Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.67490332_67490333delinsCT | CA1980172411 | AIP | c.639_640delinsCT c.473_474delinsCT (p.Pro158=) n.1174_1175delinsCT c.469-665_469-664delinsCT (n.469-665_469-664delinsCT) c.293_294delinsCT (p.Pro98=) c.662_663delinsCT (p.Pro221=) c.485_486delinsCT (p.Pro162=) c.482_483delinsCT (p.Pro161=) c.314_315delinsCT (p.Pro105=) | |
11 | g.67490333del | CA1139662046 | AIP | c.640del c.474del (p.Glu159AsnfsTer?) n.1175del c.469-664del (n.469-664del) c.294del (p.Glu99AsnfsTer?) c.663del (p.Glu222AsnfsTer?) c.486del (p.Glu163AsnfsTer?) c.483del (p.Glu162AsnfsTer?) c.315del (p.Glu106AsnfsTer?) | ClinVar dbSNP |
11 | g.67490333T>A | CA475509191 | AIP | c.640T>A c.474T>A (p.Pro158=) n.1175T>A c.469-664T>A (n.469-664T>A) c.294T>A (p.Pro98=) c.663T>A (p.Pro221=) c.486T>A (p.Pro162=) c.483T>A (p.Pro161=) c.315T>A (p.Pro105=) | |
11 | g.67490333T>C | CA475509192 | AIP | c.640T>C c.474T>C (p.Pro158=) n.1175T>C c.469-664T>C (n.469-664T>C) c.294T>C (p.Pro98=) c.663T>C (p.Pro221=) c.486T>C (p.Pro162=) c.483T>C (p.Pro161=) c.315T>C (p.Pro105=) | gnomAD v4 |
11 | g.67490333T>G | CA475509193 | AIP | c.640T>G c.474T>G (p.Pro158=) n.1175T>G c.469-664T>G (n.469-664T>G) c.294T>G (p.Pro98=) c.663T>G (p.Pro221=) c.486T>G (p.Pro162=) c.483T>G (p.Pro161=) c.315T>G (p.Pro105=) | |
11 | g.67490334G>A | CA381551503 | AIP | c.641G>A c.475G>A (p.Glu159Lys) n.1176G>A c.469-663G>A (n.469-663G>A) c.295G>A (p.Glu99Lys) c.664G>A (p.Glu222Lys) c.487G>A (p.Glu163Lys) c.484G>A (p.Glu162Lys) c.316G>A (p.Glu106Lys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.67490334G>C | CA381551504 | AIP | c.641G>C c.475G>C (p.Glu159Gln) n.1176G>C c.469-663G>C (n.469-663G>C) c.295G>C (p.Glu99Gln) c.664G>C (p.Glu222Gln) c.487G>C (p.Glu163Gln) c.484G>C (p.Glu162Gln) c.316G>C (p.Glu106Gln) | |
11 | g.67490334G= | CA1980172412 | AIP | c.641G= c.475G= (p.Glu159=) n.1176G= c.469-663G= (n.469-663G=) c.295G= (p.Glu99=) c.664G= (p.Glu222=) c.487G= (p.Glu163=) c.484G= (p.Glu162=) c.316G= (p.Glu106=) | |
11 | g.67490334G>T | CA381551505 | AIP | c.641G>T c.475G>T (p.Glu159Ter) n.1176G>T c.469-663G>T (n.469-663G>T) c.295G>T (p.Glu99Ter) c.664G>T (p.Glu222Ter) c.487G>T (p.Glu163Ter) c.484G>T (p.Glu162Ter) c.316G>T (p.Glu106Ter) | |
