UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.10258611C>A | CA338325403 | KIF1B | c.302C>A (p.Ala101Asp) | |
| 1 | g.10258611C>G | CA338325404 | KIF1B | c.302C>G (p.Ala101Gly) | |
| 1 | g.10258611C>T | CA338325407 | KIF1B | c.302C>T (p.Ala101Val) | |
| 1 | g.10258612T>A | CA415879263 | KIF1B | c.303T>A (p.Ala101=) | |
| 1 | g.10258612T>C | CA415879264 | KIF1B | c.303T>C (p.Ala101=) | |
| 1 | g.10258612T>G | CA415879265 | KIF1B | c.303T>G (p.Ala101=) | gnomAD v4 |
| 1 | g.10258613G>A | CA338325412 | KIF1B | c.304G>A (p.Gly102Arg) | |
| 1 | g.10258613G>C | CA338325415 | KIF1B | c.304G>C (p.Gly102Arg) | |
| 1 | g.10258613G>T | CA338325417 | KIF1B | c.304G>T (p.Gly102Ter) | |
| 1 | g.10258614G>A | CA338325420 | KIF1B | c.305G>A (p.Gly102Glu) | |
| 1 | g.10258614G>C | CA338325421 | KIF1B | c.305G>C (p.Gly102Ala) | |
| 1 | g.10258614G>T | CA338325424 | KIF1B | c.305G>T (p.Gly102Val) | |
| 1 | g.10258615A>C | CA415879266 | KIF1B | c.306A>C (p.Gly102=) | |
| 1 | g.10258615A>G | CA415879268 | KIF1B | c.306A>G (p.Gly102=) | gnomAD v4 COSMIC COSMIC |
| 1 | g.10258615A>T | CA415879267 | KIF1B | c.306A>T (p.Gly102=) | |
| 1 | g.10258616A>C | CA338325431 | KIF1B | c.307A>C (p.Lys103Gln) | |
| 1 | g.10258616A>G | CA338325426 | KIF1B | c.307A>G (p.Lys103Glu) | |
| 1 | g.10258616A>T | CA338325428 | KIF1B | c.307A>T (p.Lys103Ter) | |
| 1 | g.10258617A>C | CA338325434 | KIF1B | c.308A>C (p.Lys103Thr) | |
| 1 | g.10258617A>G | CA338325436 | KIF1B | c.308A>G (p.Lys103Arg) | |
| 1 | g.10258617A>T | CA338325439 | KIF1B | c.308A>T (p.Lys103Ile) | |
| 1 | g.10258618A>C | CA338325442 | KIF1B | c.309A>C (p.Lys103Asn) | |
| 1 | g.10258618A>G | CA415879269 | KIF1B | c.309A>G (p.Lys103=) | ClinVar |
| 1 | g.10258618A>T | CA338325445 | KIF1B | c.309A>T (p.Lys103Asn) | |
| 1 | g.10258619T>A | CA338325448 | KIF1B | c.310T>A (p.Ser104Thr) | |
| 1 | g.10258619T>C | CA338325449 | KIF1B | c.310T>C (p.Ser104Pro) | |
| 1 | g.10258619T>G | CA338325451 | KIF1B | c.310T>G (p.Ser104Ala) | |
| 1 | g.10258620_10258622del | CA2643175141 | KIF1B | c.311_313del (p.Ser104del) | gnomAD v4 |
| 1 | g.10258620C>A | CA338325455 | KIF1B | c.311C>A (p.Ser104Tyr) | |
| 1 | g.10258620C>G | CA338325457 | KIF1B | c.311C>G (p.Ser104Cys) | |
| 1 | g.10258620C>T | CA338325459 | KIF1B | c.311C>T (p.Ser104Phe) | |
| 1 | g.10258621T>A | CA415879270 | KIF1B | c.312T>A (p.Ser104=) | |
| 1 | g.10258621T>C | CA415879272 | KIF1B | c.312T>C (p.Ser104=) | |
| 1 | g.10258621T>G | CA415879271 | KIF1B | c.312T>G (p.Ser104=) | |
| 1 | g.10258622T>A | CA338325472 | KIF1B | c.313T>A (p.Tyr105Asn) | |
| 1 | g.10258622T>C | CA338325469 | KIF1B | c.313T>C (p.Tyr105His) | |
