T c.3898C>T (p.Leu1300=) c.3862C>T (p.Leu1288=) | gnomAD v4 |
1 | g.10348725T>A | CA338343855 | KIF1B | c.4004T>A (p.Leu1335Gln) c.3866T>A (p.Leu1289Gln) c.3941T>A (p.Leu1314Gln) c.3803T>A (p.Leu1268Gln) n.396T>A n.477T>A c.3899T>A (p.Leu1300Gln) c.3863T>A (p.Leu1288Gln) | |
1 | g.10348725T>C | CA338343857 | KIF1B | c.4004T>C (p.Leu1335Pro) c.3866T>C (p.Leu1289Pro) c.3941T>C (p.Leu1314Pro) c.3803T>C (p.Leu1268Pro) n.396T>C n.477T>C c.3899T>C (p.Leu1300Pro) c.3863T>C (p.Leu1288Pro) | |
1 | g.10348725T>G | CA338343859 | KIF1B | c.4004T>G (p.Leu1335Arg) c.3866T>G (p.Leu1289Arg) c.3941T>G (p.Leu1314Arg) c.3803T>G (p.Leu1268Arg) n.396T>G n.477T>G c.3899T>G (p.Leu1300Arg) c.3863T>G (p.Leu1288Arg) | |
1 | g.10348729_10348731del | CA2643183530 | KIF1B | c.4008_4010del (p.Val1337del) c.3870_3872del (p.Val1291del) c.3945_3947del (p.Val1316del) c.3807_3809del (p.Val1270del) n.400_402del n.481_483del c.3903_3905del (p.Val1302del) c.3867_3869del (p.Val1290del) | gnomAD v4 |
1 | g.10348726G>A | CA581925 | KIF1B | c.4005G>A (p.Leu1335=) c.3867G>A (p.Leu1289=) c.3942G>A (p.Leu1314=) c.3804G>A (p.Leu1268=) n.397G>A n.478G>A c.3900G>A (p.Leu1300=) c.3864G>A (p.Leu1288=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10348726G>C | CA415885374 | KIF1B | c.4005G>C (p.Leu1335=) c.3867G>C (p.Leu1289=) c.3942G>C (p.Leu1314=) c.3804G>C (p.Leu1268=) n.397G>C n.478G>C c.3900G>C (p.Leu1300=) c.3864G>C (p.Leu1288=) | |
1 | g.10348726G= | CA1144022853 | KIF1B | c.4005G= (p.Leu1335=) c.3867G= (p.Leu1289=) c.3942G= (p.Leu1314=) c.3804G= (p.Leu1268=) n.397G= n.478G= c.3900G= (p.Leu1300=) c.3864G= (p.Leu1288=) | |
1 | g.10348726G>T | CA415885373 | KIF1B | c.4005G>T (p.Leu1335=) c.3867G>T (p.Leu1289=) c.3942G>T (p.Leu1314=) c.3804G>T (p.Leu1268=) n.397G>T n.478G>T c.3900G>T (p.Leu1300=) c.3864G>T (p.Leu1288=) | |
1 | g.10348730_10348736del | CA2742436807 | KIF1B | c.4009_4012+3del c.3871_3874+3del c.3946_3949+3del c.3808_3811+3del n.401_404+3del n.482_485+3del c.3904_3907+3del c.3868_3871+3del | |
1 | g.10348727G>A | CA338343862 | KIF1B | c.4006G>A (p.Val1336Met) c.3868G>A (p.Val1290Met) c.3943G>A (p.Val1315Met) c.3805G>A (p.Val1269Met) n.398G>A n.479G>A c.3901G>A (p.Val1301Met) c.3865G>A (p.Val1289Met) | |
1 | g.10348727G>C | CA338343870 | KIF1B | c.4006G>C (p.Val1336Leu) c.3868G>C (p.Val1290Leu) c.3943G>C (p.Val1315Leu) c.3805G>C (p.Val1269Leu) n.398G>C n.479G>C c.3901G>C (p.Val1301Leu) c.3865G>C (p.Val1289Leu) | |
1 | g.10348727G>T | CA338343873 | KIF1B | c.4006G>T (p.Val1336Leu) c.3868G>T (p.Val1290Leu) c.3943G>T (p.Val1315Leu) c.3805G>T (p.Val1269Leu) n.398G>T n.479G>T c.3901G>T (p.Val1301Leu) c.3865G>T (p.Val1289Leu) | |
1 | g.10348728T>A | CA338343876 | KIF1B | c.4007T>A (p.Val1336Glu) c.3869T>A (p.Val1290Glu) c.3944T>A (p.Val1315Glu) c.3806T>A (p.Val1269Glu) n.399T>A n.480T>A c.3902T>A (p.Val1301Glu) c.3866T>A (p.Val1289Glu) | |
1 | g.10348728T>C | CA338343878 | KIF1B | c.4007T>C (p.Val1336Ala) c.3869T>C (p.Val1290Ala) c.3944T>C (p.Val1315Ala) c.3806T>C (p.Val1269Ala) n.399T>C n.480T>C c.3902T>C (p.Val1301Ala) c.3866T>C (p.Val1289Ala) | |
1 | g.10348728T>G | CA338343879 | KIF1B | c.4007T>G (p.Val1336Gly) c.3869T>G (p.Val1290Gly) c.3944T>G (p.Val1315Gly) c.3806T>G (p.Val1269Gly) n.399T>G n.480T>G c.3902T>G (p.Val1301Gly) c.3866T>G (p.Val1289Gly) | |
1 | g.10348729G>A | CA415885375 | KIF1B | c.4008G>A (p.Val1336=) c.3870G>A (p.Val1290=) c.3945G>A (p.Val1315=) c.3807G>A (p.Val1269=) n.400G>A n.481G>A c.3903G>A (p.Val1301=) c.3867G>A (p.Val1289=) | gnomAD v4 |
1 | g.10348729G>C | CA415885376 | KIF1B | c.4008G>C (p.Val1336=) c.3870G>C (p.Val1290=) c.3945G>C (p.Val1315=) c.3807G>C (p.Val1269=) n.400G>C n.481G>C c.3903G>C (p.Val1301=) c.3867G>C (p.Val1289=) | |
