| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490053A>C | CA381550317 | AIP | c.461A>C c.295A>C (p.Thr99Pro) n.996A>C c.468+598A>C (n.468+598A>C) c.115A>C (p.Thr39Pro) c.484A>C (p.Thr162Pro) c.307A>C (p.Thr103Pro) c.304A>C (p.Thr102Pro) c.136A>C (p.Thr46Pro) | |
| 11 | g.67490053A>G | CA381550318 | AIP | c.461A>G c.295A>G (p.Thr99Ala) n.996A>G c.468+598A>G (n.468+598A>G) c.115A>G (p.Thr39Ala) c.484A>G (p.Thr162Ala) c.307A>G (p.Thr103Ala) c.304A>G (p.Thr102Ala) c.136A>G (p.Thr46Ala) | ClinVar gnomAD v4 |
| 11 | g.67490053A>T | CA381550319 | AIP | c.461A>T c.295A>T (p.Thr99Ser) n.996A>T c.468+598A>T (n.468+598A>T) c.115A>T (p.Thr39Ser) c.484A>T (p.Thr162Ser) c.307A>T (p.Thr103Ser) c.304A>T (p.Thr102Ser) c.136A>T (p.Thr46Ser) | |
| 11 | g.67490054C>A | CA381550320 | AIP | c.462C>A c.296C>A (p.Thr99Lys) n.997C>A c.468+599C>A (n.468+599C>A) c.116C>A (p.Thr39Lys) c.485C>A (p.Thr162Lys) c.308C>A (p.Thr103Lys) c.305C>A (p.Thr102Lys) c.137C>A (p.Thr46Lys) | dbSNP gnomAD v4 |
| 11 | g.67490054C= | CA1980172271 | AIP | c.462C= c.296C= (p.Thr99=) n.997C= c.468+599C= (n.468+599C=) c.116C= (p.Thr39=) c.485C= (p.Thr162=) c.308C= (p.Thr103=) c.305C= (p.Thr102=) c.137C= (p.Thr46=) | |
| 11 | g.67490054C>G | CA381550323 | AIP | c.462C>G c.296C>G (p.Thr99Arg) n.997C>G c.468+599C>G (n.468+599C>G) c.116C>G (p.Thr39Arg) c.485C>G (p.Thr162Arg) c.308C>G (p.Thr103Arg) c.305C>G (p.Thr102Arg) c.137C>G (p.Thr46Arg) | |
| 11 | g.67490054C>T | CA224164910 | AIP | c.462C>T c.296C>T (p.Thr99Met) n.997C>T c.468+599C>T (n.468+599C>T) c.116C>T (p.Thr39Met) c.485C>T (p.Thr162Met) c.308C>T (p.Thr103Met) c.305C>T (p.Thr102Met) c.137C>T (p.Thr46Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490055G>A | CA6140859 | AIP | c.463G>A c.297G>A (p.Thr99=) n.998G>A c.468+600G>A (n.468+600G>A) c.117G>A (p.Thr39=) c.486G>A (p.Thr162=) c.309G>A (p.Thr103=) c.306G>A (p.Thr102=) c.138G>A (p.Thr46=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490055G>C | CA475509131 | AIP | c.463G>C c.297G>C (p.Thr99=) n.998G>C c.468+600G>C (n.468+600G>C) c.117G>C (p.Thr39=) c.486G>C (p.Thr162=) c.309G>C (p.Thr103=) c.306G>C (p.Thr102=) c.138G>C (p.Thr46=) | ClinVar |
| 11 | g.67490055G= | CA1980172272 | AIP | c.463G= c.297G= (p.Thr99=) n.998G= c.468+600G= (n.468+600G=) c.117G= (p.Thr39=) c.486G= (p.Thr162=) c.309G= (p.Thr103=) c.306G= (p.Thr102=) c.138G= (p.Thr46=) | |