| 1 | g.10258622T>G | CA338325462 | KIF1B | c.313T>G (p.Tyr105Asp) | |
| 1 | g.10258623A>C | CA338325476 | KIF1B | c.314A>C (p.Tyr105Ser) | |
| 1 | g.10258623A>G | CA338325478 | KIF1B | c.314A>G (p.Tyr105Cys) | |
| 1 | g.10258623A>T | CA338325481 | KIF1B | c.314A>T (p.Tyr105Phe) | |
| 1 | g.10258624T>A | CA338325484 | KIF1B | c.315T>A (p.Tyr105Ter) | |
| 1 | g.10258624T>C | CA580664 | KIF1B | c.315T>C (p.Tyr105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258624T>G | CA338325488 | KIF1B | c.315T>G (p.Tyr105Ter) | |
| 1 | g.10258624T= | CA1142019276 | KIF1B | c.315T= (p.Tyr105=) | |
| 1 | g.10258625A>C | CA338325491 | KIF1B | c.316A>C (p.Thr106Pro) | |
| 1 | g.10258625A>G | CA338325494 | KIF1B | c.316A>G (p.Thr106Ala) | |
| 1 | g.10258625A>T | CA338325495 | KIF1B | c.316A>T (p.Thr106Ser) | |
| 1 | g.10258626C>A | CA338325497 | KIF1B | c.317C>A (p.Thr106Lys) | |
| 1 | g.10258626C>G | CA338325500 | KIF1B | c.317C>G (p.Thr106Arg) | |
| 1 | g.10258626C>T | CA338325502 | KIF1B | c.317C>T (p.Thr106Ile) | |
| 1 | g.10258627A= | CA1153193456 | KIF1B | c.318A= (p.Thr106=) | |
| 1 | g.10258627A>C | CA415879273 | KIF1B | c.318A>C (p.Thr106=) | |
| 1 | g.10258627A>G | CA415879274 | KIF1B | c.318A>G (p.Thr106=) | dbSNP gnomAD v2 |
| 1 | g.10258627A>T | CA415879275 | KIF1B | c.318A>T (p.Thr106=) | |
| 1 | g.10258628A>C | CA338325510 | KIF1B | c.319A>C (p.Met107Leu) | |
| 1 | g.10258628A>G | CA338325508 | KIF1B | c.319A>G (p.Met107Val) | |
| 1 | g.10258628A>T | CA338325505 | KIF1B | c.319A>T (p.Met107Leu) | |
| 1 | g.10258629T>A | CA338325512 | KIF1B | c.320T>A (p.Met107Lys) | |
| 1 | g.10258629T>C | CA338325514 | KIF1B | c.320T>C (p.Met107Thr) | gnomAD v4 |
| 1 | g.10258629T>G | CA338325517 | KIF1B | c.320T>G (p.Met107Arg) | |
| 1 | g.10258630G>A | CA338325520 | KIF1B | c.321G>A (p.Met107Ile) | |
| 1 | g.10258630G>C | CA338325522 | KIF1B | c.321G>C (p.Met107Ile) | |
| 1 | g.10258630G>T | CA338325524 | KIF1B | c.321G>T (p.Met107Ile) | |
| 1 | g.10258631A>C | CA338325527 | KIF1B | c.322A>C (p.Met108Leu) | |
| 1 | g.10258631A>G | CA338325530 | KIF1B | c.322A>G (p.Met108Val) | |
| 1 | g.10258631A>T | CA338325531 | KIF1B | c.322A>T (p.Met108Leu) | |
| 1 | g.10258632T>A | CA338325535 | KIF1B | c.323T>A (p.Met108Lys) | |
| 1 | g.10258632T>C | CA338325538 | KIF1B | c.323T>C (p.Met108Thr) | ClinVar gnomAD v4 |
| 1 | g.10258632T>G | CA338325541 | KIF1B | c.323T>G (p.Met108Arg) | |
| 1 | g.10258633G>A | CA338325543 | KIF1B | c.324G>A (p.Met108Ile) | |
| 1 | g.10258633G>C | CA338325548 | KIF1B | c.324G>C (p.Met108Ile) | |
| 1 | g.10258633G>T | CA338325545 | KIF1B | c.324G>T (p.Met108Ile) | |
| 1 | g.10258634G>A | CA338325551 | KIF1B | c.325G>A (p.Gly109Ser) | |
