UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | ClinVar |
| 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 |
| 11 | g.67490071T= | CA1980172282 | AIP | c.479T= c.313T= (p.Trp105=) n.1014T= c.468+616T= (n.468+616T=) c.133T= (p.Trp45=) c.502T= (p.Trp168=) c.325T= (p.Trp109=) c.322T= (p.Trp108=) c.154T= (p.Trp52=) | |
| 11 | g.67490072G>A | CA381550460 | AIP | c.480G>A c.314G>A (p.Trp105Ter) n.1015G>A c.468+617G>A (n.468+617G>A) c.134G>A (p.Trp45Ter) c.503G>A (p.Trp168Ter) c.326G>A (p.Trp109Ter) c.323G>A (p.Trp108Ter) c.155G>A (p.Trp52Ter) | |
| 11 | g.67490072G>C | CA381550461 | AIP | c.480G>C c.314G>C (p.Trp105Ser) n.1015G>C c.468+617G>C (n.468+617G>C) c.134G>C (p.Trp45Ser) c.503G>C (p.Trp168Ser) c.326G>C (p.Trp109Ser) c.323G>C (p.Trp108Ser) c.155G>C (p.Trp52Ser) | |
| 11 | g.67490072G>T | CA381550462 | AIP | c.480G>T c.314G>T (p.Trp105Leu) n.1015G>T c.468+617G>T (n.468+617G>T) c.134G>T (p.Trp45Leu) c.503G>T (p.Trp168Leu) c.326G>T (p.Trp109Leu) c.323G>T (p.Trp108Leu) c.155G>T (p.Trp52Leu) | |
| 11 | g.67490073G>A | CA381550463 | AIP | c.481G>A c.315G>A (p.Trp105Ter) n.1016G>A c.468+618G>A (n.468+618G>A) c.135G>A (p.Trp45Ter) c.504G>A (p.Trp168Ter) c.327G>A (p.Trp109Ter) c.324G>A (p.Trp108Ter) c.156G>A (p.Trp52Ter) | ClinVar dbSNP |
| 11 | g.67490073G>C | CA381550464 | AIP | c.481G>C c.315G>C (p.Trp105Cys) n.1016G>C c.468+618G>C (n.468+618G>C) c.135G>C (p.Trp45Cys) c.504G>C (p.Trp168Cys) c.327G>C (p.Trp109Cys) c.324G>C (p.Trp108Cys) c.156G>C (p.Trp52Cys) | |
| 11 | g.67490073G>T | CA381550465 | AIP | c.481G>T c.315G>T (p.Trp105Cys) n.1016G>T c.468+618G>T (n.468+618G>T) c.135G>T (p.Trp45Cys) c.504G>T (p.Trp168Cys) c.327G>T (p.Trp109Cys) c.324G>T (p.Trp108Cys) c.156G>T (p.Trp52Cys) | COSMIC |
| 11 | g.67490074G>A | CA381550471 | AIP | c.482G>A c.316G>A (p.Ala106Thr) n.1017G>A c.468+619G>A (n.468+619G>A) c.136G>A (p.Ala46Thr) c.505G>A (p.Ala169Thr) c.328G>A (p.Ala110Thr) c.325G>A (p.Ala109Thr) c.157G>A (p.Ala53Thr) | gnomAD v4 |
| 11 | g.67490074G>C | CA381550468 | AIP | c.482G>C c.316G>C (p.Ala106Pro) n.1017G>C c.468+619G>C (n.468+619G>C) c.136G>C (p.Ala46Pro) c.505G>C (p.Ala169Pro) c.328G>C (p.Ala110Pro) c.325G>C (p.Ala109Pro) c.157G>C (p.Ala53Pro) | |
| 11 | g.67490074G>T | CA381550470 | AIP | c.482G>T c.316G>T (p.Ala106Ser) n.1017G>T c.468+619G>T (n.468+619G>T) c.136G>T (p.Ala46Ser) c.505G>T (p.Ala169Ser) c.328G>T (p.Ala110Ser) c.325G>T (p.Ala109Ser) c.157G>T (p.Ala53Ser) | |
| 11 | g.67490075C>A | CA6140861 | AIP | c.483C>A c.317C>A (p.Ala106Asp) n.1018C>A c.468+620C>A (n.468+620C>A) c.137C>A (p.Ala46Asp) c.506C>A (p.Ala169Asp) c.329C>A (p.Ala110Asp) c.326C>A (p.Ala109Asp) c.158C>A (p.Ala53Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490075C= | CA1980172283 | AIP | c.483C= c.317C= (p.Ala106=) n.1018C= c.468+620C= (n.468+620C=) c.137C= (p.Ala46=) c.506C= (p.Ala169=) c.329C= (p.Ala110=) c.326C= (p.Ala109=) c.158C= (p.Ala53=) | |
| 11 | g.67490075C>G | CA381550476 | AIP | c.483C>G c.317C>G (p.Ala106Gly) n.1018C>G c.468+620C>G (n.468+620C>G) c.137C>G (p.Ala46Gly) c.506C>G (p.Ala169Gly) c.329C>G (p.Ala110Gly) c.326C>G (p.Ala109Gly) c.158C>G (p.Ala53Gly) | |
| 11 | g.67490075C>T | CA381550478 | AIP | c.483C>T c.317C>T (p.Ala106Val) n.1018C>T c.468+620C>T (n.468+620C>T) c.137C>T (p.Ala46Val) c.506C>T (p.Ala169Val) c.329C>T (p.Ala110Val) c.326C>T (p.Ala109Val) c.158C>T (p.Ala53Val) | |
| 11 | g.67490076C>A | CA475509149 | AIP | c.484C>A c.318C>A (p.Ala106=) n.1019C>A c.468+621C>A (n.468+621C>A) c.138C>A (p.Ala46=) c.507C>A (p.Ala169=) c.330C>A (p.Ala110=) c.327C>A (p.Ala109=) c.159C>A (p.Ala53=) | |
| 11 | g.67490076C>G | CA475509151 | AIP | c.484C>G c.318C>G (p.Ala106=) n.1019C>G c.468+621C>G (n.468+621C>G) c.138C>G (p.Ala46=) c.507C>G (p.Ala169=) c.330C>G (p.Ala110=) c.327C>G (p.Ala109=) c.159C>G (p.Ala53=) | |
| 11 | g.67490076C>T | CA475509150 | AIP | c.484C>T c.318C>T (p.Ala106=) n.1019C>T c.468+621C>T (n.468+621C>T) c.138C>T (p.Ala46=) c.507C>T (p.Ala169=) c.330C>T (p.Ala110=) c.327C>T (p.Ala109=) c.159C>T (p.Ala53=) | |
| 11 | g.67490077A>C | CA381550480 | AIP | c.485A>C c.319A>C (p.Met107Leu) n.1020A>C c.468+622A>C (n.468+622A>C) c.139A>C (p.Met47Leu) c.508A>C (p.Met170Leu) c.331A>C (p.Met111Leu) c.328A>C (p.Met110Leu) c.160A>C (p.Met54Leu) | |
| 11 | g.67490077A>G | CA381550482 | AIP | c.485A>G c.319A>G (p.Met107Val) n.1020A>G c.468+622A>G (n.468+622A>G) c.139A>G (p.Met47Val) c.508A>G (p.Met170Val) c.331A>G (p.Met111Val) c.328A>G (p.Met110Val) c.160A>G (p.Met54Val) | gnomAD v4 |
| 11 | g.67490077A>T | CA381550484 | AIP | c.485A>T c.319A>T (p.Met107Leu) n.1020A>T c.468+622A>T (n.468+622A>T) c.139A>T (p.Met47Leu) c.508A>T (p.Met170Leu) c.331A>T (p.Met111Leu) c.328A>T (p.Met110Leu) c.160A>T (p.Met54Leu) | |
| 11 | g.67490078T>A | CA381550489 | AIP | c.486T>A c.320T>A (p.Met107Lys) n.1021T>A c.468+623T>A (n.468+623T>A) c.140T>A (p.Met47Lys) c.509T>A (p.Met170Lys) c.332T>A (p.Met111Lys) c.329T>A (p.Met110Lys) c.161T>A (p.Met54Lys) | |
| 11 | g.67490078T>C | CA381550491 | AIP | c.486T>C c.320T>C (p.Met107Thr) n.1021T>C c.468+623T>C (n.468+623T>C) c.140T>C (p.Met47Thr) c.509T>C (p.Met170Thr) c.332T>C (p.Met111Thr) c.329T>C (p.Met110Thr) c.161T>C (p.Met54Thr) | |
| 11 | g.67490078T>G | CA381550493 | AIP | c.486T>G c.320T>G (p.Met107Arg) n.1021T>G c.468+623T>G (n.468+623T>G) c.140T>G (p.Met47Arg) c.509T>G (p.Met170Arg) c.332T>G (p.Met111Arg) c.329T>G (p.Met110Arg) c.161T>G (p.Met54Arg) | |
| 11 | g.67490079G>A | CA381550500 | AIP | c.487G>A c.321G>A (p.Met107Ile) n.1022G>A c.468+624G>A (n.468+624G>A) c.141G>A (p.Met47Ile) c.510G>A (p.Met170Ile) c.333G>A (p.Met111Ile) c.330G>A (p.Met110Ile) c.162G>A (p.Met54Ile) | ClinVar gnomAD v4 |
| 11 | g.67490079G>C | CA381550501 | AIP | c.487G>C c.321G>C (p.Met107Ile) n.1022G>C c.468+624G>C (n.468+624G>C) c.141G>C (p.Met47Ile) c.510G>C (p.Met170Ile) c.333G>C (p.Met111Ile) c.330G>C (p.Met110Ile) c.162G>C (p.Met54Ile) | |
| 11 | g.67490079G>T | CA381550503 | AIP | c.487G>T c.321G>T (p.Met107Ile) n.1022G>T c.468+624G>T (n.468+624G>T) c.141G>T (p.Met47Ile) c.510G>T (p.Met170Ile) c.333G>T (p.Met111Ile) c.330G>T (p.Met110Ile) c.162G>T (p.Met54Ile) | |
| 11 | g.67490080A>C | CA381550508 | AIP | c.488A>C c.322A>C (p.Thr108Pro) n.1023A>C c.468+625A>C (n.468+625A>C) c.142A>C (p.Thr48Pro) c.511A>C (p.Thr171Pro) c.334A>C (p.Thr112Pro) c.331A>C (p.Thr111Pro) c.163A>C (p.Thr55Pro) | |
| 11 | g.67490080A>G | CA381550507 | AIP | c.488A>G c.322A>G (p.Thr108Ala) n.1023A>G c.468+625A>G (n.468+625A>G) c.142A>G (p.Thr48Ala) c.511A>G (p.Thr171Ala) c.334A>G (p.Thr112Ala) c.331A>G (p.Thr111Ala) c.163A>G (p.Thr55Ala) | ClinVar dbSNP |
| 11 | g.67490080A>T | CA381550505 | AIP | c.488A>T c.322A>T (p.Thr108Ser) n.1023A>T c.468+625A>T (n.468+625A>T) c.142A>T (p.Thr48Ser) c.511A>T (p.Thr171Ser) c.334A>T (p.Thr112Ser) c.331A>T (p.Thr111Ser) c.163A>T (p.Thr55Ser) | |
| 11 | g.67490081C>A | CA381550511 | AIP | c.489C>A c.323C>A (p.Thr108Lys) n.1024C>A c.468+626C>A (n.468+626C>A) c.143C>A (p.Thr48Lys) c.512C>A (p.Thr171Lys) c.335C>A (p.Thr112Lys) c.332C>A (p.Thr111Lys) c.164C>A (p.Thr55Lys) | |
| 11 | g.67490081C= | CA1980172284 | AIP | c.489C= c.323C= (p.Thr108=) n.1024C= c.468+626C= (n.468+626C=) c.143C= (p.Thr48=) c.512C= (p.Thr171=) c.335C= (p.Thr112=) c.332C= (p.Thr111=) c.164C= (p.Thr55=) | |
| 11 | g.67490081C>G | CA381550513 | AIP | c.489C>G c.323C>G (p.Thr108Arg) n.1024C>G c.468+626C>G (n.468+626C>G) c.143C>G (p.Thr48Arg) c.512C>G (p.Thr171Arg) c.335C>G (p.Thr112Arg) c.332C>G (p.Thr111Arg) c.164C>G (p.Thr55Arg) | ClinVar |
| 11 | g.67490081C>T | CA381550514 | AIP | c.489C>T c.323C>T (p.Thr108Ile) n.1024C>T c.468+626C>T (n.468+626C>T) c.143C>T (p.Thr48Ile) c.512C>T (p.Thr171Ile) c.335C>T (p.Thr112Ile) c.332C>T (p.Thr111Ile) c.164C>T (p.Thr55Ile) | ClinVar dbSNP |
| 11 | g.67490082A= | CA1980172285 | AIP | c.490A= c.324A= (p.Thr108=) n.1025A= c.468+627A= (n.468+627A=) c.144A= (p.Thr48=) c.513A= (p.Thr171=) c.336A= (p.Thr112=) c.333A= (p.Thr111=) c.165A= (p.Thr55=) | |
| 11 | g.67490082A>C | CA475509153 | AIP | c.490A>C c.324A>C (p.Thr108=) n.1025A>C c.468+627A>C (n.468+627A>C) c.144A>C (p.Thr48=) c.513A>C (p.Thr171=) c.336A>C (p.Thr112=) c.333A>C (p.Thr111=) c.165A>C (p.Thr55=) | |
| 11 | g.67490082A>G | CA475509154 | AIP | c.490A>G c.324A>G (p.Thr108=) n.1025A>G c.468+627A>G (n.468+627A>G) c.144A>G (p.Thr48=) c.513A>G (p.Thr171=) c.336A>G (p.Thr112=) c.333A>G (p.Thr111=) c.165A>G (p.Thr55=) | ClinVar dbSNP gnomAD v2 |
| 11 | g.67490082A>T | CA475509155 | AIP | c.490A>T c.324A>T (p.Thr108=) n.1025A>T c.468+627A>T (n.468+627A>T) c.144A>T (p.Thr48=) c.513A>T (p.Thr171=) c.336A>T (p.Thr112=) c.333A>T (p.Thr111=) c.165A>T (p.Thr55=) | |
| 11 | g.67490083_67490084del | CA2561363674 | AIP | c.491_492del c.325_326del (p.Asp109ArgfsTer?) n.1026_1027del c.468+628_468+629del (n.468+628_468+629del) c.145_146del (p.Asp49ArgfsTer?) c.514_515del (p.Asp172ArgfsTer?) c.337_338del (p.Asp113ArgfsTer?) c.334_335del (p.Asp112ArgfsTer?) c.166_167del (p.Asp56ArgfsTer?) | |
| 11 | g.67490083G>A | CA381550517 | AIP | c.491G>A c.325G>A (p.Asp109Asn) n.1026G>A c.468+628G>A (n.468+628G>A) c.145G>A (p.Asp49Asn) c.514G>A (p.Asp172Asn) c.337G>A (p.Asp113Asn) c.334G>A (p.Asp112Asn) c.166G>A (p.Asp56Asn) | |
| 11 | g.67490083G>C | CA381550520 | AIP | c.491G>C c.325G>C (p.Asp109His) n.1026G>C c.468+628G>C (n.468+628G>C) c.145G>C (p.Asp49His) c.514G>C (p.Asp172His) c.337G>C (p.Asp113His) c.334G>C (p.Asp112His) c.166G>C (p.Asp56His) | |
| 11 | g.67490083G= | CA1980172286 | AIP | c.491G= c.325G= (p.Asp109=) n.1026G= c.468+628G= (n.468+628G=) c.145G= (p.Asp49=) c.514G= (p.Asp172=) c.337G= (p.Asp113=) c.334G= (p.Asp112=) c.166G= (p.Asp56=) | |
| 11 | g.67490083G>T | CA381550524 | AIP | c.491G>T c.325G>T (p.Asp109Tyr) n.1026G>T c.468+628G>T (n.468+628G>T) c.145G>T (p.Asp49Tyr) c.514G>T (p.Asp172Tyr) c.337G>T (p.Asp113Tyr) c.334G>T (p.Asp112Tyr) c.166G>T (p.Asp56Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490084A>C | CA381550527 | AIP | c.492A>C c.326A>C (p.Asp109Ala) n.1027A>C c.468+629A>C (n.468+629A>C) c.146A>C (p.Asp49Ala) c.515A>C (p.Asp172Ala) c.338A>C (p.Asp113Ala) c.335A>C (p.Asp112Ala) c.167A>C (p.Asp56Ala) | |
| 11 | g.67490084A>G | CA381550528 | AIP | c.492A>G c.326A>G (p.Asp109Gly) n.1027A>G c.468+629A>G (n.468+629A>G) c.146A>G (p.Asp49Gly) c.515A>G (p.Asp172Gly) c.338A>G (p.Asp113Gly) c.335A>G (p.Asp112Gly) c.167A>G (p.Asp56Gly) | gnomAD v4 |