| 11 | g.67490055G>T | CA475509132 | AIP | c.463G>T c.297G>T (p.Thr99=) n.998G>T c.468+600G>T (n.468+600G>T) c.117G>T (p.Thr39=) c.486G>T (p.Thr162=) c.309G>T (p.Thr103=) c.306G>T (p.Thr102=) c.138G>T (p.Thr46=) | |
| 11 | g.67490056T>A | CA381550331 | AIP | c.464T>A c.298T>A (p.Tyr100Asn) n.999T>A c.468+601T>A (n.468+601T>A) c.118T>A (p.Tyr40Asn) c.487T>A (p.Tyr163Asn) c.310T>A (p.Tyr104Asn) c.307T>A (p.Tyr103Asn) c.139T>A (p.Tyr47Asn) | |
| 11 | g.67490056T>C | CA381550337 | AIP | c.464T>C c.298T>C (p.Tyr100His) n.999T>C c.468+601T>C (n.468+601T>C) c.118T>C (p.Tyr40His) c.487T>C (p.Tyr163His) c.310T>C (p.Tyr104His) c.307T>C (p.Tyr103His) c.139T>C (p.Tyr47His) | |
| 11 | g.67490056T>G | CA381550338 | AIP | c.464T>G c.298T>G (p.Tyr100Asp) n.999T>G c.468+601T>G (n.468+601T>G) c.118T>G (p.Tyr40Asp) c.487T>G (p.Tyr163Asp) c.310T>G (p.Tyr104Asp) c.307T>G (p.Tyr103Asp) c.139T>G (p.Tyr47Asp) | |
| 11 | g.67490056_67490065delinsTACCAGCAGG | CA1980172273 | AIP | c.464_473delinsTACCAGCAGG c.298_307delinsTACCAGCAGG (p.Tyr100=) n.999_1008delinsTACCAGCAGG c.468+601_468+610delinsTACCAGCAGG (n.468+601_468+610delinsTACCAGCAGG) c.118_127delinsTACCAGCAGG (p.Tyr40=) c.487_496delinsTACCAGCAGG (p.Tyr163=) c.310_319delinsTACCAGCAGG (p.Tyr104=) c.307_316delinsTACCAGCAGG (p.Tyr103=) c.139_148delinsTACCAGCAGG (p.Tyr47=) | |
| 11 | g.67490057A>C | CA381550342 | AIP | c.465A>C c.299A>C (p.Tyr100Ser) n.1000A>C c.468+602A>C (n.468+602A>C) c.119A>C (p.Tyr40Ser) c.488A>C (p.Tyr163Ser) c.311A>C (p.Tyr104Ser) c.308A>C (p.Tyr103Ser) c.140A>C (p.Tyr47Ser) | |
| 11 | g.67490057A>G | CA381550339 | AIP | c.465A>G c.299A>G (p.Tyr100Cys) n.1000A>G c.468+602A>G (n.468+602A>G) c.119A>G (p.Tyr40Cys) c.488A>G (p.Tyr163Cys) c.311A>G (p.Tyr104Cys) c.308A>G (p.Tyr103Cys) c.140A>G (p.Tyr47Cys) | |
| 11 | g.67490057A>T | CA381550341 | AIP | c.465A>T c.299A>T (p.Tyr100Phe) n.1000A>T c.468+602A>T (n.468+602A>T) c.119A>T (p.Tyr40Phe) c.488A>T (p.Tyr163Phe) c.311A>T (p.Tyr104Phe) c.308A>T (p.Tyr103Phe) c.140A>T (p.Tyr47Phe) | gnomAD v4 |
| 11 | g.67490060_67490068del | CA1980172274 | AIP | c.468_476del c.302_310del (p.Gln101_Asp103del) n.1003_1011del c.468+605_468+613del (n.468+605_468+613del) c.122_130del (p.Gln41_Asp43del) c.491_499del (p.Gln164_Asp166del) c.314_322del (p.Gln105_Asp107del) c.311_319del (p.Gln104_Asp106del) c.143_151del (p.Gln48_Asp50del) | dbSNP |
