Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.10345842_10345845del | CA2580060459 | KIF1B | c.3752-3_3752del c.3614-3_3614del c.3689-3_3689del c.3551-3_3551del n.144-3_144del n.222_225del c.3647-3_3647del c.3611-3_3611del | ClinVar |
1 | g.10345843A>C | CA338342217 | KIF1B | c.3752-2A>C (n.3752-2A>C) c.3614-2A>C (n.3614-2A>C) c.3689-2A>C (n.3689-2A>C) c.3551-2A>C (n.3551-2A>C) n.144-2A>C n.223A>C c.3647-2A>C (n.3647-2A>C) c.3611-2A>C (n.3611-2A>C) | COSMIC |
1 | g.10345843A>G | CA338342219 | KIF1B | c.3752-2A>G (n.3752-2A>G) c.3614-2A>G (n.3614-2A>G) c.3689-2A>G (n.3689-2A>G) c.3551-2A>G (n.3551-2A>G) n.144-2A>G n.223A>G c.3647-2A>G (n.3647-2A>G) c.3611-2A>G (n.3611-2A>G) | |
1 | g.10345843A>T | CA338342221 | KIF1B | c.3752-2A>T (n.3752-2A>T) c.3614-2A>T (n.3614-2A>T) c.3689-2A>T (n.3689-2A>T) c.3551-2A>T (n.3551-2A>T) n.144-2A>T n.223A>T c.3647-2A>T (n.3647-2A>T) c.3611-2A>T (n.3611-2A>T) | |
1 | g.10345844G>A | CA338342223 | KIF1B | c.3752-1G>A (n.3752-1G>A) c.3614-1G>A (n.3614-1G>A) c.3689-1G>A (n.3689-1G>A) c.3551-1G>A (n.3551-1G>A) n.144-1G>A n.224G>A c.3647-1G>A (n.3647-1G>A) c.3611-1G>A (n.3611-1G>A) | gnomAD v4 |
1 | g.10345844G>C | CA338342224 | KIF1B | c.3752-1G>C (n.3752-1G>C) c.3614-1G>C (n.3614-1G>C) c.3689-1G>C (n.3689-1G>C) c.3551-1G>C (n.3551-1G>C) n.144-1G>C n.224G>C c.3647-1G>C (n.3647-1G>C) c.3611-1G>C (n.3611-1G>C) | |
1 | g.10345844G>T | CA338342226 | KIF1B | c.3752-1G>T (n.3752-1G>T) c.3614-1G>T (n.3614-1G>T) c.3689-1G>T (n.3689-1G>T) c.3551-1G>T (n.3551-1G>T) n.144-1G>T n.224G>T c.3647-1G>T (n.3647-1G>T) c.3611-1G>T (n.3611-1G>T) | |
1 | g.10345845T>A | CA338342231 | KIF1B | c.3752T>A (p.Val1251Asp) c.3614T>A (p.Val1205Asp) c.3689T>A (p.Val1230Asp) c.3551T>A (p.Val1184Asp) n.144T>A n.225T>A c.3647T>A (p.Val1216Asp) c.3611T>A (p.Val1204Asp) | |
1 | g.10345845T>C | CA338342229 | KIF1B | c.3752T>C (p.Val1251Ala) c.3614T>C (p.Val1205Ala) c.3689T>C (p.Val1230Ala) c.3551T>C (p.Val1184Ala) n.144T>C n.225T>C c.3647T>C (p.Val1216Ala) c.3611T>C (p.Val1204Ala) | |
1 | g.10345845T>G | CA338342227 | KIF1B | c.3752T>G (p.Val1251Gly) c.3614T>G (p.Val1205Gly) c.3689T>G (p.Val1230Gly) c.3551T>G (p.Val1184Gly) n.144T>G n.225T>G c.3647T>G (p.Val1216Gly) c.3611T>G (p.Val1204Gly) | |
1 | g.10345846T>A | CA415884410 | KIF1B | c.3753T>A (p.Val1251=) c.3615T>A (p.Val1205=) c.3690T>A (p.Val1230=) c.3552T>A (p.Val1184=) n.145T>A n.226T>A c.3648T>A (p.Val1216=) c.3612T>A (p.Val1204=) | |
1 | g.10345846T>C | CA415884411 | KIF1B | c.3753T>C (p.Val1251=) c.3615T>C (p.Val1205=) c.3690T>C (p.Val1230=) c.3552T>C (p.Val1184=) n.145T>C n.226T>C c.3648T>C (p.Val1216=) c.3612T>C (p.Val1204=) | |
1 | g.10345846T>G | CA415884412 | KIF1B | c.3753T>G (p.Val1251=) c.3615T>G (p.Val1205=) c.3690T>G (p.Val1230=) c.3552T>G (p.Val1184=) n.145T>G n.226T>G c.3648T>G (p.Val1216=) c.3612T>G (p.Val1204=) | |
1 | g.10345847C>A | CA338342232 | KIF1B | c.3754C>A (p.Pro1252Thr) c.3616C>A (p.Pro1206Thr) c.3691C>A (p.Pro1231Thr) c.3553C>A (p.Pro1185Thr) n.146C>A n.227C>A c.3649C>A (p.Pro1217Thr) c.3613C>A (p.Pro1205Thr) | |
1 | g.10345847C= | CA1153146184 | KIF1B | c.3754C= (p.Pro1252=) c.3616C= (p.Pro1206=) c.3691C= (p.Pro1231=) c.3553C= (p.Pro1185=) n.146C= n.227C= c.3649C= (p.Pro1217=) c.3613C= (p.Pro1205=) | |
1 | g.10345847C>G | CA338342234 | KIF1B | c.3754C>G (p.Pro1252Ala) c.3616C>G (p.Pro1206Ala) c.3691C>G (p.Pro1231Ala) c.3553C>G (p.Pro1185Ala) n.146C>G n.227C>G c.3649C>G (p.Pro1217Ala) c.3613C>G (p.Pro1205Ala) | |
1 | g.10345847C>T | CA338342236 | KIF1B | c.3754C>T (p.Pro1252Ser) c.3616C>T (p.Pro1206Ser) c.3691C>T (p.Pro1231Ser) c.3553C>T (p.Pro1185Ser) n.146C>T n.227C>T c.3649C>T (p.Pro1217Ser) c.3613C>T (p.Pro1205Ser) | ClinVar dbSNP |
1 | g.10345848C>A | CA338342237 | KIF1B | c.3755C>A (p.Pro1252Gln) c.3617C>A (p.Pro1206Gln) c.3692C>A (p.Pro1231Gln) c.3554C>A (p.Pro1185Gln) n.147C>A n.228C>A c.3650C>A (p.Pro1217Gln) c.3614C>A (p.Pro1205Gln) | |
1 | g.10345848C>G | CA338342238 | KIF1B | c.3755C>G (p.Pro1252Arg) c.3617C>G (p.Pro1206Arg) c.3692C>G (p.Pro1231Arg) c.3554C>G (p.Pro1185Arg) n.147C>G n.228C>G c.3650C>G (p.Pro1217Arg) c.3614C>G (p.Pro1205Arg) | |
1 | g.10345848C>T | CA338342240 | KIF1B | c.3755C>T (p.Pro1252Leu) c.3617C>T (p.Pro1206Leu) c.3692C>T (p.Pro1231Leu) c.3554C>T (p.Pro1185Leu) n.147C>T n.228C>T c.3650C>T (p.Pro1217Leu) c.3614C>T (p.Pro1205Leu) | |
1 | g.10345849A>C | CA415884415 | KIF1B | c.3756A>C (p.Pro1252=) c.3618A>C (p.Pro1206=) c.3693A>C (p.Pro1231=) c.3555A>C (p.Pro1185=) n.148A>C n.229A>C c.3651A>C (p.Pro1217=) c.3615A>C (p.Pro1205=) | |
1 | g.10345849A>G | CA415884417 | KIF1B | c.3756A>G (p.Pro1252=) c.3618A>G (p.Pro1206=) c.3693A>G (p.Pro1231=) c.3555A>G (p.Pro1185=) n.148A>G n.229A>G c.3651A>G (p.Pro1217=) c.3615A>G (p.Pro1205=) | |
1 | g.10345849A>T | CA415884418 | KIF1B | c.3756A>T (p.Pro1252=) c.3618A>T (p.Pro1206=) c.3693A>T (p.Pro1231=) c.3555A>T (p.Pro1185=) n.148A>T n.229A>T c.3651A>T (p.Pro1217=) c.3615A>T (p.Pro1205=) | |
1 | g.10345850G>A | CA338342242 | KIF1B | c.3757G>A (p.Ala1253Thr) c.3619G>A (p.Ala1207Thr) c.3694G>A (p.Ala1232Thr) c.3556G>A (p.Ala1186Thr) n.149G>A n.230G>A c.3652G>A (p.Ala1218Thr) c.3616G>A (p.Ala1206Thr) | |
1 | g.10345850G>C | CA338342244 | KIF1B | c.3757G>C (p.Ala1253Pro) c.3619G>C (p.Ala1207Pro) c.3694G>C (p.Ala1232Pro) c.3556G>C (p.Ala1186Pro) n.149G>C n.230G>C c.3652G>C (p.Ala1218Pro) c.3616G>C (p.Ala1206Pro) | |
1 | g.10345850G>T | CA338342246 | KIF1B | c.3757G>T (p.Ala1253Ser) c.3619G>T (p.Ala1207Ser) c.3694G>T (p.Ala1232Ser) c.3556G>T (p.Ala1186Ser) n.149G>T n.230G>T c.3652G>T (p.Ala1218Ser) c.3616G>T (p.Ala1206Ser) | |
1 | g.10345851C>A | CA338342248 | KIF1B | c.3758C>A (p.Ala1253Asp) c.3620C>A (p.Ala1207Asp) c.3695C>A (p.Ala1232Asp) c.3557C>A (p.Ala1186Asp) n.150C>A n.231C>A c.3653C>A (p.Ala1218Asp) c.3617C>A (p.Ala1206Asp) | dbSNP gnomAD v4 |
1 | g.10345851C= | CA1153146185 | KIF1B | c.3758C= (p.Ala1253=) c.3620C= (p.Ala1207=) c.3695C= (p.Ala1232=) c.3557C= (p.Ala1186=) n.150C= n.231C= c.3653C= (p.Ala1218=) c.3617C= (p.Ala1206=) | |
1 | g.10345851C>G | CA338342250 | KIF1B | c.3758C>G (p.Ala1253Gly) c.3620C>G (p.Ala1207Gly) c.3695C>G (p.Ala1232Gly) c.3557C>G (p.Ala1186Gly) n.150C>G n.231C>G c.3653C>G (p.Ala1218Gly) c.3617C>G (p.Ala1206Gly) | |
1 | g.10345851C>T | CA338342251 | KIF1B | c.3758C>T (p.Ala1253Val) c.3620C>T (p.Ala1207Val) c.3695C>T (p.Ala1232Val) c.3557C>T (p.Ala1186Val) n.150C>T n.231C>T c.3653C>T (p.Ala1218Val) c.3617C>T (p.Ala1206Val) | |
1 | g.10345852C>A | CA415884423 | KIF1B | c.3759C>A (p.Ala1253=) c.3621C>A (p.Ala1207=) c.3696C>A (p.Ala1232=) c.3558C>A (p.Ala1186=) n.151C>A n.232C>A c.3654C>A (p.Ala1218=) c.3618C>A (p.Ala1206=) | |
1 | g.10345852C>G | CA415884424 | KIF1B | c.3759C>G (p.Ala1253=) c.3621C>G (p.Ala1207=) c.3696C>G (p.Ala1232=) c.3558C>G (p.Ala1186=) n.151C>G n.232C>G c.3654C>G (p.Ala1218=) c.3618C>G (p.Ala1206=) | |
1 | g.10345852C>T | CA415884425 | KIF1B | c.3759C>T (p.Ala1253=) c.3621C>T (p.Ala1207=) c.3696C>T (p.Ala1232=) c.3558C>T (p.Ala1186=) n.151C>T n.232C>T c.3654C>T (p.Ala1218=) c.3618C>T (p.Ala1206=) | |
1 | g.10345853A>C | CA338342255 | KIF1B | c.3760A>C (p.Thr1254Pro) c.3622A>C (p.Thr1208Pro) c.3697A>C (p.Thr1233Pro) c.3559A>C (p.Thr1187Pro) n.152A>C n.233A>C c.3655A>C (p.Thr1219Pro) c.3619A>C (p.Thr1207Pro) | |
1 | g.10345853A>G | CA338342258 | KIF1B | c.3760A>G (p.Thr1254Ala) c.3622A>G (p.Thr1208Ala) c.3697A>G (p.Thr1233Ala) c.3559A>G (p.Thr1187Ala) n.152A>G n.233A>G c.3655A>G (p.Thr1219Ala) c.3619A>G (p.Thr1207Ala) | gnomAD v4 |
1 | g.10345853A>T | CA338342254 | KIF1B | c.3760A>T (p.Thr1254Ser) c.3622A>T (p.Thr1208Ser) c.3697A>T (p.Thr1233Ser) c.3559A>T (p.Thr1187Ser) n.152A>T n.233A>T c.3655A>T (p.Thr1219Ser) c.3619A>T (p.Thr1207Ser) | |
1 | g.10345854C>A | CA338342259 | KIF1B | c.3761C>A (p.Thr1254Asn) c.3623C>A (p.Thr1208Asn) c.3698C>A (p.Thr1233Asn) c.3560C>A (p.Thr1187Asn) n.153C>A n.234C>A c.3656C>A (p.Thr1219Asn) c.3620C>A (p.Thr1207Asn) | |
1 | g.10345854C= | CA1153146186 | KIF1B | c.3761C= (p.Thr1254=) c.3623C= (p.Thr1208=) c.3698C= (p.Thr1233=) c.3560C= (p.Thr1187=) n.153C= n.234C= c.3656C= (p.Thr1219=) c.3620C= (p.Thr1207=) | |
1 | g.10345854C>G | CA338342261 | KIF1B | c.3761C>G (p.Thr1254Ser) c.3623C>G (p.Thr1208Ser) c.3698C>G (p.Thr1233Ser) c.3560C>G (p.Thr1187Ser) n.153C>G n.234C>G c.3656C>G (p.Thr1219Ser) c.3620C>G (p.Thr1207Ser) | |
1 | g.10345854C>T | CA338342262 | KIF1B | c.3761C>T (p.Thr1254Ile) c.3623C>T (p.Thr1208Ile) c.3698C>T (p.Thr1233Ile) c.3560C>T (p.Thr1187Ile) n.153C>T n.234C>T c.3656C>T (p.Thr1219Ile) c.3620C>T (p.Thr1207Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10345855C>A | CA415884430 | KIF1B | c.3762C>A (p.Thr1254=) c.3624C>A (p.Thr1208=) c.3699C>A (p.Thr1233=) c.3561C>A (p.Thr1187=) n.154C>A n.235C>A c.3657C>A (p.Thr1219=) c.3621C>A (p.Thr1207=) | |
1 | g.10345855C>G | CA415884432 | KIF1B | c.3762C>G (p.Thr1254=) c.3624C>G (p.Thr1208=) c.3699C>G (p.Thr1233=) c.3561C>G (p.Thr1187=) n.154C>G n.235C>G c.3657C>G (p.Thr1219=) c.3621C>G (p.Thr1207=) | |
1 | g.10345855C>T | CA415884433 | KIF1B | c.3762C>T (p.Thr1254=) c.3624C>T (p.Thr1208=) c.3699C>T (p.Thr1233=) c.3561C>T (p.Thr1187=) n.154C>T n.235C>T c.3657C>T (p.Thr1219=) c.3621C>T (p.Thr1207=) | |