| 11 | g.67490084A>T | CA381550533 | AIP | c.492A>T c.326A>T (p.Asp109Val) n.1027A>T c.468+629A>T (n.468+629A>T) c.146A>T (p.Asp49Val) c.515A>T (p.Asp172Val) c.338A>T (p.Asp113Val) c.335A>T (p.Asp112Val) c.167A>T (p.Asp56Val) | |
| 11 | g.67490085C>A | CA381550536 | AIP | c.493C>A c.327C>A (p.Asp109Glu) n.1028C>A c.468+630C>A (n.468+630C>A) c.147C>A (p.Asp49Glu) c.516C>A (p.Asp172Glu) c.339C>A (p.Asp113Glu) c.336C>A (p.Asp112Glu) c.168C>A (p.Asp56Glu) | |
| 11 | g.67490085C= | CA1980172287 | AIP | c.493C= c.327C= (p.Asp109=) n.1028C= c.468+630C= (n.468+630C=) c.147C= (p.Asp49=) c.516C= (p.Asp172=) c.339C= (p.Asp113=) c.336C= (p.Asp112=) c.168C= (p.Asp56=) | |
| 11 | g.67490085C>G | CA224164938 | AIP | c.493C>G c.327C>G (p.Asp109Glu) n.1028C>G c.468+630C>G (n.468+630C>G) c.147C>G (p.Asp49Glu) c.516C>G (p.Asp172Glu) c.339C>G (p.Asp113Glu) c.336C>G (p.Asp112Glu) c.168C>G (p.Asp56Glu) | dbSNP gnomAD v4 |
| 11 | g.67490085C>T | CA6140862 | AIP | c.493C>T c.327C>T (p.Asp109=) n.1028C>T c.468+630C>T (n.468+630C>T) c.147C>T (p.Asp49=) c.516C>T (p.Asp172=) c.339C>T (p.Asp113=) c.336C>T (p.Asp112=) c.168C>T (p.Asp56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490085_67490090delinsCGAAGA | CA1980172288 | AIP | c.493_498delinsCGAAGA c.327_332delinsCGAAGA (p.Asp109=) n.1028_1033delinsCGAAGA c.468+630_468+635delinsCGAAGA (n.468+630_468+635delinsCGAAGA) c.147_152delinsCGAAGA (p.Asp49=) c.516_521delinsCGAAGA (p.Asp172=) c.339_344delinsCGAAGA (p.Asp113=) c.336_341delinsCGAAGA (p.Asp112=) c.168_173delinsCGAAGA (p.Asp56=) | |
| 11 | g.67490086G>A | CA6140863 | AIP | c.494G>A c.328G>A (p.Glu110Lys) n.1029G>A c.468+631G>A (n.468+631G>A) c.148G>A (p.Glu50Lys) c.517G>A (p.Glu173Lys) c.340G>A (p.Glu114Lys) c.337G>A (p.Glu113Lys) c.169G>A (p.Glu57Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490086G>C | CA381550544 | AIP | c.494G>C c.328G>C (p.Glu110Gln) n.1029G>C c.468+631G>C (n.468+631G>C) c.148G>C (p.Glu50Gln) c.517G>C (p.Glu173Gln) c.340G>C (p.Glu114Gln) c.337G>C (p.Glu113Gln) c.169G>C (p.Glu57Gln) | |
| 11 | g.67490086G= | CA1980172289 | AIP | c.494G= c.328G= (p.Glu110=) n.1029G= c.468+631G= (n.468+631G=) c.148G= (p.Glu50=) c.517G= (p.Glu173=) c.340G= (p.Glu114=) c.337G= (p.Glu113=) c.169G= (p.Glu57=) | |
| 11 | g.67490086G>T | CA381550540 | AIP | c.494G>T c.328G>T (p.Glu110Ter) n.1029G>T c.468+631G>T (n.468+631G>T) c.148G>T (p.Glu50Ter) c.517G>T (p.Glu173Ter) c.340G>T (p.Glu114Ter) c.337G>T (p.Glu113Ter) c.169G>T (p.Glu57Ter) | |
| 11 | g.67490090_67490094del | CA344125 | AIP | c.498_502del c.332_336del (p.Glu111GlyfsTer?) n.1033_1037del c.468+635_468+639del (n.468+635_468+639del) c.152_156del (p.Glu51GlyfsTer?) c.521_525del (p.Glu174GlyfsTer?) c.344_348del (p.Glu115GlyfsTer?) c.341_345del (p.Glu114GlyfsTer?) c.173_177del (p.Glu58GlyfsTer?) | ClinVar dbSNP |
| 11 | g.67490087A>C | CA381550552 | AIP | c.495A>C c.329A>C (p.Glu110Ala) n.1030A>C c.468+632A>C (n.468+632A>C) c.149A>C (p.Glu50Ala) c.518A>C (p.Glu173Ala) c.341A>C (p.Glu114Ala) c.338A>C (p.Glu113Ala) c.170A>C (p.Glu57Ala) | |
| 11 | g.67490087A>G | CA381550547 | AIP | c.495A>G c.329A>G (p.Glu110Gly) n.1030A>G c.468+632A>G (n.468+632A>G) c.149A>G (p.Glu50Gly) c.518A>G (p.Glu173Gly) c.341A>G (p.Glu114Gly) c.338A>G (p.Glu113Gly) c.170A>G (p.Glu57Gly) | |
| 11 | g.67490087A>T | CA381550550 | AIP | c.495A>T c.329A>T (p.Glu110Val) n.1030A>T c.468+632A>T (n.468+632A>T) c.149A>T (p.Glu50Val) c.518A>T (p.Glu173Val) c.341A>T (p.Glu114Val) c.338A>T (p.Glu113Val) c.170A>T (p.Glu57Val) | |
| 11 | g.67490088A= | CA1980172290 | AIP | c.496A= c.330A= (p.Glu110=) n.1031A= c.468+633A= (n.468+633A=) c.150A= (p.Glu50=) c.519A= (p.Glu173=) c.342A= (p.Glu114=) c.339A= (p.Glu113=) c.171A= (p.Glu57=) | |
| 11 | g.67490088A>C | CA381550553 | AIP | c.496A>C c.330A>C (p.Glu110Asp) n.1031A>C c.468+633A>C (n.468+633A>C) c.150A>C (p.Glu50Asp) c.519A>C (p.Glu173Asp) c.342A>C (p.Glu114Asp) c.339A>C (p.Glu113Asp) c.171A>C (p.Glu57Asp) | gnomAD v4 |
| 11 | g.67490088A>G | CA475509156 | AIP | c.496A>G c.330A>G (p.Glu110=) n.1031A>G c.468+633A>G (n.468+633A>G) c.150A>G (p.Glu50=) c.519A>G (p.Glu173=) c.342A>G (p.Glu114=) c.339A>G (p.Glu113=) c.171A>G (p.Glu57=) | ClinVar |
| 11 | g.67490088A>T | CA381550554 | AIP | c.496A>T c.330A>T (p.Glu110Asp) n.1031A>T c.468+633A>T (n.468+633A>T) c.150A>T (p.Glu50Asp) c.519A>T (p.Glu173Asp) c.342A>T (p.Glu114Asp) c.339A>T (p.Glu113Asp) c.171A>T (p.Glu57Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490089G>A | CA381550555 | AIP | c.497G>A c.331G>A (p.Glu111Lys) n.1032G>A c.468+634G>A (n.468+634G>A) c.151G>A (p.Glu51Lys) c.520G>A (p.Glu174Lys) c.343G>A (p.Glu115Lys) c.340G>A (p.Glu114Lys) c.172G>A (p.Glu58Lys) | |
| 11 | g.67490089G>C | CA381550556 | AIP | c.497G>C c.331G>C (p.Glu111Gln) n.1032G>C c.468+634G>C (n.468+634G>C) c.151G>C (p.Glu51Gln) c.520G>C (p.Glu174Gln) c.343G>C (p.Glu115Gln) c.340G>C (p.Glu114Gln) c.172G>C (p.Glu58Gln) | ClinVar dbSNP |
| 11 | g.67490089G= | CA1980172291 | AIP | c.497G= c.331G= (p.Glu111=) n.1032G= c.468+634G= (n.468+634G=) c.151G= (p.Glu51=) c.520G= (p.Glu174=) c.343G= (p.Glu115=) c.340G= (p.Glu114=) c.172G= (p.Glu58=) | |
| 11 | g.67490089G>T | CA381550558 | AIP | c.497G>T c.331G>T (p.Glu111Ter) n.1032G>T c.468+634G>T (n.468+634G>T) c.151G>T (p.Glu51Ter) c.520G>T (p.Glu174Ter) c.343G>T (p.Glu115Ter) c.340G>T (p.Glu114Ter) c.172G>T (p.Glu58Ter) | |
| 11 | g.67490090A>C | CA381550563 | AIP | c.498A>C c.332A>C (p.Glu111Ala) n.1033A>C c.468+635A>C (n.468+635A>C) c.152A>C (p.Glu51Ala) c.521A>C (p.Glu174Ala) c.344A>C (p.Glu115Ala) c.341A>C (p.Glu114Ala) c.173A>C (p.Glu58Ala) | |
| 11 | g.67490090A>G | CA381550566 | AIP | c.498A>G c.332A>G (p.Glu111Gly) n.1033A>G c.468+635A>G (n.468+635A>G) c.152A>G (p.Glu51Gly) c.521A>G (p.Glu174Gly) c.344A>G (p.Glu115Gly) c.341A>G (p.Glu114Gly) c.173A>G (p.Glu58Gly) | |
| 11 | g.67490090A>T | CA381550567 | AIP | c.498A>T c.332A>T (p.Glu111Val) n.1033A>T c.468+635A>T (n.468+635A>T) c.152A>T (p.Glu51Val) c.521A>T (p.Glu174Val) c.344A>T (p.Glu115Val) c.341A>T (p.Glu114Val) c.173A>T (p.Glu58Val) | |
| 11 | g.67490091G>A | CA6140864 | AIP | c.499G>A c.333G>A (p.Glu111=) n.1034G>A c.468+636G>A (n.468+636G>A) c.153G>A (p.Glu51=) c.522G>A (p.Glu174=) c.345G>A (p.Glu115=) c.342G>A (p.Glu114=) c.174G>A (p.Glu58=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490091G>C | CA381550571 | AIP | c.499G>C c.333G>C (p.Glu111Asp) n.1034G>C c.468+636G>C (n.468+636G>C) c.153G>C (p.Glu51Asp) c.522G>C (p.Glu174Asp) c.345G>C (p.Glu115Asp) c.342G>C (p.Glu114Asp) c.174G>C (p.Glu58Asp) | |
| 11 | g.67490091G= | CA1980172292 | AIP | c.499G= c.333G= (p.Glu111=) n.1034G= c.468+636G= (n.468+636G=) c.153G= (p.Glu51=) c.522G= (p.Glu174=) c.345G= (p.Glu115=) c.342G= (p.Glu114=) c.174G= (p.Glu58=) | |
| 11 | g.67490091G>T | CA381550574 | AIP | c.499G>T c.333G>T (p.Glu111Asp) n.1034G>T c.468+636G>T (n.468+636G>T) c.153G>T (p.Glu51Asp) c.522G>T (p.Glu174Asp) c.345G>T (p.Glu115Asp) c.342G>T (p.Glu114Asp) c.174G>T (p.Glu58Asp) | |
| 11 | g.67490092A>C | CA381550580 | AIP | c.500A>C c.334A>C (p.Lys112Gln) n.1035A>C c.468+637A>C (n.468+637A>C) c.154A>C (p.Lys52Gln) c.523A>C (p.Lys175Gln) c.346A>C (p.Lys116Gln) c.343A>C (p.Lys115Gln) c.175A>C (p.Lys59Gln) | ClinVar gnomAD v4 |
| 11 | g.67490092A>G | CA381550584 | AIP | c.500A>G c.334A>G (p.Lys112Glu) n.1035A>G c.468+637A>G (n.468+637A>G) c.154A>G (p.Lys52Glu) c.523A>G (p.Lys175Glu) c.346A>G (p.Lys116Glu) c.343A>G (p.Lys115Glu) c.175A>G (p.Lys59Glu) | |
| 11 | g.67490092A>T | CA381550582 | AIP | c.500A>T c.334A>T (p.Lys112Ter) n.1035A>T c.468+637A>T (n.468+637A>T) c.154A>T (p.Lys52Ter) c.523A>T (p.Lys175Ter) c.346A>T (p.Lys116Ter) c.343A>T (p.Lys115Ter) c.175A>T (p.Lys59Ter) | |
| 11 | g.67490093A>C | CA381550588 | AIP | c.501A>C c.335A>C (p.Lys112Thr) n.1036A>C c.468+638A>C (n.468+638A>C) c.155A>C (p.Lys52Thr) c.524A>C (p.Lys175Thr) c.347A>C (p.Lys116Thr) c.344A>C (p.Lys115Thr) c.176A>C (p.Lys59Thr) | |
| 11 | g.67490093A>G | CA381550590 | AIP | c.501A>G c.335A>G (p.Lys112Arg) n.1036A>G c.468+638A>G (n.468+638A>G) c.155A>G (p.Lys52Arg) c.524A>G (p.Lys175Arg) c.347A>G (p.Lys116Arg) c.344A>G (p.Lys115Arg) c.176A>G (p.Lys59Arg) | |
| 11 | g.67490093A>T | CA381550594 | AIP | c.501A>T c.335A>T (p.Lys112Met) n.1036A>T c.468+638A>T (n.468+638A>T) c.155A>T (p.Lys52Met) c.524A>T (p.Lys175Met) c.347A>T (p.Lys116Met) c.344A>T (p.Lys115Met) c.176A>T (p.Lys59Met) | gnomAD v4 |
| 11 | g.67490094G>A | CA475509157 | AIP | c.502G>A c.336G>A (p.Lys112=) n.1037G>A c.468+639G>A (n.468+639G>A) c.156G>A (p.Lys52=) c.525G>A (p.Lys175=) c.348G>A (p.Lys116=) c.345G>A (p.Lys115=) c.177G>A (p.Lys59=) | ClinVar |
| 11 | g.67490094G>C | CA381550596 | AIP | c.502G>C c.336G>C (p.Lys112Asn) n.1037G>C c.468+639G>C (n.468+639G>C) c.156G>C (p.Lys52Asn) c.525G>C (p.Lys175Asn) c.348G>C (p.Lys116Asn) c.345G>C (p.Lys115Asn) c.177G>C (p.Lys59Asn) | |
| 11 | g.67490094G>T | CA381550599 | AIP | c.502G>T c.336G>T (p.Lys112Asn) n.1037G>T c.468+639G>T (n.468+639G>T) c.156G>T (p.Lys52Asn) c.525G>T (p.Lys175Asn) c.348G>T (p.Lys116Asn) c.345G>T (p.Lys115Asn) c.177G>T (p.Lys59Asn) | |
| 11 | g.67490095G>A | CA381550601 | AIP | c.503G>A c.337G>A (p.Ala113Thr) n.1038G>A c.468+640G>A (n.468+640G>A) c.157G>A (p.Ala53Thr) c.526G>A (p.Ala176Thr) c.349G>A (p.Ala117Thr) c.346G>A (p.Ala116Thr) c.178G>A (p.Ala60Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490095G>C | CA381550604 | AIP | c.503G>C c.337G>C (p.Ala113Pro) n.1038G>C c.468+640G>C (n.468+640G>C) c.157G>C (p.Ala53Pro) c.526G>C (p.Ala176Pro) c.349G>C (p.Ala117Pro) c.346G>C (p.Ala116Pro) c.178G>C (p.Ala60Pro) | |
| 11 | g.67490095G= | CA1980172293 | AIP | c.503G= c.337G= (p.Ala113=) n.1038G= c.468+640G= (n.468+640G=) c.157G= (p.Ala53=) c.526G= (p.Ala176=) c.349G= (p.Ala117=) c.346G= (p.Ala116=) c.178G= (p.Ala60=) | |
| 11 | g.67490095G>T | CA381550606 | AIP | c.503G>T c.337G>T (p.Ala113Ser) n.1038G>T c.468+640G>T (n.468+640G>T) c.157G>T (p.Ala53Ser) c.526G>T (p.Ala176Ser) c.349G>T (p.Ala117Ser) c.346G>T (p.Ala116Ser) c.178G>T (p.Ala60Ser) | |
| 11 | g.67490096C>A | CA381550609 | AIP | c.504C>A c.338C>A (p.Ala113Glu) n.1039C>A c.468+641C>A (n.468+641C>A) c.158C>A (p.Ala53Glu) c.527C>A (p.Ala176Glu) c.350C>A (p.Ala117Glu) c.347C>A (p.Ala116Glu) c.179C>A (p.Ala60Glu) | |
| 11 | g.67490096C>G | CA381550611 | AIP | c.504C>G c.338C>G (p.Ala113Gly) n.1039C>G c.468+641C>G (n.468+641C>G) c.158C>G (p.Ala53Gly) c.527C>G (p.Ala176Gly) c.350C>G (p.Ala117Gly) c.347C>G (p.Ala116Gly) c.179C>G (p.Ala60Gly) | |