11 | g.67490335A>C | CA381551508 | AIP | c.642A>C c.476A>C (p.Glu159Ala) n.1177A>C c.469-662A>C (n.469-662A>C) c.296A>C (p.Glu99Ala) c.665A>C (p.Glu222Ala) c.488A>C (p.Glu163Ala) c.485A>C (p.Glu162Ala) c.317A>C (p.Glu106Ala) | |
11 | g.67490335A>G | CA381551506 | AIP | c.642A>G c.476A>G (p.Glu159Gly) n.1177A>G c.469-662A>G (n.469-662A>G) c.296A>G (p.Glu99Gly) c.665A>G (p.Glu222Gly) c.488A>G (p.Glu163Gly) c.485A>G (p.Glu162Gly) c.317A>G (p.Glu106Gly) | |
11 | g.67490335A>T | CA381551507 | AIP | c.642A>T c.476A>T (p.Glu159Val) n.1177A>T c.469-662A>T (n.469-662A>T) c.296A>T (p.Glu99Val) c.665A>T (p.Glu222Val) c.488A>T (p.Glu163Val) c.485A>T (p.Glu162Val) c.317A>T (p.Glu106Val) | |
11 | g.67490336A>C | CA381551509 | AIP | c.643A>C c.477A>C (p.Glu159Asp) n.1178A>C c.469-661A>C (n.469-661A>C) c.297A>C (p.Glu99Asp) c.666A>C (p.Glu222Asp) c.489A>C (p.Glu163Asp) c.486A>C (p.Glu162Asp) c.318A>C (p.Glu106Asp) | |
11 | g.67490336A>G | CA475509195 | AIP | c.643A>G c.477A>G (p.Glu159=) n.1178A>G c.469-661A>G (n.469-661A>G) c.297A>G (p.Glu99=) c.666A>G (p.Glu222=) c.489A>G (p.Glu163=) c.486A>G (p.Glu162=) c.318A>G (p.Glu106=) | ClinVar dbSNP |
11 | g.67490336A>T | CA381551510 | AIP | c.643A>T c.477A>T (p.Glu159Asp) n.1178A>T c.469-661A>T (n.469-661A>T) c.297A>T (p.Glu99Asp) c.666A>T (p.Glu222Asp) c.489A>T (p.Glu163Asp) c.486A>T (p.Glu162Asp) c.318A>T (p.Glu106Asp) | gnomAD v4 |
11 | g.67490337T>A | CA381551511 | AIP | c.644T>A c.478T>A (p.Trp160Arg) n.1179T>A c.469-660T>A (n.469-660T>A) c.298T>A (p.Trp100Arg) c.667T>A (p.Trp223Arg) c.490T>A (p.Trp164Arg) c.487T>A (p.Trp163Arg) c.319T>A (p.Trp107Arg) | |
11 | g.67490337T>C | CA381551512 | AIP | c.644T>C c.478T>C (p.Trp160Arg) n.1179T>C c.469-660T>C (n.469-660T>C) c.298T>C (p.Trp100Arg) c.667T>C (p.Trp223Arg) c.490T>C (p.Trp164Arg) c.487T>C (p.Trp163Arg) c.319T>C (p.Trp107Arg) | |
11 | g.67490337T>G | CA381551513 | AIP | c.644T>G c.478T>G (p.Trp160Gly) n.1179T>G c.469-660T>G (n.469-660T>G) c.298T>G (p.Trp100Gly) c.667T>G (p.Trp223Gly) c.490T>G (p.Trp164Gly) c.487T>G (p.Trp163Gly) c.319T>G (p.Trp107Gly) | |
11 | g.67490338G>A | CA381551514 | AIP | c.645G>A c.479G>A (p.Trp160Ter) n.1180G>A c.469-659G>A (n.469-659G>A) c.299G>A (p.Trp100Ter) c.668G>A (p.Trp223Ter) c.491G>A (p.Trp164Ter) c.488G>A (p.Trp163Ter) c.320G>A (p.Trp107Ter) | |
11 | g.67490338G>C | CA381551516 | AIP | c.645G>C c.479G>C (p.Trp160Ser) n.1180G>C c.469-659G>C (n.469-659G>C) c.299G>C (p.Trp100Ser) c.668G>C (p.Trp223Ser) c.491G>C (p.Trp164Ser) c.488G>C (p.Trp163Ser) c.320G>C (p.Trp107Ser) | ClinVar dbSNP |