1 | g.10345856A= | CA1153146187 | KIF1B | c.3763A= (p.Lys1255=) c.3625A= (p.Lys1209=) c.3700A= (p.Lys1234=) c.3562A= (p.Lys1188=) n.155A= n.236A= c.3658A= (p.Lys1220=) c.3622A= (p.Lys1208=) | |
1 | g.10345856A>C | CA338342263 | KIF1B | c.3763A>C (p.Lys1255Gln) c.3625A>C (p.Lys1209Gln) c.3700A>C (p.Lys1234Gln) c.3562A>C (p.Lys1188Gln) n.155A>C n.236A>C c.3658A>C (p.Lys1220Gln) c.3622A>C (p.Lys1208Gln) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.10345856A>G | CA338342264 | KIF1B | c.3763A>G (p.Lys1255Glu) c.3625A>G (p.Lys1209Glu) c.3700A>G (p.Lys1234Glu) c.3562A>G (p.Lys1188Glu) n.155A>G n.236A>G c.3658A>G (p.Lys1220Glu) c.3622A>G (p.Lys1208Glu) | |
1 | g.10345856A>T | CA338342265 | KIF1B | c.3763A>T (p.Lys1255Ter) c.3625A>T (p.Lys1209Ter) c.3700A>T (p.Lys1234Ter) c.3562A>T (p.Lys1188Ter) n.155A>T n.236A>T c.3658A>T (p.Lys1220Ter) c.3622A>T (p.Lys1208Ter) | |
1 | g.10345857A>C | CA338342266 | KIF1B | c.3764A>C (p.Lys1255Thr) c.3626A>C (p.Lys1209Thr) c.3701A>C (p.Lys1234Thr) c.3563A>C (p.Lys1188Thr) n.156A>C n.237A>C c.3659A>C (p.Lys1220Thr) c.3623A>C (p.Lys1208Thr) | |
1 | g.10345857A>G | CA338342267 | KIF1B | c.3764A>G (p.Lys1255Arg) c.3626A>G (p.Lys1209Arg) c.3701A>G (p.Lys1234Arg) c.3563A>G (p.Lys1188Arg) n.156A>G n.237A>G c.3659A>G (p.Lys1220Arg) c.3623A>G (p.Lys1208Arg) | |
1 | g.10345857A>T | CA338342268 | KIF1B | c.3764A>T (p.Lys1255Met) c.3626A>T (p.Lys1209Met) c.3701A>T (p.Lys1234Met) c.3563A>T (p.Lys1188Met) n.156A>T n.237A>T c.3659A>T (p.Lys1220Met) c.3623A>T (p.Lys1208Met) | |
1 | g.10345858G>A | CA581859 | KIF1B | c.3765G>A (p.Lys1255=) c.3627G>A (p.Lys1209=) c.3702G>A (p.Lys1234=) c.3564G>A (p.Lys1188=) n.157G>A n.238G>A c.3660G>A (p.Lys1220=) c.3624G>A (p.Lys1208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10345858G>C | CA338342271 | KIF1B | c.3765G>C (p.Lys1255Asn) c.3627G>C (p.Lys1209Asn) c.3702G>C (p.Lys1234Asn) c.3564G>C (p.Lys1188Asn) n.157G>C n.238G>C c.3660G>C (p.Lys1220Asn) c.3624G>C (p.Lys1208Asn) | |
1 | g.10345858G= | CA1153146188 | KIF1B | c.3765G= (p.Lys1255=) c.3627G= (p.Lys1209=) c.3702G= (p.Lys1234=) c.3564G= (p.Lys1188=) n.157G= n.238G= c.3660G= (p.Lys1220=) c.3624G= (p.Lys1208=) | |
1 | g.10345858G>T | CA338342273 | KIF1B | c.3765G>T (p.Lys1255Asn) c.3627G>T (p.Lys1209Asn) c.3702G>T (p.Lys1234Asn) c.3564G>T (p.Lys1188Asn) n.157G>T n.238G>T c.3660G>T (p.Lys1220Asn) c.3624G>T (p.Lys1208Asn) | |
1 | g.10345859T>A | CA338342277 | KIF1B | c.3766T>A (p.Leu1256Ile) c.3628T>A (p.Leu1210Ile) c.3703T>A (p.Leu1235Ile) c.3565T>A (p.Leu1189Ile) n.158T>A n.239T>A c.3661T>A (p.Leu1221Ile) c.3625T>A (p.Leu1209Ile) | |
1 | g.10345859T>C | CA581860 | KIF1B | c.3766T>C (p.Leu1256=) c.3628T>C (p.Leu1210=) c.3703T>C (p.Leu1235=) c.3565T>C (p.Leu1189=) n.158T>C n.239T>C c.3661T>C (p.Leu1221=) c.3625T>C (p.Leu1209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10345859T>G | CA338342275 | KIF1B | c.3766T>G (p.Leu1256Val) c.3628T>G (p.Leu1210Val) c.3703T>G (p.Leu1235Val) c.3565T>G (p.Leu1189Val) n.158T>G n.239T>G c.3661T>G (p.Leu1221Val) c.3625T>G (p.Leu1209Val) | |
1 | g.10345859T= | CA1153146189 | KIF1B | c.3766T= (p.Leu1256=) c.3628T= (p.Leu1210=) c.3703T= (p.Leu1235=) c.3565T= (p.Leu1189=) n.158T= n.239T= c.3661T= (p.Leu1221=) c.3625T= (p.Leu1209=) | |
1 | g.10345860del | CA2574206280 | KIF1B | c.3767del (p.Leu1256Ter) c.3629del (p.Leu1210Ter) c.3704del (p.Leu1235Ter) c.3566del (p.Leu1189Ter) n.159del n.240del c.3662del (p.Leu1221Ter) c.3626del (p.Leu1209Ter) | |
1 | g.10345860T>A | CA338342279 | KIF1B | c.3767T>A (p.Leu1256Ter) c.3629T>A (p.Leu1210Ter) c.3704T>A (p.Leu1235Ter) c.3566T>A (p.Leu1189Ter) n.159T>A n.240T>A c.3662T>A (p.Leu1221Ter) c.3626T>A (p.Leu1209Ter) | |
1 | g.10345860T>C | CA338342281 | KIF1B | c.3767T>C (p.Leu1256Ser) c.3629T>C (p.Leu1210Ser) c.3704T>C (p.Leu1235Ser) c.3566T>C (p.Leu1189Ser) n.159T>C n.240T>C c.3662T>C (p.Leu1221Ser) c.3626T>C (p.Leu1209Ser) | |
1 | g.10345860T>G | CA338342282 | KIF1B | c.3767T>G (p.Leu1256Ter) c.3629T>G (p.Leu1210Ter) c.3704T>G (p.Leu1235Ter) c.3566T>G (p.Leu1189Ter) n.159T>G n.240T>G c.3662T>G (p.Leu1221Ter) c.3626T>G (p.Leu1209Ter) | gnomAD v4 |
1 | g.10345861A= | CA1153146190 | KIF1B | c.3768A= (p.Leu1256=) c.3630A= (p.Leu1210=) c.3705A= (p.Leu1235=) c.3567A= (p.Leu1189=) n.160A= n.241A= c.3663A= (p.Leu1221=) c.3627A= (p.Leu1209=) | |
1 | g.10345861A>C | CA338342284 | KIF1B | c.3768A>C (p.Leu1256Phe) c.3630A>C (p.Leu1210Phe) c.3705A>C (p.Leu1235Phe) c.3567A>C (p.Leu1189Phe) n.160A>C n.241A>C c.3663A>C (p.Leu1221Phe) c.3627A>C (p.Leu1209Phe) | |
1 | g.10345861A>G | CA415884438 | KIF1B | c.3768A>G (p.Leu1256=) c.3630A>G (p.Leu1210=) c.3705A>G (p.Leu1235=) c.3567A>G (p.Leu1189=) n.160A>G n.241A>G c.3663A>G (p.Leu1221=) c.3627A>G (p.Leu1209=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.10345861A>T | CA338342285 | KIF1B | c.3768A>T (p.Leu1256Phe) c.3630A>T (p.Leu1210Phe) c.3705A>T (p.Leu1235Phe) c.3567A>T (p.Leu1189Phe) n.160A>T n.241A>T c.3663A>T (p.Leu1221Phe) c.3627A>T (p.Leu1209Phe) | |
1 | g.10345862A>C | CA338342289 | KIF1B | c.3769A>C (p.Asn1257His) c.3631A>C (p.Asn1211His) c.3706A>C (p.Asn1236His) c.3568A>C (p.Asn1190His) n.161A>C n.242A>C c.3664A>C (p.Asn1222His) c.3628A>C (p.Asn1210His) | |
1 | g.10345862A>G | CA338342287 | KIF1B | c.3769A>G (p.Asn1257Asp) c.3631A>G (p.Asn1211Asp) c.3706A>G (p.Asn1236Asp) c.3568A>G (p.Asn1190Asp) n.161A>G n.242A>G c.3664A>G (p.Asn1222Asp) c.3628A>G (p.Asn1210Asp) | |
1 | g.10345862A>T | CA338342288 | KIF1B | c.3769A>T (p.Asn1257Tyr) c.3631A>T (p.Asn1211Tyr) c.3706A>T (p.Asn1236Tyr) c.3568A>T (p.Asn1190Tyr) n.161A>T n.242A>T c.3664A>T (p.Asn1222Tyr) c.3628A>T (p.Asn1210Tyr) | |
1 | g.10345863A>C | CA338342291 | KIF1B | c.3770A>C (p.Asn1257Thr) c.3632A>C (p.Asn1211Thr) c.3707A>C (p.Asn1236Thr) c.3569A>C (p.Asn1190Thr) n.162A>C n.243A>C c.3665A>C (p.Asn1222Thr) c.3629A>C (p.Asn1210Thr) | |
1 | g.10345863A>G | CA338342293 | KIF1B | c.3770A>G (p.Asn1257Ser) c.3632A>G (p.Asn1211Ser) c.3707A>G (p.Asn1236Ser) c.3569A>G (p.Asn1190Ser) n.162A>G n.243A>G c.3665A>G (p.Asn1222Ser) c.3629A>G (p.Asn1210Ser) | |
1 | g.10345863A>T | CA338342294 | KIF1B | c.3770A>T (p.Asn1257Ile) c.3632A>T (p.Asn1211Ile) c.3707A>T (p.Asn1236Ile) c.3569A>T (p.Asn1190Ile) n.162A>T n.243A>T c.3665A>T (p.Asn1222Ile) c.3629A>T (p.Asn1210Ile) | |
1 | g.10345864C>A | CA338342296 | KIF1B | c.3771C>A (p.Asn1257Lys) c.3633C>A (p.Asn1211Lys) c.3708C>A (p.Asn1236Lys) c.3570C>A (p.Asn1190Lys) n.163C>A n.244C>A c.3666C>A (p.Asn1222Lys) c.3630C>A (p.Asn1210Lys) | |
1 | g.10345864C>G | CA338342297 | KIF1B | c.3771C>G (p.Asn1257Lys) c.3633C>G (p.Asn1211Lys) c.3708C>G (p.Asn1236Lys) c.3570C>G (p.Asn1190Lys) n.163C>G n.244C>G c.3666C>G (p.Asn1222Lys) c.3630C>G (p.Asn1210Lys) | |
1 | g.10345864C>T | CA415884440 | KIF1B | c.3771C>T (p.Asn1257=) c.3633C>T (p.Asn1211=) c.3708C>T (p.Asn1236=) c.3570C>T (p.Asn1190=) n.163C>T n.244C>T c.3666C>T (p.Asn1222=) c.3630C>T (p.Asn1210=) | |
1 | g.10345865A>C | CA338342302 | KIF1B | c.3772A>C (p.Thr1258Pro) c.3634A>C (p.Thr1212Pro) c.3709A>C (p.Thr1237Pro) c.3571A>C (p.Thr1191Pro) n.164A>C n.245A>C c.3667A>C (p.Thr1223Pro) c.3631A>C (p.Thr1211Pro) | |
1 | g.10345865A>G | CA338342300 | KIF1B | c.3772A>G (p.Thr1258Ala) c.3634A>G (p.Thr1212Ala) c.3709A>G (p.Thr1237Ala) c.3571A>G (p.Thr1191Ala) n.164A>G n.245A>G c.3667A>G (p.Thr1223Ala) c.3631A>G (p.Thr1211Ala) | ClinVar |
1 | g.10345865A>T | CA338342299 | KIF1B | c.3772A>T (p.Thr1258Ser) c.3634A>T (p.Thr1212Ser) c.3709A>T (p.Thr1237Ser) c.3571A>T (p.Thr1191Ser) n.164A>T n.245A>T c.3667A>T (p.Thr1223Ser) c.3631A>T (p.Thr1211Ser) | |
1 | g.10345866C>A | CA338342304 | KIF1B | c.3773C>A (p.Thr1258Lys) c.3635C>A (p.Thr1212Lys) c.3710C>A (p.Thr1237Lys) c.3572C>A (p.Thr1191Lys) n.165C>A n.246C>A c.3668C>A (p.Thr1223Lys) c.3632C>A (p.Thr1211Lys) | gnomAD v4 |
1 | g.10345866C= | CA1153146191 | KIF1B | c.3773C= (p.Thr1258=) c.3635C= (p.Thr1212=) c.3710C= (p.Thr1237=) c.3572C= (p.Thr1191=) n.165C= n.246C= c.3668C= (p.Thr1223=) c.3632C= (p.Thr1211=) | |
1 | g.10345866C>G | CA338342307 | KIF1B | c.3773C>G (p.Thr1258Arg) c.3635C>G (p.Thr1212Arg) c.3710C>G (p.Thr1237Arg) c.3572C>G (p.Thr1191Arg) n.165C>G n.246C>G c.3668C>G (p.Thr1223Arg) c.3632C>G (p.Thr1211Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10345866C>T | CA338342305 | KIF1B | c.3773C>T (p.Thr1258Met) c.3635C>T (p.Thr1212Met) c.3710C>T (p.Thr1237Met) c.3572C>T (p.Thr1191Met) n.165C>T n.246C>T c.3668C>T (p.Thr1223Met) c.3632C>T (p.Thr1211Met) | ClinVar dbSNP gnomAD v4 |
1 | g.10345867G>A | CA581861 | KIF1B | c.3774G>A (p.Thr1258=) c.3636G>A (p.Thr1212=) c.3711G>A (p.Thr1237=) c.3573G>A (p.Thr1191=) n.166G>A n.247G>A c.3669G>A (p.Thr1223=) c.3633G>A (p.Thr1211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10345867G>C | CA415884442 | KIF1B | c.3774G>C (p.Thr1258=) c.3636G>C (p.Thr1212=) c.3711G>C (p.Thr1237=) c.3573G>C (p.Thr1191=) n.166G>C n.247G>C c.3669G>C (p.Thr1223=) c.3633G>C (p.Thr1211=) | |
1 | g.10345867G= | CA1153146192 | KIF1B | c.3774G= (p.Thr1258=) c.3636G= (p.Thr1212=) c.3711G= (p.Thr1237=) c.3573G= (p.Thr1191=) n.166G= n.247G= c.3669G= (p.Thr1223=) c.3633G= (p.Thr1211=) | |
1 | g.10345867G>T | CA415884441 | KIF1B | c.3774G>T (p.Thr1258=) c.3636G>T (p.Thr1212=) c.3711G>T (p.Thr1237=) c.3573G>T (p.Thr1191=) n.166G>T n.247G>T c.3669G>T (p.Thr1223=) c.3633G>T (p.Thr1211=) | |