| 11 | g.67490096C>T | CA381550615 | AIP | c.504C>T c.338C>T (p.Ala113Val) n.1039C>T c.468+641C>T (n.468+641C>T) c.158C>T (p.Ala53Val) c.527C>T (p.Ala176Val) c.350C>T (p.Ala117Val) c.347C>T (p.Ala116Val) c.179C>T (p.Ala60Val) | gnomAD v4 |
| 11 | g.67490097A>C | CA475509160 | AIP | c.505A>C c.339A>C (p.Ala113=) n.1040A>C c.468+642A>C (n.468+642A>C) c.159A>C (p.Ala53=) c.528A>C (p.Ala176=) c.351A>C (p.Ala117=) c.348A>C (p.Ala116=) c.180A>C (p.Ala60=) | |
| 11 | g.67490097A>G | CA475509159 | AIP | c.505A>G c.339A>G (p.Ala113=) n.1040A>G c.468+642A>G (n.468+642A>G) c.159A>G (p.Ala53=) c.528A>G (p.Ala176=) c.351A>G (p.Ala117=) c.348A>G (p.Ala116=) c.180A>G (p.Ala60=) | |
| 11 | g.67490097A>T | CA475509158 | AIP | c.505A>T c.339A>T (p.Ala113=) n.1040A>T c.468+642A>T (n.468+642A>T) c.159A>T (p.Ala53=) c.528A>T (p.Ala176=) c.351A>T (p.Ala117=) c.348A>T (p.Ala116=) c.180A>T (p.Ala60=) | ClinVar |
| 11 | g.67490098A>C | CA381550622 | AIP | c.506A>C c.340A>C (p.Lys114Gln) n.1041A>C c.468+643A>C (n.468+643A>C) c.160A>C (p.Lys54Gln) c.529A>C (p.Lys177Gln) c.352A>C (p.Lys118Gln) c.349A>C (p.Lys117Gln) c.181A>C (p.Lys61Gln) | |
| 11 | g.67490098A>G | CA381550626 | AIP | c.506A>G c.340A>G (p.Lys114Glu) n.1041A>G c.468+643A>G (n.468+643A>G) c.160A>G (p.Lys54Glu) c.529A>G (p.Lys177Glu) c.352A>G (p.Lys118Glu) c.349A>G (p.Lys117Glu) c.181A>G (p.Lys61Glu) | |
| 11 | g.67490098A>T | CA381550620 | AIP | c.506A>T c.340A>T (p.Lys114Ter) n.1041A>T c.468+643A>T (n.468+643A>T) c.160A>T (p.Lys54Ter) c.529A>T (p.Lys177Ter) c.352A>T (p.Lys118Ter) c.349A>T (p.Lys117Ter) c.181A>T (p.Lys61Ter) | |
| 11 | g.67490099A>C | CA381550631 | AIP | c.507A>C c.341A>C (p.Lys114Thr) n.1042A>C c.468+644A>C (n.468+644A>C) c.161A>C (p.Lys54Thr) c.530A>C (p.Lys177Thr) c.353A>C (p.Lys118Thr) c.350A>C (p.Lys117Thr) c.182A>C (p.Lys61Thr) | |
| 11 | g.67490099A>G | CA381550633 | AIP | c.507A>G c.341A>G (p.Lys114Arg) n.1042A>G c.468+644A>G (n.468+644A>G) c.161A>G (p.Lys54Arg) c.530A>G (p.Lys177Arg) c.353A>G (p.Lys118Arg) c.350A>G (p.Lys117Arg) c.182A>G (p.Lys61Arg) | |
| 11 | g.67490099A>T | CA381550635 | AIP | c.507A>T c.341A>T (p.Lys114Met) n.1042A>T c.468+644A>T (n.468+644A>T) c.161A>T (p.Lys54Met) c.530A>T (p.Lys177Met) c.353A>T (p.Lys118Met) c.350A>T (p.Lys117Met) c.182A>T (p.Lys61Met) | |
| 11 | g.67490100G>A | CA475509161 | AIP | c.508G>A c.342G>A (p.Lys114=) n.1043G>A c.468+645G>A (n.468+645G>A) c.162G>A (p.Lys54=) c.531G>A (p.Lys177=) c.354G>A (p.Lys118=) c.351G>A (p.Lys117=) c.183G>A (p.Lys61=) | ClinVar |
| 11 | g.67490100G>C | CA381550638 | AIP | c.508G>C c.342G>C (p.Lys114Asn) n.1043G>C c.468+645G>C (n.468+645G>C) c.162G>C (p.Lys54Asn) c.531G>C (p.Lys177Asn) c.354G>C (p.Lys118Asn) c.351G>C (p.Lys117Asn) c.183G>C (p.Lys61Asn) | |
| 11 | g.67490100G>T | CA381550640 | AIP | c.508G>T c.342G>T (p.Lys114Asn) n.1043G>T c.468+645G>T (n.468+645G>T) c.162G>T (p.Lys54Asn) c.531G>T (p.Lys177Asn) c.354G>T (p.Lys118Asn) c.351G>T (p.Lys117Asn) c.183G>T (p.Lys61Asn) | |
| 11 | g.67490101G>A | CA6140865 | AIP | c.509G>A c.343G>A (p.Ala115Thr) n.1044G>A c.468+646G>A (n.468+646G>A) c.163G>A (p.Ala55Thr) c.532G>A (p.Ala178Thr) c.355G>A (p.Ala119Thr) c.352G>A (p.Ala118Thr) c.184G>A (p.Ala62Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490101G>C | CA381550645 | AIP | c.509G>C c.343G>C (p.Ala115Pro) n.1044G>C c.468+646G>C (n.468+646G>C) c.163G>C (p.Ala55Pro) c.532G>C (p.Ala178Pro) c.355G>C (p.Ala119Pro) c.352G>C (p.Ala118Pro) c.184G>C (p.Ala62Pro) | |
| 11 | g.67490101G= | CA1980172294 | AIP | c.509G= c.343G= (p.Ala115=) n.1044G= c.468+646G= (n.468+646G=) c.163G= (p.Ala55=) c.532G= (p.Ala178=) c.355G= (p.Ala119=) c.352G= (p.Ala118=) c.184G= (p.Ala62=) | |
| 11 | g.67490101G>T | CA381550649 | AIP | c.509G>T c.343G>T (p.Ala115Ser) n.1044G>T c.468+646G>T (n.468+646G>T) c.163G>T (p.Ala55Ser) c.532G>T (p.Ala178Ser) c.355G>T (p.Ala119Ser) c.352G>T (p.Ala118Ser) c.184G>T (p.Ala62Ser) | |
| 11 | g.67490102C>A | CA381550654 | AIP | c.510C>A c.344C>A (p.Ala115Glu) n.1045C>A c.468+647C>A (n.468+647C>A) c.164C>A (p.Ala55Glu) c.533C>A (p.Ala178Glu) c.356C>A (p.Ala119Glu) c.353C>A (p.Ala118Glu) c.185C>A (p.Ala62Glu) | |
| 11 | g.67490102C= | CA1980172295 | AIP | c.510C= c.344C= (p.Ala115=) n.1045C= c.468+647C= (n.468+647C=) c.164C= (p.Ala55=) c.533C= (p.Ala178=) c.356C= (p.Ala119=) c.353C= (p.Ala118=) c.185C= (p.Ala62=) | |
| 11 | g.67490102C>G | CA381550655 | AIP | c.510C>G c.344C>G (p.Ala115Gly) n.1045C>G c.468+647C>G (n.468+647C>G) c.164C>G (p.Ala55Gly) c.533C>G (p.Ala178Gly) c.356C>G (p.Ala119Gly) c.353C>G (p.Ala118Gly) c.185C>G (p.Ala62Gly) | |
| 11 | g.67490102C>T | CA6140866 | AIP | c.510C>T c.344C>T (p.Ala115Val) n.1045C>T c.468+647C>T (n.468+647C>T) c.164C>T (p.Ala55Val) c.533C>T (p.Ala178Val) c.356C>T (p.Ala119Val) c.353C>T (p.Ala118Val) c.185C>T (p.Ala62Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490103A= | CA1980172296 | AIP | c.511A= c.345A= (p.Ala115=) n.1046A= c.468+648A= (n.468+648A=) c.165A= (p.Ala55=) c.534A= (p.Ala178=) c.357A= (p.Ala119=) c.354A= (p.Ala118=) c.186A= (p.Ala62=) | |
| 11 | g.67490103A>C | CA475509162 | AIP | c.511A>C c.345A>C (p.Ala115=) n.1046A>C c.468+648A>C (n.468+648A>C) c.165A>C (p.Ala55=) c.534A>C (p.Ala178=) c.357A>C (p.Ala119=) c.354A>C (p.Ala118=) c.186A>C (p.Ala62=) | |
| 11 | g.67490103A>G | CA224164996 | AIP | c.511A>G c.345A>G (p.Ala115=) n.1046A>G c.468+648A>G (n.468+648A>G) c.165A>G (p.Ala55=) c.534A>G (p.Ala178=) c.357A>G (p.Ala119=) c.354A>G (p.Ala118=) c.186A>G (p.Ala62=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490103A>T | CA475509163 | AIP | c.511A>T c.345A>T (p.Ala115=) n.1046A>T c.468+648A>T (n.468+648A>T) c.165A>T (p.Ala55=) c.534A>T (p.Ala178=) c.357A>T (p.Ala119=) c.354A>T (p.Ala118=) c.186A>T (p.Ala62=) | |
| 11 | g.67490104G>A | CA381550659 | AIP | c.512G>A c.346G>A (p.Val116Met) n.1047G>A c.468+649G>A (n.468+649G>A) c.166G>A (p.Val56Met) c.535G>A (p.Val179Met) c.358G>A (p.Val120Met) c.355G>A (p.Val119Met) c.187G>A (p.Val63Met) | |
| 11 | g.67490104G>C | CA381550661 | AIP | c.512G>C c.346G>C (p.Val116Leu) n.1047G>C c.468+649G>C (n.468+649G>C) c.166G>C (p.Val56Leu) c.535G>C (p.Val179Leu) c.358G>C (p.Val120Leu) c.355G>C (p.Val119Leu) c.187G>C (p.Val63Leu) | |
| 11 | g.67490104G>T | CA381550663 | AIP | c.512G>T c.346G>T (p.Val116Leu) n.1047G>T c.468+649G>T (n.468+649G>T) c.166G>T (p.Val56Leu) c.535G>T (p.Val179Leu) c.358G>T (p.Val120Leu) c.355G>T (p.Val119Leu) c.187G>T (p.Val63Leu) | |
| 11 | g.67490105T>A | CA381550671 | AIP | c.513T>A c.347T>A (p.Val116Glu) n.1048T>A c.468+650T>A (n.468+650T>A) c.167T>A (p.Val56Glu) c.536T>A (p.Val179Glu) c.359T>A (p.Val120Glu) c.356T>A (p.Val119Glu) c.188T>A (p.Val63Glu) | |
| 11 | g.67490105T>C | CA381550668 | AIP | c.513T>C c.347T>C (p.Val116Ala) n.1048T>C c.468+650T>C (n.468+650T>C) c.167T>C (p.Val56Ala) c.536T>C (p.Val179Ala) c.359T>C (p.Val120Ala) c.356T>C (p.Val119Ala) c.188T>C (p.Val63Ala) | |
| 11 | g.67490105T>G | CA381550666 | AIP | c.513T>G c.347T>G (p.Val116Gly) n.1048T>G c.468+650T>G (n.468+650T>G) c.167T>G (p.Val56Gly) c.536T>G (p.Val179Gly) c.359T>G (p.Val120Gly) c.356T>G (p.Val119Gly) c.188T>G (p.Val63Gly) | |
| 11 | g.67490106G>A | CA475509164 | AIP | c.514G>A c.348G>A (p.Val116=) n.1049G>A c.468+651G>A (n.468+651G>A) c.168G>A (p.Val56=) c.537G>A (p.Val179=) c.360G>A (p.Val120=) c.357G>A (p.Val119=) c.189G>A (p.Val63=) | gnomAD v4 |
| 11 | g.67490106G>C | CA475509165 | AIP | c.514G>C c.348G>C (p.Val116=) n.1049G>C c.468+651G>C (n.468+651G>C) c.168G>C (p.Val56=) c.537G>C (p.Val179=) c.360G>C (p.Val120=) c.357G>C (p.Val119=) c.189G>C (p.Val63=) | ClinVar |
| 11 | g.67490106G>T | CA475509166 | AIP | c.514G>T c.348G>T (p.Val116=) n.1049G>T c.468+651G>T (n.468+651G>T) c.168G>T (p.Val56=) c.537G>T (p.Val179=) c.360G>T (p.Val120=) c.357G>T (p.Val119=) c.189G>T (p.Val63=) | ClinVar |
| 11 | g.67490107C>A | CA381550673 | AIP | c.515C>A c.349C>A (p.Pro117Thr) n.1050C>A c.468+652C>A (n.468+652C>A) c.169C>A (p.Pro57Thr) c.538C>A (p.Pro180Thr) c.361C>A (p.Pro121Thr) c.358C>A (p.Pro120Thr) c.190C>A (p.Pro64Thr) | |
| 11 | g.67490107C>G | CA381550676 | AIP | c.515C>G c.349C>G (p.Pro117Ala) n.1050C>G c.468+652C>G (n.468+652C>G) c.169C>G (p.Pro57Ala) c.538C>G (p.Pro180Ala) c.361C>G (p.Pro121Ala) c.358C>G (p.Pro120Ala) c.190C>G (p.Pro64Ala) | |
| 11 | g.67490107C>T | CA381550679 | AIP | c.515C>T c.349C>T (p.Pro117Ser) n.1050C>T c.468+652C>T (n.468+652C>T) c.169C>T (p.Pro57Ser) c.538C>T (p.Pro180Ser) c.361C>T (p.Pro121Ser) c.358C>T (p.Pro120Ser) c.190C>T (p.Pro64Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490108C>A | CA381550683 | AIP | c.516C>A c.350C>A (p.Pro117Gln) n.1051C>A c.468+653C>A (n.468+653C>A) c.170C>A (p.Pro57Gln) c.539C>A (p.Pro180Gln) c.362C>A (p.Pro121Gln) c.359C>A (p.Pro120Gln) c.191C>A (p.Pro64Gln) | ClinVar |
| 11 | g.67490108C= | CA1980172297 | AIP | c.516C= c.350C= (p.Pro117=) n.1051C= c.468+653C= (n.468+653C=) c.170C= (p.Pro57=) c.539C= (p.Pro180=) c.362C= (p.Pro121=) c.359C= (p.Pro120=) c.191C= (p.Pro64=) | |
| 11 | g.67490108C>G | CA381550686 | AIP | c.516C>G c.350C>G (p.Pro117Arg) n.1051C>G c.468+653C>G (n.468+653C>G) c.170C>G (p.Pro57Arg) c.539C>G (p.Pro180Arg) c.362C>G (p.Pro121Arg) c.359C>G (p.Pro120Arg) c.191C>G (p.Pro64Arg) | |
| 11 | g.67490108C>T | CA381550688 | AIP | c.516C>T c.350C>T (p.Pro117Leu) n.1051C>T c.468+653C>T (n.468+653C>T) c.170C>T (p.Pro57Leu) c.539C>T (p.Pro180Leu) c.362C>T (p.Pro121Leu) c.359C>T (p.Pro120Leu) c.191C>T (p.Pro64Leu) | ClinVar dbSNP |
| 11 | g.67490109A>C | CA475509169 | AIP | c.517A>C c.351A>C (p.Pro117=) n.1052A>C c.468+654A>C (n.468+654A>C) c.171A>C (p.Pro57=) c.540A>C (p.Pro180=) c.363A>C (p.Pro121=) c.360A>C (p.Pro120=) c.192A>C (p.Pro64=) | ClinVar |
| 11 | g.67490109A>G | CA475509167 | AIP | c.517A>G c.351A>G (p.Pro117=) n.1052A>G c.468+654A>G (n.468+654A>G) c.171A>G (p.Pro57=) c.540A>G (p.Pro180=) c.363A>G (p.Pro121=) c.360A>G (p.Pro120=) c.192A>G (p.Pro64=) | ClinVar dbSNP |
| 11 | g.67490109A>T | CA475509168 | AIP | c.517A>T c.351A>T (p.Pro117=) n.1052A>T c.468+654A>T (n.468+654A>T) c.171A>T (p.Pro57=) c.540A>T (p.Pro180=) c.363A>T (p.Pro121=) c.360A>T (p.Pro120=) c.192A>T (p.Pro64=) | ClinVar |
| 11 | g.67490110C>A | CA381550692 | AIP | c.518C>A c.352C>A (p.Leu118Ile) n.1053C>A c.468+655C>A (n.468+655C>A) c.172C>A (p.Leu58Ile) c.541C>A (p.Leu181Ile) c.364C>A (p.Leu122Ile) c.361C>A (p.Leu121Ile) c.193C>A (p.Leu65Ile) | COSMIC |