11 | g.67490338G>T | CA381551515 | AIP | c.645G>T c.479G>T (p.Trp160Leu) n.1180G>T c.469-659G>T (n.469-659G>T) c.299G>T (p.Trp100Leu) c.668G>T (p.Trp223Leu) c.491G>T (p.Trp164Leu) c.488G>T (p.Trp163Leu) c.320G>T (p.Trp107Leu) | |
11 | g.67490339G>A | CA381551517 | AIP | c.646G>A c.480G>A (p.Trp160Ter) n.1181G>A c.469-658G>A (n.469-658G>A) c.300G>A (p.Trp100Ter) c.669G>A (p.Trp223Ter) c.492G>A (p.Trp164Ter) c.489G>A (p.Trp163Ter) c.321G>A (p.Trp107Ter) | |
11 | g.67490339G>C | CA381551518 | AIP | c.646G>C c.480G>C (p.Trp160Cys) n.1181G>C c.469-658G>C (n.469-658G>C) c.300G>C (p.Trp100Cys) c.669G>C (p.Trp223Cys) c.492G>C (p.Trp164Cys) c.489G>C (p.Trp163Cys) c.321G>C (p.Trp107Cys) | |
11 | g.67490339G>T | CA381551519 | AIP | c.646G>T c.480G>T (p.Trp160Cys) n.1181G>T c.469-658G>T (n.469-658G>T) c.300G>T (p.Trp100Cys) c.669G>T (p.Trp223Cys) c.492G>T (p.Trp164Cys) c.489G>T (p.Trp163Cys) c.321G>T (p.Trp107Cys) | gnomAD v4 |
11 | g.67490340A>C | CA381551520 | AIP | c.647A>C c.481A>C (p.Ile161Leu) n.1182A>C c.469-657A>C (n.469-657A>C) c.301A>C (p.Ile101Leu) c.670A>C (p.Ile224Leu) c.493A>C (p.Ile165Leu) c.490A>C (p.Ile164Leu) c.322A>C (p.Ile108Leu) | |
11 | g.67490340A>G | CA381551522 | AIP | c.647A>G c.481A>G (p.Ile161Val) n.1182A>G c.469-657A>G (n.469-657A>G) c.301A>G (p.Ile101Val) c.670A>G (p.Ile224Val) c.493A>G (p.Ile165Val) c.490A>G (p.Ile164Val) c.322A>G (p.Ile108Val) | ClinVar |
11 | g.67490340A>T | CA381551523 | AIP | c.647A>T c.481A>T (p.Ile161Phe) n.1182A>T c.469-657A>T (n.469-657A>T) c.301A>T (p.Ile101Phe) c.670A>T (p.Ile224Phe) c.493A>T (p.Ile165Phe) c.490A>T (p.Ile164Phe) c.322A>T (p.Ile108Phe) | COSMIC |
11 | g.67490341T>A | CA381551525 | AIP | c.648T>A c.482T>A (p.Ile161Asn) n.1183T>A c.469-656T>A (n.469-656T>A) c.302T>A (p.Ile101Asn) c.671T>A (p.Ile224Asn) c.494T>A (p.Ile165Asn) c.491T>A (p.Ile164Asn) c.323T>A (p.Ile108Asn) | |
11 | g.67490341T>C | CA381551527 | AIP | c.648T>C c.482T>C (p.Ile161Thr) n.1183T>C c.469-656T>C (n.469-656T>C) c.302T>C (p.Ile101Thr) c.671T>C (p.Ile224Thr) c.494T>C (p.Ile165Thr) c.491T>C (p.Ile164Thr) c.323T>C (p.Ile108Thr) | |
11 | g.67490341T>G | CA381551529 | AIP | c.648T>G c.482T>G (p.Ile161Ser) n.1183T>G c.469-656T>G (n.469-656T>G) c.302T>G (p.Ile101Ser) c.671T>G (p.Ile224Ser) c.494T>G (p.Ile165Ser) c.491T>G (p.Ile164Ser) c.323T>G (p.Ile108Ser) | |