1 | g.10348729G>T | CA415885377 | KIF1B | c.4008G>T (p.Val1336=) c.3870G>T (p.Val1290=) c.3945G>T (p.Val1315=) c.3807G>T (p.Val1269=) n.400G>T n.481G>T c.3903G>T (p.Val1301=) c.3867G>T (p.Val1289=) | |
1 | g.10348730dup | CA2643183532 | KIF1B | c.4009dup (p.Val1337GlyfsTer7) c.3871dup (p.Val1291GlyfsTer7) c.3946dup (p.Val1316GlyfsTer7) c.3808dup (p.Val1270GlyfsTer7) n.401dup n.482dup c.3904dup (p.Val1302GlyfsTer7) c.3868dup (p.Val1290GlyfsTer7) | gnomAD v4 |
1 | g.10348730G>A | CA338343881 | KIF1B | c.4009G>A (p.Val1337Ile) c.3871G>A (p.Val1291Ile) c.3946G>A (p.Val1316Ile) c.3808G>A (p.Val1270Ile) n.401G>A n.482G>A c.3904G>A (p.Val1302Ile) c.3868G>A (p.Val1290Ile) | dbSNP |
1 | g.10348730G>C | CA338343883 | KIF1B | c.4009G>C (p.Val1337Leu) c.3871G>C (p.Val1291Leu) c.3946G>C (p.Val1316Leu) c.3808G>C (p.Val1270Leu) n.401G>C n.482G>C c.3904G>C (p.Val1302Leu) c.3868G>C (p.Val1290Leu) | |
1 | g.10348730G= | CA1153147293 | KIF1B | c.4009G= (p.Val1337=) c.3871G= (p.Val1291=) c.3946G= (p.Val1316=) c.3808G= (p.Val1270=) n.401G= n.482G= c.3904G= (p.Val1302=) c.3868G= (p.Val1290=) | |
1 | g.10348730G>T | CA338343884 | KIF1B | c.4009G>T (p.Val1337Leu) c.3871G>T (p.Val1291Leu) c.3946G>T (p.Val1316Leu) c.3808G>T (p.Val1270Leu) n.401G>T n.482G>T c.3904G>T (p.Val1302Leu) c.3868G>T (p.Val1290Leu) | |
1 | g.10348730_10348732delinsGTA | CA1153147292 | KIF1B | c.4009_4011delinsGTA (p.Val1337=) c.3871_3873delinsGTA (p.Val1291=) c.3946_3948delinsGTA (p.Val1316=) c.3808_3810delinsGTA (p.Val1270=) n.401_403delinsGTA n.482_484delinsGTA c.3904_3906delinsGTA (p.Val1302=) c.3868_3870delinsGTA (p.Val1290=) | |
1 | g.10348731T>A | CA338343893 | KIF1B | c.4010T>A (p.Val1337Glu) c.3872T>A (p.Val1291Glu) c.3947T>A (p.Val1316Glu) c.3809T>A (p.Val1270Glu) n.402T>A n.483T>A c.3905T>A (p.Val1302Glu) c.3869T>A (p.Val1290Glu) | |
1 | g.10348731T>C | CA338343889 | KIF1B | c.4010T>C (p.Val1337Ala) c.3872T>C (p.Val1291Ala) c.3947T>C (p.Val1316Ala) c.3809T>C (p.Val1270Ala) n.402T>C n.483T>C c.3905T>C (p.Val1302Ala) c.3869T>C (p.Val1290Ala) | |
1 | g.10348731T>G | CA338343892 | KIF1B | c.4010T>G (p.Val1337Gly) c.3872T>G (p.Val1291Gly) c.3947T>G (p.Val1316Gly) c.3809T>G (p.Val1270Gly) n.402T>G n.483T>G c.3905T>G (p.Val1302Gly) c.3869T>G (p.Val1290Gly) | |
1 | g.10348731_10348732del | CA581926 | KIF1B | c.4010_4011del (p.Val1337GlyfsTer6) c.3872_3873del (p.Val1291GlyfsTer6) c.3947_3948del (p.Val1316GlyfsTer6) c.3809_3810del (p.Val1270GlyfsTer6) n.402_403del n.483_484del c.3905_3906del (p.Val1302GlyfsTer6) c.3869_3870del (p.Val1290GlyfsTer6) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10348732A= | CA1147465071 | KIF1B | c.4011A= (p.Val1337=) c.3873A= (p.Val1291=) c.3948A= (p.Val1316=) c.3810A= (p.Val1270=) n.403A= n.484A= c.3906A= (p.Val1302=) c.3870A= (p.Val1290=) | |
1 | g.10348732A>C | CA415885379 | KIF1B | c.4011A>C (p.Val1337=) c.3873A>C (p.Val1291=) c.3948A>C (p.Val1316=) c.3810A>C (p.Val1270=) n.403A>C n.484A>C c.3906A>C (p.Val1302=) c.3870A>C (p.Val1290=) | |
1 | g.10348732A>G | CA415885378 | KIF1B | c.4011A>G (p.Val1337=) c.3873A>G (p.Val1291=) c.3948A>G (p.Val1316=) c.3810A>G (p.Val1270=) n.403A>G n.484A>G c.3906A>G (p.Val1302=) c.3870A>G (p.Val1290=) | gnomAD v4 |
1 | g.10348732A>T | CA581927 | KIF1B | c.4011A>T (p.Val1337=) c.3873A>T (p.Val1291=) c.3948A>T (p.Val1316=) c.3810A>T (p.Val1270=) n.403A>T n.484A>T c.3906A>T (p.Val1302=) c.3870A>T (p.Val1290=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10348732_10348733del | CA2643183533 | KIF1B | c.4011_4012del (p.Gly1338SerfsTer5) c.3873_3874del (p.Gly1292SerfsTer5) c.3948_3949del (p.Gly1317SerfsTer5) c.3810_3811del (p.Gly1271SerfsTer5) n.403_404del n.484_485del c.3906_3907del (p.Gly1303SerfsTer5) c.3870_3871del (p.Gly1291SerfsTer5) | gnomAD v4 |