| 11 | g.67490110C= | CA1980172299 | AIP | c.518C= c.352C= (p.Leu118=) n.1053C= c.468+655C= (n.468+655C=) c.172C= (p.Leu58=) c.541C= (p.Leu181=) c.364C= (p.Leu122=) c.361C= (p.Leu121=) c.193C= (p.Leu65=) | |
| 11 | g.67490110C>G | CA381550695 | AIP | c.518C>G c.352C>G (p.Leu118Val) n.1053C>G c.468+655C>G (n.468+655C>G) c.172C>G (p.Leu58Val) c.541C>G (p.Leu181Val) c.364C>G (p.Leu122Val) c.361C>G (p.Leu121Val) c.193C>G (p.Leu65Val) | |
| 11 | g.67490110C>T | CA381550696 | AIP | c.518C>T c.352C>T (p.Leu118Phe) n.1053C>T c.468+655C>T (n.468+655C>T) c.172C>T (p.Leu58Phe) c.541C>T (p.Leu181Phe) c.364C>T (p.Leu122Phe) c.361C>T (p.Leu121Phe) c.193C>T (p.Leu65Phe) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490110_67490111delinsCT | CA1980172298 | AIP | c.518_519delinsCT c.352_353delinsCT (p.Leu118=) n.1053_1054delinsCT c.468+655_468+656delinsCT (n.468+655_468+656delinsCT) c.172_173delinsCT (p.Leu58=) c.541_542delinsCT (p.Leu181=) c.364_365delinsCT (p.Leu122=) c.361_362delinsCT (p.Leu121=) c.193_194delinsCT (p.Leu65=) | |
| 11 | g.67490111T>A | CA381550700 | AIP | c.519T>A c.353T>A (p.Leu118His) n.1054T>A c.468+656T>A (n.468+656T>A) c.173T>A (p.Leu58His) c.542T>A (p.Leu181His) c.365T>A (p.Leu122His) c.362T>A (p.Leu121His) c.194T>A (p.Leu65His) | |
| 11 | g.67490111T>C | CA381550702 | AIP | c.519T>C c.353T>C (p.Leu118Pro) n.1054T>C c.468+656T>C (n.468+656T>C) c.173T>C (p.Leu58Pro) c.542T>C (p.Leu181Pro) c.365T>C (p.Leu122Pro) c.362T>C (p.Leu121Pro) c.194T>C (p.Leu65Pro) | |
| 11 | g.67490111T>G | CA381550703 | AIP | c.519T>G c.353T>G (p.Leu118Arg) n.1054T>G c.468+656T>G (n.468+656T>G) c.173T>G (p.Leu58Arg) c.542T>G (p.Leu181Arg) c.365T>G (p.Leu122Arg) c.362T>G (p.Leu121Arg) c.194T>G (p.Leu65Arg) | ClinVar dbSNP gnomAD v2 |
| 11 | g.67490111T= | CA1980172300 | AIP | c.519T= c.353T= (p.Leu118=) n.1054T= c.468+656T= (n.468+656T=) c.173T= (p.Leu58=) c.542T= (p.Leu181=) c.365T= (p.Leu122=) c.362T= (p.Leu121=) c.194T= (p.Leu65=) | |
| 11 | g.67490112del | CA340307 | AIP | c.520del c.354del (p.Ile119SerfsTer14) n.1055del c.468+657del (n.468+657del) c.174del (p.Ile59SerfsTer14) c.543del (p.Ile182SerfsTer14) c.366del (p.Ile123SerfsTer14) c.363del (p.Ile122SerfsTer14) c.195del (p.Ile66SerfsTer14) | ClinVar dbSNP |
| 11 | g.67490112T>A | CA475509170 | AIP | c.520T>A c.354T>A (p.Leu118=) n.1055T>A c.468+657T>A (n.468+657T>A) c.174T>A (p.Leu58=) c.543T>A (p.Leu181=) c.366T>A (p.Leu122=) c.363T>A (p.Leu121=) c.195T>A (p.Leu65=) | |
| 11 | g.67490112T>C | CA475509171 | AIP | c.520T>C c.354T>C (p.Leu118=) n.1055T>C c.468+657T>C (n.468+657T>C) c.174T>C (p.Leu58=) c.543T>C (p.Leu181=) c.366T>C (p.Leu122=) c.363T>C (p.Leu121=) c.195T>C (p.Leu65=) | |
| 11 | g.67490112T>G | CA475509172 | AIP | c.520T>G c.354T>G (p.Leu118=) n.1055T>G c.468+657T>G (n.468+657T>G) c.174T>G (p.Leu58=) c.543T>G (p.Leu181=) c.366T>G (p.Leu122=) c.363T>G (p.Leu121=) c.195T>G (p.Leu65=) | dbSNP |
| 11 | g.67490112T= | CA1980172301 | AIP | c.520T= c.354T= (p.Leu118=) n.1055T= c.468+657T= (n.468+657T=) c.174T= (p.Leu58=) c.543T= (p.Leu181=) c.366T= (p.Leu122=) c.363T= (p.Leu121=) c.195T= (p.Leu65=) | |
| 11 | g.67490113A= | CA1980172302 | AIP | c.521A= c.355A= (p.Ile119=) n.1056A= c.468+658A= (n.468+658A=) c.175A= (p.Ile59=) c.544A= (p.Ile182=) c.367A= (p.Ile123=) c.364A= (p.Ile122=) c.196A= (p.Ile66=) | |
| 11 | g.67490113A>C | CA381550704 | AIP | c.521A>C c.355A>C (p.Ile119Leu) n.1056A>C c.468+658A>C (n.468+658A>C) c.175A>C (p.Ile59Leu) c.544A>C (p.Ile182Leu) c.367A>C (p.Ile123Leu) c.364A>C (p.Ile122Leu) c.196A>C (p.Ile66Leu) | |
| 11 | g.67490113A>G | CA381550706 | AIP | c.521A>G c.355A>G (p.Ile119Val) n.1056A>G c.468+658A>G (n.468+658A>G) c.175A>G (p.Ile59Val) c.544A>G (p.Ile182Val) c.367A>G (p.Ile123Val) c.364A>G (p.Ile122Val) c.196A>G (p.Ile66Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490113A>T | CA381550705 | AIP | c.521A>T c.355A>T (p.Ile119Phe) n.1056A>T c.468+658A>T (n.468+658A>T) c.175A>T (p.Ile59Phe) c.544A>T (p.Ile182Phe) c.367A>T (p.Ile123Phe) c.364A>T (p.Ile122Phe) c.196A>T (p.Ile66Phe) | ClinVar gnomAD v4 |
| 11 | g.67490114T>A | CA381550709 | AIP | c.522T>A c.356T>A (p.Ile119Asn) n.1057T>A c.468+659T>A (n.468+659T>A) c.176T>A (p.Ile59Asn) c.545T>A (p.Ile182Asn) c.368T>A (p.Ile123Asn) c.365T>A (p.Ile122Asn) c.197T>A (p.Ile66Asn) | |
| 11 | g.67490114T>C | CA381550715 | AIP | c.522T>C c.356T>C (p.Ile119Thr) n.1057T>C c.468+659T>C (n.468+659T>C) c.176T>C (p.Ile59Thr) c.545T>C (p.Ile182Thr) c.368T>C (p.Ile123Thr) c.365T>C (p.Ile122Thr) c.197T>C (p.Ile66Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490114T>G | CA381550712 | AIP | c.522T>G c.356T>G (p.Ile119Ser) n.1057T>G c.468+659T>G (n.468+659T>G) c.176T>G (p.Ile59Ser) c.545T>G (p.Ile182Ser) c.368T>G (p.Ile123Ser) c.365T>G (p.Ile122Ser) c.197T>G (p.Ile66Ser) | |
| 11 | g.67490114T= | CA1980172303 | AIP | c.522T= c.356T= (p.Ile119=) n.1057T= c.468+659T= (n.468+659T=) c.176T= (p.Ile59=) c.545T= (p.Ile182=) c.368T= (p.Ile123=) c.365T= (p.Ile122=) c.197T= (p.Ile66=) | |
| 11 | g.67490115C>A | CA475509173 | AIP | c.523C>A c.357C>A (p.Ile119=) n.1058C>A c.468+660C>A (n.468+660C>A) c.177C>A (p.Ile59=) c.546C>A (p.Ile182=) c.369C>A (p.Ile123=) c.366C>A (p.Ile122=) c.198C>A (p.Ile66=) | |
| 11 | g.67490115C>G | CA381550720 | AIP | c.523C>G c.357C>G (p.Ile119Met) n.1058C>G c.468+660C>G (n.468+660C>G) c.177C>G (p.Ile59Met) c.546C>G (p.Ile182Met) c.369C>G (p.Ile123Met) c.366C>G (p.Ile122Met) c.198C>G (p.Ile66Met) | |
| 11 | g.67490115C>T | CA475509174 | AIP | c.523C>T c.357C>T (p.Ile119=) n.1058C>T c.468+660C>T (n.468+660C>T) c.177C>T (p.Ile59=) c.546C>T (p.Ile182=) c.369C>T (p.Ile123=) c.366C>T (p.Ile122=) c.198C>T (p.Ile66=) | ClinVar |
| 11 | g.67490116C>A | CA381550730 | AIP | c.524C>A c.358C>A (p.His120Asn) n.1059C>A c.468+661C>A (n.468+661C>A) c.178C>A (p.His60Asn) c.547C>A (p.His183Asn) c.370C>A (p.His124Asn) c.367C>A (p.His123Asn) c.199C>A (p.His67Asn) | |
| 11 | g.67490116C= | CA1980172304 | AIP | c.524C= c.358C= (p.His120=) n.1059C= c.468+661C= (n.468+661C=) c.178C= (p.His60=) c.547C= (p.His183=) c.370C= (p.His124=) c.367C= (p.His123=) c.199C= (p.His67=) | |
| 11 | g.67490116C>G | CA381550727 | AIP | c.524C>G c.358C>G (p.His120Asp) n.1059C>G c.468+661C>G (n.468+661C>G) c.178C>G (p.His60Asp) c.547C>G (p.His183Asp) c.370C>G (p.His124Asp) c.367C>G (p.His123Asp) c.199C>G (p.His67Asp) | |
| 11 | g.67490116C>T | CA224164998 | AIP | c.524C>T c.358C>T (p.His120Tyr) n.1059C>T c.468+661C>T (n.468+661C>T) c.178C>T (p.His60Tyr) c.547C>T (p.His183Tyr) c.370C>T (p.His124Tyr) c.367C>T (p.His123Tyr) c.199C>T (p.His67Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490117A>C | CA381550734 | AIP | c.525A>C c.359A>C (p.His120Pro) n.1060A>C c.468+662A>C (n.468+662A>C) c.179A>C (p.His60Pro) c.548A>C (p.His183Pro) c.371A>C (p.His124Pro) c.368A>C (p.His123Pro) c.200A>C (p.His67Pro) | |
| 11 | g.67490117A>G | CA381550737 | AIP | c.525A>G c.359A>G (p.His120Arg) n.1060A>G c.468+662A>G (n.468+662A>G) c.179A>G (p.His60Arg) c.548A>G (p.His183Arg) c.371A>G (p.His124Arg) c.368A>G (p.His123Arg) c.200A>G (p.His67Arg) | |
| 11 | g.67490117A>T | CA381550739 | AIP | c.525A>T c.359A>T (p.His120Leu) n.1060A>T c.468+662A>T (n.468+662A>T) c.179A>T (p.His60Leu) c.548A>T (p.His183Leu) c.371A>T (p.His124Leu) c.368A>T (p.His123Leu) c.200A>T (p.His67Leu) | |
| 11 | g.67490118C>A | CA381550744 | AIP | c.526C>A c.360C>A (p.His120Gln) n.1061C>A c.468+663C>A (n.468+663C>A) c.180C>A (p.His60Gln) c.549C>A (p.His183Gln) c.372C>A (p.His124Gln) c.369C>A (p.His123Gln) c.201C>A (p.His67Gln) | |
| 11 | g.67490118C>G | CA381550746 | AIP | c.526C>G c.360C>G (p.His120Gln) n.1061C>G c.468+663C>G (n.468+663C>G) c.180C>G (p.His60Gln) c.549C>G (p.His183Gln) c.372C>G (p.His124Gln) c.369C>G (p.His123Gln) c.201C>G (p.His67Gln) | |
| 11 | g.67490118C>T | CA475509175 | AIP | c.526C>T c.360C>T (p.His120=) n.1061C>T c.468+663C>T (n.468+663C>T) c.180C>T (p.His60=) c.549C>T (p.His183=) c.372C>T (p.His124=) c.369C>T (p.His123=) c.201C>T (p.His67=) | ClinVar |
| 11 | g.67490119C>A | CA6140867 | AIP | c.527C>A c.361C>A (p.Gln121Lys) n.1062C>A c.468+664C>A (n.468+664C>A) c.181C>A (p.Gln61Lys) c.550C>A (p.Gln184Lys) c.373C>A (p.Gln125Lys) c.370C>A (p.Gln124Lys) c.202C>A (p.Gln68Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490119C= | CA1980172305 | AIP | c.527C= c.361C= (p.Gln121=) n.1062C= c.468+664C= (n.468+664C=) c.181C= (p.Gln61=) c.550C= (p.Gln184=) c.373C= (p.Gln125=) c.370C= (p.Gln124=) c.202C= (p.Gln68=) | |
| 11 | g.67490119C>G | CA381550751 | AIP | c.527C>G c.361C>G (p.Gln121Glu) n.1062C>G c.468+664C>G (n.468+664C>G) c.181C>G (p.Gln61Glu) c.550C>G (p.Gln184Glu) c.373C>G (p.Gln125Glu) c.370C>G (p.Gln124Glu) c.202C>G (p.Gln68Glu) | |
| 11 | g.67490119C>T | CA344126 | AIP | c.527C>T c.361C>T (p.Gln121Ter) n.1062C>T c.468+664C>T (n.468+664C>T) c.181C>T (p.Gln61Ter) c.550C>T (p.Gln184Ter) c.373C>T (p.Gln125Ter) c.370C>T (p.Gln124Ter) c.202C>T (p.Gln68Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490120A>C | CA381550758 | AIP | c.528A>C c.362A>C (p.Gln121Pro) n.1063A>C c.468+665A>C (n.468+665A>C) c.182A>C (p.Gln61Pro) c.551A>C (p.Gln184Pro) c.374A>C (p.Gln125Pro) c.371A>C (p.Gln124Pro) c.203A>C (p.Gln68Pro) | |
| 11 | g.67490120A>G | CA381550762 | AIP | c.528A>G c.362A>G (p.Gln121Arg) n.1063A>G c.468+665A>G (n.468+665A>G) c.182A>G (p.Gln61Arg) c.551A>G (p.Gln184Arg) c.374A>G (p.Gln125Arg) c.371A>G (p.Gln124Arg) c.203A>G (p.Gln68Arg) | |
| 11 | g.67490120A>T | CA381550765 | AIP | c.528A>T c.362A>T (p.Gln121Leu) n.1063A>T c.468+665A>T (n.468+665A>T) c.182A>T (p.Gln61Leu) c.551A>T (p.Gln184Leu) c.374A>T (p.Gln125Leu) c.371A>T (p.Gln124Leu) c.203A>T (p.Gln68Leu) | |
| 11 | g.67490123_67490125del | CA2614623231 | AIP | c.531_533del c.365_367del (p.Glu122del) n.1066_1068del c.468+668_468+670del (n.468+668_468+670del) c.185_187del (p.Glu62del) c.554_556del (p.Glu185del) c.377_379del (p.Glu126del) c.374_376del (p.Glu125del) c.206_208del (p.Glu69del) | gnomAD v4 |
| 11 | g.67490121G>A | CA475509177 | AIP | c.529G>A c.363G>A (p.Gln121=) n.1064G>A c.468+666G>A (n.468+666G>A) c.183G>A (p.Gln61=) c.552G>A (p.Gln184=) c.375G>A (p.Gln125=) c.372G>A (p.Gln124=) c.204G>A (p.Gln68=) | |
| 11 | g.67490121G>C | CA381550776 | AIP | c.529G>C c.363G>C (p.Gln121His) n.1064G>C c.468+666G>C (n.468+666G>C) c.183G>C (p.Gln61His) c.552G>C (p.Gln184His) c.375G>C (p.Gln125His) c.372G>C (p.Gln124His) c.204G>C (p.Gln68His) | |
| 11 | g.67490121G>T | CA381550777 | AIP | c.529G>T c.363G>T (p.Gln121His) n.1064G>T c.468+666G>T (n.468+666G>T) c.183G>T (p.Gln61His) c.552G>T (p.Gln184His) c.375G>T (p.Gln125His) c.372G>T (p.Gln124His) c.204G>T (p.Gln68His) | |