1 | g.10345868A= | CA1153146193 | KIF1B | c.3775A= (p.Met1259=) c.3637A= (p.Met1213=) c.3712A= (p.Met1238=) c.3574A= (p.Met1192=) n.167A= n.248A= c.3670A= (p.Met1224=) c.3634A= (p.Met1212=) | |
1 | g.10345868A>C | CA338342310 | KIF1B | c.3775A>C (p.Met1259Leu) c.3637A>C (p.Met1213Leu) c.3712A>C (p.Met1238Leu) c.3574A>C (p.Met1192Leu) n.167A>C n.248A>C c.3670A>C (p.Met1224Leu) c.3634A>C (p.Met1212Leu) | |
1 | g.10345868A>G | CA581862 | KIF1B | c.3775A>G (p.Met1259Val) c.3637A>G (p.Met1213Val) c.3712A>G (p.Met1238Val) c.3574A>G (p.Met1192Val) n.167A>G n.248A>G c.3670A>G (p.Met1224Val) c.3634A>G (p.Met1212Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10345868A>T | CA338342308 | KIF1B | c.3775A>T (p.Met1259Leu) c.3637A>T (p.Met1213Leu) c.3712A>T (p.Met1238Leu) c.3574A>T (p.Met1192Leu) n.167A>T n.248A>T c.3670A>T (p.Met1224Leu) c.3634A>T (p.Met1212Leu) | |
1 | g.10345869T>A | CA338342311 | KIF1B | c.3776T>A (p.Met1259Lys) c.3638T>A (p.Met1213Lys) c.3713T>A (p.Met1238Lys) c.3575T>A (p.Met1192Lys) n.168T>A n.249T>A c.3671T>A (p.Met1224Lys) c.3635T>A (p.Met1212Lys) | |
1 | g.10345869T>C | CA338342313 | KIF1B | c.3776T>C (p.Met1259Thr) c.3638T>C (p.Met1213Thr) c.3713T>C (p.Met1238Thr) c.3575T>C (p.Met1192Thr) n.168T>C n.249T>C c.3671T>C (p.Met1224Thr) c.3635T>C (p.Met1212Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.10345869T>G | CA338342314 | KIF1B | c.3776T>G (p.Met1259Arg) c.3638T>G (p.Met1213Arg) c.3713T>G (p.Met1238Arg) c.3575T>G (p.Met1192Arg) n.168T>G n.249T>G c.3671T>G (p.Met1224Arg) c.3635T>G (p.Met1212Arg) | |
1 | g.10345869T= | CA1153146194 | KIF1B | c.3776T= (p.Met1259=) c.3638T= (p.Met1213=) c.3713T= (p.Met1238=) c.3575T= (p.Met1192=) n.168T= n.249T= c.3671T= (p.Met1224=) c.3635T= (p.Met1212=) | |
1 | g.10345870G>A | CA338342315 | KIF1B | c.3777G>A (p.Met1259Ile) c.3639G>A (p.Met1213Ile) c.3714G>A (p.Met1238Ile) c.3576G>A (p.Met1192Ile) n.169G>A n.250G>A c.3672G>A (p.Met1224Ile) c.3636G>A (p.Met1212Ile) | dbSNP gnomAD v4 |
1 | g.10345870G>C | CA338342316 | KIF1B | c.3777G>C (p.Met1259Ile) c.3639G>C (p.Met1213Ile) c.3714G>C (p.Met1238Ile) c.3576G>C (p.Met1192Ile) n.169G>C n.250G>C c.3672G>C (p.Met1224Ile) c.3636G>C (p.Met1212Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10345870G= | CA1153146195 | KIF1B | c.3777G= (p.Met1259=) c.3639G= (p.Met1213=) c.3714G= (p.Met1238=) c.3576G= (p.Met1192=) n.169G= n.250G= c.3672G= (p.Met1224=) c.3636G= (p.Met1212=) | |
1 | g.10345870G>T | CA338342318 | KIF1B | c.3777G>T (p.Met1259Ile) c.3639G>T (p.Met1213Ile) c.3714G>T (p.Met1238Ile) c.3576G>T (p.Met1192Ile) n.169G>T n.250G>T c.3672G>T (p.Met1224Ile) c.3636G>T (p.Met1212Ile) | |
1 | g.10345871A>C | CA338342320 | KIF1B | c.3778A>C (p.Ser1260Arg) c.3640A>C (p.Ser1214Arg) c.3715A>C (p.Ser1239Arg) c.3577A>C (p.Ser1193Arg) n.170A>C n.251A>C c.3673A>C (p.Ser1225Arg) c.3637A>C (p.Ser1213Arg) | |
1 | g.10345871A>G | CA338342322 | KIF1B | c.3778A>G (p.Ser1260Gly) c.3640A>G (p.Ser1214Gly) c.3715A>G (p.Ser1239Gly) c.3577A>G (p.Ser1193Gly) n.170A>G n.251A>G c.3673A>G (p.Ser1225Gly) c.3637A>G (p.Ser1213Gly) | |
1 | g.10345871A>T | CA338342323 | KIF1B | c.3778A>T (p.Ser1260Cys) c.3640A>T (p.Ser1214Cys) c.3715A>T (p.Ser1239Cys) c.3577A>T (p.Ser1193Cys) n.170A>T n.251A>T c.3673A>T (p.Ser1225Cys) c.3637A>T (p.Ser1213Cys) | |
1 | g.10345872G>A | CA338342329 | KIF1B | c.3779G>A (p.Ser1260Asn) c.3641G>A (p.Ser1214Asn) c.3716G>A (p.Ser1239Asn) c.3578G>A (p.Ser1193Asn) n.171G>A n.252G>A c.3674G>A (p.Ser1225Asn) c.3638G>A (p.Ser1213Asn) | |
1 | g.10345872G>C | CA338342325 | KIF1B | c.3779G>C (p.Ser1260Thr) c.3641G>C (p.Ser1214Thr) c.3716G>C (p.Ser1239Thr) c.3578G>C (p.Ser1193Thr) n.171G>C n.252G>C c.3674G>C (p.Ser1225Thr) c.3638G>C (p.Ser1213Thr) | |
1 | g.10345872G>T | CA338342327 | KIF1B | c.3779G>T (p.Ser1260Ile) c.3641G>T (p.Ser1214Ile) c.3716G>T (p.Ser1239Ile) c.3578G>T (p.Ser1193Ile) n.171G>T n.252G>T c.3674G>T (p.Ser1225Ile) c.3638G>T (p.Ser1213Ile) | |
1 | g.10345873C>A | CA338342330 | KIF1B | c.3780C>A (p.Ser1260Arg) c.3642C>A (p.Ser1214Arg) c.3717C>A (p.Ser1239Arg) c.3579C>A (p.Ser1193Arg) n.172C>A n.253C>A c.3675C>A (p.Ser1225Arg) c.3639C>A (p.Ser1213Arg) | gnomAD v4 |
1 | g.10345873C= | CA1153146196 | KIF1B | c.3780C= (p.Ser1260=) c.3642C= (p.Ser1214=) c.3717C= (p.Ser1239=) c.3579C= (p.Ser1193=) n.172C= n.253C= c.3675C= (p.Ser1225=) c.3639C= (p.Ser1213=) | |
1 | g.10345873C>G | CA338342332 | KIF1B | c.3780C>G (p.Ser1260Arg) c.3642C>G (p.Ser1214Arg) c.3717C>G (p.Ser1239Arg) c.3579C>G (p.Ser1193Arg) n.172C>G n.253C>G c.3675C>G (p.Ser1225Arg) c.3639C>G (p.Ser1213Arg) | |
1 | g.10345873C>T | CA581863 | KIF1B | c.3780C>T (p.Ser1260=) c.3642C>T (p.Ser1214=) c.3717C>T (p.Ser1239=) c.3579C>T (p.Ser1193=) n.172C>T n.253C>T c.3675C>T (p.Ser1225=) c.3639C>T (p.Ser1213=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10345874A>C | CA338342335 | KIF1B | c.3781A>C (p.Lys1261Gln) c.3643A>C (p.Lys1215Gln) c.3718A>C (p.Lys1240Gln) c.3580A>C (p.Lys1194Gln) n.173A>C n.254A>C c.3676A>C (p.Lys1226Gln) c.3640A>C (p.Lys1214Gln) | |
1 | g.10345874A>G | CA338342336 | KIF1B | c.3781A>G (p.Lys1261Glu) c.3643A>G (p.Lys1215Glu) c.3718A>G (p.Lys1240Glu) c.3580A>G (p.Lys1194Glu) n.173A>G n.254A>G c.3676A>G (p.Lys1226Glu) c.3640A>G (p.Lys1214Glu) | |
1 | g.10345874A>T | CA338342337 | KIF1B | c.3781A>T (p.Lys1261Ter) c.3643A>T (p.Lys1215Ter) c.3718A>T (p.Lys1240Ter) c.3580A>T (p.Lys1194Ter) n.173A>T n.254A>T c.3676A>T (p.Lys1226Ter) c.3640A>T (p.Lys1214Ter) | |
1 | g.10345875A>C | CA338342339 | KIF1B | c.3782A>C (p.Lys1261Thr) c.3644A>C (p.Lys1215Thr) c.3719A>C (p.Lys1240Thr) c.3581A>C (p.Lys1194Thr) n.174A>C n.255A>C c.3677A>C (p.Lys1226Thr) c.3641A>C (p.Lys1214Thr) | |
1 | g.10345875A>G | CA338342341 | KIF1B | c.3782A>G (p.Lys1261Arg) c.3644A>G (p.Lys1215Arg) c.3719A>G (p.Lys1240Arg) c.3581A>G (p.Lys1194Arg) n.174A>G n.255A>G c.3677A>G (p.Lys1226Arg) c.3641A>G (p.Lys1214Arg) | |
1 | g.10345875A>T | CA338342343 | KIF1B | c.3782A>T (p.Lys1261Ile) c.3644A>T (p.Lys1215Ile) c.3719A>T (p.Lys1240Ile) c.3581A>T (p.Lys1194Ile) n.174A>T n.255A>T c.3677A>T (p.Lys1226Ile) c.3641A>T (p.Lys1214Ile) | |
1 | g.10345876A>C | CA338342346 | KIF1B | c.3783A>C (p.Lys1261Asn) c.3645A>C (p.Lys1215Asn) c.3720A>C (p.Lys1240Asn) c.3582A>C (p.Lys1194Asn) n.175A>C n.256A>C c.3678A>C (p.Lys1226Asn) c.3642A>C (p.Lys1214Asn) | |
1 | g.10345876A>G | CA415884443 | KIF1B | c.3783A>G (p.Lys1261=) c.3645A>G (p.Lys1215=) c.3720A>G (p.Lys1240=) c.3582A>G (p.Lys1194=) n.175A>G n.256A>G c.3678A>G (p.Lys1226=) c.3642A>G (p.Lys1214=) | ClinVar |
1 | g.10345876A>T | CA338342348 | KIF1B | c.3783A>T (p.Lys1261Asn) c.3645A>T (p.Lys1215Asn) c.3720A>T (p.Lys1240Asn) c.3582A>T (p.Lys1194Asn) n.175A>T n.256A>T c.3678A>T (p.Lys1226Asn) c.3642A>T (p.Lys1214Asn) | |
1 | g.10345877_10345880del | CA2643183529 | KIF1B | c.3784_3787del (p.Thr1262AlafsTer6) c.3646_3649del (p.Thr1216AlafsTer6) c.3721_3724del (p.Thr1241AlafsTer6) c.3583_3586del (p.Thr1195AlafsTer6) n.176_179del n.257_260del c.3679_3682del (p.Thr1227AlafsTer6) c.3643_3646del (p.Thr1215AlafsTer6) | gnomAD v4 |
1 | g.10345877A>C | CA338342350 | KIF1B | c.3784A>C (p.Thr1262Pro) c.3646A>C (p.Thr1216Pro) c.3721A>C (p.Thr1241Pro) c.3583A>C (p.Thr1195Pro) n.176A>C n.257A>C c.3679A>C (p.Thr1227Pro) c.3643A>C (p.Thr1215Pro) | |
1 | g.10345877A>G | CA338342352 | KIF1B | c.3784A>G (p.Thr1262Ala) c.3646A>G (p.Thr1216Ala) c.3721A>G (p.Thr1241Ala) c.3583A>G (p.Thr1195Ala) n.176A>G n.257A>G c.3679A>G (p.Thr1227Ala) c.3643A>G (p.Thr1215Ala) | |
1 | g.10345877A>T | CA338342349 | KIF1B | c.3784A>T (p.Thr1262Ser) c.3646A>T (p.Thr1216Ser) c.3721A>T (p.Thr1241Ser) c.3583A>T (p.Thr1195Ser) n.176A>T n.257A>T c.3679A>T (p.Thr1227Ser) c.3643A>T (p.Thr1215Ser) | |
1 | g.10345878C>A | CA338342354 | KIF1B | c.3785C>A (p.Thr1262Asn) c.3647C>A (p.Thr1216Asn) c.3722C>A (p.Thr1241Asn) c.3584C>A (p.Thr1195Asn) n.177C>A n.258C>A c.3680C>A (p.Thr1227Asn) c.3644C>A (p.Thr1215Asn) | |
1 | g.10345878C>G | CA338342356 | KIF1B | c.3785C>G (p.Thr1262Ser) c.3647C>G (p.Thr1216Ser) c.3722C>G (p.Thr1241Ser) c.3584C>G (p.Thr1195Ser) n.177C>G n.258C>G c.3680C>G (p.Thr1227Ser) c.3644C>G (p.Thr1215Ser) | |
1 | g.10345878C>T | CA338342357 | KIF1B | c.3785C>T (p.Thr1262Ile) c.3647C>T (p.Thr1216Ile) c.3722C>T (p.Thr1241Ile) c.3584C>T (p.Thr1195Ile) n.177C>T n.258C>T c.3680C>T (p.Thr1227Ile) c.3644C>T (p.Thr1215Ile) | |
1 | g.10345879C>A | CA17845071 | KIF1B | c.3786C>A (p.Thr1262=) c.3648C>A (p.Thr1216=) c.3723C>A (p.Thr1241=) c.3585C>A (p.Thr1195=) n.178C>A n.259C>A c.3681C>A (p.Thr1227=) c.3645C>A (p.Thr1215=) | ClinVar dbSNP gnomAD v4 |
1 | g.10345879C= | CA1153146197 | KIF1B | c.3786C= (p.Thr1262=) c.3648C= (p.Thr1216=) c.3723C= (p.Thr1241=) c.3585C= (p.Thr1195=) n.178C= n.259C= c.3681C= (p.Thr1227=) c.3645C= (p.Thr1215=) | |
1 | g.10345879C>G | CA415884445 | KIF1B | c.3786C>G (p.Thr1262=) c.3648C>G (p.Thr1216=) c.3723C>G (p.Thr1241=) c.3585C>G (p.Thr1195=) n.178C>G n.259C>G c.3681C>G (p.Thr1227=) c.3645C>G (p.Thr1215=) | |
1 | g.10345879C>T | CA415884444 | KIF1B | c.3786C>T (p.Thr1262=) c.3648C>T (p.Thr1216=) c.3723C>T (p.Thr1241=) c.3585C>T (p.Thr1195=) n.178C>T n.259C>T c.3681C>T (p.Thr1227=) c.3645C>T (p.Thr1215=) | ClinVar |