1 | g.10348733G>A | CA338343896 | KIF1B | c.4012G>A (p.Gly1338Ser) c.3874G>A (p.Gly1292Ser) c.3949G>A (p.Gly1317Ser) c.3811G>A (p.Gly1271Ser) n.404G>A n.485G>A c.3907G>A (p.Gly1303Ser) c.3871G>A (p.Gly1291Ser) | |
1 | g.10348733G>C | CA338343897 | KIF1B | c.4012G>C (p.Gly1338Arg) c.3874G>C (p.Gly1292Arg) c.3949G>C (p.Gly1317Arg) c.3811G>C (p.Gly1271Arg) n.404G>C n.485G>C c.3907G>C (p.Gly1303Arg) c.3871G>C (p.Gly1291Arg) | |
1 | g.10348733G>T | CA338343898 | KIF1B | c.4012G>T (p.Gly1338Cys) c.3874G>T (p.Gly1292Cys) c.3949G>T (p.Gly1317Cys) c.3811G>T (p.Gly1271Cys) n.404G>T n.485G>T c.3907G>T (p.Gly1303Cys) c.3871G>T (p.Gly1291Cys) | |
1 | g.10348734G>A | CA338343899 | KIF1B | c.4012+1G>A (n.4012+1G>A) c.3874+1G>A (n.3874+1G>A) c.3949+1G>A (n.3949+1G>A) c.3811+1G>A (n.3811+1G>A) n.404+1G>A n.485+1G>A c.3907+1G>A (n.3907+1G>A) c.3871+1G>A (n.3871+1G>A) | |
1 | g.10348734G>C | CA338343900 | KIF1B | c.4012+1G>C (n.4012+1G>C) c.3874+1G>C (n.3874+1G>C) c.3949+1G>C (n.3949+1G>C) c.3811+1G>C (n.3811+1G>C) n.404+1G>C n.485+1G>C c.3907+1G>C (n.3907+1G>C) c.3871+1G>C (n.3871+1G>C) | |
1 | g.10348734G>T | CA338343902 | KIF1B | c.4012+1G>T (n.4012+1G>T) c.3874+1G>T (n.3874+1G>T) c.3949+1G>T (n.3949+1G>T) c.3811+1G>T (n.3811+1G>T) n.404+1G>T n.485+1G>T c.3907+1G>T (n.3907+1G>T) c.3871+1G>T (n.3871+1G>T) | gnomAD v4 |
1 | g.10348735T>A | CA338343903 | KIF1B | c.4012+2T>A (n.4012+2T>A) c.3874+2T>A (n.3874+2T>A) c.3949+2T>A (n.3949+2T>A) c.3811+2T>A (n.3811+2T>A) n.404+2T>A n.485+2T>A c.3907+2T>A (n.3907+2T>A) c.3871+2T>A (n.3871+2T>A) | |
1 | g.10348735T>C | CA338343904 | KIF1B | c.4012+2T>C (n.4012+2T>C) c.3874+2T>C (n.3874+2T>C) c.3949+2T>C (n.3949+2T>C) c.3811+2T>C (n.3811+2T>C) n.404+2T>C n.485+2T>C c.3907+2T>C (n.3907+2T>C) c.3871+2T>C (n.3871+2T>C) | |
1 | g.10348735T>G | CA338343906 | KIF1B | c.4012+2T>G (n.4012+2T>G) c.3874+2T>G (n.3874+2T>G) c.3949+2T>G (n.3949+2T>G) c.3811+2T>G (n.3811+2T>G) n.404+2T>G n.485+2T>G c.3907+2T>G (n.3907+2T>G) c.3871+2T>G (n.3871+2T>G) | dbSNP |
1 | g.10348735T= | CA1153147294 | KIF1B | c.4012+2T= (n.4012+2T=) c.3874+2T= (n.3874+2T=) c.3949+2T= (n.3949+2T=) c.3811+2T= (n.3811+2T=) n.404+2T= n.485+2T= c.3907+2T= (n.3907+2T=) c.3871+2T= (n.3871+2T=) | |
1 | g.10348737A= | CA1153147295 | KIF1B | c.4012+4A= (n.4012+4A=) c.3874+4A= (n.3874+4A=) c.3949+4A= (n.3949+4A=) c.3811+4A= (n.3811+4A=) n.404+4A= n.485+4A= c.3907+4A= (n.3907+4A=) c.3871+4A= (n.3871+4A=) | |
1 | g.10348737A>T | CA884725753 | KIF1B | c.4012+4A>T (n.4012+4A>T) c.3874+4A>T (n.3874+4A>T) c.3949+4A>T (n.3949+4A>T) c.3811+4A>T (n.3811+4A>T) n.404+4A>T n.485+4A>T c.3907+4A>T (n.3907+4A>T) c.3871+4A>T (n.3871+4A>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.10348738G>A | CA521151766 | KIF1B | c.4012+5G>A (n.4012+5G>A) c.3874+5G>A (n.3874+5G>A) c.3949+5G>A (n.3949+5G>A) c.3811+5G>A (n.3811+5G>A) n.404+5G>A n.485+5G>A c.3907+5G>A (n.3907+5G>A) c.3871+5G>A (n.3871+5G>A) | ClinVar dbSNP gnomAD v2 |
1 | g.10348738G= | CA1153147296 | KIF1B | c.4012+5G= (n.4012+5G=) c.3874+5G= (n.3874+5G=) c.3949+5G= (n.3949+5G=) c.3811+5G= (n.3811+5G=) n.404+5G= n.485+5G= c.3907+5G= (n.3907+5G=) c.3871+5G= (n.3871+5G=) | |
1 | g.10348739T>C | CA2592637064 | KIF1B | c.4012+6T>C (n.4012+6T>C) c.3874+6T>C (n.3874+6T>C) c.3949+6T>C (n.3949+6T>C) c.3811+6T>C (n.3811+6T>C) n.404+6T>C n.485+6T>C c.3907+6T>C (n.3907+6T>C) c.3871+6T>C (n.3871+6T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.10348740_10348741dup | CA2643183534 | KIF1B | c.4012+7_4012+8dup (n.4012+7_4012+8dup) c.3874+7_3874+8dup (n.3874+7_3874+8dup) c.3949+7_3949+8dup (n.3949+7_3949+8dup) c.3811+7_3811+8dup (n.3811+7_3811+8dup) n.404+7_404+8dup n.485+7_485+8dup c.3907+7_3907+8dup (n.3907+7_3907+8dup) c.3871+7_3871+8dup (n.3871+7_3871+8dup) | gnomAD v4 |
1 | g.10348741C>A | CA2643183535 | KIF1B | c.4012+8C>A (n.4012+8C>A) c.3874+8C>A (n.3874+8C>A) c.3949+8C>A (n.3949+8C>A) c.3811+8C>A (n.3811+8C>A) n.404+8C>A n.485+8C>A c.3907+8C>A (n.3907+8C>A) c.3871+8C>A (n.3871+8C>A) | gnomAD v4 |