| 11 | g.67490122G>A | CA224165001 | AIP | c.530G>A c.364G>A (p.Glu122Lys) n.1065G>A c.468+667G>A (n.468+667G>A) c.184G>A (p.Glu62Lys) c.553G>A (p.Glu185Lys) c.376G>A (p.Glu126Lys) c.373G>A (p.Glu125Lys) c.205G>A (p.Glu69Lys) | ClinVar dbSNP |
| 11 | g.67490122G>C | CA381550784 | AIP | c.530G>C c.364G>C (p.Glu122Gln) n.1065G>C c.468+667G>C (n.468+667G>C) c.184G>C (p.Glu62Gln) c.553G>C (p.Glu185Gln) c.376G>C (p.Glu126Gln) c.373G>C (p.Glu125Gln) c.205G>C (p.Glu69Gln) | |
| 11 | g.67490122G= | CA1980172306 | AIP | c.530G= c.364G= (p.Glu122=) n.1065G= c.468+667G= (n.468+667G=) c.184G= (p.Glu62=) c.553G= (p.Glu185=) c.376G= (p.Glu126=) c.373G= (p.Glu125=) c.205G= (p.Glu69=) | |
| 11 | g.67490122G>T | CA381550781 | AIP | c.530G>T c.364G>T (p.Glu122Ter) n.1065G>T c.468+667G>T (n.468+667G>T) c.184G>T (p.Glu62Ter) c.553G>T (p.Glu185Ter) c.376G>T (p.Glu126Ter) c.373G>T (p.Glu125Ter) c.205G>T (p.Glu69Ter) | ClinVar dbSNP |
| 11 | g.67490123A>C | CA381550787 | AIP | c.531A>C c.365A>C (p.Glu122Ala) n.1066A>C c.468+668A>C (n.468+668A>C) c.185A>C (p.Glu62Ala) c.554A>C (p.Glu185Ala) c.377A>C (p.Glu126Ala) c.374A>C (p.Glu125Ala) c.206A>C (p.Glu69Ala) | |
| 11 | g.67490123A>G | CA381550790 | AIP | c.531A>G c.365A>G (p.Glu122Gly) n.1066A>G c.468+668A>G (n.468+668A>G) c.185A>G (p.Glu62Gly) c.554A>G (p.Glu185Gly) c.377A>G (p.Glu126Gly) c.374A>G (p.Glu125Gly) c.206A>G (p.Glu69Gly) | |
| 11 | g.67490123A>T | CA381550792 | AIP | c.531A>T c.365A>T (p.Glu122Val) n.1066A>T c.468+668A>T (n.468+668A>T) c.185A>T (p.Glu62Val) c.554A>T (p.Glu185Val) c.377A>T (p.Glu126Val) c.374A>T (p.Glu125Val) c.206A>T (p.Glu69Val) | |
| 11 | g.67490124G>A | CA475509179 | AIP | c.532G>A c.366G>A (p.Glu122=) n.1067G>A c.468+669G>A (n.468+669G>A) c.186G>A (p.Glu62=) c.555G>A (p.Glu185=) c.378G>A (p.Glu126=) c.375G>A (p.Glu125=) c.207G>A (p.Glu69=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490124G>C | CA381550796 | AIP | c.532G>C c.366G>C (p.Glu122Asp) n.1067G>C c.468+669G>C (n.468+669G>C) c.186G>C (p.Glu62Asp) c.555G>C (p.Glu185Asp) c.378G>C (p.Glu126Asp) c.375G>C (p.Glu125Asp) c.207G>C (p.Glu69Asp) | |
| 11 | g.67490124G= | CA1980172307 | AIP | c.532G= c.366G= (p.Glu122=) n.1067G= c.468+669G= (n.468+669G=) c.186G= (p.Glu62=) c.555G= (p.Glu185=) c.378G= (p.Glu126=) c.375G= (p.Glu125=) c.207G= (p.Glu69=) | |
| 11 | g.67490124G>T | CA381550799 | AIP | c.532G>T c.366G>T (p.Glu122Asp) n.1067G>T c.468+669G>T (n.468+669G>T) c.186G>T (p.Glu62Asp) c.555G>T (p.Glu185Asp) c.378G>T (p.Glu126Asp) c.375G>T (p.Glu125Asp) c.207G>T (p.Glu69Asp) | |
| 11 | g.67490125G>A | CA381550801 | AIP | c.533G>A c.367G>A (p.Gly123Ser) n.1068G>A c.468+670G>A (n.468+670G>A) c.187G>A (p.Gly63Ser) c.556G>A (p.Gly186Ser) c.379G>A (p.Gly127Ser) c.376G>A (p.Gly126Ser) c.208G>A (p.Gly70Ser) | |
| 11 | g.67490125G>C | CA381550803 | AIP | c.533G>C c.367G>C (p.Gly123Arg) n.1068G>C c.468+670G>C (n.468+670G>C) c.187G>C (p.Gly63Arg) c.556G>C (p.Gly186Arg) c.379G>C (p.Gly127Arg) c.376G>C (p.Gly126Arg) c.208G>C (p.Gly70Arg) | |
| 11 | g.67490125G>T | CA381550807 | AIP | c.533G>T c.367G>T (p.Gly123Cys) n.1068G>T c.468+670G>T (n.468+670G>T) c.187G>T (p.Gly63Cys) c.556G>T (p.Gly186Cys) c.379G>T (p.Gly127Cys) c.376G>T (p.Gly126Cys) c.208G>T (p.Gly70Cys) | |
| 11 | g.67490126G>A | CA381550811 | AIP | c.534G>A c.368G>A (p.Gly123Asp) n.1069G>A c.468+671G>A (n.468+671G>A) c.188G>A (p.Gly63Asp) c.557G>A (p.Gly186Asp) c.380G>A (p.Gly127Asp) c.377G>A (p.Gly126Asp) c.209G>A (p.Gly70Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490126G>C | CA381550813 | AIP | c.534G>C c.368G>C (p.Gly123Ala) n.1069G>C c.468+671G>C (n.468+671G>C) c.188G>C (p.Gly63Ala) c.557G>C (p.Gly186Ala) c.380G>C (p.Gly127Ala) c.377G>C (p.Gly126Ala) c.209G>C (p.Gly70Ala) | |
| 11 | g.67490126G= | CA1980172308 | AIP | c.534G= c.368G= (p.Gly123=) n.1069G= c.468+671G= (n.468+671G=) c.188G= (p.Gly63=) c.557G= (p.Gly186=) c.380G= (p.Gly127=) c.377G= (p.Gly126=) c.209G= (p.Gly70=) | |
| 11 | g.67490126G>T | CA381550817 | AIP | c.534G>T c.368G>T (p.Gly123Val) n.1069G>T c.468+671G>T (n.468+671G>T) c.188G>T (p.Gly63Val) c.557G>T (p.Gly186Val) c.380G>T (p.Gly127Val) c.377G>T (p.Gly126Val) c.209G>T (p.Gly70Val) | |
| 11 | g.67490127C>A | CA475509186 | AIP | c.535C>A c.369C>A (p.Gly123=) n.1070C>A c.468+672C>A (n.468+672C>A) c.189C>A (p.Gly63=) c.558C>A (p.Gly186=) c.381C>A (p.Gly127=) c.378C>A (p.Gly126=) c.210C>A (p.Gly70=) | |
| 11 | g.67490127C= | CA1980172309 | AIP | c.535C= c.369C= (p.Gly123=) n.1070C= c.468+672C= (n.468+672C=) c.189C= (p.Gly63=) c.558C= (p.Gly186=) c.381C= (p.Gly127=) c.378C= (p.Gly126=) c.210C= (p.Gly70=) | |
| 11 | g.67490127C>G | CA475509187 | AIP | c.535C>G c.369C>G (p.Gly123=) n.1070C>G c.468+672C>G (n.468+672C>G) c.189C>G (p.Gly63=) c.558C>G (p.Gly186=) c.381C>G (p.Gly127=) c.378C>G (p.Gly126=) c.210C>G (p.Gly70=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490127C>T | CA475509188 | AIP | c.535C>T c.369C>T (p.Gly123=) n.1070C>T c.468+672C>T (n.468+672C>T) c.189C>T (p.Gly63=) c.558C>T (p.Gly186=) c.381C>T (p.Gly127=) c.378C>T (p.Gly126=) c.210C>T (p.Gly70=) | |
| 11 | g.67490128A>C | CA381550823 | AIP | c.536A>C c.370A>C (p.Asn124His) n.1071A>C c.468+673A>C (n.468+673A>C) c.190A>C (p.Asn64His) c.559A>C (p.Asn187His) c.382A>C (p.Asn128His) c.379A>C (p.Asn127His) c.211A>C (p.Asn71His) | |
| 11 | g.67490128A>G | CA381550829 | AIP | c.536A>G c.370A>G (p.Asn124Asp) n.1071A>G c.468+673A>G (n.468+673A>G) c.190A>G (p.Asn64Asp) c.559A>G (p.Asn187Asp) c.382A>G (p.Asn128Asp) c.379A>G (p.Asn127Asp) c.211A>G (p.Asn71Asp) | |
| 11 | g.67490128A>T | CA381550826 | AIP | c.536A>T c.370A>T (p.Asn124Tyr) n.1071A>T c.468+673A>T (n.468+673A>T) c.190A>T (p.Asn64Tyr) c.559A>T (p.Asn187Tyr) c.382A>T (p.Asn128Tyr) c.379A>T (p.Asn127Tyr) c.211A>T (p.Asn71Tyr) | |
| 11 | g.67490129A>C | CA381550833 | AIP | c.537A>C c.371A>C (p.Asn124Thr) n.1072A>C c.468+674A>C (n.468+674A>C) c.191A>C (p.Asn64Thr) c.560A>C (p.Asn187Thr) c.383A>C (p.Asn128Thr) c.380A>C (p.Asn127Thr) c.212A>C (p.Asn71Thr) | |
| 11 | g.67490129A>G | CA381550836 | AIP | c.537A>G c.371A>G (p.Asn124Ser) n.1072A>G c.468+674A>G (n.468+674A>G) c.191A>G (p.Asn64Ser) c.560A>G (p.Asn187Ser) c.383A>G (p.Asn128Ser) c.380A>G (p.Asn127Ser) c.212A>G (p.Asn71Ser) | |
| 11 | g.67490129A>T | CA381550838 | AIP | c.537A>T c.371A>T (p.Asn124Ile) n.1072A>T c.468+674A>T (n.468+674A>T) c.191A>T (p.Asn64Ile) c.560A>T (p.Asn187Ile) c.383A>T (p.Asn128Ile) c.380A>T (p.Asn127Ile) c.212A>T (p.Asn71Ile) | |
| 11 | g.67490130C>A | CA381550841 | AIP | c.538C>A c.372C>A (p.Asn124Lys) n.1073C>A c.468+675C>A (n.468+675C>A) c.192C>A (p.Asn64Lys) c.561C>A (p.Asn187Lys) c.384C>A (p.Asn128Lys) c.381C>A (p.Asn127Lys) c.213C>A (p.Asn71Lys) | |
| 11 | g.67490130C= | CA1980172310 | AIP | c.538C= c.372C= (p.Asn124=) n.1073C= c.468+675C= (n.468+675C=) c.192C= (p.Asn64=) c.561C= (p.Asn187=) c.384C= (p.Asn128=) c.381C= (p.Asn127=) c.213C= (p.Asn71=) | |
| 11 | g.67490130C>G | CA381550845 | AIP | c.538C>G c.372C>G (p.Asn124Lys) n.1073C>G c.468+675C>G (n.468+675C>G) c.192C>G (p.Asn64Lys) c.561C>G (p.Asn187Lys) c.384C>G (p.Asn128Lys) c.381C>G (p.Asn127Lys) c.213C>G (p.Asn71Lys) | |
| 11 | g.67490130C>T | CA6140868 | AIP | c.538C>T c.372C>T (p.Asn124=) n.1073C>T c.468+675C>T (n.468+675C>T) c.192C>T (p.Asn64=) c.561C>T (p.Asn187=) c.384C>T (p.Asn128=) c.381C>T (p.Asn127=) c.213C>T (p.Asn71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490131C>A | CA475509194 | AIP | c.539C>A c.373C>A (p.Arg125=) n.1074C>A c.468+676C>A (n.468+676C>A) c.193C>A (p.Arg65=) c.562C>A (p.Arg188=) c.385C>A (p.Arg129=) c.382C>A (p.Arg128=) c.214C>A (p.Arg72=) | |
| 11 | g.67490131C= | CA1980172311 | AIP | c.539C= c.373C= (p.Arg125=) n.1074C= c.468+676C= (n.468+676C=) c.193C= (p.Arg65=) c.562C= (p.Arg188=) c.385C= (p.Arg129=) c.382C= (p.Arg128=) c.214C= (p.Arg72=) | |
| 11 | g.67490131C>G | CA381550851 | AIP | c.539C>G c.373C>G (p.Arg125Gly) n.1074C>G c.468+676C>G (n.468+676C>G) c.193C>G (p.Arg65Gly) c.562C>G (p.Arg188Gly) c.385C>G (p.Arg129Gly) c.382C>G (p.Arg128Gly) c.214C>G (p.Arg72Gly) | |
| 11 | g.67490131C>T | CA6140869 | AIP | c.539C>T c.373C>T (p.Arg125Trp) n.1074C>T c.468+676C>T (n.468+676C>T) c.193C>T (p.Arg65Trp) c.562C>T (p.Arg188Trp) c.385C>T (p.Arg129Trp) c.382C>T (p.Arg128Trp) c.214C>T (p.Arg72Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490132G>A | CA224165016 | AIP | c.540G>A c.374G>A (p.Arg125Gln) n.1075G>A c.468+677G>A (n.468+677G>A) c.194G>A (p.Arg65Gln) c.563G>A (p.Arg188Gln) c.386G>A (p.Arg129Gln) c.383G>A (p.Arg128Gln) c.215G>A (p.Arg72Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.67490132G>C | CA381550856 | AIP | c.540G>C c.374G>C (p.Arg125Pro) n.1075G>C c.468+677G>C (n.468+677G>C) c.194G>C (p.Arg65Pro) c.563G>C (p.Arg188Pro) c.386G>C (p.Arg129Pro) c.383G>C (p.Arg128Pro) c.215G>C (p.Arg72Pro) | |
| 11 | g.67490132G= | CA1980172312 | AIP | c.540G= c.374G= (p.Arg125=) n.1075G= c.468+677G= (n.468+677G=) c.194G= (p.Arg65=) c.563G= (p.Arg188=) c.386G= (p.Arg129=) c.383G= (p.Arg128=) c.215G= (p.Arg72=) | |
| 11 | g.67490132G>T | CA381550858 | AIP | c.540G>T c.374G>T (p.Arg125Leu) n.1075G>T c.468+677G>T (n.468+677G>T) c.194G>T (p.Arg65Leu) c.563G>T (p.Arg188Leu) c.386G>T (p.Arg129Leu) c.383G>T (p.Arg128Leu) c.215G>T (p.Arg72Leu) | |
| 11 | g.67490133G>A | CA475509196 | AIP | c.541G>A c.375G>A (p.Arg125=) n.1076G>A c.468+678G>A (n.468+678G>A) c.195G>A (p.Arg65=) c.564G>A (p.Arg188=) c.387G>A (p.Arg129=) c.384G>A (p.Arg128=) c.216G>A (p.Arg72=) | ClinVar |
| 11 | g.67490133G>C | CA475509197 | AIP | c.541G>C c.375G>C (p.Arg125=) n.1076G>C c.468+678G>C (n.468+678G>C) c.195G>C (p.Arg65=) c.564G>C (p.Arg188=) c.387G>C (p.Arg129=) c.384G>C (p.Arg128=) c.216G>C (p.Arg72=) | |
| 11 | g.67490133G>T | CA475509198 | AIP | c.541G>T c.375G>T (p.Arg125=) n.1076G>T c.468+678G>T (n.468+678G>T) c.195G>T (p.Arg65=) c.564G>T (p.Arg188=) c.387G>T (p.Arg129=) c.384G>T (p.Arg128=) c.216G>T (p.Arg72=) | |
| 11 | g.67490133_67490134insCTGCGGCACCCCCTCGAC | CA2534074633 | AIP | c.541_542insCTGCGGCACCCCCTCGAC c.375_376insCTGCGGCACCCCCTCGAC (p.Arg125_Leu126insLeuArgHisProLeuAsp) n.1076_1077insCTGCGGCACCCCCTCGAC c.468+678_468+679insCTGCGGCACCCCCTCGAC (n.468+678_468+679insCTGCGGCACCCCCTCGAC) c.195_196insCTGCGGCACCCCCTCGAC (p.Arg65_Leu66insLeuArgHisProLeuAsp) c.564_565insCTGCGGCACCCCCTCGAC (p.Arg188_Leu189insLeuArgHisProLeuAsp) c.387_388insCTGCGGCACCCCCTCGAC (p.Arg129_Leu130insLeuArgHisProLeuAsp) c.384_385insCTGCGGCACCCCCTCGAC (p.Arg128_Leu129insLeuArgHisProLeuAsp) c.216_217insCTGCGGCACCCCCTCGAC (p.Arg72_Leu73insLeuArgHisProLeuAsp) | |
