| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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 |
| 11 | g.67490066_67490067delinsAC | CA1980172279 | AIP | c.474_475delinsAC c.308_309delinsAC (p.Asp103=) n.1009_1010delinsAC c.468+611_468+612delinsAC (n.468+611_468+612delinsAC) c.128_129delinsAC (p.Asp43=) c.497_498delinsAC (p.Asp166=) c.320_321delinsAC (p.Asp107=) c.317_318delinsAC (p.Asp106=) c.149_150delinsAC (p.Asp50=) | |
| 11 | g.67490067C>A | CA381550435 | AIP | c.475C>A c.309C>A (p.Asp103Glu) n.1010C>A c.468+612C>A (n.468+612C>A) c.129C>A (p.Asp43Glu) c.498C>A (p.Asp166Glu) c.321C>A (p.Asp107Glu) c.318C>A (p.Asp106Glu) c.150C>A (p.Asp50Glu) | |
| 11 | g.67490067C>G | CA381550443 | AIP | c.475C>G c.309C>G (p.Asp103Glu) n.1010C>G c.468+612C>G (n.468+612C>G) c.129C>G (p.Asp43Glu) c.498C>G (p.Asp166Glu) c.321C>G (p.Asp107Glu) c.318C>G (p.Asp106Glu) c.150C>G (p.Asp50Glu) | |
| 11 | g.67490067C>T | CA475509145 | AIP | c.475C>T c.309C>T (p.Asp103=) n.1010C>T c.468+612C>T (n.468+612C>T) c.129C>T (p.Asp43=) c.498C>T (p.Asp166=) c.321C>T (p.Asp107=) c.318C>T (p.Asp106=) c.150C>T (p.Asp50=) | gnomAD v4 |
| 11 | g.67490069del | CA344124 | AIP | c.477del c.311del (p.Pro104HisfsTer4) n.1012del c.468+614del (n.468+614del) c.131del (p.Pro44HisfsTer4) c.500del (p.Pro167HisfsTer4) c.323del (p.Pro108HisfsTer4) c.320del (p.Pro107HisfsTer4) c.152del (p.Pro51HisfsTer4) | ClinVar dbSNP |
| 11 | g.67490068C>A | CA381550452 | AIP | c.476C>A c.310C>A (p.Pro104Thr) n.1011C>A c.468+613C>A (n.468+613C>A) c.130C>A (p.Pro44Thr) c.499C>A (p.Pro167Thr) c.322C>A (p.Pro108Thr) c.319C>A (p.Pro107Thr) c.151C>A (p.Pro51Thr) | |
| 11 | g.67490068C= | CA1980172280 | AIP | c.476C= c.310C= (p.Pro104=) n.1011C= c.468+613C= (n.468+613C=) c.130C= (p.Pro44=) c.499C= (p.Pro167=) c.322C= (p.Pro108=) c.319C= (p.Pro107=) c.151C= (p.Pro51=) | |
| 11 | g.67490068C>G | CA381550451 | AIP | c.476C>G c.310C>G (p.Pro104Ala) n.1011C>G c.468+613C>G (n.468+613C>G) c.130C>G (p.Pro44Ala) c.499C>G (p.Pro167Ala) c.322C>G (p.Pro108Ala) c.319C>G (p.Pro107Ala) c.151C>G (p.Pro51Ala) | |
| 11 | g.67490068C>T | CA381550450 | AIP | c.476C>T c.310C>T (p.Pro104Ser) n.1011C>T c.468+613C>T (n.468+613C>T) c.130C>T (p.Pro44Ser) c.499C>T (p.Pro167Ser) c.322C>T (p.Pro108Ser) c.319C>T (p.Pro107Ser) c.151C>T (p.Pro51Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490073_67490079del | CA2582341884 | AIP | c.481_487del c.315_321del (p.Trp105Ter) n.1016_1022del c.468+618_468+624del (n.468+618_468+624del) c.135_141del (p.Trp45Ter) c.504_510del (p.Trp168Ter) c.327_333del (p.Trp109Ter) c.324_330del (p.Trp108Ter) c.156_162del (p.Trp52Ter) | |