1 | g.10345880A>C | CA338342359 | KIF1B | c.3787A>C (p.Ser1263Arg) c.3649A>C (p.Ser1217Arg) c.3724A>C (p.Ser1242Arg) c.3586A>C (p.Ser1196Arg) n.179A>C n.260A>C c.3682A>C (p.Ser1228Arg) c.3646A>C (p.Ser1216Arg) | |
1 | g.10345880A>G | CA338342360 | KIF1B | c.3787A>G (p.Ser1263Gly) c.3649A>G (p.Ser1217Gly) c.3724A>G (p.Ser1242Gly) c.3586A>G (p.Ser1196Gly) n.179A>G n.260A>G c.3682A>G (p.Ser1228Gly) c.3646A>G (p.Ser1216Gly) | |
1 | g.10345880A>T | CA338342361 | KIF1B | c.3787A>T (p.Ser1263Cys) c.3649A>T (p.Ser1217Cys) c.3724A>T (p.Ser1242Cys) c.3586A>T (p.Ser1196Cys) n.179A>T n.260A>T c.3682A>T (p.Ser1228Cys) c.3646A>T (p.Ser1216Cys) | |
1 | g.10345881G>A | CA338342364 | KIF1B | c.3788G>A (p.Ser1263Asn) c.3650G>A (p.Ser1217Asn) c.3725G>A (p.Ser1242Asn) c.3587G>A (p.Ser1196Asn) n.180G>A n.261G>A c.3683G>A (p.Ser1228Asn) c.3647G>A (p.Ser1216Asn) | ClinVar |
1 | g.10345881G>C | CA338342362 | KIF1B | c.3788G>C (p.Ser1263Thr) c.3650G>C (p.Ser1217Thr) c.3725G>C (p.Ser1242Thr) c.3587G>C (p.Ser1196Thr) n.180G>C n.261G>C c.3683G>C (p.Ser1228Thr) c.3647G>C (p.Ser1216Thr) | |
1 | g.10345881G= | CA1148230147 | KIF1B | c.3788G= (p.Ser1263=) c.3650G= (p.Ser1217=) c.3725G= (p.Ser1242=) c.3587G= (p.Ser1196=) n.180G= n.261G= c.3683G= (p.Ser1228=) c.3647G= (p.Ser1216=) | |
1 | g.10345881G>T | CA581864 | KIF1B | c.3788G>T (p.Ser1263Ile) c.3650G>T (p.Ser1217Ile) c.3725G>T (p.Ser1242Ile) c.3587G>T (p.Ser1196Ile) n.180G>T n.261G>T c.3683G>T (p.Ser1228Ile) c.3647G>T (p.Ser1216Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10345882C>A | CA338342365 | KIF1B | c.3789C>A (p.Ser1263Arg) c.3651C>A (p.Ser1217Arg) c.3726C>A (p.Ser1242Arg) c.3588C>A (p.Ser1196Arg) n.181C>A n.262C>A c.3684C>A (p.Ser1228Arg) c.3648C>A (p.Ser1216Arg) | |
1 | g.10345882C>G | CA338342366 | KIF1B | c.3789C>G (p.Ser1263Arg) c.3651C>G (p.Ser1217Arg) c.3726C>G (p.Ser1242Arg) c.3588C>G (p.Ser1196Arg) n.181C>G n.262C>G c.3684C>G (p.Ser1228Arg) c.3648C>G (p.Ser1216Arg) | |
1 | g.10345882C>T | CA415884446 | KIF1B | c.3789C>T (p.Ser1263=) c.3651C>T (p.Ser1217=) c.3726C>T (p.Ser1242=) c.3588C>T (p.Ser1196=) n.181C>T n.262C>T c.3684C>T (p.Ser1228=) c.3648C>T (p.Ser1216=) | |
1 | g.10345883C>A | CA338342368 | KIF1B | c.3790C>A (p.Leu1264Ile) c.3652C>A (p.Leu1218Ile) c.3727C>A (p.Leu1243Ile) c.3589C>A (p.Leu1197Ile) n.182C>A n.263C>A c.3685C>A (p.Leu1229Ile) c.3649C>A (p.Leu1217Ile) | |
1 | g.10345883C>G | CA338342369 | KIF1B | c.3790C>G (p.Leu1264Val) c.3652C>G (p.Leu1218Val) c.3727C>G (p.Leu1243Val) c.3589C>G (p.Leu1197Val) n.182C>G n.263C>G c.3685C>G (p.Leu1229Val) c.3649C>G (p.Leu1217Val) | |
1 | g.10345883C>T | CA338342370 | KIF1B | c.3790C>T (p.Leu1264Phe) c.3652C>T (p.Leu1218Phe) c.3727C>T (p.Leu1243Phe) c.3589C>T (p.Leu1197Phe) n.182C>T n.263C>T c.3685C>T (p.Leu1229Phe) c.3649C>T (p.Leu1217Phe) | |
1 | g.10345884T>A | CA338342373 | KIF1B | c.3791T>A (p.Leu1264His) c.3653T>A (p.Leu1218His) c.3728T>A (p.Leu1243His) c.3590T>A (p.Leu1197His) n.183T>A n.264T>A c.3686T>A (p.Leu1229His) c.3650T>A (p.Leu1217His) | |
1 | g.10345884T>C | CA338342375 | KIF1B | c.3791T>C (p.Leu1264Pro) c.3653T>C (p.Leu1218Pro) c.3728T>C (p.Leu1243Pro) c.3590T>C (p.Leu1197Pro) n.183T>C n.264T>C c.3686T>C (p.Leu1229Pro) c.3650T>C (p.Leu1217Pro) | |
1 | g.10345884T>G | CA338342374 | KIF1B | c.3791T>G (p.Leu1264Arg) c.3653T>G (p.Leu1218Arg) c.3728T>G (p.Leu1243Arg) c.3590T>G (p.Leu1197Arg) n.183T>G n.264T>G c.3686T>G (p.Leu1229Arg) c.3650T>G (p.Leu1217Arg) | gnomAD v4 |
1 | g.10345885T>A | CA415884447 | KIF1B | c.3792T>A (p.Leu1264=) c.3654T>A (p.Leu1218=) c.3729T>A (p.Leu1243=) c.3591T>A (p.Leu1197=) n.184T>A n.265T>A c.3687T>A (p.Leu1229=) c.3651T>A (p.Leu1217=) | |
1 | g.10345885T>C | CA415884448 | KIF1B | c.3792T>C (p.Leu1264=) c.3654T>C (p.Leu1218=) c.3729T>C (p.Leu1243=) c.3591T>C (p.Leu1197=) n.184T>C n.265T>C c.3687T>C (p.Leu1229=) c.3651T>C (p.Leu1217=) | |
1 | g.10345885T>G | CA415884449 | KIF1B | c.3792T>G (p.Leu1264=) c.3654T>G (p.Leu1218=) c.3729T>G (p.Leu1243=) c.3591T>G (p.Leu1197=) n.184T>G n.265T>G c.3687T>G (p.Leu1229=) c.3651T>G (p.Leu1217=) | |
1 | g.10345886G>A | CA338342377 | KIF1B | c.3793G>A (p.Gly1265Ser) c.3655G>A (p.Gly1219Ser) c.3730G>A (p.Gly1244Ser) c.3592G>A (p.Gly1198Ser) n.185G>A n.266G>A c.3688G>A (p.Gly1230Ser) c.3652G>A (p.Gly1218Ser) | |
1 | g.10345886G>C | CA338342378 | KIF1B | c.3793G>C (p.Gly1265Arg) c.3655G>C (p.Gly1219Arg) c.3730G>C (p.Gly1244Arg) c.3592G>C (p.Gly1198Arg) n.185G>C n.266G>C c.3688G>C (p.Gly1230Arg) c.3652G>C (p.Gly1218Arg) | |
1 | g.10345886G>T | CA338342380 | KIF1B | c.3793G>T (p.Gly1265Cys) c.3655G>T (p.Gly1219Cys) c.3730G>T (p.Gly1244Cys) c.3592G>T (p.Gly1198Cys) n.185G>T n.266G>T c.3688G>T (p.Gly1230Cys) c.3652G>T (p.Gly1218Cys) | |
1 | g.10345887G>A | CA338342382 | KIF1B | c.3794G>A (p.Gly1265Asp) c.3656G>A (p.Gly1219Asp) c.3731G>A (p.Gly1244Asp) c.3593G>A (p.Gly1198Asp) n.186G>A n.267G>A c.3689G>A (p.Gly1230Asp) c.3653G>A (p.Gly1218Asp) | |
1 | g.10345887G>C | CA338342384 | KIF1B | c.3794G>C (p.Gly1265Ala) c.3656G>C (p.Gly1219Ala) c.3731G>C (p.Gly1244Ala) c.3593G>C (p.Gly1198Ala) n.186G>C n.267G>C c.3689G>C (p.Gly1230Ala) c.3653G>C (p.Gly1218Ala) | |
1 | g.10345887G>T | CA338342385 | KIF1B | c.3794G>T (p.Gly1265Val) c.3656G>T (p.Gly1219Val) c.3731G>T (p.Gly1244Val) c.3593G>T (p.Gly1198Val) n.186G>T n.267G>T c.3689G>T (p.Gly1230Val) c.3653G>T (p.Gly1218Val) | |
1 | g.10345888C>A | CA415884450 | KIF1B | c.3795C>A (p.Gly1265=) c.3657C>A (p.Gly1219=) c.3732C>A (p.Gly1244=) c.3594C>A (p.Gly1198=) n.187C>A n.268C>A c.3690C>A (p.Gly1230=) c.3654C>A (p.Gly1218=) | |
1 | g.10345888C>G | CA415884451 | KIF1B | c.3795C>G (p.Gly1265=) c.3657C>G (p.Gly1219=) c.3732C>G (p.Gly1244=) c.3594C>G (p.Gly1198=) n.187C>G n.268C>G c.3690C>G (p.Gly1230=) c.3654C>G (p.Gly1218=) | |
1 | g.10345888C>T | CA415884452 | KIF1B | c.3795C>T (p.Gly1265=) c.3657C>T (p.Gly1219=) c.3732C>T (p.Gly1244=) c.3594C>T (p.Gly1198=) n.187C>T n.268C>T c.3690C>T (p.Gly1230=) c.3654C>T (p.Gly1218=) | |
1 | g.10345889C>A | CA338342387 | KIF1B | c.3796C>A (p.Gln1266Lys) c.3658C>A (p.Gln1220Lys) c.3733C>A (p.Gln1245Lys) c.3595C>A (p.Gln1199Lys) n.188C>A n.269C>A c.3691C>A (p.Gln1231Lys) c.3655C>A (p.Gln1219Lys) | |
1 | g.10345889C>G | CA338342389 | KIF1B | c.3796C>G (p.Gln1266Glu) c.3658C>G (p.Gln1220Glu) c.3733C>G (p.Gln1245Glu) c.3595C>G (p.Gln1199Glu) n.188C>G n.269C>G c.3691C>G (p.Gln1231Glu) c.3655C>G (p.Gln1219Glu) | ClinVar |
1 | g.10345889C>T | CA338342390 | KIF1B | c.3796C>T (p.Gln1266Ter) c.3658C>T (p.Gln1220Ter) c.3733C>T (p.Gln1245Ter) c.3595C>T (p.Gln1199Ter) n.188C>T n.269C>T c.3691C>T (p.Gln1231Ter) c.3655C>T (p.Gln1219Ter) | |
1 | g.10345890A= | CA1153146198 | KIF1B | c.3797A= (p.Gln1266=) c.3659A= (p.Gln1220=) c.3734A= (p.Gln1245=) c.3596A= (p.Gln1199=) n.189A= n.270A= c.3692A= (p.Gln1231=) c.3656A= (p.Gln1219=) | |
1 | g.10345890A>C | CA338342391 | KIF1B | c.3797A>C (p.Gln1266Pro) c.3659A>C (p.Gln1220Pro) c.3734A>C (p.Gln1245Pro) c.3596A>C (p.Gln1199Pro) n.189A>C n.270A>C c.3692A>C (p.Gln1231Pro) c.3656A>C (p.Gln1219Pro) | |
1 | g.10345890A>G | CA338342394 | KIF1B | c.3797A>G (p.Gln1266Arg) c.3659A>G (p.Gln1220Arg) c.3734A>G (p.Gln1245Arg) c.3596A>G (p.Gln1199Arg) n.189A>G n.270A>G c.3692A>G (p.Gln1231Arg) c.3656A>G (p.Gln1219Arg) | dbSNP gnomAD v4 |
1 | g.10345890A>T | CA338342395 | KIF1B | c.3797A>T (p.Gln1266Leu) c.3659A>T (p.Gln1220Leu) c.3734A>T (p.Gln1245Leu) c.3596A>T (p.Gln1199Leu) n.189A>T n.270A>T c.3692A>T (p.Gln1231Leu) c.3656A>T (p.Gln1219Leu) | |
1 | g.10345891G>A | CA415884453 | KIF1B | c.3798G>A (p.Gln1266=) c.3660G>A (p.Gln1220=) c.3735G>A (p.Gln1245=) c.3597G>A (p.Gln1199=) n.190G>A n.271G>A c.3693G>A (p.Gln1231=) c.3657G>A (p.Gln1219=) | ClinVar gnomAD v4 |
1 | g.10345891G>C | CA338342397 | KIF1B | c.3798G>C (p.Gln1266His) c.3660G>C (p.Gln1220His) c.3735G>C (p.Gln1245His) c.3597G>C (p.Gln1199His) n.190G>C n.271G>C c.3693G>C (p.Gln1231His) c.3657G>C (p.Gln1219His) | |
1 | g.10345891G>T | CA338342398 | KIF1B | c.3798G>T (p.Gln1266His) c.3660G>T (p.Gln1220His) c.3735G>T (p.Gln1245His) c.3597G>T (p.Gln1199His) n.190G>T n.271G>T c.3693G>T (p.Gln1231His) c.3657G>T (p.Gln1219His) | |
1 | g.10345892A>C | CA338342400 | KIF1B | c.3799A>C (p.Ser1267Arg) c.3661A>C (p.Ser1221Arg) c.3736A>C (p.Ser1246Arg) c.3598A>C (p.Ser1200Arg) n.191A>C n.272A>C c.3694A>C (p.Ser1232Arg) c.3658A>C (p.Ser1220Arg) | |
1 | g.10345892A>G | CA338342404 | KIF1B | c.3799A>G (p.Ser1267Gly) c.3661A>G (p.Ser1221Gly) c.3736A>G (p.Ser1246Gly) c.3598A>G (p.Ser1200Gly) n.191A>G n.272A>G c.3694A>G (p.Ser1232Gly) c.3658A>G (p.Ser1220Gly) | gnomAD v4 |
1 | g.10345892A>T | CA338342402 | KIF1B | c.3799A>T (p.Ser1267Cys) c.3661A>T (p.Ser1221Cys) c.3736A>T (p.Ser1246Cys) c.3598A>T (p.Ser1200Cys) n.191A>T n.272A>T c.3694A>T (p.Ser1232Cys) c.3658A>T (p.Ser1220Cys) | |
1 | g.10345893G>A | CA338342405 | KIF1B | c.3800G>A (p.Ser1267Asn) c.3662G>A (p.Ser1221Asn) c.3737G>A (p.Ser1246Asn) c.3599G>A (p.Ser1200Asn) n.192G>A n.273G>A c.3695G>A (p.Ser1232Asn) c.3659G>A (p.Ser1220Asn) | gnomAD v4 COSMIC |
1 | g.10345893G>C | CA338342408 | KIF1B | c.3800G>C (p.Ser1267Thr) c.3662G>C (p.Ser1221Thr) c.3737G>C (p.Ser1246Thr) c.3599G>C (p.Ser1200Thr) n.192G>C n.273G>C c.3695G>C (p.Ser1232Thr) c.3659G>C (p.Ser1220Thr) | |
1 | g.10345893G>T | CA338342410 | KIF1B | c.3800G>T (p.Ser1267Ile) c.3662G>T (p.Ser1221Ile) c.3737G>T (p.Ser1246Ile) c.3599G>T (p.Ser1200Ile) n.192G>T n.273G>T c.3695G>T (p.Ser1232Ile) c.3659G>T (p.Ser1220Ile) | |