| 1 | g.10258634G>C | CA338325555 | KIF1B | c.325G>C (p.Gly109Arg) | |
| 1 | g.10258634G>T | CA338325553 | KIF1B | c.325G>T (p.Gly109Cys) | |
| 1 | g.10258635G>A | CA338325560 | KIF1B | c.326G>A (p.Gly109Asp) | |
| 1 | g.10258635G>C | CA338325565 | KIF1B | c.326G>C (p.Gly109Ala) | |
| 1 | g.10258635G>T | CA338325562 | KIF1B | c.326G>T (p.Gly109Val) | COSMIC COSMIC |
| 1 | g.10258636T>A | CA415879276 | KIF1B | c.327T>A (p.Gly109=) | |
| 1 | g.10258636T>C | CA415879277 | KIF1B | c.327T>C (p.Gly109=) | |
| 1 | g.10258636T>G | CA415879278 | KIF1B | c.327T>G (p.Gly109=) | |
| 1 | g.10258637A>C | CA338325568 | KIF1B | c.328A>C (p.Lys110Gln) | |
| 1 | g.10258637A>G | CA338325574 | KIF1B | c.328A>G (p.Lys110Glu) | |
| 1 | g.10258637A>T | CA338325570 | KIF1B | c.328A>T (p.Lys110Ter) | |
| 1 | g.10258638A>C | CA338325578 | KIF1B | c.329A>C (p.Lys110Thr) | |
| 1 | g.10258638A>G | CA338325582 | KIF1B | c.329A>G (p.Lys110Arg) | |
| 1 | g.10258638A>T | CA338325580 | KIF1B | c.329A>T (p.Lys110Ile) | |
| 1 | g.10258639A>C | CA338325585 | KIF1B | c.330A>C (p.Lys110Asn) | |
| 1 | g.10258639A>G | CA415879279 | KIF1B | c.330A>G (p.Lys110=) | |
| 1 | g.10258639A>T | CA338325587 | KIF1B | c.330A>T (p.Lys110Asn) | |
| 1 | g.10258640C>A | CA338325589 | KIF1B | c.331C>A (p.Gln111Lys) | |
| 1 | g.10258640C>G | CA338325596 | KIF1B | c.331C>G (p.Gln111Glu) | |
| 1 | g.10258640C>T | CA338325593 | KIF1B | c.331C>T (p.Gln111Ter) | |
| 1 | g.10258640_10258643delinsCAAG | CA1153193459 | KIF1B | c.331_334delinsCAAG (p.Gln111=) | |
| 1 | g.10258641A>C | CA338325600 | KIF1B | c.332A>C (p.Gln111Pro) | |
| 1 | g.10258641A>G | CA338325604 | KIF1B | c.332A>G (p.Gln111Arg) | gnomAD v4 |
| 1 | g.10258641A>T | CA338325608 | KIF1B | c.332A>T (p.Gln111Leu) | |
| 1 | g.10258641_10258648delinsAAGAAGAA | CA1149036684 | KIF1B | c.332_339delinsAAGAAGAA (p.Gln111=) | |
| 1 | g.10258646_10258648del | CA580665 | KIF1B | c.337_339del (p.Glu113del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258642A>C | CA338325610 | KIF1B | c.333A>C (p.Gln111His) | |
| 1 | g.10258642A>G | CA415879280 | KIF1B | c.333A>G (p.Gln111=) | ClinVar dbSNP |
| 1 | g.10258642A>T | CA338325613 | KIF1B | c.333A>T (p.Gln111His) | |
| 1 | g.10258643G>A | CA338325618 | KIF1B | c.334G>A (p.Glu112Lys) | |
| 1 | g.10258643G>C | CA338325620 | KIF1B | c.334G>C (p.Glu112Gln) | gnomAD v4 |
| 1 | g.10258643G>T | CA338325622 | KIF1B | c.334G>T (p.Glu112Ter) | |
| 1 | g.10258644A>C | CA338325625 | KIF1B | c.335A>C (p.Glu112Ala) | |
| 1 | g.10258644A>G | CA338325632 | KIF1B | c.335A>G (p.Glu112Gly) | |
| 1 | g.10258644A>T | CA338325637 | KIF1B | c.335A>T (p.Glu112Val) | |
| 1 | g.10258645A>C | CA338325639 | KIF1B | c.336A>C (p.Glu112Asp) | |