| 11 | g.67490069C>A | CA381550454 | AIP | c.477C>A c.311C>A (p.Pro104Gln) n.1012C>A c.468+614C>A (n.468+614C>A) c.131C>A (p.Pro44Gln) c.500C>A (p.Pro167Gln) c.323C>A (p.Pro108Gln) c.320C>A (p.Pro107Gln) c.152C>A (p.Pro51Gln) | |
| 11 | g.67490069C>G | CA381550456 | AIP | c.477C>G c.311C>G (p.Pro104Arg) n.1012C>G c.468+614C>G (n.468+614C>G) c.131C>G (p.Pro44Arg) c.500C>G (p.Pro167Arg) c.323C>G (p.Pro108Arg) c.320C>G (p.Pro107Arg) c.152C>G (p.Pro51Arg) | |
| 11 | g.67490069C>T | CA381550457 | AIP | c.477C>T c.311C>T (p.Pro104Leu) n.1012C>T c.468+614C>T (n.468+614C>T) c.131C>T (p.Pro44Leu) c.500C>T (p.Pro167Leu) c.323C>T (p.Pro108Leu) c.320C>T (p.Pro107Leu) c.152C>T (p.Pro51Leu) | gnomAD v4 |
| 11 | g.67490070A= | CA1980172281 | AIP | c.478A= c.312A= (p.Pro104=) n.1013A= c.468+615A= (n.468+615A=) c.132A= (p.Pro44=) c.501A= (p.Pro167=) c.324A= (p.Pro108=) c.321A= (p.Pro107=) c.153A= (p.Pro51=) | |
| 11 | g.67490070A>C | CA475509148 | AIP | c.478A>C c.312A>C (p.Pro104=) n.1013A>C c.468+615A>C (n.468+615A>C) c.132A>C (p.Pro44=) c.501A>C (p.Pro167=) c.324A>C (p.Pro108=) c.321A>C (p.Pro107=) c.153A>C (p.Pro51=) | ClinVar |
| 11 | g.67490070A>G | CA475509146 | AIP | c.478A>G c.312A>G (p.Pro104=) n.1013A>G c.468+615A>G (n.468+615A>G) c.132A>G (p.Pro44=) c.501A>G (p.Pro167=) c.324A>G (p.Pro108=) c.321A>G (p.Pro107=) c.153A>G (p.Pro51=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490070A>T | CA475509147 | AIP | c.478A>T c.312A>T (p.Pro104=) n.1013A>T c.468+615A>T (n.468+615A>T) c.132A>T (p.Pro44=) c.501A>T (p.Pro167=) c.324A>T (p.Pro108=) c.321A>T (p.Pro107=) c.153A>T (p.Pro51=) | |
| 11 | g.67490071T>A | CA381550458 | AIP | c.479T>A c.313T>A (p.Trp105Arg) n.1014T>A c.468+616T>A (n.468+616T>A) c.133T>A (p.Trp45Arg) c.502T>A (p.Trp168Arg) c.325T>A (p.Trp109Arg) c.322T>A (p.Trp108Arg) c.154T>A (p.Trp52Arg) | |
| 11 | g.67490071T>C | CA224164933 | AIP | c.479T>C c.313T>C (p.Trp105Arg) n.1014T>C c.468+616T>C (n.468+616T>C) c.133T>C (p.Trp45Arg) c.502T>C (p.Trp168Arg) c.325T>C (p.Trp109Arg) c.322T>C (p.Trp108Arg) c.154T>C (p.Trp52Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490071T>G | CA224164935 | AIP | c.479T>G c.313T>G (p.Trp105Gly) n.1014T>G c.468+616T>G (n.468+616T>G) c.133T>G (p.Trp45Gly) c.502T>G (p.Trp168Gly) c.325T>G (p.Trp109Gly) c.322T>G (p.Trp108Gly) c.154T>G (p.Trp52Gly) | ClinVar dbSNP |