1 | g.10348741C= | CA1153147297 | KIF1B | c.4012+8C= (n.4012+8C=) c.3874+8C= (n.3874+8C=) c.3949+8C= (n.3949+8C=) c.3811+8C= (n.3811+8C=) n.404+8C= n.485+8C= c.3907+8C= (n.3907+8C=) c.3871+8C= (n.3871+8C=) | |
1 | g.10348741C>G | CA521151769 | KIF1B | c.4012+8C>G (n.4012+8C>G) c.3874+8C>G (n.3874+8C>G) c.3949+8C>G (n.3949+8C>G) c.3811+8C>G (n.3811+8C>G) n.404+8C>G n.485+8C>G c.3907+8C>G (n.3907+8C>G) c.3871+8C>G (n.3871+8C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10348741C>T | CA581928 | KIF1B | c.4012+8C>T (n.4012+8C>T) c.3874+8C>T (n.3874+8C>T) c.3949+8C>T (n.3949+8C>T) c.3811+8C>T (n.3811+8C>T) n.404+8C>T n.485+8C>T c.3907+8C>T (n.3907+8C>T) c.3871+8C>T (n.3871+8C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10348742G>A | CA581929 | KIF1B | c.4012+9G>A (n.4012+9G>A) c.3874+9G>A (n.3874+9G>A) c.3949+9G>A (n.3949+9G>A) c.3811+9G>A (n.3811+9G>A) n.404+9G>A n.485+9G>A c.3907+9G>A (n.3907+9G>A) c.3871+9G>A (n.3871+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10348742G>C | CA2574206596 | KIF1B | c.4012+9G>C (n.4012+9G>C) c.3874+9G>C (n.3874+9G>C) c.3949+9G>C (n.3949+9G>C) c.3811+9G>C (n.3811+9G>C) n.404+9G>C n.485+9G>C c.3907+9G>C (n.3907+9G>C) c.3871+9G>C (n.3871+9G>C) | dbSNP |
1 | g.10348742G= | CA1153147298 | KIF1B | c.4012+9G= (n.4012+9G=) c.3874+9G= (n.3874+9G=) c.3949+9G= (n.3949+9G=) c.3811+9G= (n.3811+9G=) n.404+9G= n.485+9G= c.3907+9G= (n.3907+9G=) c.3871+9G= (n.3871+9G=) | |
1 | g.10348742_10348743dup | CA2739272252 | KIF1B | c.4012+9_4012+10dup (n.4012+9_4012+10dup) c.3874+9_3874+10dup (n.3874+9_3874+10dup) c.3949+9_3949+10dup (n.3949+9_3949+10dup) c.3811+9_3811+10dup (n.3811+9_3811+10dup) n.404+9_404+10dup n.485+9_485+10dup c.3907+9_3907+10dup (n.3907+9_3907+10dup) c.3871+9_3871+10dup (n.3871+9_3871+10dup) | ClinVar |
1 | g.10348745T= | CA1153147299 | KIF1B | c.4012+12T= (n.4012+12T=) c.3874+12T= (n.3874+12T=) c.3949+12T= (n.3949+12T=) c.3811+12T= (n.3811+12T=) n.404+12T= n.485+12T= c.3907+12T= (n.3907+12T=) c.3871+12T= (n.3871+12T=) | |
1 | g.10348745_10348746insTCTGG | CA1153147300 | KIF1B | c.4012+12_4012+13insTCTGG (n.4012+12_4012+13insTCTGG) c.3874+12_3874+13insTCTGG (n.3874+12_3874+13insTCTGG) c.3949+12_3949+13insTCTGG (n.3949+12_3949+13insTCTGG) c.3811+12_3811+13insTCTGG (n.3811+12_3811+13insTCTGG) n.404+12_404+13insTCTGG n.485+12_485+13insTCTGG c.3907+12_3907+13insTCTGG (n.3907+12_3907+13insTCTGG) c.3871+12_3871+13insTCTGG (n.3871+12_3871+13insTCTGG) | dbSNP |
1 | g.10348746C>A | CA2643183536 | KIF1B | c.4012+13C>A (n.4012+13C>A) c.3874+13C>A (n.3874+13C>A) c.3949+13C>A (n.3949+13C>A) c.3811+13C>A (n.3811+13C>A) n.404+13C>A n.485+13C>A c.3907+13C>A (n.3907+13C>A) c.3871+13C>A (n.3871+13C>A) | gnomAD v4 |
1 | g.10348747A= | CA1153147301 | KIF1B | c.4012+14A= (n.4012+14A=) c.3874+14A= (n.3874+14A=) c.3949+14A= (n.3949+14A=) c.3811+14A= (n.3811+14A=) n.404+14A= n.485+14A= c.3907+14A= (n.3907+14A=) c.3871+14A= (n.3871+14A=) | |
1 | g.10348747A>C | CA1153147302 | KIF1B | c.4012+14A>C (n.4012+14A>C) c.3874+14A>C (n.3874+14A>C) c.3949+14A>C (n.3949+14A>C) c.3811+14A>C (n.3811+14A>C) n.404+14A>C n.485+14A>C c.3907+14A>C (n.3907+14A>C) c.3871+14A>C (n.3871+14A>C) | dbSNP |
1 | g.10348747A>G | CA2643183537 | KIF1B | c.4012+14A>G (n.4012+14A>G) c.3874+14A>G (n.3874+14A>G) c.3949+14A>G (n.3949+14A>G) c.3811+14A>G (n.3811+14A>G) n.404+14A>G n.485+14A>G c.3907+14A>G (n.3907+14A>G) c.3871+14A>G (n.3871+14A>G) | gnomAD v4 |
1 | g.10348748T>G | CA1153147304 | KIF1B | c.4012+15T>G (n.4012+15T>G) c.3874+15T>G (n.3874+15T>G) c.3949+15T>G (n.3949+15T>G) c.3811+15T>G (n.3811+15T>G) n.404+15T>G n.485+15T>G c.3907+15T>G (n.3907+15T>G) c.3871+15T>G (n.3871+15T>G) | dbSNP |