| 11 | g.67490058C>A | CA381550346 | AIP | c.466C>A c.300C>A (p.Tyr100Ter) n.1001C>A c.468+603C>A (n.468+603C>A) c.120C>A (p.Tyr40Ter) c.489C>A (p.Tyr163Ter) c.312C>A (p.Tyr104Ter) c.309C>A (p.Tyr103Ter) c.141C>A (p.Tyr47Ter) | |
| 11 | g.67490058C>G | CA381550353 | AIP | c.466C>G c.300C>G (p.Tyr100Ter) n.1001C>G c.468+603C>G (n.468+603C>G) c.120C>G (p.Tyr40Ter) c.489C>G (p.Tyr163Ter) c.312C>G (p.Tyr104Ter) c.309C>G (p.Tyr103Ter) c.141C>G (p.Tyr47Ter) | |
| 11 | g.67490058C>T | CA475509134 | AIP | c.466C>T c.300C>T (p.Tyr100=) n.1001C>T c.468+603C>T (n.468+603C>T) c.120C>T (p.Tyr40=) c.489C>T (p.Tyr163=) c.312C>T (p.Tyr104=) c.309C>T (p.Tyr103=) c.141C>T (p.Tyr47=) | ClinVar dbSNP |
| 11 | g.67490059C>A | CA381550364 | AIP | c.467C>A c.301C>A (p.Gln101Lys) n.1002C>A c.468+604C>A (n.468+604C>A) c.121C>A (p.Gln41Lys) c.490C>A (p.Gln164Lys) c.313C>A (p.Gln105Lys) c.310C>A (p.Gln104Lys) c.142C>A (p.Gln48Lys) | |
| 11 | g.67490059C= | CA1980172275 | AIP | c.467C= c.301C= (p.Gln101=) n.1002C= c.468+604C= (n.468+604C=) c.121C= (p.Gln41=) c.490C= (p.Gln164=) c.313C= (p.Gln105=) c.310C= (p.Gln104=) c.142C= (p.Gln48=) | |
| 11 | g.67490059C>G | CA381550365 | AIP | c.467C>G c.301C>G (p.Gln101Glu) n.1002C>G c.468+604C>G (n.468+604C>G) c.121C>G (p.Gln41Glu) c.490C>G (p.Gln164Glu) c.313C>G (p.Gln105Glu) c.310C>G (p.Gln104Glu) c.142C>G (p.Gln48Glu) | gnomAD v4 |
| 11 | g.67490059C>T | CA344120 | AIP | c.467C>T c.301C>T (p.Gln101Ter) n.1002C>T c.468+604C>T (n.468+604C>T) c.121C>T (p.Gln41Ter) c.490C>T (p.Gln164Ter) c.313C>T (p.Gln105Ter) c.310C>T (p.Gln104Ter) c.142C>T (p.Gln48Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490060A>C | CA381550371 | AIP | c.468A>C c.302A>C (p.Gln101Pro) n.1003A>C c.468+605A>C (n.468+605A>C) c.122A>C (p.Gln41Pro) c.491A>C (p.Gln164Pro) c.314A>C (p.Gln105Pro) c.311A>C (p.Gln104Pro) c.143A>C (p.Gln48Pro) | |
| 11 | g.67490060A>G | CA381550373 | AIP | c.468A>G c.302A>G (p.Gln101Arg) n.1003A>G c.468+605A>G (n.468+605A>G) c.122A>G (p.Gln41Arg) c.491A>G (p.Gln164Arg) c.314A>G (p.Gln105Arg) c.311A>G (p.Gln104Arg) c.143A>G (p.Gln48Arg) | |
| 11 | g.67490060A>T | CA381550375 | AIP | c.468A>T c.302A>T (p.Gln101Leu) n.1003A>T c.468+605A>T (n.468+605A>T) c.122A>T (p.Gln41Leu) c.491A>T (p.Gln164Leu) c.314A>T (p.Gln105Leu) c.311A>T (p.Gln104Leu) c.143A>T (p.Gln48Leu) | |