1 | g.10345894C>A | CA338342412 | KIF1B | c.3801C>A (p.Ser1267Arg) c.3663C>A (p.Ser1221Arg) c.3738C>A (p.Ser1246Arg) c.3600C>A (p.Ser1200Arg) n.193C>A n.274C>A c.3696C>A (p.Ser1232Arg) c.3660C>A (p.Ser1220Arg) | |
1 | g.10345894C>G | CA338342414 | KIF1B | c.3801C>G (p.Ser1267Arg) c.3663C>G (p.Ser1221Arg) c.3738C>G (p.Ser1246Arg) c.3600C>G (p.Ser1200Arg) n.193C>G n.274C>G c.3696C>G (p.Ser1232Arg) c.3660C>G (p.Ser1220Arg) | |
1 | g.10345894C>T | CA415884454 | KIF1B | c.3801C>T (p.Ser1267=) c.3663C>T (p.Ser1221=) c.3738C>T (p.Ser1246=) c.3600C>T (p.Ser1200=) n.193C>T n.274C>T c.3696C>T (p.Ser1232=) c.3660C>T (p.Ser1220=) | |
1 | g.10345895A= | CA1153146199 | KIF1B | c.3802A= (p.Met1268=) c.3664A= (p.Met1222=) c.3739A= (p.Met1247=) c.3601A= (p.Met1201=) n.194A= n.275A= c.3697A= (p.Met1233=) c.3661A= (p.Met1221=) | |
1 | g.10345895A>C | CA338342416 | KIF1B | c.3802A>C (p.Met1268Leu) c.3664A>C (p.Met1222Leu) c.3739A>C (p.Met1247Leu) c.3601A>C (p.Met1201Leu) n.194A>C n.275A>C c.3697A>C (p.Met1233Leu) c.3661A>C (p.Met1221Leu) | |
1 | g.10345895A>G | CA338342422 | KIF1B | c.3802A>G (p.Met1268Val) c.3664A>G (p.Met1222Val) c.3739A>G (p.Met1247Val) c.3601A>G (p.Met1201Val) n.194A>G n.275A>G c.3697A>G (p.Met1233Val) c.3661A>G (p.Met1221Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10345895A>T | CA338342423 | KIF1B | c.3802A>T (p.Met1268Leu) c.3664A>T (p.Met1222Leu) c.3739A>T (p.Met1247Leu) c.3601A>T (p.Met1201Leu) n.194A>T n.275A>T c.3697A>T (p.Met1233Leu) c.3661A>T (p.Met1221Leu) | |
1 | g.10345896T>A | CA338342425 | KIF1B | c.3803T>A (p.Met1268Lys) c.3665T>A (p.Met1222Lys) c.3740T>A (p.Met1247Lys) c.3602T>A (p.Met1201Lys) n.195T>A n.276T>A c.3698T>A (p.Met1233Lys) c.3662T>A (p.Met1221Lys) | |
1 | g.10345896T>C | CA338342427 | KIF1B | c.3803T>C (p.Met1268Thr) c.3665T>C (p.Met1222Thr) c.3740T>C (p.Met1247Thr) c.3602T>C (p.Met1201Thr) n.195T>C n.276T>C c.3698T>C (p.Met1233Thr) c.3662T>C (p.Met1221Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.10345896T>G | CA338342428 | KIF1B | c.3803T>G (p.Met1268Arg) c.3665T>G (p.Met1222Arg) c.3740T>G (p.Met1247Arg) c.3602T>G (p.Met1201Arg) n.195T>G n.276T>G c.3698T>G (p.Met1233Arg) c.3662T>G (p.Met1221Arg) | |
1 | g.10345896T= | CA1153146200 | KIF1B | c.3803T= (p.Met1268=) c.3665T= (p.Met1222=) c.3740T= (p.Met1247=) c.3602T= (p.Met1201=) n.195T= n.276T= c.3698T= (p.Met1233=) c.3662T= (p.Met1221=) | |
1 | g.10345897G>A | CA338342433 | KIF1B | c.3804G>A (p.Met1268Ile) c.3666G>A (p.Met1222Ile) c.3741G>A (p.Met1247Ile) c.3603G>A (p.Met1201Ile) n.196G>A n.277G>A c.3699G>A (p.Met1233Ile) c.3663G>A (p.Met1221Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10345897G>C | CA338342430 | KIF1B | c.3804G>C (p.Met1268Ile) c.3666G>C (p.Met1222Ile) c.3741G>C (p.Met1247Ile) c.3603G>C (p.Met1201Ile) n.196G>C n.277G>C c.3699G>C (p.Met1233Ile) c.3663G>C (p.Met1221Ile) | |
1 | g.10345897G= | CA1153146201 | KIF1B | c.3804G= (p.Met1268=) c.3666G= (p.Met1222=) c.3741G= (p.Met1247=) c.3603G= (p.Met1201=) n.196G= n.277G= c.3699G= (p.Met1233=) c.3663G= (p.Met1221=) | |
1 | g.10345897G>T | CA338342431 | KIF1B | c.3804G>T (p.Met1268Ile) c.3666G>T (p.Met1222Ile) c.3741G>T (p.Met1247Ile) c.3603G>T (p.Met1201Ile) n.196G>T n.277G>T c.3699G>T (p.Met1233Ile) c.3663G>T (p.Met1221Ile) | gnomAD v4 |
1 | g.10345898A= | CA1153146202 | KIF1B | c.3805A= (p.Ser1269=) c.3667A= (p.Ser1223=) c.3742A= (p.Ser1248=) c.3604A= (p.Ser1202=) n.197A= n.278A= c.3700A= (p.Ser1234=) c.3664A= (p.Ser1222=) | |
1 | g.10345898A>C | CA338342434 | KIF1B | c.3805A>C (p.Ser1269Arg) c.3667A>C (p.Ser1223Arg) c.3742A>C (p.Ser1248Arg) c.3604A>C (p.Ser1202Arg) n.197A>C n.278A>C c.3700A>C (p.Ser1234Arg) c.3664A>C (p.Ser1222Arg) | |
1 | g.10345898A>G | CA338342435 | KIF1B | c.3805A>G (p.Ser1269Gly) c.3667A>G (p.Ser1223Gly) c.3742A>G (p.Ser1248Gly) c.3604A>G (p.Ser1202Gly) n.197A>G n.278A>G c.3700A>G (p.Ser1234Gly) c.3664A>G (p.Ser1222Gly) | ClinVar dbSNP gnomAD v2 |
1 | g.10345898A>T | CA338342436 | KIF1B | c.3805A>T (p.Ser1269Cys) c.3667A>T (p.Ser1223Cys) c.3742A>T (p.Ser1248Cys) c.3604A>T (p.Ser1202Cys) n.197A>T n.278A>T c.3700A>T (p.Ser1234Cys) c.3664A>T (p.Ser1222Cys) | |
1 | g.10345899G>A | CA338342438 | KIF1B | c.3806G>A (p.Ser1269Asn) c.3668G>A (p.Ser1223Asn) c.3743G>A (p.Ser1248Asn) c.3605G>A (p.Ser1202Asn) n.198G>A n.279G>A c.3701G>A (p.Ser1234Asn) c.3665G>A (p.Ser1222Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10345899G>C | CA338342440 | KIF1B | c.3806G>C (p.Ser1269Thr) c.3668G>C (p.Ser1223Thr) c.3743G>C (p.Ser1248Thr) c.3605G>C (p.Ser1202Thr) n.198G>C n.279G>C c.3701G>C (p.Ser1234Thr) c.3665G>C (p.Ser1222Thr) | |
1 | g.10345899G= | CA1153146203 | KIF1B | c.3806G= (p.Ser1269=) c.3668G= (p.Ser1223=) c.3743G= (p.Ser1248=) c.3605G= (p.Ser1202=) n.198G= n.279G= c.3701G= (p.Ser1234=) c.3665G= (p.Ser1222=) | |
1 | g.10345899G>T | CA338342441 | KIF1B | c.3806G>T (p.Ser1269Ile) c.3668G>T (p.Ser1223Ile) c.3743G>T (p.Ser1248Ile) c.3605G>T (p.Ser1202Ile) n.198G>T n.279G>T c.3701G>T (p.Ser1234Ile) c.3665G>T (p.Ser1222Ile) | |
1 | g.10345900C>A | CA338342443 | KIF1B | c.3807C>A (p.Ser1269Arg) c.3669C>A (p.Ser1223Arg) c.3744C>A (p.Ser1248Arg) c.3606C>A (p.Ser1202Arg) n.199C>A n.280C>A c.3702C>A (p.Ser1234Arg) c.3666C>A (p.Ser1222Arg) | |
1 | g.10345900C>G | CA338342444 | KIF1B | c.3807C>G (p.Ser1269Arg) c.3669C>G (p.Ser1223Arg) c.3744C>G (p.Ser1248Arg) c.3606C>G (p.Ser1202Arg) n.199C>G n.280C>G c.3702C>G (p.Ser1234Arg) c.3666C>G (p.Ser1222Arg) | |
1 | g.10345900C>T | CA415884455 | KIF1B | c.3807C>T (p.Ser1269=) c.3669C>T (p.Ser1223=) c.3744C>T (p.Ser1248=) c.3606C>T (p.Ser1202=) n.199C>T n.280C>T c.3702C>T (p.Ser1234=) c.3666C>T (p.Ser1222=) | |
1 | g.10345901A= | CA1153146204 | KIF1B | c.3808A= (p.Lys1270=) c.3670A= (p.Lys1224=) c.3745A= (p.Lys1249=) c.3607A= (p.Lys1203=) n.200A= n.281A= c.3703A= (p.Lys1235=) c.3667A= (p.Lys1223=) | |
1 | g.10345901A>C | CA338342445 | KIF1B | c.3808A>C (p.Lys1270Gln) c.3670A>C (p.Lys1224Gln) c.3745A>C (p.Lys1249Gln) c.3607A>C (p.Lys1203Gln) n.200A>C n.281A>C c.3703A>C (p.Lys1235Gln) c.3667A>C (p.Lys1223Gln) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10345901A>G | CA338342447 | KIF1B | c.3808A>G (p.Lys1270Glu) c.3670A>G (p.Lys1224Glu) c.3745A>G (p.Lys1249Glu) c.3607A>G (p.Lys1203Glu) n.200A>G n.281A>G c.3703A>G (p.Lys1235Glu) c.3667A>G (p.Lys1223Glu) | |
1 | g.10345901A>T | CA338342449 | KIF1B | c.3808A>T (p.Lys1270Ter) c.3670A>T (p.Lys1224Ter) c.3745A>T (p.Lys1249Ter) c.3607A>T (p.Lys1203Ter) n.200A>T n.281A>T c.3703A>T (p.Lys1235Ter) c.3667A>T (p.Lys1223Ter) | |
1 | g.10345902A= | CA1153146205 | KIF1B | c.3809A= (p.Lys1270=) c.3671A= (p.Lys1224=) c.3746A= (p.Lys1249=) c.3608A= (p.Lys1203=) n.201A= n.282A= c.3704A= (p.Lys1235=) c.3668A= (p.Lys1223=) | |
1 | g.10345902A>C | CA338342456 | KIF1B | c.3809A>C (p.Lys1270Thr) c.3671A>C (p.Lys1224Thr) c.3746A>C (p.Lys1249Thr) c.3608A>C (p.Lys1203Thr) n.201A>C n.282A>C c.3704A>C (p.Lys1235Thr) c.3668A>C (p.Lys1223Thr) | gnomAD v4 COSMIC |
1 | g.10345902A>G | CA338342457 | KIF1B | c.3809A>G (p.Lys1270Arg) c.3671A>G (p.Lys1224Arg) c.3746A>G (p.Lys1249Arg) c.3608A>G (p.Lys1203Arg) n.201A>G n.282A>G c.3704A>G (p.Lys1235Arg) c.3668A>G (p.Lys1223Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10345902A>T | CA338342455 | KIF1B | c.3809A>T (p.Lys1270Met) c.3671A>T (p.Lys1224Met) c.3746A>T (p.Lys1249Met) c.3608A>T (p.Lys1203Met) n.201A>T n.282A>T c.3704A>T (p.Lys1235Met) c.3668A>T (p.Lys1223Met) | |
1 | g.10345903G>A | CA415884456 | KIF1B | c.3810G>A (p.Lys1270=) c.3672G>A (p.Lys1224=) c.3747G>A (p.Lys1249=) c.3609G>A (p.Lys1203=) n.202G>A n.283G>A c.3705G>A (p.Lys1235=) c.3669G>A (p.Lys1223=) | ClinVar |
1 | g.10345903G>C | CA338342459 | KIF1B | c.3810G>C (p.Lys1270Asn) c.3672G>C (p.Lys1224Asn) c.3747G>C (p.Lys1249Asn) c.3609G>C (p.Lys1203Asn) n.202G>C n.283G>C c.3705G>C (p.Lys1235Asn) c.3669G>C (p.Lys1223Asn) | |
1 | g.10345903G>T | CA338342461 | KIF1B | c.3810G>T (p.Lys1270Asn) c.3672G>T (p.Lys1224Asn) c.3747G>T (p.Lys1249Asn) c.3609G>T (p.Lys1203Asn) n.202G>T n.283G>T c.3705G>T (p.Lys1235Asn) c.3669G>T (p.Lys1223Asn) | |
1 | g.10345904T>A | CA338342463 | KIF1B | c.3811T>A (p.Tyr1271Asn) c.3673T>A (p.Tyr1225Asn) c.3748T>A (p.Tyr1250Asn) c.3610T>A (p.Tyr1204Asn) n.203T>A n.284T>A c.3706T>A (p.Tyr1236Asn) c.3670T>A (p.Tyr1224Asn) | |
1 | g.10345904T>C | CA338342465 | KIF1B | c.3811T>C (p.Tyr1271His) c.3673T>C (p.Tyr1225His) c.3748T>C (p.Tyr1250His) c.3610T>C (p.Tyr1204His) n.203T>C n.284T>C c.3706T>C (p.Tyr1236His) c.3670T>C (p.Tyr1224His) | |
1 | g.10345904T>G | CA338342467 | KIF1B | c.3811T>G (p.Tyr1271Asp) c.3673T>G (p.Tyr1225Asp) c.3748T>G (p.Tyr1250Asp) c.3610T>G (p.Tyr1204Asp) n.203T>G n.284T>G c.3706T>G (p.Tyr1236Asp) c.3670T>G (p.Tyr1224Asp) | |
1 | g.10345905A>C | CA338342468 | KIF1B | c.3812A>C (p.Tyr1271Ser) c.3674A>C (p.Tyr1225Ser) c.3749A>C (p.Tyr1250Ser) c.3611A>C (p.Tyr1204Ser) n.204A>C n.285A>C c.3707A>C (p.Tyr1236Ser) c.3671A>C (p.Tyr1224Ser) | |
1 | g.10345905A>G | CA338342471 | KIF1B | c.3812A>G (p.Tyr1271Cys) c.3674A>G (p.Tyr1225Cys) c.3749A>G (p.Tyr1250Cys) c.3611A>G (p.Tyr1204Cys) n.204A>G n.285A>G c.3707A>G (p.Tyr1236Cys) c.3671A>G (p.Tyr1224Cys) | ClinVar gnomAD v4 |
