| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.10337418T>A | CA338340415 | KIF1B | c.3169T>A (p.Phe1057Ile) c.3232T>A (p.Phe1078Ile) c.3307T>A (p.Phe1103Ile) c.3265T>A (p.Phe1089Ile) c.3229T>A (p.Phe1077Ile) | |
| 1 | g.10337418T>C | CA338340416 | KIF1B | c.3169T>C (p.Phe1057Leu) c.3232T>C (p.Phe1078Leu) c.3307T>C (p.Phe1103Leu) c.3265T>C (p.Phe1089Leu) c.3229T>C (p.Phe1077Leu) | |
| 1 | g.10337418T>G | CA338340417 | KIF1B | c.3169T>G (p.Phe1057Val) c.3232T>G (p.Phe1078Val) c.3307T>G (p.Phe1103Val) c.3265T>G (p.Phe1089Val) c.3229T>G (p.Phe1077Val) | dbSNP |
| 1 | g.10337418T= | CA1153180508 | KIF1B | c.3169T= (p.Phe1057=) c.3232T= (p.Phe1078=) c.3307T= (p.Phe1103=) c.3265T= (p.Phe1089=) c.3229T= (p.Phe1077=) | |
| 1 | g.10337419T>A | CA338340422 | KIF1B | c.3170T>A (p.Phe1057Tyr) c.3233T>A (p.Phe1078Tyr) c.3308T>A (p.Phe1103Tyr) c.3266T>A (p.Phe1089Tyr) c.3230T>A (p.Phe1077Tyr) | |
| 1 | g.10337419T>C | CA338340421 | KIF1B | c.3170T>C (p.Phe1057Ser) c.3233T>C (p.Phe1078Ser) c.3308T>C (p.Phe1103Ser) c.3266T>C (p.Phe1089Ser) c.3230T>C (p.Phe1077Ser) | |
| 1 | g.10337419T>G | CA338340419 | KIF1B | c.3170T>G (p.Phe1057Cys) c.3233T>G (p.Phe1078Cys) c.3308T>G (p.Phe1103Cys) c.3266T>G (p.Phe1089Cys) c.3230T>G (p.Phe1077Cys) | |
| 1 | g.10337420T>A | CA338340426 | KIF1B | c.3171T>A (p.Phe1057Leu) c.3234T>A (p.Phe1078Leu) c.3309T>A (p.Phe1103Leu) c.3267T>A (p.Phe1089Leu) c.3231T>A (p.Phe1077Leu) | |
| 1 | g.10337420T>C | CA415883389 | KIF1B | c.3171T>C (p.Phe1057=) c.3234T>C (p.Phe1078=) c.3309T>C (p.Phe1103=) c.3267T>C (p.Phe1089=) c.3231T>C (p.Phe1077=) | |
| 1 | g.10337420T>G | CA338340424 | KIF1B | c.3171T>G (p.Phe1057Leu) c.3234T>G (p.Phe1078Leu) c.3309T>G (p.Phe1103Leu) c.3267T>G (p.Phe1089Leu) c.3231T>G (p.Phe1077Leu) | |
| 1 | g.10337421T>A | CA338340427 | KIF1B | c.3172T>A (p.Ser1058Thr) c.3235T>A (p.Ser1079Thr) c.3310T>A (p.Ser1104Thr) c.3268T>A (p.Ser1090Thr) c.3232T>A (p.Ser1078Thr) | |
| 1 | g.10337421T>C | CA338340429 | KIF1B | c.3172T>C (p.Ser1058Pro) c.3235T>C (p.Ser1079Pro) c.3310T>C (p.Ser1104Pro) c.3268T>C (p.Ser1090Pro) c.3232T>C (p.Ser1078Pro) | |