11 | g.67490342C>A | CA475509200 | AIP | c.649C>A c.483C>A (p.Ile161=) n.1184C>A c.469-655C>A (n.469-655C>A) c.303C>A (p.Ile101=) c.672C>A (p.Ile224=) c.495C>A (p.Ile165=) c.492C>A (p.Ile164=) c.324C>A (p.Ile108=) | ClinVar |
11 | g.67490342C= | CA1980172413 | AIP | c.649C= c.483C= (p.Ile161=) n.1184C= c.469-655C= (n.469-655C=) c.303C= (p.Ile101=) c.672C= (p.Ile224=) c.495C= (p.Ile165=) c.492C= (p.Ile164=) c.324C= (p.Ile108=) | |
11 | g.67490342C>G | CA381551531 | AIP | c.649C>G c.483C>G (p.Ile161Met) n.1184C>G c.469-655C>G (n.469-655C>G) c.303C>G (p.Ile101Met) c.672C>G (p.Ile224Met) c.495C>G (p.Ile165Met) c.492C>G (p.Ile164Met) c.324C>G (p.Ile108Met) | ClinVar |
11 | g.67490342C>T | CA475509201 | AIP | c.649C>T c.483C>T (p.Ile161=) n.1184C>T c.469-655C>T (n.469-655C>T) c.303C>T (p.Ile101=) c.672C>T (p.Ile224=) c.495C>T (p.Ile165=) c.492C>T (p.Ile164=) c.324C>T (p.Ile108=) | ClinVar dbSNP gnomAD v2 |
11 | g.67490343C>A | CA381551543 | AIP | c.650C>A c.484C>A (p.Gln162Lys) n.1185C>A c.469-654C>A (n.469-654C>A) c.304C>A (p.Gln102Lys) c.673C>A (p.Gln225Lys) c.496C>A (p.Gln166Lys) c.493C>A (p.Gln165Lys) c.325C>A (p.Gln109Lys) | |
11 | g.67490343C>G | CA381551542 | AIP | c.650C>G c.484C>G (p.Gln162Glu) n.1185C>G c.469-654C>G (n.469-654C>G) c.304C>G (p.Gln102Glu) c.673C>G (p.Gln225Glu) c.496C>G (p.Gln166Glu) c.493C>G (p.Gln165Glu) c.325C>G (p.Gln109Glu) | |
11 | g.67490343C>T | CA381551540 | AIP | c.650C>T c.484C>T (p.Gln162Ter) n.1185C>T c.469-654C>T (n.469-654C>T) c.304C>T (p.Gln102Ter) c.673C>T (p.Gln225Ter) c.496C>T (p.Gln166Ter) c.493C>T (p.Gln165Ter) c.325C>T (p.Gln109Ter) | ClinVar dbSNP |
11 | g.67490344A>C | CA381551545 | AIP | c.651A>C c.485A>C (p.Gln162Pro) n.1186A>C c.469-653A>C (n.469-653A>C) c.305A>C (p.Gln102Pro) c.674A>C (p.Gln225Pro) c.497A>C (p.Gln166Pro) c.494A>C (p.Gln165Pro) c.326A>C (p.Gln109Pro) | |
11 | g.67490344A>G | CA381551547 | AIP | c.651A>G c.485A>G (p.Gln162Arg) n.1186A>G c.469-653A>G (n.469-653A>G) c.305A>G (p.Gln102Arg) c.674A>G (p.Gln225Arg) c.497A>G (p.Gln166Arg) c.494A>G (p.Gln165Arg) c.326A>G (p.Gln109Arg) | |
11 | g.67490344A>T | CA381551548 | AIP | c.651A>T c.485A>T (p.Gln162Leu) n.1186A>T c.469-653A>T (n.469-653A>T) c.305A>T (p.Gln102Leu) c.674A>T (p.Gln225Leu) c.497A>T (p.Gln166Leu) c.494A>T (p.Gln165Leu) c.326A>T (p.Gln109Leu) | |