| 1 | g.10258645A>G | CA415879281 | KIF1B | c.336A>G (p.Glu112=) | |
| 1 | g.10258645A>T | CA338325642 | KIF1B | c.336A>T (p.Glu112Asp) | |
| 1 | g.10258646G>A | CA17832864 | KIF1B | c.337G>A (p.Glu113Lys) | dbSNP gnomAD v4 |
| 1 | g.10258646G>C | CA338325645 | KIF1B | c.337G>C (p.Glu113Gln) | |
| 1 | g.10258646G= | CA1148424777 | KIF1B | c.337G= (p.Glu113=) | |
| 1 | g.10258646G>T | CA338325647 | KIF1B | c.337G>T (p.Glu113Ter) | |
| 1 | g.10258647A>C | CA338325649 | KIF1B | c.338A>C (p.Glu113Ala) | COSMIC COSMIC |
| 1 | g.10258647A>G | CA338325652 | KIF1B | c.338A>G (p.Glu113Gly) | |
| 1 | g.10258647A>T | CA338325655 | KIF1B | c.338A>T (p.Glu113Val) | |
| 1 | g.10258648A>C | CA338325658 | KIF1B | c.339A>C (p.Glu113Asp) | gnomAD v4 COSMIC COSMIC |
| 1 | g.10258648A>G | CA415879282 | KIF1B | c.339A>G (p.Glu113=) | |
| 1 | g.10258648A>T | CA338325664 | KIF1B | c.339A>T (p.Glu113Asp) | |
| 1 | g.10258649A>C | CA338325668 | KIF1B | c.340A>C (p.Ser114Arg) | |
| 1 | g.10258649A>G | CA338325671 | KIF1B | c.340A>G (p.Ser114Gly) | |
| 1 | g.10258649A>T | CA338325674 | KIF1B | c.340A>T (p.Ser114Cys) | |
| 1 | g.10258650G>A | CA338325681 | KIF1B | c.341G>A (p.Ser114Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10258650G>C | CA338325682 | KIF1B | c.341G>C (p.Ser114Thr) | |
| 1 | g.10258650G= | CA1153193464 | KIF1B | c.341G= (p.Ser114=) | |
| 1 | g.10258650G>T | CA338325684 | KIF1B | c.341G>T (p.Ser114Ile) | |
| 1 | g.10258651C>A | CA338325686 | KIF1B | c.342C>A (p.Ser114Arg) | |
| 1 | g.10258651C>G | CA338325685 | KIF1B | c.342C>G (p.Ser114Arg) | |
| 1 | g.10258651C>T | CA415879283 | KIF1B | c.342C>T (p.Ser114=) | ClinVar |
| 1 | g.10258652C>A | CA338325689 | KIF1B | c.343C>A (p.Gln115Lys) | |
| 1 | g.10258652C>G | CA338325691 | KIF1B | c.343C>G (p.Gln115Glu) | |
| 1 | g.10258652C>T | CA338325694 | KIF1B | c.343C>T (p.Gln115Ter) | |
| 1 | g.10258653A>C | CA338325697 | KIF1B | c.344A>C (p.Gln115Pro) | |
| 1 | g.10258653A>G | CA338325699 | KIF1B | c.344A>G (p.Gln115Arg) | |
| 1 | g.10258653A>T | CA338325703 | KIF1B | c.344A>T (p.Gln115Leu) | |
| 1 | g.10258654G>A | CA415879284 | KIF1B | c.345G>A (p.Gln115=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.10258654G>C | CA338325708 | KIF1B | c.345G>C (p.Gln115His) | |
| 1 | g.10258654G= | CA1153193465 | KIF1B | c.345G= (p.Gln115=) | |
| 1 | g.10258654G>T | CA338325706 | KIF1B | c.345G>T (p.Gln115His) | |
| 1 | g.10258655G>A | CA338325711 | KIF1B | c.346G>A (p.Ala116Thr) | |
| 1 | g.10258655G>C | CA338325714 | KIF1B | c.346G>C (p.Ala116Pro) | |
| 1 | g.10258655G>T | CA338325716 | KIF1B | c.346G>T (p.Ala116Ser) | |
| 1 | g.10258656C>A | CA338325717 | KIF1B | c.347C>A (p.Ala116Asp) | |