| 1 | g.10337421T>G | CA338340430 | KIF1B | c.3172T>G (p.Ser1058Ala) c.3235T>G (p.Ser1079Ala) c.3310T>G (p.Ser1104Ala) c.3268T>G (p.Ser1090Ala) c.3232T>G (p.Ser1078Ala) | |
| 1 | g.10337422C>A | CA338340431 | KIF1B | c.3173C>A (p.Ser1058Tyr) c.3236C>A (p.Ser1079Tyr) c.3311C>A (p.Ser1104Tyr) c.3269C>A (p.Ser1090Tyr) c.3233C>A (p.Ser1078Tyr) | |
| 1 | g.10337422C>G | CA338340432 | KIF1B | c.3173C>G (p.Ser1058Cys) c.3236C>G (p.Ser1079Cys) c.3311C>G (p.Ser1104Cys) c.3269C>G (p.Ser1090Cys) c.3233C>G (p.Ser1078Cys) | |
| 1 | g.10337422C>T | CA338340433 | KIF1B | c.3173C>T (p.Ser1058Phe) c.3236C>T (p.Ser1079Phe) c.3311C>T (p.Ser1104Phe) c.3269C>T (p.Ser1090Phe) c.3233C>T (p.Ser1078Phe) | |
| 1 | g.10337423T>A | CA415883398 | KIF1B | c.3174T>A (p.Ser1058=) c.3237T>A (p.Ser1079=) c.3312T>A (p.Ser1104=) c.3270T>A (p.Ser1090=) c.3234T>A (p.Ser1078=) | |
| 1 | g.10337423T>C | CA415883400 | KIF1B | c.3174T>C (p.Ser1058=) c.3237T>C (p.Ser1079=) c.3312T>C (p.Ser1104=) c.3270T>C (p.Ser1090=) c.3234T>C (p.Ser1078=) | |
| 1 | g.10337423T>G | CA415883402 | KIF1B | c.3174T>G (p.Ser1058=) c.3237T>G (p.Ser1079=) c.3312T>G (p.Ser1104=) c.3270T>G (p.Ser1090=) c.3234T>G (p.Ser1078=) | gnomAD v4 |
| 1 | g.10337424G>A | CA338340439 | KIF1B | c.3175G>A (p.Glu1059Lys) c.3238G>A (p.Glu1080Lys) c.3313G>A (p.Glu1105Lys) c.3271G>A (p.Glu1091Lys) c.3235G>A (p.Glu1079Lys) | |
| 1 | g.10337424G>C | CA338340436 | KIF1B | c.3175G>C (p.Glu1059Gln) c.3238G>C (p.Glu1080Gln) c.3313G>C (p.Glu1105Gln) c.3271G>C (p.Glu1091Gln) c.3235G>C (p.Glu1079Gln) | |
| 1 | g.10337424G>T | CA338340437 | KIF1B | c.3175G>T (p.Glu1059Ter) c.3238G>T (p.Glu1080Ter) c.3313G>T (p.Glu1105Ter) c.3271G>T (p.Glu1091Ter) c.3235G>T (p.Glu1079Ter) | |
| 1 | g.10337425A>C | CA338340440 | KIF1B | c.3176A>C (p.Glu1059Ala) c.3239A>C (p.Glu1080Ala) c.3314A>C (p.Glu1105Ala) c.3272A>C (p.Glu1091Ala) c.3236A>C (p.Glu1079Ala) | gnomAD v4 |
| 1 | g.10337425A>G | CA338340441 | KIF1B | c.3176A>G (p.Glu1059Gly) c.3239A>G (p.Glu1080Gly) c.3314A>G (p.Glu1105Gly) c.3272A>G (p.Glu1091Gly) c.3236A>G (p.Glu1079Gly) | |
| 1 | g.10337425A>T | CA338340443 | KIF1B | c.3176A>T (p.Glu1059Val) c.3239A>T (p.Glu1080Val) c.3314A>T (p.Glu1105Val) c.3272A>T (p.Glu1091Val) c.3236A>T (p.Glu1079Val) | |