| 11 | g.67490133_67490134insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC | CA2568274812 | AIP | c.541_542insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC c.375_376insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC (p.Tyr127ArgfsTer?) n.1076_1077insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC c.468+678_468+679insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC (n.468+678_468+679insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC) c.195_196insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC (p.Tyr67ArgfsTer?) c.564_565insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC (p.Tyr190ArgfsTer?) c.387_388insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC (p.Tyr131ArgfsTer?) c.384_385insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC (p.Tyr130ArgfsTer?) c.216_217insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC (p.Tyr74ArgfsTer?) | |
| 11 | g.67490134T>A | CA381550861 | AIP | c.542T>A c.376T>A (p.Leu126Met) n.1077T>A c.468+679T>A (n.468+679T>A) c.196T>A (p.Leu66Met) c.565T>A (p.Leu189Met) c.388T>A (p.Leu130Met) c.385T>A (p.Leu129Met) c.217T>A (p.Leu73Met) | |
| 11 | g.67490134T>C | CA475509199 | AIP | c.542T>C c.376T>C (p.Leu126=) n.1077T>C c.468+679T>C (n.468+679T>C) c.196T>C (p.Leu66=) c.565T>C (p.Leu189=) c.388T>C (p.Leu130=) c.385T>C (p.Leu129=) c.217T>C (p.Leu73=) | |
| 11 | g.67490134T>G | CA381550863 | AIP | c.542T>G c.376T>G (p.Leu126Val) n.1077T>G c.468+679T>G (n.468+679T>G) c.196T>G (p.Leu66Val) c.565T>G (p.Leu189Val) c.388T>G (p.Leu130Val) c.385T>G (p.Leu129Val) c.217T>G (p.Leu73Val) | |
| 11 | g.67490135T>A | CA381550867 | AIP | c.543T>A c.377T>A (p.Leu126Ter) n.1078T>A c.468+680T>A (n.468+680T>A) c.197T>A (p.Leu66Ter) c.566T>A (p.Leu189Ter) c.389T>A (p.Leu130Ter) c.386T>A (p.Leu129Ter) c.218T>A (p.Leu73Ter) | |
| 11 | g.67490135T>C | CA381550872 | AIP | c.543T>C c.377T>C (p.Leu126Ser) n.1078T>C c.468+680T>C (n.468+680T>C) c.197T>C (p.Leu66Ser) c.566T>C (p.Leu189Ser) c.389T>C (p.Leu130Ser) c.386T>C (p.Leu129Ser) c.218T>C (p.Leu73Ser) | |
| 11 | g.67490135T>G | CA381550869 | AIP | c.543T>G c.377T>G (p.Leu126Trp) n.1078T>G c.468+680T>G (n.468+680T>G) c.197T>G (p.Leu66Trp) c.566T>G (p.Leu189Trp) c.389T>G (p.Leu130Trp) c.386T>G (p.Leu129Trp) c.218T>G (p.Leu73Trp) | |
| 11 | g.67490135_67490136insTC | CA2507801261 | AIP | c.543_544insTC c.377_378insTC (p.Leu126PhefsTer8) n.1078_1079insTC c.468+680_468+681insTC (n.468+680_468+681insTC) c.197_198insTC (p.Leu66PhefsTer8) c.566_567insTC (p.Leu189PhefsTer8) c.389_390insTC (p.Leu130PhefsTer8) c.386_387insTC (p.Leu129PhefsTer8) c.218_219insTC (p.Leu73PhefsTer8) | |
| 11 | g.67490136G>A | CA475509202 | AIP | c.544G>A c.378G>A (p.Leu126=) n.1079G>A c.468+681G>A (n.468+681G>A) c.198G>A (p.Leu66=) c.567G>A (p.Leu189=) c.390G>A (p.Leu130=) c.387G>A (p.Leu129=) c.219G>A (p.Leu73=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490136G>C | CA6140870 | AIP | c.544G>C c.378G>C (p.Leu126Phe) n.1079G>C c.468+681G>C (n.468+681G>C) c.198G>C (p.Leu66Phe) c.567G>C (p.Leu189Phe) c.390G>C (p.Leu130Phe) c.387G>C (p.Leu129Phe) c.219G>C (p.Leu73Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490136G= | CA1980172313 | AIP | c.544G= c.378G= (p.Leu126=) n.1079G= c.468+681G= (n.468+681G=) c.198G= (p.Leu66=) c.567G= (p.Leu189=) c.390G= (p.Leu130=) c.387G= (p.Leu129=) c.219G= (p.Leu73=) | |
| 11 | g.67490136G>T | CA381550878 | AIP | c.544G>T c.378G>T (p.Leu126Phe) n.1079G>T c.468+681G>T (n.468+681G>T) c.198G>T (p.Leu66Phe) c.567G>T (p.Leu189Phe) c.390G>T (p.Leu130Phe) c.387G>T (p.Leu129Phe) c.219G>T (p.Leu73Phe) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490137T>A | CA381550883 | AIP | c.545T>A c.379T>A (p.Tyr127Asn) n.1080T>A c.468+682T>A (n.468+682T>A) c.199T>A (p.Tyr67Asn) c.568T>A (p.Tyr190Asn) c.391T>A (p.Tyr131Asn) c.388T>A (p.Tyr130Asn) c.220T>A (p.Tyr74Asn) | |
| 11 | g.67490137T>C | CA381550885 | AIP | c.545T>C c.379T>C (p.Tyr127His) n.1080T>C c.468+682T>C (n.468+682T>C) c.199T>C (p.Tyr67His) c.568T>C (p.Tyr190His) c.391T>C (p.Tyr131His) c.388T>C (p.Tyr130His) c.220T>C (p.Tyr74His) | |
| 11 | g.67490137T>G | CA381550889 | AIP | c.545T>G c.379T>G (p.Tyr127Asp) n.1080T>G c.468+682T>G (n.468+682T>G) c.199T>G (p.Tyr67Asp) c.568T>G (p.Tyr190Asp) c.391T>G (p.Tyr131Asp) c.388T>G (p.Tyr130Asp) c.220T>G (p.Tyr74Asp) | |
| 11 | g.67490138A>C | CA381550893 | AIP | c.546A>C c.380A>C (p.Tyr127Ser) n.1081A>C c.468+683A>C (n.468+683A>C) c.200A>C (p.Tyr67Ser) c.569A>C (p.Tyr190Ser) c.392A>C (p.Tyr131Ser) c.389A>C (p.Tyr130Ser) c.221A>C (p.Tyr74Ser) | |
| 11 | g.67490138A>G | CA381550895 | AIP | c.546A>G c.380A>G (p.Tyr127Cys) n.1081A>G c.468+683A>G (n.468+683A>G) c.200A>G (p.Tyr67Cys) c.569A>G (p.Tyr190Cys) c.392A>G (p.Tyr131Cys) c.389A>G (p.Tyr130Cys) c.221A>G (p.Tyr74Cys) | |
| 11 | g.67490138A>T | CA381550898 | AIP | c.546A>T c.380A>T (p.Tyr127Phe) n.1081A>T c.468+683A>T (n.468+683A>T) c.200A>T (p.Tyr67Phe) c.569A>T (p.Tyr190Phe) c.392A>T (p.Tyr131Phe) c.389A>T (p.Tyr130Phe) c.221A>T (p.Tyr74Phe) | |
| 11 | g.67490139C>A | CA381550900 | AIP | c.547C>A c.381C>A (p.Tyr127Ter) n.1082C>A c.468+684C>A (n.468+684C>A) c.201C>A (p.Tyr67Ter) c.570C>A (p.Tyr190Ter) c.393C>A (p.Tyr131Ter) c.390C>A (p.Tyr130Ter) c.222C>A (p.Tyr74Ter) | |
| 11 | g.67490139C= | CA1980172314 | AIP | c.547C= c.381C= (p.Tyr127=) n.1082C= c.468+684C= (n.468+684C=) c.201C= (p.Tyr67=) c.570C= (p.Tyr190=) c.393C= (p.Tyr131=) c.390C= (p.Tyr130=) c.222C= (p.Tyr74=) | |
| 11 | g.67490139C>G | CA381550902 | AIP | c.547C>G c.381C>G (p.Tyr127Ter) n.1082C>G c.468+684C>G (n.468+684C>G) c.201C>G (p.Tyr67Ter) c.570C>G (p.Tyr190Ter) c.393C>G (p.Tyr131Ter) c.390C>G (p.Tyr130Ter) c.222C>G (p.Tyr74Ter) | |
| 11 | g.67490139C>T | CA475509204 | AIP | c.547C>T c.381C>T (p.Tyr127=) n.1082C>T c.468+684C>T (n.468+684C>T) c.201C>T (p.Tyr67=) c.570C>T (p.Tyr190=) c.393C>T (p.Tyr131=) c.390C>T (p.Tyr130=) c.222C>T (p.Tyr74=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490140C>A | CA381550906 | AIP | c.548C>A c.382C>A (p.Arg128Ser) n.1083C>A c.468+685C>A (n.468+685C>A) c.202C>A (p.Arg68Ser) c.571C>A (p.Arg191Ser) c.394C>A (p.Arg132Ser) c.391C>A (p.Arg131Ser) c.223C>A (p.Arg75Ser) | |
| 11 | g.67490140C= | CA1980172315 | AIP | c.548C= c.382C= (p.Arg128=) n.1083C= c.468+685C= (n.468+685C=) c.202C= (p.Arg68=) c.571C= (p.Arg191=) c.394C= (p.Arg132=) c.391C= (p.Arg131=) c.223C= (p.Arg75=) | |
| 11 | g.67490140C>G | CA381550905 | AIP | c.548C>G c.382C>G (p.Arg128Gly) n.1083C>G c.468+685C>G (n.468+685C>G) c.202C>G (p.Arg68Gly) c.571C>G (p.Arg191Gly) c.394C>G (p.Arg132Gly) c.391C>G (p.Arg131Gly) c.223C>G (p.Arg75Gly) | |
| 11 | g.67490140C>T | CA6140871 | AIP | c.548C>T c.382C>T (p.Arg128Cys) n.1083C>T c.468+685C>T (n.468+685C>T) c.202C>T (p.Arg68Cys) c.571C>T (p.Arg191Cys) c.394C>T (p.Arg132Cys) c.391C>T (p.Arg131Cys) c.223C>T (p.Arg75Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490141G>A | CA6140872 | AIP | c.549G>A c.383G>A (p.Arg128His) n.1084G>A c.468+686G>A (n.468+686G>A) c.203G>A (p.Arg68His) c.572G>A (p.Arg191His) c.395G>A (p.Arg132His) c.392G>A (p.Arg131His) c.224G>A (p.Arg75His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490141G>C | CA381550909 | AIP | c.549G>C c.383G>C (p.Arg128Pro) n.1084G>C c.468+686G>C (n.468+686G>C) c.203G>C (p.Arg68Pro) c.572G>C (p.Arg191Pro) c.395G>C (p.Arg132Pro) c.392G>C (p.Arg131Pro) c.224G>C (p.Arg75Pro) | |
| 11 | g.67490141G= | CA1980172316 | AIP | c.549G= c.383G= (p.Arg128=) n.1084G= c.468+686G= (n.468+686G=) c.203G= (p.Arg68=) c.572G= (p.Arg191=) c.395G= (p.Arg132=) c.392G= (p.Arg131=) c.224G= (p.Arg75=) | |
| 11 | g.67490141G>T | CA381550912 | AIP | c.549G>T c.383G>T (p.Arg128Leu) n.1084G>T c.468+686G>T (n.468+686G>T) c.203G>T (p.Arg68Leu) c.572G>T (p.Arg191Leu) c.395G>T (p.Arg132Leu) c.392G>T (p.Arg131Leu) c.224G>T (p.Arg75Leu) | ClinVar |
| 11 | g.67490142C>A | CA475509209 | AIP | c.550C>A c.384C>A (p.Arg128=) n.1085C>A c.468+687C>A (n.468+687C>A) c.204C>A (p.Arg68=) c.573C>A (p.Arg191=) c.396C>A (p.Arg132=) c.393C>A (p.Arg131=) c.225C>A (p.Arg75=) | |
| 11 | g.67490142C= | CA1980172317 | AIP | c.550C= c.384C= (p.Arg128=) n.1085C= c.468+687C= (n.468+687C=) c.204C= (p.Arg68=) c.573C= (p.Arg191=) c.396C= (p.Arg132=) c.393C= (p.Arg131=) c.225C= (p.Arg75=) | |
| 11 | g.67490142C>G | CA475509210 | AIP | c.550C>G c.384C>G (p.Arg128=) n.1085C>G c.468+687C>G (n.468+687C>G) c.204C>G (p.Arg68=) c.573C>G (p.Arg191=) c.396C>G (p.Arg132=) c.393C>G (p.Arg131=) c.225C>G (p.Arg75=) | ClinVar dbSNP |
| 11 | g.67490142C>T | CA6140873 | AIP | c.550C>T c.384C>T (p.Arg128=) n.1085C>T c.468+687C>T (n.468+687C>T) c.204C>T (p.Arg68=) c.573C>T (p.Arg191=) c.396C>T (p.Arg132=) c.393C>T (p.Arg131=) c.225C>T (p.Arg75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.67490143G>A | CA6140874 | AIP | c.551G>A c.385G>A (p.Glu129Lys) n.1086G>A c.468+688G>A (n.468+688G>A) c.205G>A (p.Glu69Lys) c.574G>A (p.Glu192Lys) c.397G>A (p.Glu133Lys) c.394G>A (p.Glu132Lys) c.226G>A (p.Glu76Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490143G>C | CA381550917 | AIP | c.551G>C c.385G>C (p.Glu129Gln) n.1086G>C c.468+688G>C (n.468+688G>C) c.205G>C (p.Glu69Gln) c.574G>C (p.Glu192Gln) c.397G>C (p.Glu133Gln) c.394G>C (p.Glu132Gln) c.226G>C (p.Glu76Gln) | |
| 11 | g.67490143G= | CA1980172318 | AIP | c.551G= c.385G= (p.Glu129=) n.1086G= c.468+688G= (n.468+688G=) c.205G= (p.Glu69=) c.574G= (p.Glu192=) c.397G= (p.Glu133=) c.394G= (p.Glu132=) c.226G= (p.Glu76=) | |
| 11 | g.67490143G>T | CA381550920 | AIP | c.551G>T c.385G>T (p.Glu129Ter) n.1086G>T c.468+688G>T (n.468+688G>T) c.205G>T (p.Glu69Ter) c.574G>T (p.Glu192Ter) c.397G>T (p.Glu133Ter) c.394G>T (p.Glu132Ter) c.226G>T (p.Glu76Ter) | |
| 11 | g.67490144A= | CA1980172319 | AIP | c.552A= c.386A= (p.Glu129=) n.1087A= c.468+689A= (n.468+689A=) c.206A= (p.Glu69=) c.575A= (p.Glu192=) c.398A= (p.Glu133=) c.395A= (p.Glu132=) c.227A= (p.Glu76=) | |
| 11 | g.67490144A>C | CA381550923 | AIP | c.552A>C c.386A>C (p.Glu129Ala) n.1087A>C c.468+689A>C (n.468+689A>C) c.206A>C (p.Glu69Ala) c.575A>C (p.Glu192Ala) c.398A>C (p.Glu133Ala) c.395A>C (p.Glu132Ala) c.227A>C (p.Glu76Ala) | |