| 1 | g.10258656C>G | CA338325721 | KIF1B | c.347C>G (p.Ala116Gly) | |
| 1 | g.10258656C>T | CA338325724 | KIF1B | c.347C>T (p.Ala116Val) | |
| 1 | g.10258657T>A | CA415879285 | KIF1B | c.348T>A (p.Ala116=) | |
| 1 | g.10258657T>C | CA415879287 | KIF1B | c.348T>C (p.Ala116=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.10258657T>G | CA415879286 | KIF1B | c.348T>G (p.Ala116=) | ClinVar dbSNP |
| 1 | g.10258657T= | CA1153193468 | KIF1B | c.348T= (p.Ala116=) | |
| 1 | g.10258658G>A | CA338325727 | KIF1B | c.349G>A (p.Gly117Ser) | |
| 1 | g.10258658G>C | CA338325733 | KIF1B | c.349G>C (p.Gly117Arg) | |
| 1 | g.10258658G>T | CA338325730 | KIF1B | c.349G>T (p.Gly117Cys) | |
| 1 | g.10258659G>A | CA338325734 | KIF1B | c.350G>A (p.Gly117Asp) | COSMIC COSMIC |
| 1 | g.10258659G>C | CA338325735 | KIF1B | c.350G>C (p.Gly117Ala) | |
| 1 | g.10258659G>T | CA338325736 | KIF1B | c.350G>T (p.Gly117Val) | |
| 1 | g.10258660C>A | CA415879288 | KIF1B | c.351C>A (p.Gly117=) | ClinVar |
| 1 | g.10258660C>G | CA415879289 | KIF1B | c.351C>G (p.Gly117=) | |
| 1 | g.10258660C>T | CA415879290 | KIF1B | c.351C>T (p.Gly117=) | ClinVar |
| 1 | g.10258661A>C | CA338325737 | KIF1B | c.352A>C (p.Ile118Leu) | |
| 1 | g.10258661A>G | CA338325739 | KIF1B | c.352A>G (p.Ile118Val) | ClinVar |
| 1 | g.10258661A>T | CA338325741 | KIF1B | c.352A>T (p.Ile118Phe) | |
| 1 | g.10258662T>A | CA338325744 | KIF1B | c.353T>A (p.Ile118Asn) | |
| 1 | g.10258662T>C | CA338325746 | KIF1B | c.353T>C (p.Ile118Thr) | COSMIC COSMIC |
| 1 | g.10258662T>G | CA338325749 | KIF1B | c.353T>G (p.Ile118Ser) | |
| 1 | g.10258663C>A | CA415879291 | KIF1B | c.354C>A (p.Ile118=) | |
| 1 | g.10258663C= | CA1153193469 | KIF1B | c.354C= (p.Ile118=) | |
| 1 | g.10258663C>G | CA338325750 | KIF1B | c.354C>G (p.Ile118Met) | |
| 1 | g.10258663C>T | CA415879292 | KIF1B | c.354C>T (p.Ile118=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10258664A>C | CA338325759 | KIF1B | c.355A>C (p.Ile119Leu) | |
| 1 | g.10258664A>G | CA338325755 | KIF1B | c.355A>G (p.Ile119Val) | gnomAD v4 |
| 1 | g.10258664A>T | CA338325753 | KIF1B | c.355A>T (p.Ile119Phe) | |
| 1 | g.10258665T>A | CA338325762 | KIF1B | c.356T>A (p.Ile119Asn) | |
| 1 | g.10258665T>C | CA338325767 | KIF1B | c.356T>C (p.Ile119Thr) | ClinVar dbSNP gnomAD v4 |
| 1 | g.10258665T>G | CA338325764 | KIF1B | c.356T>G (p.Ile119Ser) | |
| 1 | g.10258665T= | CA1153193473 | KIF1B | c.356T= (p.Ile119=) | |
| 1 | g.10258666T>A | CA415879293 | KIF1B | c.357T>A (p.Ile119=) | |
| 1 | g.10258666T>C | CA580666 | KIF1B | c.357T>C (p.Ile119=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258666T>G | CA338325769 | KIF1B | c.357T>G (p.Ile119Met) | gnomAD v4 |