| 1 | g.10337426A>C | CA338340445 | KIF1B | c.3177A>C (p.Glu1059Asp) c.3240A>C (p.Glu1080Asp) c.3315A>C (p.Glu1105Asp) c.3273A>C (p.Glu1091Asp) c.3237A>C (p.Glu1079Asp) | |
| 1 | g.10337426A>G | CA415883413 | KIF1B | c.3177A>G (p.Glu1059=) c.3240A>G (p.Glu1080=) c.3315A>G (p.Glu1105=) c.3273A>G (p.Glu1091=) c.3237A>G (p.Glu1079=) | |
| 1 | g.10337426A>T | CA338340447 | KIF1B | c.3177A>T (p.Glu1059Asp) c.3240A>T (p.Glu1080Asp) c.3315A>T (p.Glu1105Asp) c.3273A>T (p.Glu1091Asp) c.3237A>T (p.Glu1079Asp) | |
| 1 | g.10337427G>A | CA338340448 | KIF1B | c.3178G>A (p.Glu1060Lys) c.3241G>A (p.Glu1081Lys) c.3316G>A (p.Glu1106Lys) c.3274G>A (p.Glu1092Lys) c.3238G>A (p.Glu1080Lys) | ClinVar |
| 1 | g.10337427G>C | CA581752 | KIF1B | c.3178G>C (p.Glu1060Gln) c.3241G>C (p.Glu1081Gln) c.3316G>C (p.Glu1106Gln) c.3274G>C (p.Glu1092Gln) c.3238G>C (p.Glu1080Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10337427G= | CA1153180514 | KIF1B | c.3178G= (p.Glu1060=) c.3241G= (p.Glu1081=) c.3316G= (p.Glu1106=) c.3274G= (p.Glu1092=) c.3238G= (p.Glu1080=) | |
| 1 | g.10337427G>T | CA338340449 | KIF1B | c.3178G>T (p.Glu1060Ter) c.3241G>T (p.Glu1081Ter) c.3316G>T (p.Glu1106Ter) c.3274G>T (p.Glu1092Ter) c.3238G>T (p.Glu1080Ter) | dbSNP |
| 1 | g.10337428A>C | CA338340451 | KIF1B | c.3179A>C (p.Glu1060Ala) c.3242A>C (p.Glu1081Ala) c.3317A>C (p.Glu1106Ala) c.3275A>C (p.Glu1092Ala) c.3239A>C (p.Glu1080Ala) | |
| 1 | g.10337428A>G | CA338340452 | KIF1B | c.3179A>G (p.Glu1060Gly) c.3242A>G (p.Glu1081Gly) c.3317A>G (p.Glu1106Gly) c.3275A>G (p.Glu1092Gly) c.3239A>G (p.Glu1080Gly) | |
| 1 | g.10337428A>T | CA338340453 | KIF1B | c.3179A>T (p.Glu1060Val) c.3242A>T (p.Glu1081Val) c.3317A>T (p.Glu1106Val) c.3275A>T (p.Glu1092Val) c.3239A>T (p.Glu1080Val) | |
| 1 | g.10337429G>A | CA415883423 | KIF1B | c.3180G>A (p.Glu1060=) c.3243G>A (p.Glu1081=) c.3318G>A (p.Glu1106=) c.3276G>A (p.Glu1092=) c.3240G>A (p.Glu1080=) | COSMIC |
| 1 | g.10337429G>C | CA338340455 | KIF1B | c.3180G>C (p.Glu1060Asp) c.3243G>C (p.Glu1081Asp) c.3318G>C (p.Glu1106Asp) c.3276G>C (p.Glu1092Asp) c.3240G>C (p.Glu1080Asp) | |