| 11 | g.67490144A>G | CA6140875 | AIP | c.552A>G c.386A>G (p.Glu129Gly) n.1087A>G c.468+689A>G (n.468+689A>G) c.206A>G (p.Glu69Gly) c.575A>G (p.Glu192Gly) c.398A>G (p.Glu133Gly) c.395A>G (p.Glu132Gly) c.227A>G (p.Glu76Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490144A>T | CA381550929 | AIP | c.552A>T c.386A>T (p.Glu129Val) n.1087A>T c.468+689A>T (n.468+689A>T) c.206A>T (p.Glu69Val) c.575A>T (p.Glu192Val) c.398A>T (p.Glu133Val) c.395A>T (p.Glu132Val) c.227A>T (p.Glu76Val) | |
| 11 | g.67490145G>A | CA475509213 | AIP | c.553G>A c.387G>A (p.Glu129=) n.1088G>A c.468+690G>A (n.468+690G>A) c.207G>A (p.Glu69=) c.576G>A (p.Glu192=) c.399G>A (p.Glu133=) c.396G>A (p.Glu132=) c.228G>A (p.Glu76=) | gnomAD v4 |
| 11 | g.67490145G>C | CA381550930 | AIP | c.553G>C c.387G>C (p.Glu129Asp) n.1088G>C c.468+690G>C (n.468+690G>C) c.207G>C (p.Glu69Asp) c.576G>C (p.Glu192Asp) c.399G>C (p.Glu133Asp) c.396G>C (p.Glu132Asp) c.228G>C (p.Glu76Asp) | |
| 11 | g.67490145G>T | CA381550931 | AIP | c.553G>T c.387G>T (p.Glu129Asp) n.1088G>T c.468+690G>T (n.468+690G>T) c.207G>T (p.Glu69Asp) c.576G>T (p.Glu192Asp) c.399G>T (p.Glu133Asp) c.396G>T (p.Glu132Asp) c.228G>T (p.Glu76Asp) | |
| 11 | g.67490146G>A | CA381550933 | AIP | c.554G>A c.388G>A (p.Gly130Arg) n.1089G>A c.468+691G>A (n.468+691G>A) c.208G>A (p.Gly70Arg) c.577G>A (p.Gly193Arg) c.400G>A (p.Gly134Arg) c.397G>A (p.Gly133Arg) c.229G>A (p.Gly77Arg) | |
| 11 | g.67490146G>C | CA381550934 | AIP | c.554G>C c.388G>C (p.Gly130Arg) n.1089G>C c.468+691G>C (n.468+691G>C) c.208G>C (p.Gly70Arg) c.577G>C (p.Gly193Arg) c.400G>C (p.Gly134Arg) c.397G>C (p.Gly133Arg) c.229G>C (p.Gly77Arg) | |
| 11 | g.67490146G>T | CA381550935 | AIP | c.554G>T c.388G>T (p.Gly130Trp) n.1089G>T c.468+691G>T (n.468+691G>T) c.208G>T (p.Gly70Trp) c.577G>T (p.Gly193Trp) c.400G>T (p.Gly134Trp) c.397G>T (p.Gly133Trp) c.229G>T (p.Gly77Trp) | |
| 11 | g.67490147G>A | CA381550944 | AIP | c.555G>A c.389G>A (p.Gly130Glu) n.1090G>A c.468+692G>A (n.468+692G>A) c.209G>A (p.Gly70Glu) c.578G>A (p.Gly193Glu) c.401G>A (p.Gly134Glu) c.398G>A (p.Gly133Glu) c.230G>A (p.Gly77Glu) | |
| 11 | g.67490147G>C | CA381550939 | AIP | c.555G>C c.389G>C (p.Gly130Ala) n.1090G>C c.468+692G>C (n.468+692G>C) c.209G>C (p.Gly70Ala) c.578G>C (p.Gly193Ala) c.401G>C (p.Gly134Ala) c.398G>C (p.Gly133Ala) c.230G>C (p.Gly77Ala) | |
| 11 | g.67490147G>T | CA381550942 | AIP | c.555G>T c.389G>T (p.Gly130Val) n.1090G>T c.468+692G>T (n.468+692G>T) c.209G>T (p.Gly70Val) c.578G>T (p.Gly193Val) c.401G>T (p.Gly134Val) c.398G>T (p.Gly133Val) c.230G>T (p.Gly77Val) | COSMIC |
| 11 | g.67490148G>A | CA475509216 | AIP | c.556G>A c.390G>A (p.Gly130=) n.1091G>A c.468+693G>A (n.468+693G>A) c.210G>A (p.Gly70=) c.579G>A (p.Gly193=) c.402G>A (p.Gly134=) c.399G>A (p.Gly133=) c.231G>A (p.Gly77=) | ClinVar gnomAD v4 |
| 11 | g.67490148G>C | CA475509217 | AIP | c.556G>C c.390G>C (p.Gly130=) n.1091G>C c.468+693G>C (n.468+693G>C) c.210G>C (p.Gly70=) c.579G>C (p.Gly193=) c.402G>C (p.Gly134=) c.399G>C (p.Gly133=) c.231G>C (p.Gly77=) | |
| 11 | g.67490148G= | CA1980172320 | AIP | c.556G= c.390G= (p.Gly130=) n.1091G= c.468+693G= (n.468+693G=) c.210G= (p.Gly70=) c.579G= (p.Gly193=) c.402G= (p.Gly134=) c.399G= (p.Gly133=) c.231G= (p.Gly77=) | |
| 11 | g.67490148G>T | CA475509218 | AIP | c.556G>T c.390G>T (p.Gly130=) n.1091G>T c.468+693G>T (n.468+693G>T) c.210G>T (p.Gly70=) c.579G>T (p.Gly193=) c.402G>T (p.Gly134=) c.399G>T (p.Gly133=) c.231G>T (p.Gly77=) | dbSNP |
| 11 | g.67490149C>A | CA381550948 | AIP | c.557C>A c.391C>A (p.His131Asn) n.1092C>A c.468+694C>A (n.468+694C>A) c.211C>A (p.His71Asn) c.580C>A (p.His194Asn) c.403C>A (p.His135Asn) c.400C>A (p.His134Asn) c.232C>A (p.His78Asn) | |
| 11 | g.67490149C>G | CA381550949 | AIP | c.557C>G c.391C>G (p.His131Asp) n.1092C>G c.468+694C>G (n.468+694C>G) c.211C>G (p.His71Asp) c.580C>G (p.His194Asp) c.403C>G (p.His135Asp) c.400C>G (p.His134Asp) c.232C>G (p.His78Asp) | |
| 11 | g.67490149C>T | CA381550950 | AIP | c.557C>T c.391C>T (p.His131Tyr) n.1092C>T c.468+694C>T (n.468+694C>T) c.211C>T (p.His71Tyr) c.580C>T (p.His194Tyr) c.403C>T (p.His135Tyr) c.400C>T (p.His134Tyr) c.232C>T (p.His78Tyr) | |
| 11 | g.67490150A= | CA1980172321 | AIP | c.558A= c.392A= (p.His131=) n.1093A= c.468+695A= (n.468+695A=) c.212A= (p.His71=) c.581A= (p.His194=) c.404A= (p.His135=) c.401A= (p.His134=) c.233A= (p.His78=) | |
| 11 | g.67490150A>C | CA381550951 | AIP | c.558A>C c.392A>C (p.His131Pro) n.1093A>C c.468+695A>C (n.468+695A>C) c.212A>C (p.His71Pro) c.581A>C (p.His194Pro) c.404A>C (p.His135Pro) c.401A>C (p.His134Pro) c.233A>C (p.His78Pro) | |
| 11 | g.67490150A>G | CA6140876 | AIP | c.558A>G c.392A>G (p.His131Arg) n.1093A>G c.468+695A>G (n.468+695A>G) c.212A>G (p.His71Arg) c.581A>G (p.His194Arg) c.404A>G (p.His135Arg) c.401A>G (p.His134Arg) c.233A>G (p.His78Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490150A>T | CA381550955 | AIP | c.558A>T c.392A>T (p.His131Leu) n.1093A>T c.468+695A>T (n.468+695A>T) c.212A>T (p.His71Leu) c.581A>T (p.His194Leu) c.404A>T (p.His135Leu) c.401A>T (p.His134Leu) c.233A>T (p.His78Leu) | |
| 11 | g.67490151T>A | CA381550959 | AIP | c.559T>A c.393T>A (p.His131Gln) n.1094T>A c.468+696T>A (n.468+696T>A) c.213T>A (p.His71Gln) c.582T>A (p.His194Gln) c.405T>A (p.His135Gln) c.402T>A (p.His134Gln) c.234T>A (p.His78Gln) | |
| 11 | g.67490151T>C | CA475509224 | AIP | c.559T>C c.393T>C (p.His131=) n.1094T>C c.468+696T>C (n.468+696T>C) c.213T>C (p.His71=) c.582T>C (p.His194=) c.405T>C (p.His135=) c.402T>C (p.His134=) c.234T>C (p.His78=) | ClinVar gnomAD v4 |
| 11 | g.67490151T>G | CA381550961 | AIP | c.559T>G c.393T>G (p.His131Gln) n.1094T>G c.468+696T>G (n.468+696T>G) c.213T>G (p.His71Gln) c.582T>G (p.His194Gln) c.405T>G (p.His135Gln) c.402T>G (p.His134Gln) c.234T>G (p.His78Gln) | |
| 11 | g.67490152G>A | CA381550965 | AIP | c.560G>A c.394G>A (p.Val132Met) n.1095G>A c.468+697G>A (n.468+697G>A) c.214G>A (p.Val72Met) c.583G>A (p.Val195Met) c.406G>A (p.Val136Met) c.403G>A (p.Val135Met) c.235G>A (p.Val79Met) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490152G>C | CA381550968 | AIP | c.560G>C c.394G>C (p.Val132Leu) n.1095G>C c.468+697G>C (n.468+697G>C) c.214G>C (p.Val72Leu) c.583G>C (p.Val195Leu) c.406G>C (p.Val136Leu) c.403G>C (p.Val135Leu) c.235G>C (p.Val79Leu) | |
| 11 | g.67490152G= | CA1980172322 | AIP | c.560G= c.394G= (p.Val132=) n.1095G= c.468+697G= (n.468+697G=) c.214G= (p.Val72=) c.583G= (p.Val195=) c.406G= (p.Val136=) c.403G= (p.Val135=) c.235G= (p.Val79=) | |
| 11 | g.67490152G>T | CA381550969 | AIP | c.560G>T c.394G>T (p.Val132Leu) n.1095G>T c.468+697G>T (n.468+697G>T) c.214G>T (p.Val72Leu) c.583G>T (p.Val195Leu) c.406G>T (p.Val136Leu) c.403G>T (p.Val135Leu) c.235G>T (p.Val79Leu) | |
| 11 | g.67490153T>A | CA381550975 | AIP | c.561T>A c.395T>A (p.Val132Glu) n.1096T>A c.468+698T>A (n.468+698T>A) c.215T>A (p.Val72Glu) c.584T>A (p.Val195Glu) c.407T>A (p.Val136Glu) c.404T>A (p.Val135Glu) c.236T>A (p.Val79Glu) | |
| 11 | g.67490153T>C | CA344130 | AIP | c.561T>C c.395T>C (p.Val132Ala) n.1096T>C c.468+698T>C (n.468+698T>C) c.215T>C (p.Val72Ala) c.584T>C (p.Val195Ala) c.407T>C (p.Val136Ala) c.404T>C (p.Val135Ala) c.236T>C (p.Val79Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490153T>G | CA381550972 | AIP | c.561T>G c.395T>G (p.Val132Gly) n.1096T>G c.468+698T>G (n.468+698T>G) c.215T>G (p.Val72Gly) c.584T>G (p.Val195Gly) c.407T>G (p.Val136Gly) c.404T>G (p.Val135Gly) c.236T>G (p.Val79Gly) | |
| 11 | g.67490153T= | CA1980172323 | AIP | c.561T= c.395T= (p.Val132=) n.1096T= c.468+698T= (n.468+698T=) c.215T= (p.Val72=) c.584T= (p.Val195=) c.407T= (p.Val136=) c.404T= (p.Val135=) c.236T= (p.Val79=) | |
| 11 | g.67490154G>A | CA475509229 | AIP | c.562G>A c.396G>A (p.Val132=) n.1097G>A c.468+699G>A (n.468+699G>A) c.216G>A (p.Val72=) c.585G>A (p.Val195=) c.408G>A (p.Val136=) c.405G>A (p.Val135=) c.237G>A (p.Val79=) | |
| 11 | g.67490154G>C | CA475509231 | AIP | c.562G>C c.396G>C (p.Val132=) n.1097G>C c.468+699G>C (n.468+699G>C) c.216G>C (p.Val72=) c.585G>C (p.Val195=) c.408G>C (p.Val136=) c.405G>C (p.Val135=) c.237G>C (p.Val79=) | |
| 11 | g.67490154G>T | CA475509233 | AIP | c.562G>T c.396G>T (p.Val132=) n.1097G>T c.468+699G>T (n.468+699G>T) c.216G>T (p.Val72=) c.585G>T (p.Val195=) c.408G>T (p.Val136=) c.405G>T (p.Val135=) c.237G>T (p.Val79=) | |
| 11 | g.67490155A>C | CA381550980 | AIP | c.563A>C c.397A>C (p.Lys133Gln) n.1098A>C c.468+700A>C (n.468+700A>C) c.217A>C (p.Lys73Gln) c.586A>C (p.Lys196Gln) c.409A>C (p.Lys137Gln) c.406A>C (p.Lys136Gln) c.238A>C (p.Lys80Gln) | |
| 11 | g.67490155A>G | CA381550982 | AIP | c.563A>G c.397A>G (p.Lys133Glu) n.1098A>G c.468+700A>G (n.468+700A>G) c.217A>G (p.Lys73Glu) c.586A>G (p.Lys196Glu) c.409A>G (p.Lys137Glu) c.406A>G (p.Lys136Glu) c.238A>G (p.Lys80Glu) | |
| 11 | g.67490155A>T | CA381550987 | AIP | c.563A>T c.397A>T (p.Lys133Ter) n.1098A>T c.468+700A>T (n.468+700A>T) c.217A>T (p.Lys73Ter) c.586A>T (p.Lys196Ter) c.409A>T (p.Lys137Ter) c.406A>T (p.Lys136Ter) c.238A>T (p.Lys80Ter) | |
| 11 | g.67490156A= | CA1980172324 | AIP | c.564A= c.398A= (p.Lys133=) n.1099A= c.468+701A= (n.468+701A=) c.218A= (p.Lys73=) c.587A= (p.Lys196=) c.410A= (p.Lys137=) c.407A= (p.Lys136=) c.239A= (p.Lys80=) | |
| 11 | g.67490156A>C | CA381550993 | AIP | c.564A>C c.398A>C (p.Lys133Thr) n.1099A>C c.468+701A>C (n.468+701A>C) c.218A>C (p.Lys73Thr) c.587A>C (p.Lys196Thr) c.410A>C (p.Lys137Thr) c.407A>C (p.Lys136Thr) c.239A>C (p.Lys80Thr) | ClinVar dbSNP |
| 11 | g.67490156A>G | CA381550996 | AIP | c.564A>G c.398A>G (p.Lys133Arg) n.1099A>G c.468+701A>G (n.468+701A>G) c.218A>G (p.Lys73Arg) c.587A>G (p.Lys196Arg) c.410A>G (p.Lys137Arg) c.407A>G (p.Lys136Arg) c.239A>G (p.Lys80Arg) | ClinVar |
| 11 | g.67490156A>T | CA381550998 | AIP | c.564A>T c.398A>T (p.Lys133Met) n.1099A>T c.468+701A>T (n.468+701A>T) c.218A>T (p.Lys73Met) c.587A>T (p.Lys196Met) c.410A>T (p.Lys137Met) c.407A>T (p.Lys136Met) c.239A>T (p.Lys80Met) | |
| 11 | g.67490157G>A | CA475509238 | AIP | c.565G>A c.399G>A (p.Lys133=) n.1100G>A c.468+702G>A (n.468+702G>A) c.219G>A (p.Lys73=) c.588G>A (p.Lys196=) c.411G>A (p.Lys137=) c.408G>A (p.Lys136=) c.240G>A (p.Lys80=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490157G>C | CA381551004 | AIP | c.565G>C c.399G>C (p.Lys133Asn) n.1100G>C c.468+702G>C (n.468+702G>C) c.219G>C (p.Lys73Asn) c.588G>C (p.Lys196Asn) c.411G>C (p.Lys137Asn) c.408G>C (p.Lys136Asn) c.240G>C (p.Lys80Asn) | |
| 11 | g.67490157G= | CA1980172325 | AIP | c.565G= c.399G= (p.Lys133=) n.1100G= c.468+702G= (n.468+702G=) c.219G= (p.Lys73=) c.588G= (p.Lys196=) c.411G= (p.Lys137=) c.408G= (p.Lys136=) c.240G= (p.Lys80=) | |