| 11 | g.67490061G>A | CA6140860 | AIP | c.469G>A c.303G>A (p.Gln101=) n.1004G>A c.468+606G>A (n.468+606G>A) c.123G>A (p.Gln41=) c.492G>A (p.Gln164=) c.315G>A (p.Gln105=) c.312G>A (p.Gln104=) c.144G>A (p.Gln48=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490061G>C | CA381550378 | AIP | c.469G>C c.303G>C (p.Gln101His) n.1004G>C c.468+606G>C (n.468+606G>C) c.123G>C (p.Gln41His) c.492G>C (p.Gln164His) c.315G>C (p.Gln105His) c.312G>C (p.Gln104His) c.144G>C (p.Gln48His) | |
| 11 | g.67490061G= | CA1980172276 | AIP | c.469G= c.303G= (p.Gln101=) n.1004G= c.468+606G= (n.468+606G=) c.123G= (p.Gln41=) c.492G= (p.Gln164=) c.315G= (p.Gln105=) c.312G= (p.Gln104=) c.144G= (p.Gln48=) | |
| 11 | g.67490061G>T | CA381550387 | AIP | c.469G>T c.303G>T (p.Gln101His) n.1004G>T c.468+606G>T (n.468+606G>T) c.123G>T (p.Gln41His) c.492G>T (p.Gln164His) c.315G>T (p.Gln105His) c.312G>T (p.Gln104His) c.144G>T (p.Gln48His) | |
| 11 | g.67490062C>A | CA381550395 | AIP | c.470C>A c.304C>A (p.Gln102Lys) n.1005C>A c.468+607C>A (n.468+607C>A) c.124C>A (p.Gln42Lys) c.493C>A (p.Gln165Lys) c.316C>A (p.Gln106Lys) c.313C>A (p.Gln105Lys) c.145C>A (p.Gln49Lys) | gnomAD v4 |
| 11 | g.67490062C>G | CA381550392 | AIP | c.470C>G c.304C>G (p.Gln102Glu) n.1005C>G c.468+607C>G (n.468+607C>G) c.124C>G (p.Gln42Glu) c.493C>G (p.Gln165Glu) c.316C>G (p.Gln106Glu) c.313C>G (p.Gln105Glu) c.145C>G (p.Gln49Glu) | |
| 11 | g.67490062C>T | CA381550390 | AIP | c.470C>T c.304C>T (p.Gln102Ter) n.1005C>T c.468+607C>T (n.468+607C>T) c.124C>T (p.Gln42Ter) c.493C>T (p.Gln165Ter) c.316C>T (p.Gln106Ter) c.313C>T (p.Gln105Ter) c.145C>T (p.Gln49Ter) | ClinVar |
| 11 | g.67490063A= | CA1980172277 | AIP | c.471A= c.305A= (p.Gln102=) n.1006A= c.468+608A= (n.468+608A=) c.125A= (p.Gln42=) c.494A= (p.Gln165=) c.317A= (p.Gln106=) c.314A= (p.Gln105=) c.146A= (p.Gln49=) | |
| 11 | g.67490063A>C | CA381550398 | AIP | c.471A>C c.305A>C (p.Gln102Pro) n.1006A>C c.468+608A>C (n.468+608A>C) c.125A>C (p.Gln42Pro) c.494A>C (p.Gln165Pro) c.317A>C (p.Gln106Pro) c.314A>C (p.Gln105Pro) c.146A>C (p.Gln49Pro) | |
| 11 | g.67490063A>G | CA381550400 | AIP | c.471A>G c.305A>G (p.Gln102Arg) n.1006A>G c.468+608A>G (n.468+608A>G) c.125A>G (p.Gln42Arg) c.494A>G (p.Gln165Arg) c.317A>G (p.Gln106Arg) c.314A>G (p.Gln105Arg) c.146A>G (p.Gln49Arg) | dbSNP |
| 11 | g.67490063A>T | CA381550402 | AIP | c.471A>T c.305A>T (p.Gln102Leu) n.1006A>T c.468+608A>T (n.468+608A>T) c.125A>T (p.Gln42Leu) c.494A>T (p.Gln165Leu) c.317A>T (p.Gln106Leu) c.314A>T (p.Gln105Leu) c.146A>T (p.Gln49Leu) | |
