| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490329C>A | CA381551494 | AIP | c.636C>A c.470C>A (p.Ser157Tyr) n.1171C>A c.469-668C>A (n.469-668C>A) c.290C>A (p.Ser97Tyr) c.659C>A (p.Ser220Tyr) c.482C>A (p.Ser161Tyr) c.479C>A (p.Ser160Tyr) c.311C>A (p.Ser104Tyr) | |
| 11 | g.67490329C= | CA1980172407 | AIP | c.636C= c.470C= (p.Ser157=) n.1171C= c.469-668C= (n.469-668C=) c.290C= (p.Ser97=) c.659C= (p.Ser220=) c.482C= (p.Ser161=) c.479C= (p.Ser160=) c.311C= (p.Ser104=) | |
| 11 | g.67490329C>G | CA381551495 | AIP | c.636C>G c.470C>G (p.Ser157Cys) n.1171C>G c.469-668C>G (n.469-668C>G) c.290C>G (p.Ser97Cys) c.659C>G (p.Ser220Cys) c.482C>G (p.Ser161Cys) c.479C>G (p.Ser160Cys) c.311C>G (p.Ser104Cys) | |
| 11 | g.67490329C>T | CA381551496 | AIP | c.636C>T c.470C>T (p.Ser157Phe) n.1171C>T c.469-668C>T (n.469-668C>T) c.290C>T (p.Ser97Phe) c.659C>T (p.Ser220Phe) c.482C>T (p.Ser161Phe) c.479C>T (p.Ser160Phe) c.311C>T (p.Ser104Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490332dup | CA344150 | AIP | c.639dup c.473dup (p.Glu159Ter) n.1174dup c.469-665dup (n.469-665dup) c.293dup (p.Glu99Ter) c.662dup (p.Glu222Ter) c.485dup (p.Glu163Ter) c.482dup (p.Glu162Ter) c.314dup (p.Glu106Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490330C>A | CA475509189 | AIP | c.637C>A c.471C>A (p.Ser157=) n.1172C>A c.469-667C>A (n.469-667C>A) c.291C>A (p.Ser97=) c.660C>A (p.Ser220=) c.483C>A (p.Ser161=) c.480C>A (p.Ser160=) c.312C>A (p.Ser104=) | dbSNP |
| 11 | g.67490330C= | CA1980172408 | AIP | c.637C= c.471C= (p.Ser157=) n.1172C= c.469-667C= (n.469-667C=) c.291C= (p.Ser97=) c.660C= (p.Ser220=) c.483C= (p.Ser161=) c.480C= (p.Ser160=) c.312C= (p.Ser104=) | |
| 11 | g.67490330C>G | CA475509190 | AIP | c.637C>G c.471C>G (p.Ser157=) n.1172C>G c.469-667C>G (n.469-667C>G) c.291C>G (p.Ser97=) c.660C>G (p.Ser220=) c.483C>G (p.Ser161=) c.480C>G (p.Ser160=) c.312C>G (p.Ser104=) | |
| 11 | g.67490330C>T | CA6140906 | AIP | c.637C>T c.471C>T (p.Ser157=) n.1172C>T c.469-667C>T (n.469-667C>T) c.291C>T (p.Ser97=) c.660C>T (p.Ser220=) c.483C>T (p.Ser161=) c.480C>T (p.Ser160=) c.312C>T (p.Ser104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490331C>A | CA381551498 | AIP | c.638C>A c.472C>A (p.Pro158Thr) n.1173C>A c.469-666C>A (n.469-666C>A) c.292C>A (p.Pro98Thr) c.661C>A (p.Pro221Thr) c.484C>A (p.Pro162Thr) c.481C>A (p.Pro161Thr) c.313C>A (p.Pro105Thr) | |
| 11 | g.67490331C= | CA1980172409 | AIP | c.638C= c.472C= (p.Pro158=) n.1173C= c.469-666C= (n.469-666C=) c.292C= (p.Pro98=) c.661C= (p.Pro221=) c.484C= (p.Pro162=) c.481C= (p.Pro161=) c.313C= (p.Pro105=) | |
| 11 | g.67490331C>G | CA381551497 | AIP | c.638C>G c.472C>G (p.Pro158Ala) n.1173C>G c.469-666C>G (n.469-666C>G) c.292C>G (p.Pro98Ala) c.661C>G (p.Pro221Ala) c.484C>G (p.Pro162Ala) c.481C>G (p.Pro161Ala) c.313C>G (p.Pro105Ala) | |
| 11 | g.67490331C>T | CA381551499 | AIP | c.638C>T c.472C>T (p.Pro158Ser) n.1173C>T c.469-666C>T (n.469-666C>T) c.292C>T (p.Pro98Ser) c.661C>T (p.Pro221Ser) c.484C>T (p.Pro162Ser) c.481C>T (p.Pro161Ser) c.313C>T (p.Pro105Ser) | ClinVar dbSNP |
| 11 | g.67490332C>A | CA381551500 | AIP | c.639C>A c.473C>A (p.Pro158His) n.1174C>A c.469-665C>A (n.469-665C>A) c.293C>A (p.Pro98His) c.662C>A (p.Pro221His) c.485C>A (p.Pro162His) c.482C>A (p.Pro161His) c.314C>A (p.Pro105His) | |
| 11 | g.67490332C= | CA1980172410 | AIP | c.639C= c.473C= (p.Pro158=) n.1174C= c.469-665C= (n.469-665C=) c.293C= (p.Pro98=) c.662C= (p.Pro221=) c.485C= (p.Pro162=) c.482C= (p.Pro161=) c.314C= (p.Pro105=) | |
| 11 | g.67490332C>G | CA381551501 | AIP | c.639C>G c.473C>G (p.Pro158Arg) n.1174C>G c.469-665C>G (n.469-665C>G) c.293C>G (p.Pro98Arg) c.662C>G (p.Pro221Arg) c.485C>G (p.Pro162Arg) c.482C>G (p.Pro161Arg) c.314C>G (p.Pro105Arg) | |
| 11 | g.67490332C>T | CA381551502 | AIP | c.639C>T c.473C>T (p.Pro158Leu) n.1174C>T c.469-665C>T (n.469-665C>T) c.293C>T (p.Pro98Leu) c.662C>T (p.Pro221Leu) c.485C>T (p.Pro162Leu) c.482C>T (p.Pro161Leu) c.314C>T (p.Pro105Leu) | ClinVar dbSNP gnomAD v2 |
| 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=) | ClinVar 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) | ClinVar 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 |