1 | g.10345905A>T | CA338342473 | KIF1B | c.3812A>T (p.Tyr1271Phe) c.3674A>T (p.Tyr1225Phe) c.3749A>T (p.Tyr1250Phe) c.3611A>T (p.Tyr1204Phe) n.204A>T n.285A>T c.3707A>T (p.Tyr1236Phe) c.3671A>T (p.Tyr1224Phe) | |
1 | g.10345906T>A | CA338342474 | KIF1B | c.3813T>A (p.Tyr1271Ter) c.3675T>A (p.Tyr1225Ter) c.3750T>A (p.Tyr1250Ter) c.3612T>A (p.Tyr1204Ter) n.205T>A n.286T>A c.3708T>A (p.Tyr1236Ter) c.3672T>A (p.Tyr1224Ter) | |
1 | g.10345906T>C | CA415884457 | KIF1B | c.3813T>C (p.Tyr1271=) c.3675T>C (p.Tyr1225=) c.3750T>C (p.Tyr1250=) c.3612T>C (p.Tyr1204=) n.205T>C n.286T>C c.3708T>C (p.Tyr1236=) c.3672T>C (p.Tyr1224=) | |
1 | g.10345906T>G | CA338342475 | KIF1B | c.3813T>G (p.Tyr1271Ter) c.3675T>G (p.Tyr1225Ter) c.3750T>G (p.Tyr1250Ter) c.3612T>G (p.Tyr1204Ter) n.205T>G n.286T>G c.3708T>G (p.Tyr1236Ter) c.3672T>G (p.Tyr1224Ter) | |
1 | g.10345907G>A | CA338342477 | KIF1B | c.3814G>A (p.Asp1272Asn) c.3676G>A (p.Asp1226Asn) c.3751G>A (p.Asp1251Asn) c.3613G>A (p.Asp1205Asn) n.206G>A n.287G>A c.3709G>A (p.Asp1237Asn) c.3673G>A (p.Asp1225Asn) | gnomAD v4 |
1 | g.10345907G>C | CA338342478 | KIF1B | c.3814G>C (p.Asp1272His) c.3676G>C (p.Asp1226His) c.3751G>C (p.Asp1251His) c.3613G>C (p.Asp1205His) n.206G>C n.287G>C c.3709G>C (p.Asp1237His) c.3673G>C (p.Asp1225His) | |
1 | g.10345907G>T | CA338342480 | KIF1B | c.3814G>T (p.Asp1272Tyr) c.3676G>T (p.Asp1226Tyr) c.3751G>T (p.Asp1251Tyr) c.3613G>T (p.Asp1205Tyr) n.206G>T n.287G>T c.3709G>T (p.Asp1237Tyr) c.3673G>T (p.Asp1225Tyr) | gnomAD v4 |
1 | g.10345908A>C | CA338342484 | KIF1B | c.3815A>C (p.Asp1272Ala) c.3677A>C (p.Asp1226Ala) c.3752A>C (p.Asp1251Ala) c.3614A>C (p.Asp1205Ala) n.207A>C n.288A>C c.3710A>C (p.Asp1237Ala) c.3674A>C (p.Asp1225Ala) | |
1 | g.10345908A>G | CA338342483 | KIF1B | c.3815A>G (p.Asp1272Gly) c.3677A>G (p.Asp1226Gly) c.3752A>G (p.Asp1251Gly) c.3614A>G (p.Asp1205Gly) n.207A>G n.288A>G c.3710A>G (p.Asp1237Gly) c.3674A>G (p.Asp1225Gly) | |
1 | g.10345908A>T | CA338342482 | KIF1B | c.3815A>T (p.Asp1272Val) c.3677A>T (p.Asp1226Val) c.3752A>T (p.Asp1251Val) c.3614A>T (p.Asp1205Val) n.207A>T n.288A>T c.3710A>T (p.Asp1237Val) c.3674A>T (p.Asp1225Val) | |
1 | g.10345909C>A | CA338342486 | KIF1B | c.3816C>A (p.Asp1272Glu) c.3678C>A (p.Asp1226Glu) c.3753C>A (p.Asp1251Glu) c.3615C>A (p.Asp1205Glu) n.208C>A n.289C>A c.3711C>A (p.Asp1237Glu) c.3675C>A (p.Asp1225Glu) | |
1 | g.10345909C>G | CA338342488 | KIF1B | c.3816C>G (p.Asp1272Glu) c.3678C>G (p.Asp1226Glu) c.3753C>G (p.Asp1251Glu) c.3615C>G (p.Asp1205Glu) n.208C>G n.289C>G c.3711C>G (p.Asp1237Glu) c.3675C>G (p.Asp1225Glu) | gnomAD v4 |
1 | g.10345909C>T | CA415884458 | KIF1B | c.3816C>T (p.Asp1272=) c.3678C>T (p.Asp1226=) c.3753C>T (p.Asp1251=) c.3615C>T (p.Asp1205=) n.208C>T n.289C>T c.3711C>T (p.Asp1237=) c.3675C>T (p.Asp1225=) | |
1 | g.10345912_10345914del | CA2643183531 | KIF1B | c.3819_3821del (p.Leu1274del) c.3681_3683del (p.Leu1228del) c.3756_3758del (p.Leu1253del) c.3618_3620del (p.Leu1207del) n.211_213del n.292_294del c.3714_3716del (p.Leu1239del) c.3678_3680del (p.Leu1227del) | gnomAD v4 |
1 | g.10345910C>A | CA338342490 | KIF1B | c.3817C>A (p.Leu1273Ile) c.3679C>A (p.Leu1227Ile) c.3754C>A (p.Leu1252Ile) c.3616C>A (p.Leu1206Ile) n.209C>A n.290C>A c.3712C>A (p.Leu1238Ile) c.3676C>A (p.Leu1226Ile) | |
1 | g.10345910C= | CA1143650354 | KIF1B | c.3817C= (p.Leu1273=) c.3679C= (p.Leu1227=) c.3754C= (p.Leu1252=) c.3616C= (p.Leu1206=) n.209C= n.290C= c.3712C= (p.Leu1238=) c.3676C= (p.Leu1226=) | |
1 | g.10345910C>G | CA338342491 | KIF1B | c.3817C>G (p.Leu1273Val) c.3679C>G (p.Leu1227Val) c.3754C>G (p.Leu1252Val) c.3616C>G (p.Leu1206Val) n.209C>G n.290C>G c.3712C>G (p.Leu1238Val) c.3676C>G (p.Leu1226Val) | gnomAD v4 |
1 | g.10345910C>T | CA581865 | KIF1B | c.3817C>T (p.Leu1273Phe) c.3679C>T (p.Leu1227Phe) c.3754C>T (p.Leu1252Phe) c.3616C>T (p.Leu1206Phe) n.209C>T n.290C>T c.3712C>T (p.Leu1238Phe) c.3676C>T (p.Leu1226Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10345911T>A | CA338342494 | KIF1B | c.3818T>A (p.Leu1273His) c.3680T>A (p.Leu1227His) c.3755T>A (p.Leu1252His) c.3617T>A (p.Leu1206His) n.210T>A n.291T>A c.3713T>A (p.Leu1238His) c.3677T>A (p.Leu1226His) | ClinVar dbSNP |
1 | g.10345911T>C | CA338342496 | KIF1B | c.3818T>C (p.Leu1273Pro) c.3680T>C (p.Leu1227Pro) c.3755T>C (p.Leu1252Pro) c.3617T>C (p.Leu1206Pro) n.210T>C n.291T>C c.3713T>C (p.Leu1238Pro) c.3677T>C (p.Leu1226Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10345911T>G | CA338342497 | KIF1B | c.3818T>G (p.Leu1273Arg) c.3680T>G (p.Leu1227Arg) c.3755T>G (p.Leu1252Arg) c.3617T>G (p.Leu1206Arg) n.210T>G n.291T>G c.3713T>G (p.Leu1238Arg) c.3677T>G (p.Leu1226Arg) | |
1 | g.10345911T= | CA1153146206 | KIF1B | c.3818T= (p.Leu1273=) c.3680T= (p.Leu1227=) c.3755T= (p.Leu1252=) c.3617T= (p.Leu1206=) n.210T= n.291T= c.3713T= (p.Leu1238=) c.3677T= (p.Leu1226=) | |
1 | g.10345912C>A | CA415884459 | KIF1B | c.3819C>A (p.Leu1273=) c.3681C>A (p.Leu1227=) c.3756C>A (p.Leu1252=) c.3618C>A (p.Leu1206=) n.211C>A n.292C>A c.3714C>A (p.Leu1238=) c.3678C>A (p.Leu1226=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.10345912C= | CA1153146207 | KIF1B | c.3819C= (p.Leu1273=) c.3681C= (p.Leu1227=) c.3756C= (p.Leu1252=) c.3618C= (p.Leu1206=) n.211C= n.292C= c.3714C= (p.Leu1238=) c.3678C= (p.Leu1226=) | |
1 | g.10345912C>G | CA415884460 | KIF1B | c.3819C>G (p.Leu1273=) c.3681C>G (p.Leu1227=) c.3756C>G (p.Leu1252=) c.3618C>G (p.Leu1206=) n.211C>G n.292C>G c.3714C>G (p.Leu1238=) c.3678C>G (p.Leu1226=) | |
1 | g.10345912C>T | CA415884461 | KIF1B | c.3819C>T (p.Leu1273=) c.3681C>T (p.Leu1227=) c.3756C>T (p.Leu1252=) c.3618C>T (p.Leu1206=) n.211C>T n.292C>T c.3714C>T (p.Leu1238=) c.3678C>T (p.Leu1226=) | COSMIC |
1 | g.10345913C>A | CA338342499 | KIF1B | c.3820C>A (p.Leu1274Met) c.3682C>A (p.Leu1228Met) c.3757C>A (p.Leu1253Met) c.3619C>A (p.Leu1207Met) n.212C>A n.293C>A c.3715C>A (p.Leu1239Met) c.3679C>A (p.Leu1227Met) | |
1 | g.10345913C= | CA1153146208 | KIF1B | c.3820C= (p.Leu1274=) c.3682C= (p.Leu1228=) c.3757C= (p.Leu1253=) c.3619C= (p.Leu1207=) n.212C= n.293C= c.3715C= (p.Leu1239=) c.3679C= (p.Leu1227=) | |
1 | g.10345913C>G | CA338342500 | KIF1B | c.3820C>G (p.Leu1274Val) c.3682C>G (p.Leu1228Val) c.3757C>G (p.Leu1253Val) c.3619C>G (p.Leu1207Val) n.212C>G n.293C>G c.3715C>G (p.Leu1239Val) c.3679C>G (p.Leu1227Val) | gnomAD v4 |
1 | g.10345913C>T | CA415884462 | KIF1B | c.3820C>T (p.Leu1274=) c.3682C>T (p.Leu1228=) c.3757C>T (p.Leu1253=) c.3619C>T (p.Leu1207=) n.212C>T n.293C>T c.3715C>T (p.Leu1239=) c.3679C>T (p.Leu1227=) | dbSNP gnomAD v4 |
1 | g.10345914T>A | CA338342502 | KIF1B | c.3821T>A (p.Leu1274Gln) c.3683T>A (p.Leu1228Gln) c.3758T>A (p.Leu1253Gln) c.3620T>A (p.Leu1207Gln) n.213T>A n.294T>A c.3716T>A (p.Leu1239Gln) c.3680T>A (p.Leu1227Gln) | |
1 | g.10345914T>C | CA338342504 | KIF1B | c.3821T>C (p.Leu1274Pro) c.3683T>C (p.Leu1228Pro) c.3758T>C (p.Leu1253Pro) c.3620T>C (p.Leu1207Pro) n.213T>C n.294T>C c.3716T>C (p.Leu1239Pro) c.3680T>C (p.Leu1227Pro) | |
1 | g.10345914T>G | CA338342506 | KIF1B | c.3821T>G (p.Leu1274Arg) c.3683T>G (p.Leu1228Arg) c.3758T>G (p.Leu1253Arg) c.3620T>G (p.Leu1207Arg) n.213T>G n.294T>G c.3716T>G (p.Leu1239Arg) c.3680T>G (p.Leu1227Arg) | |
1 | g.10345915G>A | CA415884463 | KIF1B | c.3822G>A (p.Leu1274=) c.3684G>A (p.Leu1228=) c.3759G>A (p.Leu1253=) c.3621G>A (p.Leu1207=) n.214G>A n.295G>A c.3717G>A (p.Leu1239=) c.3681G>A (p.Leu1227=) | |
1 | g.10345915G>C | CA415884464 | KIF1B | c.3822G>C (p.Leu1274=) c.3684G>C (p.Leu1228=) c.3759G>C (p.Leu1253=) c.3621G>C (p.Leu1207=) n.214G>C n.295G>C c.3717G>C (p.Leu1239=) c.3681G>C (p.Leu1227=) | |
1 | g.10345915G>T | CA415884465 | KIF1B | c.3822G>T (p.Leu1274=) c.3684G>T (p.Leu1228=) c.3759G>T (p.Leu1253=) c.3621G>T (p.Leu1207=) n.214G>T n.295G>T c.3717G>T (p.Leu1239=) c.3681G>T (p.Leu1227=) | |
1 | g.10345916G>A | CA338342511 | KIF1B | c.3823G>A (p.Val1275Ile) c.3685G>A (p.Val1229Ile) c.3760G>A (p.Val1254Ile) c.3622G>A (p.Val1208Ile) n.215G>A n.296G>A c.3718G>A (p.Val1240Ile) c.3682G>A (p.Val1228Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.10345916G>C | CA338342510 | KIF1B | c.3823G>C (p.Val1275Leu) c.3685G>C (p.Val1229Leu) c.3760G>C (p.Val1254Leu) c.3622G>C (p.Val1208Leu) n.215G>C n.296G>C c.3718G>C (p.Val1240Leu) c.3682G>C (p.Val1228Leu) | |
1 | g.10345916G= | CA1153146209 | KIF1B | c.3823G= (p.Val1275=) c.3685G= (p.Val1229=) c.3760G= (p.Val1254=) c.3622G= (p.Val1208=) n.215G= n.296G= c.3718G= (p.Val1240=) c.3682G= (p.Val1228=) | |
1 | g.10345916G>T | CA338342508 | KIF1B | c.3823G>T (p.Val1275Phe) c.3685G>T (p.Val1229Phe) c.3760G>T (p.Val1254Phe) c.3622G>T (p.Val1208Phe) n.215G>T n.296G>T c.3718G>T (p.Val1240Phe) c.3682G>T (p.Val1228Phe) | |
1 | g.10345917T>A | CA338342513 | KIF1B | c.3824T>A (p.Val1275Asp) c.3686T>A (p.Val1229Asp) c.3761T>A (p.Val1254Asp) c.3623T>A (p.Val1208Asp) n.216T>A n.297T>A c.3719T>A (p.Val1240Asp) c.3683T>A (p.Val1228Asp) | |
1 | g.10345917T>C | CA338342512 | KIF1B | c.3824T>C (p.Val1275Ala) c.3686T>C (p.Val1229Ala) c.3761T>C (p.Val1254Ala) c.3623T>C (p.Val1208Ala) n.216T>C n.297T>C c.3719T>C (p.Val1240Ala) c.3683T>C (p.Val1228Ala) | COSMIC |
1 | g.10345917T>G | CA338342514 | KIF1B | c.3824T>G (p.Val1275Gly) c.3686T>G (p.Val1229Gly) c.3761T>G (p.Val1254Gly) c.3623T>G (p.Val1208Gly) n.216T>G n.297T>G c.3719T>G (p.Val1240Gly) c.3683T>G (p.Val1228Gly) | |