| 1 | g.10337429G>T | CA338340456 | KIF1B | c.3180G>T (p.Glu1060Asp) c.3243G>T (p.Glu1081Asp) c.3318G>T (p.Glu1106Asp) c.3276G>T (p.Glu1092Asp) c.3240G>T (p.Glu1080Asp) | |
| 1 | g.10337430A>C | CA338340458 | KIF1B | c.3181A>C (p.Ile1061Leu) c.3244A>C (p.Ile1082Leu) c.3319A>C (p.Ile1107Leu) c.3277A>C (p.Ile1093Leu) c.3241A>C (p.Ile1081Leu) | |
| 1 | g.10337430A>G | CA338340460 | KIF1B | c.3181A>G (p.Ile1061Val) c.3244A>G (p.Ile1082Val) c.3319A>G (p.Ile1107Val) c.3277A>G (p.Ile1093Val) c.3241A>G (p.Ile1081Val) | gnomAD v4 |
| 1 | g.10337430A>T | CA338340461 | KIF1B | c.3181A>T (p.Ile1061Phe) c.3244A>T (p.Ile1082Phe) c.3319A>T (p.Ile1107Phe) c.3277A>T (p.Ile1093Phe) c.3241A>T (p.Ile1081Phe) | |
| 1 | g.10337431T>A | CA338340462 | KIF1B | c.3182T>A (p.Ile1061Asn) c.3245T>A (p.Ile1082Asn) c.3320T>A (p.Ile1107Asn) c.3278T>A (p.Ile1093Asn) c.3242T>A (p.Ile1081Asn) | |
| 1 | g.10337431T>C | CA581753 | KIF1B | c.3182T>C (p.Ile1061Thr) c.3245T>C (p.Ile1082Thr) c.3320T>C (p.Ile1107Thr) c.3278T>C (p.Ile1093Thr) c.3242T>C (p.Ile1081Thr) | dbSNP ExAC gnomAD v2 |
| 1 | g.10337431T>G | CA338340464 | KIF1B | c.3182T>G (p.Ile1061Ser) c.3245T>G (p.Ile1082Ser) c.3320T>G (p.Ile1107Ser) c.3278T>G (p.Ile1093Ser) c.3242T>G (p.Ile1081Ser) | |
| 1 | g.10337431T= | CA1153180522 | KIF1B | c.3182T= (p.Ile1061=) c.3245T= (p.Ile1082=) c.3320T= (p.Ile1107=) c.3278T= (p.Ile1093=) c.3242T= (p.Ile1081=) | |
| 1 | g.10337432T>A | CA415883434 | KIF1B | c.3183T>A (p.Ile1061=) c.3246T>A (p.Ile1082=) c.3321T>A (p.Ile1107=) c.3279T>A (p.Ile1093=) c.3243T>A (p.Ile1081=) | |
| 1 | g.10337432T>C | CA415883435 | KIF1B | c.3183T>C (p.Ile1061=) c.3246T>C (p.Ile1082=) c.3321T>C (p.Ile1107=) c.3279T>C (p.Ile1093=) c.3243T>C (p.Ile1081=) | |
| 1 | g.10337432T>G | CA338340466 | KIF1B | c.3183T>G (p.Ile1061Met) c.3246T>G (p.Ile1082Met) c.3321T>G (p.Ile1107Met) c.3279T>G (p.Ile1093Met) c.3243T>G (p.Ile1081Met) | |
| 1 | g.10337433G>A | CA338340468 | KIF1B | c.3184G>A (p.Gly1062Ser) c.3247G>A (p.Gly1083Ser) c.3322G>A (p.Gly1108Ser) c.3280G>A (p.Gly1094Ser) c.3244G>A (p.Gly1082Ser) | |
| 1 | g.10337433G>C | CA338340470 | KIF1B | c.3184G>C (p.Gly1062Arg) c.3247G>C (p.Gly1083Arg) c.3322G>C (p.Gly1108Arg) c.3280G>C (p.Gly1094Arg) c.3244G>C (p.Gly1082Arg) |