1 | g.10348748T= | CA1153147303 | KIF1B | c.4012+15T= (n.4012+15T=) c.3874+15T= (n.3874+15T=) c.3949+15T= (n.3949+15T=) c.3811+15T= (n.3811+15T=) n.404+15T= n.485+15T= c.3907+15T= (n.3907+15T=) c.3871+15T= (n.3871+15T=) | |
1 | g.10348748_10348749del | CA2574206598 | KIF1B | c.4012+15_4012+16del (n.4012+15_4012+16del) c.3874+15_3874+16del (n.3874+15_3874+16del) c.3949+15_3949+16del (n.3949+15_3949+16del) c.3811+15_3811+16del (n.3811+15_3811+16del) n.404+15_404+16del n.485+15_485+16del c.3907+15_3907+16del (n.3907+15_3907+16del) c.3871+15_3871+16del (n.3871+15_3871+16del) | |
1 | g.10348749del | CA2643183538 | KIF1B | c.4012+16del (n.4012+16del) c.3874+16del (n.3874+16del) c.3949+16del (n.3949+16del) c.3811+16del (n.3811+16del) n.404+16del n.485+16del c.3907+16del (n.3907+16del) c.3871+16del (n.3871+16del) | gnomAD v4 |
1 | g.10348749C>A | CA2643183539 | KIF1B | c.4012+16C>A (n.4012+16C>A) c.3874+16C>A (n.3874+16C>A) c.3949+16C>A (n.3949+16C>A) c.3811+16C>A (n.3811+16C>A) n.404+16C>A n.485+16C>A c.3907+16C>A (n.3907+16C>A) c.3871+16C>A (n.3871+16C>A) | gnomAD v4 |
1 | g.10348749C= | CA1153147305 | KIF1B | c.4012+16C= (n.4012+16C=) c.3874+16C= (n.3874+16C=) c.3949+16C= (n.3949+16C=) c.3811+16C= (n.3811+16C=) n.404+16C= n.485+16C= c.3907+16C= (n.3907+16C=) c.3871+16C= (n.3871+16C=) | |
1 | g.10348749C>T | CA581930 | KIF1B | c.4012+16C>T (n.4012+16C>T) c.3874+16C>T (n.3874+16C>T) c.3949+16C>T (n.3949+16C>T) c.3811+16C>T (n.3811+16C>T) n.404+16C>T n.485+16C>T c.3907+16C>T (n.3907+16C>T) c.3871+16C>T (n.3871+16C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10348750A>G | CA2643183540 | KIF1B | c.4012+17A>G (n.4012+17A>G) c.3874+17A>G (n.3874+17A>G) c.3949+17A>G (n.3949+17A>G) c.3811+17A>G (n.3811+17A>G) n.404+17A>G n.485+17A>G c.3907+17A>G (n.3907+17A>G) c.3871+17A>G (n.3871+17A>G) | gnomAD v4 |
1 | g.10348750A>T | CA2574206601 | KIF1B | c.4012+17A>T (n.4012+17A>T) c.3874+17A>T (n.3874+17A>T) c.3949+17A>T (n.3949+17A>T) c.3811+17A>T (n.3811+17A>T) n.404+17A>T n.485+17A>T c.3907+17A>T (n.3907+17A>T) c.3871+17A>T (n.3871+17A>T) | |
1 | g.10348751G>A | CA581931 | KIF1B | c.4012+18G>A (n.4012+18G>A) c.3874+18G>A (n.3874+18G>A) c.3949+18G>A (n.3949+18G>A) c.3811+18G>A (n.3811+18G>A) n.404+18G>A n.485+18G>A c.3907+18G>A (n.3907+18G>A) c.3871+18G>A (n.3871+18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10348751G>C | CA2643183541 | KIF1B | c.4012+18G>C (n.4012+18G>C) c.3874+18G>C (n.3874+18G>C) c.3949+18G>C (n.3949+18G>C) c.3811+18G>C (n.3811+18G>C) n.404+18G>C n.485+18G>C c.3907+18G>C (n.3907+18G>C) c.3871+18G>C (n.3871+18G>C) | gnomAD v4 |
1 | g.10348751G= | CA1153147306 | KIF1B | c.4012+18G= (n.4012+18G=) c.3874+18G= (n.3874+18G=) c.3949+18G= (n.3949+18G=) c.3811+18G= (n.3811+18G=) n.404+18G= n.485+18G= c.3907+18G= (n.3907+18G=) c.3871+18G= (n.3871+18G=) | |
1 | g.10348752C>A | CA2574206603 | KIF1B | c.4012+19C>A (n.4012+19C>A) c.3874+19C>A (n.3874+19C>A) c.3949+19C>A (n.3949+19C>A) c.3811+19C>A (n.3811+19C>A) n.404+19C>A n.485+19C>A c.3907+19C>A (n.3907+19C>A) c.3871+19C>A (n.3871+19C>A) | gnomAD v4 |
1 | g.10348752C>T | CA2643183542 | KIF1B | c.4012+19C>T (n.4012+19C>T) c.3874+19C>T (n.3874+19C>T) c.3949+19C>T (n.3949+19C>T) c.3811+19C>T (n.3811+19C>T) n.404+19C>T n.485+19C>T c.3907+19C>T (n.3907+19C>T) c.3871+19C>T (n.3871+19C>T) | gnomAD v4 |
1 | g.10348753C>A | CA2574206604 | KIF1B | c.4012+20C>A (n.4012+20C>A) c.3874+20C>A (n.3874+20C>A) c.3949+20C>A (n.3949+20C>A) c.3811+20C>A (n.3811+20C>A) n.404+20C>A n.485+20C>A c.3907+20C>A (n.3907+20C>A) c.3871+20C>A (n.3871+20C>A) | gnomAD v4 |
1 | g.10348755A= | CA1153147307 | KIF1B | c.4012+22A= (n.4012+22A=) c.3874+22A= (n.3874+22A=) c.3949+22A= (n.3949+22A=) c.3811+22A= (n.3811+22A=) n.404+22A= n.485+22A= c.3907+22A= (n.3907+22A=) c.3871+22A= (n.3871+22A=) | |