11 | g.67490345G>A | CA6140907 | AIP | c.652G>A c.486G>A (p.Gln162=) n.1187G>A c.469-652G>A (n.469-652G>A) c.306G>A (p.Gln102=) c.675G>A (p.Gln225=) c.498G>A (p.Gln166=) c.495G>A (p.Gln165=) c.327G>A (p.Gln109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.67490345G>C | CA381551550 | AIP | c.652G>C c.486G>C (p.Gln162His) n.1187G>C c.469-652G>C (n.469-652G>C) c.306G>C (p.Gln102His) c.675G>C (p.Gln225His) c.498G>C (p.Gln166His) c.495G>C (p.Gln165His) c.327G>C (p.Gln109His) | |
11 | g.67490345G= | CA1980172414 | AIP | c.652G= c.486G= (p.Gln162=) n.1187G= c.469-652G= (n.469-652G=) c.306G= (p.Gln102=) c.675G= (p.Gln225=) c.498G= (p.Gln166=) c.495G= (p.Gln165=) c.327G= (p.Gln109=) | |
11 | g.67490345G>T | CA381551551 | AIP | c.652G>T c.486G>T (p.Gln162His) n.1187G>T c.469-652G>T (n.469-652G>T) c.306G>T (p.Gln102His) c.675G>T (p.Gln225His) c.498G>T (p.Gln166His) c.495G>T (p.Gln165His) c.327G>T (p.Gln109His) | gnomAD v4 |
11 | g.67490346C>A | CA381551553 | AIP | c.653C>A c.487C>A (p.Leu163Met) n.1188C>A c.469-651C>A (n.469-651C>A) c.307C>A (p.Leu103Met) c.676C>A (p.Leu226Met) c.499C>A (p.Leu167Met) c.496C>A (p.Leu166Met) c.328C>A (p.Leu110Met) | |
11 | g.67490346C= | CA1980172415 | AIP | c.653C= c.487C= (p.Leu163=) n.1188C= c.469-651C= (n.469-651C=) c.307C= (p.Leu103=) c.676C= (p.Leu226=) c.499C= (p.Leu167=) c.496C= (p.Leu166=) c.328C= (p.Leu110=) | |
11 | g.67490346C>G | CA6140908 | AIP | c.653C>G c.487C>G (p.Leu163Val) n.1188C>G c.469-651C>G (n.469-651C>G) c.307C>G (p.Leu103Val) c.676C>G (p.Leu226Val) c.499C>G (p.Leu167Val) c.496C>G (p.Leu166Val) c.328C>G (p.Leu110Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.67490346C>T | CA475509203 | AIP | c.653C>T c.487C>T (p.Leu163=) n.1188C>T c.469-651C>T (n.469-651C>T) c.307C>T (p.Leu103=) c.676C>T (p.Leu226=) c.499C>T (p.Leu167=) c.496C>T (p.Leu166=) c.328C>T (p.Leu110=) | gnomAD v4 |
11 | g.67490347T>A | CA381551555 | AIP | c.654T>A c.488T>A (p.Leu163Gln) n.1189T>A c.469-650T>A (n.469-650T>A) c.308T>A (p.Leu103Gln) c.677T>A (p.Leu226Gln) c.500T>A (p.Leu167Gln) c.497T>A (p.Leu166Gln) c.329T>A (p.Leu110Gln) | |
11 | g.67490347T>C | CA381551558 | AIP | c.654T>C c.488T>C (p.Leu163Pro) n.1189T>C c.469-650T>C (n.469-650T>C) c.308T>C (p.Leu103Pro) c.677T>C (p.Leu226Pro) c.500T>C (p.Leu167Pro) c.497T>C (p.Leu166Pro) c.329T>C (p.Leu110Pro) |