1 | g.10345918T>A | CA415884466 | KIF1B | c.3825T>A (p.Val1275=) c.3687T>A (p.Val1229=) c.3762T>A (p.Val1254=) c.3624T>A (p.Val1208=) n.217T>A n.298T>A c.3720T>A (p.Val1240=) c.3684T>A (p.Val1228=) | |
1 | g.10345918T>C | CA415884467 | KIF1B | c.3825T>C (p.Val1275=) c.3687T>C (p.Val1229=) c.3762T>C (p.Val1254=) c.3624T>C (p.Val1208=) n.217T>C n.298T>C c.3720T>C (p.Val1240=) c.3684T>C (p.Val1228=) | ClinVar |
1 | g.10345918T>G | CA415884468 | KIF1B | c.3825T>G (p.Val1275=) c.3687T>G (p.Val1229=) c.3762T>G (p.Val1254=) c.3624T>G (p.Val1208=) n.217T>G n.298T>G c.3720T>G (p.Val1240=) c.3684T>G (p.Val1228=) | |
1 | g.10345919T>A | CA338342515 | KIF1B | c.3826T>A (p.Trp1276Arg) c.3688T>A (p.Trp1230Arg) c.3763T>A (p.Trp1255Arg) c.3625T>A (p.Trp1209Arg) n.218T>A n.299T>A c.3721T>A (p.Trp1241Arg) c.3685T>A (p.Trp1229Arg) | |
1 | g.10345919T>C | CA338342517 | KIF1B | c.3826T>C (p.Trp1276Arg) c.3688T>C (p.Trp1230Arg) c.3763T>C (p.Trp1255Arg) c.3625T>C (p.Trp1209Arg) n.218T>C n.299T>C c.3721T>C (p.Trp1241Arg) c.3685T>C (p.Trp1229Arg) | |
1 | g.10345919T>G | CA338342516 | KIF1B | c.3826T>G (p.Trp1276Gly) c.3688T>G (p.Trp1230Gly) c.3763T>G (p.Trp1255Gly) c.3625T>G (p.Trp1209Gly) n.218T>G n.299T>G c.3721T>G (p.Trp1241Gly) c.3685T>G (p.Trp1229Gly) | |
1 | g.10345920G>A | CA338342518 | KIF1B | c.3827G>A (p.Trp1276Ter) c.3689G>A (p.Trp1230Ter) c.3764G>A (p.Trp1255Ter) c.3626G>A (p.Trp1209Ter) n.219G>A n.300G>A c.3722G>A (p.Trp1241Ter) c.3686G>A (p.Trp1229Ter) | |
1 | g.10345920G>C | CA338342519 | KIF1B | c.3827G>C (p.Trp1276Ser) c.3689G>C (p.Trp1230Ser) c.3764G>C (p.Trp1255Ser) c.3626G>C (p.Trp1209Ser) n.219G>C n.300G>C c.3722G>C (p.Trp1241Ser) c.3686G>C (p.Trp1229Ser) | ClinVar dbSNP |
1 | g.10345920G>T | CA338342520 | KIF1B | c.3827G>T (p.Trp1276Leu) c.3689G>T (p.Trp1230Leu) c.3764G>T (p.Trp1255Leu) c.3626G>T (p.Trp1209Leu) n.219G>T n.300G>T c.3722G>T (p.Trp1241Leu) c.3686G>T (p.Trp1229Leu) | |
1 | g.10345921G>A | CA338342521 | KIF1B | c.3828G>A (p.Trp1276Ter) c.3690G>A (p.Trp1230Ter) c.3765G>A (p.Trp1255Ter) c.3627G>A (p.Trp1209Ter) n.220G>A n.301G>A c.3723G>A (p.Trp1241Ter) c.3687G>A (p.Trp1229Ter) | dbSNP gnomAD v2 COSMIC |
1 | g.10345921G>C | CA338342522 | KIF1B | c.3828G>C (p.Trp1276Cys) c.3690G>C (p.Trp1230Cys) c.3765G>C (p.Trp1255Cys) c.3627G>C (p.Trp1209Cys) n.220G>C n.301G>C c.3723G>C (p.Trp1241Cys) c.3687G>C (p.Trp1229Cys) | |
1 | g.10345921G= | CA1153146210 | KIF1B | c.3828G= (p.Trp1276=) c.3690G= (p.Trp1230=) c.3765G= (p.Trp1255=) c.3627G= (p.Trp1209=) n.220G= n.301G= c.3723G= (p.Trp1241=) c.3687G= (p.Trp1229=) | |
1 | g.10345921G>T | CA338342523 | KIF1B | c.3828G>T (p.Trp1276Cys) c.3690G>T (p.Trp1230Cys) c.3765G>T (p.Trp1255Cys) c.3627G>T (p.Trp1209Cys) n.220G>T n.301G>T c.3723G>T (p.Trp1241Cys) c.3687G>T (p.Trp1229Cys) | |
1 | g.10345922T>A | CA338342526 | KIF1B | c.3829T>A (p.Phe1277Ile) c.3691T>A (p.Phe1231Ile) c.3766T>A (p.Phe1256Ile) c.3628T>A (p.Phe1210Ile) n.221T>A n.302T>A c.3724T>A (p.Phe1242Ile) c.3688T>A (p.Phe1230Ile) | |
1 | g.10345922T>C | CA338342524 | KIF1B | c.3829T>C (p.Phe1277Leu) c.3691T>C (p.Phe1231Leu) c.3766T>C (p.Phe1256Leu) c.3628T>C (p.Phe1210Leu) n.221T>C n.302T>C c.3724T>C (p.Phe1242Leu) c.3688T>C (p.Phe1230Leu) | |
1 | g.10345922T>G | CA338342525 | KIF1B | c.3829T>G (p.Phe1277Val) c.3691T>G (p.Phe1231Val) c.3766T>G (p.Phe1256Val) c.3628T>G (p.Phe1210Val) n.221T>G n.302T>G c.3724T>G (p.Phe1242Val) c.3688T>G (p.Phe1230Val) | |
1 | g.10345923T>A | CA338342527 | KIF1B | c.3830T>A (p.Phe1277Tyr) c.3692T>A (p.Phe1231Tyr) c.3767T>A (p.Phe1256Tyr) c.3629T>A (p.Phe1210Tyr) n.222T>A n.303T>A c.3725T>A (p.Phe1242Tyr) c.3689T>A (p.Phe1230Tyr) | |
1 | g.10345923T>C | CA338342528 | KIF1B | c.3830T>C (p.Phe1277Ser) c.3692T>C (p.Phe1231Ser) c.3767T>C (p.Phe1256Ser) c.3629T>C (p.Phe1210Ser) n.222T>C n.303T>C c.3725T>C (p.Phe1242Ser) c.3689T>C (p.Phe1230Ser) | ClinVar |
1 | g.10345923T>G | CA581866 | KIF1B | c.3830T>G (p.Phe1277Cys) c.3692T>G (p.Phe1231Cys) c.3767T>G (p.Phe1256Cys) c.3629T>G (p.Phe1210Cys) n.222T>G n.303T>G c.3725T>G (p.Phe1242Cys) c.3689T>G (p.Phe1230Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10345923T= | CA1147430149 | KIF1B | c.3830T= (p.Phe1277=) c.3692T= (p.Phe1231=) c.3767T= (p.Phe1256=) c.3629T= (p.Phe1210=) n.222T= n.303T= c.3725T= (p.Phe1242=) c.3689T= (p.Phe1230=) | |
1 | g.10345924T>A | CA338342529 | KIF1B | c.3831T>A (p.Phe1277Leu) c.3693T>A (p.Phe1231Leu) c.3768T>A (p.Phe1256Leu) c.3630T>A (p.Phe1210Leu) n.223T>A n.304T>A c.3726T>A (p.Phe1242Leu) c.3690T>A (p.Phe1230Leu) | |
1 | g.10345924T>C | CA415884469 | KIF1B | c.3831T>C (p.Phe1277=) c.3693T>C (p.Phe1231=) c.3768T>C (p.Phe1256=) c.3630T>C (p.Phe1210=) n.223T>C n.304T>C c.3726T>C (p.Phe1242=) c.3690T>C (p.Phe1230=) | |
1 | g.10345924T>G | CA338342530 | KIF1B | c.3831T>G (p.Phe1277Leu) c.3693T>G (p.Phe1231Leu) c.3768T>G (p.Phe1256Leu) c.3630T>G (p.Phe1210Leu) n.223T>G n.304T>G c.3726T>G (p.Phe1242Leu) c.3690T>G (p.Phe1230Leu) | gnomAD v4 |
1 | g.10345925G>A | CA338342533 | KIF1B | c.3832G>A (p.Glu1278Lys) c.3694G>A (p.Glu1232Lys) c.3769G>A (p.Glu1257Lys) c.3631G>A (p.Glu1211Lys) n.224G>A n.305G>A c.3727G>A (p.Glu1243Lys) c.3691G>A (p.Glu1231Lys) | |
1 | g.10345925G>C | CA338342531 | KIF1B | c.3832G>C (p.Glu1278Gln) c.3694G>C (p.Glu1232Gln) c.3769G>C (p.Glu1257Gln) c.3631G>C (p.Glu1211Gln) n.224G>C n.305G>C c.3727G>C (p.Glu1243Gln) c.3691G>C (p.Glu1231Gln) | |
1 | g.10345925G>T | CA338342532 | KIF1B | c.3832G>T (p.Glu1278Ter) c.3694G>T (p.Glu1232Ter) c.3769G>T (p.Glu1257Ter) c.3631G>T (p.Glu1211Ter) n.224G>T n.305G>T c.3727G>T (p.Glu1243Ter) c.3691G>T (p.Glu1231Ter) | |
1 | g.10345926A>C | CA338342534 | KIF1B | c.3833A>C (p.Glu1278Ala) c.3695A>C (p.Glu1232Ala) c.3770A>C (p.Glu1257Ala) c.3632A>C (p.Glu1211Ala) n.225A>C n.306A>C c.3728A>C (p.Glu1243Ala) c.3692A>C (p.Glu1231Ala) | |
1 | g.10345926A>G | CA338342535 | KIF1B | c.3833A>G (p.Glu1278Gly) c.3695A>G (p.Glu1232Gly) c.3770A>G (p.Glu1257Gly) c.3632A>G (p.Glu1211Gly) n.225A>G n.306A>G c.3728A>G (p.Glu1243Gly) c.3692A>G (p.Glu1231Gly) | |
1 | g.10345926A>T | CA338342536 | KIF1B | c.3833A>T (p.Glu1278Val) c.3695A>T (p.Glu1232Val) c.3770A>T (p.Glu1257Val) c.3632A>T (p.Glu1211Val) n.225A>T n.306A>T c.3728A>T (p.Glu1243Val) c.3692A>T (p.Glu1231Val) | |
1 | g.10345927G>A | CA415884470 | KIF1B | c.3834G>A (p.Glu1278=) c.3696G>A (p.Glu1232=) c.3771G>A (p.Glu1257=) c.3633G>A (p.Glu1211=) n.226G>A n.307G>A c.3729G>A (p.Glu1243=) c.3693G>A (p.Glu1231=) | |
1 | g.10345927G>C | CA581867 | KIF1B | c.3834G>C (p.Glu1278Asp) c.3696G>C (p.Glu1232Asp) c.3771G>C (p.Glu1257Asp) c.3633G>C (p.Glu1211Asp) n.226G>C n.307G>C c.3729G>C (p.Glu1243Asp) c.3693G>C (p.Glu1231Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10345927G= | CA1153146211 | KIF1B | c.3834G= (p.Glu1278=) c.3696G= (p.Glu1232=) c.3771G= (p.Glu1257=) c.3633G= (p.Glu1211=) n.226G= n.307G= c.3729G= (p.Glu1243=) c.3693G= (p.Glu1231=) | |
1 | g.10345927G>T | CA338342537 | KIF1B | c.3834G>T (p.Glu1278Asp) c.3696G>T (p.Glu1232Asp) c.3771G>T (p.Glu1257Asp) c.3633G>T (p.Glu1211Asp) n.226G>T n.307G>T c.3729G>T (p.Glu1243Asp) c.3693G>T (p.Glu1231Asp) | |
1 | g.10345928A= | CA1148297669 | KIF1B | c.3835A= (p.Ile1279=) c.3697A= (p.Ile1233=) c.3772A= (p.Ile1258=) c.3634A= (p.Ile1212=) n.227A= n.308A= c.3730A= (p.Ile1244=) c.3694A= (p.Ile1232=) | |
1 | g.10345928A>C | CA338342538 | KIF1B | c.3835A>C (p.Ile1279Leu) c.3697A>C (p.Ile1233Leu) c.3772A>C (p.Ile1258Leu) c.3634A>C (p.Ile1212Leu) n.227A>C n.308A>C c.3730A>C (p.Ile1244Leu) c.3694A>C (p.Ile1232Leu) | |
1 | g.10345928A>G | CA581868 | KIF1B | c.3835A>G (p.Ile1279Val) c.3697A>G (p.Ile1233Val) c.3772A>G (p.Ile1258Val) c.3634A>G (p.Ile1212Val) n.227A>G n.308A>G c.3730A>G (p.Ile1244Val) c.3694A>G (p.Ile1232Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10345928A>T | CA338342539 | KIF1B | c.3835A>T (p.Ile1279Phe) c.3697A>T (p.Ile1233Phe) c.3772A>T (p.Ile1258Phe) c.3634A>T (p.Ile1212Phe) n.227A>T n.308A>T c.3730A>T (p.Ile1244Phe) c.3694A>T (p.Ile1232Phe) | |
1 | g.10345929T>A | CA338342540 | KIF1B | c.3836T>A (p.Ile1279Asn) c.3698T>A (p.Ile1233Asn) c.3773T>A (p.Ile1258Asn) c.3635T>A (p.Ile1212Asn) n.228T>A n.309T>A c.3731T>A (p.Ile1244Asn) c.3695T>A (p.Ile1232Asn) | |
1 | g.10345929T>C | CA338342541 | KIF1B | c.3836T>C (p.Ile1279Thr) c.3698T>C (p.Ile1233Thr) c.3773T>C (p.Ile1258Thr) c.3635T>C (p.Ile1212Thr) n.228T>C n.309T>C c.3731T>C (p.Ile1244Thr) c.3695T>C (p.Ile1232Thr) | |
1 | g.10345929T>G | CA338342542 | KIF1B | c.3836T>G (p.Ile1279Ser) c.3698T>G (p.Ile1233Ser) c.3773T>G (p.Ile1258Ser) c.3635T>G (p.Ile1212Ser) n.228T>G n.309T>G c.3731T>G (p.Ile1244Ser) c.3695T>G (p.Ile1232Ser) | |
1 | g.10345930C>A | CA415884472 | KIF1B | c.3837C>A (p.Ile1279=) c.3699C>A (p.Ile1233=) c.3774C>A (p.Ile1258=) c.3636C>A (p.Ile1212=) n.229C>A n.310C>A c.3732C>A (p.Ile1244=) c.3696C>A (p.Ile1232=) | |
1 | g.10345930C>G | CA338342543 | KIF1B | c.3837C>G (p.Ile1279Met) c.3699C>G (p.Ile1233Met) c.3774C>G (p.Ile1258Met) c.3636C>G (p.Ile1212Met) n.229C>G n.310C>G c.3732C>G (p.Ile1244Met) c.3696C>G (p.Ile1232Met) | |
1 | g.10345930C>T | CA415884471 | KIF1B | c.3837C>T (p.Ile1279=) c.3699C>T (p.Ile1233=) c.3774C>T (p.Ile1258=) c.3636C>T (p.Ile1212=) n.229C>T n.310C>T c.3732C>T (p.Ile1244=) c.3696C>T (p.Ile1232=) | gnomAD v4 |