| 1 | g.10258666T= | CA1153193474 | KIF1B | c.357T= (p.Ile119=) | |
| 1 | g.10258667C>A | CA338325773 | KIF1B | c.358C>A (p.Pro120Thr) | |
| 1 | g.10258667C>G | CA338325775 | KIF1B | c.358C>G (p.Pro120Ala) | |
| 1 | g.10258667C>T | CA338325779 | KIF1B | c.358C>T (p.Pro120Ser) | |
| 1 | g.10258668C>A | CA338325784 | KIF1B | c.359C>A (p.Pro120Gln) | |
| 1 | g.10258668C>G | CA338325786 | KIF1B | c.359C>G (p.Pro120Arg) | |
| 1 | g.10258668C>T | CA338325788 | KIF1B | c.359C>T (p.Pro120Leu) | |
| 1 | g.10258669A>C | CA415879294 | KIF1B | c.360A>C (p.Pro120=) | |
| 1 | g.10258669A>G | CA415879295 | KIF1B | c.360A>G (p.Pro120=) | |
| 1 | g.10258669A>T | CA415879296 | KIF1B | c.360A>T (p.Pro120=) | |
| 1 | g.10258670C>A | CA338325792 | KIF1B | c.361C>A (p.Gln121Lys) | |
| 1 | g.10258670C>G | CA338325797 | KIF1B | c.361C>G (p.Gln121Glu) | |
| 1 | g.10258670C>T | CA338325800 | KIF1B | c.361C>T (p.Gln121Ter) | |
| 1 | g.10258671A>C | CA338325811 | KIF1B | c.362A>C (p.Gln121Pro) | |
| 1 | g.10258671A>G | CA338325809 | KIF1B | c.362A>G (p.Gln121Arg) | |
| 1 | g.10258671A>T | CA338325803 | KIF1B | c.362A>T (p.Gln121Leu) | |
| 1 | g.10258672G>A | CA415879297 | KIF1B | c.363G>A (p.Gln121=) | |
| 1 | g.10258672G>C | CA338325818 | KIF1B | c.363G>C (p.Gln121His) | |
| 1 | g.10258672G>T | CA338325819 | KIF1B | c.363G>T (p.Gln121His) | |
| 1 | g.10258673G>A | CA338325820 | KIF1B | c.363+1G>A (n.363+1G>A) | |
| 1 | g.10258673G>C | CA338325823 | KIF1B | c.363+1G>C (n.363+1G>C) | |
| 1 | g.10258673G>T | CA338325826 | KIF1B | c.363+1G>T (n.363+1G>T) | |
| 1 | g.10258674T>A | CA338325835 | KIF1B | c.363+2T>A (n.363+2T>A) | gnomAD v4 |
| 1 | g.10258674T>C | CA338325836 | KIF1B | c.363+2T>C (n.363+2T>C) | |
| 1 | g.10258674T>G | CA338325838 | KIF1B | c.363+2T>G (n.363+2T>G) | |
| 1 | g.10258675G>A | CA2643175142 | KIF1B | c.363+3G>A (n.363+3G>A) | gnomAD v4 |
| 1 | g.10258676A>C | CA2580060779 | KIF1B | c.363+4A>C (n.363+4A>C) | ClinVar |
| 1 | g.10258680del | CA2643175143 | KIF1B | c.363+8del (n.363+8del) | gnomAD v4 |
| 1 | g.10258676_10258681delinsAAAAAC | CA1153193476 | KIF1B | c.363+4_363+9delinsAAAAAC (n.363+4_363+9delinsAAAAAC) | |
| 1 | g.10258677A= | CA1153193479 | KIF1B | c.363+5A= (n.363+5A=) | |
| 1 | g.10258677A>T | CA1153193480 | KIF1B | c.363+5A>T (n.363+5A>T) | dbSNP gnomAD v4 |
| 1 | g.10258691_10258695dup | CA2643175144 | KIF1B | c.363+19_363+23dup (n.363+19_363+23dup) | gnomAD v4 |
| 1 | g.10258691_10258695del | CA580667 | KIF1B | c.363+19_363+23del (n.363+19_363+23del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258678A= | CA1141378662 | KIF1B | c.363+6A= (n.363+6A=) | |