1 | g.10348756_10348757delinsGG | CA1140525021 | KIF1B | c.4012+23_4012+24delinsGG (n.4012+23_4012+24delinsGG) c.3874+23_3874+24delinsGG (n.3874+23_3874+24delinsGG) c.3949+23_3949+24delinsGG (n.3949+23_3949+24delinsGG) c.3811+23_3811+24delinsGG (n.3811+23_3811+24delinsGG) n.404+23_404+24delinsGG n.485+23_485+24delinsGG c.3907+23_3907+24delinsGG (n.3907+23_3907+24delinsGG) c.3871+23_3871+24delinsGG (n.3871+23_3871+24delinsGG) | |
1 | g.10348757dup | CA17846354 | KIF1B | c.4012+24dup (n.4012+24dup) c.3874+24dup (n.3874+24dup) c.3949+24dup (n.3949+24dup) c.3811+24dup (n.3811+24dup) n.404+24dup n.485+24dup c.3907+24dup (n.3907+24dup) c.3871+24dup (n.3871+24dup) | dbSNP |
1 | g.10348757G>A | CA521151775 | KIF1B | c.4012+24G>A (n.4012+24G>A) c.3874+24G>A (n.3874+24G>A) c.3949+24G>A (n.3949+24G>A) c.3811+24G>A (n.3811+24G>A) n.404+24G>A n.485+24G>A c.3907+24G>A (n.3907+24G>A) c.3871+24G>A (n.3871+24G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10348757G>C | CA581932 | KIF1B | c.4012+24G>C (n.4012+24G>C) c.3874+24G>C (n.3874+24G>C) c.3949+24G>C (n.3949+24G>C) c.3811+24G>C (n.3811+24G>C) n.404+24G>C n.485+24G>C c.3907+24G>C (n.3907+24G>C) c.3871+24G>C (n.3871+24G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10348757G= | CA1153147308 | KIF1B | c.4012+24G= (n.4012+24G=) c.3874+24G= (n.3874+24G=) c.3949+24G= (n.3949+24G=) c.3811+24G= (n.3811+24G=) n.404+24G= n.485+24G= c.3907+24G= (n.3907+24G=) c.3871+24G= (n.3871+24G=) | |
1 | g.10348757G>T | CA2643183543 | KIF1B | c.4012+24G>T (n.4012+24G>T) c.3874+24G>T (n.3874+24G>T) c.3949+24G>T (n.3949+24G>T) c.3811+24G>T (n.3811+24G>T) n.404+24G>T n.485+24G>T c.3907+24G>T (n.3907+24G>T) c.3871+24G>T (n.3871+24G>T) | gnomAD v4 |
1 | g.10348758A= | CA1143641470 | KIF1B | c.4012+25A= (n.4012+25A=) c.3874+25A= (n.3874+25A=) c.3949+25A= (n.3949+25A=) c.3811+25A= (n.3811+25A=) n.404+25A= n.485+25A= c.3907+25A= (n.3907+25A=) c.3871+25A= (n.3871+25A=) | |
1 | g.10348758A>G | CA581933 | KIF1B | c.4012+25A>G (n.4012+25A>G) c.3874+25A>G (n.3874+25A>G) c.3949+25A>G (n.3949+25A>G) c.3811+25A>G (n.3811+25A>G) n.404+25A>G n.485+25A>G c.3907+25A>G (n.3907+25A>G) c.3871+25A>G (n.3871+25A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10348759T>G | CA1153147310 | KIF1B | c.4012+26T>G (n.4012+26T>G) c.3874+26T>G (n.3874+26T>G) c.3949+26T>G (n.3949+26T>G) c.3811+26T>G (n.3811+26T>G) n.404+26T>G n.485+26T>G c.3907+26T>G (n.3907+26T>G) c.3871+26T>G (n.3871+26T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.10348759T= | CA1153147309 | KIF1B | c.4012+26T= (n.4012+26T=) c.3874+26T= (n.3874+26T=) c.3949+26T= (n.3949+26T=) c.3811+26T= (n.3811+26T=) n.404+26T= n.485+26T= c.3907+26T= (n.3907+26T=) c.3871+26T= (n.3871+26T=) | |
1 | g.10348760A= | CA1144947251 | KIF1B | c.4012+27A= (n.4012+27A=) c.3874+27A= (n.3874+27A=) c.3949+27A= (n.3949+27A=) c.3811+27A= (n.3811+27A=) n.404+27A= n.485+27A= c.3907+27A= (n.3907+27A=) c.3871+27A= (n.3871+27A=) | |
1 | g.10348760A>G | CA581934 | KIF1B | c.4012+27A>G (n.4012+27A>G) c.3874+27A>G (n.3874+27A>G) c.3949+27A>G (n.3949+27A>G) c.3811+27A>G (n.3811+27A>G) n.404+27A>G n.485+27A>G c.3907+27A>G (n.3907+27A>G) c.3871+27A>G (n.3871+27A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10348761G>A | CA2643183544 | KIF1B | c.4012+28G>A (n.4012+28G>A) c.3874+28G>A (n.3874+28G>A) c.3949+28G>A (n.3949+28G>A) c.3811+28G>A (n.3811+28G>A) n.404+28G>A n.485+28G>A c.3907+28G>A (n.3907+28G>A) c.3871+28G>A (n.3871+28G>A) | gnomAD v4 |
1 | g.10348761G>T | CA2643183545 | KIF1B | c.4012+28G>T (n.4012+28G>T) c.3874+28G>T (n.3874+28G>T) c.3949+28G>T (n.3949+28G>T) c.3811+28G>T (n.3811+28G>T) n.404+28G>T n.485+28G>T c.3907+28G>T (n.3907+28G>T) c.3871+28G>T (n.3871+28G>T) | gnomAD v4 |