| 11 | g.67490157G>T | CA381551001 | AIP | c.565G>T c.399G>T (p.Lys133Asn) n.1100G>T c.468+702G>T (n.468+702G>T) c.219G>T (p.Lys73Asn) c.588G>T (p.Lys196Asn) c.411G>T (p.Lys137Asn) c.408G>T (p.Lys136Asn) c.240G>T (p.Lys80Asn) | |
| 11 | g.67490158G>A | CA381551008 | AIP | c.566G>A c.400G>A (p.Glu134Lys) n.1101G>A c.468+703G>A (n.468+703G>A) c.220G>A (p.Glu74Lys) c.589G>A (p.Glu197Lys) c.412G>A (p.Glu138Lys) c.409G>A (p.Glu137Lys) c.241G>A (p.Glu81Lys) | |
| 11 | g.67490158G>C | CA381551011 | AIP | c.566G>C c.400G>C (p.Glu134Gln) n.1101G>C c.468+703G>C (n.468+703G>C) c.220G>C (p.Glu74Gln) c.589G>C (p.Glu197Gln) c.412G>C (p.Glu138Gln) c.409G>C (p.Glu137Gln) c.241G>C (p.Glu81Gln) | |
| 11 | g.67490158G>T | CA381551013 | AIP | c.566G>T c.400G>T (p.Glu134Ter) n.1101G>T c.468+703G>T (n.468+703G>T) c.220G>T (p.Glu74Ter) c.589G>T (p.Glu197Ter) c.412G>T (p.Glu138Ter) c.409G>T (p.Glu137Ter) c.241G>T (p.Glu81Ter) | |
| 11 | g.67490159A>C | CA381551016 | AIP | c.567A>C c.401A>C (p.Glu134Ala) n.1102A>C c.468+704A>C (n.468+704A>C) c.221A>C (p.Glu74Ala) c.590A>C (p.Glu197Ala) c.413A>C (p.Glu138Ala) c.410A>C (p.Glu137Ala) c.242A>C (p.Glu81Ala) | |
| 11 | g.67490159A>G | CA381551017 | AIP | c.567A>G c.401A>G (p.Glu134Gly) n.1102A>G c.468+704A>G (n.468+704A>G) c.221A>G (p.Glu74Gly) c.590A>G (p.Glu197Gly) c.413A>G (p.Glu138Gly) c.410A>G (p.Glu137Gly) c.242A>G (p.Glu81Gly) | ClinVar |
| 11 | g.67490159A>T | CA381551018 | AIP | c.567A>T c.401A>T (p.Glu134Val) n.1102A>T c.468+704A>T (n.468+704A>T) c.221A>T (p.Glu74Val) c.590A>T (p.Glu197Val) c.413A>T (p.Glu138Val) c.410A>T (p.Glu137Val) c.242A>T (p.Glu81Val) | |
| 11 | g.67490160G>A | CA344134 | AIP | c.568G>A c.402G>A (p.Glu134=) n.1103G>A c.468+705G>A (n.468+705G>A) c.222G>A (p.Glu74=) c.591G>A (p.Glu197=) c.414G>A (p.Glu138=) c.411G>A (p.Glu137=) c.243G>A (p.Glu81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490160G>C | CA381551025 | AIP | c.568G>C c.402G>C (p.Glu134Asp) n.1103G>C c.468+705G>C (n.468+705G>C) c.222G>C (p.Glu74Asp) c.591G>C (p.Glu197Asp) c.414G>C (p.Glu138Asp) c.411G>C (p.Glu137Asp) c.243G>C (p.Glu81Asp) | |
| 11 | g.67490160G= | CA1980172326 | AIP | c.568G= c.402G= (p.Glu134=) n.1103G= c.468+705G= (n.468+705G=) c.222G= (p.Glu74=) c.591G= (p.Glu197=) c.414G= (p.Glu138=) c.411G= (p.Glu137=) c.243G= (p.Glu81=) | |
| 11 | g.67490160G>T | CA381551023 | AIP | c.568G>T c.402G>T (p.Glu134Asp) n.1103G>T c.468+705G>T (n.468+705G>T) c.222G>T (p.Glu74Asp) c.591G>T (p.Glu197Asp) c.414G>T (p.Glu138Asp) c.411G>T (p.Glu137Asp) c.243G>T (p.Glu81Asp) | ClinVar dbSNP |
| 11 | g.67490161G>A | CA381551029 | AIP | c.569G>A c.403G>A (p.Ala135Thr) n.1104G>A c.468+706G>A (n.468+706G>A) c.223G>A (p.Ala75Thr) c.592G>A (p.Ala198Thr) c.415G>A (p.Ala139Thr) c.412G>A (p.Ala138Thr) c.244G>A (p.Ala82Thr) | gnomAD v4 |
| 11 | g.67490161G>C | CA381551032 | AIP | c.569G>C c.403G>C (p.Ala135Pro) n.1104G>C c.468+706G>C (n.468+706G>C) c.223G>C (p.Ala75Pro) c.592G>C (p.Ala198Pro) c.415G>C (p.Ala139Pro) c.412G>C (p.Ala138Pro) c.244G>C (p.Ala82Pro) | |
| 11 | g.67490161G>T | CA381551035 | AIP | c.569G>T c.403G>T (p.Ala135Ser) n.1104G>T c.468+706G>T (n.468+706G>T) c.223G>T (p.Ala75Ser) c.592G>T (p.Ala198Ser) c.415G>T (p.Ala139Ser) c.412G>T (p.Ala138Ser) c.244G>T (p.Ala82Ser) | |
| 11 | g.67490162C>A | CA381551040 | AIP | c.570C>A c.404C>A (p.Ala135Asp) n.1105C>A c.468+707C>A (n.468+707C>A) c.224C>A (p.Ala75Asp) c.593C>A (p.Ala198Asp) c.416C>A (p.Ala139Asp) c.413C>A (p.Ala138Asp) c.245C>A (p.Ala82Asp) | COSMIC |
| 11 | g.67490162C>G | CA381551042 | AIP | c.570C>G c.404C>G (p.Ala135Gly) n.1105C>G c.468+707C>G (n.468+707C>G) c.224C>G (p.Ala75Gly) c.593C>G (p.Ala198Gly) c.416C>G (p.Ala139Gly) c.413C>G (p.Ala138Gly) c.245C>G (p.Ala82Gly) | |
| 11 | g.67490162C>T | CA381551046 | AIP | c.570C>T c.404C>T (p.Ala135Val) n.1105C>T c.468+707C>T (n.468+707C>T) c.224C>T (p.Ala75Val) c.593C>T (p.Ala198Val) c.416C>T (p.Ala139Val) c.413C>T (p.Ala138Val) c.245C>T (p.Ala82Val) | |
| 11 | g.67490163T>A | CA475509240 | AIP | c.571T>A c.405T>A (p.Ala135=) n.1106T>A c.468+708T>A (n.468+708T>A) c.225T>A (p.Ala75=) c.594T>A (p.Ala198=) c.417T>A (p.Ala139=) c.414T>A (p.Ala138=) c.246T>A (p.Ala82=) | |
| 11 | g.67490163T>C | CA475509242 | AIP | c.571T>C c.405T>C (p.Ala135=) n.1106T>C c.468+708T>C (n.468+708T>C) c.225T>C (p.Ala75=) c.594T>C (p.Ala198=) c.417T>C (p.Ala139=) c.414T>C (p.Ala138=) c.246T>C (p.Ala82=) | |
| 11 | g.67490163T>G | CA475509243 | AIP | c.571T>G c.405T>G (p.Ala135=) n.1106T>G c.468+708T>G (n.468+708T>G) c.225T>G (p.Ala75=) c.594T>G (p.Ala198=) c.417T>G (p.Ala139=) c.414T>G (p.Ala138=) c.246T>G (p.Ala82=) | ClinVar |
| 11 | g.67490164G>A | CA381551053 | AIP | c.572G>A c.406G>A (p.Ala136Thr) n.1107G>A c.468+709G>A (n.468+709G>A) c.226G>A (p.Ala76Thr) c.595G>A (p.Ala199Thr) c.418G>A (p.Ala140Thr) c.415G>A (p.Ala139Thr) c.247G>A (p.Ala83Thr) | |
| 11 | g.67490164G>C | CA381551054 | AIP | c.572G>C c.406G>C (p.Ala136Pro) n.1107G>C c.468+709G>C (n.468+709G>C) c.226G>C (p.Ala76Pro) c.595G>C (p.Ala199Pro) c.418G>C (p.Ala140Pro) c.415G>C (p.Ala139Pro) c.247G>C (p.Ala83Pro) | ClinVar dbSNP |
| 11 | g.67490164G= | CA1980172327 | AIP | c.572G= c.406G= (p.Ala136=) n.1107G= c.468+709G= (n.468+709G=) c.226G= (p.Ala76=) c.595G= (p.Ala199=) c.418G= (p.Ala140=) c.415G= (p.Ala139=) c.247G= (p.Ala83=) | |
| 11 | g.67490164G>T | CA381551057 | AIP | c.572G>T c.406G>T (p.Ala136Ser) n.1107G>T c.468+709G>T (n.468+709G>T) c.226G>T (p.Ala76Ser) c.595G>T (p.Ala199Ser) c.418G>T (p.Ala140Ser) c.415G>T (p.Ala139Ser) c.247G>T (p.Ala83Ser) | |
| 11 | g.67490165C>A | CA381551063 | AIP | c.573C>A c.407C>A (p.Ala136Asp) n.1108C>A c.468+710C>A (n.468+710C>A) c.227C>A (p.Ala76Asp) c.596C>A (p.Ala199Asp) c.419C>A (p.Ala140Asp) c.416C>A (p.Ala139Asp) c.248C>A (p.Ala83Asp) | |
| 11 | g.67490165C>G | CA381551066 | AIP | c.573C>G c.407C>G (p.Ala136Gly) n.1108C>G c.468+710C>G (n.468+710C>G) c.227C>G (p.Ala76Gly) c.596C>G (p.Ala199Gly) c.419C>G (p.Ala140Gly) c.416C>G (p.Ala139Gly) c.248C>G (p.Ala83Gly) | |
| 11 | g.67490165C>T | CA381551068 | AIP | c.573C>T c.407C>T (p.Ala136Val) n.1108C>T c.468+710C>T (n.468+710C>T) c.227C>T (p.Ala76Val) c.596C>T (p.Ala199Val) c.419C>T (p.Ala140Val) c.416C>T (p.Ala139Val) c.248C>T (p.Ala83Val) | |
| 11 | g.67490166T>A | CA475509245 | AIP | c.574T>A c.408T>A (p.Ala136=) n.1109T>A c.468+711T>A (n.468+711T>A) c.228T>A (p.Ala76=) c.597T>A (p.Ala199=) c.420T>A (p.Ala140=) c.417T>A (p.Ala139=) c.249T>A (p.Ala83=) | |
| 11 | g.67490166T>C | CA475509246 | AIP | c.574T>C c.408T>C (p.Ala136=) n.1109T>C c.468+711T>C (n.468+711T>C) c.228T>C (p.Ala76=) c.597T>C (p.Ala199=) c.420T>C (p.Ala140=) c.417T>C (p.Ala139=) c.249T>C (p.Ala83=) | |
| 11 | g.67490166T>G | CA475509244 | AIP | c.574T>G c.408T>G (p.Ala136=) n.1109T>G c.468+711T>G (n.468+711T>G) c.228T>G (p.Ala76=) c.597T>G (p.Ala199=) c.420T>G (p.Ala140=) c.417T>G (p.Ala139=) c.249T>G (p.Ala83=) | |
| 11 | g.67490167G>A | CA381551088 | AIP | c.575G>A c.409G>A (p.Ala137Thr) n.1110G>A c.468+712G>A (n.468+712G>A) c.229G>A (p.Ala77Thr) c.598G>A (p.Ala200Thr) c.421G>A (p.Ala141Thr) c.418G>A (p.Ala140Thr) c.250G>A (p.Ala84Thr) | gnomAD v4 |
| 11 | g.67490167G>C | CA381551090 | AIP | c.575G>C c.409G>C (p.Ala137Pro) n.1110G>C c.468+712G>C (n.468+712G>C) c.229G>C (p.Ala77Pro) c.598G>C (p.Ala200Pro) c.421G>C (p.Ala141Pro) c.418G>C (p.Ala140Pro) c.250G>C (p.Ala84Pro) | |
| 11 | g.67490167G>T | CA381551082 | AIP | c.575G>T c.409G>T (p.Ala137Ser) n.1110G>T c.468+712G>T (n.468+712G>T) c.229G>T (p.Ala77Ser) c.598G>T (p.Ala200Ser) c.421G>T (p.Ala141Ser) c.418G>T (p.Ala140Ser) c.250G>T (p.Ala84Ser) | |
| 11 | g.67490168C>A | CA381551093 | AIP | c.576C>A c.410C>A (p.Ala137Asp) n.1111C>A c.468+713C>A (n.468+713C>A) c.230C>A (p.Ala77Asp) c.599C>A (p.Ala200Asp) c.422C>A (p.Ala141Asp) c.419C>A (p.Ala140Asp) c.251C>A (p.Ala84Asp) | |
| 11 | g.67490168C= | CA1980172328 | AIP | c.576C= c.410C= (p.Ala137=) n.1111C= c.468+713C= (n.468+713C=) c.230C= (p.Ala77=) c.599C= (p.Ala200=) c.422C= (p.Ala141=) c.419C= (p.Ala140=) c.251C= (p.Ala84=) | |
| 11 | g.67490168C>G | CA381551099 | AIP | c.576C>G c.410C>G (p.Ala137Gly) n.1111C>G c.468+713C>G (n.468+713C>G) c.230C>G (p.Ala77Gly) c.599C>G (p.Ala200Gly) c.422C>G (p.Ala141Gly) c.419C>G (p.Ala140Gly) c.251C>G (p.Ala84Gly) | |
| 11 | g.67490168C>T | CA381551096 | AIP | c.576C>T c.410C>T (p.Ala137Val) n.1111C>T c.468+713C>T (n.468+713C>T) c.230C>T (p.Ala77Val) c.599C>T (p.Ala200Val) c.422C>T (p.Ala141Val) c.419C>T (p.Ala140Val) c.251C>T (p.Ala84Val) | dbSNP gnomAD v2 |
| 11 | g.67490169del | CA2499221230 | AIP | c.577del c.411del (p.Lys138SerfsTer14) n.1112del c.468+714del (n.468+714del) c.231del (p.Lys78SerfsTer14) c.600del (p.Lys201SerfsTer14) c.423del (p.Lys142SerfsTer14) c.420del (p.Lys141SerfsTer14) c.252del (p.Lys85SerfsTer14) | ClinVar dbSNP |
| 11 | g.67490169C>A | CA475509255 | AIP | c.577C>A c.411C>A (p.Ala137=) n.1112C>A c.468+714C>A (n.468+714C>A) c.231C>A (p.Ala77=) c.600C>A (p.Ala200=) c.423C>A (p.Ala141=) c.420C>A (p.Ala140=) c.252C>A (p.Ala84=) | |
| 11 | g.67490169C>G | CA475509254 | AIP | c.577C>G c.411C>G (p.Ala137=) n.1112C>G c.468+714C>G (n.468+714C>G) c.231C>G (p.Ala77=) c.600C>G (p.Ala200=) c.423C>G (p.Ala141=) c.420C>G (p.Ala140=) c.252C>G (p.Ala84=) | |
| 11 | g.67490169C>T | CA475509253 | AIP | c.577C>T c.411C>T (p.Ala137=) n.1112C>T c.468+714C>T (n.468+714C>T) c.231C>T (p.Ala77=) c.600C>T (p.Ala200=) c.423C>T (p.Ala141=) c.420C>T (p.Ala140=) c.252C>T (p.Ala84=) | gnomAD v4 |
| 11 | g.67490170A= | CA1980172329 | AIP | c.578A= c.412A= (p.Lys138=) n.1113A= c.468+715A= (n.468+715A=) c.232A= (p.Lys78=) c.601A= (p.Lys201=) c.424A= (p.Lys142=) c.421A= (p.Lys141=) c.253A= (p.Lys85=) | |
| 11 | g.67490170A>C | CA381551102 | AIP | c.578A>C c.412A>C (p.Lys138Gln) n.1113A>C c.468+715A>C (n.468+715A>C) c.232A>C (p.Lys78Gln) c.601A>C (p.Lys201Gln) c.424A>C (p.Lys142Gln) c.421A>C (p.Lys141Gln) c.253A>C (p.Lys85Gln) | ClinVar |
| 11 | g.67490170A>G | CA381551104 | AIP | c.578A>G c.412A>G (p.Lys138Glu) n.1113A>G c.468+715A>G (n.468+715A>G) c.232A>G (p.Lys78Glu) c.601A>G (p.Lys201Glu) c.424A>G (p.Lys142Glu) c.421A>G (p.Lys141Glu) c.253A>G (p.Lys85Glu) | |
| 11 | g.67490170A>T | CA344138 | AIP | c.578A>T c.412A>T (p.Lys138Ter) n.1113A>T c.468+715A>T (n.468+715A>T) c.232A>T (p.Lys78Ter) c.601A>T (p.Lys201Ter) c.424A>T (p.Lys142Ter) c.421A>T (p.Lys141Ter) c.253A>T (p.Lys85Ter) | ClinVar dbSNP |