| 1 | g.10258678A>C | CA580668 | KIF1B | c.363+6A>C (n.363+6A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258678A>G | CA2581640150 | KIF1B | c.363+6A>G (n.363+6A>G) | gnomAD v4 |
| 1 | g.10258678A>T | CA2581640151 | KIF1B | c.363+6A>T (n.363+6A>T) | |
| 1 | g.10258681_10258684del | CA2643175145 | KIF1B | c.363+9_363+12del (n.363+9_363+12del) | gnomAD v4 |
| 1 | g.10258680A>C | CA2742435485 | KIF1B | c.363+8A>C (n.363+8A>C) | |
| 1 | g.10258680_10258681delinsAC | CA1153193487 | KIF1B | c.363+8_363+9delinsAC (n.363+8_363+9delinsAC) | |
| 1 | g.10258681del | CA521452495 | KIF1B | c.363+9del (n.363+9del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258681C>A | CA915941120 | KIF1B | c.363+9C>A (n.363+9C>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.10258681C= | CA1153193491 | KIF1B | c.363+9C= (n.363+9C=) | |
| 1 | g.10258681C>G | CA2643175146 | KIF1B | c.363+9C>G (n.363+9C>G) | gnomAD v4 |
| 1 | g.10258682A= | CA1153193497 | KIF1B | c.363+10A= (n.363+10A=) | |
| 1 | g.10258682A>C | CA580669 | KIF1B | c.363+10A>C (n.363+10A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258684A= | CA1153193501 | KIF1B | c.363+12A= (n.363+12A=) | |
| 1 | g.10258684A>G | CA1153193502 | KIF1B | c.363+12A>G (n.363+12A>G) | dbSNP |
| 1 | g.10258684A>T | CA2643175147 | KIF1B | c.363+12A>T (n.363+12A>T) | gnomAD v4 |
| 1 | g.10258686C>A | CA2643175148 | KIF1B | c.363+14C>A (n.363+14C>A) | gnomAD v4 |
| 1 | g.10258686C>G | CA2697552155 | KIF1B | c.363+14C>G (n.363+14C>G) | ClinVar |
| 1 | g.10258686_10258687insCC | CA2742435486 | KIF1B | c.363+14_363+15insCC (n.363+14_363+15insCC) | |
| 1 | g.10258686_10258688delinsCAA | CA1153193503 | KIF1B | c.363+14_363+16delinsCAA (n.363+14_363+16delinsCAA) | |
| 1 | g.10258687A>C | CA2742435487 | KIF1B | c.363+15A>C (n.363+15A>C) | |
| 1 | g.10258689_10258690dup | CA2505061572 | KIF1B | c.363+17_363+18dup (n.363+17_363+18dup) | ClinVar |
| 1 | g.10258689_10258690del | CA17832874 | KIF1B | c.363+17_363+18del (n.363+17_363+18del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.10258688_10258689insCCCAAACACACCC | CA2742435488 | KIF1B | c.363+16_363+17insCCCAAACACACCC (n.363+16_363+17insCCCAAACACACCC) | |
| 1 | g.10258689A= | CA1153193505 | KIF1B | c.363+17A= (n.363+17A=) | |
| 1 | g.10258689A>T | CA521452473 | KIF1B | c.363+17A>T (n.363+17A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258689_10258690insCACACCCAAC | CA2742435489 | KIF1B | c.363+17_363+18insCACACCCAAC (n.363+17_363+18insCACACCCAAC) | |
| 1 | g.10258691C>A | CA521452474 | KIF1B | c.363+19C>A (n.363+19C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10258691C= | CA1153193507 | KIF1B | c.363+19C= (n.363+19C=) | |