1 | g.10348762A>C | CA2643183546 | KIF1B | c.4012+29A>C (n.4012+29A>C) c.3874+29A>C (n.3874+29A>C) c.3949+29A>C (n.3949+29A>C) c.3811+29A>C (n.3811+29A>C) n.404+29A>C n.485+29A>C c.3907+29A>C (n.3907+29A>C) c.3871+29A>C (n.3871+29A>C) | gnomAD v4 |
1 | g.10348762A>G | CA2643183547 | KIF1B | c.4012+29A>G (n.4012+29A>G) c.3874+29A>G (n.3874+29A>G) c.3949+29A>G (n.3949+29A>G) c.3811+29A>G (n.3811+29A>G) n.404+29A>G n.485+29A>G c.3907+29A>G (n.3907+29A>G) c.3871+29A>G (n.3871+29A>G) | gnomAD v4 |
1 | g.10348763A>C | CA2643183548 | KIF1B | c.4012+30A>C (n.4012+30A>C) c.3874+30A>C (n.3874+30A>C) c.3949+30A>C (n.3949+30A>C) c.3811+30A>C (n.3811+30A>C) n.404+30A>C n.485+30A>C c.3907+30A>C (n.3907+30A>C) c.3871+30A>C (n.3871+30A>C) | gnomAD v4 |
1 | g.10348763A>T | CA2574206609 | KIF1B | c.4012+30A>T (n.4012+30A>T) c.3874+30A>T (n.3874+30A>T) c.3949+30A>T (n.3949+30A>T) c.3811+30A>T (n.3811+30A>T) n.404+30A>T n.485+30A>T c.3907+30A>T (n.3907+30A>T) c.3871+30A>T (n.3871+30A>T) | |
1 | g.10348764C>A | CA2643183550 | KIF1B | c.4012+31C>A (n.4012+31C>A) c.3874+31C>A (n.3874+31C>A) c.3949+31C>A (n.3949+31C>A) c.3811+31C>A (n.3811+31C>A) n.404+31C>A n.485+31C>A c.3907+31C>A (n.3907+31C>A) c.3871+31C>A (n.3871+31C>A) | gnomAD v4 |
1 | g.10348765del | CA2643183549 | KIF1B | c.4012+32del (n.4012+32del) c.3874+32del (n.3874+32del) c.3949+32del (n.3949+32del) c.3811+32del (n.3811+32del) n.404+32del n.485+32del c.3907+32del (n.3907+32del) c.3871+32del (n.3871+32del) | gnomAD v4 |
1 | g.10348765C>A | CA2643183551 | KIF1B | c.4012+32C>A (n.4012+32C>A) c.3874+32C>A (n.3874+32C>A) c.3949+32C>A (n.3949+32C>A) c.3811+32C>A (n.3811+32C>A) n.404+32C>A n.485+32C>A c.3907+32C>A (n.3907+32C>A) c.3871+32C>A (n.3871+32C>A) | gnomAD v4 |
1 | g.10348766A= | CA1153147311 | KIF1B | c.4012+33A= (n.4012+33A=) c.3874+33A= (n.3874+33A=) c.3949+33A= (n.3949+33A=) c.3811+33A= (n.3811+33A=) n.404+33A= n.485+33A= c.3907+33A= (n.3907+33A=) c.3871+33A= (n.3871+33A=) | |
1 | g.10348766A>G | CA1153147312 | KIF1B | c.4012+33A>G (n.4012+33A>G) c.3874+33A>G (n.3874+33A>G) c.3949+33A>G (n.3949+33A>G) c.3811+33A>G (n.3811+33A>G) n.404+33A>G n.485+33A>G c.3907+33A>G (n.3907+33A>G) c.3871+33A>G (n.3871+33A>G) | dbSNP |
1 | g.10348767G>T | CA2643183552 | KIF1B | c.4012+34G>T (n.4012+34G>T) c.3874+34G>T (n.3874+34G>T) c.3949+34G>T (n.3949+34G>T) c.3811+34G>T (n.3811+34G>T) n.404+34G>T n.485+34G>T c.3907+34G>T (n.3907+34G>T) c.3871+34G>T (n.3871+34G>T) | gnomAD v4 |
1 | g.10348768G>A | CA581935 | KIF1B | c.4012+35G>A (n.4012+35G>A) c.3874+35G>A (n.3874+35G>A) c.3949+35G>A (n.3949+35G>A) c.3811+35G>A (n.3811+35G>A) n.404+35G>A n.485+35G>A c.3907+35G>A (n.3907+35G>A) c.3871+35G>A (n.3871+35G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10348768G>C | CA2643183553 | KIF1B | c.4012+35G>C (n.4012+35G>C) c.3874+35G>C (n.3874+35G>C) c.3949+35G>C (n.3949+35G>C) c.3811+35G>C (n.3811+35G>C) n.404+35G>C n.485+35G>C c.3907+35G>C (n.3907+35G>C) c.3871+35G>C (n.3871+35G>C) | gnomAD v4 |
1 | g.10348768G= | CA1144104847 | KIF1B | c.4012+35G= (n.4012+35G=) c.3874+35G= (n.3874+35G=) c.3949+35G= (n.3949+35G=) c.3811+35G= (n.3811+35G=) n.404+35G= n.485+35G= c.3907+35G= (n.3907+35G=) c.3871+35G= (n.3871+35G=) | |
1 | g.10348768_10348772delinsGACTT | CA1153147313 | KIF1B | c.4012+35_4012+39delinsGACTT (n.4012+35_4012+39delinsGACTT) c.3874+35_3874+39delinsGACTT (n.3874+35_3874+39delinsGACTT) c.3949+35_3949+39delinsGACTT (n.3949+35_3949+39delinsGACTT) c.3811+35_3811+39delinsGACTT (n.3811+35_3811+39delinsGACTT) n.404+35_404+39delinsGACTT n.485+35_485+39delinsGACTT c.3907+35_3907+39delinsGACTT (n.3907+35_3907+39delinsGACTT) c.3871+35_3871+39delinsGACTT (n.3871+35_3871+39delinsGACTT) | |