| 11 | g.67490064G>A | CA475509141 | AIP | c.472G>A c.306G>A (p.Gln102=) n.1007G>A c.468+609G>A (n.468+609G>A) c.126G>A (p.Gln42=) c.495G>A (p.Gln165=) c.318G>A (p.Gln106=) c.315G>A (p.Gln105=) c.147G>A (p.Gln49=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490064G>C | CA381550405 | AIP | c.472G>C c.306G>C (p.Gln102His) n.1007G>C c.468+609G>C (n.468+609G>C) c.126G>C (p.Gln42His) c.495G>C (p.Gln165His) c.318G>C (p.Gln106His) c.315G>C (p.Gln105His) c.147G>C (p.Gln49His) | |
| 11 | g.67490064G= | CA1980172278 | AIP | c.472G= c.306G= (p.Gln102=) n.1007G= c.468+609G= (n.468+609G=) c.126G= (p.Gln42=) c.495G= (p.Gln165=) c.318G= (p.Gln106=) c.315G= (p.Gln105=) c.147G= (p.Gln49=) | |
| 11 | g.67490064G>T | CA381550406 | AIP | c.472G>T c.306G>T (p.Gln102His) n.1007G>T c.468+609G>T (n.468+609G>T) c.126G>T (p.Gln42His) c.495G>T (p.Gln165His) c.318G>T (p.Gln106His) c.315G>T (p.Gln105His) c.147G>T (p.Gln49His) | |
| 11 | g.67490065G>A | CA381550411 | AIP | c.473G>A c.307G>A (p.Asp103Asn) n.1008G>A c.468+610G>A (n.468+610G>A) c.127G>A (p.Asp43Asn) c.496G>A (p.Asp166Asn) c.319G>A (p.Asp107Asn) c.316G>A (p.Asp106Asn) c.148G>A (p.Asp50Asn) | ClinVar gnomAD v4 |
| 11 | g.67490065G>C | CA381550413 | AIP | c.473G>C c.307G>C (p.Asp103His) n.1008G>C c.468+610G>C (n.468+610G>C) c.127G>C (p.Asp43His) c.496G>C (p.Asp166His) c.319G>C (p.Asp107His) c.316G>C (p.Asp106His) c.148G>C (p.Asp50His) | |
| 11 | g.67490065G>T | CA381550417 | AIP | c.473G>T c.307G>T (p.Asp103Tyr) n.1008G>T c.468+610G>T (n.468+610G>T) c.127G>T (p.Asp43Tyr) c.496G>T (p.Asp166Tyr) c.319G>T (p.Asp107Tyr) c.316G>T (p.Asp106Tyr) c.148G>T (p.Asp50Tyr) | |
| 11 | g.67490066A>C | CA381550422 | AIP | c.474A>C c.308A>C (p.Asp103Ala) n.1009A>C c.468+611A>C (n.468+611A>C) c.128A>C (p.Asp43Ala) c.497A>C (p.Asp166Ala) c.320A>C (p.Asp107Ala) c.317A>C (p.Asp106Ala) c.149A>C (p.Asp50Ala) | |
| 11 | g.67490066A>G | CA381550425 | AIP | c.474A>G c.308A>G (p.Asp103Gly) n.1009A>G c.468+611A>G (n.468+611A>G) c.128A>G (p.Asp43Gly) c.497A>G (p.Asp166Gly) c.320A>G (p.Asp107Gly) c.317A>G (p.Asp106Gly) c.149A>G (p.Asp50Gly) | |
| 11 | g.67490066A>T | CA381550429 | AIP | c.474A>T c.308A>T (p.Asp103Val) n.1009A>T c.468+611A>T (n.468+611A>T) c.128A>T (p.Asp43Val) c.497A>T (p.Asp166Val) c.320A>T (p.Asp107Val) c.317A>T (p.Asp106Val) c.149A>T (p.Asp50Val) | ClinVar dbSNP |