| 1 | g.10258691C>T | CA2643175149 | KIF1B | c.363+19C>T (n.363+19C>T) | gnomAD v4 |
| 1 | g.10258692_10258693insCACCCAACAC | CA2742435490 | KIF1B | c.363+20_363+21insCACCCAACAC (n.363+20_363+21insCACCCAACAC) | |
| 1 | g.10258693A>C | CA2742435491 | KIF1B | c.363+21A>C (n.363+21A>C) | |
| 1 | g.10258694A= | CA1153193508 | KIF1B | c.363+22A= (n.363+22A=) | |
| 1 | g.10258694A>C | CA580670 | KIF1B | c.363+22A>C (n.363+22A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258695A>C | CA2574205537 | KIF1B | c.363+23A>C (n.363+23A>C) | gnomAD v4 |
| 1 | g.10258696A= | CA1153193511 | KIF1B | c.363+24A= (n.363+24A=) | |
| 1 | g.10258696A>C | CA1153193510 | KIF1B | c.363+24A>C (n.363+24A>C) | dbSNP gnomAD v4 |
| 1 | g.10258696_10258699delinsATCT | CA1153193509 | KIF1B | c.363+24_363+27delinsATCT (n.363+24_363+27delinsATCT) | |
| 1 | g.10258700_10258702del | CA521452475 | KIF1B | c.363+28_363+30del (n.363+28_363+30del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258698C>A | CA1153193515 | KIF1B | c.363+26C>A (n.363+26C>A) | dbSNP gnomAD v4 |
| 1 | g.10258698C= | CA1153193513 | KIF1B | c.363+26C= (n.363+26C=) | |
| 1 | g.10258698C>T | CA580671 | KIF1B | c.363+26C>T (n.363+26C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10258700T>C | CA580672 | KIF1B | c.363+28T>C (n.363+28T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10258700T= | CA1153193517 | KIF1B | c.363+28T= (n.363+28T=) | |
| 1 | g.10258701C= | CA1153193520 | KIF1B | c.363+29C= (n.363+29C=) | |
| 1 | g.10258701C>T | CA580673 | KIF1B | c.363+29C>T (n.363+29C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258703C>A | CA2643175150 | KIF1B | c.363+31C>A (n.363+31C>A) | gnomAD v4 |
| 1 | g.10258703C= | CA1153193522 | KIF1B | c.363+31C= (n.363+31C=) | |
| 1 | g.10258703C>G | CA521452476 | KIF1B | c.363+31C>G (n.363+31C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258703C>T | CA521452477 | KIF1B | c.363+31C>T (n.363+31C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10258704T>G | CA521452478 | KIF1B | c.363+32T>G (n.363+32T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10258704T= | CA1153193524 | KIF1B | c.363+32T= (n.363+32T=) | |
| 1 | g.10258706C= | CA1143815319 | KIF1B | c.363+34C= (n.363+34C=) | |
| 1 | g.10258706C>G | CA580674 | KIF1B | c.363+34C>G (n.363+34C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258706C>T | CA17832875 | KIF1B | c.363+34C>T (n.363+34C>T) | dbSNP gnomAD v4 |
| 1 | g.10258707A>G | CA2560860946 | KIF1B | c.363+35A>G (n.363+35A>G) | gnomAD v4 |
| 1 | g.10258709T>C | CA580675 | KIF1B | c.363+37T>C (n.363+37T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258709T= | CA1153193531 | KIF1B | c.363+37T= (n.363+37T=) |