1 | g.10348768_10348769insGTTGC | CA1153147314 | KIF1B | c.4012+35_4012+36insGTTGC (n.4012+35_4012+36insGTTGC) c.3874+35_3874+36insGTTGC (n.3874+35_3874+36insGTTGC) c.3949+35_3949+36insGTTGC (n.3949+35_3949+36insGTTGC) c.3811+35_3811+36insGTTGC (n.3811+35_3811+36insGTTGC) n.404+35_404+36insGTTGC n.485+35_485+36insGTTGC c.3907+35_3907+36insGTTGC (n.3907+35_3907+36insGTTGC) c.3871+35_3871+36insGTTGC (n.3871+35_3871+36insGTTGC) | dbSNP |
1 | g.10348769A>G | CA2643183554 | KIF1B | c.4012+36A>G (n.4012+36A>G) c.3874+36A>G (n.3874+36A>G) c.3949+36A>G (n.3949+36A>G) c.3811+36A>G (n.3811+36A>G) n.404+36A>G n.485+36A>G c.3907+36A>G (n.3907+36A>G) c.3871+36A>G (n.3871+36A>G) | gnomAD v4 |
1 | g.10348771_10348774del | CA998514920 | KIF1B | c.4012+38_4012+41del (n.4012+38_4012+41del) c.3874+38_3874+41del (n.3874+38_3874+41del) c.3949+38_3949+41del (n.3949+38_3949+41del) c.3811+38_3811+41del (n.3811+38_3811+41del) n.404+38_404+41del n.485+38_485+41del c.3907+38_3907+41del (n.3907+38_3907+41del) c.3871+38_3871+41del (n.3871+38_3871+41del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.10348770C>A | CA1153147316 | KIF1B | c.4012+37C>A (n.4012+37C>A) c.3874+37C>A (n.3874+37C>A) c.3949+37C>A (n.3949+37C>A) c.3811+37C>A (n.3811+37C>A) n.404+37C>A n.485+37C>A c.3907+37C>A (n.3907+37C>A) c.3871+37C>A (n.3871+37C>A) | dbSNP gnomAD v4 |
1 | g.10348770C= | CA1153147315 | KIF1B | c.4012+37C= (n.4012+37C=) c.3874+37C= (n.3874+37C=) c.3949+37C= (n.3949+37C=) c.3811+37C= (n.3811+37C=) n.404+37C= n.485+37C= c.3907+37C= (n.3907+37C=) c.3871+37C= (n.3871+37C=) | |
1 | g.10348771T>C | CA2643183556 | KIF1B | c.4012+38T>C (n.4012+38T>C) c.3874+38T>C (n.3874+38T>C) c.3949+38T>C (n.3949+38T>C) c.3811+38T>C (n.3811+38T>C) n.404+38T>C n.485+38T>C c.3907+38T>C (n.3907+38T>C) c.3871+38T>C (n.3871+38T>C) | gnomAD v4 |
1 | g.10348772del | CA2643183555 | KIF1B | c.4012+39del (n.4012+39del) c.3874+39del (n.3874+39del) c.3949+39del (n.3949+39del) c.3811+39del (n.3811+39del) n.404+39del n.485+39del c.3907+39del (n.3907+39del) c.3871+39del (n.3871+39del) | gnomAD v4 |
1 | g.10348773A>T | CA2643183558 | KIF1B | c.4012+40A>T (n.4012+40A>T) c.3874+40A>T (n.3874+40A>T) c.3949+40A>T (n.3949+40A>T) c.3811+40A>T (n.3811+40A>T) n.404+40A>T n.485+40A>T c.3907+40A>T (n.3907+40A>T) c.3871+40A>T (n.3871+40A>T) | gnomAD v4 |
1 | g.10348773dup | CA2643183557 | KIF1B | c.4012+40dup (n.4012+40dup) c.3874+40dup (n.3874+40dup) c.3949+40dup (n.3949+40dup) c.3811+40dup (n.3811+40dup) n.404+40dup n.485+40dup c.3907+40dup (n.3907+40dup) c.3871+40dup (n.3871+40dup) | gnomAD v4 |
1 | g.10348773_10348817delinsACAGAGATTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACC | CA1153147317 | KIF1B | c.4012+40_4012+84delinsACAGAGATTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACC (n.4012+40_4012+84delinsACAGAGATTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACC) c.3874+40_3874+84delinsACAGAGATTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACC (n.3874+40_3874+84delinsACAGAGATTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACC) c.3949+40_3949+84delinsACAGAGATTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACC (n.3949+40_3949+84delinsACAGAGATTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACC) c.3811+40_3811+84delinsACAGAGATTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACC (n.3811+40_3811+84delinsACAGAGATTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACC) n.404+40_404+84delinsACAGAGATTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACC n.485+40_485+84delinsACAGAGATTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACC c.3907+40_3907+84delinsACAGAGATTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACC (n.3907+40_3907+84delinsACAGAGATTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACC) c.3871+40_3871+84delinsACAGAGATTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACC (n.3871+40_3871+84delinsACAGAGATTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACC) |