1 | g.10345931A= | CA1153146212 | KIF1B | c.3838A= (p.Ser1280=) c.3700A= (p.Ser1234=) c.3775A= (p.Ser1259=) c.3637A= (p.Ser1213=) n.230A= n.311A= c.3733A= (p.Ser1245=) c.3697A= (p.Ser1233=) | |
1 | g.10345931A>C | CA338342544 | KIF1B | c.3838A>C (p.Ser1280Arg) c.3700A>C (p.Ser1234Arg) c.3775A>C (p.Ser1259Arg) c.3637A>C (p.Ser1213Arg) n.230A>C n.311A>C c.3733A>C (p.Ser1245Arg) c.3697A>C (p.Ser1233Arg) | |
1 | g.10345931A>G | CA338342546 | KIF1B | c.3838A>G (p.Ser1280Gly) c.3700A>G (p.Ser1234Gly) c.3775A>G (p.Ser1259Gly) c.3637A>G (p.Ser1213Gly) n.230A>G n.311A>G c.3733A>G (p.Ser1245Gly) c.3697A>G (p.Ser1233Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10345931A>T | CA338342545 | KIF1B | c.3838A>T (p.Ser1280Cys) c.3700A>T (p.Ser1234Cys) c.3775A>T (p.Ser1259Cys) c.3637A>T (p.Ser1213Cys) n.230A>T n.311A>T c.3733A>T (p.Ser1245Cys) c.3697A>T (p.Ser1233Cys) | |
1 | g.10345932G>A | CA581869 | KIF1B | c.3839G>A (p.Ser1280Asn) c.3701G>A (p.Ser1234Asn) c.3776G>A (p.Ser1259Asn) c.3638G>A (p.Ser1213Asn) n.231G>A n.312G>A c.3734G>A (p.Ser1245Asn) c.3698G>A (p.Ser1233Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10345932G>C | CA338342547 | KIF1B | c.3839G>C (p.Ser1280Thr) c.3701G>C (p.Ser1234Thr) c.3776G>C (p.Ser1259Thr) c.3638G>C (p.Ser1213Thr) n.231G>C n.312G>C c.3734G>C (p.Ser1245Thr) c.3698G>C (p.Ser1233Thr) | |
1 | g.10345932G= | CA1153146213 | KIF1B | c.3839G= (p.Ser1280=) c.3701G= (p.Ser1234=) c.3776G= (p.Ser1259=) c.3638G= (p.Ser1213=) n.231G= n.312G= c.3734G= (p.Ser1245=) c.3698G= (p.Ser1233=) | |
1 | g.10345932G>T | CA338342548 | KIF1B | c.3839G>T (p.Ser1280Ile) c.3701G>T (p.Ser1234Ile) c.3776G>T (p.Ser1259Ile) c.3638G>T (p.Ser1213Ile) n.231G>T n.312G>T c.3734G>T (p.Ser1245Ile) c.3698G>T (p.Ser1233Ile) | |
1 | g.10345933T>A | CA338342549 | KIF1B | c.3840T>A (p.Ser1280Arg) c.3702T>A (p.Ser1234Arg) c.3777T>A (p.Ser1259Arg) c.3639T>A (p.Ser1213Arg) n.232T>A n.313T>A c.3735T>A (p.Ser1245Arg) c.3699T>A (p.Ser1233Arg) | |
1 | g.10345933T>C | CA415884473 | KIF1B | c.3840T>C (p.Ser1280=) c.3702T>C (p.Ser1234=) c.3777T>C (p.Ser1259=) c.3639T>C (p.Ser1213=) n.232T>C n.313T>C c.3735T>C (p.Ser1245=) c.3699T>C (p.Ser1233=) | |
1 | g.10345933T>G | CA338342550 | KIF1B | c.3840T>G (p.Ser1280Arg) c.3702T>G (p.Ser1234Arg) c.3777T>G (p.Ser1259Arg) c.3639T>G (p.Ser1213Arg) n.232T>G n.313T>G c.3735T>G (p.Ser1245Arg) c.3699T>G (p.Ser1233Arg) | |
1 | g.10345934G>A | CA338342551 | KIF1B | c.3841G>A (p.Glu1281Lys) c.3703G>A (p.Glu1235Lys) c.3778G>A (p.Glu1260Lys) c.3640G>A (p.Glu1214Lys) n.233G>A n.314G>A c.3736G>A (p.Glu1246Lys) c.3700G>A (p.Glu1234Lys) | |
1 | g.10345934G>C | CA338342552 | KIF1B | c.3841G>C (p.Glu1281Gln) c.3703G>C (p.Glu1235Gln) c.3778G>C (p.Glu1260Gln) c.3640G>C (p.Glu1214Gln) n.233G>C n.314G>C c.3736G>C (p.Glu1246Gln) c.3700G>C (p.Glu1234Gln) | |
1 | g.10345934G>T | CA338342553 | KIF1B | c.3841G>T (p.Glu1281Ter) c.3703G>T (p.Glu1235Ter) c.3778G>T (p.Glu1260Ter) c.3640G>T (p.Glu1214Ter) n.233G>T n.314G>T c.3736G>T (p.Glu1246Ter) c.3700G>T (p.Glu1234Ter) | |
1 | g.10345935A>C | CA338342554 | KIF1B | c.3842A>C (p.Glu1281Ala) c.3704A>C (p.Glu1235Ala) c.3779A>C (p.Glu1260Ala) c.3641A>C (p.Glu1214Ala) n.234A>C n.315A>C c.3737A>C (p.Glu1246Ala) c.3701A>C (p.Glu1234Ala) | |
1 | g.10345935A>G | CA338342555 | KIF1B | c.3842A>G (p.Glu1281Gly) c.3704A>G (p.Glu1235Gly) c.3779A>G (p.Glu1260Gly) c.3641A>G (p.Glu1214Gly) n.234A>G n.315A>G c.3737A>G (p.Glu1246Gly) c.3701A>G (p.Glu1234Gly) | |
1 | g.10345935A>T | CA338342556 | KIF1B | c.3842A>T (p.Glu1281Val) c.3704A>T (p.Glu1235Val) c.3779A>T (p.Glu1260Val) c.3641A>T (p.Glu1214Val) n.234A>T n.315A>T c.3737A>T (p.Glu1246Val) c.3701A>T (p.Glu1234Val) | |
1 | g.10345936A>C | CA338342557 | KIF1B | c.3843A>C (p.Glu1281Asp) c.3705A>C (p.Glu1235Asp) c.3780A>C (p.Glu1260Asp) c.3642A>C (p.Glu1214Asp) n.235A>C n.316A>C c.3738A>C (p.Glu1246Asp) c.3702A>C (p.Glu1234Asp) | |
1 | g.10345936A>G | CA415884474 | KIF1B | c.3843A>G (p.Glu1281=) c.3705A>G (p.Glu1235=) c.3780A>G (p.Glu1260=) c.3642A>G (p.Glu1214=) n.235A>G n.316A>G c.3738A>G (p.Glu1246=) c.3702A>G (p.Glu1234=) | |
1 | g.10345936A>T | CA338342558 | KIF1B | c.3843A>T (p.Glu1281Asp) c.3705A>T (p.Glu1235Asp) c.3780A>T (p.Glu1260Asp) c.3642A>T (p.Glu1214Asp) n.235A>T n.316A>T c.3738A>T (p.Glu1246Asp) c.3702A>T (p.Glu1234Asp) | |
1 | g.10345937C>A | CA338342559 | KIF1B | c.3844C>A (p.Leu1282Met) c.3706C>A (p.Leu1236Met) c.3781C>A (p.Leu1261Met) c.3643C>A (p.Leu1215Met) n.236C>A n.317C>A c.3739C>A (p.Leu1247Met) c.3703C>A (p.Leu1235Met) | |
1 | g.10345937C>G | CA338342560 | KIF1B | c.3844C>G (p.Leu1282Val) c.3706C>G (p.Leu1236Val) c.3781C>G (p.Leu1261Val) c.3643C>G (p.Leu1215Val) n.236C>G n.317C>G c.3739C>G (p.Leu1247Val) c.3703C>G (p.Leu1235Val) | |
1 | g.10345937C>T | CA415884475 | KIF1B | c.3844C>T (p.Leu1282=) c.3706C>T (p.Leu1236=) c.3781C>T (p.Leu1261=) c.3643C>T (p.Leu1215=) n.236C>T n.317C>T c.3739C>T (p.Leu1247=) c.3703C>T (p.Leu1235=) | |
1 | g.10345938T>A | CA338342561 | KIF1B | c.3845T>A (p.Leu1282Gln) c.3707T>A (p.Leu1236Gln) c.3782T>A (p.Leu1261Gln) c.3644T>A (p.Leu1215Gln) n.237T>A n.318T>A c.3740T>A (p.Leu1247Gln) c.3704T>A (p.Leu1235Gln) | |
1 | g.10345938T>C | CA338342562 | KIF1B | c.3845T>C (p.Leu1282Pro) c.3707T>C (p.Leu1236Pro) c.3782T>C (p.Leu1261Pro) c.3644T>C (p.Leu1215Pro) n.237T>C n.318T>C c.3740T>C (p.Leu1247Pro) c.3704T>C (p.Leu1235Pro) | |
1 | g.10345938T>G | CA338342563 | KIF1B | c.3845T>G (p.Leu1282Arg) c.3707T>G (p.Leu1236Arg) c.3782T>G (p.Leu1261Arg) c.3644T>G (p.Leu1215Arg) n.237T>G n.318T>G c.3740T>G (p.Leu1247Arg) c.3704T>G (p.Leu1235Arg) | gnomAD v4 |
1 | g.10345939G>A | CA415884477 | KIF1B | c.3846G>A (p.Leu1282=) c.3708G>A (p.Leu1236=) c.3783G>A (p.Leu1261=) c.3645G>A (p.Leu1215=) n.238G>A n.319G>A c.3741G>A (p.Leu1247=) c.3705G>A (p.Leu1235=) | |
1 | g.10345939G>C | CA415884478 | KIF1B | c.3846G>C (p.Leu1282=) c.3708G>C (p.Leu1236=) c.3783G>C (p.Leu1261=) c.3645G>C (p.Leu1215=) n.238G>C n.319G>C c.3741G>C (p.Leu1247=) c.3705G>C (p.Leu1235=) | |
1 | g.10345939G>T | CA415884480 | KIF1B | c.3846G>T (p.Leu1282=) c.3708G>T (p.Leu1236=) c.3783G>T (p.Leu1261=) c.3645G>T (p.Leu1215=) n.238G>T n.319G>T c.3741G>T (p.Leu1247=) c.3705G>T (p.Leu1235=) | |
1 | g.10345940G>A | CA338342564 | KIF1B | c.3847G>A (p.Glu1283Lys) c.3709G>A (p.Glu1237Lys) c.3784G>A (p.Glu1262Lys) c.3646G>A (p.Glu1216Lys) n.239G>A n.320G>A c.3742G>A (p.Glu1248Lys) c.3706G>A (p.Glu1236Lys) | |
1 | g.10345940G>C | CA338342565 | KIF1B | c.3847G>C (p.Glu1283Gln) c.3709G>C (p.Glu1237Gln) c.3784G>C (p.Glu1262Gln) c.3646G>C (p.Glu1216Gln) n.239G>C n.320G>C c.3742G>C (p.Glu1248Gln) c.3706G>C (p.Glu1236Gln) | |
1 | g.10345940G>T | CA338342566 | KIF1B | c.3847G>T (p.Glu1283Ter) c.3709G>T (p.Glu1237Ter) c.3784G>T (p.Glu1262Ter) c.3646G>T (p.Glu1216Ter) n.239G>T n.320G>T c.3742G>T (p.Glu1248Ter) c.3706G>T (p.Glu1236Ter) | |
1 | g.10345941A= | CA1153146214 | KIF1B | c.3848A= (p.Glu1283=) c.3710A= (p.Glu1237=) c.3785A= (p.Glu1262=) c.3647A= (p.Glu1216=) n.240A= n.321A= c.3743A= (p.Glu1248=) c.3707A= (p.Glu1236=) | |
1 | g.10345941A>C | CA338342567 | KIF1B | c.3848A>C (p.Glu1283Ala) c.3710A>C (p.Glu1237Ala) c.3785A>C (p.Glu1262Ala) c.3647A>C (p.Glu1216Ala) n.240A>C n.321A>C c.3743A>C (p.Glu1248Ala) c.3707A>C (p.Glu1236Ala) | |
1 | g.10345941A>G | CA581870 | KIF1B | c.3848A>G (p.Glu1283Gly) c.3710A>G (p.Glu1237Gly) c.3785A>G (p.Glu1262Gly) c.3647A>G (p.Glu1216Gly) n.240A>G n.321A>G c.3743A>G (p.Glu1248Gly) c.3707A>G (p.Glu1236Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10345941A>T | CA338342568 | KIF1B | c.3848A>T (p.Glu1283Val) c.3710A>T (p.Glu1237Val) c.3785A>T (p.Glu1262Val) c.3647A>T (p.Glu1216Val) n.240A>T n.321A>T c.3743A>T (p.Glu1248Val) c.3707A>T (p.Glu1236Val) | |
1 | g.10345942G>A | CA415884483 | KIF1B | c.3849G>A (p.Glu1283=) c.3711G>A (p.Glu1237=) c.3786G>A (p.Glu1262=) c.3648G>A (p.Glu1216=) n.241G>A n.322G>A c.3744G>A (p.Glu1248=) c.3708G>A (p.Glu1236=) | |
1 | g.10345942G>C | CA338342569 | KIF1B | c.3849G>C (p.Glu1283Asp) c.3711G>C (p.Glu1237Asp) c.3786G>C (p.Glu1262Asp) c.3648G>C (p.Glu1216Asp) n.241G>C n.322G>C c.3744G>C (p.Glu1248Asp) c.3708G>C (p.Glu1236Asp) | ClinVar gnomAD v4 |
1 | g.10345942G>T | CA338342570 | KIF1B | c.3849G>T (p.Glu1283Asp) c.3711G>T (p.Glu1237Asp) c.3786G>T (p.Glu1262Asp) c.3648G>T (p.Glu1216Asp) n.241G>T n.322G>T c.3744G>T (p.Glu1248Asp) c.3708G>T (p.Glu1236Asp) | |
1 | g.10345943C>A | CA338342572 | KIF1B | c.3850C>A (p.Pro1284Thr) c.3712C>A (p.Pro1238Thr) c.3787C>A (p.Pro1263Thr) c.3649C>A (p.Pro1217Thr) n.242C>A n.323C>A c.3745C>A (p.Pro1249Thr) c.3709C>A (p.Pro1237Thr) | gnomAD v4 |
1 | g.10345943C= | CA1141580570 | KIF1B | c.3850C= (p.Pro1284=) c.3712C= (p.Pro1238=) c.3787C= (p.Pro1263=) c.3649C= (p.Pro1217=) n.242C= n.323C= c.3745C= (p.Pro1249=) c.3709C= (p.Pro1237=) | |
1 | g.10345943C>G | CA338342571 | KIF1B | c.3850C>G (p.Pro1284Ala) c.3712C>G (p.Pro1238Ala) c.3787C>G (p.Pro1263Ala) c.3649C>G (p.Pro1217Ala) n.242C>G n.323C>G c.3745C>G (p.Pro1249Ala) c.3709C>G (p.Pro1237Ala) | |
1 | g.10345943C>T | CA116993 | KIF1B | c.3850C>T (p.Pro1284Ser) c.3712C>T (p.Pro1238Ser) c.3787C>T (p.Pro1263Ser) c.3649C>T (p.Pro1217Ser) n.242C>T n.323C>T c.3745C>T (p.Pro1249Ser) c.3709C>T (p.Pro1237Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |